Cauda equina syndrome complicating ankylosing spondylitis: use of electromyography and computerised tomography in diagnosis.

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Young, A; Dixon, A; Getty, J; Renton, P; Vacher, H

1981-06-01

A case of the cauda equina syndrome complicating ankylosing spondylitis (AS) is described. An unusual feature of this case was the relapsing and remitting nature of the condition, but there is sufficient evidence to explain the clinical picture on the basis of a recurrent intraspinal inflammatory process. The clinical and radiological features are similar to those of a further 28 reported in the literature. An electromyogram (EMG) proved important in defining the extent of neurological involvement. Computerised tomography (CT) showed marked laminar erosion and no bony exit foramen encroachment. We believe that the clinical diagnosis of this condition can be adequately confirmed with plain radiology, EMG, and CT scan.

Paraganglioma of the Cauda Equina Presenting with Erectile and Sphincter Dysfunction

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Wiesław Marcol

2009-06-01

Full Text Available Paragangliomas of the cauda equina are rare neuroepithelial tumors, usually manifesting clinically as sciatica. Here, we report a case of cauda equina paraganglioma with an unusual course in a 43-year-old man. His main complaints were erectile and sphincter dysfunction. The low back pain was initially ascribed to accidental injury. Magnetic resonance imaging revealed intradural tumor at the L2/L3 level. The patient underwent gross tumor resection, and the diagnosis of paraganglioma was based on neuropathologic examination. The symptoms completely resolved after tumor resection.

Cauda equina syndrome: A rare complication in intensive care

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Jagatsinh Yogendrasinh

2009-01-01

Full Text Available A 73-year-old married retired woman with a history of myocardial infarction and primary biliary cirrhosis was admitted to intensive care unit with complaints of chest pain. She was suspected to have pulmonary embolism (PE and was treated with low-molecular-weight heparin (LMWH and aspirin. She had computerized tomographic pulmonary angiography on next day, which ruled out any evidence of PE, until she was continued on LMWH. Three days later, she developed progressive right leg weakness and loss of sphincter control and patchy loss of sensation from T10 and below. She was seen by neurologist and had an MRI scan, which showed extensive subdural clot compressing the conus and lower half of the thoracic cord. She underwent T9-L1, L3, L5-S1 laminectomies, and evacuation and decompression of the clot. She showed very slight recovery following the surgery and left with residual paraparesis. This case is reported to raise awareness among intensivists to be cautious in establishing the diagnosis before prescribing the LMWH and be vigilant to diagnose cauda equina syndrome and treat promptly to avoid residual neurological problems.

Diagnosis of cauda equina abnormalities by using electromyography, discography, and epidurography in dogs

International Nuclear Information System (INIS)

Sisson, A.F.; LeCouteur, R.A.; Ingram, J.T.; Park, R.D.; Child, G.

1992-01-01

Electromyography (EMG), L7-S1 discography and epidurography were investigated in 15 dogs with clinical signs of cauda equina dysfunction and in 7 control dogs without such clinical signs. Electromyography of paraspinal and pelvic limb muscles was done in 13 of 15 affected dogs. An L7-S1 discogram followed by an epidurogram was performed in all 22 dogs using 20% iopamidol. Results of discograms, epidurograms, and gross necropsy examinations were normal in six of seven control dogs. The one dog in which these studies were abnormal had a mild L7-S1 disc protrusion that did not result in nerve root compression at necropsy. Electromyographic analysis was 100% accurate in predicting the presence or absence of cauda equina disease. None of the results of discograms were falsely negative. Twelve of 15 discograms in clinically affected dogs indicated dorsal disc protrusion, but 2 of these protrusions were found to be noncompressive at surgery (13% error). Abnormal epidurograms occurred in 9 of 15 clinically affected dogs. There was one false positive and two false negatives (20% error). Electromyography was a sensitive screening technique for the presence of cauda equina disease. Discography may be more sensitive for detection of L7-S1 disc protrusion than epidurography. An abnormal radiographic contrast study of the cauda equina may only be useful when combined with an abnormal EMG

Clinical features and surgical treatment of cauda equina schwannoma

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Jun-jun HUANG

2011-03-01

Full Text Available Objective To investigate the clinical features and surgical treatment method of cauda equina schwannoma.Methods Clinical symptoms,imaging characteristics and functional outcomes after surgical treatment of 32 patients with cauda equina schwannoma from June 2007 to March 2009 were retrospectively reviewed.Results Most patients(30 cases suffered lower extremity numbness/pain before operations and 18 of them suffered in both lower extremities.Physical examination showed bilateral nerve damage or unilateral multiple nerve damage in 25 cases.The initial symptom of 12 cases was simple lumbago.Ten cases were misdiagnosed as lumbar disc herniation.Six patients were scanned by computed tomography but none of them was diagnosed correctly.All the patients were definitely diagnosed by magnetic resonance imaging(MRI,the typical appearance of the schwannoma was a round or ovoid mass with isointense or slightly hyperintense on T1-weighted images,while on T2-weighted images with heterogeneous hyperintense in 25 cases,slightly hyperintense in 2,and homogeneous hyperintense in 5.Gadolinium-enhanced MRI was performed in 13 patients,of whom 10 cases showed heterogeneous or annular enhancing.In all patients,the tumor was resected completely,the functional outcomes were satisfactory except one with a giant tumor,in whom the neurological symptom was aggravated,and no recurrence was found during a short-term follow-up.Conclusions The characteristic features of cauda equina schwannoma were lower extremities numbness/pain and bi-or unilateral polyradiculopathy in physical examination.MRI is helpful for early diagnosis and recommended as the first choice.Functional outcomes are satisfactory in patients with tumor completely resected.

Microsurgical DREZotomy in the treatment of chronic pain due to spinal cord and cauda equina injuries: 2 cases report and related literature review

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LIU Qing-jun

2013-10-01

Full Text Available Objective The dorsal root entry zone (DREZ is a hyperactive focus in neuropathic pain (NP syndromes, and DREZotomy has been used in selective cases of NP. This study aims to investigate the therapeutic effect of microsurgical DREZotomy in chronic pain due to spinal cord and cauda equina injuries. Methods Two patients suffered with chronic pain due to spinal cord and cauda equina injuries were treated with microsurgical DREZotomy, and postoperative therapeutic effect and complications were observed. Results One patient had great pain, and the pain was alleviated 2 weeks after surgery, while carbamazepine (300 mg/d was administered continously. Another patient was completely free of pain 2 weeks after surgery, and no recurrence occurred during 3-year follow up. No severe complications were found in the 2 patients. Conclusion Microsurgical DREZotomy is an effective approach in treating chronic pain due to spinal cord and cauda equina injuries.

Magnetic resonance imaging of the cauda equina in chronic inflammatory demyelinating polyneuropathy

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A. F. Vasilenko

2017-01-01

Full Text Available Background. Chronic inflammatory demyelinating polyneuropathy (CIDP is a treatable disimmune neuropathy, which accurate diagnostics and treatment are essential to improve a long-lasting  prognosis and prevent invalidization. In atypical cases and  differential diagnosis extra investigations are needed, including neuroimaging.Objective. Evaluating the diagnostic role of the cauda equina magnetic resonance imaging (MRI in CIDP.Materials and methods. 8 patients with CIDP according to European Federation of Neurological Societies and Peripheral Nerve Society criteria were originally included in the main cohort: 6  patients with definitive CIDP, 1 patient – with possible CIDP; in 1  patient later mixed crioglobulinemia, associated with hepatitis C was  later diagnosed. MRI with contrast enhancement of the cauda equina was performed in all primary included patients in the main cohort  and in 8 controls with metabolic polyneuropathy. In 12 months MRI was repeated in the main cohort patients.Results. The enlargement of the nerve roots of the cauda equina and nodular hypertrophy was demonstrated in all CIDP patients, and in none of the control subjects. The extensiveness of qualitative  changes correlated with disease duration. All CIDP patients with root hypertrophy had gadolinium enhancement and its severity did not  correlate with disease activity. Contrast enhancement in roots of the  control group patients was explained by the medullary artery phenomenon.Conclusion. MRI of the cauda equina with contrast improves the diagnostic of CIDP, but does not depict the activity of the disease. MRI in CIDP is a promissing technique, requiring further investigation and standardization.

Cauda equina syndrome secondary to neurolymphomatosis: Case report and literature review.

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Jiménez Zapata, Herbert Daniel; Rojas Medina, Luis Mariano; Carrasco Moro, Rodrigo; Martínez Rodrigo, Aurora; García-Cosio Piqueras, Mónica

Neurolymphomatosis is a rare disorder characterised by infiltration of neoplastic lymphocytes into the peripheral nervous system. A wide variety of symptoms can manifest depending on its nature and location, making its diagnosis a real challenge. Treatment is based on methotrexate, although various chemotherapy regimens are currently available for patients with systemic disease. We present the case of a male patient with neurolymphomatosis of the cauda equina, together with a review of all cases published to date. Copyright © 2017 Sociedad Española de Neurocirugía. Publicado por Elsevier España, S.L.U. All rights reserved.

Thickening of the cauda equina roots: a common finding in Krabbe disease

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Hwang, Misun; Rodriguez, David [Department of Radiology of University of Pittsburgh Medical Center, Pittsburgh, PA (United States); Zuccoli, Giulio; Panigrahy, Ashok [Section of Neuroradiology, Children' s Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA (United States); Poe, Michele D.; Escolar, Maria L. [Department of Pediatrics at Children' s Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA (United States)

2016-10-15

Evaluation of Krabbe disease burden and eligibility for hematopoietic stem cell transplantation are often based on neuroimaging findings using the modified Loes scoring system, which encompasses central but not peripheral nervous system changes. We show that quantitative evaluation of thickened cauda equina nerve roots may improve the evaluation of Krabbe disease and therapeutic guidance. Lumbar spine MRI scans of patients obtained between March 2013 and September 2013 were retrospectively evaluated and compared to those of controls. Quantitative evaluation of cauda equina roots was performed on the axial plane obtained approximately 5 mm below the conus medullaris. The largest nerves in the right and left anterior quadrants of the spinal canal were acquired. Fifteen symptomatic patients with Krabbe disease (5-44 months old) and eleven age-matched controls were evaluated. The average areas (mm{sup 2}) of anterior right and left nerves were 1.40 and 1.23, respectively, for patients and 0.61 and 0.60 for controls (differences: 0.79 and 0.63; p < 0.001). Cauda equina nerve root thickening is associated with Krabbe disease in both treated and untreated patients. Adding lumbar spine MRI to the current neurodiagnostic protocols, which fails to account for peripheral nerve abnormalities, will likely facilitate the diagnosis of Krabbe disease. (orig.)

Imaging of cauda equina edema in lumbar canal stenosis by using gadolinium-enhanced MR imaging: experimental constriction injury.

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Kobayashi, S; Uchida, K; Takeno, K; Baba, H; Suzuki, Y; Hayakawa, K; Yoshizawa, H

2006-02-01

It has been reported that disturbance of blood flow arising from circumferential compression of the cauda equina by surrounding tissue plays a major role in the appearance of neurogenic intermittent claudication (NIC) associated with lumbar spinal canal stenosis (LSCS). We created a model of LSCS to clarify the mechanism of enhancement within the cauda equina on gadolinium-enhanced MR images from patients with LSCS. In 20 dogs, a lumbar laminectomy was performed by applying circumferential constriction to the cauda equina by using a silicon tube, to produce 30% stenosis of the circumferential diameter of the dural tube. After 1 and 3 weeks, gadolinium and Evans blue albumin were injected intravenously at the same time. The sections were used to investigate the status of the blood-nerve barrier function under a fluorescence microscope and we compared gadolinium-enhanced MR images with Evans blue albumin distribution in the nerve. The other sections were used for light and transmission electron microscopic study. In this model, histologic examination showed congestion and dilation in many of the intraradicular veins, as well as inflammatory cell infiltration. The intraradicular edema caused by venous congestion and Wallerian degeneration can also occur at sites that are not subject to mechanical compression. Enhanced MR imaging showed enhancement of the cauda equina at the stenosed region, demonstrating the presence of edema. Gadolinium-enhanced MR imaging may be a useful tool for the diagnosis of microcirculatory disorders of the cauda equina associated with LSCS.

The relationship between the duration of acute cauda equina compression and functional outcomes in a rat model.

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Glennie, R Andrew; Urquhart, Jennifer C; Staudt, Michael D; Lawendy, Abdel-Rahman; Gurr, Kevin R; Bailey, Christopher S

2014-09-01

Immunohistochemical and behavioral study using a rat model of acute cauda equina syndrome (CES). To determine the effect of duration of extradural cauda equina compression (CEC) on bladder, sensory, and motor functions. Cauda equina syndrome is a devastating injury treated with surgical decompression. Controversy exists regarding the optimal timing of surgery. Animal models of CES have focused on motor recovery but have not evaluated pain behavior or bladder function. A 4-mm balloon-tipped Fogarty catheter was inserted between the fifth and sixth lumbar lamina into the dorsal epidural space and inflated to compress the nerve roots at the L5 level. Maximal inflation was maintained at a constant balloon pressure of 304 Kpa for 1 or 4 hours. The catheter was inserted but not inflated in sham animals. During a 4-week period, pain behavior, bladder function, and locomotor function were assessed. Postmortem bladders and the lesion site were collected for analysis. Mechanical allodynia was 2-fold greater in 1-hour CEC rats than 4-hour CEC (P=0.002) and sham-operated (P=0.001) rats at 4 weeks after injury. Hind limb locomotor function was not different between groups at 4 weeks after injury. Both the 1-hour and 4-hour CEC group rats retained greater volumes of urine than the sham-operated rats throughout the 4-week period (P<0.05). At 4 weeks, bladder weight and volume were 2-fold greater in the 4-hour CEC group than in the 1-hour CEC group (P=0.006 and P=0.01, respectively). Histology of the bladder wall revealed an overall thinning after 4-hour CEC. Histology of the lesion site revealed a greater overall severity of injury after 4-hour CEC than after 1-hour CEC (P=0.04) and sham operation (P=0.002). Our data suggest that recovery of motor function is less affected by the timing of decompression compared with bladder function and pain behavior. Early decompression preserved bladder function but was associated with allodynia. N/A.

Elsberg syndrome: A rarely recognized cause of cauda equina syndrome and lower thoracic myelitis.

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Savoldi, Filippo; Kaufmann, Timothy J; Flanagan, Eoin P; Toledano, Michel; Weinshenker, Brian G

2017-07-01

Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis.

Chondroblastoma of the Lumbar Vertebra Associated with Cauda Equina Compression

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Ewe-Juan Yeap

2013-12-01

Full Text Available Chondroblastoma is a benign tumour, most often affecting the epiphyses of long tubular bones such as the proximal end of the humerus, femur, and tibia, as well as the distal end of the femur. Vertebral involvement is extremely rare. We report a case of chondroblastoma of the second lumbar vertebra associated with cauda equina compression. Complete excision is necessary to relieve the compression and ensure surgical clearance.

Hereditary motor and sensory neuropathy with hypertrophy of the cauda equina and concomitant demyelinating white matter lesions

International Nuclear Information System (INIS)

Ertl-Wagner, B.B.; Staebler, A.; Reiser, M.

2005-01-01

Hereditary motor and sensory neuropathy (HMSN) is thought to almost exclusively affect the peripheral nervous system. We report the case of a 48-year-old patient with a longstanding history of HMSN type I who developed signs and symptoms of a cauda equina compression and of a central nervous system relapsing-remitting demyelinating white matter disease. Gross enlargement of the cauda equina fibers was detected by MR imaging of the lumbar spine. Cranial MR imaging revealed demyelinating white matter lesions. This case suggests that peripheral neuropathic mechanisms may also affect the central myelin in HMSN type I

Hereditary motor and sensory neuropathy with hypertrophy of the cauda equina and concomitant demyelinating white matter lesions

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Ertl-Wagner, B.B.; Staebler, A.; Reiser, M. [Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie; Helmchen, C. [Univ. Luebeck (Germany). Klinik fuer Neurologie; Fassmann, F. [Zentrum fuer Radiologie und Nuklearmedizin, Erlangen-Nuernberg (Germany)

2005-07-01

Hereditary motor and sensory neuropathy (HMSN) is thought to almost exclusively affect the peripheral nervous system. We report the case of a 48-year-old patient with a longstanding history of HMSN type I who developed signs and symptoms of a cauda equina compression and of a central nervous system relapsing-remitting demyelinating white matter disease. Gross enlargement of the cauda equina fibers was detected by MR imaging of the lumbar spine. Cranial MR imaging revealed demyelinating white matter lesions. This case suggests that peripheral neuropathic mechanisms may also affect the central myelin in HMSN type I.

Post-irradiation lumbosacral radiculopathy associated with multiple cavernous malformations of the cauda equina: Case report and review of the literature

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Drazin, Doniel; Kappel, Ari; Withrow, Stefan; Perry, Tiffany; Chu, Ray; Phuphanich, Surasak

2017-01-01

Background: Multiple radiation-induced cavernous malformations of the cauda equina are extremely rare. A review of the literature suggested that the post-irradiation lumbosacral radiculopathy in our patient was most likely associated with a diagnosis of multiple radiation-induced cavernous malformations of the cauda equina. Case Description: A 76-year-old man with a remote history of abdominal radiation therapy presented with a 6-month history of progressively worsening right foot drop and...

Magnetic resonance imaging of racemous cysticercosis of the cauda equina; Ressonancia magnetica de paciente com cisticercose racemosa da cauda equina

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Costa Junior, Leodante Batista da; Lemos, Sandro Pedroso [Hospital da Baleia, Belo Horizonte, MG (Brazil). Servico de Neurocirurgia; Lambertucci, Jose Roberto [Minas Gerais Univ., Belo Horizonte, MG (Brazil). Faculdade de Medicina. Servico de Doencas Infecciosas e Parasitarias

2003-12-01

37-year-old man presented with low back pain for the last 6 months followed by sensation of numbness in the lower limbs that evolved with paraparesis, urinary retention and impotence. Subsequently, he lost control over the bowel function. Neurological examination revealed increased muscle tone along with grade zero power in both lower limbs. Knee and ankle jerks were exaggerated. Nine months prior to admission, a type II diabetes mellitus was diagnosed and he has been taking insulin ever since. MRI revealed multiple cystic lesions in the cauda equina opposite the L1-S1 vertebral bodies with no involvement of the spinal cord (Figure A: sagittal section T1-weighted image after contrast with cystic lesions on the left side - yellow arrow -, and T2-weighted image on the right - red arrows pointing cystic lesions). The cysts were hypointense on T1-weighted images (Figure B: horizontal section - yellow arrows) and hyperintense in T2-weighted images (Figure A - red arrows). Computerized tomography of the brain showed moderate ventricle dilatation (Figure C) with no intra or extra axial lesions. He was submitted to laminectomy and the cysts were surgically removed. An intense inflammatory process (arachnoiditis) involving the nerve roots of the cauda equina was reported. Histology of the surgical specimen confirmed the diagnosis of racemous cysticercosis. He improved quickly after surgery. Three months later, at the outpatient clinic, he walked with support, resumed sphincter control of the bladder and bowel and had no more pain. Ten months later he returned to hospital walking with crutches, with hypoesthesia and paraesthesia on the left leg and urinary incontinence. He refused treatment with albendazole and steroids. (author)

Meningeal dissemination of a pituitary carcinoma to the cauda equina in a dog.

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Sheehan, Nora K; Rylander, Helena; Christensen, Neil; Nafe, Laura A

2017-08-01

An 8-year-old spayed female border collie dog was diagnosed with an invasive pituitary macrotumor. Five months after radiation therapy, the patient developed paraparesis and lumbosacral pain. Necropsy revealed a pituitary carcinoma with cauda equina drop metastasis. In cases of pituitary masses, meningeal dissemination should be considered if neurologic status declines.

Intraoperative neurophysiology of the conus medullaris and cauda equina.

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Kothbauer, Karl F; Deletis, Vedran

2010-02-01

. Electromyographic activity can be continuously observed during surgery, and monitoring concepts developed in cranial nerve surgery may be used in the cauda equina as well. A range of intraoperative neurophysiological techniques are available for neurophysiological testing of the neural structures of conus medullaris and cauda equina.

Cauda equina syndrome: is the current management of patients presenting to district general hospitals fit for purpose? A personal view based on a review of the literature and a medicolegal experience.

Science.gov (United States)

Todd, N V

2015-10-01

There is no universally agreed definition of cauda equina syndrome (CES). Clinical signs of CES including direct rectal examination (DRE) do not reliably correlate with cauda equina (CE) compression on MRI. Clinical assessment only becomes reliable if there are symptoms/signs of late, often irreversible, CES. The only reliable way of including or excluding CES is to perform MRI on all patients with suspected CES. If the diagnosis is being considered, MRI should ideally be performed locally in the District General Hospitals within one hour of the question being raised irrespective of the hour or the day. Patients with symptoms and signs of CES and MRI confirmed CE compression should be referred to the local spinal service for emergency surgery. CES can be subdivided by the degree of neurological deficit (bilateral radiculopathy, incomplete CES or CES with retention of urine) and also by time to surgical treatment (12, 24, 48 or 72 hour). There is increasing understanding that damage to the cauda equina nerve roots occurs in a continuous and progressive fashion which implies that there are no safe time or deficit thresholds. Neurological deterioration can occur rapidly and is often associated with longterm poor outcomes. It is not possible to predict which patients with a large central disc prolapse compressing the CE nerve roots are going to deteriorate neurologically nor how rapidly. Consensus guidelines from the Society of British Neurological Surgeons and British Association of Spinal Surgeons recommend decompressive surgery as soon as practically possible which for many patients will be urgent/emergency surgery at any hour of the day or night. ©2015 The British Editorial Society of Bone & Joint Surgery.

Magnetic resonance imaging of racemous cysticercosis of the cauda equina

International Nuclear Information System (INIS)

Costa Junior, Leodante Batista da; Lemos, Sandro Pedroso; Lambertucci, Jose Roberto

2003-01-01

37-year-old man presented with low back pain for the last 6 months followed by sensation of numbness in the lower limbs that evolved with paraparesis, urinary retention and impotence. Subsequently, he lost control over the bowel function. Neurological examination revealed increased muscle tone along with grade zero power in both lower limbs. Knee and ankle jerks were exaggerated. Nine months prior to admission, a type II diabetes mellitus was diagnosed and he has been taking insulin ever since. MRI revealed multiple cystic lesions in the cauda equina opposite the L1-S1 vertebral bodies with no involvement of the spinal cord (Figure A: sagittal section T1-weighted image after contrast with cystic lesions on the left side - yellow arrow -, and T2-weighted image on the right - red arrows pointing cystic lesions). The cysts were hypointense on T1-weighted images (Figure B: horizontal section - yellow arrows) and hyperintense in T2-weighted images (Figure A - red arrows). Computerized tomography of the brain showed moderate ventricle dilatation (Figure C) with no intra or extra axial lesions. He was submitted to laminectomy and the cysts were surgically removed. An intense inflammatory process (arachnoiditis) involving the nerve roots of the cauda equina was reported. Histology of the surgical specimen confirmed the diagnosis of racemous cysticercosis. He improved quickly after surgery. Three months later, at the outpatient clinic, he walked with support, resumed sphincter control of the bladder and bowel and had no more pain. Ten months later he returned to hospital walking with crutches, with hypoesthesia and paraesthesia on the left leg and urinary incontinence. He refused treatment with albendazole and steroids. (author)

Vasodilative effects of prostaglandin E1 derivate on arteries of nerve roots in a canine model of a chronically compressed cauda equina

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Konno Shin-ichi

2008-04-01

Full Text Available Abstract Background Reduction of blood flow is important in the induction of neurogenic intermittent claudication (NIC in lumbar spinal canal stenosis. PGE1 improves the mean walking distance in patients with NIC type cauda equina compression. PGE1 derivate might be effective in dilating blood vessels and improving blood flow in nerve roots with chronically compressed cauda equina. The aim of this study was to assess whether PGE1 derivate has vasodilatory effects on both arteries and veins in a canine model of chronic cauda equina compression. Methods Fourteen dogs were used in this study. A plastic balloon inflated to 10 mmHg was placed under the lamina of the 7th lumbar vertebra for 1 week. OP-1206-cyclodextrin clathrate (OP-1206-CD: prostaglandin E1 derivate was administered orally. The blood vessels of the second or third sacral nerve root were identified using a specially designed surgical microscope equipped with a video camera. The diameter of the blood vessels was measured on video-recordings every 15 minutes until 90 minutes after the administration of the PGE1 derivate. Results We observed seven arteries and seven veins. The diameter and blood flow of the arteries was significantly increased compared with the veins at both 60 and 75 minutes after administration of the PGE1 derivate (p Discussion The PGE1 derivate improved blood flow in the arteries but did not induce blood stasis in the veins. Our results suggest that the PGE1 derivate might be a potential therapeutic agent, as it improved blood flow in the nerve roots in a canine model of chronic cauda equina compression.

Síndrome de cauda eqüina produzida por melanoma

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J. Lamartine de Assis

Full Text Available The authors present a case of melanoma of the cauda equina which evolved during two years, starting with pain in the lower extremities and becoming at length a cauda equina syndrome, with bilateral sciatic pain, motor and sensorial signs and bladder and rectal disturbances. The tumor was only partially removed, on account of its infiltrating character. The patient died eleven months later. He had X-ray therapy soon after the operation. Autopsy was not performed but considering the clinical data, the localization and the type of the tumor, authors believe it connected by a primary melanoma of the lombar leptomeninges. A brief review of the literature is made.

Redundant nerve roots of cauda equina in clinically neurologically asymptomatic patients. A clinical and radiographic study

International Nuclear Information System (INIS)

Otoshi, Ken-ichi; Kikuchi, Shin-ichi; Konno, Shin-ichi; Arai, Itaru

2005-01-01

A radiographic study was conducted to determine the incidence of redundant nerve roots of the cauda equina (RNR) in neurologically asymptomatic patients, and to clarify whether RNR has an impact on the clinical symptom. 50 patients who had spine disease such as spondylosis and compression fracture were examined by MRI. They didn't have neurological symptom such as sciatica, leg numbness, and motor weakness of lower extremities. There were 18 men and 32 women, and their mean age was 72.4 years (range: 32-87 years). RNR was found in 18 of the 50 patients (36.0%) and in a higher percentage of the patients who had lumber spinal canal stenosis. We concluded that RNR was only a morphological change of the cauda equine and had little effect on the neurological symptom. (author)

Radiographic and tomographic aspects of meningeal hemangiosarcoma in a German Shepherd dog with clinical signs of cauda equina sindrome

International Nuclear Information System (INIS)

Pinto, A.C.B. de C.F.; Ferrigno, C.R.A.; Matera, J.M.; Torres, L.N.; Sinhorini, I.L.; Cortopassi, S.R.G.; Hage, M.C.F.N.S.

2007-01-01

Hemangiosarcoma is a highly malignant neoplasia derived from the endothelial cell line and, therefore, can arise in any tissue with blood vessels. A case of a rare meningeal site of hemangiosarcoma in an eight-year old German Shepherd dog with clinical signs of cauda equina sindrome is described. The diagnosis was made based on clinical, radiographic, tomographic and histopathological findings [pt

Reactive Arthritis Secondary to Cauda Equina Injury following Spine Fracture: A Case Report

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Xiao Li

2011-01-01

Full Text Available A 38-year-old man presented with a one-month history of muscle weakness and dysesthesia in the lower extremities, urinary retention, and urinary tract infection after lumbar burst fracture resulted from high fall. During the rehabilitation in our hospital, he had arthritis in both the ankle and knee. However, the patient was treated as gouty arthropathy initially. The arthritis was completely remitted in a few days after the patient was diagnosed as reactive arthritis and started with sulfasalazine therapy and there was no recurrence during 4 months of follow-up. Based on this case, early recognition of reactive arthritis is of major importance to avoid delayed initiation of appropriate treatment in the patients with polyarthritis secondary to neurogenic bladder following cauda equina injury after spine fracture.

Magnetic resonance imaging diagnosis of acute Guillain-Barré syndrome in children

Institute of Scientific and Technical Information of China (English)

Zhongjun Hou; Xiaojun Yu; Huimin Jiang; Xi Li; Bingyi Cao; Yaotang Chen; Jiao Chen

2011-01-01

The present study examined 24 children with acute Guillain-Barré syndrome using magnetic resonance imaging (MRI) plain scans and fat-suppressed enhanced T1-weighted imaging (T1WI)scans. Axial MRI plain scans centering on the medullary conus were positive in nine patients (38%).These displayed variable thickening involving the cauda equina with isointensity on T1WI and isointensity or slight hyperintensity on T2WI. False negatives were obtained in patients with cervical and cranial nerve symptoms. Contrast enhancement of T1WI with fat suppression w as positive in all patients in the cauda equina with varied thickening and enhancement centering on the medullary conus. Five patients (36%) were positive in the cervical nerves and 3 patients (50%) were positive in the cranial nerves. These patients had corresponding cervical and cranial nerve symptoms,respectively. Patients with serious clinical symptoms in the lower limbs exhibited obvious involvement of the cauda equina by MRI. Statistical analysis revealed a positive correlation between the extent of enlargement of the cauda equina, centering on the medullary conus, and cerebrospinal fluid protein concentration.

ROLE OF MEDICAL REHABILITATION IN CAUDA EQUINA SYNDROME WITH FLACCID PARAPARESIS AFTER SPINAL MENINGITIS. A CASE REPORT

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DOGARU Gabriela

2014-09-01

Full Text Available Patient L.I., aged 47 years, with multiple hospitalizations in November 2013 for multiple neurological and infectious diseases. In October 2011, surgery was performed for vicious posttraumatic right acetabular callus, confirmed by computed tomography. Subsequently, in November 2013, the patient had lumbar pain radiating to the lower limbs, functional impotence, sphincter incontinence, septic state with positive hemocultures for Staphylococcus aureus, with multiple paravertebral abscesses involving the left iliopsoas muscle, confirmed by contrast magnetic resonance imaging of the dorsolumbar spine, operated phlegmon of the left leg, which were interpreted as diffuse secondary spinal meningitis, complicated by a cauda equina syndrome, for which adequate antibiotic treatment was administered at the Clinic of Infectious Diseases Cluj-Napoca. The patient also presented two episodes of Clostridium difficile acute enterocolitis, with two fecal transplant sessions. In May 2014, the patient was admitted to the Rehabilitation Hospital Cluj-Napoca for motor deficit of the lower limbs, walking disorders, micturition disorders, sexual dynamic disorders, pain in the lumbar spine radiating to the lower limbs, sudden onset sensitivity disorders at D10 level in a febrile context in November 2013, interpreted based on lumbar MRI as spinal meningitis secondary to dorsal and lumbar paravertebral abscesses. During the course of hospitalization, the patient received a complex medical rehabilitation treatment consisting of kinetotherapy (posturations, passive mobilizations, active mobilizations, transfers, proprioceptive neuromuscular facilitation techniques, walking rehabilitation, respiratory gymnastics, rehabilitation of sensitivity disorders, occupational therapy, massage, medium frequency currents for the rehabilitation of micturition disorders, with good results particularly in walking and urinary incontinence rehabilitation. The aim of the presentation of this

Dumbbell-shaped Hodgkin's disease with cauda equina compression mimicking a herniated inter-vertebral disc, a case report.

Science.gov (United States)

Liao, Jen-Chung; Fu, Tsai-Sheng; Chen, Wen-Jer; Jung, Shih-Ming

2007-01-01

Hodgkin's disease may involve the spine as a setting of the advanced disease. An initial manifestation of Hodgkin's disease in spine is extremely rare and the major involved sites usually are the thoracic or cervical spine. The mechanisms of pathogenesis for the formation of an epidural mass during Hodgkin's disease are hematogenous dissemination from nodal sites or local infiltration of lymphomatous tissue. We document here a case of a 16 year-old boy who suffered from incomplete voiding due to dumbbell-shaped retroperitoneal Hodgkin's disease with cauda equina compression. He was successfully managed using surgery and adjuvant chemotherapy. Although lymphadenomatous tissue responds well to radiotherapy and chemotherapy, the role of surgery in this case was to achieve immediate nerve tissue decompression and to obtain an adequate specimen for pathological diagnosis. Magnetic resonance imaging (MRI) is a non-invasive and helpful tool when detecting spinal and paraspinal lesions and we emphasize that spinal MRI should be performed without delay if there is persistent back pain or sciatica.

Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B

NARCIS (Netherlands)

van Doormaal, Tristan P C; van Ruissen, Fred; Miller, Kai J; Hoogendijk, Jessica E

2016-01-01

Two siblings with Charcot-Marie-Tooth (CMT) 1B due to a c.517G>C (p.Gly173Arg) mutation in the MPZ gene both developed an acute cauda syndrome with unbearable back pain radiating to both legs, progressive muscle weakness of the legs, and saddle hypesthesia with fecal and urinary incontinence. MRI

Chronic Idiopathic Myelofibrosis Presenting as Cauda Equina Compression due to Extramedullary Hematopoiesis: A Case Report

Science.gov (United States)

Goh, Duck-Ho; Cho, Dae-Chul; Park, Seong-Hyun; Hwang, Jeong-Hyun; Sung, Joo-Kyung

2007-01-01

Extramedullary hematopoiesis (EMH) is occasionally reported in idiopathic myelofibrosis and is generally found in the liver, spleen, and lymph nodes several years after diagnosis. Myelofibrosis presenting as spinal cord compression, resulting from EMH tissue is very rare. A 39-yr-old man presented with back pain, subjective weakness and numbness in both legs. Sagittal magnetic resonance imaging showed multiple anterior epidural mass extending from L4 to S1 with compression of cauda equina and nerve root. The patient underwent gross total removal of the mass via L4, 5, and S1 laminectomy. Histological analysis showed islands of myelopoietic cells surrounded by fatty tissue, consistent with EMH, and bone marrow biopsy performed after surgery revealed hypercellular marrow and megakaryocytic hyperplasia and focal fibrosis. The final diagnosis was chronic idiopathic myelofibrosis leading to EMH in the lumbar spinal canal. Since there were no abnormal hematological findings except mild myelofibrosis, additional treatment such as radiothepary was not administered postoperatively for fear of radiotoxicity. On 6 month follow-up examination, the patient remained clinically stable without recurrence. This is the first case of chronic idiopathic myelofibrosis due to EMH tissue in the lumbar spinal canal in Korea. PMID:18162730

MR imaging in Guillain-Barre syndrome

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Iwata, F. [Dept. of Pediatrics, Tokyo Metropolitan Hiroo General Hospital (Japan); Utsumi, Y. [Dept. of Pediatrics, Tokyo Metropolitan Hiroo General Hospital (Japan)

1997-01-01

MRI in a 5-year-old girl with Guillain-Barre syndrome showed marked enhancement of nerve roots in the region of the conus medullaris and cauda equina. This enhancement gradually disappeared after high-dose immunoglobulin therapy. This characteristic finding of MRI may have diagnostic utility and represent the clinical course of the disease. (orig.). With 2 figs.

MR imaging in Guillain-Barre syndrome

International Nuclear Information System (INIS)

Iwata, F.; Utsumi, Y.

1997-01-01

MRI in a 5-year-old girl with Guillain-Barre syndrome showed marked enhancement of nerve roots in the region of the conus medullaris and cauda equina. This enhancement gradually disappeared after high-dose immunoglobulin therapy. This characteristic finding of MRI may have diagnostic utility and represent the clinical course of the disease. (orig.). With 2 figs

Magnetic Resonance Imaging Assessment of Spinal Cord and Cauda Equina Motion in Supine Patients With Spinal Metastases Planned for Spine Stereotactic Body Radiation Therapy

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Tseng, Chia-Lin [Department of Radiation Oncology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario (Canada); Department of Radiation Oncology, Princess Margaret Cancer Centre, University of Toronto, Toronto, Ontario (Canada); Sussman, Marshall S. [Department of Medical Imaging, University Health Network, University of Toronto, Toronto, Ontario (Canada); Atenafu, Eshetu G. [Department of Biostatistics, University Health Network, University of Toronto, Toronto, Ontario (Canada); Letourneau, Daniel [Department of Radiation Oncology, Princess Margaret Cancer Centre, University of Toronto, Toronto, Ontario (Canada); Ma, Lijun [Department of Radiation Oncology, University of California San Francisco, San Francisco, California (United States); Soliman, Hany; Thibault, Isabelle [Department of Radiation Oncology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario (Canada); Cho, B. C. John; Simeonov, Anna [Department of Radiation Oncology, Princess Margaret Cancer Centre, University of Toronto, Toronto, Ontario (Canada); Yu, Eugene [Department of Medical Imaging, University Health Network, University of Toronto, Toronto, Ontario (Canada); Fehlings, Michael G. [Department of Neurosurgery and Spine Program, Toronto Western Hospital, University of Toronto, Toronto, Ontario (Canada); Sahgal, Arjun, E-mail: arjun.sahgal@sunnybrook.ca [Department of Radiation Oncology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario (Canada); Department of Radiation Oncology, Princess Margaret Cancer Centre, University of Toronto, Toronto, Ontario (Canada)

2015-04-01

Purpose: To assess motion of the spinal cord and cauda equina, which are critical neural tissues (CNT), which is important when evaluating the planning organ-at-risk margin required for stereotactic body radiation therapy. Methods and Materials: We analyzed CNT motion in 65 patients with spinal metastases (11 cervical, 39 thoracic, and 24 lumbar spinal segments) in the supine position using dynamic axial and sagittal magnetic resonance imaging (dMRI, 3T Verio, Siemens) over a 137-second interval. Motion was segregated according to physiologic cardiorespiratory oscillatory motion (characterized by the average root mean square deviation) and random bulk shifts associated with gross patient motion (characterized by the range). Displacement was evaluated in the anteroposterior (AP), lateral (LR), and superior-inferior (SI) directions by use of a correlation coefficient template matching algorithm, with quantification of random motion measure error over 3 separate trials. Statistical significance was defined according to P<.05. Results: In the AP, LR, and SI directions, significant oscillatory motion was observed in 39.2%, 35.1%, and 10.8% of spinal segments, respectively, and significant bulk motions in all cases. The median oscillatory CNT motions in the AP, LR, and SI directions were 0.16 mm, 0.17 mm, and 0.44 mm, respectively, and the maximal statistically significant oscillatory motions were 0.39 mm, 0.41 mm, and 0.77 mm, respectively. The median bulk displacements in the AP, LR, and SI directions were 0.51 mm, 0.59 mm, and 0.66 mm, and the maximal statistically significant displacements were 2.21 mm, 2.87 mm, and 3.90 mm, respectively. In the AP, LR, and SI directions, bulk displacements were greater than 1.5 mm in 5.4%, 9.0%, and 14.9% of spinal segments, respectively. No significant differences in axial motion were observed according to cord level or cauda equina. Conclusions: Oscillatory CNT motion was observed to be relatively minor. Our results

The pharmacotherapy of low back pain

African Journals Online (AJOL)

pain: Cancer, Cauda Equina Syndrome, Herniated intervertebral disc, severe or progressive ... Is associated with new bowel or bladder problems. 7. Is accompanied by .... may inhibit carbonic anhydrase and the NMDA receptor. Peripherally it ...

Aneurysm, arachnoiditis and intrathecal Au (gold)

International Nuclear Information System (INIS)

Pence, D.M.; Kim, T.H.; Levitt, S.H.

1990-01-01

This report is a 20-year follow-up of 14 patients treated with external beam craniospinal irradiation and intrathecal gold (10-45 mCi) for medulloblastoma. Six of the patients died within 2 years of treatment from persistent disease. No patients are alive without complications. Six of eight surviving patients developed arachnoiditis and cauda equina syndrome within 5 to 10 years of treatment. Seven of eight survivors developed aneurysms and/or cerebrovascular accidents 9 to 20 years after treatment. Four of the cerebrovascular events were fatal. Intrathecal gold pools in the basal cisterns and cauda equina delivering an extremely inhomogeneous dose throughout the neuroaxis. Its use is discouraged

The pharmacotherapy of low back pain

African Journals Online (AJOL)

lower back pain: cancer, cauda equina syndrome, herniated intervertebral disc ... Is associated with new bowel or bladder problems. 7. Is accompanied by fever ... Orphenadrine is a nonselective mACh receptor antagonist and an H1 receptor ...

