WorldWideScience

Sample records for cauda equina syndrome

  1. Cauda equina syndrome: the importance of complete multidisciplinary team management.

    Science.gov (United States)

    Shivji, Faiz; Tsegaye, Magnum

    2013-03-15

    A 44-year-old lady with a history of lumbar back pain presented to the emergency department complaining of severe back pain radiating to her buttocks. Positive examination findings were a loss of sensation in the perianal area and 348 ml of retained urine. An urgent MRI showed compression of the cauda equina by a herniated disc. The patient was operated upon that evening, having a lumbar 5/sacral 1 decompression and sequestrectomy. During follow-up, the patient was reviewed by a consultant spinal surgeon, a urologist and our cauda equina nurse at every appointment, as per the cauda equina pathway specifically designed and implemented by our spinal unit. This report shows the complex nature of cauda equina syndrome and broad functional deficit patients can suffer from. It shows the benefits of prompt diagnosis and surgery, together with intensive, multidisciplinary follow-up and treatment, all of which are possible by a specially created, cauda equina protocol.

  2. Lesson of the month 2: Cauda equina in Cushing's syndrome.

    Science.gov (United States)

    Maslin, Douglas; Gounaris, Ioannis; Ng, Kenrick; Corrie, Pippa

    2016-02-01

    We present the case of a 34-year old woman who initially presented with obesity and back pain. She was eventually diagnosed with Cushing's syndrome secondary to an adrenocortical carcinoma that had metastasised to her spine, causing cauda equina compression. The delays in reaching the correct diagnosis caused significant morbidity and exemplify the pitfalls of premature closing, a common cognitive error in diagnostic reasoning.

  3. Postoperative Spinal Epidural Haematoma Causing Cauda Equina Syndrome: Case Report

    Directory of Open Access Journals (Sweden)

    Emre Delen

    2013-08-01

    Full Text Available Cauda equina syndrome is a neurological disorder defined by urinary and/or anal sphincter dysfunction, bilateral sciatica and bilateral motor and sensory deficits. Regarding the etiology, lumbar disc disease, spinal stenosis, tumors, haematomas, fractures, infectious diseases and ankylosing spondylitis are pathologies causing this syndrome. Spinal epidural haematomas are common amongst complications after spinal surgery. However the majority of these cases are asymptomatic, thus having little clinical importance. Symptomatic postoperative spinal epidural haematomas is a serious complication, and in order to prevent permanent neurologic deficit it requires urgent surgical intervention. This article aims to present the case of a patient with a spinal epidural haematoma after spinal stenosis surgery, causing cauda equina syndrome.

  4. Cauda equina syndrome in the dog: radiographic evaluation

    International Nuclear Information System (INIS)

    Dogs with clinical signs typical of cauda equina syndrome require careful evaluation to determine the cause of the disease as this strongly influences choice of treatment. Possible aetiologies include congenital or developmental, inflammatory, traumatic, neoplastic, and degenerative lesions that may involve vertebrae, vertebral joints, intervertebral discs, spinal cord, spinal nerves, or meninges. It must be determined whether clinical signs are due to musculoskeletal or neurological disease before performing special radiographic procedures. Non-contrast radiography permits false-positive diagnosis of obvious degenerative changes involving the L-S disc that may be without clinical signs or permits a false-negative diagnosis due to the failure to appreciate soft tissue lesions not seen radiographically. Special radiographic techniques are recommended and include: (1) stress radiography, (2) discography, and (3) epidural myelography. Evaluation of the results of these studies assists in determining the cause of the cauda equina syndrome and the type of therapy required

  5. Cauda equina syndrome presentation of sacral insufficiency fractures

    Energy Technology Data Exchange (ETDEWEB)

    Muthukumar, T.; Butt, S.H.; Cassar-Pullicino, V.N.; McCall, I.W. [The Robert Jones and Agnes Hunt Orthopaedic Hospital, Department of Radiology, Oswestry, Shropshire (United Kingdom)

    2007-04-15

    Sacral insufficiency fractures are a well recognised cause for low back, buttock and groin pain in the elderly. However, over a 4 year period, four patients have presented with symptoms of cauda equina syndrome, who were found on investigation to have acute sacral insufficiency fracture without any other aetiological spinal abnormality. Four patients who presented to the spinal surgeons of our institution with symptoms of cauda equina syndrome were referred for spinal MR. Sagittal and axial T1 and T2 weighted turbo spin echo sequences of the lower thoracic and lumbar spine were performed on all patients. Subsequent studies included MR of the sacrum supplemented where appropriate by CT and technetium MDP bone scintigraphy. No evidence of a compressive lesion of the lower thoracic or lumbar spine was present in any of the four patients. Dedicated MR examination of the sacrum in these patients revealed unilateral acute insufficiency fractures involving zone 1 from S1 to S3 extending from the sacro-iliac joint to the lateral margin of the sacral foramen. There was no evidence of compression of the sacral nerve roots. The possible mechanism for the symptomatic presentation is discussed. Sacral insufficiency fractures should be excluded in elderly or osteoporotic patients presenting with cauda equina syndrome who have no evidence of compression in the thoraco-lumbar MR studies. (orig.)

  6. Gitelman's syndrome: a rare presentation mimicking cauda equina syndrome.

    LENUS (Irish Health Repository)

    Quinlan, C S

    2012-02-01

    We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman\\'s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation was altered. However, MRI of the lumbar spine was normal. Measurements of serum and urinary potassium were low and blood gas analysis revealed metabolic alkalosis. Her symptoms resolved following potassium replacement. We emphasise the importance of measurement of the plasma and urinary levels of electrolytes in the investigation of patients with paralysis of the lower limbs and suggest that they, together with blood gas analysis, allow the exclusion of unusual causes of muscle weakness resulting from metabolic disorders such as metabolic alkalosis.

  7. Cauda equina syndrome presenting as abdominal pain: a case report.

    LENUS (Irish Health Repository)

    Ellanti, Prasad

    2012-09-01

    Cauda equina syndrome (CES) is an uncommon entity. Symptoms include bowel and bladder dysfunction, saddle anesthesia, and varying degrees of lower limb motor and sensory disturbances. The consequences of delayed diagnosis can be devastating, resulting in bowel and bladder incontinence and lower limb paralysis. There is little in literature regarding abdominal pain as a significant feature of the initial presentation of CES. We present the case of a 32-year-old woman with CES who presented to the emergency department with gradually worsening lower abdominal pain.

  8. The Usefulness of Lumbar Spine MRI for Cauda Equina Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Tae Yong; Baik, Seong Kug [Dept. of Radiology, Pusan National University Yangsan Hospital, Yangsan(Korea, Republic of); Lee, In Sook [Dept. of Radiology and Medical Research Institite, Pusan National University Hosptal, Pusan (Korea, Republic of)

    2011-05-15

    To understand the usefulness of the lumbar MRI studies to establish therapeutic plans for cauda equina syndrome (CES) including the management of rectal and bladder dysfunction symptoms. We retrospectively reviewed the lumbar MRI studies of 10 patients with CES. Their diagnoses included four adhesive arachnoiditis of cauda equina (CE), three conus medullaris atrophies, three spinal canal stenoses, one tuberculous leptomeningitis, one metastatic tumor on the sacral canal, and one dural arteriovenous fistula with venous congestion of the conus medullaris. In 6 of the 10 total cases the symptoms of rectal and bladder dysfunction were resolved by decompression laminectomies (n=2), irradiation (n=1), glue embolization (n=1), anticholine and steroid infusion (n=1), and anti-tuberculous medication (n=1) within at least 5 days. The 4 other cases were settled by lumboperitoneal shunting and neural stem cell implants. The study results indicate that lumbar MRI is the modality of choice in search for the causative lesion and to subsequently set up the best therapeutic plans for patients with CES.

  9. Lumbar disk herniation presented with cauda equina syndrome in a pregnant woman

    Directory of Open Access Journals (Sweden)

    Tayfun Hakan

    2012-01-01

    Full Text Available Despite low back pain being common in pregnancy, cauda equina syndrome is rare. Misdiagnosis and delay in treatment may cause neurological sequelae including urinary and fecal incontinence, sexual dysfunction in patients. A case of cauda equina syndrome in a pregnant woman at 25-week gestation is presented here. The patient underwent an emergency, standard lumbar microdiscectomy under general anesthesia on prone position. Neither the patient nor the baby had any complication related to surgery.

  10. Endoscopic Discectomy for the Cauda Equina Syndrome During Third Trimester of Pregnancy

    OpenAIRE

    Kim, Hyeun Sung; Kim, Seok Won; Lee, Seung Myung; Shin, Ho

    2007-01-01

    Low back pain is common during pregnancy. However, the prevalence of symtomatic lumbar disc herniation is rare, and cauda equina syndrome due to disc herniation during pregnancy is even rarer. We report a rare case of lumbar disc herniation causing cauda equina syndrome during third trimester of pregnancy which successfully treated by endoscopic discectomy. This case shows that endoscopic discectomy can be the treatment option for the lumbar disc herniation during pregnancy.