吉兰-巴雷综合征的MRI诊断%MRI diagnosis of Guillain Barre syndrome

Institute of Scientific and Technical Information of China (English)

侯仲军; 于晓君; 江慧敏; 利晞; 曹兵艺; 陈耀棠; 陈姣; 刘铃

2009-01-01

目的 分析吉兰-巴雷综合征(OBS)患者的MRI扫描特征和限度. 方法对15例GBS患者(急性14例、慢性1例)行MRI平扫和增强后脂肪抑制TIWI扫描,观察椎管内周围神经的MRI表现及其与临床特征的关系.结果 MRI平扫显示8例急性患者马尾神经不同程度的增粗,T1WI为中等信号,T2W1为等或略高信号,1例慢性患者全脊椎的脊神经和马尾神经增粗.增强扫描显示14例急性患者T以下出现部分脊神经和马尾神经不同程度的增粗、强化,其中2例伴有部分颈脊神经增粗、强化,2例伴有部分颅神经增粗、强化.1例慢性患者全脊椎的脊神经、马尾神经和部分颅神经增粗、强化;全部患者出现双下肢乏力,其中双下肢瘫痪9例,MRI增强扫描均显示马尾神经明显强化(100%);双上肢乏力7例,MRI阳性3例(43%);颅神经功能障碍6例,MRI阳性3例(50%).结论 MRI可以敏感检测GBS患者的马尾神经病变,但颈神经和颅神经受累易漏诊.%Objective To analyze the characteristics and limitations of MRI diagnosis of Guillian Barre syndrome. Methods Fifteen patients with Guillian Barre syndrome (14 in acute stage, 1 in chronic stage) were performed MRI plain scans and contrast-enhanced (CE) T1-weighted images (T1WI) with fat saturation to observe the relation between MRI manifestations and clinical characteristic in peripheral nerves in the vertebral canal. Results Eight patients in acute stage appeared cauda equina nerve thickening to a varying degree by MRI plain scan and the involved nerves showed isointensity on T1WI and isointensity or slight hypointensity on T2WI. In the chronic patient, the cauda equina and the spinal nerve at all the levels of the spinal cord showed obvious thickening. CE T1WI indicated partial spinal and canda equina nerves thickening to a varying degree below T8 level in 14 acute stage patients with 2 accompanied by partial cervical nerves thickening and 2 by partial cranial nerves thickening

A guidance channel seeded with autologous Schwann cells for repair of cauda equina injury in a primate model.

Science.gov (United States)

Calancie, Blair; Madsen, Parley W; Wood, Patrick; Marcillo, Alexander E; Levi, Allan D; Bunge, Richard P

2009-01-01

-seeded, implanted synthetic GC. Newer treatments, which include the use of absorbable polymers, neurotrophins, and antiscar agents, may further improve spinal nerve regeneration for repair of cauda equina injury.

Misdiagnosis of intraspinal lesions in childhood | Thompson | South ...

African Journals Online (AJOL)

Three children with intraspinal mass lesions in whom the diagnosis was initially missed are described. Their case histories highlight the specific clinical features of and diagnostic difficulties with the syndromes produced by lesions of the craniocervical junction, the mid-thoracic spinal cord and the cauda equina.

Assessment of lumbar spinal canal stenosis by magnetic resonance phlebography

International Nuclear Information System (INIS)

Manaka, Masakazu; Komagata, Masashi; Endo, Kenji; Imakiire, Atsuhiro

2003-01-01

There is evidence to suggest that cauda equina intermittent claudication is caused by local circulatory disturbances in the cauda equina as well as compression of the cauda equina. We evaluated the role of magnetic resonance phlebography (MRP) in identifying circulatory disturbances of the vertebral venous system in patients with lumbar spinal canal stenosis. Extensive filling defects of the anterior internal vertebral venous plexus were evident in patients with lumbar spinal canal stenosis (n=53), whereas only milder abnormalities were noted in patients with other lumber diseases (n=16) and none in normal subjects (n=13). The extent of the defect on MRP correlated with the time at which intermittent claudication appeared. In patients with lumber spinal canal stenosis, extensive defects of the internal vertebral venous plexus on MRP were noted in the neutral spine position, but the defect diminished with anterior flexion of the spine. This phenomenon correlated closely with the time at which intermittent claudication appeared. Our results highlight the importance of MRP for assessing the underlying mechanism of cauda equina intermittent claudication in patients with lumbar spinal canal stenosis and suggest that congestive venous ischemia is involved in the development of intermittent claudication in these patients. (author)

Laminectomy-induced arachnoradiculitis: a postoperative serial MRI study

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Matsui, H [Departments of Orthopaedic Surgery, Toyama Medical and Pharmaceutical University, Faculty of Medicine, Toyama (Japan); Tsuji, H [Departments of Orthopaedic Surgery, Toyama Medical and Pharmaceutical University, Faculty of Medicine, Toyama (Japan); Kanamori, M [Departments of Orthopaedic Surgery, Toyama Medical and Pharmaceutical University, Faculty of Medicine, Toyama (Japan); Kawaguchi, Y [Departments of Orthopaedic Surgery, Toyama Medical and Pharmaceutical University, Faculty of Medicine, Toyama (Japan); Yudoh, K [Departments of Orthopaedic Surgery, Toyama Medical and Pharmaceutical University, Faculty of Medicine, Toyama (Japan); Futatsuya, R [Departments of Radiology, Toyama Medical and Pharmaceutical University, Faculty of Medicine, Toyama (Japan)

1995-11-01

Time-related changes of laminectomy-induced cauda equina adhesions were investigated by MRI in ten patients with degenerative spinal disease who underwent posterior surgery to the lumbar spine; seven had disc herniations and three spinal stenosis. Axial MRI was performed before and 3, 7, 21 and 42 days after surgery. Cauda equina adhesions were most severe at the laminectomised levels L3-4, L4-5 and L5-S1 (n = 16); partial adhesions were found in 9 of 16 levels at 6 weeks after surgery. At the L3-4 or L5-S1 levels (n = 14), the area of laminar exposure without laminectomy, the cauda equina adhesions continued 1 week after surgery, but thereafter resolved; only partial adhesions were seen at 5 of 14 levels 6 weeks after surgery. Shrinkage of the arachnoid sac was also found at the level of the laminectomy, but it re-expanded 3 weeks after surgery in all cases. Cauda equina adhesions and shrinkage of the sac were correlated closely with laminectomy, with or without discectomy, suggesting that an inflammatory process of deep wound healing may be involved in the mechanism of a laminectomy-induced arachnoradiculitis which may be correlated with postoperative leg symptoms. (orig.). With 7 figs., 1 tab.

Laminectomy-induced arachnoradiculitis: a postoperative serial MRI study

International Nuclear Information System (INIS)

Matsui, H.; Tsuji, H.; Kanamori, M.; Kawaguchi, Y.; Yudoh, K.; Futatsuya, R.

1995-01-01

Time-related changes of laminectomy-induced cauda equina adhesions were investigated by MRI in ten patients with degenerative spinal disease who underwent posterior surgery to the lumbar spine; seven had disc herniations and three spinal stenosis. Axial MRI was performed before and 3, 7, 21 and 42 days after surgery. Cauda equina adhesions were most severe at the laminectomised levels L3-4, L4-5 and L5-S1 (n = 16); partial adhesions were found in 9 of 16 levels at 6 weeks after surgery. At the L3-4 or L5-S1 levels (n = 14), the area of laminar exposure without laminectomy, the cauda equina adhesions continued 1 week after surgery, but thereafter resolved; only partial adhesions were seen at 5 of 14 levels 6 weeks after surgery. Shrinkage of the arachnoid sac was also found at the level of the laminectomy, but it re-expanded 3 weeks after surgery in all cases. Cauda equina adhesions and shrinkage of the sac were correlated closely with laminectomy, with or without discectomy, suggesting that an inflammatory process of deep wound healing may be involved in the mechanism of a laminectomy-induced arachnoradiculitis which may be correlated with postoperative leg symptoms. (orig.). With 7 figs., 1 tab

Anterior dural ectasia mimicking a lytic lesion in the posterior vertebral body in ankylosing spondylitis.

Science.gov (United States)

Bele, Keerthiraj; Pendharkar, Hima Shriniwas; Venkat, Easwer; Gupta, Arun Kumar

2011-12-01

Anterior dural ectasia is an extremely rare finding in ankylosing spondylitis (AS). The authors describe a unique case of AS in which the patient presented with cauda equina syndrome as well as an unusual imaging finding of erosion of the posterior aspect of the L-1 (predominantly) and L-2 vertebral bodies due to anterior dural ectasia. Symptomatic patients with long-standing AS should be monitored for the presence of dural ectasia, which can be anterior in location, as is demonstrated in the present case.

Community-Acquired Serratia Marcescens Spinal Epidural Abscess in a Patient Without Risk Factors: Case Report and Review

Directory of Open Access Journals (Sweden)

Michael D Parkins

2008-01-01

Full Text Available Serratia marcescens has rarely been reported as an agent of invasive disease in patients presenting from the community. Furthermore, S marcescens is frequently opportunistic, affecting individuals with serious medical comorbidities including immune suppression and diabetes. A case of a community-acquired S marcescens spontaneous lumbar epidural abscess presenting as cauda equina syndrome is reported in a previously well 36-year-old man with no identifiable risk factors. To the authors’ knowledge, this is the first report of invasive S marcescens causing disease in a patient with no medical comorbidities.

Computed tomography in lumbar canal stenosis

International Nuclear Information System (INIS)

Ohta, Shu; Baba, Itsushi; Ishida, Akihisa; Sumida, Tadayuki; Sasaki, Seishu

1984-01-01

Preoperative CT was done in 39 patients with lumbar canal stenosis. Marked symmetrical narrowing of the whole vertebral canal was seen in the group with nervous symptoms in the cauda equina. Deformed bilateral intervertebral joints were seen in the group with both nervous symptoms in the cauda equina and radicular sciatica. The lateral recess on the affected side was markedly narrowed by the projection of the upper and lower joints and herniation. In the group with radicular sciatica, the vertebral canal itself was not so narrowed, but the unilateral intervertebral joint was extremely deformed, causing a narrowing of the lateral recess. There were large differences in the angle of the left and right intervertebral joints. (Namekawa, K)

Computed tomography in lumbar canal stenosis. Relationship between its findings and clinical symptoms

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Ohta, Shu; Baba, Itsushi; Ishida, Akihisa; Sumida, Tadayuki; Sasaki, Seishu (Hiroshima Shiritsu Asa Shimin Hospital (Japan))

1984-09-01

Preoperative CT was done in 39 patients with lumbar canal stenosis. Marked symmetrical narrowing of the whole vertebral canal was seen in the group with nervous symptoms in the cauda equina. Deformed bilateral intervertebral joints were seen in the group with both nervous symptoms in the cauda equina and radicular sciatica. The lateral recess on the affected side was markedly narrowed by the projection of the upper and lower joints and herniation. In the group with radicular sciatica, the vertebral canal itself was not so narrowed, but the unilateral intervertebral joint was extremely deformed, causing a narrowing of the lateral recess. There were large differences in the angle of the left and right intervertebral joints.

Elsberg syndrome

Science.gov (United States)

Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

2017-01-01

Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

Transitional lumbosacral vertebral anomaly in the dog: a radiographic study

International Nuclear Information System (INIS)

Morgan, J.P.

1999-01-01

Transitional lumbosacral vertebral anomalies have for some time been suggested as a possible cause of cauda equina syndrome (especially in the German shepherd dog [GSD]), a condition recently thought to be inherited. The frequency of this condition within a large clinical population and the radiographic features used in its detection are reported. In a group of 143 patients, the sexes were similarly represented and the GSD was greatly over represented. The anomaly is characterised by separation of the first sacral segment that was identified on the lateral view by the presence of a radiolucent disc space between what are normally the first and second sacral segments. On the ventrodorsal view, the anomaly was characterised by separation of the spinous processes between what are normally the first and second sacral segments. In the presence of the transitional segment, the nature of the sacroiliac joint at the level of the anomalous segment varies from a strong ilial attachment, with the presence of a wing-like lateral process, to a weakened ilial attachment because of the presence of a lateral process, shaped as that seen on a lumbar segment. These patterns were present unilaterally or bilaterally and result in symmetrical or asymmetrical patterns. The effect of the weakening of the sacroiliac attachment was thought to result in premature disc degeneration, which, together with spinal canal stenosis, resulted in potential compression of the overlying spinal nerves and creation of a cauda equina syndrome. The condition is thought to have clinical significance and should be selected against in breeding, especially in the GSD

Imaging findings in patients with ventral dural defects and herniation of neural tissue

International Nuclear Information System (INIS)

Baur, A.; Staebler, A.; Reiser, M.; Psenner, K.; Hamburger, C.

1997-01-01

The aim of this paper is to describe clinical and imaging findings in three patients with ventral dural defects and herniation of the spinal cord or cauda equina. The literature is reviewed and the clinical, radiological and operative findings are compared. Three patients with ventral dural defects of different etiologies are presented. One patient gave a longstanding history of ankylosing spondylitis, the second patient presents 37 years after spinal trauma, and the third patient presents with spontaneous spinal cord herniation. All patients had typically slowly progressive neurological symptoms with multiple hospitalizations until diagnosis was made. Characteristic findings in postmyelographic CT included a ventral or ventrolateral displacement with deformation of the spinal cord or the cauda equina. Sagittal MRI showed this abrupt and localized anterior deviation of the spinal cord or the cauda equina to the posterior portions of a vertebral body with or without a bony vertebral defect optimally. Additionally, due to the ventral displacement of the spinal cord, the dorsal subarachnoid space was relatively enlarged without evidence of an arachnoid cyst, in all patients. Magnetic resonance imaging and postmyelographic CT can diagnose ventral dural defects with spinal cord herniation or nerve root entrapment. Dural defects must be considered in the presence of neurological symptoms in cases of longstanding ankylosing spondylitis, late sequelae of fractures of vertebral bodies, and without history of spinal trauma or surgery. (orig.). With 3 figs

The rising root sign: the magnetic resonance appearances of post-operative spinal subdural extra-arachnoid collections

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Bharath, A.; Uhiara, O.; Botchu, Rajesh; Davies, A.M.; James, S.L. [The Royal Orthopedic Hospital, Department of Musculoskeletal Radiology, Birmingham (United Kingdom)

2017-09-15

We present a case series of symptomatic post-operative spinal subdural extra-arachnoid collections that displace the cauda equina roots anteriorly. This is described as the ''rising root sign''. (orig.)

Tarlov cyst: Case report and review of literature

Directory of Open Access Journals (Sweden)

Prashad Bhagwat

2007-01-01

Full Text Available We describe a case of sacral perineural cyst presenting with complaints of low back pain with neurological claudication. The patient was treated by laminectomy and excision of the cyst. Tarlov cysts (sacral perineural cysts are nerve root cysts found most commonly in the sacral roots, arising between the covering layer of the perineurium and the endoneurium near the dorsal root ganglion. The incidence of Tarlov cysts is 5% and most of them are asymptomatic, usually detected as incidental findings on MRI. Symptomatic Tarlov cysts are extremely rare, commonly presenting as sacral or lumbar pain syndromes, sciatica or rarely as cauda equina syndrome. Tarlov cysts should be considered in the differential diagnosis of patients presenting with these complaints.

Dual lumbar bronchogenic and arachnoid cyst presenting with sciatica and left foot drop.

Science.gov (United States)

Candy, Nicholas; Young, Adam; Devadass, Abel; Dean, Andrew; McMillen, Jason; Trivedi, Rikin

2017-10-01

Spinal bronchogenic cysts are rare findings, with only four cases of lumbar bronchogenic cysts reported in the literature. All of these bronchogenic cysts involved the conus medullaris. We present the first case of a lumbar bronchogenic cyst and arachnoid cyst arising from the cauda equina in a 68-year-old male. Uniquely, this bronchogenic cyst also contained components of an arachnoid cyst. Magnetic resonance imaging (MRI) demonstrated a compressive cystic lesion at the level of the L3 vertebra splaying the cauda equina. An L3/L4 laminectomy was performed with marsupialisation of the cyst. Histological examination revealed pseudostratified ciliated columnar epithelium confirming the diagnosis of a bronchogenic cyst, as well as a pleated fibrovascular tissue lined by sparsely spaced small monomorphic arachnoidal cells, indicating an arachnoid cyst. We demonstrate that bronchogenic cysts can be successfully treated with marsupialisation.

A definition of “uncomplicated bone metastases” based on previous bone metastases radiation trials comparing single-fraction and multi-fraction radiation therapy

Directory of Open Access Journals (Sweden)

Paul M. Cheon

2015-03-01

“Uncomplicated” bone metastases can be defined as: presence of painful bone metastases unassociated with impending or existing pathologic fracture or existing spinal cord or cauda equina compression. Therefore, MF and SF have equal efficacy in patients with such bone metastases.

Gastric and small intestinal dysfunction in spinal cord injury patients.

Science.gov (United States)

Fynne, L; Worsøe, J; Gregersen, T; Schlageter, V; Laurberg, S; Krogh, K

2012-02-01

Many patients with spinal cord injury (SCI) suffer from constipation, abdominal pain, nausea, or bloating, and colonic transit times are prolonged in most. Gastric and small intestinal dysfunction could contribute to symptoms but remain to be described in detail. Also, it is obscure whether the level of SCI affects gastric and small intestinal function. To study orocecal transit time and gastric emptying (GE) in patients with SCI. Nineteen patients with SCI (7 ♀, median age 54 years) and 15 healthy volunteers (9 ♀, median age 32 years) were included. All were referred because of neurogenic bowel problems. Eleven patients had low SCI (located at conus medullaris or cauda equina) affecting only the parasympathetic nerves to the left colon and eight had high SCI (above Th6) affecting parasympathetic and sympathetic innervation. Subjects ingested a small magnetic pill that subsequently was tracked by the Motility Tracking System - MTS-1 (Motilis, Lausanne, Switzerland). Orocecal transit time was longer than normal both in individuals with high lesions (P < 0.01) and in individuals with low lesions (P < 0.01). Individuals with high lesions had slower GE than those with conal/cauda equina lesions (P < 0.05). Basic contractile frequencies of the stomach and small intestine were unaffected by SCI. Surprisingly, upper gastrointestinal transit is prolonged in subjects with SCI suffering from bowel problems, not only in subjects with cervical or high thoracic lesions but also in subjects with conal/cauda equina lesions. We speculate that this is secondary to colonic dysfunction and constipation. © 2011 John Wiley & Sons A/S.

Selective posterior lumbosacral rhizotomy for the management ...

African Journals Online (AJOL)

tion in 95% of cases. The majority showed ... selective posterior rhizotomy technique whereby the cauda equina ... assessed pre- and postoperatively by means of clinical examination ... were attending cerebral palsy schools and receiving spe- cialised ... root sections on cats demonstrated clearly that posterior root section ...

Low back pain and physiotherapy use of red flags: the evidence from Scotland.

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Ferguson, Fraser; Holdsworth, Lesley; Rafferty, Danny

2010-12-01

Red flags are recognised as indicators of possible serious spinal pathology, and their use is indicated by numerous guidelines. Similar to other countries worldwide, Scotland lacked a national view about the overall quality of the physiotherapy management of low back pain and the use of red flags. Anecdotal evidence suggested that practice varied considerably. To improve the use and documentation of red flags by physiotherapists during the assessment and management of low back pain. Prospective, multicentred, national data collection and improvement initiative. National Health Service (NHS) health boards in Scotland (n=14) plus two private provider sites. One hundred and eighty-six individual NHS provider sites and two private provider sites, with in excess of 360 physiotherapists providing services to low back pain patients. Measurement of documented practice in line with evidence- and consensus-based recommendations from guidelines collected via a web-based tool over two 5-week audit cycles interspersed with an improvement phase over 1 year (2008-2009). Data from 2147 patients showed improvement in the documentation of all red flags assessed from 33% (n=709) to 65% (n=1396), and improvement in the documentation of cauda equina syndrome from 60% (n=1288) to 84% (n=1804) over the two cycles. Only two regions provided evidence of 100% documentation of all components of cauda equina syndrome, with wide variation across the country. This national initiative resulted in considerable improvement in the documentation of red flags. Despite this, however, one in five patients did not receive optimal management as recommended by guidance. This has significant implications for patient safety and highlights the need for ongoing education of physiotherapists in this area. Copyright © 2010 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved.

Comparison between computed tomographic and surgical findings in nine large-breed dogs with lumbosacral stenosis

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Jones, J.C.; Sorjonen, D.C.; Simpson, S.T.; Coates, J.R.; Lenz, S.D.; Hathcock, J.T.; Agee, M.W.; Bartels, J.E.

1996-01-01

In a three-year prospective study, computed tomographic (CT) and surgical findings were compared for nine large breed dogs with lumbosacral stenosis. Surgically-excised tissue was examined histologically in seven dogs and additional necropsy evaluation was performed in one dog. The CT abnormalities observed at sites of confirmed cauda equina compression were: loss of epidural fat, increased soft tissue opacity, bulging of the intervertebral disc margin, spondylosis, thecal sac displacement, narrowed intervertebral foramen, narrowed vertebral canal, thickened articular process, articular process subluxation, articular process osteophyte, and telescoped sacral lamina. The CT characteristics of lumbosacral degenerative disease and discospondylitis were similar to those described in humans. In three dogs, CT findings at the site of cauda equina compression were consistent with congenital or developmental spinal stenosis, but the method of surgical exposure precluded confirmation. Epidural fibrosis (eight dogs) and multi-level CT abnormalities (six dogs) were identified but the cause(s) and significance were unknown

Multifocal Spinal Cord Nephroblastoma in a Dog.

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Henker, L C; Bianchi, R M; Vargas, T P; de Oliveira, E C; Driemeier, D; Pavarini, S P

2018-01-01

A 1-year-old male American pit bull terrier was presented with a history of proprioceptive deficits and mild lameness of the right hindlimb, which progressed after 5 months to paraparesis, culminating in tetraparesis after 2 weeks. Necropsy findings were limited to the spinal cord and consisted of multiple, intradural, extramedullary, slightly red masses which produced segmental areas of medullary swelling located in the cervical intumescence, thoracolumbar column, sacral segment and cauda equina. Histological evaluation revealed a tumour, composed of epithelial, stromal and blastemal cells, with structures resembling tubules, acini and embryonic glomeruli. Immunohistochemical labelling for vimentin, cytokeratin and S100 was positive for the stromal, epithelial and blastemal cells, respectively. A final diagnosis of multifocal spinal cord nephroblastoma was established. This is the first report of such a tumour showing concomitant involvement of the cervicothoracic, thoracolumbar, sacral and cauda equina areas of the spinal cord. Copyright © 2017 Elsevier Ltd. All rights reserved.

Magnetic resonance imaging in the diagnosis of degenerative lumbosacral stenosis in four dogs

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Haan, J.J. de; Shelton, S.B.; Ackerman, N.

1993-01-01

Magnetic resonance imaging was used to diagnose degenerative lumbosacral stenosis in four dogs that had physical and neurologic signs consistent with a cauda equina lesion. Nerve root displacement by protruding disc material and loss of epidural fat were identified. In all dogs, the diagnosis was confirmed by dorsal laminectomy of the lumbosacral area

Is repair of the protruded meninges sufficient for treatment of meningocele?

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Yun-Hai, Song; Nan, Bao; Ping-Ping, Gao; Bo, Yang; Cheng, Chen

2015-11-01

The present study aimed to investigate the relationship between meningocele and tethered cord syndrome, diagnosis of meningocele associated with tethered cord syndrome, and when to perform surgery and the best surgical procedure. Sixty-nine children with meningocele who were admitted to Shanghai Children's Medical Center were analyzed. The relationship between meningocele and other lesions causing tethered cord syndrome was studied by combining magnetic resonance imaging (MRI) and intraoperative findings. The MRI results and intraoperative findings showed that 67 children (97%) had associated lesions such as tight filum terminale, fibrous band tethering, spinal cord or cauda equina adhesion, diastematomyelia, arachnoid cyst, and epidermoid cyst. The protruded meninges were repaired, and the intraspinal lesions were treated at the same time. Also, the tethered spinal cord was released. No neurological injuries were observed after surgery. The rate of meningocele associated with tethered cord syndrome is very high. MRI is necessary for the diagnosis of meningocele. Active surgical treatment is recommended immediately after definite diagnosis. During surgery, the surgeon should not only repair the protruded meninges but also explore the spinal canal and release the tethered cord.

Motor conduction velocity in the human spinal cord: slowed conduction in multiple sclerosis and radiation myelopathy

International Nuclear Information System (INIS)

Snooks, S.J.; Swash, M.

1985-01-01

Transcutaneous electrical stimulation of the central nervous system was used to measure motor conduction velocity in the human spinal cord in 21 subjects aged 22 to 75 years (mean 55 years), none of whom had neurological disease. The motor conduction velocity between the sixth cervical (C6) and first lumbar (L1) vertebral levels was 67.4+-9.1 m/s. This probably represents conduction velocity in the corticospinal tracts. In these subjects the motor conduction velocity in the cauda equina, between the first lumbar (L1) and fourth lumbar (L4) vertebral levels, was 57.9+-10.3 m/s. In four of five patients with multiple sclerosis, all with corticospinal signs in the legs, motor conduction velocity between C6 and L1 was slowed (41.8+-16.8 m/s), but cauda equina conduction was normal (55.8+-7.8 m/s). Similar slowing of spinal cord motor conduction was found in a patient with radiation myelopathy. This method should provide a relevant, simple clinical test in patients with spinal cord disease. (author)

Posterior epidural disc fragment masquerading as spinal tumor: Review of the literature.

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Park, Taejune; Lee, Ho Jun; Kim, Jae Seong; Nam, Kiyeun

2018-03-09

Posterior epidural lumbar disc fragment is infrequent because of anatomical barriers, and it is difficult to diagnose posterior epidural lumbar disc fragment because of its rare incidence and the ambiguity of radiologic evaluations. And it is difficult to differentiate it from other diseases such as spinal tumors. Differential diagnosis of posterior epidural lumbar disc fragment is clinically important because its diagnosis can affect treatment and prognosis. To investigate the incidence, anatomical concern, etiology, symptom, diagnostic tool, management and prognosis of posterior epidural lumbar disc fragment, we reviewed articles including case report. We performed a search of all clinical studies of posterior epidural lumbar disc fragment published to date. The following keywords were searched: Posterior epidural lumbar disc fragment, disc migration, posterior epidural disc, extradural migration, dorsal epidural migration, sequestrated disc, and disc fragment. We identified 40 patients of posterior epidural lumbar disc fragment from 28 studies. The most common presentation of posterior epidural lumbar disc fragment was sudden onset radiculopathy (70.0%), followed by cauda equina syndrome (27.5%). The most frequently used diagnostic modality was magnetic resonance imaging (MRI), conducted in 36 cases (90.0%), and followed by computed tomography in 14 cases (35.0%). After the imaging studies, the preoperative diagnoses were 45.0% masses, 20.0% lesions, and 12.5% tumors. Characteristic MRI findings in posterior epidural lumbar disc fragment are helpful for diagnosis; it typically displays low signals on T1-weighted images and high signals on T2-weighted images with respect to the parent disc. In addition, most of the disc fragments show peripheral rim enhancement on MRI with gadolinium administration. Electrodiagnostic testing is useful for verifying nerve damage. Surgical treatment was performed in all cases, and neurologic complications were observed in 12.5%. As

Na Cauda do Cometa

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Voelzke, M. R.

2009-01-01

Quando viam um cometa, os antigos gregos imaginavam uma estrela com uma vasta cabeleira. Não à toa, a palavra deriva do termo koma, que significa cabelo. Constituídos por fragmentos de gelo e gases, os cometas possuem um núcleo sólido, que pode ter vários quilômetros de diâmetro, e uma cauda que sempre aponta na direção contrária ao Sol, devido aos ventos solares. Graças à aparência de pontos luminosos em movimento (ao contrário de outros astros, que parecem estáticos), esses corpos celestes foram interpretados por diferentes povos com muito misticismo, inspirando mitos tanto de boas-novas como de maus presságios. Conheça algumas dessas histórias:

ASOCIACIÓN SEROLÓGICA DE LA RINONEUMONITIS VIRAL EQUINA Y LA ANEMIA INFECCIOSA EQUINA

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Albeiro López-Herrera

2008-04-01

Full Text Available Objetivo. Determinar el nivel de asociación serológica entre los herpesvirus equinos tipos 1 y 4 (HVE-1 y HVE-4 causantes de la rinoneumonitis equina y el virus de la anemia infecciosa equina (VAIE en caballos de trabajo provenientes de 5 municipios del Meta. Materiales y métodos. Se realizó una encuesta serológica transversal en 68 equinos provenientes de los municipios de San Martín, Guamal, Restrepo, Cumaral y Paratebueno. Para la evaluación de los anticuerpos contra los HVE-1 y HVE-4, se utilizó un ELISA indirecto para detectar la presencia de anticuerpos dirigidos contra la glicoproteína G del HVE-1 y HVE-4 (Svanovir ™ EHV1/EHV4-Ab ELISA; para el diagnóstico de anticuerpos contra el VAIE se utilizó la prueba de inmunodifusión en agar de gel de Coggins. Resultados. No se encontraron reactores al HVE-1; sin embargo, el porcentaje de seropositividad fue de 94.12% (64/68 y 13.2%(9/68 para HVE-4 y VAIE respectivamente. El porcentaje de animales coinfectados HVE-4 y AIE fue 13.23% (9/68. Cuando se discriminaron los resultados por Municipio se encontró un 27.9% (19/68 de reactividad en el municipio de Restrepo, 26.5% (18/68 en Cumaral, 14.7% (10/68 en Paratebueno, 14.7% (10/68 en Guamal, y 10.3% (7/68 en San Martin. El porcentaje de reactores por municipio al VAIE fue Cumaral 5.88% (4/68, Restrepo 4.4% (3/68, Guamal 1.47%(1/68 y San Martín 1.47% (1/68. Conclusión. El alto porcentaje de coinfección entre HVE-4 y VAIE sugiere un efecto importante en la interacción, pues el efecto inmunosupresor del VAIE podría facilitar la reactivación del estado latente del HVE-4.

Rehabilitation R and D Progress Reports, 1991

Science.gov (United States)

1991-01-01

CPR or discussion of welcomed an opportunity to discuss CPR/DNR with diet . Patients were assessed for depression, anxiety, their doctor and to express...abnormal auditory canal caloric stimulation, at night) and during ADL in which the environment sinusoidal vertical axis rotation, and dynamic moves (e.g...of Hypotension and Acute Graded Compression onrecovery conditions following a combined hypo - Cauda Equina Nerve Root Function (Abstract). Garfin SR

The role of Gd-enhanced three-dimensional MRI fast low-angle shot (FLASH) in the evaluation of symptomatic lumbosacral nerve roots

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Kikkawa, Ichiro; Sugimoto, Hideharu; Saita, Kazuo; Ookami, Hitoshi; Nakama, Sueo; Hoshino, Yuichi [Jichi Medical School, Minamikawachi, Tochigi (Japan)

2001-07-01

In the field of lumbar spine disorders, three-dimensional (3-D) magnetic resonance imaging (MRI) can clearly depict a lumbar nerve root from the distal region to the dorsal root ganglion. In this study, we used a gadoliniumdiethylenetriaminepentaacetic acid (Gd-DTPA) enhanced-three-dimensional (3-D) fast low-angle shot (FLASH) sequence when examining lumbosacral disorders. The subjects were 33 patients (14 men and 19 women) in whom lumbosacral neural compression had been diagnosed clinically. Twenty-one patients had lumbar disc herniation, 11 had lumbar spinal stenosis, and 1 had lumbar radiculopathy caused by rheumatoid arthritis. Five subjects with low back pain were also studied as a control group. In all patients and in all 5 of the controls, the dorsal root ganglion of every root was enhanced clearly. There was no root enhancement in the 5 controls. Enhancement of the symptomatic nerve roots, caused by compression, was found in 11 of the 33 patients. All 11 patients had rediculopathy, and muscle weakness was more frequent in patients with enhanced nerve roots than in those without enhancement. There was no enhancement of the cauda equina, even in the patients with cauda syndrome. The enhancement effect may reflect some pathological condition of the compressed nerve root and needs to be studied further. (author)

The role of Gd-enhanced three-dimensional MRI fast low-angle shot (FLASH) in the evaluation of symptomatic lumbosacral nerve roots

International Nuclear Information System (INIS)

Kikkawa, Ichiro; Sugimoto, Hideharu; Saita, Kazuo; Ookami, Hitoshi; Nakama, Sueo; Hoshino, Yuichi

2001-01-01

In the field of lumbar spine disorders, three-dimensional (3-D) magnetic resonance imaging (MRI) can clearly depict a lumbar nerve root from the distal region to the dorsal root ganglion. In this study, we used a gadoliniumdiethylenetriaminepentaacetic acid (Gd-DTPA) enhanced-three-dimensional (3-D) fast low-angle shot (FLASH) sequence when examining lumbosacral disorders. The subjects were 33 patients (14 men and 19 women) in whom lumbosacral neural compression had been diagnosed clinically. Twenty-one patients had lumbar disc herniation, 11 had lumbar spinal stenosis, and 1 had lumbar radiculopathy caused by rheumatoid arthritis. Five subjects with low back pain were also studied as a control group. In all patients and in all 5 of the controls, the dorsal root ganglion of every root was enhanced clearly. There was no root enhancement in the 5 controls. Enhancement of the symptomatic nerve roots, caused by compression, was found in 11 of the 33 patients. All 11 patients had rediculopathy, and muscle weakness was more frequent in patients with enhanced nerve roots than in those without enhancement. There was no enhancement of the cauda equina, even in the patients with cauda syndrome. The enhancement effect may reflect some pathological condition of the compressed nerve root and needs to be studied further. (author)

The Effects of Ocean Acidification on Feeding and Contest Behaviour by the Beadlet Anemone Actinia equina

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Bamber, Tess Olivia; Jackson, Angus Charles; Mansfield, Robert Philip

2018-05-01

Increasing concentrations of atmospheric carbon dioxide are causing oceanic pH to decline worldwide, a phenomenon termed ocean acidification. Mounting experimental evidence indicates that near-future levels of CO2 will affect calcareous invertebrates such as corals, molluscs and gastropods, by reducing their scope for calcification. Despite extensive research into ocean acidification in recent years, the effects on non-calcifying anthozoans, such as sea anemones, remain little explored. In Western Europe, intertidal anemones such as Actinia equina are abundant, lower trophic-level organisms that function as important ecosystem engineers. Changes to behaviours of these simple predators could have implications for intertidal assemblages. This investigation identified the effects of reduced seawater pH on feeding and contest behaviour by A. equina. Video footage was recorded for A. equina feeding at current-day seawater (pH 8.1), and the least (pH 7.9) and most (pH 7.6) severe end-of-century predictions. Footage was also taken of contests over ownership of space between anemones exposed to reduced pH and those that were not. No statistically significant differences were identified in feeding duration or various aspects of contest behaviour including initiating, winning, inflating acrorhagi, inflicting acrorhagial peels and contest duration. Multivariate analyses showed no effect of pH on a combination of these variables. This provides contrast with other studies where anemones with symbiotic algae thrive in areas of natural increased acidity. Thus, novel experiments using intraspecific contests and resource-holding potential may prove an effective approach to understand sub-lethal consequences of ocean acidification for A. equina, other sea anemones and more broadly for marine ecosystems.

Spinal extradural arachnoid cysts

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Abolfazl Rahimizadeh

2013-01-01

Full Text Available OBJECTIVE: Extradural arachnoid cysts (EACs are rare causes of spinal cord compression and cauda equina. These benign lesions appear in the literature mainly as single case reports. In this article, we present the largest series found in literature, with four new cases of spinal extradural arachnoid cysts. The characteristic imaging features, details of surgical steps and strategies to prevent postoperative kyphosis in this cystic pathology will be discussed.

Nuclear magnetic resonance (NMR) examination of the normal spinal cord at 1. 5 Tesla

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Halimi, P.; Sigal, R.; Doyon, D.; Melki, P.; Francke, J.P.

1988-01-01

The remarkable analytical power of NMR imaging applied to the study of the spinal cord and the adjacent regions, and especially by means of high-field devices, requires a very precise knowledge of the anatomy. The spinal cord is analysed in its diverse regions: bulbomedullar junction, cervical and dorsal, conus medullaris and cauda equina in the various planes (sagittal, axial and frontal), which are confronted with anatomical sections.

Nuclear magnetic resonance (NMR) examination of the normal spinal cord at 1.5 Tesla

International Nuclear Information System (INIS)

Halimi, P.; Sigal, R.; Doyon, D.; Melki, P.; Francke, J.P.

1988-01-01

The remarkable analytical power of NMR imaging applied to the study of the spinal cord and the adjacent regions, and especially by means of high-field devices, requires a very precise knowledge of the anatomy. The spinal cord is analysed in its diverse regions: bulbomedullar junction, cervical and dorsal, conus medullaris and cauda equina in the various planes (sagittal, axial and frontal), which are confronted with anatomical sections [fr

Peste equina: descrizione di focolai di malattia in Namibia

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Massimo Scacchia

2009-06-01

Full Text Available La peste equina è una malattia virale degli equidi trasmessa da vettori. Scopo di questo lavoro è di riferire su casi di malattia verificatisi in Namibia nel corso degli anni 2006-2008, osservati dal personale dell'Istituto Zooprofilattico Sperimentale dell'Abruzzo e del Molise “G. Caporale” e del Central Veterinary Laboratory di Windhoek, Namibia e confermati dagli esami di laboratorio. Il lavoro è stato possibile anche grazie alla fattiva collaborazione stabilitasi con i veterinari pubblici, privati e allevatori Namibiani.