  11. Apoptosis of lumbar spinal cord neurons in cauda equina syndrome rats

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Objective To explore the law of apoptosis of lumbar spinal cord neurons in cauda equina syndrome (CES). Methods Cauda equina of rats was compressed by a piece of silica gel stick. From day 1 to day 28,the lumbar spinal cord specimens were harvested and assessed by Nissl's staining and TUNEL staining. Results Compression of cauda equina caused lesion and apoptosis of neurons in lumbar spinal cord,and the extent of apoptosis reached the peak on 7th day after compression. Conclusion Apoptosis of neurons in lum...

  12. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    Directory of Open Access Journals (Sweden)

    Al-Otaibi Faisal

    2012-05-01

    Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

  13. A Clinical Observation on the Case of Cauda Equina Syndrome Using Scolopendrid Pharmacopuncture

    OpenAIRE

    Lee Hwi-yong; Cho Yi-hyun; You Jeong-seok; Yook Tae-han; Hong Kwon-eui

    2008-01-01

    Objective : This study was investigated on the Scolopendrid Pharmacopuncture of Caude equina syndrome which has been described as a complex of low back pain, bilateral sciatica, saddle anesthesia and motor weakness in the lower extremity that progress to paraplegia with baldder and bowel incontinence. Methods & Results : Clinical observation was done on Cauda equina syndrome in the Department of Acupuncture & Moxibustion, Woosuk jeonju Oriental Medical Hospital frome May 30 to July 13. The...

  14. Intramedullary Abscess by Staphylococcus aureus Presenting as Cauda Equina Syndrome to the Emergency Department.

    Science.gov (United States)

    Damaskos, Dimitrios; Jumeau, Helene; Lens, François-Xavier; Lechien, Philippe

    2016-01-01

    Cauda equina syndrome (CES) is a rare entity presenting with low back pain, unilateral or bilateral sciatica, motor weakness of lower extremities, sensory disturbance in the perineal area, and urinary and/or faecal incontinence. Those symptoms are secondary to compression of the cauda equina. If not recognized, CES can lead to irreversible disabilities. We report the case of a 77-year-old lady who presented to the emergency department with a ten-day history of back pain as well as urinary incontinence. PMID:27293918

  15. Cauda equina syndrome after spinal anaesthesia in a patient with asymptomatic tubercular arachnoiditis

    Directory of Open Access Journals (Sweden)

    Divya Sethi

    2011-01-01

    Full Text Available A 14-year-old boy underwent emergency debridement surgery of right foot under spinal anaesthesia. Four hours after the surgery, the patient developed symptoms of cauda equina syndrome (CES. Postoperative magnetic resonance imaging of the patient′s spine suggested underlying tubercular arachnoiditis. The boy was started on intravenous methylprednisolone and antitubercular therapy. He responded to the therapy and recovered completely in 2 weeks without any residual neurological deficits. We suggest that underlying pathological changes in the subarachnoid space due to tubercular arachnoiditis contributed to maldistribution of the local anaesthetic drug leading to CES.

  16. A Clinical Observation on the Case of Cauda Equina Syndrome Using Scolopendrid Pharmacopuncture

    Directory of Open Access Journals (Sweden)

    Lee Hwi-yong

    2008-06-01

    Full Text Available Objective : This study was investigated on the Scolopendrid Pharmacopuncture of Caude equina syndrome which has been described as a complex of low back pain, bilateral sciatica, saddle anesthesia and motor weakness in the lower extremity that progress to paraplegia with baldder and bowel incontinence. Methods & Results : Clinical observation was done on Cauda equina syndrome in the Department of Acupuncture & Moxibustion, Woosuk jeonju Oriental Medical Hospital frome May 30 to July 13. The patient was treated with Scolopendrid Pharmacopuncture at Shinsu(B23, Gihaesu(B24, Taejangsu(B25, Gwanweonsu(b26, Dangryo(b31, Charyo(b32, Jang-gang(gv1 and Hoe-eum(cv1 with Oriental Medicine treatment. We evaluated SF-36, the bladder incontinence, bowel incontinence, sensibility by sting skin, before and after treatmeat. Conclusion : 1. At the early time, gait disturbance was treated well, but discomfort of bladder incontinence, bilateral sciatica, saddle anesthesia and motor weakness was remained. 2. The symptoms of Cauada equina syndrome, especially bladder incontinence and bilateral sciatica, was recurred in short duration by scolopendrid Pharmacopuncture and oriental medicine treatment.

  17. A rare cause of Cauda equina syndrome: Epidural high grade primary non-Hodgkin lymphoma

    Directory of Open Access Journals (Sweden)

    Ambarish A Mathesul

    2013-01-01

    Full Text Available Cauda equina syndrome (CES may be caused by herniated disc, tumor, trauma, and spinal infections. However, CES due to epidural high-grade non-Hodgkin lymphoma (NHL is very rare. Up to our knowledge, few cases have been reported in the literature. We report a case of epidural high-grade NHL presenting as CES. A 55-year-old man presented with CES caused by extradural compression by primary NHL. The patient underwent an L4-L5 laminectomy. The operative findings were suggestive of well-demarcated epidural tumor. The final histopathological diagnosis revealed epidural high-grade NHL. NHL causing CES is rare. This report highlights the importance of keeping afresh the various causes of CES for prompt diagnosis and management.

  18. Postoperative cauda equina syndrome in trivial lumbar congenital kyphosis: a case report.

    Directory of Open Access Journals (Sweden)

    Farzad Omidi-Kashani

    2013-11-01

    Full Text Available A 25-year old man presented with chronic low back pain for about 5 years due to mild congenital lumbar kyphosis (L1-L3 25° with congenital posterior wedge vertebra L2. Preoperative neurologic examination was normal. After posterior spinal fusion and instrumentation with moderate curve correction, the patient gradually developed the symptoms and signs of cauda equina syndrome due to intraoperative L2-3 disc herniation. After 5 days the patient underwent posterior decompression surgery and on the latest follow up visit at 2 years later, nearly all the motor power was recovered but the patient complained of occasional urinary incontinence and residual right leg paresthesia. In surgical treatment of congenital kyphosis, much attention should be paid to the presence of contemporaneous asymptomatic disc herniation.

  19. Pacinioma of the cauda equina.

    Science.gov (United States)

    Kojc, Nika; Korsic, Marjan; Popovic, Mara

    2006-12-01

    Lesions composed of Pacinian corpuscles or showing Pacinian corpuscle differentiation have usually been described in relation to benign tumours of the peripheral nervous system or reactive hyperplastic processes. On the other hand, mature Pacinian corpuscles have occasionally been detected as part of intraspinal lumbosacral lipomas, a rare developmental anomaly usually associated with spina bifida. A lesion of the cauda equina composed of numerous mature Pacinian corpuscles and nerve fascicles embedded in adipose tissue in association with spina bifida occulta is described in a 5-month-old male with a sacral red papula. Magnetic resonance imaging (MRI) revealed a cord-like mass in the region of the cauda equina, presumably connected to the subcutis. With the exception of a low lying, tethered spinal cord, there was no neurological deficit and the range of motor development was normal. In March 2005, at 17 months, surgery was carried out. A cord of yellow tissue was found running from the subcutis through the bone defect into the lumbosacral spinal canal. Intradurally, it ran parallel to the cauda equina, terminating at the conus medullaris. Fifteen months after the surgery the development of the child was normal. Only two similar cases have been reported so far. Due to their occurrence in the sacrococcygeal region and association with developmental anomalies, they have been regarded as malformations and the term Pacinioma has been suggested. Our case with clusters of Pacinian corpuscles may represent a rare variant of complex intraspinal lumbosacral lipomas, closely related to Paciniomas reported by Bale.

  20. Pacinioma of the cauda equina.

    Science.gov (United States)

    Kojc, Nika; Korsic, Marjan; Popovic, Mara

    2006-12-01

    Lesions composed of Pacinian corpuscles or showing Pacinian corpuscle differentiation have usually been described in relation to benign tumours of the peripheral nervous system or reactive hyperplastic processes. On the other hand, mature Pacinian corpuscles have occasionally been detected as part of intraspinal lumbosacral lipomas, a rare developmental anomaly usually associated with spina bifida. A lesion of the cauda equina composed of numerous mature Pacinian corpuscles and nerve fascicles embedded in adipose tissue in association with spina bifida occulta is described in a 5-month-old male with a sacral red papula. Magnetic resonance imaging (MRI) revealed a cord-like mass in the region of the cauda equina, presumably connected to the subcutis. With the exception of a low lying, tethered spinal cord, there was no neurological deficit and the range of motor development was normal. In March 2005, at 17 months, surgery was carried out. A cord of yellow tissue was found running from the subcutis through the bone defect into the lumbosacral spinal canal. Intradurally, it ran parallel to the cauda equina, terminating at the conus medullaris. Fifteen months after the surgery the development of the child was normal. Only two similar cases have been reported so far. Due to their occurrence in the sacrococcygeal region and association with developmental anomalies, they have been regarded as malformations and the term Pacinioma has been suggested. Our case with clusters of Pacinian corpuscles may represent a rare variant of complex intraspinal lumbosacral lipomas, closely related to Paciniomas reported by Bale. PMID:17109790

  1. Impact of timing on surgical outcome in patients with cauda equina syndrome caused by lumbar disc herniation.

    Science.gov (United States)

    Bečulić, Hakija; Skomorac, Rasim; Jusić, Aldin; Alić, Fahrudin; Imamović, Melica; Mekić-Abazović, Alma; Efendić, Alma; Brkić, Harun; Denjalić, Amir

    2016-08-01

    Aim To analyze the relationship between timing of surgery and outcome in patients with cauda equina syndrome caused by lumbar disc herniation. Methods A retrospective, non-randomized clinical study included 25 consecutive patients with cauda equina syndrome (CES) caused by lumbar disc herniation. All patients were operated within 24 hours after hospitalization at the Department of Neurosurgery, Cantonal Hospital Zenica, Bosnia and Herzegovina, between January 2000 and December 2010. All patients were evaluated before surgery on the basis of complete history, neurological examination and neuroimaging evaluations using CT (computed tomography)and MRI (magnetic resonance imaging). Results Statistically significant difference between preoperative and postoperative bladder (p=0.05) and bowel (p=0.05) function was found. A significant number of patients had bladder and bowel recovery after surgery, nine (36%) and 11 (44%), respectively. Significant recovery of muscle strength was noted with complete recovery(5/5) in 12 (48%) and partial recovery in 13 (52%) patients. Complete sensory recovery was noted in 16 (64%), incomplete in four (16%), and in five (20%) patients there were no changes. Most commonly, patients with complete sensory recovery were operated within 48 hours of symptom onset. In most patients early surgery was associated with better outcome. Conclusion This research showed that early decompression correlated with better outcome. Patients with cauda equina syndrome must be cleared for surgery in optimal conditions and, if it possible within optimal timing for recovery (within 48 hours). PMID:27452326

  2. Ectopic ganglion in cauda equina: case report.

    Science.gov (United States)

    Conner, Andrew K; Fung, Kar-Ming; Peterson, Jo Elle G; Glenn, Chad A; Martin, Michael D

    2016-06-01

    Macroscopic ectopic or heterotopic ganglionic tissue within the cauda equina is a very rare pathological finding and is usually associated with spinal dysraphism. However, it may mimic genuine neoplasms of the cauda equina. The authors describe a 29-year-old woman with a history of back pain, right leg pain, and urinary incontinence in whom imaging demonstrated an enhancing mass located in the cauda equina at the L1-2 interspace. The patient subsequently underwent biopsy and was found to have a focus of ectopic ganglionic tissue that was 1.3 cm in greatest dimension. To the authors' knowledge, ectopic or heterotopic ganglionic tissue within the cauda equina in a patient without evidence of spinal dysraphism has never been reported. This patient presented with imaging and clinical findings suggestive of a neoplasm, and an open biopsy proved the lesion to be ectopic ganglionic tissue. The authors suggest that ectopic ganglionic tissue be added to the list of differential diagnoses of a space-occupying lesion arising from the cauda equina. PMID:26871650

  3. Cauda Equina Neuritis: A Chronic Idiopathic Polyneuritis in Two Horses

    OpenAIRE

    Rousseaux, C. G.; Futcher, K. G.; Clark, E G; Naylor, J M

    1984-01-01

    Two cases of cauda equina neuritis are compared and contrasted. Neurological deficits of the tail and perineum were noted and functional deficits were seen in gait, urination, defecation and cranial nerve function. Lesions consisted of nonsuppurative inflammation of the nerve trunks and proliferation of the perineurium of the cauda equina. Cranial nerve involvement in one case supported a diagnosis of polyneuritis equi rather than cauda equina neuritis. The possible etiologies and pathogenesi...

  4. Adhesive arachnoiditis causing cauda equina syndrome in ankylosing spondylitis: CT and MRI demonstration of dural calcification and a dorsal dural diverticulum

    Energy Technology Data Exchange (ETDEWEB)

    Bilgen, I.G.; Yunten, N.; Ustun, E.E. [Ege Univ., Dept. of Radiology, Izmir (Turkey); Oksel, F.; Gumusdis, G. [Ege Univ., Dept. of Rheumatology, Izmir (Turkey)

    1999-07-01

    We present the radiological features of a 42-years-old man with long-standing inactive ankylosing spondylitis (AS), demonstrating that arachnoiditis is a cause of a cauda equina syndrome (CES) in this disease. CT showed a dorsal arachnoid diverticulum causing scalloped erosion of the laminae, and punctate and curvilinear dural calcification. MRI revealed adhesion and convergence of the cauda equina dorsally into the arachnoid pouch, causing the dural sca to appear empty canal. To the best of our knowledge, dural calcification on CT is a new finding in AS, which may be related to the CES. Our findings support the hyopthesis that chronic adhesive arachnoiditis with subsequent loss of meningeal elasticity may be the main cause of CES in AS. (orig.)

  5. Leukemic meningitis involving the cauda equina: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Dong Hyun; Kim, Ho Kyun; Lee, Young Hwan [School of Medicine, Catholic University of Daegu, Daegu (Korea, Republic of)

    2008-07-15

    The CNS involvement by leukemia may either be meningeal or parenchymal, although meningeal infiltration of leukemic cells, known as leukemic meningitis is more common. We report a case of leukemic meningitis involving the cauda equina in a patient with an acute lymphoblastic crisis which transformed from the chronic phase of chronic myeloid leukemia. An MR image revealed diffuse enlargement and peripheral ring enhancement of the nerve roots of the cauda equina.

  6. Hydraulic spinal cord and cauda equina nerve injuries

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Hydraulic spinal cord and cauda equina nerve injuries are very uncommon. Since 19 96, we have received and treated 4 patients with hydraulic spinal cord and cauda equina injuries. This report gives a detail description. Four patients with hydraulic spinal cord and cauda equina nerve injuries, male: 3, female: 1, aging 13-56 years have been treated in our hospital since 1996. E xtradural blocking injury was in 1 patient, extradural anaesthesia injury in 1 p atient and intraspinal canal myelography injury in 2 patients; the segments of i ntraspinal canal were L2-3 and L3-4. One patient was accompanied b y femoral fracture, 2 patients by intraspinal tumor and 1 patient had operat ion because of prolapse of lumbar intervertebral disc.

  7. Large animal models of human cauda equina injury and repair: evaluation of a novel goat model

    OpenAIRE

    Wen-tao Chen; Pei-xun Zhang; Feng Xue; Xiao-feng Yin; Cao-yuan Qi; Jun Ma; Bo Chen; You-lai Yu; Jiu-xu Deng; Bao-guo Jiang

    2015-01-01

    Previous animal studies of cauda equina injury have primarily used rat models, which display significant differences from humans. Furthermore, most studies have focused on electrophysiological examination. To better mimic the outcome after surgical repair of cauda equina injury, a novel animal model was established in the goat. Electrophysiological, histological and magnetic resonance imaging methods were used to evaluate the morphological and functional outcome after cauda equina injury and ...

  8. [Cauda equina hemisyndrome after intradural anesthesia with bupivacaine for hip surgery].

    Science.gov (United States)

    López-Soriano, F; Lajarín, B; Verdú, J M; Rivas, F; López-Robles, J

    2002-11-01

    A 68-year-old man underwent hip surgery under subarachnoid anesthesia with bupivacaine and fentanyl to replace an acetabular component. Two days after surgery the patient developed unilateral cauda equina syndrome, affecting five nerve roots (L4 to S3), with no sphincter involvement. Two and a half years later, the lesion had become permanent. We discuss the possible origin of the condition, suggesting differential diagnoses such as mechanical problems (position-mobilization) and anesthetic toxicity. PMID:12516495

  9. Surgical Treatment of Lumbar Disc Herniation Combined with Cauda Equina Syndrome%腰椎间盘突出合并马尾神经损伤的外科治疗

    Institute of Scientific and Technical Information of China (English)

    许崧杰

    2011-01-01

    Objective To explore the mechanism, treatment and prognosis of lumbar disc herniation with cauda equina syndrome. Method Eighteen lumbar disc herniation cases with cauda equina syndrome were performed decompressive operation 7 days after developing symptoms. Results 18 cases were followed up for 3. 1 years averagely. Low back pain was recovered completely. Strength of lower extremity was improved partially in 16 cases and not improved in 2 cases. Function of sphincter was still bad. Conclusions Lumbar disc herniation with cauda equina syndrome is an absolute indication of operation. Once diagnosed, decompression must be performed as soon as possible.%目的 探讨腰椎间盘突出症伴马尾神经综合征的发病机制、治疗及预后.方法 回顾性分析18例腰椎间盘突出症伴马尾神经综合征病例,均在出现症状7 d后行手术减压治疗.结果 术后平均随访3.1年,所有患者腰痛全部恢复,下肢肌力部分恢复16例,未恢复2例,但括约肌功能障碍无明显改善.按Masato标准评价疗效:好转8例,差10例.结论 腰椎间盘突出症伴马尾神经综合征是手术的绝对适应证,一经明确诊断必须尽早手术,以抢救神经功能.

  10. Ependimoma de cauda equina com metastases à distancia

    Directory of Open Access Journals (Sweden)

    Sonia Maria Lima

    1975-09-01

    Full Text Available É relatado um caso de ependimoma da cauda equina com metástases fora do sistema nervoso central, em uma criança do sexo feminino, com 1 ano e 4 meses de idade, confirmado mediante exame necroscópico completo. As metástases se localizaram no fígado, nos pulmões e em linfonodos inguinais. Os ependimomas representam o tipo de glioma mais frequente nessa região; entretanto, esses tumores dão metástases muito raramente. Revisando a literatura foram encontrados seis casos.