A case of post-irradiation lumbosacral radioculopathy successfully treated with corticosteroid and warfarin

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Anezaki, Toshiharu; Harada, Takashi; Kawachi, Izumi; Sanpei, Kazuhiro; Soma, Yoshiaki; Tsuji, Shoji [Niigata Univ. (Japan). Brain Research Inst

1999-08-01

A 33-year-old man underwent post-operative radiation therapy for the left testicular anaplastic seminoma. One year later, the patient developed muscle weakness and sensory disturbance in the left lower extremity, and muscle weakness in the right lower extremity. MRI demonstrated linear and focal gadolinium (Gd) enhancement of the anterior portion of the lumbosacral roots within the cauda equina. The neurological symptoms improved after administration of corticosteroid and warfarin. Radiation myelopathy of this type was classified as ''selective anterior horn cell injury or amyotrophy'' by Reagan, and the site of the lesion was considered to be the lower motor neurons. However, based on the clinical and MRI findings, we proposed that the disease process was injury to the spinal nerve roots rather than the lower motor neurons. Recent neuropathological studies of this syndrome have demonstrated degeneration of the proximal spinal nerve roots. We consider that primary lesions of this syndrome occur in spinal nerve roots rather than in lower motor neurons, and ''lumbosacral radiculopathy'' is a more appropriate term for this condition. (author)

A case of post-irradiation lumbosacral radioculopathy successfully treated with corticosteroid and warfarin

International Nuclear Information System (INIS)

Anezaki, Toshiharu; Harada, Takashi; Kawachi, Izumi; Sanpei, Kazuhiro; Soma, Yoshiaki; Tsuji, Shoji

1999-01-01

A 33-year-old man underwent post-operative radiation therapy for the left testicular anaplastic seminoma. One year later, the patient developed muscle weakness and sensory disturbance in the left lower extremity, and muscle weakness in the right lower extremity. MRI demonstrated linear and focal gadolinium (Gd) enhancement of the anterior portion of the lumbosacral roots within the cauda equina. The neurological symptoms improved after administration of corticosteroid and warfarin. Radiation myelopathy of this type was classified as ''selective anterior horn cell injury or amyotrophy'' by Reagan, and the site of the lesion was considered to be the lower motor neurons. However, based on the clinical and MRI findings, we proposed that the disease process was injury to the spinal nerve roots rather than the lower motor neurons. Recent neuropathological studies of this syndrome have demonstrated degeneration of the proximal spinal nerve roots. We consider that primary lesions of this syndrome occur in spinal nerve roots rather than in lower motor neurons, and ''lumbosacral radiculopathy'' is a more appropriate term for this condition. (author)

Bases ósseas e musculares dos cortes comerciais da cauda de jacaré-do-Pantanal (Caiman yacare Daudin 1802

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S.I.S. Figueiredo

2015-06-01

Full Text Available A exploração comercial de jacaré-do-Pantanal (Caiman yacare constitui importante cadeia produtiva no Estado de Mato Grosso. As características nutricionais e representatividade na massa corporal de crocodilianos tornaram a região da cauda objeto de estudos morfofisiológicos, evolutivos e tecnológicos. Como inexiste a caracterização anatômica dos músculos e ossos que constituem os cortes comerciais dessa região, objetivou-se descrever os músculos e correspondentes bases ósseas da cauda. Na descrição óssea, foram utilizados um exemplar adulto e seis juvenis. Para caracterização muscular, 24 espécimes juvenis foram conservados em freezer e dissecados a fresco, em ambos os antímeros, para verificação de simetria de ocorrência, fixações musculares, relacões de sintopia, forma e arquitetura muscular. As vértebras caudais são procélicas, exceto a primeira da série, e possuem na superfície ventral do corpo áreas para articulação com os processos hemais, exceto a primeira e as quatro ou cinco últimas. Os cortes comerciais da região são o filé de cauda, composto pelos músculos semiespinhal caudal, longuíssimo caudal, ilioisquiocaudal, caudofemoral longo, transverso e profundo da cauda, enquanto o corte ponta de cauda é constituído pelos músculos longuíssimo caudal e ilioisquiocaudal, com as cinco ou seis últimas vértebras caudais.

One Patient, Two Uncommon B-Cell Neoplasms: Solitary Plasmacytoma following Complete Remission from Intravascular Large B-Cell Lymphoma Involving Central Nervous System

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Joycelyn Lee

2014-01-01

Full Text Available Second lymphoid neoplasms are an uncommon but recognized feature of non-Hodgkin’s lymphomas, putatively arising secondary to common genetic or environmental risk factors. Previous limited evaluations of clonal relatedness between successive mature B-cell malignancies have yielded mixed results. We describe the case of a man with intravascular large B-cell lymphoma involving the central nervous system who went into clinical remission following immunochemotherapy and brain radiation, only to relapse 2 years later with a plasmacytoma of bone causing cauda equina syndrome. The plasmacytoma stained strongly for the cell cycle regulator cyclin D1 on immunohistochemistry, while the original intravascular large cell lymphoma was negative, a disparity providing no support for clonal identity between the 2 neoplasms. Continued efforts atcataloging and evaluating unique associations of B-cell malignancies are critical to improving understanding of overarching disease biology in B-cell malignancies.

Posterior epidural migration of sequestered lumbar disc fragment causing cauda equina syndrome Migración epidural posterior de fragmento de disco lumbar secuestrado que causa síndrome de cauda equina Migração epidural posterior de fragmento de disco lombar sequestrado que causa síndrome da cauda equina

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Abolfazl Rahimizadeh

2013-01-01

Full Text Available Posterior epidural migration (PEM of a sequestered free lumbar disc fragment is rare. The rarity is due to presence of several anatomical restraints which restrict a free fragment to move to the posterior compartment. This unusual presentation of disc herniation appeared in the literature either as a single case report or in small series from two to six cases. Herein two new demonstrative cases will be presented with a brief review of the literature.La migración epidural (PEM posterior Epidural Migration de fragmento de disco lumbar libre secuestrado es rara. La rareza se debe a la existencia de varias restricciones anatómicas impidiendo que el fragmento libre se mueva hacia el compartimento posterior. Esa presentación no común de hernia de disco apareció en la literatura como un relato de caso único o en pequeñas series de dos a seis casos. En este artículo, se presentan dos casos nuevos demostrativos, conjuntamente con una revisión breve de la literatura.A migração epidural posterior (PEM posterior epidural migration de fragmento de disco lombar livre sequestrado é rara. A raridade deve-se à presença de várias restrições anatômicas que impedem que o fragmento livre se mova para o compartimento posterior. Essa apresentação incomum de hérnia de disco apareceu na literatura como relato de caso único ou em pequenas séries de dois a seis casos. Neste artigo, são apresentados dois novos casos demonstrativos, com uma breve revisão da literatura.

Multiple schwannomas of cauda equine in the absence of von Recklinghausen's disease

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Kayaoglu, Cetin R.; Sengul, G.; Aydin, Ismail H.

2007-01-01

Multiple schwannomas in the absence of neurofibromatosis is rarely reported in the literature. We present a 56-year-old female with a history of severe leg and back pain on the left side for one year. Magnetic resonance imaging revealed 4 schwannomas located in the cauda equine in the absence of von Recklinghausen's disease. (author)

Hypertrophic Synovitis of the Facet Joint Causing Root Pain

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Koichi Iwatsuki M.D.

2008-01-01

Full Text Available Osteoarthritic changes in the facet joints are common in the presence of degenerative disc disease. Changes in the joint capsule accompany changes in the articular surfaces. Intraspinal synovial cysts that cause radicular pain, cauda equina syndrome, and myelopathy have been reported; however, there have been few reports in orthopedic or neurosurgical literature regarding hypertrophic synovitis of the facet joint presenting as an incidental para-articular mass. Here, we report a case of hypertrophic synovitis causing root pain. We describe the case of a 65-year-old man suffering from right sciatica and right leg pain in the L5 nerve-root dermatome for 1 year; magnetic resonance imaging (MRI revealed an enhanced mass around the L4–5 facet joint. We investigated this mass pathologically. After right medial facetectomy, the symptoms resolved. Pathological investigation revealed this mass was hypertrophic synovitis. Hypertrophic synovitis of the facet joint might cause root pain.

Characteristic MRI and MR Myelography Findings for the Facet Cyst Hematoma at T12-L1 Spine: A Case Report

International Nuclear Information System (INIS)

Chung, Seung Eun; Lee, Sang Ho; Kim, Tae Hong; Choi, Gun; Paeng, Sung Suk

2011-01-01

A facet cyst is a very rare condition in the thoracolumbar spine and more so, hemorrhage into a cyst is extremely rare. We present a case of a facet cyst hematoma in the T12-L1 spine. A 69-year-old woman complained of chronic back pain with right lower extremity pain, and weakness for 3 years. MRI and MR myelography showed an extradural mass at the T12-L1 level with heterogeneous signal intensity on both T1-and T2-weighted images, which was continuous to the right T12-L1 facet joint. The neighboring facet joint showed severe degeneration on the CT scan. The mass a was simple hematoma covered with a thin fibrous membrane and connected with facet joint macroscopically and microscopically. The pathogenesis of the facet cyst hematoma is not clear but it can compress nerve roots or dura mater and cause radiculopathy or cauda equina syndrome. Surgical removal should be recommended for symptomatic relief.

Characteristic MRI and MR Myelography Findings for the Facet Cyst Hematoma at T12-L1 Spine: A Case Report

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Chung, Seung Eun [Dept of Diagnostic Radiology, Wooridul Spine Hospital, Seoul (Korea, Republic of); Lee, Sang Ho [Dept. of Neurosurgery, Wooridul Spine Hospital, Seoul (Korea, Republic of); Kim, Tae Hong [Dept. of Neurosurgery, Sanggye Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of); Choi, Gun [Dept. of Neurosurgery, Seoul Wooridul Hospital, Seoul (Korea, Republic of); Paeng, Sung Suk [Dept of Radiology, Wooridul Spine Hospital, Seoul (Korea, Republic of)

2011-05-15

A facet cyst is a very rare condition in the thoracolumbar spine and more so, hemorrhage into a cyst is extremely rare. We present a case of a facet cyst hematoma in the T12-L1 spine. A 69-year-old woman complained of chronic back pain with right lower extremity pain, and weakness for 3 years. MRI and MR myelography showed an extradural mass at the T12-L1 level with heterogeneous signal intensity on both T1-and T2-weighted images, which was continuous to the right T12-L1 facet joint. The neighboring facet joint showed severe degeneration on the CT scan. The mass a was simple hematoma covered with a thin fibrous membrane and connected with facet joint macroscopically and microscopically. The pathogenesis of the facet cyst hematoma is not clear but it can compress nerve roots or dura mater and cause radiculopathy or cauda equina syndrome. Surgical removal should be recommended for symptomatic relief.

Chronic spinal subdural hematoma; Spinales chronisches subdurales Haematom

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Hagen, T.; Lensch, T. [Radiologengemeinschaft, Augsburg (Germany)

2008-10-15

Compared with spinal epidural hematomas, spinal subdural hematomas are rare; chronic forms are even more uncommon. These hematomas are associated not only with lumbar puncture and spinal trauma, but also with coagulopathies, vascular malformations and tumors. Compression of the spinal cord and the cauda equina means that the patients develop increasing back or radicular pain, followed by paraparesis and bladder and bowel paralysis, so that in most cases surgical decompression is carried out. On magnetic resonance imaging these hematomas present as thoracic or lumbar subdural masses, their signal intensity varying with the age of the hematoma. We report the clinical course and the findings revealed by imaging that led to the diagnosis in three cases of chronic spinal subdural hematoma. (orig.) [German] Spinale subdurale Haematome sind im Vergleich zu epiduralen Haematomen selten, chronische Verlaufsformen noch seltener. Ursaechlich sind neben Lumbalpunktionen und traumatischen Verletzungen auch Blutgerinnungsstoerungen, Gefaessmalformationen und Tumoren. Aufgrund der Kompression von Myelon und Cauda equina kommt es zu zunehmenden Ruecken- oder radikulaeren Schmerzen mit anschliessender Paraparese sowie einer Darm- und Blasenstoerung, weshalb in den meisten Faellen eine operative Entlastung durchgefuehrt wird. Magnetresonanztomographisch stellen sich die Haematome meist als thorakale bzw. lumbale subdurale Raumforderungen dar, die Signalintensitaet variiert mit dem Blutungsalter. Wir berichten ueber den klinischen Verlauf und die bildgebende Diagnostik von 3 Patienten mit spinalen chronischen subduralen Haematomen. (orig.)

Elaeophora in the meninges of a Malayan sambar (Rusa unicolor equina).

Science.gov (United States)

Bernard, Jennifer; Grunenwald, Caroline; Stalis, Ilse H; Varney, Megan; Zuba, Jeff; Gerhold, Richard

2016-11-01

An adult nematode was grossly identified in the meninges of a Malayan sambar (Rusa unicolor equina), with numerous microfilariae associated with encephalitis and vasculitis on histopathology. The nematode was confirmed to be Elaeophora schneideri by sequencing a portion of the 18S rRNA gene. Our report highlights the potential for aberrant migration of E. schneideri in exotic deer species and the use of advanced testing to specifically identify this metazoan parasite, avoiding misidentification of Parelaphostrongylus tenuis. © 2016 The Author(s).

Myelography, CT and MRI in leukaemic infiltration of the lumbar theca

International Nuclear Information System (INIS)

Shen, W.C.; Lee, S.K.; Ho, Y.J.; Lee, K.R.

1993-01-01

A 25-year-old woman with acute lymphoblastic leukaemia, while in remission, developed paraparesis, with faecal and urinary incontinence. CT demonstrated increased density of the lumbar theca and enlargement of the nerve roots. Myelography showed complete obstruction below the L3 level. MRI showed increased signal intensity in the lumbar sac on T1 weighting, and the cauda equina enhanced with gadolinium-DTPA. Lymphoblasts were seen in the lumbar spinal fluid. After chemoterhapy, these abnormalities resolved, as did the paraparesis and incontinence. (orig.)

Extramedullary haematopoiesis in Thalassaemia: results of radiotherapy: a report of three patients

International Nuclear Information System (INIS)

Pistevou-Gompaki, K.; Paraskevopoulos, P.; Kotsa, K.; Skaragas, G.; Repanta, E.

1996-01-01

Extramedullary haematopoiesis is sometimes encountered in serve anaemia. Rarely, it may cause neurological symptoms, leading to spinal cord or cauda equina compression. Three patients with thalassaemia intermedia, who developed neurological complications, are described. The diagnoses were based on the clinical findings, computed tomography and magnetic resonance imaging. Small doses of radiotherapy (10-20 Gy in 5-10 fractions) relieved symptoms in all of these patients. Our experience supports the role of radiation therapy as a treatment for this complication. (Author)

American Spinal Injury Association A (sensory and motor complete) is not different from American Spinal Injury Association B (sensory incomplete, motor complete) in gunshot-related spinal cord injury.

Science.gov (United States)

McCoy, Eric; Eftekhary, Nima; Nwosu, Kenneth; Fukunaga, Dudley; Liu, Charles; Rolfe, Kevin

2017-12-01

percentage requiring surgery, nor for thoracic A versus B. When grouped, there was a statistically higher occurrence of pressure ulcers in cervical A or B classification than in thoracic A or B classification, but a higher rate of surgery for thoracic A or B classification. Lumbosacral cauda equina levels were not statistically different in occurrence of pressure ulcers or pressureulcer surgery by ASIA grades A-D. Overall, when grouped C1-T12, cord-level cervicothoracic A and B classifications were statistically equivalent. C1-T12 cord level C or D classification with motor sparing had statistically lower occurrence and need of surgery for pressure ulcers and were equivalent to lumbosacral cauda equina level A-D. ASIA A and B distinctions are not meaningful at spinal cord levels in the cervicothoracic spine due to gunshot wounds as shown by similar occurrence of pressure ulcers and pressure ulcer surgery, and should be treated as if the same. Meaningful decrease of pressure ulcers at cord levels does not occur until there is motor sparing ASIA C or D. Furthermore, cauda equina lumbosacral injuries are a lower risk, which is independent of ASIA grade A-D and statistically equivalent to cord level C or D. Motor sparing at cord levels or any cauda equina level is most determinative neurologically for the occurrence of pressure ulcers or pressure ulcer surgery. Copyright © 2017 Elsevier Inc. All rights reserved.

Utilização de gastroscopia no despiste da EGUS / SUGE (Equine Gastric Ulcer Syndrome / Síndrome de Úlcera Gástrica Equina)

OpenAIRE

Simões, Joana de Sousa Azevedo

2011-01-01

Dissertação de Mestrado Integrado em Medicina Veterinária A Síndrome de Úlcera Gástrica Equina (SUGE) tem recebido nas últimas décadas uma atenção crescente, devido à sua elevada prevalência, e às suas repercussões económicas e no bem-estar dos animais. Pensa-se que a SUGE terá uma etiologia multifactorial, envolvendo vários factores de risco que predispõem à lesão da mucosa ao alterarem a acidez gástrica, a concentração de ácidos gordos voláteis ou o aporte sanguíneo. São c...

Spinal epidural hematomas examined on MRI

International Nuclear Information System (INIS)

Rejnowski, G.; Poniatowska, R.; Kozlowski, P.

1995-01-01

Spinal epidural hematomas are rare pathology, caused by trauma or spontaneous. In clinical examination acute spinal cord compression is observed. MRI designations appear entirely particular. In sagittal projection, biconvex mass in the dorsal, or sometimes ventral part of the spinal canal is clearly visible. This is well delineated by the thecal sac from the cord and cauda equina. MRI investigations in 3 patients revealed corresponding with spinal bone injuries and cord edema epidural hematomas. Differential diagnosis must contain subdural hematoma and epidural neoplasms or abscess. (author)

Secondary superficial siderosis of the central nervous system in a patient presenting with sensorineural hearing loss

International Nuclear Information System (INIS)

Lemmerling, M.; De Praeter, G.; Mollet, P.; Mortele, K.; Kunnen, M.; Mastenbroek, G.

1998-01-01

We present a 50-year-old man who was investigated for sensorineural hearing loss. On MRI of the brain superficial siderosis of the central nervous system was seen, while MRI of the spine revealed an ependymoma of the cauda equina. This case illustrates the importance of performing T2-weighted imaging of the brain and posterior fossa when sensorineural hearing loss is present. Spine imaging is mandatory when superficial siderosis of the brain is diagnosed without identification of a bleeding source in the brain. (orig.)

Review and retrospective analysis of degenerative lumbosacral stenosis in 156 dogs treated by dorsal laminectomy.

Science.gov (United States)

Suwankong, N; Meij, B P; Voorhout, G; de Boer, A H; Hazewinkel, H A W

2008-01-01

The medical records of 156 dogs with degenerative lumbosacral stenosis (DLS) that underwent decompressive surgery were reviewed for signalment, history, clinical signs, imaging and surgical findings. The German Shepherd Dog (GSD) was most commonly affected (40/156, 25.6%). Pelvic limb lameness, caudal lumbar pain and pain evoked by lumbosacral pressure were the most frequent clinical findings. Radiography showed lumbosacral step formation in 78.8% (93/118) of the dogs which was associated with elongation of the sacral lamina in 18.6% (22/118). Compression of the cauda equina was diagnosed by imaging (epidurography, CT, or MRI) in 94.2% (147/156) of the dogs. Loss of the bright nucleus pulposus signal of the L7-S1 disc was found on T2-weighted MR images in 73.5% (25/34) of the dogs. The facet joint angle at L7-S1 was significantly smaller, and the tropism greater in GSD than in the other dog breeds. The smaller facet joint angle and higher incidence of tropism seen in the GSD may predispose this breed to DLS. Epidurography, CT, and MRI allow adequate visualization of cauda equina compression. During surgery, disc protrusion was found in 70.5% (110/156) of the dogs. Overall improvement after surgery was recorded in the medical records in 79.0% (83/105) of the dogs. Of the 38 owners that responded to questionnaires up to five years after surgery, 29 (76%) perceived an improvement.

Spinal epidural hematomas examined on MRI; Krwiaki nadtwardowkowe, wewnatrzkanalowe w badaniu metoda MR

Energy Technology Data Exchange (ETDEWEB)

Rejnowski, G.; Poniatowska, R.; Kozlowski, P. [Zaklad Neuroradiologii, Inst. Psychiatrii i Neurologii, Warsaw (Poland)

1995-12-31

Spinal epidural hematomas are rare pathology, caused by trauma or spontaneous. In clinical examination acute spinal cord compression is observed. MRI designations appear entirely particular. In sagittal projection, biconvex mass in the dorsal, or sometimes ventral part of the spinal canal is clearly visible. This is well delineated by the thecal sac from the cord and cauda equina. MRI investigations in 3 patients revealed corresponding with spinal bone injuries and cord edema epidural hematomas. Differential diagnosis must contain subdural hematoma and epidural neoplasms or abscess. (author) 8 refs, 3 figs

Persistent lesion hyperintensity on brain diffusion-weighted MRI is an early sign of intravascular lymphoma.

Science.gov (United States)

Kageyama, Takashi; Yamanaka, Haruo; Nakamura, Fumihiko; Suenaga, Toshihiko

2017-06-08

A 63-year-old man presented with right-sided hemianopia and unsteady gait. Brain MRI revealed multiple hyperintense infarct-like lesions on diffusion-weighted images (DWI). Hyperintensity persisted in some of these lesions even after 6 weeks, although his symptoms were ameliorated then. The patient developed episodic dizziness and a transient event of apraxia at 18 weeks after the first episode. Brain MRI revealed additional hyperintense lesions on DWI, which persisted even after 7 weeks. Eventually, the patient manifested cauda equina syndrome 39 weeks after the first episode. Brain MRI showed the presence of new lesions in addition to the persistent hyperintense lesions on DWI over 21 weeks in the right frontal lobe. Based on laboratory findings and the pathological assessment of bone marrow and random skin biopsies, the patient was diagnosed with intravascular lymphoma (IVL). Persistent hyperintense lesions on DWI of brain MRI may precede the clinical exacerbation of IVL. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Hérnia discal lombar Lumbar disc herniation

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Luis Roberto Vialle

2010-01-01

Full Text Available A hérnia discal lombar é o diagnóstico mais comum dentre as alterações degenerativas da coluna lombar (acomete 2 a 3% da população e a principal causa de cirurgia de coluna na população adulta. O quadro clínico típico inclui lombalgia inicial, seguida de lombociatalgia e, finalmente, de dor ciática pura. A história natural da hérnia de disco é de resolução rápida dos sintomas (quatro a seis semanas. O tratamento inicial deve ser conservador, com manejo medicamentoso e fisioterápico, podendo ser acompanhado ou não por bloqueios percutâneos radiculares. O tratamento cirúrgico está indicado na falha do controle da dor, déficit motor maior que grau 3, dor radicular associada à estenose óssea foraminal ou síndrome de cauda equina, sendo esta última uma emergência médica. Uma técnica cirúrgica refinada, com remoção do fragmento extruso, e preservação do ligamento amarelo, resolve a sintomatologia da ciática e reduz a possibilidade de recidiva em longo prazo.Lumbar disc herniation is the most common diagnosis amongst the degenerative conditions of the lumbar spine (affecting around 2 to 3% of the population, and is the principal cause of spine surgery in the adult population. The typical clinical picture includes initial lumbalgia, followed by progressive sciatica. The natural history of disc herniation is one of rapid resolution of the symptoms (from 4-6 weeks. Early treatment should be conservative, with pain management and physiotherapy, sometimes associated with selective nerve root block. Surgery should be considered if pain management is unsuccessful, if there is a motor deficit (strength grade 3 or less, where there is radicular pain associated with foraminal stenosis, or in the presence of cauda equina syndrome, the latter representing a medical emergency. A refined surgical technique, with removal of the extruded fragment and preservation of the ligamentum flavum, resolves the sciatic symptoms and reduces

Vulnerabilidad a la introducción y transmisión local de la Encefalitis Equina Venezolana. Delicias, 2009

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Yoenny Peña García

2015-11-01

Full Text Available La Encefalitis Equina Venezolana (EEV es una enfermedad infecciosa, causada por un arbovirus de la familia Togaviridae, es transmitida del caballo o aves al hombre a través de picaduras de mosquitos, constituyendo una zoonosis. Cuba presta colaboración internacionalista en países donde esta enfermedad es endémica y considerada peligrosa, desde el punto de vista económico y sanitario. Se realizó  un estudio epidemiológico, para determinar la vulnerabilidad de introducción y transmisión local de la Encefalitis Equina Venezolana en el Área de Salud Delicias en el año 2009. Se utilizaron las siguientes variables: país de procedencia del colaborador, géneros de culícidos transmisores, población equina y se determinaron zonas de riesgo. Se identificaron tres países endémicos, el que mayor cantidad de colaboradores tuvo fue Venezuela, con 66 (85,7%, seguido de Ecuador y Haití, que solo tuvieron 1 (1,3%. El Consejo Popular 3 es el que más colaboradores en zonas endémicas poseyó (50, para un 87,7%. En el área se identificaron 11 géneros de mosquitos, de ellos cuatro transmisores de la EEV (Culex, Mansonia, Psorophora, y Anopheles, la población de equinos se distribuye en todo el territorio. Constituyen las zonas de mayor riego para la transmisión local de la enfermedad la parte noreste del poblado de Delicias y el poblado de San Manuel, determinándose 12 comunidades atendidas por Consultorios Médicos de Familia de alto riesgo para la transmisión local.

Primary intradural mesenchymal chondrosarcoma of the spine in a child

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Li, Yu-Hua [Shanghai Jiao Tong University, Department of Radiology, Xin Hua Hospital, School of Medicine, Shanghai (China); Yao, Xiao-Hong [Shanghai Jiao Tong University, Department of Pathology, Xin Hua Hospital, School of Medicine, Shanghai (China)

2007-11-15

We report a primary intradural mesenchymal chondrosarcoma of the spine in a 3-year-old girl. MRI revealed a markedly enhancing oval mass associated with focal areas of low signal intensity extending from T11 to L1. The lesion was located posterolateral to the right side of the spinal cord, pushing the conus medullaris and cauda equina anteriorly and to the left. The adjacent spinal cord also showed serpiginous areas of flow void. The mass was completely removed. Microscopic examination and immunohistochemical studies confirmed the diagnosis of mesenchymal chondrosarcoma. The patient was free of symptoms after surgery. (orig.)

Primary intradural mesenchymal chondrosarcoma of the spine in a child

International Nuclear Information System (INIS)

Li, Yu-Hua; Yao, Xiao-Hong

2007-01-01

We report a primary intradural mesenchymal chondrosarcoma of the spine in a 3-year-old girl. MRI revealed a markedly enhancing oval mass associated with focal areas of low signal intensity extending from T11 to L1. The lesion was located posterolateral to the right side of the spinal cord, pushing the conus medullaris and cauda equina anteriorly and to the left. The adjacent spinal cord also showed serpiginous areas of flow void. The mass was completely removed. Microscopic examination and immunohistochemical studies confirmed the diagnosis of mesenchymal chondrosarcoma. The patient was free of symptoms after surgery. (orig.)

Eventos de Desconexao na Cauda de Plasma do Cometa P/Halley

Science.gov (United States)

Voelzke, M. R.; Fahr, H. J.

2001-08-01

Observacoes cometárias e de vento solar sao comparadas com o propósito de determinar-se as condicoes do vento solar associadas aos eventos de desconexao (DEs) observados em caudas de plasma cometárias. Os dados cometários sao provenientes do The International Halley Watch Atlas of Large-Scale Phenomena. A análise visual sistemática das imagens do atlas revelou, entre outras estruturas morfológicas, 47 DEs ao longo da cauda de plasma do P/Halley. Estes 47 DEs registrados em 47 imagens distintas permitiram a descoberta de 19 origens de DEs, ou seja, o tempo em que as desconexoes iniciaram foi calculado. Os dados do vento solar sao provenientes de medidas feitas in situ pela sonda espacial IMP-8, as quais foram usadas para elaborar a variacao da velocidade do vento solar, densidade e pressao dinâmica durante o intervalo analisado. O presente trabalho compara as atuais teorias conflitantes, baseadas nos mecanismos de formacao, com o intuito de explicar o fenômeno cíclico dos DEs, ou seja, os efeitos de producao iônica, os efeitos de pressao e os efeitos de reconexao magnética sao analisados. Para cada uma das 19 origens de DEs comparou-se a densidade com a respectiva velocidade do vento solar com o intuito de determinar-se uma possível correlacao entre estas origens e os efeitos de pressao dinâmica. Quando da ocorrência de 6 origens de DEs o IMP-8 nao realizou medidas, nos outros 13 casos 10 origens (77%) mostraram uma anticorrelacao entre velocidade e densidade e apenas 3 (23%) revelaram uma tendência similar entre velocidade e densidade. Portanto, a análise inicial demonstra uma fraca correlacao entre as origens dos DEs e os efeitos de pressao.

Magnetic resonance imaging in the management of suspected spinal canal disease in patients with known malignancy

International Nuclear Information System (INIS)

Loughrey, Gareth J.; Collins, Conor D.; Todd, Susan M.; Brown, Nicola M.; Johnson, Richard J.

2000-01-01

AIM: The aim of this study was to examine the spectrum of spinal canal disease in patients with known malignancy using magnetic resonance imaging (MRI). MATERIALS AND METHODS: One hundred and fifty-five patients underwent a total of 159 spinal MRI examinations over a three-year period. Patients were examined using a 1.0T magnet and a phased array surface spine coil. Sagittal T1 weighted spin echo and STIR sequences were routinely employed. Axial T1 and T2 weighted spin echo images were obtained at sites of identified pathology. Contrast enhanced sagittal and axial T1 weighted spin echo images were acquired when the unenhanced appearances did not correlate with the clinical findings or when the images suggested intradural or intramedullary disease. RESULTS: Malignant disease affecting the spinal cord or cauda equina was noted in 104/159 (65%) patients (extradural n= 78, intradural n= 20, intramedullary n= 7); one patient had evidence of both intradural and intramedullary deposits. Multiple levels of extradural cord/cauda equina compression were present in 18/78 patients (23%). The thoracic spine was the most frequently affected (74%). Bone elements were the major component of extradural compression in 11/78 patients (14%). Intradural metastases were multiple in 15/20 patients (75%). Four of the six solitary intramedullary metastases were situated in the conus medullaris. CONCLUSION: Magnetic resonance imaging of the entire spine is the investigation of choice in patients with known malignancy and suspected spinal canal disease. Contrast-enhanced images should be acquired when the unenhanced appearances do not correlate with the clinical findings or when they suggest intradural or intramedullary disease. Loughrey, G.J. (2000)

Magnetic resonance imaging in the management of suspected spinal canal disease in patients with known malignancy

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Loughrey, Gareth J.; Collins, Conor D.; Todd, Susan M.; Brown, Nicola M.; Johnson, Richard J

2000-11-01

AIM: The aim of this study was to examine the spectrum of spinal canal disease in patients with known malignancy using magnetic resonance imaging (MRI). MATERIALS AND METHODS: One hundred and fifty-five patients underwent a total of 159 spinal MRI examinations over a three-year period. Patients were examined using a 1.0T magnet and a phased array surface spine coil. Sagittal T1 weighted spin echo and STIR sequences were routinely employed. Axial T1 and T2 weighted spin echo images were obtained at sites of identified pathology. Contrast enhanced sagittal and axial T1 weighted spin echo images were acquired when the unenhanced appearances did not correlate with the clinical findings or when the images suggested intradural or intramedullary disease. RESULTS: Malignant disease affecting the spinal cord or cauda equina was noted in 104/159 (65%) patients (extradural n= 78, intradural n= 20, intramedullary n= 7); one patient had evidence of both intradural and intramedullary deposits. Multiple levels of extradural cord/cauda equina compression were present in 18/78 patients (23%). The thoracic spine was the most frequently affected (74%). Bone elements were the major component of extradural compression in 11/78 patients (14%). Intradural metastases were multiple in 15/20 patients (75%). Four of the six solitary intramedullary metastases were situated in the conus medullaris. CONCLUSION: Magnetic resonance imaging of the entire spine is the investigation of choice in patients with known malignancy and suspected spinal canal disease. Contrast-enhanced images should be acquired when the unenhanced appearances do not correlate with the clinical findings or when they suggest intradural or intramedullary disease. Loughrey, G.J. (2000)

Degenerative disc disease of the lumbar spine: a prospective comparison of fast T1-weighted fluid-attenuated inversion recovery and T1-weighted turbo spin echo MR imaging

International Nuclear Information System (INIS)

Erdem, L. Oktay; Erdem, C. Zuhal; Acikgoz, Bektas; Gundogdu, Sadi

2005-01-01

Objective: To compare fast T1-weighted fluid-attenuated inversion recovery (FLAIR) and T1-weighted turbo spin-echo (TSE) imaging of the degenerative disc disease of the lumbar spine. Materials and methods: Thirty-five consecutive patients (19 females, 16 males; mean age 41 years, range 31-67 years) with suspected degenerative disc disease of the lumbar spine were prospectively evaluated. Sagittal images of the lumbar spine were obtained using T1-weighted TSE and fast T1-weighted FLAIR sequences. Two radiologists compared these sequences both qualitatively and quantitatively. Results: On qualitative evaluation, CSF nulling, contrast at the disc-CSF interface, the disc-spinal cord (cauda equina) interface, and the spinal cord (cauda equina)-CSF interface of fast T1-weighted FLAIR images were significantly higher than those for T1-weighted TSE images (P < 0.001). On quantitative evaluation of the first 15 patients, signal-to-noise ratios of cerebrospinal fluid of fast T1-weighted FLAIR imaging were significantly lower than those for T1-weighted TSE images (P < 0.05). Contrast-to-noise ratios of spinal cord/CSF and normal bone marrow/disc for fast T1-weighted FLAIR images were significantly higher than those for T1-weighted TSE images (P < 0.05). Conclusion: Results in our study have shown that fast T1-weighted FLAIR imaging may be a valuable imaging modality in the armamentarium of lumbar spinal T1-weighted MR imaging, because the former technique has definite superior advantages such as CSF nulling, conspicuousness of the normal anatomic structures and changes in the lumbar spinal discogenic disease and image contrast and also almost equally acquisition times

Degenerative disc disease of the lumbar spine: a prospective comparison of fast T1-weighted fluid-attenuated inversion recovery and T1-weighted turbo spin echo MR imaging

Energy Technology Data Exchange (ETDEWEB)

Erdem, L. Oktay [Department of Radiology, Zonguldak Karaelmas University, School of Medicine, 6700 Kozlu, Zonguldak (Turkey)]. E-mail: sunarerdem@yahoo.com; Erdem, C. Zuhal [Department of Radiology, Zonguldak Karaelmas University, School of Medicine, 6700 Kozlu, Zonguldak (Turkey); Acikgoz, Bektas [Department of Neurosurgery, Zonguldak Karaelmas University, School of Medicine, Zonguldak (Turkey); Gundogdu, Sadi [Department of Radiology, Zonguldak Karaelmas University, School of Medicine, 6700 Kozlu, Zonguldak (Turkey)

2005-08-01

Objective: To compare fast T1-weighted fluid-attenuated inversion recovery (FLAIR) and T1-weighted turbo spin-echo (TSE) imaging of the degenerative disc disease of the lumbar spine. Materials and methods: Thirty-five consecutive patients (19 females, 16 males; mean age 41 years, range 31-67 years) with suspected degenerative disc disease of the lumbar spine were prospectively evaluated. Sagittal images of the lumbar spine were obtained using T1-weighted TSE and fast T1-weighted FLAIR sequences. Two radiologists compared these sequences both qualitatively and quantitatively. Results: On qualitative evaluation, CSF nulling, contrast at the disc-CSF interface, the disc-spinal cord (cauda equina) interface, and the spinal cord (cauda equina)-CSF interface of fast T1-weighted FLAIR images were significantly higher than those for T1-weighted TSE images (P < 0.001). On quantitative evaluation of the first 15 patients, signal-to-noise ratios of cerebrospinal fluid of fast T1-weighted FLAIR imaging were significantly lower than those for T1-weighted TSE images (P < 0.05). Contrast-to-noise ratios of spinal cord/CSF and normal bone marrow/disc for fast T1-weighted FLAIR images were significantly higher than those for T1-weighted TSE images (P < 0.05). Conclusion: Results in our study have shown that fast T1-weighted FLAIR imaging may be a valuable imaging modality in the armamentarium of lumbar spinal T1-weighted MR imaging, because the former technique has definite superior advantages such as CSF nulling, conspicuousness of the normal anatomic structures and changes in the lumbar spinal discogenic disease and image contrast and also almost equally acquisition times.

High in situ repeatability of behaviour indicates animal personality in the beadlet anemone Actinia equina (Cnidaria.

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Mark Briffa

Full Text Available 'Animal personality' means that individuals differ from one another in either single behaviours or suites of related behaviours in a way that is consistent over time. It is usually assumed that such consistent individual differences in behaviour are driven by variation in how individuals respond to information about their environment, rather than by differences in external factors such as variation in microhabitat. Since behavioural variation is ubiquitous in nature we might expect 'animal personality' to be present in diverse taxa, including animals with relatively simple nervous systems. We investigated in situ startle responses in a sea anemone, Actinia equina, to determine whether personalities might be present in this example of an animal with a simple nervous system. We found very high levels of repeatability among individuals that were re-identified in the same locations over a three week sampling period. In a subset of the data, where we used tide-pool temperature measurements to control for a key element of variation in microhabitat, these high levels of repeatability remained. Although a range of other consistent differences in micro-habitat features could have contributed to consistent differences between the behaviour of individuals, these data suggest the presence of animal personality in A. equina. Rather than being restricted to certain groups, personality may be a general feature of animals and may be particularly pronounced in species with simple nervous systems.

Vertebroplasty and delayed subdural cauda equina hematoma: Review of literature and case report.

Science.gov (United States)

Tropeano, Maria Pia; La Pira, Biagia; Pescatori, Lorenzo; Piccirilli, Manolo

2017-08-16

Vertebroplasy is considered an alternative and effective treatment of painful oncologic spine disease. Major complications are very rare, but with high morbidity and occur in less than 1% of patients who undergo vertebroplasty. Spinal subdural hematoma (SDH) is an extremely rare complication, usual developing within 12 h to 24 h after the procedure. We report the case of a tardive SDH in an oncologic patient who underwent VP for Myxoid Liposarcoma metastasis. Trying to explain the pathogenesis, we support the hypothesis that both venous congestion of the vertebral venous plexus of the vertebral body and venous congestion due to a traumatic injury can provoke SDH. To our best knowledge, only 4 cases of spinal subdural hematoma following a transpedicular vertebroplasty have been previously described in International literature and only one of them occurred two weeks after that surgical procedures. Percutaneous verteboplasty is a well-known treatment of pain oncologic spine disease, used to provide pain relief and improvement of quality life and is considered a simple surgical procedure, involving a low risk of complications, but related to high morbidity, such as SDH. Therefore it has to be performed by experienced and skilled surgeons, that should also recognize possible risk factors, making SDH more risky.

Prevalencia de anemia infecciosa equina en caballos de tracción en el municipio de Florencia (Caquetá

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Beatriz Elena Patiño-Quiroz

2016-11-01

Full Text Available En el estudio se evaluó la prevalecía de anemia infecciosa equina (AIE en los caballos de tracción en el municipio de Florencia, buscando relación por sexo, edad, condición corporal y distribución por comunas. Para ello se recolectaron 128 muestras de sangre de equinos (103 machos y 25 hembras que asistieron a 4 brigadas de salud animal realizadas por el semillero de investigación en equinos “SIEQUUS”, de la Universidad de la Amazonia, durante el periodo comprendido entre mayo de 2014 y diciembre de 2015. Las muestras fueron analizadas en laboratorio con la prueba de inmunodifusión en agar gel. Se realizó análisis estadístico descriptivo y una prueba Chí cuadrado (P10 fue del 14.29 %, y en los animales entre 5 y 10 años fue considerablemente mayor, el 33.33 %. Las condiciones ambientales y socioeconómicas facilitan la transmisión del virus entre los caballos del mismo gremio y con cualquier sistema de manejo y producción equina de la zona, lo que generaría pérdidas económicas y de semovientes de importancia para el sector equino.

A importância da odontologia na prática clínica equina

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Paulo, Diana Luísa de Oliveira Moreira

2010-01-01

Dissertação de Mestrado Integrado em Medicina Veterinária A odontologia equina é uma área da prática clínica que se encontra em ascensão. O domínio desta área tem-se revelado bastante importante quando se pretende estimar a idade de um cavalo através da sua dentição. No entanto, a sua máxima importância prende-se com a prevenção de alterações que eventualmente possam surgir na cavidade oral do equino e com a identificação e resolução destas aquando da sua presença. É também de grande...

Surgical management of giant lumbar disc herniation: analysis of 154 patients over a decade.