  11. Large animal models of human cauda equina injury and repair:evaluation of a novel goat model

    Institute of Scientific and Technical Information of China (English)

    Wen-tao Chen; Bao-guo Jiang; Pei-xun Zhang; Feng Xue; Xiao-feng Yin; Cao-yuan Qi; Jun Ma; Bo Chen; You-lai Yu; Jiu-xu Deng

    2015-01-01

    Previous animal studies of cauda equina injury have primarily used rat models, which display signiifcant differences from humans. Furthermore, most studies have focused on electrophysio-logical examination. To better mimic the outcome after surgical repair of cauda equina injury, a novel animal model was established in the goat. Electrophysiological, histological and magnetic resonance imaging methods were used to evaluate the morphological and functional outcome after cauda equina injury and end-to-end suture. Our results demonstrate successful establish-ment of the goat experimental model of cauda equina injury. This novel model can provide detailed information on the nerve regenerative process following surgical repair of cauda equina injury.

  12. The role of surgical decompression of Cauda equina in lumbar disc herniation in recovery of bladder function

    Directory of Open Access Journals (Sweden)

    Radulović Danilo

    2004-01-01

    Full Text Available INTRODUCTION Cauda equina syndrome from lumbar disc herniation accounts for up to 2-3% of all disc herniations. The aim of this study was to investigate whether recovery of bladder function after surgery depends on preoperative duration of disease. Patients and methods This retrospective study included 47 patients who underwent surgery for cauda equina syndrome due to a herniated disc in the period between 1997 and 2002. Eleven patients were female and 36 male, with a mean age of 43 years (range 23-67. All presented with sciatica and saddle hypoesthesia, whereas 13 presented with motor weakness of legs. All patients had been catheterized at the time of admission to the Neurosurgical unit. Levels of herniation were L4-L5 in 27 (57%, L5-S1 in 14 (30%, and L3-L4 in 6 (13% patients. In 7 (15% patients, surgery was performed within 48 hours of the cauda equina syndrome onset. None underwent surgery within 24 hours. 13 (28% patients were operated between the 2nd and 7th day and 27 (57% after 7th day of the cauda equina onset. The role of preoperative duration of symptoms in recovery of bladder function was examined (chi 2 analysis. RESULTS The follow-up ranged from 15 to 74 months (mean 24.2 months. In 33 patients (70% excellent result were achieved, in 9 (19% patients good results and 5 (11% patients presented with poor results. There was no statistically significant difference concerning the time between the onset of symptoms and surgical decompression and subsequent recovery of bladder function (p>0.05. CONCLUSION After accurate diagnosis and adequate operative treatment, postoperative results of cauda equina syndrome due to lumbar disc herniation appear satisfactory regardless of the timing of surgery.

  13. 硫化氢对急性马尾神经损伤模型大鼠的神经保护作用%Neuroprotective effects of hydrogen sulfide in rats with acute cauda equina syndrome

    Institute of Scientific and Technical Information of China (English)

    傅智轶; 刘兴振; 吴玉杰; 朱彤; 金文杰

    2014-01-01

    背景:研究发现内源性硫化氢可以作为一种新型气体信号分子,具有重要的信号传递功能和生物调节作用。目的:研究硫化氢对急性马尾神经损伤大鼠的神经保护作用。方法:将72只SD大鼠随机均分为3组,实验组、模型组咬除L4椎板,将长10 mm、厚1.0 mm、宽1.0 mm的硅胶条植入大鼠L5和L6椎管内,建立大鼠马尾神经压迫损伤模型;假手术组仅咬除L4椎板,未植入硅胶条;实验组造模前1 h腹腔注射20μmol/kg的NaHS,模型组与假手术组腹腔注射等量生理盐水。造模后12,24,48,72 h检测马尾神经组织中丙二醛和谷胱甘肽水平,同时在48 h取材进行苏木精-伊红染色和TUNEL染色。结果与结论:苏木精-伊红染色显示,假手术组马尾神经纤维致密有序,髓鞘完整,轴突无肿胀;模型组马尾神经纤维松散,脱髓鞘改变,部分轴突及髓鞘肿胀;实验组马尾神经纤维紧密,少量轴突肿胀、脱髓鞘改变。TUNEL染色显示,假手术组中脊髓和背根神经节组织中阳性细胞数量较少,模型组脊髓和背根神经节中可见大量阳性细胞,实验组阳性细胞数量显著低于模型组。假手术组、实验组丙二醛水平低于模型组(P <0.05, P <0.01),谷胱甘肽水平高于模型组(P <0.05,P <0.01)。表明硫化氢可以降低氧化应激反应,保护急性损伤大鼠马尾神经。%BACKGROUND:Endogenous hydrogen sulfide can be used as a new gaseous signaling molecule, and has important signal transfer function and biological regulation effects. OBJECTIVE:To study the neuroprotective effects of hydrogen sulfide in rats with acute cauda equina syndrome. METHODS: The 72 Sprague-Dawley rats were randomly assigned to three groups. Experimental group, model group: laminectomy was performed at the lumbar 4 (L4) level of the vertebra, and a piece of silicone (10 mm long, 1 mm thick, and 1 mm wide) was placed under the

  14. Magnetic resonance imaging of racemous cysticercosis of the cauda equina

    International Nuclear Information System (INIS)

    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)

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

    Energy Technology Data Exchange (ETDEWEB)

    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)

  16. THE EXPRESSION OF BCL-2, BAX AND CASPASE-3 IN NEURON OF THE SPINAL CORD ANTERIOR HORN AFTER CAUDA EQUINA ACUTE COMPRESSION

    Institute of Scientific and Technical Information of China (English)

    王栋; 王展; 李浩鹏; 贺西京

    2006-01-01

    Cauda equina syndrome(CES)is common inclinic,and acute CES are difficult to recover.So,it s very i mportant to i mprove the treat ment ofCES.The study of nerve was turned fromthe si m-ple nerve shift injury research to the neuron changeafter the axon injury.Peripheral nerve injury cancause their central neuron apoptosis was confir medby experi ment,but rare report was observed withthe motor neuron change after the cauda equina in-jury.The present studies want to set the acute CESani mal model and observe th...

  17. Giant malignant peripheral nerve sheath tumor with cauda equina syndrome and subarachnoid hemorrhage: Complications in a case of type 1 neurofibromatosis.

    Science.gov (United States)

    Patil, Tushar B; Singh, Maneesh Kumar; Lalla, Rakesh

    2015-01-01

    Type 1 neurofibromatosis (NF1), which mainly involves ectodermal tissue arising from the neural crest, can increase the risk of developing malignant peripheral nerve sheath tumors (MPNSTs), soft tissue sarcomas and subarachnoid hemorrhage. We describe a patient with neurofibromatosis type 1 who developed soft tissue sarcoma, MPNST, and subarachnoid hemorrhage. A 22-year-old male reported right focal seizures consequence to severe headache. He had a weakness in both legs, could walk only with the support of a stick for the last 3 months and suffered from constipation and intermittent urinary retention for the past 1 week. The patient had a history of swelling in the back of left thigh for which surgical resection was done 6 months back. Cutaneous examination revealed multiple nodules of varying sizes all over the body, along with many café-au-lait spots and Lisch nodule in iris. Patient had weakness in bilateral hip abduction, extension, knee flexion, extension and ankle dorsiflexion and plantiflexion. Bilateral ankle reflexes were absent while other deep tendon reflexes were sub-optimal. A noncontrast computed tomography brain indicated subarachnoid hemorrhage in left perisylvian region. Ultrasound of left thigh showed a hypoechoic solid lesion in the posterior aspect of left thigh in muscle plane. Histopathology of the lesion following resection showed features suggestive of a low-grade pleomorphic rhabdomyosarcoma. Histology of cutaneous nodules was consistent with neurofibroma. Magnetic resonance imaging of the lumbosacral spine demonstrated a tumor arising from cauda equina. Histopathological examination of the tumor suggested high-grade MPNST. Unfortunately, the patient's MPNST was inoperable, and he received palliative radiotherapy for local control of the disease. The care of a patient with neurofibromatosis requires a comprehensive multisystem evaluation. MPNST occurs in 8-13% patients with neurofibromatosis. Early diagnosis and surgical resection are key

  18. Giant Cauda Equina Schwannoma with Dystrophic Calcifications : Case Report and Review of the Literature

    OpenAIRE

    Hyun, Seung-Jae; Rhim, Seung-Chul

    2012-01-01

    Giant spinal schwannoma of the cauda equine involving many nerve roots is rare, and ossification is usually not observed in the schwannoma. A 21-year-old man presented with a 12-month history of urinary dysfunction and numbness below the buttocks. Plain radiography showed scalloping of the posterior surface of the vertebral bodies from L4 to the sacrum, and magnetic resonance imaging and computed tomography revealed a giant cauda equina tumor with dystrophic calcification. The tumor was compl...

  19. Ependimoma de cauda equina com metastases à distancia Ependymoma of the cauda equina with distant metastases: a case report with review of the literature

    Directory of Open Access Journals (Sweden)

    Sonia Maria Lima

    1975-09-01

    Full Text Available É relatado um caso de ependimoma da cauda equina com metástases fora do sistema nervoso central, em uma criança do sexo feminino, com 1 ano e 4 meses de idade, confirmado mediante exame necroscópico completo. As metástases se localizaram no fígado, nos pulmões e em linfonodos inguinais. Os ependimomas representam o tipo de glioma mais frequente nessa região; entretanto, esses tumores dão metástases muito raramente. Revisando a literatura foram encontrados seis casos.A case of a papillary ependymoma of the spinal cord (cauda equina with metastatic dissemination outside the central nervous system is reported. The patient was a one year old female child who died of pulmonary infection. Metastases were found in the liver, lungs and inguinal lymph nodes. Ependymoma is the most frequent type of glioma found in the cauda equina but metastatic dissemination is a rare occurrence. Only six cases have been recorded in the literature.

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

    International Nuclear Information System (INIS)

    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

  1. Episodic cauda equina compression from an intradural lumbar herniated disc: a case of ‘floppy disc’

    OpenAIRE

    Nagaria, J; Chan, CC; Kamel, MH; McEvoy, L; Bolger, C.

    2011-01-01

    Intradural disc herniation (IDDH) is a rare complication of intervertebral disc disease and comprises 0.26-0.30% of all herniated discs, with 92% of them located in the lumbar region (1). We present a case of IDDH that presented with intermittent symptoms and signs of cauda equina compression. We were unable to find in the literature, any previously described cases of intermittent cauda equina compression from a herniated intradural disc fragment leading to a “floppy disc syndrome”.

  2. Cauda equina cavernous angioma presenting as acute low back pain and sciatica. A report of two cases and literature review.

    Science.gov (United States)

    Khalatbari, M R; Hamidi, M; Moharamzad, Y; Taheri, B

    2011-08-31

    Spinal cavernous angiomas are rare vascular lesions occurring mainly in the vertebral bodies extending secondary into the extradural space. Only 3% of these lesions are intradural, usually localized within the spinal cord. Rarely, cavernous angioma has been reported to occur in the cauda equina. We describe clinical, diagnostic imaging, and surgical procedures of two cases of cavernous angioma of the cauda equina who presented with acute back pain and sciatica. The relevant literature is also reviewed. PMID:24059723

  3. Measurements on the lumbosacral junction in normal dogs and those with cauda equina compression

    International Nuclear Information System (INIS)

    Comparative measurements on lateral plain radiographs of the lumbosacral junction in neutral position, in flexion, and in extension, were made of 41 clinically and radiographically normal dogs (21 German shepherd dogs [GSDs], 12 Bernese mountain dogs, eight labrador retrievers) and 58 GSDs with clinical signs of cauda equina compression due to malformation and, or, malarticulation. The comparison of these measurements between sexes, between normal and affected GSDs and between normal GSDs and the two other breeds of dogs showed several statistically significant results. One was that the affected GSDs showed a reduced flexion ability at this junction compared to the normal ones. However, no difference was observed in the degree of sub-luxation of the sacrum between normal and affected GSDs. It was concluded that plain radiographs of the lumbosacral junction in flexion could help in determining a reduced flexion ability, which could be a characteristic of the GSD with cauda equina compression

  4. Ganglioneuromatous paraganglioma of the cauda equina--a pathological case study.

    Science.gov (United States)

    Pytel, Peter; Krausz, Thomas; Wollmann, Robert; Utset, Manuel F

    2005-04-01

    This study presents a rare case of compound paraganglioma/ganglioneuroma with comprehensive immunohistochemical studies that reveal strong cytokeratin expression in all components. A 74-year-old woman presented with a mass lesion of the cauda equina. The 1.8-cm tumor showed 3 histomorphologically and immunohistochemically distinct components: typical paragangliomatous neuroendocrine areas, mature ganglion cell-like neuronal areas, and a "neuromatous" proliferation of Schwann cells with admixed axons. As often seen in cauda equina paragangliomas, the neuroendocrine cells were cytokeratin-positive. In addition, immunoreactivity for cytokeratins was also observed in the neurons and axons. This tumor illustrates the broad spectrum of divergent differentiation that can be seen in cells of sympathoadrenal lineage.

  5. Redundant Nerve Roots of Cauda Equina Mimicking Intradural Disc Herniation: A Case Report

    OpenAIRE

    Yang, Sang Mi; Park, Hyung Ki; Cho, Sung Jin; Chang, Jae Chil

    2013-01-01

    Redundant Nerve Roots (RNRs) is an uncommon clinical condition characterized by a tortuous, serpentine, large and elongated nerve root of the cauda equina. To our knowledge, most cases of RNRs are associated with lumbar stenosis, and RNRs associated with lumbar disc herniation has not been reported until now. Here we present a rare case of unusual RNRs associated with lumbar disc herniation mimicking intradural disc herniation.

  6. 腰椎间盘突出症致马尾神经综合征手术时机的临床研究%Timing of surgery for cauda equina syndrome due to lumbar disc herniation: a clinical analysis

    Institute of Scientific and Technical Information of China (English)

    吴建锋; 贾连顺; 李家顺; 史建刚; 邵将

    2011-01-01

    [Objective] To analyze the impact of the timing of surgical intervention on the clinical outcome of cauda equina syndrome (CES) following surgery for herniated lumbar discs. [ Methods] The clinical data on 148 patients with CES following operation for lumbar disc herniation were collected. In 65 of the patients (treatment group), sensory assessment in the saddle area and measurement of the changes in anal sphincter resting and contraction pressure gradient were carried out to evaluate the severity of cauda equina injuries prior to surgical intervention, and subsequent emergency surgery (within 24 h after CES onset), surgery within 48 h or elective surgery were performed accordingly. The other 83 patients received early surgical interventions upon diagnosis of CES without preoperative assessments (control group) . The postoperative complications and clinical outcomes were compared between the two groups. [ Results ] The incidence of postoperative complications showed no significant difference between the treatment and control groups (3. 1 % vs 6. 0% , P > 0. 05) . The Oswestry Disability Index (ODI) scores underwent significant changes at 3 and 18 months after the surgery in both groups ( P 0. 05) . The follow - up examination at 18 months showed better recovery of the urinary functions in the treatment group than in the control group (P < 0.05 ) . [ Conclusion ] Instead of the arbitrary timing simply according to the time of CES onset, the decision on the timing of surgical intervention of CES can be made based on sensory assessment of the saddle area and anal sphincter pressure gradient changes in the patients.%[目的]探讨腰椎间盘突出症致马尾神经综合征手术时机的选择.[方法]回顾性分析148例腰椎间盘突出症致马尾神经综合征患者临床资料,根据术前是否进行鞍区感觉评分及肛门括约肌压力测量分为治疗组(65例)和对照组(83例).治疗组进行鞍区感觉评分,测量肛门括约肌静息压力及

  7. Traumatic transverse fracture of sacrum with cauda equina injury--a case report and review of literature.

    Directory of Open Access Journals (Sweden)

    Singh H

    1998-01-01

    Full Text Available Fractures of the sacrum are rare and generally associated with fracture of the pelvis. Transverse fractures of the sacrum are even less frequent and neurological deficit may accompany these fractures. A case of transverse fracture sacrum with cauda equina injury treated by sacral laminectomy and root decompression, is reported.

  8. Cauda equina repair in the rat: part 1. Stimulus-evoked EMG for identifying spinal nerves innervating intrinsic tail muscles.

    Science.gov (United States)

    Blaskiewicz, Don J; Smirnov, Igor; Cisu, Tudor; DeRuisseau, Lara R; Stelzner, Dennis J; Calancie, Blair

    2009-08-01

    Cauda equina injuries may produce severe leg and pelvic floor dysfunction, for which no effective treatments exist. We are developing a rat cauda equina injury model to allow nerve root identification and surgical repair. One possible difficulty in implementing any repair strategy after trauma in humans involves the correct identification of proximal and distal ends of nerve roots separated by the injury. Two series of studies were carried out. In Series 1, we electrically stimulated segmental contributors to the dorsal and ventral caudales nerves in order to characterize the recruitment patterns of muscles controlling rat tail movements. In Series 2, we attempted to identify individual nerve roots forming the cauda equina by both level of origin and function (i.e., dorsal or ventral), based solely upon the recruitment patterns in response to electrical stimulation. For Series 1 studies, electrical stimulation of the segmental contributors showed that all nerve roots-from the sixth lumbar to the first coccygeal-contributed to recruitment of muscles found at the base of the tail. Intrinsic tail muscles lying more distally in the tail showed a more root-specific pattern of innervation. For Series 2, the rate of successful identification of an unknown nerve root as being ventral was very high (>95%), and only somewhat lower (approximately 80%) for dorsal roots. Correctly identifying the level of origin of that root was more difficult, but for ventral roots this rate still exceeded 90%. Using the rat cauda equina model, we have shown that stimulus-evoked EMG can be used to identify ventral nerve roots innervating tail muscles with a high degree of accuracy. These findings support the feasibility of using this conceptual approach for identifying and repairing damaged human cauda equina nerve roots based on stimulus-evoked recruitment of muscles in the leg and pelvic floor. PMID:19203211

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

    Directory of Open Access Journals (Sweden)

    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.