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Akhaddar, A; Belfquih, H; Salami, M; Boucetta, M

2014-10-01

We describe a decade of our experience in the surgical management of patients with giant lumbar intervertebral disc herniation (GILID). This is a case series of patients operated for a GILID between 2000 and 2009. Among 1334 patients eligible for the present study: 154 patients presented with GILID (study group) and 1180 patients without GILID (control group). Clinical symptoms and preoperative imaging results were obtained from medical records. Complications and long-term results were assessed. This retrospective study documents the characteristic features between patients with and without GILID. The difference in the incidence of female patients was statistically significant between the study group and the control group as was the mean duration of symptoms, hyperalgic radicular pain, bilaterality of symptoms, preoperative motor deficit, central location of lumbar disc herniation (LDH), contained herniation and recurrence of LDH. GILIDs are a distinct entity: they are distinctly uncommon compared with smaller herniations, patients were statistically more likely to be hyperalgic with bilateral radicular pain and often associated with neurological deficits. The majority of patients do not display a cauda equina syndrome (CES). Low lumbar disc sites are mostly affected and disc fragments are more likely to be central-uncontained. The recurrence rate is lower for GILIDs. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Severe back pain a cirrhotic patient : a diagnostic challenge

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Ioana Stănescu

2018-05-01

Full Text Available Spondylodiscitis is an infection of the intervertebral disc space, involves the vertebrae, causing vertebral osteomyelitis and spread to adjacent epidural space, causing dural, radicular or spinal cord compression. Appears mainly in adult and immunocompromised patients, mainly by haematogenous inoculation from systemic infections with bacteriemia. Patients with hepatic cirrhosis have frequent bacteriemias, produced by increased gut permeability, immune dysfunction and frequent need for invasive procedures. Despite high frequency of blood stream infections, discitis and vestebral osteomyelitis are rarely reported. We present the case of a 53 years old woman, diagnosed with class B Child Pugh cirrhosis, which presents with intense back pain and cauda equina syndrome, without clinical signs of infection. Diagnosis was confirmed by spinal MRI, but very soon after treatment onset, the patient suffered a septic shock with haemodynamic instability, which leads to patient’s death. This case illustrates how an unusual complication of cirrhosis – bacteriemia - could precipitate the unfavorable evolution of the patient by producing a remote septic complication. Persistent back pain in a cirrhotic patient should also raise the hypothesis of an infectious cause, in which early management is essential. Early diagnosis in essential for successful treatment, and good prognosis after long-term antibiotic treatment can be achieved in the majority of patients.

Cauda equina enhancing lesion in a HIV-positive patient. Case report and literature revision.

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Pasquale De Bonis

2011-10-01

Full Text Available We describe the case a spinal cord localization of neurological toxoplasmosis in a HIV-positive patient with Burkitt lymphoma, previously treated with chemotherapy and immunotherapy. This complication occurred while patient was in complete remission of lymphoma, with CD4+ T cell count of 270 /ml, undetectable HIV viremia, and despite the trimethoprim/ sulfamethoxazole prophylaxis. Indeed, we hypothesize that in our patient neurologic toxoplasmosis has been fostered more by previous immuno-chemotherapy than by HIV- related immunodeficiency. On the whole, this case suggests that parameters usually employed to predict the risk for opportunistic infections in HIV-positive people might not apply to patients with HIV-related lymphomas.

Cauda equina enhancing lesion in a HIV-positive patient. Case report and literature revision.

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Luigi Maria Larocca

2011-01-01

Full Text Available

We describe the case a spinal cord localization of neurological toxoplasmosis in a HIV-positive patient with Burkitt lymphoma, previously treated with chemotherapy and immunotherapy. This complication occurred while patient was in complete remission of lymphoma, with CD4+ T cell count of 270 /ml, undetectable HIV viremia, and despite the trimethoprim/ sulfamethoxazole prophylaxis. Indeed, we hypothesize that in our patient neurologic toxoplasmosis has been fostered more by previous immuno-chemotherapy than by HIV- related immunodeficiency. On the whole, this case suggests that parameters usually employed to predict the risk for opportunistic infections in HIV-positive people might not apply to patients with HIV-related lymphomas.

Chronic spinal subdural hematoma

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Hagen, T.; Lensch, T.

2008-01-01

Compared with spinal epidural hematomas, spinal subdural hematomas are rare; chronic forms are even more uncommon. These hematomas are associated not only with lumbar puncture and spinal trauma, but also with coagulopathies, vascular malformations and tumors. Compression of the spinal cord and the cauda equina means that the patients develop increasing back or radicular pain, followed by paraparesis and bladder and bowel paralysis, so that in most cases surgical decompression is carried out. On magnetic resonance imaging these hematomas present as thoracic or lumbar subdural masses, their signal intensity varying with the age of the hematoma. We report the clinical course and the findings revealed by imaging that led to the diagnosis in three cases of chronic spinal subdural hematoma. (orig.) [de

Persistent muscle fiber regeneration in long term denervation. Past, present, future

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Ugo Carraro

2015-03-01

Full Text Available Despite the ravages of long term denervation there is structural and ultrastructural evidence for survival of muscle fibers in mammals, with some fibers surviving at least ten months in rodents and 3-6 years in humans. Further, in rodents there is evidence that muscle fibers may regenerate even after repeated damage in the absence of the nerve, and that this potential is maintained for several months after denervation. While in animal models permanently denervated muscle sooner or later loses the ability to contract, the muscles may maintain their size and ability to function if electrically stimulated soon after denervation. Whether in mammals, humans included, this is a result of persistent de novo formation of muscle fibers is an open issue we would like to explore in this review. During the past decade, we have studied muscle biopsies from the quadriceps muscle of Spinal Cord Injury (SCI patients suffering with Conus and Cauda Equina syndrome, a condition that fully and irreversibly disconnects skeletal muscle fibers from their damaged innervating motor neurons. We have demonstrated that human denervated muscle fibers survive years of denervation and can be rescued from severe atrophy by home-based Functional Electrical Stimulation (h-bFES. Using immunohistochemistry with both non-stimulated and the h-bFES stimulated human muscle biopsies, we have observed the persistent presence of muscle fibers which are positive to labeling by an antibody which specifically recognizes the embryonic myosin heavy chain (MHCemb. Relative to the total number of fibers present, only a small percentage of these MHCemb positive fibers are detected, suggesting that they are regenerating muscle fibers and not pre-existing myofibers re-expressing embryonic isoforms. Although embryonic isoforms of acetylcholine receptors are known to be re-expressed and to spread from the end-plate to the sarcolemma of muscle fibers in early phases of muscle denervation, we suggest

Anticorpos neutralizantes para a amostra leste do virus de encefalomielite equina em equídeos no Brasil

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Edwin H. Lennette

1943-01-01

Full Text Available Resume-se a literatura sobre encefalomielite equina no Brasil. Dos vários agentes infecciosos isolados de epizootias dessa doença somente um foi identificado com certeza e era o virus da raiva (Cunha. Exames feitos neste Laboratório com soros de equídeos que haviam passado por uma epizootia de encefalomielite no município de Peçanha, Minas Gerais, durante o fim de 1940 e princípio de 1941 revelaram que a maioria possuia anticorpos neutralizantes para o virus de encefalomielite equina de leste. Estes achados indicam que esse virus ocorre tambem no Brasil não sendo, portanto, restrito à América do Norte.The literature on equine encephalomyelitis in Brazil is very briefly sumarized. It is shown that of the several infectious agents isolated from epizootics of this disease, only one has been identified with certainty and has been found to be rabies virus (Cunha. During late 1940 and early 1941 an epizootic of encephalomyelitis occurred in the Municipio (County of Peçanha, which is located in the east central part of the State of Minas Gerais. Sera were collected from eighteen horses and mules which had passed through the epizootic, and tested for neutralizing antibodies to the St. Louis encephalitis virus and to the eastern and western strains of equine encephlomyelitis virus. None of the sera contained demonstrable antibodies to the St. Louis or western equine encephalomyelitis viruses; fourteen of the eighteen sera, however, possessed antibodies to the eastern strain. Only one of the twenty control sera, obtained from adjacent areas, was found to contain antibodies for the eastern strain, and this one also came from the Municipio of Peçanha. It is concluded that the eastern strain of equine encephlomyelitis virus occurs also in Brazil and is not confined to North America.

Radiation-induced nerve root degeneration and hypertrophic neuropathy in the lumbosacral spinal cord of rats: The relation with changes in aging rats

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Kogel, A.J. van der

1977-01-01

Three-month-old WAG Rij rats were irradiated with 300 kV X-rays on the lumbar region of the spinal column with doses below the level for causing paralysis due to radiation radiculomyelopathy. 8-9 months after irradiation. degeneration of predominantly the ventral nerve roots of the cauda equina was observed. Three stages were distinguishable: I) Demyelination and proliferation of Schwann cells: II) Local swelling of ventral nerve roots, with concentric layers of Schwann cells resembling hypertrophic neuropathy: III) Malignant Schwannoma, invading roots and spinal cord. It is concluded that the degenerative and proliferative lesions represent a continuous series of stages of slowly progressive lesions. The ventral nerve root degeneration (Ist stage) is similar to that observed in aging, unirradiated rats, normally developing at the age of 18-20 months. (orig.) [de

Intra-operative monitoring of the common peroneal nerve during total knee replacement.

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Unwin, A J; Thomas, M

1994-01-01

We present a method allowing intra-operative monitoring of the common peroneal nerve during total knee arthroplasty using a magnetic stimulator. Previous reports have shown no pre-operative method successful in selecting those patients prone to develop a post-operative palsy. The device, placed beneath the lumbar spine, stimulates the cauda equina; common peroneal nerve function is assessed via the response in extensor digitorum brevis. There is a loss of signal from the nerve with the use of a tourniquet 25 min following its application. The protocol therefore requires that a tourniquet is used at least only for fixation of the prosthetic components. The method is quick, safe, non-invasive and reproducible, and is of use both in at-risk patients and in research work. Images Figure 6. PMID:7837197

Magnetic resonance imaging of canine degenerative lumbar spine diseases

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Karkkainen, M.; Punto, L.U.; Tulamo, R.M.

1993-01-01

Degenerative lumbar spine diseases, i.e., sacrolumbar stenosis, intervertebral disk degeneration and protrusion and spondylosis deformans of the canine lumbar spine were studied in eleven canine patients and three healthy controls using radiography and 0.02 T and 0.04 T low field magnetic resonance imaging. The T1 and T2 weighted images were obtained in sagittal and transverse planes. The loss of hydration of nucleus pulposus, taken as a sign of degeneration in the intervertebral disks, could be evaluated in both T1 and T2 weighted images. As a noninvasive method magnetic resonance imaging gave more exact information about the condition of intervertebral disks than did radiography. Sacrolumbar stenosis and compression of the spinal cord or cauda equina and surrounding tissue could be evaluated without contrast medium

Percutaneous lumbar discectomy

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Xiao Chengjiang; Su Huanbin; Xu Sui; He Xiaofeng; Li Yanhao

2004-01-01

Objective: To probe the therapeutic effects, indications and safety of the percutaneous lumbar discectomy (PLDP). Methods: To ameliorate percutaneous punctured route based on classic PLD and modified jaw structure of pulpiform nacleus forceps, with statistic analysis of the therapeutic results of 352 cases of patient undergone PLDP and follow up ranging from 6 to 38 months retrospectively. Results: The effective ratios were excellent in 45.5%, good for 45.4% and bad in 9.1%. 44 of 352 cases with pulps prolapse were cured. No intervertebral inflammation and paradisc hematoma took place. One case complicated with cauda equina injury and 4 cases with appliances broken inside the disc. Conclusions: PLDP is effective and safe, not only adaptive to the contained disc herniation, but also for noncontained herniation. (authors)

Ameliorative percutaneous lumbar discectomy

International Nuclear Information System (INIS)

Xiao Chengjiang; Su Huanbin; He Xiaofeng; Li Yanhao

2005-01-01

Objective: To ameliorate the percutaneous lumbar discectomy (APLD) for improving the effectiveness and amplifying the indicative range of PLD. Methods: To ameliorate percutaneous punctured route based on classic PLD and discectomy of extracting pulp out of the herniated disc with special pulpforceps. The statistical analysis of the therapeutic results on 750 disc protrusions of 655 cases undergone APLD following up from 6 to 54 months retrospectively. Results: The effective ratios were excellent in 40.2%, good for 46.6% and bad of 13.3%. No occurrance of intervertebral inflammation and paradiscal hematoma, there were only 1 case complicated with injuried cauda equina, and 4 cases with broken appliance within disc. Conclusions: APLD is effective and safe, not only indicative for inclusion disc herniation, but also for noninclusion herniation. (authors)

Prolonged Response and Restoration of Functional Independence with Bevacizumab plus Vinorelbine as Third-Line Treatment for Breast Cancer-Related Leptomeningeal Metastases

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Emilie Le Rhun

2015-02-01

Full Text Available Background: Survival of patients with leptomeningeal metastases (LM and impaired functional status is limited to several months, and rarely does neurological function improve with treatment. Case Report: A 34-year-old female with hormone-negative and HER2-positive metastatic breast cancer was diagnosed with bulky radiographic LM 45 months after initial diagnosis. She was treated with intra-CSF trastuzumab followed by intra-CSF liposomal cytarabine; however, the cancer progressed 8 months after the diagnosis of LM. At the time of the third LM progression, the patient presented with a cauda equina syndrome and cerebellar impairment resulting in an inability to walk. She was treated with CNS-directed radiotherapy (lumbosacral and cerebellar and bevacizumab plus vinorelbine. Rapid functional improvement occurred, and the patient regained the ability to walk and independently manage her daily activities. Twelve months later, she presented with rapid progression of the LM resulting in death within several weeks. Conclusion: In radiographically defined bulky LM, the combination of systemic therapy and CNS-directed radiotherapy likely is more active than intra-CSF therapy only. In lieu of the rapid and significant improvement in neurological function combined with the prolonged response, bevacizumab alone or in combination with chemotherapy and CNS-directed radiotherapy may be considered in select patients with radiographically bulky breast cancer-related LM.

Acreditação e credenciamento de laboratórios de ensaio para diagnósticos de anemia infecciosa equina

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Bordin, Ricardo

2015-01-01

Este trabalho apresenta uma contribuição ao processo de acreditação e credenciamento aos laboratórios de ensaio no escopo da Anemia Infecciosa Equina (AIE). Consiste em uma proposta de priorização de requisitos para a acreditação, credenciamento e biossegurança de laboratórios de ensaio, desenvolvida por sete etapas metodológicas: 1) descrição dos elementos que caracterizam um laboratório de AIE e utilização da experiência do laboratório de estudo como facilitador do processo de acreditação; ...

Tumors of the spinal cord and canal

International Nuclear Information System (INIS)

Karlsson, U.L.; Brady, L.W.

1987-01-01

Most spine (primary and secondary) neoplasms should receive curative or palliative radiation therapy. Data from the literature support its use as a beneficial treatment modality. Meningiomas and neurofibromas should be resected and irradiated postoperatively if removed subtotally or if the histopathology is malignant. The prognosis for patients with these tumors is generally good. Intramedullary tumors should be biopsied and irradiated when neoplastic histology has been established. The prognosis for these patients is unsatisfactory for high-grade astrocytomas but is more reasonable for ependymomas and vascular malformations. A favorable exception may be the myxopapillary ependymoma in the lumbosacral region. It should be maximally resected with sparing of cauda equina function but then irradiated postoperatively. The primary intent should be to eradicate the tumor. Radiation therapy is the main treatment modality, with steroid medication, in cases of cord compression

Intradural lipoma

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Schubert, F.

1996-01-01

An intradural lipoma consists of a localized collection of fat within the intradural space of the spinal canal. Microscopically, spinal lipomas consist of a homogeneous mass of adult adipose tissue (rarely, brown fat or mixed yellow and brown fat) that exhibits no evidence of malignancy. The fat is divided into lobules by thick connective-tissue strands which may be associated with smooth muscle fibres. Striated muscle fibres, angiomatous elements, calcification and ossification are less common. A case of intradural lipoma is presented and it is shown how both computer tomography and magnetic resonance imaging (MRI) assisted in an accurate diagnosis of this pathology. MR is the imaging modality of choice as it allows to fully evaluate the extent of the lipoma and its relationship to the neural placode, spinal cord and roots of the cord and/or cauda equina. 4 refs., 5 figs

Strontium-89 therapy and subarachnoid phenol block successfully eliminated intractable pain of metastasis in the patient with advanced urachal carcinoma

International Nuclear Information System (INIS)

Arakawa, Yasuhiro; Inoue, Daisuke; Sakuyama, Toshikazu; Nagasaki, Eijiro; Aiba, Keisuke

2011-01-01

We report a case of a 39-year-old man with intractable multifocal pain caused by metastatic urachal carcinoma to the bone. The patient underwent a partial cystectomy in May 2008, and lung metastasis occurred 9 months after the surgery. He then received salvage chemotherapy, but developed metastasis to the liver, brain, and bone. He was hospitalized due to a shoulder pain, a lower back pain, buttocks pain, numbness in both legs, and drop foot in right leg. MRI revealed metastases to the spine, and lumbar spinal canal stenosis with cauda equina compression. Even a combination of fentanyl-patch, oral acetaminophen, gabapentin and paroxetine was not effective for pain control. Strontium-89 therapy and subarachnoid phenol block successfully eliminated intractable pain. The patient could be discharged from hospital and received a palliative care at home for a short period of time. (author)

Combined Therapies of Modified Taiyi Miraculous Moxa Roll and Cupping for Patients with Lumbar Intervertebral Disc Herniation.

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Cai, Chunyue; Gong, Yuefeng; Dong, Dayong; Xue, Jinbiao; Zheng, Xiaoting; Zhong, Zhangfeng; Shao, Jialong; Mi, Daguo

2018-01-01

Lumbar intervertebral disc herniation is a kind of syndrome caused by stimulation or pressure of nerve root and cauda equina due to intervertebral disc disorder, fibrous ring rupture, and pulpiform nucleus protrusion. Application of traditional Chinese medicine (TCM) including acupuncture therapy and cupping therapy is unique and effective treatment for lumbar intervertebral disc herniation in China. Hence, we try to investigate the combined clinical efficacy of modified Taiyi miraculous moxa roll and cupping therapy on patients with lumbar intervertebral disc herniation. Seventy patients were randomly assigned into combined treatment group ( n = 35) and control group ( n = 35). The treatment group received combined therapy of modified Taiyi miraculous moxa roll and cupping therapy, while control group received acupuncture therapy alone. Diagnostic criteria of TCM syndrome, Japanese Orthopedic Association (JOA) score, and simplified McGill pain questionnaire (MPQ) were used to evaluate the therapy. 11 and 13 out of 35 subjects in the combined treatment group had improvement > 75% and between 50% and 75%, respectively. The corresponding number was 2 and 22 of 35 subjects in the acupuncture group. There was significant difference in the clinical efficacy between the treatment group and control group ( P = 0.036). The scores of JOA and MPQ detected in the patients of the two groups ( P cupping therapy or acupuncture. The combined or alone therapies can effectively improve the treatment efficacy in the patients with lumbar intervertebral disc herniation, while the combined therapies show more comparative effectiveness. Furthermore, the combined therapies are potentially safe and cost-effective and also benefit the improvement of short-term pain. Therefore, the combined therapies of the two ancient TCM deserve further clinical applications.

Ligamentum flavum hematoma: a case report and literature review Hematoma del ligamento amarillo: caso clínico y revisión de la literatura Hematoma de ligamento amarelo: relato de caso e revisão da literatura

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Ericson Sfreddo

2012-01-01

Full Text Available The aim is to present a rare case of ligamentum flavum hematoma in the lumbar region, discuss its physiopathology and treatment and review the literature. A woman aged 68 presented with neurogenic claudication due to degenerative lumbar spondylolisthesis that evolved into a sudden worsening with cauda equina syndrome. The magnetic resonance imagining (MRI showed signs of degeneration of the lumbar spine, with a narrow spinal canal from L2 to S1, anterolisthesis L4 L5 and an expansive lesion hyperintense on T1-weighted and hypointense on T2-weighted images considered compatible with hematoma in the topography of the yellow ligament in L1-L2. The patient underwent laminectomy and lumbar fixation. Her evolution was good in the postoperative period and at 18 months of follow-up hse walked alone, despite the pain that is controlled with simple medications. Even though rare, it seems that ligamentum flavum hematoma has a relationship with the degeneration and rupture of small vessels associated with micro trauma to the spine. Its physiopathology is not well defined and treatment is similar to other spine compression processes.El objetivo es presentar un caso raro de un hematoma ligamento flavum en la región lumbar, discutir su fisiopatología y el tratamiento y revisión de la literatura. Una mujer de 68 años presentó claudicación neurogénica debido a la espondilolistesis lumbar degenerativa y que se convirtió en un repentino empeoramiento con el síndrome de cauda equina. Una imagen de resonancia magnética (RM mostró signos de degeneración de la columna lumbar, con canal espinal estrecho de L2 a S1, anterolistesis L4 L5 y en la L1-L2, un proceso expansivo redondeado e hiperintenso en T1 y hipointenso en los bordes en T2, compatible con hematoma en la topografía del ligamento amarillo. La paciente fue sometida a laminectomía y fijación lumbar. Su evolución fue buena en el postoperatorio y, a los 18 meses de seguimiento caminaba sola, a

Comparison of T1-weighted fast spin-echo and T1-weighted fluid-attenuated inversion recovery images of the lumbar spine at 3.0 Tesla

International Nuclear Information System (INIS)

Lavdas, Eleftherios; Vlychou, Marianna; Arikidis, Nikos; Kapsalaki, Eftychia; Roka, Violetta; Fezoulidis, Ioannis V.

2010-01-01

Background: T1-weighted fluid-attenuated inversion recovery (FLAIR) sequence has been reported to provide improved contrast between lesions and normal anatomical structures compared to T1-weighted fast spin-echo (FSE) imaging at 1.5T regarding imaging of the lumbar spine. Purpose: To compare T1-weighted FSE and fast T1-weighted FLAIR imaging in normal anatomic structures and degenerative and metastatic lesions of the lumbar spine at 3.0T. Material and Methods: Thirty-two consecutive patients (19 females, 13 males; mean age 44 years, range 30-67 years) with lesions of the lumbar spine were prospectively evaluated. Sagittal images of the lumbar spine were obtained using T1-weighted FSE and fast T1-weighted FLAIR sequences. Both qualitative and quantitative analyses measuring the signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), and relative contrast (ReCon) between degenerative and metastatic lesions and normal anatomic structures were conducted, comparing these sequences. Results: On quantitative evaluation, SNRs of cerebrospinal fluid (CSF), nerve root, and fat around the root of fast T1-weighted FLAIR imaging were significantly lower than those of T1-weighted FSE images (P<0.001). CNRs of normal spinal cord/CSF and disc herniation/ CSF for fast T1-weighted FLAIR images were significantly higher than those for T1-weighted FSE images (P<0.001). ReCon of normal spinal cord/CSF, disc herniation/CSF, and vertebral lesions/CSF for fast T1-weighted FLAIR images were significantly higher than those for T1-weighted FSE images (P<0.001). On qualitative evaluation, it was found that CSF nulling and contrast at the spinal cord (cauda equina)/CSF interface for T1-weighted FLAIR images were significantly superior compared to those for T1-weighted FSE images (P<0.001), and the disc/spinal cord (cauda equina) interface was better for T1-weighted FLAIR images (P<0.05). Conclusion: The T1-weighted FLAIR sequence may be considered as the preferred lumbar spine imaging

The effects of subarachnoid administration of preservative-free S(+)-ketamine on spinal cord and meninges in dogs.

Science.gov (United States)

Rojas, Alfredo Cury; Alves, Juliana Gaiotto; Moreira E Lima, Rodrigo; Esther Alencar Marques, Mariângela; Moreira de Barros, Guilherme Antônio; Fukushima, Fernanda Bono; Modolo, Norma Sueli Pinheiro; Ganem, Eliana Marisa

2012-02-01

The N-methyl-d-aspartate receptor antagonist ketamine and its active enantiomer, S(+)-ketamine, have been injected in the epidural and subarachnoid spaces to treat acute postoperative pain and relieve neuropathic pain syndrome. In this study we evaluated the effects of a single dose of preservative-free S(+)-ketamine, in doses usually used in clinical practice, in the spinal cord and meninges of dogs. Under anesthesia (IV etomidate (2 mg/kg) and fentanyl (0.005 mg/kg), 16 dogs (6 to 15 kg) were randomized to receive a lumbar intrathecal injection (L5/6) of saline solution of 0.9% (control group) or S(+)-ketamine 1 mg/kg(-1) (ketamine group). All doses were administered in a volume of 1 mL over a 10-second interval. Accordingly, injection solution ranged from 0.6% to 1.5%. After 21 days of clinical observation, the animals were killed; spinal cord, cauda equina root, and meninges were removed for histological examination with light microscopy. Tissues were examined for demyelination (Masson trichrome), neuronal death (hematoxylin and eosin) and astrocyte activation (glial fibrillary acidic protein). No clinical or histological alterations of spinal tissue or meninges were found in animals from either control or ketamine groups. A single intrathecal injection of preservative-free S(+)-ketamine, at 1 mg/kg(-1) dosage, over a concentration range of 6 to 15 mg/mL injected in the subarachnoid space in a single puncture, did not produce histological alterations in this experimental model.

Isolated neurosarcoidosis - MR findings and pathologic correlation. A case report

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Bode, M.K.; Tikkakoski, T.; Tuisku, S.; Kronqvist, E. [Keski-Pohjanmaa Central Hospital, Kokkola (Finland); Tuominen, H. [Oulu Univ. Hospital (Finland). Dept. of Pathology

2001-11-01

Neurosarcoidosis is a diagnostic challenge, especially if systemic symptoms are absent. We present a 49-year-old woman with isolated neurosarcoidosis. The main symptom was loss of vision in the left eye. Brain MR imaging showed 6 high-signal white matter lesions frontotemporally on proton density and T2-weighted turbo spin-echo images. Coronal fat-saturated turbo FLAIR images of the orbits showed a swollen left optic nerve with increased signal intensity, which finding has not been previously published in sarcoid optic neuropathy. A control MR examination showed meningeal enhancement of the left optic nerve and leptomeningeal enhancing lesions around the brain stem. Spinal MR revealed leptomeningeal enhancement throughout the spinal cord and asymptomatic enhancing cauda equina lesions, mimicking subarachnoid tumour seeding, and an enhancing nerve root mass at Th12/L1. Biopsy of the latter lesion revealed non-caseating granulomas consistent with sarcoidosis.

Isolated neurosarcoidosis - MR findings and pathologic correlation. A case report

International Nuclear Information System (INIS)

Bode, M.K.; Tikkakoski, T.; Tuisku, S.; Kronqvist, E.; Tuominen, H.

2001-01-01

Neurosarcoidosis is a diagnostic challenge, especially if systemic symptoms are absent. We present a 49-year-old woman with isolated neurosarcoidosis. The main symptom was loss of vision in the left eye. Brain MR imaging showed 6 high-signal white matter lesions frontotemporally on proton density and T2-weighted turbo spin-echo images. Coronal fat-saturated turbo FLAIR images of the orbits showed a swollen left optic nerve with increased signal intensity, which finding has not been previously published in sarcoid optic neuropathy. A control MR examination showed meningeal enhancement of the left optic nerve and leptomeningeal enhancing lesions around the brain stem. Spinal MR revealed leptomeningeal enhancement throughout the spinal cord and asymptomatic enhancing cauda equina lesions, mimicking subarachnoid tumour seeding, and an enhancing nerve root mass at Th12/L1. Biopsy of the latter lesion revealed non-caseating granulomas consistent with sarcoidosis

Urinary incontinence a first presentation of central pontine myelinolysis: a case report.

Science.gov (United States)

Syed, Asmah Hassan; Shak, Joanna; Alsawaf, Ali

2015-09-01

An 84-year-old lady was treated for hyperosmolar hyperglycaemia with IV insulin, fluids and catheterisation for fluid balance monitoring. Trial without catheter failed as the patient complained of new-onset urinary incontinence and lack of awareness of bladder filling. In light of her breast cancer history, we excluded cauda equina. Ultrasound KUB showed an enlarged bladder. Whole-body MRI revealed a lesion in the pons which was highly suggestive of central pontine myelinolysis (CPM). Her electrolytes were normal throughout her admission; thus, the rapid fluctuation in osmolality, secondary to her hyperglycaemic state, was the likely cause of CPM. CPM has been reported secondary to hyperglycaemia; however, this is the first reported case of CPM presenting as urinary incontinence and loss of bladder sensation. © The Author 2015. Published by Oxford University Press on behalf of the British Geriatrics Society. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Rapidly Progressive Quadriplegia and Encephalopathy.

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Wynn, DonRaphael; McCorquodale, Donald; Peters, Angela; Juster-Switlyk, Kelsey; Smith, Gordon; Ansari, Safdar

2016-11-01

A woman aged 77 years was transferred to our neurocritical care unit for evaluation and treatment of rapidly progressive motor weakness and encephalopathy. Examination revealed an ability to follow simple commands only and abnormal movements, including myoclonus, tongue and orofacial dyskinesias, and opsoclonus. Imaging study findings were initially unremarkable, but when repeated, they demonstrated enhancement of the cauda equina nerve roots, trigeminal nerve, and pachymeninges. Cerebrospinal fluid examination revealed mildly elevated white blood cell count and protein levels. Serial electrodiagnostic testing demonstrated a rapidly progressive diffuse sensory motor axonopathy, and electroencephalogram findings progressed from generalized slowing to bilateral periodic lateralized epileptiform discharges. Critical details of her recent history prompted a diagnostic biopsy. Over time, the patient became completely unresponsive with no further abnormal movements and ultimately died. The differential diagnosis, pathological findings, and diagnosis are discussed with a brief review of a well-known yet rare diagnosis.

Degenerative lumbosacral stenosis in dogs.

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Meij, Björn P; Bergknut, Niklas

2010-09-01

Degenerative lumbosacral stenosis (DLSS) is the most common disorder of the caudal lumbar spine in dogs. This article reviews the management of this disorder and highlights the most important new findings of the last decade. Dogs with DLSS are typically neuro-orthopedic patients and can be presented with varying clinical signs, of which the most consistent is lumbosacral pain. Due to the availability of advanced imaging techniques such as computed tomography and magnetic resonance imaging that allow visualization of intervertebral disc degeneration, cauda equina compression, and nerve root entrapment, tailor-made treatments can be adopted for the individual patient. Current therapies include conservative treatment, decompressive surgery, and fixation-fusion of the L7-S1 junction. New insight into the biomechanics and pathobiology of DLSS and developments in minimally invasive surgical techniques will influence treatment options in the near future. Copyright 2010 Elsevier Inc. All rights reserved.

Fezes equina como fonte de inóculo na obtenção de indicadores indigestíveis para estimar a digestibilidade em equinos

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Oliveira,Kátia de; Bittar,Carla Maris Machado; Costa,Ciniro; Oliveira,Vinicius Antônio Baptista; Sá,Janaina Carolina de

2012-01-01

Foram utilizados quatro cavalos castrados, por meio de delineamento em blocos casualizados. Objetivou-se viabilizar a obtenção in vitro das fibras indigestíveis, FDNi e FDAi, mediante a utilização, como inóculos, de líquido ruminal (LR) e fezes equina (FE), para estimar o coeficiente de digestibilidade nutrientes (CDN) de cavalos. Os tratamentos foram constituídos pelo método direto com a coleta total de fezes (CT) e indireto pelo uso das FDNi e FDAi obtidas por meio dos inóculos, LR e FE. De...

Combined Therapies of Modified Taiyi Miraculous Moxa Roll and Cupping for Patients with Lumbar Intervertebral Disc Herniation

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Chunyue Cai

2018-01-01

Full Text Available Lumbar intervertebral disc herniation is a kind of syndrome caused by stimulation or pressure of nerve root and cauda equina due to intervertebral disc disorder, fibrous ring rupture, and pulpiform nucleus protrusion. Application of traditional Chinese medicine (TCM including acupuncture therapy and cupping therapy is unique and effective treatment for lumbar intervertebral disc herniation in China. Hence, we try to investigate the combined clinical efficacy of modified Taiyi miraculous moxa roll and cupping therapy on patients with lumbar intervertebral disc herniation. Seventy patients were randomly assigned into combined treatment group (n=35 and control group (n=35. The treatment group received combined therapy of modified Taiyi miraculous moxa roll and cupping therapy, while control group received acupuncture therapy alone. Diagnostic criteria of TCM syndrome, Japanese Orthopedic Association (JOA score, and simplified McGill pain questionnaire (MPQ were used to evaluate the therapy. 11 and 13 out of 35 subjects in the combined treatment group had improvement > 75% and between 50% and 75%, respectively. The corresponding number was 2 and 22 of 35 subjects in the acupuncture group. There was significant difference in the clinical efficacy between the treatment group and control group (P=0.036. The scores of JOA and MPQ detected in the patients of the two groups (P<0.05 also showed statistically significant differences. Moreover, no serious adverse events occurred in the patients, who received cupping therapy or acupuncture. The combined or alone therapies can effectively improve the treatment efficacy in the patients with lumbar intervertebral disc herniation, while the combined therapies show more comparative effectiveness. Furthermore, the combined therapies are potentially safe and cost-effective and also benefit the improvement of short-term pain. Therefore, the combined therapies of the two ancient TCM deserve further clinical

Degenerative lumbosacral stenosis in working dogs: current concepts and review.

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Worth, A J; Thompson, D J; Hartman, A C

2009-12-01

Degenerative lumbosacral stenosis (DLSS) is characterised by intervertebral disc degeneration, with secondary bony and soft-tissue changes leading to compression of the cauda equina. Large-breed, active and working dogs are the most commonly affected by DLSS. Specific manipulative tests allow the clinician to form a high suspicion of DLSS, and initiate investigation. Changes seen using conventional radiography are unreliable, and although contrast radiography represents an improvement, advanced imaging is accepted as the diagnostic method of choice. Treatment involves decompression and/or stabilisation procedures in working dogs, although conservative management may be acceptable in pet dogs with mild signs. Prognosis for return to work is only fair, and there is a high rate of recurrence following conventional surgery. Stabilisation procedures are associated with the potential for failure of the implant, and their use has not gained universal acceptance. A new surgical procedure, dorsolateral foramenotomy, offers a potential advance in the management of DLSS. everal aspects of the pathogenesis, heritability and optimal treatment approach remain uncertain.

Complete genome amplification of Equine influenza virus subtype 2 Amplificación del genoma completo del subtipo 2 del virus de la influenza equina

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G. H. Sguazza

2009-12-01

Full Text Available This work reports a method for rapid amplification of the complete genome of equine influenza virus subtype 2 (H3N8. A ThermoScriptTM reverse transcriptase instead of the avian myeloblastosis virus reverse transcriptase or Moloney murine leukemia virus reverse transcriptase was used. This enzyme has demonstrated higher thermal stability and is described as suitable to make long cDNA with a complex secondary structure. The product obtained by this method can be cloned, used in later sequencing reactions or nested-PCR with the purpose of achieving a rapid diagnosis and characterization of the equine influenza virus type A. This detection assay might be a valuable tool for diagnosis and screening of field samples as well as for conducting molecular studies.En este trabajo comunicamos un método rápido que permite la amplificación del genoma completo del subtipo 2 (H3N8 del virus de la influenza equina. Se utilizó la enzima transcriptasa reversa ThermoScriptTM en lugar de la transcriptasa reversa del virus de la mieloblastosis aviar o la transcriptasa reversa del virus de la leucemia murina de Moloney. Esta enzima ha demostrado tener una alta estabilidad térmica y la capacidad de hacer largas copias de ADN con una estructura secundaria compleja. El producto obtenido por esta técnica puede ser clonado y utilizado posteriormente en reacciones de secuenciación o de PCR anidada con la finalidad de lograr un diagnóstico rápido y la caracterización del virus de la influenza equina tipo A. Este ensayo de detección puede llegar a ser una valiosa herramienta para el diagnóstico y el análisis de muestras de campo, así como para la realización de estudios moleculares.

Evaluation of the rostral projection of the sacral lamina as a component of degenerative lumbosacral stenosis in German shepherd dogs.

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Saunders, Harvey; Worth, Andrew J; Bridges, Janis P; Hartman, Angela

2018-05-20

To determine the association between a greater rostral projection of the sacral lamina and clinical signs of cauda equina syndrome (CES) in German shepherd dogs (GSD) with presumptive degenerative lumbosacral disease (DLSS). Retrospective cohort study. One hundred forty-three GSD (125 police dogs and 18 pet dogs) presenting for either CES or prebreeding evaluation. Fifty-five were classified as affected by CES and diagnosed with DLSS, and 88 were classified as unaffected on the basis of clinical and imaging findings. The position of the rostral edge of the sacral lamina was measured from radiographs and/or computed tomography (CT) scans. This position was compared between affected and unaffected dogs. In dogs that underwent both radiography and CT scanning, the agreement between sacral lamina localization using each imaging modality was determined. Owners/handlers were contacted to determine whether dogs subsequently developed clinical signs compatible with CES at a mean of 29 months (unaffected). The sacral lamina did not extend as far rostrally in affected dogs, compared to unaffected dogs (P = .04). Among the 88 dogs unaffected by CES at initial evaluation, 2 developed clinical signs consistent with CES at follow-up. Rostral projection of the sacral lamina, previously proposed as a potential risk factor in dogs with CES due to lumbosacral degeneration, was not associated with a diagnosis of DLSS in this study; the opposite was true. Rostral projection of the sacral lamina may not be a predisposing factor in the development of CES due to DLSS in GSD. © 2018 The American College of Veterinary Surgeons.

Long-Term Cost-Effectiveness of Transanal Irrigation in Patients with Neurogenic Bowel Dysfunction.

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Anton Emmanuel

Full Text Available People suffering from neurogenic bowel dysfunction (NBD and an ineffective bowel regimen often suffer from fecal incontinence (FI and related symptoms, which have a huge impact on their quality of life. In these situations, transanal irrigation (TAI has been shown to reduce these symptoms and improve quality of life.To investigate the long-term cost-effectiveness of initiating TAI in patients with NBD who have failed standard bowel care (SBC.A deterministic Markov decision model was developed to project the lifetime health economic outcomes, including quality-adjusted life years (QALYs, episodes of FI, urinary tract infections (UTIs, and stoma surgery when initiating TAI relative to continuing SBC. A data set consisting of 227 patients with NBD due to spinal cord injury (SCI, multiple sclerosis, spina bifida and cauda equina syndrome was used in the analysis. In the model a 30-year old individual with SCI was used as a base-case. A probabilistic sensitivity analysis was applied to evaluate the robustness of the model.The model predicts that a 30-year old SCI patient with a life expectancy of 37 years initiating TAI will experience a 36% reduction in FI episodes, a 29% reduction in UTIs, a 35% reduction in likelihood of stoma surgery and a 0.4 improvement in QALYs, compared with patients continuing SBC. A lifetime cost-saving of £21,768 per patient was estimated for TAI versus continuing SBC alone.TAI is a cost-saving treatment strategy reducing risk of stoma surgery, UTIs, episodes of FI and improving QALYs for NBD patients who have failed SBC.

Primary Ewing’s Sarcoma of the Spine in a Two-Year-Old Boy

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Ali J. Electricwala

2016-01-01

Full Text Available Ewing’s Sarcoma (ES is a highly malignant bone tumour. It may involve any part of the skeleton but the most frequent parts are the ilium and diaphysis of femur and tibia (Alfeeli et al., 2005; Zhu et al., 2012. Primary ES of the spine is extremely rare (Yan et al., 2011. It accounts for only 3.5 to 14.9 percent of all primary bone sarcomas. The age of presentation ranges from 12 to 24 years (median 21 years (Ferguson, 1999; Sharafuddin et al., 1992; Klimo Jr. et al., 2009. We report an unusual case of primary ES of the spine in a two-year-old boy, who presented to us with paraparesis and features of cauda equina syndrome. MRI scan showed a tumour mass arising from the pedicle of L4 vertebra invading the spinal canal. Tc-99 bone scan showed increased tracer uptake in L4 vertebra and normal tracer uptake elsewhere in the skeleton. After reaching the diagnosis of a space occupying lesion invading the lumber spinal canal, we performed a decompressive laminectomy and a biopsy was sent which confirmed the diagnosis of ES. Immunohistochemistry showed tumour cells staining positive for CD-99 (specific stain for ES. Gene testing showed an EWS-FLI 1 chimera. Surgery was followed by good improvement in motor signs. The child was then referred to a specialized oncotherapy centre for further treatment, radiation, and chemotherapy. To the best of our knowledge, we are the first to report primary ES of the spine at the age of two years.