  10. Automutilação devido à compressão da cauda eqüina em três cães e um gato Self-mutilation in three dogs and one cat with cauda equina compression

    Directory of Open Access Journals (Sweden)

    Cynthia Mary Gomes Lagedo

    1999-03-01

    Full Text Available O presente trabalho relata a ocorrência de dermatite prurítica acral e automutilação da cauda e região genitocrural em três cães e um gato que sofriam compressão de raízes nervosas da cauda eqüina. O diagnóstico foi realizado através dos sinais clínicos e por meio de exames radiográficos. O tratamento consistiu na descompressão cirúrgica da cauda eqüina, através de laminectomia dorsal, conseguindo-se com A mesmA, a remissão total das automutilações e perseguições da cauda, com cicatrização das lesões auto-infligidas.This paper describes the occurrence of acral pruritic dermatitis and self-mutilation of the tail, hindlimbs and genitalia areas in three dogs and one cat with compression of the cauda equina nerve roots. The diagnostic was carried out by clinical signs and radiological studies. The treatment was based upon the surgical decompression of the cauda equina by the dorsal laminectomy. The surgical treatment led to the total remission of the self-mutilation, tail persecution and the self-inflicted lesions.

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

    Energy Technology Data Exchange (ETDEWEB)

    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

  12. Edema formation in spinal nerve roots induced by experimental, graded compression. An experimental study on the pig cauda equina with special reference to differences in effects between rapid and slow onset of compression.

    Science.gov (United States)

    Olmarker, K; Rydevik, B; Holm, S

    1989-06-01

    Edema formation in spinal nerve roots of the pig cauda equina was studied following experimental compression at various pressure levels, durations, and rates of onset, using a fluorescence microscopic technique. The time-pressure thresholds for the occurrence of edema in the nerve roots were: following rapid onset of compression (0.05-0.1 seconds), 2 minutes at both 50 mm Hg and 200 mm Hg, and following slow onset of compression (the pressure was slowly increased during 15-20 seconds), 2 hours at 50 mm Hg and 2 minutes at 200 mm Hg. Generally, the edema formation was more pronounced after rapid than after slow onset of compression. The data in this study also indicate that intraneural edema might be more easily formed in nerve roots than in peripheral nerves after compression injury. PMID:2546258

  13. Síndrome da cauda flácida em cão da raça labrador retriever: primeiro relato no Brasil Limber syndrome in a labrador retriever dog: first report in Brazil

    Directory of Open Access Journals (Sweden)

    Maria Lígia Mistieri

    2006-02-01

    Full Text Available A síndrome da cauda flácida é uma enfermidade que acomete cães de caça, principalmente Labradores Retriever e do grupo Pointer. Embora sua etiologia não esteja totalmente definida, sabe-se que sua ocorrência é precedida de esforço físico extenuante, exposição ao frio ou água fria e confinamento em caixas de transporte. O presente trabalho descreve o caso de um cão da raça Labrador Retriever, macho não castrado, de quatro anos de idade que apresentou súbita dor e flacidez da cauda após banho frio. Fratura vertebral, síndrome da cauda eqüina, outras enfermidades da medula espinhal ou de glândulas adanais e afecções prostáticas foram descartadas após exames auxiliares. A divulgação deste relato é relevante uma vez que esta síndrome ainda não foi descrita no Brasil.Limber syndrome is a disease that occurs in hunting dogs, commonly Labrador retriever and in dogs that belong to the group of Pointer. The aetiology is still unknown, but its occurrence is prior to extenuating exercises, cold exposure and cold water and transport jail maintenance. This article describes the case of a 4-year-old-intact-male Labrador Retriever that suddenly developed tail pain and limberness after cold bath. It was possible to exclude vertebral fracture, cauda equina syndrome, spinal cord or adanal gland injuries and prostatic disease as the auxiliary evaluations were made. This publication is important because there are no reports of Limber syndrome in Brazil.

  14. Long-term effects of a lumbosacral ventral root avulsion injury on axotomized motor neurons and avulsed ventral roots in a non-human primate model of cauda equina injury.

    Science.gov (United States)

    Ohlsson, M; Nieto, J H; Christe, K L; Havton, L A

    2013-10-10

    Here, we have translated from the rat to the non-human primate a unilateral lumbosacral injury as a model for cauda equina injury. In this morphological study, we have investigated retrograde effects of a unilateral L6-S2 ventral root avulsion (VRA) injury as well as the long-term effects of Wallerian degeneration on avulsed ventral roots at 6-10 months post-operatively in four adult male rhesus monkeys. Immunohistochemistry for choline acetyl transferase and glial fibrillary acidic protein demonstrated a significant loss of the majority of the axotomized motoneurons in the affected L6-S2 segments and signs of an associated astrocytic glial response within the ventral horn of the L6 and S1 spinal cord segments. Quantitative analysis of the avulsed ventral roots showed that they exhibited normal size and were populated by a normal number of myelinated axons. However, the myelinated axons in the avulsed ventral roots were markedly smaller in caliber compared to the fibers of the intact contralateral ventral roots, which served as controls. Ultrastructural studies confirmed the presence of small myelinated axons and a population of unmyelinated axons within the avulsed roots. In addition, collagen fibers were readily identified within the endoneurium of the avulsed roots. In summary, a lumbosacral VRA injury resulted in retrograde motoneuron loss and astrocytic glial activation in the ventral horn. Surprisingly, the Wallerian degeneration of motor axons in the avulsed ventral roots was followed by a repopulation of the avulsed roots by small myelinated and unmyelinated fibers. We speculate that the small axons may represent sprouting or axonal regeneration by primary afferents or autonomic fibers. PMID:23830908

  15. MR imaging in Guillain-Barre syndrome

    Energy Technology Data Exchange (ETDEWEB)

    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.

  16. Non-Classical Hodgkin's Lymphoma Presenting As Cauda Equina Syndrome-a Rare presentation: One Case Report

    Institute of Scientific and Technical Information of China (English)

    Pradipta Guha; Debasis Sarkar; Indranil Thakur; Partha Sardar; Sekhar Mukherjee; Sanjoy Kumar Chatterjee

    2010-01-01

    @@ Introduction Nodular lymphocyte predominant Hodgkin's disease occurs in 5% of all cases of Hodgkin's disease. It occurs more commonly in male. Only 5% of all Hodgkin's lymphoma cases develop spinal cord compression[1] and in only 0.2% cases, spinal cord compression occurs as the initial presentation[2]. So our case is rare both in the form of the unique variety of Hodgkin's disease and also in the form of presentation.

  17. THE ROLE OF LIGAMENTUM FLAVUM CALCIFICATION AT LUMBAR SPINE CAUSING CAUDA EQUINA SYNDROME AND LUMBAR RADICULOPATHY: CASE REPORT

    Directory of Open Access Journals (Sweden)

    Gajanan

    2013-10-01

    Full Text Available ABSTRACT: The focal calcification or ossification of ligamentum flavum is a rare cau se of thoracic myelopathy and most often occurs among individuals of Japanese descent. It is rare in other ethnic groups and in individuals below the age of 50 year. It is most often described at the lower thoracic level, being uncommon in the lumbar regio n and rare in the cervical region. Here, we present the case of a 40 - year - old Indian female patient who sought medical attention with a six month history of paraesthesia of the lower limbs and progressive difficulty in walking. The clinical profile, togeth er with computed tomography and magnetic resonance imaging of the spine, led to a diagnosis of compressive lumbar myelopathy due to ossification of the ligamentum flavum of lumbar spine. The patient underwent laminectomy and dissection of some of the affec ted ligamentum flavum. After three months of clinical follow - up, the patient had progressed favorably , having no sensory complaints and again becoming ambulatory

  18. 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

    Directory of Open Access Journals (Sweden)

    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.

  19. 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.

  20. Chronic inflammatory demyelinating polyneuropathy mimicking a lumbar spinal stenosis syndrome.

    OpenAIRE

    Ginsberg, L; Platts, A. D.; Thomas, P K

    1995-01-01

    A patient with chronic inflammatory demyelinating polyneuropathy (CIDP) established by biopsy developed cauda equina symptoms due to swelling of the nerve roots in the lumbar spinal canal. Magnetic resonance imaging of the lumbar spine showed profoundly thickened nerve roots from the level of the conus medullaris, filling the caudal thecal sac. Immunosuppressant treatment produced partial clinical and radiological resolution. This case shows that spinal compressive syndromes may occur in acqu...

  1. Giant malignant peripheral nerve sheath tumor with cauda equina syndrome and subarachnoid hemorrhage: Complications in a case of type 1 neurofibromatosis

    OpenAIRE

    Tushar B Patil; Singh, Maneesh Kumar; Lalla, Rakesh

    2015-01-01

    Type 1 neurofibromatosis (NF1), which mainly involves ectodermal tissue arising from the neural crest, can increase the risk of developing malignant peripheral nerve sheath tumors (MPNSTs), soft tissue sarcomas and subarachnoid hemorrhage. We describe a patient with neurofibromatosis type 1 who developed soft tissue sarcoma, MPNST, and subarachnoid hemorrhage. A 22-year-old male reported right focal seizures consequence to severe headache. He had a weakness in both legs, could walk only with ...

  2. Síndrome de cauda equina por hernia discal gigante

    OpenAIRE

    Barriga, A.; Villas, C.

    2002-01-01

    La aparición de forma aguda o rápidamente progresiva de un cuadro de ciatalgia bilateral, con disminución completa de la fuerza de los pies y ocasionalmente del cuádriceps acompañado de retención y/o incontinencia urinaria e hipoestesia en silla de montar debe hacernos sospechar de la existencia de un síndrome de compresión de la cola de caballo, generalmente a causa de una hernia discal. Se trata de una urgencia quirúrgica absoluta en la patología del raquis. La identificación del síndrom...