Síndrome de la cola de caballo secundario a hernia discal traumática Horse-tail syndrome secondary to traumatic disc herniation

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Isael Olazábal Armas

2012-09-01

Full Text Available La cola de caballo representa la continuación caudal de la médula espinal. Esta porción del sistema nervioso es asiento de numerosas patologías. Se presenta un caso clínico que debutó de forma aguda con un síndrome de la cola de caballo, secundario a una hernia discal lumbar traumática. Se trata de un paciente masculino de 45 años de edad, que acude al servicio de urgencias, porque refiere síntomas que inician siete días antes de forma aguda y progresiva, luego de haber caído de una altura de tres metros. Al interrogarlo existía debilidad muscular del miembro inferior izquierdo y dificultad para caminar. El examen físico corroboró la disminución de la fuerza muscular y arreflexia Aquileo-plantar. Se realizó estudio de resonancia magnética, que demostró una hernia discal extruída en el interespacio L5-S1. El paciente se llevó al salón de urgencia y se realizó exeresis de la hernia. Egresó al séptimo día con discreta mejoría clínica. Se ha seguido en consulta externa durante un periodo de 8 meses, con muy poca recuperación del control esfinteriano, de la actividad motora y sensitiva.Horse-tail represents the caudal continuation of the spinal cord. This portion of the nervous system is the seat of numerous pathologies. We present a case report of acute debuted with a syndrome of the cauda equina, secondary to traumatic lumbar disc herniation. This is a male patient aged 45, who was admitted to the emergency room because he referred acute and progressive symptoms starting seven days before, after falling from three meters high. By questioning, we found muscle weakness in his left leg and difficulty at walking. The physical examination confirmed the decrease in muscle strength and Achilles-plantar areflexia. We performed MRI, which showed extruded disc herniation in L5-S1 interspace. The patient was taken to the emergency room and we performed the hernia excision. He was discharged at the seventh day with mild clinical

Transmisión experimental del virus de la encefalitis equina venezolana, subgrupo ID, por psorophora confinnis a ratones

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Alberto Morales

1983-06-01

Full Text Available Se realizó un experimento con el objeto de investigar la capacidad del mosquito Psorophora confinnis para transmitir por picadura a ratones blanco-suizos de 21 días una cepa de virus de encefalitis equina venezolana, subgrupo ID. Cuando los mosquitos se alimentaron sobre hamster con altas viremias (7.5, 6.5 y 6.3 dex en 0.1 ml. de suero, los porcentajes de infección de los mosquitos y los de transmisión fueron altos. Sin embargo, cuando los mosquitos se alimentaron sobre Proechimys hendei con viremias bajas (1,4 y 2.6 dex en 0.1 ml. de suero el porcentaje de infección de los mosquitos fue muy bajo y no hubo transmisión. Cuando la viremia en el Proechimys fue de 4.4 dex en 0.1 ml. de suero, el porcentaje de infección de los mosquitos aumentó y hubo transmisión baja (9%. Los resultados sugieren que Psorophora confinnis es un mosquito que tiene un alto umbral de infección para EEV subgrupo ID.

Ultrastructural investigation of antennae in three cutaneous myiasis flies: Melophagus ovinus, Hippobosca equina, and Hippobosca longipennis (Diptera: Hippoboscidae).

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Zhang, D; Liu, X H; Li, X Y; Cao, J; Chu, H J; Li, K

2015-05-01

Melophagus ovinus (Linnaeus 1758), Hippobosca equina Linnaeus, 1758, and Hippobosca longipennis Fabricius, 1805 (Diptera: Hippoboscidae) are economically and medically important ectoparasites that can act as mechanic vectors of pathogens and cause myiasis in both human and domestic animals. As essential olfactory organs, antennae of these adult hippoboscids were examined using stereoscopic and scanning electron microscopes. General morphology of the antenna is provided in detail, combined with distribution, types, size, and ultrastructures of antennal sensilla. On the antennal funiculus, two types of sensilla are observed, including basiconic sensilla and coeloconic sensilla. Four common characters are shared among the three species: (1) the scape is either obsolete or fused with the fronto-clypeus; (2) branched antennal structures (branched pedicellar microtrichiae and branched arista with only one segment) are detected; (3) the enlarged antennal pedicel completely envelops the antennal funiculus; and (4) less types of sensilla on funiculus. Disparity and diversity of the antennal and sensory structures are analyzed from the phylogenetic and functional perspective. We suggest that hippoboscids are potential model for the study of the function of coeloconic sensilla in Calyptratae.

Análisis de la variabilidad y relaciones filogenéticas de las razas equinas autóctonas españolas de aptitud cárnica a partir del ADN mitocondrial

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Gómez Ortiz, María Dolores; Romero, F.; Valera Córdoba, María Mercedes; Jordana, J.; Alonso, M.E.; Azor Ortiz, Pedro Javier

2008-01-01

Publicado en el año 2008 en: Revista ITEA, 104 (2), 283-289. http://www.aida-itea.org/index.php/revista/contenidos?idArt=85&lang=esp Webs desde donde descargar las ponencias: http://acteon.webs.upv.es/ Web del congreso: http://www.uco.es/genetica/MERAGEM/xivreunion.htm Se han estudiado la variabilidad y relaciones genéticas de las cuatro poblaciones equinas de aptitud cárnica de España de protección especial (41 muestras) (Burguete (BUR): 10, Jaca Navarra (JAC): 11, Hispano ...

CARACTERIZACIÓN CLÍNICA Y PATÓLOGICA DE LA ENCEFALITIS EQUINA VENEZOLANA SUBTIPO IE EN UNA REGIÓN ENDÉMICA EN EL SUR DEL ESTADO DE VERACRUZ EN MODELOS EQUINOS

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FABELA BECERRIL, VERÓNICA ALEJANDRINA

2016-01-01

La Encefalitis Equina Venezolana (EEV) es una enfermedad que se presenta principalmente en equinos y humanos y se caracteriza por un cuadro febril que en ocasiones va seguido de uno neurológico y la muerte. El agente etiológico es un virus clasificado dentro de la familia Togaviridae, género alfavirus (1) , el cual fue reconocido por primera vez en Venezuela por Beck y Wickoff en 1938 y por Kubes y Ríos en 1939 (2, 3, 4, 5, 6, 7, 8) La enfermedad se consideró propia del norte de Sudamérica...

FIRST SOUND EVIDENCE OF MUSCLE REGENERATION IN RECOVERY OF FUNCTION OF HUMAN PERMANENT DENERVATED MUSCLES BY A LONG-LASTING FUNCTIONAL ELECTRICAL STIMULATION (FES TRAINING: BIOPSY FINDINGS

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Helmut Kern

2004-12-01

Full Text Available Contrary to general believe, in one case of 18month cauda equina lesion four-month electrical stimulation of thigh muscles (impulse energy 1.92 Joule increased stimulation frequency from 2 to 20 Hz, i. e., up to tetanic contractions. After 2 years of treatment, CT-cross sectional area of quadriceps improved 58.3% (right and 44.4% (left with increased muscle density. Mean myofiber size was 37.2 ± 24.8 µm (right and 40.5 ±  24.9 µm (left. Improvement of stimulated knee torque, from zero to 12.0 Nm and 10.5 Nm, respectively, enabled to stand up trials. Surviving myofibers undergo re-growth (they show the chess board appearance of normal muscle, and dying myofibers continuously regenerate (up to 3% are embryonic myosin positive 3-year post-FES. Regeneration events are essential components of the FES rehabilitation protocol due to superior excitability of regenerated myofibers in comparison to long-term denervated, degenerated myofibers, which were almost not excitable before FES training.

Leptomeningeal carcinomatosis from perineural invasion of a lip squamous cell carcinoma

International Nuclear Information System (INIS)

Sullivan, L.M.; Smee, R.

2006-01-01

Perineural invasion resulting in leptomeningeal carcinomatosis is a rare, but well-recognized phenomenon in head and neck carcinomas. We report the rare case of a patient with a squamous cell carcinoma of the lip resulting in leptomeningeal carcinomatosis and review the relevant published work. A 51-year-old man presented with progressive facial paraesthesia after treatment for a recurrent squamous cell carcinoma of the lower lip. Cavernous sinus involvement was confirmed on MRI and he received stereotactic radiotherapy. He subsequently developed progressive lower limb neurological signs. An MRI showed multiple enhancing leptomeningeal nodules in the cervical and lumbar spine consistent with leptomeningeal carcinomatosis. Whole spine radiotherapy and dexametha-sone resulted in short-term stabilization of symptoms only and he rapidly succumbed to progressive neurological disease. To our knowledge, this is the first published report of a squamous cell carcinoma of the lip resulting in leptomeningeal disease of the cauda equina. It illustrates the potential aggressive natural history of squamous cell carcinomas with perineural invasion Copyright (2006) Blackwell Publishing Asia Pty Ltd

Imaging of congenital anomalies and variations of the caudal spine and back in neonates and small infants

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Schenk, Jens-Peter [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany)]. E-mail: Jens-Peter_Schenk@med.uni-heidelberg.de; Herweh, Christian [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany); Department of Neuroradiology, University of Heidelberg (Germany); Guenther, Patrick [Department of Pediatric Surgery, University of Heidelberg (Germany); Rohrschneider, Wiltrud [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany); Zieger, Birgit [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany); Troeger, Jochen [Department of Pediatric Radiology, University of Heidelberg, Im Neuenheimer Feld 153, 69120 Heidelberg (Germany)

2006-04-15

Spinal dysraphisms are categorized in open dysraphisms with prominent abnormal nervous tissue above the skinlevel and closed dysraphisms with a skin covered malformation. Especially the occult dysraphisms are marked by suspect skin masses and other dermal anomalies. The purpose of this review is to demonstrate the indications and spectrum of spinal sonography in neonates and infants. In comparison typical dysraphisms are demonstrated in sonography and MR Imaging. We demonstrate the value of ultrasound in comparison to MRI and describe a useful handling of the methods in neonates and infants. The differentiation between the potentially dangerous dimples associated with dermal sinus, which can lead to meningitis and the harmless coccygeal dimple in the cranial gluteal cleft is presented. An inconspicious examination does not need a further imaging, but suspicious results of sonography need an MR imaging dependent of clinical conditions. Neurologically conspicious infants need MR imaging completed by sonography. Great advantages of sonography are the real time examination and the potential to show oscillations of the conus, filum and cauda equina in M-mode-imaging.

[Meningoradiculitis caused by herpes simplex virus type 2].

Science.gov (United States)

Bollen, A E; Venema, A W; Veldkamp, K E

2007-10-27

A 24-year-old immune-competent woman was admitted to hospital with a three-day history of fever and headache. On examination bilateral facial nerve palsy, lumbosacral radicular pain, reduced sacral sensibility and urinary retention were found. Open perianal lesions were suspect for genital herpes. The symptoms were compatible with a meningoradiculitis including a sacral polyradiculitis. On testing, cerebrospinal fluid was found to be abnormal with a lymphocytic cell reaction. Polymerase chain reaction (PCR) of cerebrospinal fluid and of the perianal lesions was positive for herpes simplex virus type 2 (HSV-2). An MRI scan showed colouration of part of the cauda equina. The patient was treated by intravenous injections of acyclovir 10 mg/kg t.i.d. for 21 days, after which she completely recovered. HSV-2 infection of the nervous system can cause lymphocytic, and sometimes recurrent meningitis as well as sacral polyradiculitis. It may also occur without any symptomatic genital herpes infection. A positive result from a PCR test of the cerebrospinal fluid confirms this diagnosis. Treatment with acyclovir should be started as soon as possible.

Top ten research priorities for spinal cord injury: the methodology and results of a British priority setting partnership.

Science.gov (United States)

van Middendorp, J J; Allison, H C; Ahuja, S; Bracher, D; Dyson, C; Fairbank, J; Gall, A; Glover, A; Gray, L; Masri, W El; Uttridge, A; Cowan, K

2016-05-01

This is a mixed-method consensus development project. The objective of this study was to identify a top ten list of priorities for future research into spinal cord injury (SCI). The British Spinal Cord Injury Priority Setting Partnership was established in 2013 and completed in 2014. Stakeholders included consumer organisations, healthcare professional societies and caregivers. This partnership involved the following four key stages: (i) gathering of research questions, (ii) checking of existing research evidence, (iii) interim prioritisation and (iv) a final consensus meeting to reach agreement on the top ten research priorities. Adult individuals with spinal cord dysfunction because of trauma or non-traumatic causes, including transverse myelitis, and individuals with a cauda equina syndrome (henceforth grouped and referred to as SCI) were invited to participate in this priority setting partnership. We collected 784 questions from 403 survey respondents (290 individuals with SCI), which, after merging duplicate questions and checking systematic reviews for evidence, were reduced to 109 unique unanswered research questions. A total of 293 people (211 individuals with SCI) participated in the interim prioritisation process, leading to the identification of 25 priorities. At a final consensus meeting, a representative group of individuals with SCI, caregivers and health professionals agreed on their top ten research priorities. Following a comprehensive, rigorous and inclusive process, with participation from individuals with SCI, caregivers and health professionals, the SCI research agenda has been defined by people to whom it matters most and should inform the scope and future activities of funders and researchers for the years to come. The NIHR Oxford Biomedical Research Centre provided core funding for this project.

Prevalence of lumbosacral transitional vertebrae in dogs in the Czech Republic

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Iva Fialová

2014-01-01

Full Text Available Lumbosacral transitional vertebra is a common congenital anomaly of the spine in dogs. It is a predisposing factor for degeneration of the lumbosacral spine and development of cauda equina syndrome or hip dysplasia in affected dogs. The aim of the study was to determine breed predisposition, types, and prevalence of lumbosacral transitional vertebrae in the canine population in the Czech Republic. The value of laterolateral radiographs of the lumbosacral junction in the diagnosis of LTV was also evaluated. Prevalence of lumbosacral transitional vertebrae was determined by reviewing ventrodorsal radiographs of pelvis with an extended hip of 1,878 dogs. Lumbosacral transitional vertebrae were detected in 188 dogs (10%. German Shepherd, Alaskan Malamute and Bohemian Shepherd were found to be highly predisposed breeds. The most common type of lumbosacral transitional vertebra was type II with separation of the first sacral vertebra from sacrum and presence of rudimentary intervertebral space between S1 and the sacral median crest (37.8% of the lumbosacral transitional vertebrae. Type I was detected in 29.2% and the asymmetric type of the lumbosacral transitional vertebra (type III in 33%. Laterolateral radiograph of the lumbosacral spine was evaluated in 126 dogs from 188 with lumbosacral transitional vertebrae. Rudimentary intervertebral disc space between S1 and S2 in laterolateral radiographs was detected in 100% of lumbosacral transitional vertebrae with type II and III, and was not detected in type I. The findings on lumbosacral transitional vertebrae in the Czech Republic will extend knowledge about the disease. Both ventrodorsal hip-extended and laterolateral radiographs should be recommended for routine screening and reliable differentiation among the three different types of lumbosacral transitional vertebra.

Mielitis aguda necrotizante en un paciente con Sida Acute necrotizing myelitis in an AIDS patient

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M. Corti

2003-04-01

Full Text Available Como consecuencia de la infección por el virus de la inmunodeficiencia humana tipo-1 (HIV-1, otros patógenos como citomegalovirus (CMV y herpes simple tipo 1-2 (HSV 1-2 pueden comprometer tanto el sistema nervioso central como el periférico. Estos agentes pueden involucrar también a la médula espinal y causar una mielitis aguda necrotizante. Esta complicación ocurre por lo general en pacientes con enfermedad HIV/sida avanzada y marcada inmunodeficiencia, con recuentos de linfocitos T CD4+ de menos de 50 cél/µL. El cuadro clínico, los cambios en el LCR y las neuroimágenes generan una importante sospecha diagnóstica. Es fundamental el inicio precoz de la terapia antiviral específica. Se presenta un paciente con enfermedad avanzada debida al HIV-1 y mielitis aguda necrotizante por CMV y HSV bajo la forma clínica de síndrome de la cola de caballo.In the setting of HIV infection, cytomegalovirus (CMV and herpes simplex virus type 1-2 (HSV 1-2 can affect both the central and peripheral nervous systems. These agents can involve the spinal cord and produce a necrotizing transverse myelitis. This usually occurs in AIDS patients with severe immunodeficiency: CD4 + lymphocyte counts typically are less than 50 cell/µL. The clinical presentation, CSF and imaging studies can provide a high level of suspicion diagnosis. Prompt initiation of antiviral specific drugs is essential. We report a patient with an acute necrotizing myelitis (cauda equina syndrome secondary to CMV and HSV infections.

Functional neurologic recovery in two dogs diagnosed with severe

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Mônica Vicky Bahr Arias

2015-04-01

Full Text Available Traumatic injuries to the vertebral column, spinal cord, and cauda equina nerve roots occur frequently in human and veterinary medicine and lead to devastating consequences. Complications include partial or complete loss of motor, sensory, and visceral functions, which are among the main causes of euthanasia in dogs. The present case report describes neurological functional recovery in two dogs that were treated surgically for severe spinal fracture and vertebral luxation. In the first case, a stray, mixed breed puppy was diagnosed with thoracolumbar syndrome and Schiff-Scherrington posture, as well as a T13 caudal epiphyseal fracture with 100% luxation between vertebrae T13 and L1; despite these injuries, the animal did show deep pain sensation in the pelvic limbs. Decompression through hemilaminectomy and spinal stabilization with vertebral body pins and bone cement were performed, and the treatment was supplemented with physiotherapy and acupuncture . In the second case, a mixed breed dog was diagnosed with a vertebral fracture and severe luxation between L6 and L7 after a vehicular trauma, but maintained nociception and perineal reflex. Surgical stabilization of the spine was performed using a modified dorsal segmental fixation technique Both patients showed significant recovery of neurological function. Complete luxation of the spinal canal observed radiographically does not mean a poor prognosis, and in some cases, motor, sensory, and visceral functions all have the potential for recovery. In the first case the determining factor for good prognosis was the presence of deep pain perception, and in the second case the prognosis was determined by the presence of sensitivity and anal sphincter tone during the initial neurological examination

Haemodynamic preservation in cesarean sections by low dose 0.5% hyperbaric bupivacaine

International Nuclear Information System (INIS)

Ahmad, M.; Ahmad, M.

2017-01-01

Spinal anaesthesia is technique of choice for caesarean sections and hyperbaric bupivacaine is a recommended drug for this popular block. Although safe but few complications are haemodynamic changes, postdural puncture headache, cauda equina syndrome and radiculopathy. However, hypotension remains the common side effect which is believed to occur in 95% of patients resulting in reduction of uteroplacental perfusion causing foetal acid-base abnormalities. Various doses regimes are in safe anaesthesia practice for providing regional anaesthesia for such patients with least detrimental effects on foetal outcome. This study was carried out to find the effective dose of 0.5% hyperbaric bupivacaine in caesarean section patients by comparing two different doses. Methods: After enrolling two hundred patients of C section (Caesarean section) for this study, 90 patients were selected to compare the effects of 0.5% hyperbaric bupivacaine. Group A (n=45) received 10 mg of drug while group B (n=45) received 12 mg for spinal anaesthesia. Onset of block, sensory and motor level, haemodynamic changes, surgery time, maternal satisfaction, APGAR score and incidence of complications were compared in two groups. Results: Blood pressure decreases were less in Group A (p-0.074) but not statistically significant. Phenylephrine for hypotension was given to 17% vs 5% in group B. Maternal satisfaction was found to be better in group B 33 vs 17 but was statistically significant (p 0.034). 2% patients had bradycardia in group A which was treated by atropine. No complications were reported in either group. Conclusion: Doses of hyperbaric bupivacaine for spinal anaesthesia in caesarean sections must be at least 12 mg because it produces excellent anaesthesia and maternal satisfaction without complications. (author)

3D False Color Computed Tomography for Diagnosis and Follow-Up of Permanent Denervated Human Muscles Submitted to Home-Based Functional Electrical Stimulation.

Science.gov (United States)

Carraro, Ugo; Edmunds, Kyle J; Gargiulo, Paolo

2015-03-11

This report outlines the use of a customized false-color 3D computed tomography (CT) protocol for the imaging of the rectus femoris of spinal cord injury (SCI) patients suffering from complete and permanent denervation, as characterized by complete Conus and Cauda Equina syndrome. This muscle imaging method elicits the progression of the syndrome from initial atrophy to eventual degeneration, as well as the extent to which patients' quadriceps could be recovered during four years of home-based functional electrical stimulation (h-b FES). Patients were pre-selected from several European hospitals and functionally tested by, and enrolled in the EU Commission Shared Cost Project RISE (Contract n. QLG5-CT-2001-02191) at the Department of Physical Medicine, Wilhelminenspital, Vienna, Austria. Denervated muscles were electrically stimulated using a custom-designed stimulator, large surface electrodes, and customized progressive stimulation settings. Spiral CT images and specialized computational tools were used to isolate the rectus femoris muscle and produce 3D and 2D reconstructions of the denervated muscles. The cross sections of the muscles were determined by 2D Color CT, while muscle volumes were reconstructed by 3D Color CT. Shape, volume, and density changes were measured over the entirety of each rectus femoris muscle. Changes in tissue composition within the muscle were visualized by associating different colors to specified Hounsfield unit (HU) values for fat, (yellow: [-200; -10]), loose connective tissue or atrophic muscle, (cyan: [-9; 40]), and normal muscle, fascia and tendons included, (red: [41; 200]). The results from this analysis are presented as the average HU values within the rectus femoris muscle reconstruction, as well as the percentage of these tissues with respect to the total muscle volume. Results from this study demonstrate that h-b FES induces a compliance-dependent recovery of muscle volume and size of muscle fibers, as evidenced by the

Selection of the regions of interest (SRI) in the SPECT semi-quantitative analysis of central dopaminergic receptors

International Nuclear Information System (INIS)

Baulieu, J.L.; Prunier-Levilion, C.; Tranquart, F.; Ribeiro, M.J.; Chartier, J.R.; Guilloteau, D.; Autret, A.; Besnard, J.C.; Bekhechi, D.; Chossat, F.

1997-01-01

The aim of this work was to compare different types of SRIs used in the SPECT semi-quantitative analysis of central dopaminergic receptors. The SPECT with 123 I iodolisuride (Cis bio international) was carried out in the same center with a Helix - Elscint double head camera with 'fan beam', one hour after injection of 123 I iodolisuride (190 ± 31 MBq). In 8 patients afflicted with Parkinson's disease (group 1) and 9 patients presenting an extra-pyramidal syndrome by striatal stretching (group 2), two approaches of SRI tracing were undertaken: 1. Geometrical and standard (circles, ellipses, rectangles) SRIs; 2. Anatomical and individual SRIs based on TDM and perfusion scintigraphy. The SRIs were placed on the entire striatum, the head of cauda nucleus, putamen, thalamus, frontal, occipital cortex and cerebellum. In total, for each patient, 31 ratios were calculated of the striatal activity and the activity of a references zone. The discriminative value of the ratios was evaluated by the p value of comparison between groups 1 and 2. A correlation has been searched for between the ratios taken 2 by 2. The most discriminative ratios were: cauda/occipital, cauda/frontal, striatum/occipital based on geometrical standard SRIs (p 0.001, p = 0.002, p = 0.003, respectively). A close correlation has been found between the ratios with occipital and cerebellar references (r 2 0.71) but not between the ratios with frontal or occipital reference, or frontal and cerebellum reference. In the employed conditions, the geometrical tracing of the SRIs is preferable as against an anatomic tracing. The occipital cortex is the best reference while the frontal activity can not be retained as reference. The cauda/occipital ratios allow a very good discrimination between the Parkinson's disease and other extra pyramidal syndromes investigated by 123 I iodolisuride SPECT

Red Flags for Low Back Pain Are Not Always Really Red: A Prospective Evaluation of the Clinical Utility of Commonly Used Screening Questions for Low Back Pain.

Science.gov (United States)

Premkumar, Ajay; Godfrey, William; Gottschalk, Michael B; Boden, Scott D

2018-03-07

Low back pain has a high prevalence and morbidity, and is a source of substantial health-care spending. Numerous published guidelines support the use of so-called red flag questions to screen for serious pathology in patients with low back pain. This paper examines the effectiveness of red flag questions as a screening tool for patients presenting with low back pain to a multidisciplinary academic spine center. We conducted a retrospective review of the cases of 9,940 patients with a chief complaint of low back pain. The patients completed a questionnaire that included several red flag questions during their first physician visit. Diagnostic data for the same clinical episode were collected from medical records and were corroborated with imaging reports. Patients who were diagnosed as having a vertebral fracture, malignancy, infection, or cauda equina syndrome were classified as having a red flag diagnosis. Specific individual red flags and combinations of red flags were associated with an increased probability of underlying serious spinal pathology, e.g., recent trauma and an age of >50 years were associated with vertebral fracture. The presence or absence of other red flags, such as night pain, was unrelated to any particular diagnosis. For instance, for patients with no recent history of infection and no fever, chills, or sweating, the presence of night pain was a false-positive finding for infection >96% of the time. In general, the absence of red flag responses did not meaningfully decrease the likelihood of a red flag diagnosis; 64% of patients with spinal malignancy had no associated red flags. While a positive response to a red flag question may indicate the presence of serious disease, a negative response to 1 or 2 red flag questions does not meaningfully decrease the likelihood of a red flag diagnosis. Clinicians should use caution when utilizing red flag questions as screening tools.

Counting the cost of negligence in neurosurgery: Lessons to be learned from 10 years of claims in the NHS.

Science.gov (United States)

Hamdan, Alhafidz; Strachan, Roger D; Nath, Fredrick; Coulter, Ian C

2015-04-01

Despite substantial progress in modernising neurosurgery, the specialty still tops the list of medico-legal claims. Understanding the factors associated with negligence claims is vital if we are to identify areas of underperformance and subsequently improve patient safety. Here we provide data on trends in neurosurgical negligence claims over a 10-year period in England. We used data provided by the National Health Service Litigation Authority to analyse negligence claims related to neurosurgery from the financial years 2002/2003 to 2011/2012. Using the abstracts provided, we extracted information pertaining to the underlying pathology, injury severity, nature of misadventure and claim value. Over the 10-year period, the annual number of claims increased significantly. In total, there were 794 negligence claims (range 50-117/year); of the 613 closed cases, 405 (66.1%) were successful. The total cost related to claims during the 10 years was £65.7 million, with a mean claim per successful case of £0.16 million (total damages, defence and claimant costs of £45.1, £6.36 and £14.3 million, respectively). Claims related to emergency cases were more costly compared to those of elective cases (£209,327 vs. £112,627; P=0.002). Spinal cases represented the most frequently litigated procedures (350; 44.1% of total), inadequate surgical performance the most common misadventure (231; 29.1%) and fatality the commonest injury implicated in claims (102; 12.8%). Negligence claims related to wrong-site surgery and cauda equina syndrome were frequently successful (26/26; 100% and 14/16; 87.5% of closed cases, respectively). In England, the number of neurosurgical negligence claims is increasing, the financial cost substantial, and the burden significant. Lessons to be learned from the study are of paramount importance to reduce future cases of negligence and improve patient care.

Imaging and outcome in severe complications of lumbar epidural anaesthesia: report of 16 cases

Energy Technology Data Exchange (ETDEWEB)

Chiapparini, L.; Savoiardo, M. [Department of Neuroradiology, Istituto Nazionale Neurologico, Milano (Italy); Sghirlanzoni, A.; Pareyson, D. [Department of Neurology, Istituto Nazionale Neurologico, Milano (Italy)

2000-08-01

We reviewed the clinical and neuroradiological features in 16 patients with serious neurological complications of lumbar epidural anaesthesia. We observed acute, transient or permanent and delayed complications. Four patients had symptoms immediately after the procedure. One patient developed a subacute flaccid paraparesis. Two other patients had infectious spondylodiscitis at lumbar puncture level. Eight patients had a delayed progressive spastic paraparesis and were found to have subarachnoid cysts and irregularities of the surface of the spinal cord consistent with arachnoiditis; six of them had an extensive, complex syrinx within the cord. One patient had a severe lumbar polyradiculopathy, and MRI showed adhesive arachnoiditis involving the cauda equina. Although epidural anaesthesia is generally considered safe, rare but severe complications, such as radiculopathy, infectious disease, myelopathy from ischemia and arachnoiditis with a syrinx may occur. The patients with arachnoiditis had a relentless progression of the disease and a poor outcome: five are confined to a wheelchair, one is bedridden. Complications of epidural anaesthesia are easily recognised when they develop immediately; their relationship to the anaesthesia may be ignored or underestimated when they appear after a delay. Awareness of the possibility of delayed complications is important. (orig.)

Imaging and outcome in severe complications of lumbar epidural anaesthesia: report of 16 cases

International Nuclear Information System (INIS)

Chiapparini, L.; Savoiardo, M.; Sghirlanzoni, A.; Pareyson, D.

2000-01-01

We reviewed the clinical and neuroradiological features in 16 patients with serious neurological complications of lumbar epidural anaesthesia. We observed acute, transient or permanent and delayed complications. Four patients had symptoms immediately after the procedure. One patient developed a subacute flaccid paraparesis. Two other patients had infectious spondylodiscitis at lumbar puncture level. Eight patients had a delayed progressive spastic paraparesis and were found to have subarachnoid cysts and irregularities of the surface of the spinal cord consistent with arachnoiditis; six of them had an extensive, complex syrinx within the cord. One patient had a severe lumbar polyradiculopathy, and MRI showed adhesive arachnoiditis involving the cauda equina. Although epidural anaesthesia is generally considered safe, rare but severe complications, such as radiculopathy, infectious disease, myelopathy from ischemia and arachnoiditis with a syrinx may occur. The patients with arachnoiditis had a relentless progression of the disease and a poor outcome: five are confined to a wheelchair, one is bedridden. Complications of epidural anaesthesia are easily recognised when they develop immediately; their relationship to the anaesthesia may be ignored or underestimated when they appear after a delay. Awareness of the possibility of delayed complications is important. (orig.)

Efecto de la administración de diferentes dosis de gonadotrofina coriónica equina sobre la respuesta ovárica y el desarrollo in vitro de embriones de ratón Effect of different doses of equine chorionic gonadotropin on ovary response and in vitro mouse embryo development

OpenAIRE

M. T. Teruel; R. C. Catalano; S. S. Callejas; J. A. Cabodevila; S. Gómez

2006-01-01

El objetivo del trabajo fue evaluar el efecto de diferentes dosis de gonadotrofina coriónica equina (eCG) (5, 7,5 o 10 UI) sobre parámetros ováricos y desarrollo in vitro de embriones de hembras ratón Balb C. El peso y diámetro ovárico fueron superiores en animales tratados con 7,5 y 10 UI de eCG que en animales controles (P

Use of GDNF Releasing Nanofiber Nerve Guide Conduits for the Repair of Conus Medullaris/Cauda Equina Injury in the Nonhuman Primate

Science.gov (United States)

2015-02-01

inserted about 10-15 mm into the rectal opening to provide a gentle distension of the EAS. The probe is held in place for 5 seconds and next...encouraging use of the weak leg and limit potential muscular contractures. The subjects were trained to perform treadmill walking on the moving belt at

3D false color computed tomography for diagnosis and follow-up of permanent denervated human muscles submitted to home-based Functional Electrical Stimulation

Directory of Open Access Journals (Sweden)

Ugo Carraro

2015-03-01

Full Text Available This report outlines the use of a customized false-color 3D computed tomography (CT protocol for the imaging of the rectus femoris of spinal cord injury (SCI patients suffering from complete and permanent denervation, as characterized by complete Conus and Cauda Equina syndrome. This muscle imaging method elicits the progression of the syndrome from initial atrophy to eventual degeneration, as well as the extent to which patients' quadriceps could be recovered during four years of home-based functional electrical stimulation (h-b FES. Patients were pre-selected from several European hospitals and functionally tested by, and enrolled in the EU Commission Shared Cost Project RISE (Contract n. QLG5-CT-2001-02191 at the Department of Physical Medicine, Wilhelminenspital, Vienna, Austria. Denervated muscles were electrically stimulated using a custom-designed stimulator, large surface electrodes, and customized progressive stimulation settings. Spiral CT images and specialized computational tools were used to isolate the rectus femoris muscle and produce 3D and 2D reconstructions of the denervated muscles. The cross sections of the muscles were determined by 2D Color CT, while muscle volumes were reconstructed by 3D Color CT. Shape, volume, and density changes were measured over the entirety of each rectus femoris muscle. Changes in tissue composition within the muscle were visualized by associating different colors to specified Hounsfield unit (HU values for fat, (yellow: [-200; -10], loose connective tissue or atrophic muscle, (cyan: [-9; 40], and normal muscle, fascia and tendons included, (red: [41; 200]. The results from this analysis are presented as the average HU values within the rectus femoris muscle reconstruction, as well as the percentage of these tissues with respect to the total muscle volume. Results from this study demonstrate that h-b FES induces a compliance-dependent recovery of muscle volume and size of muscle fibers, as

Lumbosacral pain: Delivery of care to patients in the United Kingdom Podchufarova E.

Directory of Open Access Journals (Sweden)

E.V. Podchufarova

2014-01-01

well as determination of the signs of psychosocial ill-being and correction of therapy with consideration for identified disorders.Management of patients with subacute and chronic pain (persisting for >6 weeks, but <1 year involves the regular reconsideration of whether the diagnosis of nonspecific back pain is correct in order to rule out possible specific causes. MRI is indicated when a patient is decided to be referred for surgical treatment or there is presumptive evidence for spinal tumors, infectious, inflammatory, or traumatic injury, or cauda equina syndrome. It is optimal to start treatment with a program of therapeutic exercises, manual therapy, or acupuncture. Drug therapy encompasses NSAIDs, acetaminophen, and opioids to treat intensive pain syndrome.

Imperfuração anal associada à agenesia parcial do sacro e lipoma pré-sacral: síndrome de Currarino Imperforate anus associated with partial sacral agenesis and presacral lipoma: Currarino syndrome

Directory of Open Access Journals (Sweden)

Paulo Ricardo G. Zen

2010-09-01

Full Text Available OBJETIVO: Relatar o caso de uma criança com síndrome de Currarino diagnosticada após avaliação por episódios recorrentes de infecção urinária. DESCRIÇÃO DE CASO: Menina branca de dois anos, única filha de pais hígidos e sem história familiar de defeitos congênitos. A criança nasceu com imperfuração anal e com fístula retovestibular diagnosticadas no primeiro dia de vida. Por volta dos sete meses, começou a apresentar episódios recorrentes de infecção urinária, estabelecendo-se o diagnóstico de bexiga neurogênica. Na mesma ocasião, foi constatada a presença de agenesia parcial do sacro. A avaliação pela tomografia computadorizada e ressonância nuclear magnética de coluna identificou presença de fístula coincidente com a fosseta da transição lombo-sacral, observada ao exame físico; amputação da porção inferior da medula, com diminuição do número de raízes nervosas da cauda equina e massa pré-sacral de aspecto lipomatoso. Esta foi confirmada durante a cirurgia de correção do ânus imperfurado. A criança não apresentava outras dismorfias e a avaliação radiológica dos pais não identificou anormalidades sacrais. COMENTÁRIOS: A síndrome de Currarino é uma doença genética autossômica, dominante e rara caracterizada pela tríade formada por atresia anal, agenesia parcial do sacro e tumoração pré-sacral. Inclui teratomas, meningoceles, cistos entéricos e lipomas, como observado em nossa paciente. Crianças apresentando anormalidades anorretais deveriam ser sempre cuidadosamente avaliadas quanto à presença da síndrome de Currarino. A agenesia parcial do sacro é um forte indicativo da doença.OBJECTIVE: To report a patient with Currarino syndrome diagnosed after evaluation for recurrent urinary infections. CASE DESCRIPTION: This is a Caucasian two-year-old girl, the only daughter of healthy unrelated parents with no family history of congenital defects. The patient was born with imperforate

Consensus conference on core radiological parameters to describe lumbar stenosis - an initiative for structured reporting

Energy Technology Data Exchange (ETDEWEB)

Andreisek, Gustav; Winklhofer, Sebastian F.X. [University Hospital Zurich, Department of Radiology, Zurich (Switzerland); Deyo, Richard A. [Oregon Health and Science University, Portland, OR (United States); Jarvik, Jeffrey G. [University of Washington, Seattle, WA (United States); Porchet, Francois [Schulthess Klinik, Zuerich (Switzerland); Steurer, Johann [University Hospital Zurich, Horten Center for patient oriented research and knowledge transfer, Zurich (Switzerland); Collaboration: On behalf of the LSOS working group

2014-12-15

To define radiological criteria and parameters as a minimum standard in a structured radiological report for patients with lumbar spinal stenosis (LSS) and to identify criteria and parameters for research purposes. All available radiological criteria and parameters for LSS were identified using systematic literature reviews and a Delphi survey. We invited to the consensus meeting, and provided data, to 15 internationally renowned experts from different countries. During the meeting, these experts reached consensus in a structured and systematic discussion about a core list of radiological criteria and parameters for standard reporting. We identified a total of 27 radiological criteria and parameters for LSS. During the meeting, the experts identified five of these as core items for a structured report. For central stenosis, these were ''compromise of the central zone'' and ''relation between fluid and cauda equina''. For lateral stenosis, the group agreed that ''nerve root compression in the lateral recess'' was a core item. For foraminal stenosis, we included ''nerve root impingement'' and ''compromise of the foraminal zone''. As a minimum standard, five radiological criteria should be used in a structured radiological report in LSS. Other parameters are well suited for research. (orig.)

Predictive Factors for Subjective Improvement in Lumbar Spinal Stenosis Patients with Nonsurgical Treatment: A 3-Year Prospective Cohort Study.

Directory of Open Access Journals (Sweden)

Ko Matsudaira

Full Text Available To assess the predictive factors for subjective improvement with nonsurgical treatment in consecutive patients with lumbar spinal stenosis (LSS.Patients with LSS were enrolled from 17 medical centres in Japan. We followed up 274 patients (151 men; mean age, 71 ± 7.4 years for 3 years. A multivariable logistic regression model was used to assess the predictive factors for subjective symptom improvement with nonsurgical treatment.In 30% of patients, conservative treatment led to a subjective improvement in the symptoms; in 70% of patients, the symptoms remained unchanged, worsened, or required surgical treatment. The multivariable analysis of predictive factors for subjective improvement with nonsurgical treatment showed that the absence of cauda equina symptoms (only radicular symptoms had an odds ratio (OR of 3.31 (95% confidence interval [CI]: 1.50-7.31; absence of degenerative spondylolisthesis/scoliosis had an OR of 2.53 (95% CI: 1.13-5.65; <1-year duration of illness had an OR of 3.81 (95% CI: 1.46-9.98; and hypertension had an OR of 2.09 (95% CI: 0.92-4.78.The predictive factors for subjective symptom improvement with nonsurgical treatment in LSS patients were the presence of only radicular symptoms, absence of degenerative spondylolisthesis/scoliosis, and an illness duration of <1 year.

CT findings predictive of neurological deficits in throracolumbar burst fractures

Energy Technology Data Exchange (ETDEWEB)

Moon, Tae Yong; Jeong, Hee Seok; Jeong, Yeo Jin [Pusan National University and Research Institute for Convergence of Biomedical Science and Technology, Dept. of Radiology, Pusan National University Yangsan Hospital, Yangsan (Korea, Republic of); Lee, In Sook [Dept. of Radiology, Pusan National University Hospital, Busan (Korea, Republic of)

2016-09-15

To determine the computed tomography (CT) findings predictive of neurological deficits in thoracolumbar spine injuries. One hundred two patients with thoracolumbar spinal burst fractures, after excluding the patients with brain and cervical cord injuries and unconsciousness, who underwent consecutive spine 128-multidetector CT scan formed the study group. The neurological findings were clinically classified as no deficit (n = 58), complete deficit with paraplegia (n = 22), and incomplete deficit with either motor or sensory impairment (n = 22). The following four CT imaging parameters were analyzed: the level of the main burst fracture as the cord (n = 44) and the cauda equina (n = 58) levels; the extent of canal encroachment as central canal ratios (CCRs) below 0.5 (n = 43) and above 0.5 (n = 59); the degree of laminar fracture as no fracture (n = 33), linear fracture (n = 7), separated fracture (n = 27), and displaced fracture (n = 35); fractured vertebra counted as single (n = 53) and multiple (n = 49). Complete neurological deficit was associated with injuries at the cord level (p = 0.000) and displaced laminar fractures (p = 0.000); incomplete neurological deficit was associated with CCRs below 0.5 (p = 0.000) and multiple vertebral injuries (p = 0.002). CT scan can provide additional findings predictive of neurological deficits in thoracolumbar spinal burst fractures.