  3. Cauda equina entrapment in a pseudomeningocele after lumbar Schwannoma extirpation

    NARCIS (Netherlands)

    Oterdoom, D. L. Marinus; Groen, Rob J. M.; Coppes, Maarten

    2010-01-01

    Incidental or intentional durotomy causing cerebrospinal fluid (CSF) leakage, leading to the formation of a pseudomeningocele is a known complication in spinal surgery. Herniation of nerve roots into such a pseudomeningocele is very rare, but can occur up to years after initial durotomy and has been

  4. Spinal MRI Findings of Guillain-Barré Syndrome

    Science.gov (United States)

    Alkan, Ozlem; Yildirim, Tulin; Tokmak, Naime; Tan, Meliha

    2009-01-01

    Guillain-Barré syndrome is a relatively common, acute, and rapidly progressive, inflammatory demyelinating polyneuropathy. The diagnosis is usually established on the basis of symptoms and signs, aided by cerebrospinal fluid findings and electrophysiologic criteria. Previously, radiologic examinations have been used only to rule out other spinal abnormalities. We report a case of systemic lupus erythematosus associated with Guillain-Barré syndrome with marked enhancement of nerve roots of the conus medullaris and cauda equina on MR imaging. These MR observations may help confirm the diagnosis of Guillain-Barré syndrome. PMID:22470650

  5. Spinal MRI Findings of Guillain-Barré Syndrome

    Directory of Open Access Journals (Sweden)

    Ozlem Alkan

    2009-03-01

    Full Text Available

    Guillain-Barré syndrome is a relatively common, acute, and rapidly progressive, inflammatory demyelinating polyneuropathy. The diagnosis is usually established on the basis of symptoms and signs, aided by cerebrospinal fluid findings and electrophysiologic criteria. Previously, radiologic examinations have been used only to rule out other spinal abnormalities. We report a case of systemic lupus erythematosus associated with Guillain-Barré syndrome with marked enhancement of nerve roots of the conus medullaris and cauda equina on MR imaging. These MR observations may help confirm the diagnosis of Guillain-Barré syndrome.

  6. Caudal Regression Syndrome

    Directory of Open Access Journals (Sweden)

    Karim Hardani*

    2012-05-01

    Full Text Available A 10-month-old baby presented with developmental delay. He had flaccid paralysis on physical examination.An MRI of the spine revealed malformation of the ninth and tenth thoracic vertebral bodies with complete agenesis of the rest of the spine down that level. The thoracic spinal cord ends at the level of the fifth thoracic vertebra with agenesis of the posterior arches of the eighth, ninth and tenth thoracic vertebral bodies. The roots of the cauda equina appear tightened down and backward and ended into a subdermal fibrous fatty tissue at the level of the ninth and tenth thoracic vertebral bodies (closed meningocele. These findings are consistent with caudal regression syndrome.

  7. 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...

  8. 椎板成形术治疗老年马尾神经综合症(CES)63例%Reconstructing the vertebral laminate treated the elder Cauda Equina Syndrome 63 cases

    Institute of Scientific and Technical Information of China (English)

    董彦; 丁林坚; 刘英杰; 杨伟光; 黄永杰; 莫健斌; 黄俊杰

    2003-01-01

    目的:椎板成形术治疗老年马尾神经综合征的临床效果.方法:椎板成形术(全椎板切除,椎管减压,"H"形大块植骨,椎板下穿丝加压固定术)治疗腰椎管狭窄所致老年马尾神经损害(CES)63 例.结果:本组病人平均随访1年10个月,根据Nakai标准,优良率84.13 %.结论:老年腰椎管狭窄引起的CES行椎板成形术治疗,马尾神经彻底减压是消除症状和功能恢复的保证;大块"H"型植骨钢丝加压内固定,既可减轻术后疤痕膜形成,又重建脊柱稳定和促进植骨的融合.

  9. REVIEW OF CAUDA EQUINA LESIONS DUE TO PENETRATING INJURIES IN THE ESFAHAN PROVINCE IMPOSED WAR WOUNDED

    Directory of Open Access Journals (Sweden)

    A MIR HOSSEINI

    2003-12-01

    Full Text Available An Injury of the caudal equine has been suggested to be an unique type of spinal injury than other types of penetrating spinal injuries. However the role of surgery as a method to speed or improve recovery is unclear. The 33 war wounded reported here represent approximately 15% of all penetrating spinal injuries related to Esfahan province. The average age was 23 years they were admitted at first in urgent centers near the war border and then in hospitals in different parts of country they received spine films and syelography. Deficit were Complete. if total loss of function existed and were "incomplete" if any function remained below the level of injury. Improvement at the end of follow up (after two years was defiend as any recovery of motor strength or sensory level. Early neurosurgical intervention for pentrating injuries of caudal equine may be beneficial but carries an increased risk of complications.

  10. Cauda-conus syndrome resulting from neurocysticercosis

    Directory of Open Access Journals (Sweden)

    Singh N

    2003-01-01

    Full Text Available A 60-year-old male, presented with insidious onset, gradually progressive, burning paresthesia over the saddle area, sphincteric disturbance, impotence and paraparesis. Investigations revealed a ring-enhancing lesion in the conus medullaris suggestive of neurocysticercosis . This was supported by quantitative enzyme-linked immunosorbant assay from purified cell fraction of taenia solium cysticerci. On treatment with steroids he showed marked improvement.

  11. Urgent discectomy: Clinical features and neurological outcome

    Directory of Open Access Journals (Sweden)

    Ruth Albert

    2016-01-01

    Conclusion: Motor deficits, sensory deficits, and cauda equina dysfunction were significantly improved immediately after urgent surgery. After 6 weeks, motor and sensory deficits were also significantly improved compared to the neurological status at discharge. Thus, we advocate immediate surgery of disc herniation in patients with acute onset of motor deficits, perineal numbness, or bladder or bowel dysfunction indicative of cauda equina syndrome.

  12. The tolerance of feline corpus and cauda spermatozoa to cryostress.

    Science.gov (United States)

    Kunkitti, Panisara; Bergqvist, Ann-Sofi; Sjunnesson, Ylva; Johannisson, Anders; Axnér, Eva

    2016-02-01

    Epididymal sperm preservation can be used to avoid the total loss of genetic material in threatened species. Spermatozoa from the corpus, as from the cauda, are motile and can undergo capacitation. Thus, they can potentially be preserved for assisted reproductive technologies. However, cryopreservation of spermatozoa has a direct detrimental effect on sperm quality. The aim of this study was to compare the chromatin stability and the survival rate of spermatozoa from the corpus and cauda epididymis after cryopreservation. Epididymal spermatozoa were collected and cryopreserved from the corpus and cauda of 12 domestic cats. Sperm motility, progressive motility, membrane integrity, acrosome integrity, and DNA integrity were evaluated before and after freezing thawing. The average total number of spermatozoa collected from the corpus was lower (10.2 × 10(6) ± 7.4) than that from the cauda epididymis (24.9 × 10(6) ± 14.4; P = 0.005). The percentage of spermatozoa with intact DNA did not differ significantly whether it was collected from the corpus or cauda regions and did not decrease after freezing thawing in either region. However, motility of spermatozoa from both regions was affected by the freezing thawing process with a significant decline in motility after thaw compared with fresh spermatozoa. A significant difference in the percentage of motile sperm between the corpus and cauda was observed after the freezing thawing process (P < 0.001). Although sperm motility was lower in postthaw spermatozoa from the corpus epididymidis than from the cauda, the rate of the reduction did not differ between regions. This study indicates that the cryopreservation process does not have a negative effect on chromatin stability of feline epididymal spermatozoa. Spermatozoa from the corpus region have a similar freezability as spermatozoa from the cauda region. Therefore, preservation of spermatozoa from the corpus and the cauda epididymidis might be of value in preserving

  13. Effect of papaya seed extract on microenvironment of cauda epididymis

    Institute of Scientific and Technical Information of China (English)

    R.J. Verma; N.J. Chinoy

    2001-01-01

    Aim: To evaluate the effect of aqueous Carica papaya seed extract on microenvironment of cauda epididymis.Methods: Adult male albino rats were intrauscularly administered with 0 (control) or 0.5 mg papaya seed ex tract/kg body weight for 7 days. Cauda epididymal tubular content was collected by micropuncture technique; epididy real luminal fluid and sperm pellets were separately analyzed. Results: The results revealed that the extract treat ment caused significant reduction, as compared with control, in total protein and sialic acid contents in both epididymal fluid and sperm pellet. As compared with control, significantly lowered acid phosphatase activity was recorded in spermpellet but was higher in epididymal fluid after the treatment. The extract treatment also caused significant reduction in level of inorganic phosphorus in the ePididymal fluid. Conclusion: It is concluded that the aqueous papaya seed ex tract alters cauda epididymal microenvironment.

  14. What Is Back Pain?

    Science.gov (United States)

    ... component. Other diseases. Some types of arthritis and cancer can cause back pain. Your job. If you ... pain. Spinal stenosis. This condition causes the spinal canal to become ... or a nerve root problem called cauda equina syndrome, surgery is needed ...