Adolescente con inestabilidad lumbosacra por presencia de quiste hidatídico: reporte de caso

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Miguel Vizcarra

Full Text Available La hidatidosis, causada por el Echinococcus granulosus, afecta a la columna vertebral en 0,5-2% del total de casos, siendo la columna sacra una ubicación rara, típica de personas en edad adulta. Se reporta el caso de un varón de 14 años oriundo de Juliaca (Puno, Perú quien presentó lumbalgia crónica y síndrome de cauda equina. Atendido inicialmente en Juliaca, fue trasladado al Hospital Edgardo Rebagliati Martins (Lima, Perú con el diagnóstico de tumoración sacra. En la resonancia magnética se mostró una tumoración multiquística con lisis del L5 y S1 e inestabilidad. El tratamiento quirúrgico fue una laminectomía L5-S2 y extracción de múltiples quistes de hidátide más estabilización lumbopélvica con tornillos transpediculares. En el posoperatorio se recetó albendazol (15 mg/kg/d por el periodo de seis meses. Se debe considerar al quiste hidatídico dentro del diagnóstico diferencial cuando existan lesiones quísticas en la columna vertebral, sobre todo en regiones endémicas como el Perú.

Tertiary syphilis in the lumbar spine: a case report.

Science.gov (United States)

Bai, Yang; Niu, Feng; Liu, Lidi; Sha, Hui; Wang, Yimei; Zhao, Song

2017-07-24

The incidence of tertiary syphilis involvement in the spinal column with destructive bone lesions is very rare. It is difficult to establish the correct diagnosis from radiographs and histological examination alone. Limited data are available on surgical treatment to tertiary syphilitic spinal lesions. In this article, we report a case of tertiary syphilis in the lumbar spine with osteolytic lesions causing cauda equina compression. A 44-year-old man who suffered with low back pain for 6 months and progressive radiating pain at lower extremity for 1 week. Radiologic findings showed osteolytic lesion and new bone formation in the parts of the bodies of L4 and L5. Serum treponema pallidum hemagglutination (TPHA) test was positive. A surgery of posterior debridement, interbody and posterolateral allograft bone fusion with instrumentation from L3 to S1 was performed. The low back pain and numbness abated after operation. But the follow-up radiographs showed absorption of the bone grafts and failure of instrumentation. A Charcot's arthropathy was formed between L4 and L5. It is challenging to diagnose the tertiary syphilis in the spine. Surgery is a reasonable auxiliary method to antibiotic therapy for patients who suffered with neuropathy. Charcot's arthropathy should be considered as an operative complication.

The incidence of transient neurologic syndrome after spinal anesthesia with lidocaine or bupivacaine: The effects of needle type and surgical position: brief report

Directory of Open Access Journals (Sweden)

Etezadi F

2011-10-01

was in lumbosacral area that radiated to lower limbs and was aggravated in sitting position but in 22 patients pain was in thighs with no radiation. The mean visual analogue scale (VAS for the determination of pain severity was six in all patients. Pain was alleviated by the administration of pethidine. With regard to the needle type, there were no significant differences between the two types of needles (P=0.7."nAccording to the results of this prospective study, it seems that induction of spinal anesthesia by lidocaine combined with surgical lithotomy position increases the risk of TNS. Our study is in concordance with Keld's study.5 Higher neurotoxicity of lidocaine in comparison with bopivacaine may justify the higher incidence of TNS in the lidocaine group. Moreover, natural lumbar lordosis is maintained better in supine position while it is lost in lithothomy position which may lay traction forces on cauda equina or other nerve roots in the lumbar area leading to neuropraxia.

Continuous spinal anesthesia.

Science.gov (United States)

Moore, James M

2009-01-01

Continuous spinal anesthesia (CSA) is an underutilized technique in modern anesthesia practice. Compared with other techniques of neuraxial anesthesia, CSA allows incremental dosing of an intrathecal local anesthetic for an indefinite duration, whereas traditional single-shot spinal anesthesia usually involves larger doses, a finite, unpredictable duration, and greater potential for detrimental hemodynamic effects including hypotension, and epidural anesthesia via a catheter may produce lesser motor block and suboptimal anesthesia in sacral nerve root distributions. This review compares CSA with other anesthetic techniques and also describes the history of CSA, its clinical applications, concerns regarding neurotoxicity, and other pharmacologic implications of its use. CSA has seen a waxing and waning of its popularity in clinical practice since its initial description in 1907. After case reports of cauda equina syndrome were reported with the use of spinal microcatheters for CSA, these microcatheters were withdrawn from clinical practice in the United States but continued to be used in Europe with no further neurologic sequelae. Because only large-bore catheters may be used in the United States, CSA is usually reserved for elderly patients out of concern for the risk of postdural puncture headache in younger patients. However, even in younger patients, sometimes the unique clinical benefits and hemodynamic stability involved in CSA outweigh concerns regarding postdural puncture headache. Clinical scenarios in which CSA may be of particular benefit include patients with severe aortic stenosis undergoing lower extremity surgery and obstetric patients with complex heart disease. CSA is an underutilized technique in modern anesthesia practice. Perhaps more accurately termed fractional spinal anesthesia, CSA involves intermittent dosing of local anesthetic solution via an intrathecal catheter. Where traditional spinal anesthesia involves a single injection with a

Computertomographic examinations of the canine lumbosacral spine

International Nuclear Information System (INIS)

Werner, G.

2000-06-01

The objectives of this study were: 1) documentation of cross-sectional anatomy of the lumbosacral area, 2) to obtain and describe abnormalities and finally 3)to develop a CT technique for the diagnosis of a L7/S1 spondylolisthesis. In a 3 year retrospective study 61 large breed dogs with history of suspected cauda equina-syndrome were examined using flexion-extension radiography and flexion-extension computed tomography. 25 out of 60 dogs were German shepherd dogs, 3 shepherd-cross, 7 mongrels, 4 Rottweilers and 22 other breeds. 27 dogs of the flexion/extension group were also morphometrically examined. CT studies regarding morphology of the lumbosacral joint showed differences between flexed and extended position: The intervertebral foramina enlarged in flexed position, the intervertebral disc, segmental spinal nerves and contrast enhanced blood vessels were more easily to evaluate. In flexion the lumbosacral foramen was 'open' in all cases, while it was 'closed' in most of the extension slices. The cranial articular processes of the sacrum appeared earlier in extension, they seemed to 'slip' beneath the caudal articular processes of the last lumbar vertebra, the articular surfaces got incongruent, and therefore the intervertebral foramina were narrowed. The most common pathologic findings were disk protrusion (28 dogs) and spondylosis (24 dogs). Rare diagnoses were neoplasia (1 case), transitional vertebra (1 case), shortened L7 (2 cases) and osteochondrosis dissecans of the L7 or sacral endplate (5 cases). Morphometrical examinations showed that the intervertebral foramina enlarged in flexed positions, not only in length (craniocaudal dimension) but also in their dorsoventral diameter. There was no difference in the dorsoventral diameter of the spinal canal between flexion and extension CT. This study showed that computed tomography is superior to common ways of imaging of the lumbosacral spine like radiography or myelography. It was possible to identify

Tibial nerve somatosensory evoked potentials in dogs with degenerative lumbosacral stenosis.

Science.gov (United States)

Meij, Björn P; Suwankong, Niyada; van den Brom, Walter E; Venker-van Haagen, Anjop J; Hazewinkel, Herman A W

2006-02-01

To determine somatosensory evoked potentials (SEPs) in dogs with degenerative lumbosacral stenosis (DLS) and in healthy dogs. Clinical and experimental study. Dogs with DLS (n = 21) and 11 clinically normal dogs, age, and weight matched. Under anesthesia, the tibial nerve was stimulated at the caudolateral aspect of the stifle, and lumbar SEP (LSEP) were recorded percutaneously from S1 to T13 at each interspinous space. Cortical SEP (CSEP) were recorded from the scalp. LSEP were identified as the N1-P1 (latency 3-6 ms) and N2-P2 (latency 7-13 ms) wave complexes in the recordings of dogs with DLS and control dogs. Latency of N1-P1 increased and that of N2-P2 decreased as the active recording electrode was moved cranially from S1 to T13. Compared with controls, latencies were significantly delayed in DLS dogs: .8 ms for N1-P1 and 1.7 ms for the N2-P2 complex. CSEP were not different between groups. Surface needle recording of tibial nerve SEP can be used to monitor somatosensory nerve function of pelvic limbs in dogs. In dogs with DLS, the latency of LSEP, but not of CSEP, is prolonged compared with normal dogs. In dogs with lumbosacral pain from DLS, the cauda equina compression is sufficient to affect LSEP at the lumbar level.

Complete Cranial Iliac Osteotomy to Approach the Lumbosacral Foramen

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Barbara Dyall

2017-05-01

Full Text Available An approach using a complete cranial iliac osteotomy (CCIO to access the lumbosacral (LS foramen in dogs from lateral was developed using cadavers and applied in a clinical patient with degenerative lumbosacral stenosis (DLSS. The foraminal enlargement in the cadavers and the patient was documented on postoperative CT scans. The preoperative CT scan of the patient showed moderate cranial telescoping of the sacral roof and a moderate central disk protrusion, leading to moderate to severe compression of the cauda equina. In addition, there was lateral spondylosis with consequential stenosis of the right LS foramen. The right L7 nerve had lost its fat attenuation and appeared thickened. After a routine L7S1 dorsal laminectomy with a partial discectomy, a CCIO was performed, providing good access to the LS foramen and the adhesions around the proximal L7 nerve caudoventral to the foramen. The osteotomy was stabilized with a locking plate and a cerclage wire. The dog recovered well from the procedures and after 36 h, the dog walked normally and was discharged from the hospital. Eight and 16 weeks later, the signs of the DLSS had markedly improved. From these data, it can be concluded that the CCIO is a useful approach to the LS foramen and intervertebral disk in selected patients with DLSS, giving good access to the structures around the LS foramen.

Rare case of primary spinal ependymomatosis occurring in a 26-year-old man: a case report

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Kaliaperumal Chandrasekaran

2009-10-01

Full Text Available Abstract Introduction The authors report a rare case of primary spinal ependymomatosis in a young adult man. Multiple primary ependymomatous lesions were seen on magnetic resonance imaging and no anaplasia was identified on the surgical-pathological analysis. The aetio-pathological mechanism and surgical significance of this rare occurrence is discussed. Case presentation A 26-year-old man of Polish origin presented with a ten-day history of pain in the left leg and lower back. This was followed by difficulty in urinating and a decrease in sensation in both legs. Examination revealed pyramidal signs and mild weakness in both lower limbs. He had early sphincter involvement requiring catheterization. Magnetic resonance imaging of the brain was normal. However, that of the spinal cord revealed multiple intradural spinal lesions, both intra- and extramedullary, extending from the cervical cord down to the cauda equina roots. T12-L1 laminectomy was performed. Multiple intradural, extra- and intra-medullary tumors were seen. After the operation, the patient deteriorated with a sensory level at T4. Post-operative cranio-spinal radiotherapy was administered but there was no clinical improvement in the lower limbs. Conclusion Primary spinal ependymomatosis is a rare phenomenon involving multiple spinal segments in the absence of a primary intracranial tumor. Radical excision is unrealistic in this condition. Biopsy followed by radiotherapy is the preferred method of treatment.

Intervertebral Disc Characteristic on Progressive Neurological Deficit

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Farid Yudoyono

2017-09-01

Full Text Available Objective: To examine the intervertebral disc characteristic on magnetic resonance imaging (MRI in lumbar herniated disc (LHD patients with progressive neurological deficit. Methods: Patients were collected retrospectively from Dr. Hasan Sadikin General Hospital Database from 2011–2013 with LHD, had neurological deficit such as radiculopathy and cauda equine syndrome for less than four weeks with a positive sign confirmed by neurological examination and confirmatory with MRI examination. Results: A total of 14 patients with lumbar herniated disc disease (10 males, 4 females suffered from progressive neurological deficit with an average age of (52.07±10.9 years old. Early disc height was 9.38±0.5 mm and progressive neurological deficit state disc height was 4.03±0.53 mm, which were significantly different statisticaly (p<0.01. Symptoms of radiculopathy were seen in 11 patients and cauda equine syndrome in three patients. Modic changes grade 1 was found in five patients, grade 2 in eight patients,grade 3 in one patient, Pfirmman grade 2 in eleven patients and grade 3 in three patients. Thecal sac compression 1/3 compression was seen in four patients and 2/3 compression in ten patients. Conclusions: Neurosurgeon should raise concerns on the characteristic changes of intervertebral disc in magnetic resonance imaging examination to avoid further neural injury in lumbar herniated disc patients.

First report of systemic toxoplasmosis in a New Zealand sea lion (Phocarctos hookeri).

Science.gov (United States)

Roe, W D; Michael, S; Fyfe, J; Burrows, E; Hunter, S A; Howe, L

2017-01-01

A 1-year-old female New Zealand sea lion (Phocarctos hookeri) was intermittently observed in the Otago region of New Zealand over an 11-month period, always dragging her hind flippers. In December 2012 the sea lion was found dead, after a period of several days being observed to be harassed by male sea lions. At gross postmortem examination the sea lion was in moderate body condition with signs of recent bite wounds and bruising. The lungs were dark and poorly inflated. Histological findings included meningoencephalomyelitis, radiculomyelitis of the cauda equina, myocarditis and myositis. Toxoplasmosis gondii organisms were detected histologically and following immunohistochemistry in the brain, spinal cord, spinal nerves and pelvic muscles. Nested PCR analysis and sequencing confirmed the presence of T. gondii DNA in uterine and lung tissue. A variant type II T. gondii genotype was identified using multilocus PCR-restriction fragment length polymorphism analysis. Systemic toxoplasmosis. Infection with T. gondii involving the spinal cord and nerves was the likely cause of the paresis observed in this sea lion before death. Ultimately, death was attributed to crushing and asphyxiation by a male sea lion, presumably predisposed by impaired mobility. Diagnosis of toxoplasmosis in a New Zealand sea lion highlights the possibility that this disease could play a role in morbidity and mortality in this endangered species, particularly in the recently established mainland populations that are close to feline sources of T. gondii oocysts.

Diagnóstico da esquistossomose medular: contribuição da ressonância magnética e eletroneuromiografia

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Peregrino Alberto Jorge Pereira

2002-01-01

Full Text Available OBJETIVO: Analisar os resultados obtidos pela ressonância magnética (RM e eletroneuromiografia (ENMG em pacientes com diagnóstico de esquistossomose medular (EM. MÉTODO: Foram analisadas 18 RM da coluna vertebral tóraco-lombar e 24 ENMG dos membros superiores e inferiores de pacientes com diagnóstico definido ou altamente provável de EM nas suas formas clínicas mielorradiculítica e mielítica. RESULTADOS: Entre as 18 RM realizadas, 16 (88,8%, mostraram alterações caracterizadas por imagens hipointensas em aquisições pesadas em T1, hiperintensas em T2, com captação heterogênea do contraste gadolínico e/ou realce das meninges e cauda equina. Entre as 24 ENMG, 23 (95,8% mostraram quadro de multirradiculopatia bilateral das raízes nervosas L2, L3, L4, L5, S1, S2, assimétrico em 10 casos (41,6%. CONCLUSÃO: A RM e a ENM demonstraram ser exames úteis para o diagnóstico da EM ao revelarem anormalidades que se repetiram sob um determinado padrão em 88,8% e 95,8% dos casos, respectivamente. Apesar de não terem especificidade para a EM, estes procedimentos devem ser realizados rotineiramente com o objetivo de fortalecer o diagnóstico presuntivo desta doença.

[Usefullness of intrasacral fixation in an extremely unstable lumbosacral spine].

Science.gov (United States)

Nishiura, Tsukasa; Nishiguchi, Mitsuhisa; Kusaka, Noboru; Takayama, Kazuhiro; Maeda, Yasuhiko; Ogihara, Kotaro; Nakagawa, Minoru

2007-04-01

Intrasacral fixation technique devised by Jackson is said to provide rigid lumbosacral fixation. We treated 3 cases of lumbosacral lesions using this technique in which lumbosacral segment had become extremely unstable during surgical intervention adding to the effect of original lesions. In all cases, surgeries were performed in 2 stages, intrasacral fixation and anterior stabilization. Case 1: A 52-year-old male was diagnosed fungal discitis and spondylitis at L4 and L5. X-ray showed destruction of the vertebral bodies. L2, L3 and sacrum were fixed posteriorly using the intrasacral fixation technique. One week after the first operation, L4 and L5 vertebral bodies were replaced by long fibula grafts through the extraperitoneal approach. Case 2: A 25-year-old female with cauda equina syndrome and abnormal body form diagnosed as having spondyloptosis in which the entire vertebral body of L5 had descended below the endplate of S1. MR imaging revealed marked canal stenosis at the S1 level. In the first surgery, L5 vertebral body was resected through the transperitoneal approach. After 1 week of bed rest, posterior segments of L5 were resected, L4 was affixed to the sacrum and anterior stabilization was achieved with 2 mesh cages and lumbosacral spine was fixed using the intrasacral fixation technique. Case 3: A 64-year-old female was diagnosed as having pyogenic discitis and osteomyelitis at the L5-S1 level. In spite of successful medical treatment for infection, low back pain continued. Radiologically, L5 vertebral body was shown to have collapsed and slipped anteriorly over the sacrum. L3, L4 and sacrum were fixed by intrasacral fixation. One week after the first operation, the L5/S1 disc and the suppurtive vertebral bodies were resected through the extraperitoneal approach and anterior stabilization was performed with iliac bone grafts. At follow-up for a minimum of 6 months, initial fixation was maintained in all 3 cases and bony fusion was obtained. The

CT of the canine lumbosacral spine in extension - flexion rotation; part I: bony window

International Nuclear Information System (INIS)

Henninger, W.; Werner, G.

2002-01-01

The canine lumbosacral spine is examined radiographically in extended and flexed lateral position as well as ventrodorsally. Superimposition of bones hinders exact evaluation of the lumbosacral intervertebral foramen in case of cauda equina syndrome, especially when degenerative changes overlap. CT or MRI are more and more indicated to get reliable findings because myelography is not always of diagnostic value. For this study twelve dogs (7 German Shepherd dogs, 4 Cross-breds, and 1 Rottweiler) of different age and sex were taken which had been referred for CT examination of the lumbosacral area. Plain radiographs did not show abnormalities. The anaesthetized dogs were positioned in dorsal recumbency with the legs firstly extended and secondly flexed according to flexion-extension radiography. Slice thickness was 2 mm, the CT images were evaluated in both bony and soft tissue windows. Bony window easily showed vertebral bodies, vertebral canal, pedicles, vertebral laminae, and articular processes of L7 and S1. Median height of the vertebral canal did not change during extension or flexion at the level of L7 and the sacrum. Height and width of the intervertebral foramen and width of the interarcual foramen changed markedly from extension to flexion. Lateral recessus of the vertebral canal always could be observed as ventrolateral widening. In sagittal CT scans of the lumbosacral specimen of a normal German Shepherd dog cranial articular processes of the sacrum were detected to be responsible for maximum height or width of the intervertebral foramen. Evolving from the lateral recessus the intervertebral foramen was initially oval-shaped and got rounded and narrowed by the cranial articular process of the sacrum. Position and shape of the cranial articular processes of the sacrum were evaluated. Surface of the cranial articular processes of S1 were found even with articular spaces congruent, but some also appeared slightly concave or convex where incongruity of the

Understanding Bartter syndrome and Gitelman syndrome.

Science.gov (United States)

Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Priapism associated with lumbar stenosis in a dog.

Science.gov (United States)

Payan-Carreira, R; Colaço, B; Rocha, C; Albuquerque, C; Luis, M; Abreu, H; Pires, M A

2013-08-01

Priapism, a persistent long-lasting involuntary erection of the penis, is uncommon in dogs. In this report, the case of a 13-year-old male Pointer, referred to our services due to persistent exposition of the penis, is described. This condition was consecutive to an intermittent priapism situation lasting for several days, which has been initially attributed to the inflammation and haematoma associated with a perianal bite. The owners became unable to retract the penis into the prepuce. At presentation, the dog was anorectic for 48 h, intolerant to manipulation, and showed poor body condition and unsteady locomotion. During physical evaluation, a marked engorgement of the local vessels in the prepuce and penis was found. An abdominal X-ray was asked under the suspicion of a neurogenic origin for the clinical situation, which showed evidences of spondylosis. After discussion of the clinical condition, the owners asked for euthanasia. The necropsy confirmed the engorgement of the regional vessels deriving from the pudendal arteries and blood accumulation within all the cavernous spaces, accompanied by congestion and thrombosis within the erectile structures of the penis. No significant changes were observed in the pelvic organs that could be at the origin of priapism. The lumbar-sacral spinal regions were carefully inspected and evidenced signs of L7-S1 stenosis due to spondylosis. The case presented herein is a rare situation of priapism of neurogenic origin in a dog. Necropsy findings suggest that it was consecutive to cauda equina compression due to lumbar spinal stenosis. © 2013 Blackwell Verlag GmbH.

Sonographic findings of normal newborn spinal cord

International Nuclear Information System (INIS)

Park, Chan Sup; Kim, Dong Gyu

1988-01-01

The authors performed spinal cord ultrasonography of 21 healthy newborn infants in Gyeongsang National University Hospital. Normal spinal cord revealed low echogenecity at that of cerebrospinal fluid and was demarcated by intense reflections from its dorsal and ventral surfaces. The central canal was routinely seen as a thin linear reflection in the center of the cord. The nerve roots making up the cauda equina formed a poorly defined collection of intense linear echoes extending from the conus. On real time image, the normal spinal cord exhibited rather slow and rhythmical anteroposterior movement within the subarachnoid fluid. A distinct and rapid vascular pulsation of the spinal cord was usually recognizable. The approximate level of vertebral bodies was determined as follows; most ventrally located vertebral body was thought to be L5 and S1 was seen slightly posterior to the L5 directed inferoposteriorly. According to the above criteria terminal portions of spinal cord were seen around the L2 body in 5 MHz and pointed termination of conus medullaris was clearly seen at L2-3 junction and in upper body of L3 by 7.5 MHz. So it would be better to examine by 5 MHz for spatial orientation and then by 7.5 MHz for more accurate examination. High-resolution, real-time ultrasonography was a safe, rapid screening technique for evaluation of the spinal cord in infants. Additional applications of spinal sonography may be possible in the evaluation of neonatal syringohydromyelia and meningocele as well as intraspinal cyst localization for possible percutaneous puncture by ultrasound guidance

Sci-Thur AM: Planning - 04: Evaluation of the fluence complexity, solution quality, and run efficiency produced by five fluence parameterizations implemented in PARETO multiobjective radiotherapy treatment planning software.

Science.gov (United States)

Champion, H; Fiege, J; McCurdy, B; Potrebko, P; Cull, A

2012-07-01

PARETO (Pareto-Aware Radiotherapy Evolutionary Treatment Optimization) is a novel multiobjective treatment planning system that performs beam orientation and fluence optimization simultaneously using an advanced evolutionary algorithm. In order to reduce the number of parameters involved in this enormous search space, we present several methods for modeling the beam fluence. The parameterizations are compared using innovative tools that evaluate fluence complexity, solution quality, and run efficiency. A PARETO run is performed using the basic weight (BW), linear gradient (LG), cosine transform (CT), beam group (BG), and isodose-projection (IP) methods for applying fluence modulation over the projection of the Planning Target Volume in the beam's-eye-view plane. The solutions of each run are non-dominated with respect to other trial solutions encountered during the run. However, to compare the solution quality of independent runs, each run competes against every other run in a round robin fashion. Score is assigned based on the fraction of solutions that survive when a tournament selection operator is applied to the solutions of the two competitors. To compare fluence complexity, a modulation index, fractal dimension, and image gradient entropy are calculated for the fluence maps of each optimal plan. We have found that the LG method results in superior solution quality for a spine phantom, lung patient, and cauda equina patient. The BG method produces solutions with the highest degree of fluence complexity. Most methods result in comparable run times. The LG method produces superior solution quality using a moderate degree of fluence modulation. © 2012 American Association of Physicists in Medicine.

[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

Science.gov (United States)

Berio, A; Trucchi, R; Meliota, M

1992-05-01

The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

Marfan syndrome masked by Down syndrome?

NARCIS (Netherlands)

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

2009-01-01

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

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

Science.gov (United States)

Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

2015-06-01

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

Hamartomatous polyposis syndromes

DEFF Research Database (Denmark)

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

2014-01-01

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

Situação epidemiológica da anemia infecciosa equina em equídeos de tração do Distrito Federal

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Daniella D.A. Moraes

Full Text Available RESUMO: A anemia infecciosa equina (AIE é uma doença causada por um lentivirus que possui distribuição mundial. Essa enfermidade é um entrave ao desenvolvimento da equinocultura no Brasil devido à obrigatoriedade de eutanásia dos animais positivos. Este trabalho teve como objetivo estimar a prevalência de AIE em equídeos de tração no Distrito Federal, assim como identificar fatores de risco associados à doença. Foram sorteados aleatoriamente 350 proprietários (Unidades Primárias de Amostragem- UPA e foram amostrados todos os equídeos (Unidades secundárias de Amostragem de cada proprietário sorteado, totalizando 496 animais. As amostras sanguíneas foram analisadas no Lanagro/MG por meio da técnica de imunodifusão em ágar gel (IDGA. No momento da coleta de sangue, também foi aplicado um questionário epidemiológico para a análise de possíveis fatores de risco. A prevalência de AIE nas UPA foi estimada em 2,29%, (IC 95%: 1,01-4,2% e nos animais foi de 1,81% (IC 95%: 0,55-3,07%. A prevalência foi significativamente maior em muares do que em equinos. Não foi possível comprovar a presença de nenhum outro fator de risco associado à doença. Este estudo demonstra que a prevalência da AIE em equídeos de tração é baixa no Distrito Federal, porém mais alta do que os dados de vigilância de rotina sugerem, o que justifica a eutanásia dos equídeos reagentes, com a finalidade de promover a erradicação da enfermidade. Ratifica-se a importância da realização de exames periódicos nesses animais e a manutenção das atividades de vigilância.

Seckel syndrome: an overdiagnosed syndrome.

OpenAIRE

Thompson, E; Pembrey, M

1985-01-01

Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

Superior Mesenteric Artery Syndrome or Wilkie Syndrome

International Nuclear Information System (INIS)

Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

2009-01-01

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

Beals Syndrome

Science.gov (United States)

... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

The expression of the new epididymal luminal protein of PDZ domain containing 1 is decreased in asthenozoospermia

Directory of Open Access Journals (Sweden)

A-Juan Liang

2018-01-01

Full Text Available Spermatozoa are not mature until they transit the epididymis where they acquire motility and the ability to fertilize an egg through sequential modifications. The epididymis has three functional regions, caput, corpus, and cauda, and the luminal proteins of the epididymis play important roles in the above modifications. However, the proteins with differential enrichment between the caput and cauda are still largely unknown. To reveal the functions of the caput and cauda during sperm maturation, luminal proteins from caput and cauda of mice were analyzed by isobaric tag for relative and absolute quantitation (iTRAQ. Overall, 128 differentially enriched proteins were found, of which 46 were caput enriched and 82 were cauda enriched. Bioinformatic analysis showed that lipid metabolism was active in the caput; while anion- and cation-binding activity and phosphorus and organophosphate metabolism were active in the cauda. A new epididymal luminal protein, the caput-enriched PDZ domain containing 1 (Pdzk1, also named Na+/H+ exchange regulatory cofactor 3 (NHERF3, which plays a critical role in cholesterol metabolism and carnitine transport, was found in the lipid metabolism. Western blotting and immunofluorescence analyses showed that Pdzk1 was expressed in the epididymis but not in the testis, and localized at the middle piece of the sperm tail. Pdzk1 protein level was also reduced in the spermatozoa in case of asthenozoospermic patients compared with that in normozoospermic men, suggesting that Pdzk1 may participate in sperm maturation regulation and may be associated with male infertility. These results may provide new insights into the mechanisms of sperm maturation and male infertility.

Serotonin syndrome

Science.gov (United States)

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

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

Science.gov (United States)

Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

2009-02-01

Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

Duane Syndrome

Science.gov (United States)

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

Wells syndrome and its relationship to Churg-Strauss syndrome.

Science.gov (United States)

Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

2013-08-01

  Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

Goldenhar Syndrome in Association with Duane Syndrome

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U D Shrestha

2012-03-01

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

Diagnóstico diferencial de trombose aortoilíaca e mieloencefalite protozoária equina: relato de caso Differential diagnosis between aorto-iliac thrombosis and equine protozoal myeloencephalitis: case report

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P.B. Escodro

2010-10-01

Full Text Available Relata-se o caso de uma égua de atividade de polo, que apresentou inicialmente claudicação leve no membro posterior esquerdo, a qual evoluiu para ataxia e atrofia da musculatura glútea do lado esquerdo, com diagnóstico de trombose aortoilíaca (TAI. A paciente foi tratada com suspeita de mieloencefalite protozoária equina, devido à semelhança dos sinais clínicos com essa doença, porém o líquido cefalorraquidiano apresentou-se negativo para anticorpos anti-Sarcocystis neurona. A palpação transretal indicou uma massa na bifurcação aortoilíaca esquerda. Na avaliação ultrassonográfica, visualizou-se imagem hiperecoica aderida ao endotélio vascular, sugerindo TAI atingindo a estenose de 70% da luz arterial.The case of a mare used for polo is reported. The animal showed clinical signs of soft lameness of the hindlimb, evolving to ataxia and gluteal muscle atrophy, with aorto-iliac thrombosis (AIT. The patient was treated with the suspect of equine protozoal myeloencephalitis (EPM, due to the resemblance of clinical signs. Cerebrospinal fluid analysis was negative for antibodies against Sarcocystis neurona. The transrectal examination indicated a mass in the left aorto-iliac bifurcation. In the ultrasonographic evaluation, a hyperechoic image adhered to the vascular endothelium was observed, suggesting (AIT, occupying 70% of arterial lumen. The present article has the objective of pointing out the importance of the differential diagnosis between AIT and EPM in horses with ataxia in hindlimbs and muscular atrophy.

Experimental Infection of Cattle With a Novel Prion Derived From Atypical H-Type Bovine Spongiform Encephalopathy.

Science.gov (United States)

Okada, Hiroyuki; Masujin, Kentaro; Miyazawa, Kohtaro; Iwamaru, Yoshihumi; Imamura, Morikazu; Matsuura, Yuichi; Arai, Shozo; Fukuda, Shigeo; Murayama, Yuichi; Yokoyama, Takashi

2017-11-01

H-type bovine spongiform encephalopathy (H-BSE) is an atypical form of BSE in cattle. During passaging of H-BSE in transgenic bovinized (TgBoPrP) mice, a novel phenotype of BSE, termed BSE-SW emerged and was characterized by a short incubation time and host weight loss. To investigate the biological and biochemical properties of the BSE-SW prion, a transmission study was conducted in cattle, which were inoculated intracerebrally with brain homogenate from BSE-SW-infected TgBoPrP mice. The disease incubation period was approximately 15 months. The animals showed characteristic neurological signs of dullness, and severe spongiform changes and a widespread, uniform distribution of disease-associated prion protein (PrP Sc ) were observed throughout the brain of infected cattle. Immunohistochemical PrP Sc staining of the brain revealed the presence of intraglial accumulations and plaque-like deposits. No remarkable differences were identified in vacuolar lesion scores, topographical distribution patterns, and staining types of PrP Sc in the brains of BSE-SW- vs H-BSE-infected cattle. PrP Sc deposition was detected in the ganglia, vagus nerve, spinal nerve, cauda equina, adrenal medulla, and ocular muscle. Western blot analysis revealed that the specific biochemical properties of the BSE-SW prion, with an additional 10- to 12-kDa fragment, were well maintained after transmission. These findings indicated that the BSE-SW prion has biochemical properties distinct from those of H-BSE in cattle, although clinical and pathologic features of BSW-SW in cattle are indistinguishable from those of H-BSE. The results suggest that the 2 infectious agents, BSE-SW and H-BSE, are closely related strains.

Can MRI Localise the Cause of Chronic Low Backache in Lumbar Spondylosis and Help Guide Specific Management?

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Joish Upendra Kumar

2017-10-01

Full Text Available Introduction: MRI is a primary imaging modality in assessing chronic low backache. Many of the findings identified on MRI may not be symptomatic. Nerve root compressions, compression of cauda equina, posterior annular tear, facetal arthropathy are more likely to be symptomatic. Management of each of these pathologies vary. It is essential to identify the pathologies that can cause pain and symptoms in lumbar spondylosis. Aim: To identify the specific finding/pathology on MRI that corresponds to the clinical presentation of the patient with lumbar spondylosis. Materials and Methods: The study was done between May and December 2016 and included 100 patients who were referred for MRI of lumbosacral spine with history of debilitating backache for more than 2 weeks. After ruling out other causes, clinical evaluation of patients was done to localize leve; and type of pain. T1, T2 weighted and STIR imaging of lumbo-sacral spine was done. The images were studied to localize the pathology which most likely caused the pattern of pain the patient experienced. Results: The study included 55 ladies and 45 men. 42 people had radiculopathy. In 86% of cases, MRI helped in localizing the exact pathology responsible for the pattern of pain the patients experienced. Nerve compressions were seen in 86% of patients with radiculopathy. Among the people without radiculopathy, the cause for pain could be localized in 86%. The most common cause of pain identified was horizontal posterior annular fissure (40%. Conclusion: In a significant number of patients with chronic low backache, we can identify the specific pathology that corroborates with the clinical symptomatology of the patient. This aids in guiding specific management to provide symptomatic relief.

A randomized, placebo-controlled trial of repetitive spinal magnetic stimulation in lumbosacral spondylotic pain.

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Lo, Yew L; Fook-Chong, Stephanie; Huerto, Antonio P; George, Jane M

2011-07-01

Lumbar spondylosis is a degenerative disorder of the spine, whereby pain is a prominent feature that poses therapeutic challenges even after surgical intervention. There are no randomized, placebo-controlled studies utilizing repetitive spinal magnetic stimulation (SMS) in pain associated with lumbar spondylosis. In this study, we utilize SMS technique for patients with this condition in a pilot clinical trial. We randomized 20 patients into SMS treatment or placebo arms. All patients must have clinical and radiological evidence of lumbar spondylosis. Patients should present with pain in the lumbar region, localized or radiating down the lower limbs in a radicular distribution. SMS was delivered with a Medtronic R30 repetitive magnetic stimulator (Medtronic Corporation, Skovlunde, Denmark) connected to a C-B60 figure of eight coil capable of delivering a maximum output of 2 Tesla per pulse. The coil measured 90 mm in each wing and was centered over the surface landmark corresponding to the cauda equina region. The coil was placed flat over the back with the handle pointing cranially. Each patient on active treatment received 200 trains of five pulses delivered at 10 Hz, at an interval of 5 seconds between each train. "Sham" SMS was delivered with the coil angled vertically and one of the wing edges in contact with the stimulation point. All patients tolerated the procedure well and no side effects of SMS were reported. In the treatment arm, SMS had resulted in significant pain reduction immediately and at Day 4 after treatment (P lumbar spondylosis in a randomized, double-blind, placebo-controlled setting. The novel findings support the potential of this technique for future studies pertaining to neuropathic pain. Wiley Periodicals, Inc.

Plasticity of Select Primary Afferent Projections to the Dorsal Horn after a Lumbosacral Ventral Root Avulsion Injury and Root Replantation in Rats

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Allison J. Bigbee

2017-07-01

Full Text Available Injuries to the conus medullaris and cauda equina portions of the spinal cord result in neurological impairments, including paralysis, autonomic dysfunction, and pain. In experimental studies, earlier investigations have shown that a lumbosacral ventral root avulsion (VRA injury results in allodynia, which may be ameliorated by surgical replantation of the avulsed ventral roots. Here, we investigated the long-term effects of an L6 + S1 VRA injury on the plasticity of three populations of afferent projections to the dorsal horn in rats. At 8 weeks after a unilateral L6 + S1 VRA injury, quantitative morphological studies of the adjacent L5 dorsal horn showed reduced immunoreactivity (IR for the vesicular glutamate transporter, VGLUT1 and isolectin B4 (IB4 binding, whereas IR for calcitonin gene-related peptide (CGRP was unchanged. The IR for VGLUT1 and CGRP as well as IB4 binding was at control levels in the L5 dorsal horn at 8 weeks following an acute surgical replantation of the avulsed L6 + S1 ventral roots. Quantitative morphological studies of the L5 dorsal root ganglia (DRGs showed unchanged neuronal numbers for both the VRA and replanted series compared to shams. The portions of L5 DRG neurons expressing IR for VGLUT1 and CGRP, and IB4 binding were also the same between the VRA, replanted, and sham-operated groups. We conclude that the L5 dorsal horn shows selective plasticity for VGLUT1 and IB4 primary afferent projections after an L6 + S1 VRA injury and surgical repair.

Clinical applicability of biologically effective dose calculation for spinal cord in fractionated spine stereotactic body radiation therapy

International Nuclear Information System (INIS)

Lee, Seung Heon; Lee, Kyu Chan; Choi, Jinho; Ahn, So Hyun; Lee, Seok Ho; Sung, Ki Hoon; Kil, Se Hee

2015-01-01

The aim of the study was to investigate whether biologically effective dose (BED) based on linear-quadratic model can be used to estimate spinal cord tolerance dose in spine stereotactic body radiation therapy (SBRT) delivered in 4 or more fractions. Sixty-three metastatic spinal lesions in 47 patients were retrospectively evaluated. The most frequently prescribed dose was 36 Gy in 4 fractions. In planning, we tried to limit the maximum dose to the spinal cord or cauda equina less than 50% of prescription or 45 Gy 2/2 . BED was calculated using maximum point dose of spinal cord. Maximum spinal cord dose per fraction ranged from 2.6 to 6.0 Gy (median 4.3 Gy). Except 4 patients with 52.7, 56.4, 62.4, and 67.9 Gy 2/2 , equivalent total dose in 2-Gy fraction of the patients was not more than 50 Gy 2/2 (12.1–67.9, median 32.0). The ratio of maximum spinal cord dose to prescription dose increased up to 82.2% of prescription dose as epidural spinal cord compression grade increased. No patient developed grade 2 or higher radiation-induced spinal cord toxicity during follow-up period of 0.5 to 53.9 months. In fractionated spine SBRT, BED can be used to estimate spinal cord tolerance dose, provided that the dose per fraction to the spinal cord is moderate, e.g. < 6.0 Gy. It appears that a maximum dose of up to 45–50 Gy 2/2 to the spinal cord is tolerable in 4 or more fractionation regimen

Local control and survival in spinal cord compression from lymphoma and myeloma

International Nuclear Information System (INIS)

Wallington, M.; Mendis, S.; Premawardhana, U.; Sanders, P.; Shahsavar-Haghighi, K.

1997-01-01

Background: Between 1979 and 1989, 48 cases of extradural spinal cord and cauda equina compression in patients with lymphoma (24) and myeloma (24) received local radiation therapy for control of cord compression. Twenty five (52%) of the cases were treated by surgical decompression prior to irradiation. Thirty five (73%) of the cases received chemotherapy following the diagnosis of spinal cord compression. Post-treatment outcome was assessed at a minimum follow-up of 24 months to determine the significant clinical and treatment factors following irradiation. Results: Seventeen (71%) of the lymphoma and 15 (63%) of the myeloma patients achieved local control, here defined as improvement to, or maintenance of ambulation with minimal or no assistance for 3 months from the start of radiotherapy. At a median follow-up of 30 (2-98) for the lymphoma and 10 (1-87) months for the myeloma patients, the results showed that survival following local radiation therapy for cord compression was independently influenced by the underlying disease type in favour of lymphoma compared to myeloma (P<0.01). The median duration of local control and survival figures were 23 and 48 months for the lymphomas compared to 4.5 and 10 months for the myeloma cases. Survival was also independently influenced by preservation of sphincter function at initial presentation (P<0.02) and the achievement of local control following treatment (P<0.01). Discussion: We conclude that while disease type independently impacts on outcome following treatment of spinal cord compression in lymphoma and myeloma, within both of these disease type the achievement of local control of spinal cord compression is an important management priority, for without local control survival may be adversely affected

Fanconi syndrome

Science.gov (United States)

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

OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

Institute of Scientific and Technical Information of China (English)

无

1991-01-01

Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

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Tullu M

2000-04-01

Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

Energy Technology Data Exchange (ETDEWEB)

Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. [Tel Aviv Univ. (Israel)]|[Hebrew Univ., Jerusalem (Israel)

1994-09-01

The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

Science.gov (United States)

Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

2014-06-01

Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

NARCIS (Netherlands)

de Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.

2016-01-01

Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

Science.gov (United States)

Flynn, Maureen A; Milunsky, Jeff M

2006-06-15

Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. Copyright 2006 Wiley-Liss, Inc.

West syndrome in a patient with Schinzel-Giedion syndrome.

Science.gov (United States)

Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

2015-06-01

Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

Cushing syndrome

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

Russell-Silver syndrome

Science.gov (United States)

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

[Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

Science.gov (United States)

Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

2014-01-01

Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

Sistema de análisis de movimiento para caballos basado en videometría

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Yolanda Torres-Pérez

2016-11-01

Full Text Available En este trabajo se describe el desarrollo y el uso de un nuevo sistema de análisis de movimiento para investigar y evaluar la cinemática 2D de la marcha equina, el cual utiliza un software de captura de movimiento, unos cálculos matemáticos y una interfaz gráfica diseñada para evaluar el modelo locomotor de los caballos. A partir de secuencias de vídeo de la marcha equina, registradas por cámaras de alta velocidad, se obtienen las coordenadas (x, y a través de software TEMA 3.0; luego, se calculan variables cinemáticas, tales como longitud de los segmentos corporales, ángulos de las articulaciones, trayectorias de cada marcador y curvas de flexión-extensión de las articulaciones, y con la interfaz gráfica desarrollada en el software Mathematica se genera una simulación 2D del movimiento de los caballos. Esta herramienta tiene como objetivo ayudar a investigar y evaluar la marcha equina y analizarla de forma objetiva (cualitativa y cuantitativa, aunque se puede utilizar en diferentes campos de análisis de la marcha. Se elimina la subjetividad del diagnóstico realizado por los veterinarios y permite hacer diferentes análisis, evaluaciones, investigaciones y el seguimiento de la marcha equina.

LEOPARD syndrome

Science.gov (United States)

Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

Dravets syndrom

DEFF Research Database (Denmark)

Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

2010-01-01

Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

Science.gov (United States)

Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

2014-07-01

To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

Aarskog syndrome

Science.gov (United States)

Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

Science.gov (United States)

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

OpenAIRE

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Cushing's Syndrome

OpenAIRE

宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

2003-01-01

Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

Polycystic ovary syndrome and metabolic syndrome.

Science.gov (United States)

Ali, Aus Tariq

2015-08-01

Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

Tourette syndrome

Science.gov (United States)

Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

Metabolic syndrome in acute coronary syndrome

International Nuclear Information System (INIS)

Bhalli, M.A.; Aamir, M.; Mustafa, G.

2011-01-01

Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

Metabolic syndrome in acute coronary syndrome

Energy Technology Data Exchange (ETDEWEB)

Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

2011-06-15

Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

Exogenous Cushing syndrome

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Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

Targets to treat metabolic syndrome in polycystic ovary syndrome.

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Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

2015-01-01

Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics.

Targets to treat metabolic syndrome in polycystic ovary syndrome

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Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

2016-01-01

Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

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Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Milk-alkali syndrome

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

Marfan Syndrome

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

Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

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Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

Loeys-Dietz Syndrome

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... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

Pre-Menstrual Syndrome in Women with Down Syndrome

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Mason, Linda; Cunningham, Cliff

2009-01-01

Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

Williams syndrome

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Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

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Azadeh Mashayekhi

2016-01-01

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

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

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

2016-06-01

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

Aicardi Syndrome

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... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

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Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

2008-04-01

We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

Down Syndrome

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... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

TAFRO Syndrome.

Science.gov (United States)

Igawa, Takuro; Sato, Yasuharu

2018-02-01

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

Development and characteristics of children with Usher syndrome and CHARGE syndrome.

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Dammeyer, Jesper

2012-09-01

Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

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Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

2017-01-01

An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

Wolf-Hirschhorn (4p-) syndrome with West syndrome.

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Motoi, Hirotaka; Okanishi, Tohru; Kanai, Sotaro; Yokota, Takuya; Yamazoe, Tomohiro; Nishimura, Mitsuyo; Fujimoto, Ayataka; Yamamoto, Takamichi; Enoki, Hideo

2016-01-01

Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.

Rowell syndrome

Directory of Open Access Journals (Sweden)

Ramesh Y Bhat

2014-01-01

Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

[Poland's syndrome].

Science.gov (United States)

Slezak, R; Sasiadek, M

2000-08-01

Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

[Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

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Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

2009-01-01

The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

Burning Mouth Syndrome and "Burning Mouth Syndrome".

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Rifkind, Jacob Bernard

2016-03-01

Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

Marfan Syndrome (For Teens)

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... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

Learning about Marfan Syndrome

Science.gov (United States)

... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

Divorce in families of children with Down Syndrome or Rett Syndrome.

Science.gov (United States)

Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

2015-05-01

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

The sick-building syndrome; Das Sick-Building-Syndrom

Energy Technology Data Exchange (ETDEWEB)

Henne, A.; Neumann, H.F.; Winneke, G.

1992-12-31

The sick-building syndrome is characterized by the presence of general, non-specific symptoms (e.g., headache, tiredness, respiratory problems, eye trouble, vertigo, nausea, unspecific hypersensitivity) in association with a particular indoor ambience. It is clearly distinguishable from `building-related illness`, referring to a well-defined clinical syndrome due to staying in a building and for which a cause can, in general, be established. Disorders in the case of the sick-building syndrome are manifold and confirmed objectifiable results are hardly available so far. Yet there are some organ-related methods for the confirmation of findings concerning, for instance, the eyes, the skin and the area of the nose. The causes of the incidence of sick-building syndrome are more or less unclear. It is a multifactorial phenomenon involving physical, biological, chemical, individual-specific and psychological factors. Buildings where sick-building syndrome occurs typically exhibit certain properties. The European Community has already made proposals for the investigation of incriminated buildings. A systematic survey by questionnaire together with individual interviews plays an import part towards clarifying the syndrome. (orig./UWA) [Deutsch] Das Sick-Building-Syndrom beschreibt das Vorhandensein von allgemeinen, nicht spezifischen Symptomen (z.B. Kopfschmerzen, Muedigkeit, Atembeschwerden, Augenreizungen, Schwindelgefuehl, Uebelkeit, unspezifische Ueberempfindlichkeit), assoziiert mit einer besonderen Innenraumumgebung. Deutlich hiervon abzugrenzen ist die ``Building related illness``, bei der ein klinisch definiertes Krankheitsbild vorliegt, das durch den Aufenthalt im Gebaeude verursacht wird und fuer das im allgemeinen eine Ursache ermittelt werden kann. Das Beschwerdebild beim Sick-Building-Syndrom ist vielfaeltig, und gesicherte, objektivierbare Befunde liegen hierzu bisher kaum vor. Dennoch gibt es einige organbezogenen Methoden zur Befundabsicherung, z.B. fuer das

Hypokalaemia: Bartter's syndrome or pseudo-Bartter's syndrome?

OpenAIRE

Robb, J D; Delargy, M A; Nolan, M; Tomkin, G H

1984-01-01

The difficulties in the diagnosis of hypokalaemia are often considerable. This paper reports three patients who presented with hypokalaemia. Investigations are described which may help to distinguish Bartter's syndrome from pseudo-Bartter's syndrome.

Syndromes with supernumerary teeth.

Science.gov (United States)

Lubinsky, Mark; Kantaputra, Piranit Nik

2016-10-01

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

What Is Usher Syndrome?

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

Clinical significance of gas myelography and CT gas myelography of the thoracic spine and the lumbar spine

International Nuclear Information System (INIS)

Yoshinaga, Haruhiko

1984-01-01

Basic and clinical applications relating to air myelography of the cervical spine have already been studied and extensively been used as an adjuvant diagnostic method for diseases of the spine and the spinal cord. However, hardly any application and clinical evaluation have been made concerning gas myelography of the thoracic spine and the lumbar spine. The author examined X-ray findings of 183 cases with diseases of the thoracic spine and the lumbar spine, including contral cases. Gas X-ray photography included simple profile, forehead tomography, sagittal plane, and CT section. Morphological characteristics of normal X-ray pictures of the throacic spine and the lumbar spine were explained from 54 control cases, and all the diameters of the subarachnoidal space from the anterior to the posterior part were measured. X-ray findings were examined on pathological cases, namely 22 cases with diseases of the throacic spine and 107 cases with diseases of the lumbar spine, and as a result these were useful for pathological elucidation of spinal cord tumors, spinal carries, yellow ligament ossification, lumbar spinal canal stenosis, hernia of intervertebral disc, etc. Also, CT gas myelography was excellent in stereoobservation of the spine and the spinal cord in spinal cord tumors, yellow ligament ossification, and spinal canal stenosis. On the other hand, it is not suitable for the diagnoses of intraspinal vascular abnormality, adhesive arachinitis, and running abnormality of the cauda equina nerve and radicle. Gas myelography of the thoracic spine and the lambar spine, is very useful in clinics when experienced techniques are used in photographic conditions, and diagnoses are made, well understanding the characteristics of gas pictures. Thus, its application has been opened to selection of an operative technique, determination of operative ranges, etc. (J.P.N.)

Clinical significance of gas myelography and CT gas myelography of the thoracic spine and the lumbar spine

Energy Technology Data Exchange (ETDEWEB)

Yoshinaga, Haruhiko (Tokyo Medical Coll. (Japan))

1984-05-01

Basic and clinical applications relating to air myelography of the cervical spine have already been studied and extensively been used as an adjuvant diagnostic method for diseases of the spine and the spinal cord. However, hardly any application and clinical evaluation have been made concerning gas myelography of the thoracic spine and the lumbar spine. The author examined X-ray findings of 183 cases with diseases of the thoracic spine and the lumbar spine, including contral cases. Gas X-ray photography included simple profile, forehead tomography, sagittal plane, and CT section. Morphological characteristics of normal X-ray pictures of the throacic spine and the lumbar spine were explained from 54 control cases, and all the diameters of the subarachnoidal space from the anterior to the posterior part were measured. X-ray findings were examined on pathological cases, namely 22 cases with diseases of the throacic spine and 107 cases with diseases of the lumbar spine, and as a result these were useful for pathological elucidation of spinal cord tumors, spinal carries, yellow ligament ossification, lumbar spinal canal stenosis, hernia of intervertebral disc, etc. Also, CT gas myelography was excellent in stereo observation of the spine and the spinal cord in spinal cord tumors, yellow ligament ossification, and spinal canal stenosis. On the other hand, it is not suitable for the diagnoses of intraspinal vascular abnormality, adhesive arachinitis, and running abnormality of the cauda equina nerve and radicle. Gas myelography of the thoracic spine and the lambar spine, is very useful in clinics when experienced techniques are used in photographic conditions, and diagnoses are made, well understanding the characteristics of gas pictures. Thus, its application has been opened to selection of an operative technique, determination of operative ranges, etc.

Selective plasticity of primary afferent innervation to the dorsal horn and autonomic nuclei following lumbosacral ventral root avulsion and reimplantation in long term studies.

Science.gov (United States)

Wu, Lisa; Wu, Jun; Chang, Huiyi H; Havton, Leif A

2012-02-01

Previous studies involving injuries to the nerves of the cauda equina and the conus medullaris have shown that lumbosacral ventral root avulsion in rat models results in denervation and dysfunction of the lower urinary tract, retrograde and progressive cell death of the axotomized motor and parasympathetic neurons, as well as the emergence of neuropathic pain. Root reimplantation has also been shown to ameliorate several of these responses, but experiments thus far have been limited to studying the effects of lesion and reimplantation local to the lumbosacral region. Here, we have expanded the region of investigation after lumbosacral ventral root avulsion and reimplantation to include the thoracolumbar sympathetic region of the spinal cord. Using a retrograde tracer injected into the major pelvic ganglion, we were able to define the levels of the spinal cord that contain sympathetic preganglionic neurons innervating the lower urinary tract. We have conducted studies on the effects of the lumbosacral ventral root avulsion and reimplantation models on the afferent innervation of the dorsal horn and autonomic nuclei at both thoracolumbar and lumbosacral levels through immunohistochemistry for the markers calcitonin gene-related peptide (CGRP) and vesicular glutamate transporter 1 (VGLUT1). Surprisingly, our experiments reveal a selective and significant decrease of CGRP-positive innervation in the dorsal horn at thoracolumbar levels that is partially restored with root reimplantation. However, no similar changes were detected at the lumbosacral levels despite the injury and repair targeting efferent neurons, and being performed at the lumbosacral levels. Despite the changes evident in the thoracolumbar dorsal horn, we find no changes in afferent innervation of the autonomic nuclei at either sympathetic or parasympathetic segmental levels by CGRP or VGLUT1. We conclude that even remote, efferent root injuries and repair procedures can have an effect on remote and non

Sensitivity of intensity modulated proton therapy plans to changes in patient weight

International Nuclear Information System (INIS)

Albertini, Francesca; Bolsi, Alessandra; Lomax, Antony J.; Rutz, Hans Peter; Timmerman, Beate; Goitein, Gudrun

2008-01-01

Purpose: A retrospective study to investigate the sensitivity of intensity modulated proton therapy (IMPT) to changes in body weight occurring during the course of radiotherapy for patients treated in the sacral region. Materials and methods: During therapy, important weight gain and loss were observed for two patients treated to para-spinal tumors, which resulted in both patients being re-scanned and re-planned. Both patients were treated as part of their therapy, with a narrow-angle IMPT (NA-IMPT) plan delivering a 'dose hole' around the cauda equina (CE), which was mainly formed through modulation of Bragg peaks in depth. To investigate the impact of these weight changes on the proton range and delivered dose, the nominal fields were re-calculated on the new CT data sets. Results were analyzed by comparing these new plans with those originally delivered and by calculating changes in range and delivered doses in target volumes and normal tissues. Results: Maximum differences in proton range in the CE region of up to +8 mm and -13 mm, respectively, for the patient who gained weight and for the patient who lost weight, increased the maximum dose to the CE by only 2%. This indicates that both IMPT plans were relatively insensitive to substantial range uncertainties. Even greater differences in range (16 mm) in the planning target volume only slightly affected its dose homogeneity (differences in V 90% of 6% in the worst case). Nevertheless, some large undesired local dose differences were observed. Conclusions: We demonstrated, that, at least for the two analyzed cases, NA-IMPT plans are less sensitive to weight variations than one may expect. Still, we would advise to calculate new plans in case of substantial change in weight for patients treated in the sacral region, primarily due to the presence of new hot/cold area

Quality assurance experience with the randomized neuropathic bone pain trial (Trans-Tasman Radiation Oncology Group, 96.05)

International Nuclear Information System (INIS)

Roos, Daniel E.; Davis, Sidney R.; Turner, Sandra L.; O'Brien, Peter C.; Spry, Nigel A.; Burmeister, Bryan H.; Hoskin, Peter J.; Ball, David L.

2003-01-01

Background and purpose: Trans-Tasman Radiation Oncology Group 96.05 is a prospective randomized controlled trial comparing a single 8 Gy with 20 Gy in five fractions of radiotherapy (RT) for neuropathic pain due to bone metastases. This paper summarizes the quality assurance (QA) activities for the first 234 patients (accrual target 270). Materials and methods: Independent audits to assess compliance with eligibility/exclusion criteria and appropriateness of treatment of the index site were conducted after each cohort of approximately 45 consecutive patients. Reported serious adverse events (SAEs) in the form of cord/cauda equina compression or pathological fracture developing at the index site were investigated and presented in batches to the Independent Data Monitoring Committee. Finally, source data verification of the RT prescription page and treatment records was undertaken for each of the first 234 patients to assess compliance with the protocol. Results: Only one patient was found conclusively not to have genuine neuropathic pain, and there were no detected 'geographical misses' with RT fields. The overall rate of detected infringements for other eligibility criteria over five audits (225 patients) was 8% with a dramatic improvement after the first audit. There has at no stage been a statistically significant difference in SAEs by randomization arm. There was a 22% rate of RT protocol variations involving ten of the 14 contributing centres, although the rate of major dose violations (more than ±10% from protocol dose) was only 6% with no statistically significant difference by randomization arm (P=0.44). Conclusions: QA auditing is an essential but time-consuming component of RT trials, including those assessing palliative endpoints. Our experience confirms that all aspects should commence soon after study activation

[Ways to optimize the treatment of patients with discogenic-venous lumbosacral radiculomyeloischemia].

Science.gov (United States)

Skoromets, А А; Bubnova, Е V; Endalceva, S М; Kapitonov, D S; Lalayan, Т V; Perfilev, S V; Smolko, D G; Skoromets, А P; Skoromets, Т А; Sukhatskaya, О V; Shmonin, А А

2015-01-01

Treatment of patients with neurological manifestations of degenerative-dystrophic lesions of the spine must be integrated and optimized from the perspective of pathogenesis. Antiedematous therapy is an important moment that takes into account the development of localized swelling affected the spinal structures. We studied the efficacy of L-lysine aescinat in the treatment of patients with discogenic-venous lumbosacral radiculomyelopathy. We analyzed the therapeutic efficacy of antitumor therapy with the drug L-lysine aescinat in 40 patients with discogenic-venous lumbosacral radiculomyelopathy in comparison with a control group of 40 patients treated with conventional therapy in a neurological hospital. The age of the patients ranged from 30 to 60 years. In total, there were 36 (45 %) women and 44 (55%) men. Herniated discs were visualized by MRI in all patients, attention was drawn to the condition of radicular veins of the cauda equina. We assessed muscle strength of lumbosacral myotomes, their trophicity and state of segmental-conductor apparatus sensitivity with the quantitative determination of the time of vibration of a tuning fork. The comparison of neurological status dynamics during treatment of inpatients has shown that neurological symptoms reduce more effectively in patients treated with L - lysine aescinat (by 75% during the first 3-5 days) and in a greater number of the patients (77.5% vs 55% in the control group). The authors' experience has shown that venous micro- and macro-circulation disorders play an important role in the pathogenesis of lower lumbar disk hernia. Clinical manifestations of these disorders are segmental and conductive spinal motor disorders in myotomes and sensitivity. Quantitative determination of vibration sensitivity (tuning fork test) is pathognomonic for radiculomyeloischemia. Vein tonics and antiedemics, including L - lysine aescinat as one of the most effective drugs, exert a pathogenetic effect on spondylic and discogenic

Post-surgical functional recovery, lumbar lordosis, and range of motion associated with MR-detectable redundant nerve roots in lumbar spinal stenosis.

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Chen, Jinshui; Wang, Juying; Wang, Benhai; Xu, Hao; Lin, Songqing; Zhang, Huihao

2016-01-01

T1- and T2-weighted magnetic resonance images (MRI) can reveal lumbar redundant nerve roots (RNRs), a result of chronic compression and nerve elongation associated with pathogenesis of cauda equina claudication (CEC) in degenerative lumbar canal stenosis (DLCS). The study investigated effects of lumbar lordosis angle and range of motion on functional recovery in lumbar stenosis patents with and without RNRs. A retrospective study was conducted of 93 lumbar spinal stenosis patients who underwent decompressive surgery. Eligible records were assessed by 3 independent blinded radiologists for presence or absence of RNRs on sagittal T2-weighted MR (RNR and non-RNR groups), pre- and post-operative JOA score, lumbar lordosis angle, and range of motion. Of 93 total patients, the RNR group (n=37, 21/37 female) and non-RNR group (n=56; 31/56 female) had similar preoperative conditions (JOA score) and were not significantly different in age (mean 64.19 ± 8.25 vs. 62.8 ± 9.41 years), symptom duration (30.92 ± 22.43 vs. 28.64 ± 17.40 months), or follow-up periods (17.35 ± 4.02 vs. 17.75 ± 4.29 mo) (all p>0.4). The non-RNR group exhibited significantly better final JOA score (p=0.015) and recovery rate (p=0.002). RNR group patients exhibited larger lumbar lordosis angles in the neutral position (p=0.009) and extension (p=0.021) and larger range of motion (p=0.008). Poorer surgical outcomes in patients with RNRs indicated that elevated lumbar lordosis angle and range of motion increased risks of RNR formation, which in turn may cause poorer post-surgical recovery, this information is possibly useful in prognostic assessment of lumbar stenosis complicated by RNRs. Copyright © 2015 Elsevier B.V. All rights reserved.

Lumbar interbody fusion: techniques, indications and comparison of interbody fusion options including PLIF, TLIF, MI-TLIF, OLIF/ATP, LLIF and ALIF

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Phan, Kevin; Malham, Greg; Seex, Kevin; Rao, Prashanth J.

2015-01-01

Degenerative disc and facet joint disease of the lumbar spine is common in the ageing population, and is one of the most frequent causes of disability. Lumbar spondylosis may result in mechanical back pain, radicular and claudicant symptoms, reduced mobility and poor quality of life. Surgical interbody fusion of degenerative levels is an effective treatment option to stabilize the painful motion segment, and may provide indirect decompression of the neural elements, restore lordosis and correct deformity. The surgical options for interbody fusion of the lumbar spine include: posterior lumbar interbody fusion (PLIF), transforaminal lumbar interbody fusion (TLIF), minimally invasive transforaminal lumbar interbody fusion (MI-TLIF), oblique lumbar interbody fusion/anterior to psoas (OLIF/ATP), lateral lumbar interbody fusion (LLIF) and anterior lumbar interbody fusion (ALIF). The indications may include: discogenic/facetogenic low back pain, neurogenic claudication, radiculopathy due to foraminal stenosis, lumbar degenerative spinal deformity including symptomatic spondylolisthesis and degenerative scoliosis. In general, traditional posterior approaches are frequently used with acceptable fusion rates and low complication rates, however they are limited by thecal sac and nerve root retraction, along with iatrogenic injury to the paraspinal musculature and disruption of the posterior tension band. Minimally invasive (MIS) posterior approaches have evolved in an attempt to reduce approach related complications. Anterior approaches avoid the spinal canal, cauda equina and nerve roots, however have issues with approach related abdominal and vascular complications. In addition, lateral and OLIF techniques have potential risks to the lumbar plexus and psoas muscle. The present study aims firstly to comprehensively review the available literature and evidence for different lumbar interbody fusion (LIF) techniques. Secondly, we propose a set of recommendations and guidelines

Radiation-induced neuropathies: collateral damage of improved cancer prognosis

International Nuclear Information System (INIS)

Pradat, Pierre-Francois; Maisonobe, Thierry; Psimaras, Dimitri; Lenglet, Timothee; Porcher, Raphael; Lefaix, J.L.; Delenian, S.

2012-01-01

Because of the improvement of cancer prognosis, long-term damages of treatments become a medical and public health problem. Among the iatrogenic complications, neurological impairment is crucial to consider since motor disability and pain have a considerable impact on quality of life of long cancer survivors. However, radiation-induced neuropathies have not been the focus of great attention. The objective of this paper is to provide an updated review about the radiation-induced lesions of the peripheral nerve system. Radiation-induced neuropathies are characterized by their heterogeneity in both symptoms and disease course. Signs and symptoms depend on the affected structures of the peripheral nerve system (nerve roots, nerve plexus or nerve trunks). Early-onset complications are often transient and late complications are usually progressive and associated with a poor prognosis. The most frequent and well known is delayed radiation-induced brachial plexopathy, which may follow breast cancer irradiation. Radiation-induced lumbosacral radiculoplexopathy is characterized by pure or predominant lower motor neuron signs. They can be misdiagnosed, confused with amyotrophic lateral sclerosis (ALS) or with leptomeningeal metastases since nodular MRI enhancement of the nerve roots of the cauda equina and increased cerebrospinal fluid protein content can be observed. In the absence of specific markers of the link with radiotherapy, the diagnosis of post-radiation neuropathy may be difficult. Recently, a posteriori conformal radiotherapy with 3D dosimetric reconstitution has been developed to link a precise anatomical site to unexpected excess irradiation. The importance of early diagnosis of radiation-induced neuropathies is underscored by the emergence of new disease-modifying treatments. Although the pathophysiology is not fully understood, it is already possible to target radiation-induced fibrosis but also associated factors such as ischemia, oxidative stress and

Regional differences in steroidogenesis and hormone levels in the epididymis and vas deferens of adult rats.

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Kumari, G L; Allag, I S; Das, R P; Datta, J K

1980-06-01

In vivo and in vitro studies with different parts of the epididymis and vas deferens were carried out to determine their inherent capacity to synthesize steroids and to correlate with the endogenous levels with or without the administration of hCG. Incubation with 14C-labelled pregnenolone and testosterone demonstrated that caput epididymidis was more active than other parts in synthesizing testosterone from 14C-pregnenolone and in converting labelled testosterone to 5 alpha-dihydrotestosterone (DHT). The cauda epididymidis and vas deferens accumulated more radioactivity in progesterone and dehydroepiandrosterone (DHEA) than the caput epididymidis. The levels of DHT, testosterone and 4-androstene-3, 17-dione in the caput epididymidis were reduced after ligation of ipselateral efferent ductules indicating the testicular origin of these steroids. The cauda epididymidis and vas deferens had higher levels of progesterone as compared to the other regions of the epididymis, which were decreased after the ligation. Intravenous injection of hCG increased the levels of oestradiol-17 beta in all tissues and markedly in the cauda epididymidis and vas deferens. The high levels of progesterone and oestradiol-17 beta present in these organs may be of importance in maintaining fertilizing ability of spermatozoa stored in the cauda epididymidis and vas deferens and their transport.

Autoimmune/inflammatory syndrome induced by adjuvants (Shoenfeld's syndrome) - An update.

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Watad, A; Quaresma, M; Brown, S; Cohen Tervaert, J W; Rodríguez-Pint, I; Cervera, R; Perricone, C; Shoenfeld, Y

2017-06-01

Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity. Such factors have been demonstrated as able to induce autoimmunity in both animal models and humans via a variety of proposed mechanisms. In recent years, physicians have become more aware of the existence of ASIA syndrome and the relationship between adjuvants exposure and autoimmunity and more cases are being reported. Accordingly, we have created a registry that includes at present more than 300 ASIA syndrome cases that have been reported by different physicians worldwide, describing various autoimmune conditions induced by diverse adjuvants. In this review, we have summarized the updated literature on ASIA syndrome and the knowledge accumulated since 2013 in order to elucidate the association between the exposure to various adjuvant agents and its possible clinical manifestations. Furthermore, we especially referred to the relationship between ASIA syndrome and systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS).

Toxic shock syndrome

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

Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

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Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

2014-01-01

Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

Management of moyamoya syndrome in patients with Noonan syndrome.

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Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

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Hill, Elizabeth A.

2016-01-01

Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35?42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surve...

What is Metabolic Syndrome?

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... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

Prune belly syndrome

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Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

Gorlin-goltz syndrome

Directory of Open Access Journals (Sweden)

B V Shobha

2011-01-01

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

Refeeding syndrome

OpenAIRE

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

2008-01-01

Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes （hypokala...

Nevoid basal cell carcinoma syndrome

Science.gov (United States)

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

The wellness syndrome

DEFF Research Database (Denmark)

Mik-Meyer, Nanna

2015-01-01

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

Evaluation of neutralization patterns of the five unique Argentine equine arteritis virus field strains reported Evaluación de los patrones de neutralización de las únicas cinco cepas argentinas descritas de arteritis viral equina

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M. G. Echeverría

2010-02-01

Full Text Available Equine viral arteritis (EVA is a contagious viral disease that frequently causes mild or subclinical infections in adult horses. Only one EAV serotype has been described. However, there are differences in antigenicity, pathogenicity and neutralization characteristics of virus field strains. The interaction of two viral proteins, GP5 and M, is critical for infectivity and amino acid changes in the GP5 sequences have an effect on the neutralizing phenotype, regardless the effects of other viral proteins. The objective of the present study was to evaluate the neutralization phenotypes of the 5 unique Argentine EAV strains reported and to compare them with the neutralization phenotypes of the EAV-UCD reference strain, with special emphasis on the analysis of M and GP5 proteins. The strains had a similar neutralization phenotype pattern when anti-EAV serum, derived from EAV seropositive horses, was used in the analysis. Meanwhile, low titers were observed when equine polyclonal anti-EAV reference sera were used in the assay. Argentine strains have almost the same amino acid substitutions, with the exception of LP01 strain, that mainly involves the first variable region V1, especially in neutralization sites B and C. However, they are fairly different from the EAV-UCD strain. Nevertheless, the nucleotide and amino acid differences observed among the Argentine strains LP02/R, LP02/C, LP02/P and LP-LT-ARG did not show any variations in the neutralization phenotype.La arteritis viral equina (AVE ocasiona infecciones, en su mayoría subclínicas, pero puede causar abortos y enfermedad respiratoria. Si bien se ha descrito un solo serotipo de AVE, existen diferencias en cuanto a la antigenicidad, patogenicidad y patrones de neutralización en las cepas de campo. Los ORF5 y ORF6 del virus codifican las proteínas de envoltura GP5 y M; la interacción entre estas proteínas es crítica para la infectividad. Los cambios en las secuencias de aminoácidos en la

Turner Syndrome: Other FAQs

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... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

Bardet-Biedl syndrome and Usher syndrome.

Science.gov (United States)

Koenig, Rainer

2003-01-01

Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

Abdominal compartment syndrome with acute reperfusion syndrome

International Nuclear Information System (INIS)

Maleeva, A.

2017-01-01

Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

Science.gov (United States)

Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

2014-08-01

Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Roberts-SC syndrome, a rare syndrome and cleft palate repair

Directory of Open Access Journals (Sweden)

Murthy Jyotsna

2008-01-01

Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

Sjogren-Larsson Syndrome

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... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

Redefining syndromic surveillance

Directory of Open Access Journals (Sweden)

Rebecca Katz

2011-12-01

Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

Gorlin-Goltz Syndrome

Directory of Open Access Journals (Sweden)

Padma Pandeshwar

2012-01-01

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

Sjögren syndrome

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Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...

Marfan Syndrome (For Parents)

Science.gov (United States)

... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

Science.gov (United States)

Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

2012-10-01

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome

Directory of Open Access Journals (Sweden)

N K Kiran

2012-01-01

Full Text Available The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

``Battered child`` syndrome; Das ``Battered-Child``-Syndrom

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Elsner, K.; Merk, J.; Sokiranski, R. [Ulm Univ. (Germany). Abt. Diagnostische Radiologie

1997-10-01

Synonyms for the `battered child` syndrome (BCS) are terms describing the physical and body aspects of the process, such as `child abuse`, or `non-accidental injury`. These are to be distinguished from the psychic aspects and abuse, emotional and bodily neglect, and sexual abuse. Most cases are one or another combination of these aspects. Radiology is the essential method for giving proof of such abuses, identifying the signs of maltreatment in a medical record, or for disproving suspected abuse. (orig./AJ) [Deutsch] Als Synonym fuer das `Battered-Child`-Syndrom (BCS) stehen die Begriffe der koerperlichen-/physikalischen-Kindesmisshandlung, im angelsaechsischen Sprachraum die Begriffe `Child Abuse` und `Nonaccidental Injury`. Vom Syndrom abzugrenzen sind die seelische Misshandlung, die seelische und koerperliche Vernachlaessigung, und der sexuelle Missbrauch. Kombinationsformen sind nicht selten. Bei der Diagnostik des Syndroms spielt die Radiologie eine entscheidende Rolle. So hilft der Einsatz adaequater Untersuchungsmethoden, den Tatbestand der Misshandlung zu identifizieren und zu dokumentieren, aber auch einen Verdacht zu widerlegen. (orig./AJ)

Hepatorenal syndrome

Science.gov (United States)

... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

Separação espermática pré refrigeração do sêmen equino

OpenAIRE

Gilson Antonio Pessoa

2016-01-01

As biotécnicas da reprodução na espécie equina avançaram na última década, tanto em conhecimento agregado por pesquisas como também pela demanda do mercado. No entanto, na espécie equina machos com subfertilidade são diagnosticados frequentemente com elevado número de espermatozoides com alterações morfológica e/ou imóveis. A utilização apenas de células viáveis para realizar o processo de resfriamento busca evitar perda de material (diluente) e produção de metabólitos tóxicos aos espermatozo...

Sistema de análisis de movimiento para caballos basado en videometría

OpenAIRE

Yolanda Torres-Pérez; Edwin Yesid Gómez-Pachón; Francisco Cuenca-Jiménez

2016-01-01

En este trabajo se describe el desarrollo y el uso de un nuevo sistema de análisis de movimiento para investigar y evaluar la cinemática 2D de la marcha equina, el cual utiliza un software de captura de movimiento, unos cálculos matemáticos y una interfaz gráfica diseñada para evaluar el modelo locomotor de los caballos. A partir de secuencias de vídeo de la marcha equina, registradas por cámaras de alta velocidad, se obtienen las coordenadas (x, y) a través de software TEMA 3.0; luego, se ca...

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

Science.gov (United States)

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

2015-03-01

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

Turner Syndrome (For Teens)

Science.gov (United States)

... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

DIDMOAD (Wolfram Syndrome

Directory of Open Access Journals (Sweden)

Masoud Nashibi

2016-07-01

Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

Less Is More: Efficacy of Rapid 3D-T2 SPACE in ED Patients with Acute Atypical Low Back Pain.

Science.gov (United States)

Koontz, Nicholas A; Wiggins, Richard H; Mills, Megan K; McLaughlin, Michael S; Pigman, Elaine C; Anzai, Yoshimi; Shah, Lubdha M

2017-08-01

Emergency department (ED) patients with acute low back pain (LBP) may present with ambiguous clinical findings that pose diagnostic challenges to exclude cauda equina syndrome (CES). As a proof of concept, we aimed to determine the efficacy of a rapid lumbar spine (LS) magnetic resonance imaging (MRI) screening protocol consisting of a single 3D-T2 SPACE FS (3D-T2 Sampling Perfection with Application optimized Contrasts using different flip angle Evolution fat saturated) sequence relative to conventional LS MRI to exclude emergently treatable pathologies in this complex patient population. LS MRI protocol including a sagittal 3D-T2 SPACE FS pulse sequence was added to the routine for ED patients presenting with acute atypical LBP over a 12-month period. Imaging findings were categorically scored on the 3D-T2 SPACE FS sequence and separately on the reference standard conventional LS MRI sequences. Patients' symptoms were obtained from review of the electronic medical record. Descriptive test statistics were performed. Of the 206 ED patients who obtained MRI for acute atypical LBP, 118 (43.3 ± 13.5 years of age; 61 female) were included. Specific pathologies detected on reference standard conventional MRI included disc herniation (n = 30), acute fracture (n = 3), synovial cyst (n = 3), epidural hematoma (n = 2), cerebrospinal fluid leak (n = 1), and leptomeningeal metastases (n = 1), and on multiple occasions these pathologies resulted in nerve root impingement (n = 36), severe spinal canal stenosis (n = 13), cord/conus compression (n = 2), and cord signal abnormality (n = 2). The 3D-T2 SPACE FS sequence was an effective screen for fracture (sensitivity [sens] = 100%, specificity [spec] = 100%), cord signal abnormality (sens = 100%, spec = 99%), and severe spinal canal stenosis (sens = 100%, spec = 96%), and identified cord compression not seen on reference standard. Motion artifact was not seen on

[The Capgras syndrome].

Science.gov (United States)

Anikina, M A; Levin, O S

2013-01-01

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

Revesz syndrome

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Dayane Cristine Issaho

2015-04-01

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

Cardiorenal Syndrome in Acute Heart Failure Syndromes

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Mohammad Sarraf

2011-01-01

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

Interstitial Cystitis/Painful Bladder Syndrome and Associated Medical Conditions With an Emphasis on Irritable Bowel Syndrome, Fibromyalgia and Chronic Fatigue Syndrome

DEFF Research Database (Denmark)

Nickel, J.C.; Tripp, D.A.; Pontari, M.

2010-01-01

of associated conditions increased (ie localized, regional, systemic), pain, stress, depression and sleep disturbance increased while social support, sexual functioning and quality of life deteriorated. Anxiety and catastrophizing remained increased in all groups. Symptom duration was associated......Purpose: We characterized and compared the impact of clinical phenotypic associations between interstitial cystitis/painful bladder syndrome and controls in relation to potentially related conditions, particularly irritable bowel syndrome, fibromyalgia and chronic fatigue syndrome. Materials...... cystitis/painful bladder syndrome vs controls was irritable bowel syndrome 38.6% vs 5.2%, fibromyalgia 17.7% vs 2.6% and chronic fatigue syndrome 9.5% vs 1.7% (all p

Plummer-Vinson syndrome

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Novacek Gottfried

2006-09-01

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

Genetics Home Reference: antiphospholipid syndrome

Science.gov (United States)

... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

Genetics Home Reference: Costello syndrome

Science.gov (United States)

... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

Metabolic syndrome and menopause

Directory of Open Access Journals (Sweden)

Jouyandeh Zahra

2013-01-01

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

Wolfram syndrome 1 and Wolfram syndrome 2.

Science.gov (United States)

Rigoli, Luciana; Di Bella, Chiara

2012-08-01

Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

Interaction Between Syndromic and Non-Syndromic Factors Affecting Speech and Language Development in Treacher-Collins Syndrome

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Marziyeh Poorjavad

2011-09-01

Full Text Available Background: Treacher-Collins syndrome is a congenital craniofacial disorder with multiple anomalies. This syndrome affects the maxilla, mandible, eyes, middle and outer ears, and soft palate. Conductive hearing loss due to the deformities of the middle and external ears is prevalent. The characteristics of this syndrome include multiple and serious threats to normal communication development in children. In this study, speech and language features of a Persian speaking child with this syndrome are presented.Case: The case was an 8-year old girl with Treacher-Collins syndrome and bilateral moderate conductive hearing loss due to atretic canal. In language and speech assessments, moderate hypernasality, numerous compensatory errors and morphosyntactic deficits were observed. There were 13 phonemes that were incorrectly produced at least in one position. Besides, she used 22 types of phonological processes that were abnormal and disappear before the age of three in normal Persian speaking children.Conclusion: Moderate hearing loss, velopharyngeal incompetency, malocclusion and dental anomalies, attention deficit/hyperactivity disorder (ADHD and environmental factors resulted in severe speech and language disorders in this case. These disorders affected her academic performance as well. Moderate hypernasality, numerous compensatory errors, and excessive and abnormal use of phonological processes were not presented as prevalent characteristics of Treacher-Collins syndrome in other resources.

Urofacial syndrome

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Kamal F Akl

2012-01-01

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

Felty syndrome

Science.gov (United States)

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

Pendred Syndrome

Science.gov (United States)

... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

Unusual headache syndromes.

Science.gov (United States)

Queiroz, Luiz P

2013-01-01

Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

Burnout Syndrome of Teachers

OpenAIRE

Semrádová, Michaela

2013-01-01

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

Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

Directory of Open Access Journals (Sweden)

Ana Cláudia Giaxa Prosdócimo

2015-03-01

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

"Nine" syndrome: A new neuro-ophthalmologic syndrome: Report of two cases

Directory of Open Access Journals (Sweden)

Rohan R Mahale

2015-01-01

Full Text Available "Eight-and-a-half" syndrome is a rare condition involving the ipsilateral abducens nucleus or paramedian pontine reticular formation (PPRF, the ipsilateral medial longitudinal fasciculus (MLF, and the adjacent facial colliculus/facial nerve fascicle. The condition is often caused by a lesion (vascular or demyelinating in the dorsal tegmentum of the caudal pons. There are new variants of this syndrome caused by extension of lesion to involve new adjacent structures in pontine tegmentum. We report two patients with different etiology presenting with clinical features suggestive of eight-and-a-half syndrome associated with hemiataxia representing "nine" syndrome (8– + – = 9 adding new dimension to "eight-and-a-half" syndrome.

Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

NARCIS (Netherlands)

Verzijl, H.T.F.M.; Zwaag, A. van der; Cruysberg, J.R.M.; Padberg, G.W.A.M.

2003-01-01

OBJECTIVE: To investigate the variable clinical picture of Mobius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS: A standardized questionnaire was submitted to 37 Dutch patients with Mobius syndrome. All underwent standardized neurologic examination

Bartter syndrome

Science.gov (United States)

... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

Dravet Syndrome

Science.gov (United States)

... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

Genetics Home Reference: Marfan syndrome

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... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

Science.gov (United States)

Choi, Intae

2017-01-01

The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

Directory of Open Access Journals (Sweden)

Shukla Umesh

2010-11-01

Full Text Available Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

Science.gov (United States)

Goyal, Deepak; Yadav, Dinesh K; Shukla, Umesh; Sethi, Sidharth K

2010-11-08

We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

Rett Syndrome

Science.gov (United States)

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

Caplan syndrome

Science.gov (United States)

... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

Sotos Syndrome

Science.gov (United States)

... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

Science.gov (United States)

Banerjee, Purnajyoti; McLean, Christopher

2011-06-14

Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

Science.gov (United States)

Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

2015-03-01

Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

Abdominal vascular syndromes: characteristic imaging findings

International Nuclear Information System (INIS)

Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

2016-01-01

Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

Abdominal vascular syndromes: characteristic imaging findings

Energy Technology Data Exchange (ETDEWEB)

Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

2016-07-15

Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

Cushing's Syndrome

Science.gov (United States)

Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

Usher Syndrome

Science.gov (United States)

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

Metabolic Syndrome

Science.gov (United States)

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

Reye Syndrome

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

Turner Syndrome

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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 ...

Apert syndrome (acrocephalosyndactyly

Directory of Open Access Journals (Sweden)

Milovanović J.

2014-01-01

Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

Coexistent Brugada Syndrome and Wolff-Parkinson-White Syndrome: What is the Optimal Management?

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Abhishek Jaiswal, MBBS

2013-09-01

Full Text Available Coexistent Brugada syndrome and Wolff-Parkinson-White (WPW syndrome is rare, and as such poses management challenges. The overlap of symptoms attributable to each condition, the timing of ventricular stimulation after accessory pathway ablation and the predictive value of programmed stimulation in Brugada syndrome are controversial. We describe a case of coexistent Brugada syndrome and WPW syndrome in a symptomatic young adult. We discuss our treatment approach and the existing literature along with the challenges in management of such cases.

Cowden syndrome

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Ravi Prakash S

2010-01-01

Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

Metabolic syndrome and the risk of adverse cardiovascular events after an acute coronary syndrome.

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Cavallari, Ilaria; Cannon, Christopher P; Braunwald, Eugene; Goodrich, Erica L; Im, KyungAh; Lukas, Mary Ann; O'Donoghue, Michelle L

2018-05-01

Background The incremental prognostic value of assessing the metabolic syndrome has been disputed. Little is known regarding its prognostic value in patients after an acute coronary syndrome. Design and methods The presence of metabolic syndrome (2005 International Diabetes Federation) was assessed at baseline in SOLID-TIMI 52, a trial of patients within 30 days of acute coronary syndrome (median follow-up 2.5 years). The primary endpoint was major coronary events (coronary heart disease death, myocardial infarction or urgent coronary revascularization). Results At baseline, 61.6% ( n = 7537) of patients met the definition of metabolic syndrome, 34.7% (n = 4247) had diabetes and 29.3% had both ( n = 3584). The presence of metabolic syndrome was associated with increased risk of major coronary events (adjusted hazard ratio (adjHR) 1.29, p metabolic syndrome was numerically but not significantly associated with the risk of major coronary events (adjHR 1.13, p = 0.06). Conversely, diabetes was a strong independent predictor of major coronary events in the absence of metabolic syndrome (adjHR 1.57, p metabolic syndrome identified patients at highest risk of adverse outcomes but the incremental value of metabolic syndrome was not significant relative to diabetes alone (adjHR 1.07, p = 0.54). Conclusions After acute coronary syndrome, diabetes is a strong and independent predictor of adverse outcomes. Assessment of the metabolic syndrome provides only marginal incremental value once the presence or absence of diabetes is established.

Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea with Underlying Crohn’s Disease

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Е. А. Roslavtseva

2015-01-01

Full Text Available Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

A new familial intrauterine growth retardation syndrome the "3-M syndrome".

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Spranger, J; Opitz, J M; Nourmand, A

1976-09-01

Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

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Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

2008-12-01

Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

Brain-hepato-renal syndrome (Zellweger syndrome). Report of two cases and a review of the syndrome

International Nuclear Information System (INIS)

Ruiz, T.; Caparros, C.; Blanco, A.; Lopez, A.M.

1997-01-01

Cerebro-hepato-renal syndrome is a rare disorder that is transmitted by autosomal recessive inheritance. Children with this syndrome present mongoloid facies and severe muscle hypotonic at birth. Scimitar-like knee calcifications are considered a pathognomonic feature of this disorder. We present two patients with Zellweger syndrome, according to the diagnosis suggested by our Radiodiagnostic Service. Our objective is to stress the importance of the radiological findings, which in many cases are decisive in establishing the definitive diagnosis. (Author) 10 refs

Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

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Intae Choi

2017-08-01

Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

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Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

2012-01-01

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

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Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

2018-03-05

To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

Gardner's syndrome

International Nuclear Information System (INIS)

Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

1988-01-01

A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

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Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

2017-11-01

CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

Drug treatment of metabolic syndrome.

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Altabas, Velimir

2013-08-01

The metabolic syndrome is a constellation of risk factors for cardiovascular diseases including: abdominal obesity, a decreased ability to metabolize glucose (increased blood glucose levels and/or presence of insulin resistance), dyslipidemia, and hypertension. Patients who have developed this syndrome have been shown to be at an increased risk of developing cardiovascular disease and/or type 2 diabetes. Genetic factors and the environment both are important in the development of the metabolic syndrome, influencing all single components of this syndrome. The goals of therapy are to treat the underlying cause of the syndrome, to reduce morbidity, and to prevent complications, including premature death. Lifestyle modification is the preferred first-step treatment of the metabolic syndrome. There is no single effective drug treatment affecting all components of the syndrome equally known yet. However, each component of metabolic syndrome has independent goals to be achieved, so miscellaneous types of drugs are used in the treatment of this syndrome, including weight losing drugs, antidiabetics, antihypertensives, antilipemic and anticlothing drugs etc. This article provides a brief insight into contemporary drug treatment of components the metabolic syndrome.

Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

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Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

2017-01-01

Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

Neonatal bartter syndrome

International Nuclear Information System (INIS)

Parkash, J.; Salat, S. M.; Khan, I.A.

2006-01-01

A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

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Irene Berges-Raso

2017-09-01

Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

Neonatal respiratory distress syndrome

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

Dress syndrome with sepsis, acute respiratory distress syndrome and pneumomediastinum

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Prabhas Prasun Giri

2011-01-01

Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome reflects a serious hypersensitivity reaction to drugs, and is characterized by skin rash, fever, lymph node enlargement, and internal organ involvement. So far, numerous drugs such as sulfonamides, phenobarbital, sulfasalazine, carbamazepine, and phenytoin have been reported to cause DRESS syndrome. We report a case of a 10-year-old girl who developed clinical manifestations of fever, rash, lymphadenopathy, hypereosinophilia, and visceral involvement (hepatitis and pneumonitis after taking phenobarbital for seizures, with subsequent development of sepsis, acute respiratory distress syndrome (ARDS and spontaneous air leak syndrome (pnemothorax and pneumomediastinum. She was put on steroids and various antibiotics and was ventilated, but ultimately succumbed to sepsis and pulmonary complications.

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

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Sheetal Sharda

2011-01-01

Full Text Available There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

Radiation myelopathy

International Nuclear Information System (INIS)

Berlit, P.

1987-01-01

After a review of the world literature, the case histories of 43 patients with radiation myelopathy are analyzed. In 1 patient there was a radiation injury of the medulla oblongata, in 2, cervical, in 28, thoracic, and in 12, lumbosacral. In the medulla oblongata lesion an alternans syndrome resulted. The patients with cervical and thoracic radiation myelopathies presented with a Brown-Sequard syndrome, a spinalis anterior syndrome or a transversal syndrome with pyramidal and spinothalamic tract involvement as the most prominent signs. For this group the term 'pyramidal-spinothalamic radiation myelopathy' is proposed. In lumbosacral radiation lesions a pure anterior horn syndrome may lead to spinothalamic tract involvement and the development of a cauda conus syndrome. The clinical presentation of these cases suggests that the location of the radiation lesion is most likely the region of the conus medullaris. The most frequent initial symptom was dysesthesia; the patients complained of burning pain or a feeling of coldness. Usually the neurological deficits were progressive, in pyramidal-spinothalamic radiation myelopathy over 12 months in average, in lumbosacral radiation lesions up to 10 years. The latent period between the finish of radiation therapy and the first neurological signs was 8 months (median) in cervical and thoracic myelopathy and 33 months in lumbosacral lesions. For the entire group of 43 patients there was an inverse relationship between the radiation dose (ret) and the latent period. A positive relation could be demonstrated between the age of patients at the time of radiation therapy and the latent period. Patients simultaneously receiving cytostatic drugs presented after a longer latent period than the remaining group. (orig./MG)

Radiation myelopathy. Analysis of the clinical picture. Die Strahlenmyelopathie. Klinische Analyse des Krankheitsbildes

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Berlit, P

1987-01-01

After a review of the world literature, the case histories of 43 patients with radiation myelopathy are analyzed. In 1 patient there was a radiation injury of the medulla oblongata, in 2, cervical, in 28, thoracic, and in 12, lumbosacral. In the medulla oblongata lesion an alternans syndrome resulted. The patients with cervical and thoracic radiation myelopathies presented with a Brown-Sequard syndrome, a spinalis anterior syndrome or a transversal syndrome with pyramidal and spinothalamic tract involvement as the most prominent signs. For this group the term 'pyramidal-spinothalamic radiation myelopathy' is proposed. In lumbosacral radiation lesions a pure anterior horn syndrome may lead to spinothalamic tract involvement and the development of a cauda conus syndrome. The clinical presentation of these cases suggests that the location of the radiation lesion is most likely the region of the conus medullaris. The most frequent initial symptom was dysesthesia; the patients complained of burning pain or a feeling of coldness. Usually the neurological deficits were progressive, in pyramidal-spinothalamic radiation myelopathy over 12 months in average, in lumbosacral radiation lesions up to 10 years. The latent period between the finish of radiation therapy and the first neurological signs was 8 months (median) in cervical and thoracic myelopathy and 33 months in lumbosacral lesions. For the entire group of 43 patients there was an inverse relationship between the radiation dose (ret) and the latent period. A positive relation could be demonstrated between the age of patients at the time of radiation therapy and the latent period. Patients simultaneously receiving cytostatic drugs presented after a longer latent period than the remaining group. With 17 figs.

Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

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Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

2015-05-07

Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

Rare case of nephrotic syndrome: Schimke syndrome.

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

2016-01-01

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

Gorlin-goltz syndrome

International Nuclear Information System (INIS)

Ahmed, N.; Salman, M.; Mansoor, M.A.

2007-01-01

Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

Cardio-renal syndrome

OpenAIRE

Gnanaraj, Joseph; Radhakrishnan, Jai

2016-01-01

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

Tourette Syndrome

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

Lemierre's syndrome

DEFF Research Database (Denmark)

Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

2014-01-01

Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

Sleep overlap syndrome

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Fariba Rezaeetalab

2016-12-01

Full Text Available Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD and obstructive sleep apnea (OSA, was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from either condition alone. Given the high prevalence of each solitary disease, overlap syndrome is also likely to be common and clinically relevant. Despite the fact that overlap syndrome has been described in the literature for nearly 30 years, paucity of evaluations and studies limited the discussion on diagnosis, prevalence, pathophysiology, treatment, and outcomes of this disease. This review article addresses these issues by reviewing several recent studies conducted in Iran or other countries. This review suggests that overlap syndrome has worse outcomes than either disease alone. Our findings accentuated the urgent need for further studies on overlap syndrome and all overlaps between OSA and chronic pulmonary disease to provide a deeper insight into diagnosis and non-invasive treatments of this disease.

What Causes Cushing's Syndrome?

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

[The refeeding syndrome].

Science.gov (United States)

Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

2015-01-01

The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

OpenAIRE

Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

2012-01-01

Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

Relationships among personality traits, metabolic syndrome, and metabolic syndrome scores: The Kakegawa cohort study.

Science.gov (United States)

Ohseto, Hisashi; Ishikuro, Mami; Kikuya, Masahiro; Obara, Taku; Igarashi, Yuko; Takahashi, Satomi; Kikuchi, Daisuke; Shigihara, Michiko; Yamanaka, Chizuru; Miyashita, Masako; Mizuno, Satoshi; Nagai, Masato; Matsubara, Hiroko; Sato, Yuki; Metoki, Hirohito; Tachibana, Hirofumi; Maeda-Yamamoto, Mari; Kuriyama, Shinichi

2018-04-01

Metabolic syndrome and the presence of metabolic syndrome components are risk factors for cardiovascular disease (CVD). However, the association between personality traits and metabolic syndrome remains controversial, and few studies have been conducted in East Asian populations. We measured personality traits using the Japanese version of the Eysenck Personality Questionnaire (Revised Short Form) and five metabolic syndrome components-elevated waist circumference, elevated triglycerides, reduced high-density lipoprotein cholesterol, elevated blood pressure, and elevated fasting glucose-in 1322 participants aged 51.1±12.7years old from Kakegawa city, Japan. Metabolic syndrome score (MS score) was defined as the number of metabolic syndrome components present, and metabolic syndrome as having the MS score of 3 or higher. We performed multiple logistic regression analyses to examine the relationship between personality traits and metabolic syndrome components and multiple regression analyses to examine the relationship between personality traits and MS scores adjusted for age, sex, education, income, smoking status, alcohol use, and family history of CVD and diabetes mellitus. We also examine the relationship between personality traits and metabolic syndrome presence by multiple logistic regression analyses. "Extraversion" scores were higher in those with metabolic syndrome components (elevated waist circumference: P=0.001; elevated triglycerides: P=0.01; elevated blood pressure: P=0.004; elevated fasting glucose: P=0.002). "Extraversion" was associated with the MS score (coefficient=0.12, P=0.0003). No personality trait was significantly associated with the presence of metabolic syndrome. Higher "extraversion" scores were related to higher MS scores, but no personality trait was significantly associated with the presence of metabolic syndrome. Copyright © 2018 Elsevier Inc. All rights reserved.

SNEDDON’S SYNDROME

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Valentin Valtchev

2008-10-01

Full Text Available Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome.

Sjogren′s Syndrome: A Review

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Rani Somani

2011-01-01

Full Text Available Sjogren′s syndrome, also known as "Mikulicz disease" or "Sicca syndrome" is a systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva. It can exist by itself (primary Sjogren syndrome or develop in association with another disorder such as rheumatoid arthritis, systemic sclerosis, primary biliary cirrhosis or Hashimoto thyroiditis (associated Sjogren syndrome. Hallmarks are the dry mouth and dry eyes known as the Sicca syndrome. Sjogren syndrome affects t million to 4 million people in the United States- Most are over 40 years old at the time of diagnosis. As there is no known cure for Sjogren syndrome, treatment focuses on relieving symptoms and preventing complications. The most serious complication associated with primary Sjogren syndrome is the development of a lymphoproliferative disease. primarily non-Hodgkin lymphoma.

The ``eco-syndrome`` and what causes it; Das Oeko-Syndrom`` und seine Ausloeser

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Voack, C. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Borelli, S. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Ring, J. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie

1997-01-24

Headache, tiredness, skin irritation etc. may be the results of adverse effects on health due to toxic substances in residential buildings and at workplaces. Possible causes of syndromes that are hard to objectify but associated with serious afflictions such as the ``eco-syndrome`` or Multiple Chemical Sensitivity (MCS) and the Sick Building Syndrome (SBS) are listed. (VHE) [Deutsch] Bei Kopfschmerzen, Muedigkeit, Hautirritationen u.ae. besteht die Moeglichkeit einer gesundheitlichen Beeintraechtigung durch Schadstoff im Wohn- oder Arbeitsbereich. Moegliche Ausloeser fuer schwer objektivierbare, aber mit hohem Leidensdruck verbundene Krankheitsbilder wie Oeko-Syndrom(Multiple Chemical Sensivity, MCS) und SBS (Sick-Building-Syndrom) werden aufgelistet. (VHE)

[Williams-Beuren syndrome (Williams syndrome). Case report].

Science.gov (United States)

Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

2017-11-01

Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

The association between the metabolic syndrome and metabolic syndrome score and pulmonary function in non-smoking adults.

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Yoon, Hyun; Gi, Mi Young; Cha, Ju Ae; Yoo, Chan Uk; Park, Sang Muk

2018-03-01

This study assessed the association of metabolic syndrome and metabolic syndrome score with the predicted forced vital capacity and predicted forced expiratory volume in 1 s (predicted forced expiratory volume in 1 s) values in Korean non-smoking adults. We analysed data obtained from 6684 adults during the 2013-2015 Korean National Health and Nutrition Examination Survey. After adjustment for related variables, metabolic syndrome ( p metabolic syndrome score ( p metabolic syndrome score with metabolic syndrome score 0 as a reference group showed no significance for metabolic syndrome score 1 [1.061 (95% confidence interval, 0.755-1.490)] and metabolic syndrome score 2 [1.247 (95% confidence interval, 0.890-1.747)], but showed significant for metabolic syndrome score 3 [1.433 (95% confidence interval, 1.010-2.033)] and metabolic syndrome score ⩾ 4 [1.760 (95% confidence interval, 1.216-2.550)]. In addition, the odds ratio of restrictive pulmonary disease of the metabolic syndrome [1.360 (95% confidence interval, 1.118-1.655)] was significantly higher than those of non-metabolic syndrome. Metabolic syndrome and metabolic syndrome score were inversely associated with the predicted forced vital capacity and forced expiratory volume in 1 s values in Korean non-smoking adults. In addition, metabolic syndrome and metabolic syndrome score were positively associated with the restrictive pulmonary disease.

Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

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Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

2013-01-01

Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

Goldenhar syndrome

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Neeraj Sharma

2013-01-01

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

[Neurobiology of Tourette Syndrome].

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Ünal, Dilek; Akdemir, Devrim

2016-01-01

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

Genetics Home Reference: Gorlin syndrome

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... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

Genetics Home Reference: Rett syndrome

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... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

[Menopause and metabolic syndrome].

Science.gov (United States)

Meirelles, Ricardo M R

2014-03-01

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

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome

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Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

2018-01-01

Abstract Rationale: The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. Patient concerns: We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Diagnoses: Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. Intervetions: The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Outcomes: Clinical improvement ensued. At follow-up the patient is well. Lessons: The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities. PMID:29642153

A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

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Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

2009-01-01

We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

Clinical update on metabolic syndrome

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Juan Diego Hernández-Camacho

2017-12-01

Full Text Available Metabolic syndrome has been defined as a global issue since it affects a lot of people. Numerous factors are involved in metabolic syndrome development. It has been described that metabolic syndrome has negative consequences on health. Consequently, a lot of treatments have been proposed to palliate it such as drugs, surgery or life style changes where nutritional habits have shown to be an important point in its management. The current study reviews the literature existing about the actual epidemiology of metabolic syndrome, the components involucrate in its appearance and progression, the clinical consequences of metabolic syndrome and the nutritional strategies reported in its remission. A bibliographic search in PubMed and Medline was performed to identify eligible studies. Authors obtained that metabolic syndrome is present in population from developed and undeveloped areas in a huge scale. Environmental and genetic elements are involucrate in metabolic syndrome development. Metabolic syndrome exponentially increased risk of cardiovascular disease, some types of cancers, diabetes mellitus type 2, sleep disturbances, etc. Nutritional treatments play a crucial role in metabolic syndrome prevention, treatment and recovery.

Genetics Home Reference: Tourette syndrome

Science.gov (United States)

... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

Comparison of metabolic syndrome with growing epidemic syndrome Z in terms of risk factors and gender differences.

Science.gov (United States)

Uyar, Meral; Davutoğlu, Vedat; Aydın, Neriman; Filiz, Ayten

2013-05-01

The aim of this study is to compare metabolic syndrome with syndrome Z growing epidemic in terms of risk factors, demographic variables, and gender differences in our large cohort at southeastern area in Turkey. Data of patients admitted to sleep clinic in University of Gaziantep from January 2006 to January 2011 were retrospectively evaluated. ATP III and JNC 7 were used for defining metabolic syndrome and hypertension. Data of 761 patients were evaluated. Hypertension, diabetes mellitus, coronary artery disease, pulmonary hypertension, and left ventricular hypertrophy were more common in patients with syndrome Z than in patients without metabolic syndrome. Age, waist/neck circumferences, BMI, triglyceride, glucose, and Epworth sleepiness scale score were detected higher, whereas the minimum oxygen saturation during sleep was lower in patients with syndrome Z. Metabolic syndrome was more common in sleep apneic subjects than in controls (58 versus 30 %). Female sleep apneics showed higher rate of metabolic syndrome than those of males (74 versus 52 %). Hypertension, diabetes mellitus, coronary artery disease, and left ventricular hypertrophy were detected higher in males with syndrome Z than in males without metabolic syndrome. Snoring and excessive daytime sleepiness were detected higher in females with syndrome Z than in females without metabolic syndrome. Systemic/pulmonary hypertension, diabetes mellitus, and left ventricular hypertrophy were more common in females with syndrome Z than in females without metabolic syndrome. Complaints of headache and systemic/pulmonary hypertension were more common among females than males with syndrome Z. Female syndrome Z patients had lower minimum oxygen saturation than male patients with syndrome Z. Metabolic syndrome in sleep apneic patients is more prevalent than in controls. All metabolic syndrome parameters were significantly different among obstructive sleep apneic patients with respect to gender with more severe

Facts about Down Syndrome

Science.gov (United States)

... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

LEOPARD-syndrom

DEFF Research Database (Denmark)

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

2009-01-01

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

[Refeeding syndrome].

Science.gov (United States)

Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

Efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome.

Science.gov (United States)

Chauhan, Vidyalaxmi; Shah, Maitri C; Patel, Sangita V; Marfatia, Yogesh S; Zalavadiya, Dhara

2016-01-01

In spite of a few shortcomings such as over diagnosis and over treatment, syndromic management is a recommended practice in India for sexually transmitted infections (STIs). This study tries to find out the efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome. The objective of the study is to find out the effectiveness of syndromic management in terms of symptomatic improvement among females with vaginal discharge syndrome. A longitudinal study was conducted in Gynecology Department of Tertiary Care Hospital including 180 symptomatic females having vaginal discharge syndrome. Demographic profile, presenting complaints, menstrual history, obstetric history, partner history, and contraceptive history were noted. This was followed by clinical examination and specimen collection for laboratory tests and blood tests to find out type of STI including viral STI such as human immunodeficiency virus (HIV), herpes simplex virus (HSV), and hepatitis B surface antigen (HBsAg). Treatment was given according to syndromic management on the same day. All the participants were asked to come for follow-up after 15 days and their improvement in symptoms was noted as complete improvement, some improvement or no improvement on a five point scale. 63.9% cases showed complete improvement, while 36.1% showed some improvement. None of the patients was without any improvement. Vaginal discharge syndrome was most common between 20 and 30 years (43.4%), and 67.8% of symptomatic females with vaginal discharge syndrome belonged to the lower socioeconomic group. HSV infection was the most common (15%) associated viral infection with vaginal discharge syndrome, while hepatitis B infection was the least common (0.5%). HIV was reactive in 2.8% cases only. Syndromic management was found to be effective in relieving symptoms in most of the cases of vaginal discharge syndrome.

Congenital nephrotic syndrome

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Claudia Fanni

2014-06-01

Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

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Hazza Issa

1999-01-01

Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

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Metwalley Kotb A

2008-10-01

Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

Science.gov (United States)

Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

2008-10-02

Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

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Mihir Kothari

2011-01-01

Full Text Available Marfan syndrome (MFS is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS is a congenital cranial dysinnervation disorder (CCDD which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

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Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

2001-01-01

A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

The Capgras syndrome in paranoid schizophrenia.

Science.gov (United States)

Silva, J A; Leong, G B

1992-01-01

Capgras syndrome is characterized by a delusion of impostors who are thought to be physically similar but psychologically distinct from the misidentified person. This syndrome is generally thought to be relatively rare. Most of our knowledge about Capgras syndrome derives from single case studies and small series of cases usually from diagnostically heterogeneous groups. In this article, a series of 31 patients suffering from both paranoid schizophrenia and Capgras syndrome is described. Issues pertaining to the phenomenology of Capgras syndrome, the possible relation between Capgras syndrome and other delusional misidentification syndromes, and a neurobiological hypothesis aimed at explaining Capgras syndrome are discussed.

Fahr's Syndrome

Science.gov (United States)

... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

Antiphospholipid syndrome

DEFF Research Database (Denmark)

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

2002-01-01

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

Eagle's Syndrome

Science.gov (United States)

Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

2013-01-01

Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

Eagle's Syndrome

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Pinheiro, Thaís Gonçalves

2014-01-01

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

Review of the refeeding syndrome.

Science.gov (United States)

Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

2005-12-01

Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

Heterogeneity in Waardenburg syndrome.

Science.gov (United States)

Hageman, M J; Delleman, J W

1977-01-01

Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

Symptoms and Diagnosis of Metabolic Syndrome

Science.gov (United States)

... Thromboembolism Aortic Aneurysm More Symptoms and Diagnosis of Metabolic Syndrome Updated:Apr 13,2017 What are the symptoms ... Syndrome? This content was last reviewed August 2016. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

Diagnostik af Dravet syndrom

DEFF Research Database (Denmark)

Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

2010-01-01

Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

[Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

Science.gov (United States)

Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

2006-01-01

We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

Acute nephritic syndrome

Science.gov (United States)

Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes in children ...

The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome

Directory of Open Access Journals (Sweden)

Emily Lorang

2017-12-01

Full Text Available Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome. Methods Twenty individuals with fragile X syndrome and 20 individuals with Down syndrome between nine and 22 years of age participated in this study. We coded gesture rate and purpose from an autism spectrum disorder evaluation, the Autism Diagnostic Observation Schedule – Second Edition. Results We did not find between-group differences (Down syndrome compared to fragile X syndrome in gesture rate or purpose. Notably, as autism spectrum disorder symptoms increased, the group with Down syndrome produced a lower rate of gestures, but used gestures for the same purpose. Gesture rate did not change based on autism spectrum disorder symptoms in the participants with fragile X syndrome, but as autism spectrum disorder symptoms increased, the participants with fragile X syndrome produced a larger proportion of gestures to regulate behavior and a smaller proportion for joint attention/social interaction. Conclusions Overall, the amount or purpose of gestures did not differentiate individuals with Down syndrome and fragile X syndrome. However, the presence of autism spectrum disorder symptoms had a significant and unique impact on these genetic disorders. In individuals with Down syndrome, the presence of more autism spectrum disorder symptoms resulted in a reduction in the rate of gesturing, but did not change the purpose. However, in fragile X syndrome, the rate of gestures remained the same, but the purpose of those gestures changed based on autism spectrum disorder symptoms. Implications Autism spectrum disorder symptoms differentially impact gestures in Down syndrome and fragile X syndrome. Individuals with Down syndrome and more autism spectrum disorder symptoms are using gestures less frequently. Therefore, clinicians may need to consider children with

Costello syndrome

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Madhukara J

2007-01-01

Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

Primary Sjögren’s Syndrome with Sensory Ganglionopathy and Painful Legs and Moving Toes Syndrome

Directory of Open Access Journals (Sweden)

Mehmet Uğur Çevik

2014-06-01

Full Text Available Sjogren’s syndrome is characterized by the sicca syndrome, with dryness of the mouth (xerostomia and the eyes (xerophthalmia. Sjogren's syndrome is the only connective tissue disease that has been associated with sensory neuronopathy. The syndrome of painful legs and moving toes consisting of pain in the lower limbs with spontaneous movements of the toes or feet. The association between Sjogren’s syndrome and painful legs and moving toes syndrome is a rare condition

Psychosomatic syndromes and anorexia nervosa

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Abbate-Daga Giovanni

2013-01-01

Full Text Available Abstract Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN, few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63% and alexithymia (54.6% resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%, somatization group (26%, and severe psychosomatic group (25%. The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments.

The Marfan syndrome genetics

Directory of Open Access Journals (Sweden)

Galina Pungerčič

2005-05-01

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

A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

Science.gov (United States)

Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

2016-05-01

In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

Science.gov (United States)

Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

2012-04-01

Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper management.

Polycystic Ovary Syndrome FAQ

Science.gov (United States)

... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

[Characteristics of traditional Chinese medicine syndromes in patients with acute ischemic stroke of yin or yang syndrome: a multicenter trial].

Science.gov (United States)

You, Jin-song; Huang, Yan; Cai, Ye-feng; Guo, Jian-wen; Liang, Wei-xiong; Huang, Pei-xin; Liu, Mao-cai

2008-04-01

To explore the composition characteristics of traditional Chinese medicine (TCM) syndromes in patients with acute ischemic stroke of yin or yang syndrome by investigating the characteristics of TCM syndromes at different periods after onset. One thousand two hundred and forty-six patients with acute ischemic stroke were admitted in twenty hospitals. According to the "diagnostic criteria of syndrome differentiation of stroke", the characteristics of syndromes in the patients were investigated at the periods of 1-3 days, 4-10 days and 11-30 days after they had ischemic stroke. General distribution of six basic syndromes was compared between the patients with yin syndrome and the patients with yang syndrome at the three periods. The six basic syndromes were wind syndrome, pathogenic fire syndrome, phlegm syndrome, blood stasis syndrome, qi deficiency syndrome, and syndrome of yin deficiency and yang hyperactivity. The percentages of wind, pathogenic fire, and phlegm syndromes in the patients were decreased at the period of 11-30 days as compared with the period of 1-3 days (87.1% vs 79.3%, 52.1% vs 38.7% and 67.1% vs 57.4% respectively, P0.05). There were no differences in the distribution of yin and yang syndromes among the three periods (P>0.05). The percentages of syndromes of wind, pathogenic fire, phlegm, and yin deficiency and yang hyperactivity were higher (Pfour or five syndromes were higher, and the percentages of single-syndromes and complex syndromes of two syndromes were lower in patients with yang syndrome than in patients with yin syndrome (P<0.05, P<0.01). The most frequent complex syndromes in patients with yin syndrome were complex syndrome of wind, phlegm, blood stasis and qi deficiency, and complex syndrome of wind, phlegm and qi deficiency; while the most frequent complex syndromes in patients with yang syndrome were complex syndrome of wind, pathogenic fire, phlegm and qi deficiency, and complex syndrome of wind, pathogenic fire and phlegm. The

Pfeiffer syndrome

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Fryns Jean-Pierre

2006-06-01

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

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

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Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne

2014-11-01

The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.

Mobius syndrome: MRI features

International Nuclear Information System (INIS)

Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

2003-01-01

Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

Ramsay Hunt syndrome

Science.gov (United States)

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

[Congenital sensorineural deafness and associated syndromes].

Science.gov (United States)

Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

1990-01-01

The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

Ambras syndrome

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Sudhir Malwade

2015-01-01

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

Cushing's syndrome during pregnancy

NARCIS (Netherlands)

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

1990-01-01

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

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.

Science.gov (United States)

Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

2013-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.

A rare cause of acute coronary syndrome: Kounis syndrome.

Science.gov (United States)

Almeida, João; Ferreira, Sara; Malheiro, Joana; Fonseca, Paulo; Caeiro, Daniel; Dias, Adelaide; Ribeiro, José; Gama, Vasco

2016-12-01

Kounis syndrome is an acute coronary syndrome in the context of a hypersensitivity reaction. The main pathophysiological mechanism appears to be coronary vasospasm. We report the case of a patient with a history of allergy to quinolones, who was given ciprofloxacin before an elective surgical procedure and during drug administration developed symptoms and electrocardiographic changes suggestive of ST-segment elevation acute coronary syndrome. The drug was suspended and coronary angiography excluded epicardial coronary disease. Two hours after withdrawal of the drug the symptoms and ST elevation had resolved completely. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

Pediatric Toxic Shock Syndrome

Directory of Open Access Journals (Sweden)

Jennifer Yee

2017-09-01

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

Klinefelter's syndrome and Prader-Willi syndrome: A rare combination

NARCIS (Netherlands)

Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

2007-01-01

In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

NARCIS (Netherlands)

Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

2007-01-01

In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

Hyperimmunoglobulin E syndrome with Sjogren's syndrome in a child

African Journals Online (AJOL)

We describe a case of hyperimmunoglobulin E syndrome (HIES) associated with Sjogren's syndrome (SS) in a 10-year-old boy and provide a brief review of the literature. Although seen in adults, SS occurring after a primary immunodeficiency disease such as HIES has not previously been reported in a child.

Marfan syndrome (image)

Science.gov (United States)

Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

Hyperimmunoglobulin E syndrome

Science.gov (United States)

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

Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

Science.gov (United States)

Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

2015-01-01

Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

Lemierre's syndrome

DEFF Research Database (Denmark)

Johannesen, Katrine M; Bodtger, Uffe

2016-01-01

This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

Kartagener's Syndrome.

Science.gov (United States)

Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

2009-01-01

Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

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

Science.gov (United States)

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

2015-11-01

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

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

NARCIS (Netherlands)

Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

2007-01-01

Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

Genetics Home Reference: MEGDEL syndrome

Science.gov (United States)

... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

Usher syndrome type III can mimic other types of Usher syndrome.

Science.gov (United States)

Pennings, Ronald J E; Fields, Randall R; Huygen, Patrick L M; Deutman, August F; Kimberling, William J; Cremers, Cor W R J

2003-06-01

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

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

Science.gov (United States)

Gandhi, N M; Bennett, D H

2004-01-01

The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

Carpal Tunnel Syndrome

Science.gov (United States)

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

Moebius Syndrome Foundation

Science.gov (United States)

... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

Ehlers-Danlos syndrome

Directory of Open Access Journals (Sweden)

Wakhloo Tulika

2015-01-01

Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

What Is Respiratory Distress Syndrome?

Science.gov (United States)

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

The acute radiation syndrome

International Nuclear Information System (INIS)

Souhami Filho, L.

1985-01-01

Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

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

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

2011-11-05

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

What Is Antiphospholipid Antibody Syndrome?

Science.gov (United States)

... Back To Health Topics / Antiphospholipid Antibody Syndrome Antiphospholipid Antibody Syndrome Also known as What Is Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders ...

Noonan syndrome - a new survey.

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Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

2017-02-01

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

Skin Peeling Syndrome

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Sharma Rajeev

2000-01-01

Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

Congenital Heart Diseases associated with Identified Syndromes ...

African Journals Online (AJOL)

Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

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

Science.gov (United States)

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

2015-06-01

A 64-year-old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention elsewhere in the scientific literature of a variant of Waardenburg syndrome with associated renal agenesis. © 2014 The Authors. Therapeutic Apheresis and Dialysis © 2014 International Society for Apheresis.

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

NARCIS (Netherlands)

Raaijmakers, R.; Noordam, C.; Noonan, J.A.; Croonen, E.A.; Burgt, C.J.A.M. van der; Draaisma, J.M.T.

2008-01-01

Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis

Gorlin-Goltz Syndrome

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M K Sunil

2010-01-01

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

Eagle syndrome. A narrative review

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Heber Arbildo

2016-09-01

Full Text Available Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid process and ligament stylohyoid calcification. The condition is accompanied by symptoms such as dysphonia, dysphagia, sore throat, glossitis, earache, tonsillitis, facial pain, headache, pain in the temporomandibular joint and inability to perform lateral movements of the neck. Diagnosis and treatment of Eagle syndrome based on symptoms and radiographic examination of the patient will determine the need for surgical or nonsurgical treatment. Eagle syndrome is a complex disorder demanding a thorough knowledge of its signs and symptoms to make a correct diagnosis and provide an appropriate subsequent treatment. Disseminating information about this syndrome among medical-dental professionals is essential to provide adequate dental care to patients.

Influence of traditional Chinese medicine syndrome groups on quality of life in women with metabolic syndrome

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Li-Wen Huang

2016-10-01

Full Text Available Traditional Chinese medicine (TCM; 中醫 zhōng yī syndrome groups are based on the symptoms of human diseases and guide the use of Chinese herbs. The aim of this study was to examine the effects of TCM syndrome groups on biochemical characteristics and quality of life (QOL in women with metabolic syndrome (MS. Among the 1080 registered female patients screened at our outpatient clinic, a total of 322 women aged between 18 and 65 years and meeting the requirements of MS were enrolled. All the patients were asked to fill out a questionnaire on metabolic TCM syndrome groups and a questionnaire on the QOL, the Medical Outcomes Study (MOS Short Form-12 (SF-12. Data of biochemical characteristics were collected at the same time. The present study showed MS women in TCM syndrome groups had significantly lower physical and mental component scores in SF-12 compared with those not in TCM syndrome groups. We also found MS patients in TCM syndrome groups, except Kidney Deficiency syndrome, showed higher body mass indexes, waist circumference, and hip circumference. However, there was almost no difference in most biochemical characteristics between TCM syndrome groups. The MS patients diagnosed as belonging to TCM syndrome groups had poor QOL.

Nelson syndrome: definition and management.

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Barber, T M; Adams, E; Wass, J A H

2014-01-01

Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome. © 2014 Elsevier B.V. All rights reserved.

Goldenhar syndrome and urogenital abnormalities

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Mohan Marulaiah

2003-01-01

Full Text Available The Goldenhar syndrome (oculo-auriculo-vertebral syn-drome or 1st and 2nd branchial arch syndrome is a com-plex of craniofacial anomalies. It has been associated with anomalies in other systems and with abnormalities of the urogenital system. We present a case of Goldenhar syn-drome with multiple renal anomalies and a urogenital si-nus, which has not been reported before.

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

Science.gov (United States)

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

2017-10-01

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

A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

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Christina E. Brzezniak

2017-04-01

Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

Spectrum of Features in Pterygium Syndrome

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Sanjay Y. Parashar

2006-04-01

Full Text Available Pterygium syndrome is a complex and rare congenital deformity that consists of contractures involving multiple flexural surfaces and associated craniofacial anomalies. It often has associated conditions, including anomalies of the cardiovascular, respiratory, gastrointestinal and genitourinary systems. It may present in different forms, including multiple pterygium syndrome of Escobar, lethal multiple pterygium syndrome, popliteal pterygium syndrome, lethal popliteal syndrome (Bartsocas-Papas syndrome and arthrogryposis multiplex congenita. The clinical presentation, multidisciplinary management and the long-term outcome in three patients with this condition are presented.

Burnout Syndrome

OpenAIRE

Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

2013-01-01

Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

Noonan syndrome

OpenAIRE

Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

2013-01-01

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

Crohn's Disease Associated with Sweet's Syndrome and Sjögren's Syndrome Treated with Infliximab

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Erina N. Foster

2005-01-01

Full Text Available The association of Crohn's disease (CD and Sweet's syndrome is rare and the presence of Sjögren's syndrome in Crohn's disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn's disease associated with Sweet's syndrome, one of which is the first case of CD and Sweet's concomitantly associated with Sjögren's syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions.

Lumbar dorsal ramus syndrome.

Science.gov (United States)

Bogduk, N

1980-11-15