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

    Directory of Open Access Journals (Sweden)

    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.

  16. Peste equina: descrizione di focolai di malattia in Namibia

    Directory of Open Access Journals (Sweden)

    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.

  17. The Mucus of Actinia equina (Anthozoa, Cnidaria: An Unexplored Resource for Potential Applicative Purposes

    Directory of Open Access Journals (Sweden)

    Loredana Stabili

    2015-08-01

    Full Text Available The mucus produced by many marine organisms is a complex mixture of proteins and polysaccharides forming a weak watery gel. It is essential for vital processes including locomotion, navigation, structural support, heterotrophic feeding and defence against a multitude of environmental stresses, predators, parasites, and pathogens. In the present study we focused on mucus produced by a benthic cnidarian, the sea anemone Actinia equina (Linnaeus, 1758 for preventing burial by excess sedimentation and for protection. We investigated some of the physico-chemical properties of this matrix such as viscosity, osmolarity, electrical conductivity, protein, carbohydrate, and total lipid contents. Some biological activities such as hemolytic, cytotoxic, and antibacterial lysozyme-like activities were also studied. The A. equina mucus is mainly composed by water (96.2% ± 0.3%, whereas its dry weight is made of 24.2% ± 1.3% proteins and 7.8% ± 0.2% carbohydrates, with the smallest and largest components referable to lipids (0.9% and inorganic matter (67.1%. The A. equina mucus matrix exhibited hemolytic activity on rabbit erythrocytes, cytotoxic activity against the tumor cell line K562 (human erythromyeloblastoid leukemia and antibacterial lysozyme-like activity. The findings from this study improve the available information on the mucus composition in invertebrates and have implications for future investigations related to exploitation of A. equina and other sea anemones’ mucus as a source of bioactive compounds of high pharmaceutical and biotechnological interest.

  18. Posterior epidural migration of lumbar ruptured disc: report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Deug Hee; Lee, Sang Ho; Park, Hyeon Seon; Park, Jy Young; Chung, Seung Eun; Jo, Byung June [Wooridul Spine Hospital, Seoul (Korea, Republic of)

    2006-02-15

    Disc fragment migration occurs in 35%-72% of lumbar disc herniations. Most of the herniated disc fragments migrate in the rostal, caudal and lateral directions. Posterior epidural disc fragment migration is a rare finding and posterior migration causing Cauda Equina syndrome is exceptionally rare. We report here on two cases of L4-5 disc fragment posterior epidural migration that caused Cauda Equina syndrome, and this was diagnosed by performing radiological examination, and we also include a review of the related literature.

  19. In vitro fertilization using frozen-thawed feline epididymal spermatozoa from corpus and cauda regions.

    Science.gov (United States)

    Kunkitti, Panisara; Axnér, Eva; Bergqvist, Ann-Sofi; Sjunnesson, Ylva

    2016-10-01

    Epididymal sperm preservation offers a potential for rescuing genetic material from endangered or valuable animals after injury or death. Spermatozoa from corpus, as well as from cauda, have the capability to be motile and to undergo capacitation and can thus potentially be preserved for assisted reproductive technologies. In the present study, feline frozen-thawed epididymal spermatozoa from corpus and cauda regions were investigated for their ability to fertilize homologous oocytes and further embryo development in vitro. Epididymal spermatozoa from corpus and cauda of seven cats were cryopreserved and used for IVF. Cumulus-oocyte complexes (n = 419) were obtained from female cats after routine spaying. Frozen-thawed corpus epididymal spermatozoa showed similar properties of acrosome integrity, membrane integrity, and chromatin integrity as frozen-thawed spermatozoa from cauda except corpus spermatozoa showed lower motility (P < 0.05). The fertilizing capacity of frozen-thawed corpus epididymal spermatozoa was confirmed by similar number of embryos developing to the two- and four-cell stages compared with sperm from cauda (32.03% vs. 33.33%). However, oocytes fertilized with corpus spermatozoa had lower potential to develop to the blastocyst stage (6.79%) and had lower cell numbers compared to oocytes fertilized with cauda spermatozoa (14.08%). In conclusion, spermatozoa from corpus epididymis had a similar capability to fertilize homologous oocytes in vitro as sperm from cauda but resulted in fewer embryos developing to the blastocyst stage compared to spermatozoa from the cauda. PMID:27242180

  20. Effect of Solanum surattense seed on the oxidative potential of cauda epididymal spermatozoa

    Institute of Scientific and Technical Information of China (English)

    Thirumalai T; David E; Viviyan Therasa S; Elumalai EK

    2012-01-01

    Objective: To evaluate the effect of aqueous seed extract of Solanum surattense (S. surattense) on the oxidative potential of cauda epididymal spermatozoa. Methods: S. surattense seed extract was orally administered at the dosage of 10 mg/kg b.w. for 15 days, after which aspartate transferase (AST), alanine transferase (ALT), glutamate dehydrogenase (GDH), citric acid and iso-citrate dehydrogenase (ICDH) were assayed. Results: The activity levels of the enzymes AST and ALT, which are considered to be the androgenicity in the sperm suspension, were depleted in the extract fed rats. The activity level of the enzyme ICDH, was reduced significantly in the treated group (P<0.001). Conclusions: It can be concluded that the oral administration of the aqueous seed extract of S. surattense can deplete the oxidative stress of cauda epididymal spermatozoa in albino rats.

  1. Effect of benzene extract of Ocimum sanctum leaves on cauda epididymal spermatozoa of rats

    Directory of Open Access Journals (Sweden)

    Mukhtar Ahmed

    2011-01-01

    Full Text Available AbstractBackground: Recent studies have shown that benzene extract of Ocimum sanctum (O. sanctum leaves induces the ultrastructural changes in the epithelial cells of the cauda epididymis, its subsequent recovery in the seminiferous epithelium and fertility of male albino rats.Objective: Our aim was to investigate the effect of benzene extract of O.sanctum leaves on the cauda epididymal sperm parameters, morphology and their organelles at the ultrastructural level in albino rats. Materials and Methods: Wistar male rats (n=20 were allocated into two groups of control (n=10 and test group (n=10. The test group received benzene extract of O.sanctum leaves (250mg/kg/day for 48 consequence days. Five animals from each group were used for fertility test. Twenty-four hours after the last dose, the rest of the control (n=5 and treated (n=5 animals were sacrificed by cervical dislocation and then the cauda epididymal plasma was used for sperm analysis, scanning electron microscopy (SEM and transmission electron microscopic (TEM studies. Results: Sperm analysis of test group exhibited significant (p≤0.001 decrease in the sperm count, motility, speed and increase in sperm anomalies when compare to control group. SEM and TEM observation in treated animals indicated the morphological changes in plasma membrane as well as in the acrosomal membrane of spermatozoa, formation of a balloon-like cytoplasmic droplet in the mid-region of abnormal tail and disorganization or degeneration of mitochondria of sperm mitochondrial sheaths. Conclusion: The effects observed in this study may have resulted from a general alteration in the cauda epididymal milieu, probably due to androgen deficiency consequent to the anti-androgenic property of O.sanctum leaves

  2. Reversible bladder denervation in acute polyradiculitis

    DEFF Research Database (Denmark)

    Kamper, A L; Andersen, J T

    1982-01-01

    A case of reversible bladder denervation in acute polyradiculitis is presented, in which both motor and sensory bladder involvement could be demonstrated using cystometry and denervation-hypersensitivity testing. Attention is drawn to the differential diagnosis to cauda equina syndromes of other...

  3. Síndrome de la cola de caballo causado por ependimoma

    OpenAIRE

    Iglesias Rozas, José Rafael, 1942-

    1982-01-01

    Siete imágenes de un ependimoma causante del síndrome de la cola de caballo en un paciente de 41 años. Seven pictures of an ependymoma that has caused a cauda equina syndrome in a 41-year-old male patient.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    Briffa, Mark; Greenaway, Julie

    2011-01-01

    '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.

  6. Surto de encefalomielite equina Leste na Ilha de Marajó, Pará

    Directory of Open Access Journals (Sweden)

    Karinny F. Campos

    2013-04-01

    Full Text Available Nove casos de encefalomielite equina foram estudados na Ilha de Marajó, estado do Pará, Brasil. Os equinos apresentavam dificuldade em se manter em estação, andavam em círculo, tinham acentuada depressão, pálpebras cerradas, paralisia da língua, tremores musculares, bruxismo, anorexia e desidratação. Alguns apresentavam diminuição dos reflexos auricular, palpebral, de ameaça, diminuição do tônus da língua e taquicardia. Posição de auto-auscultação foi observada com frequência. Os animais muitas vezes eram encontrados apoiados em troncos e cercas para se manterem em estação. À necropsia verificou-se hemorragia das leptomeninges e da medula, alguns apresentaram ainda aderência das leptomeninges. À histopatologia verificou-se encefalite difusa que afetava principalmente a substância cinzenta, com meningite e coroidite. Foi observada perivasculite mononuclear. Em dois equinos identificou-se o vírus da encefalomielite equina Leste pela reação de Semi-Nested transcrição reversa de polimerase em cadeia (Semi-Nested RT-PCR.

  7. Equistatin, a protease inhibitor from the sea anemone Actinia equina, is composed of three structural and functional domains

    NARCIS (Netherlands)

    Strukelj, B.; Lenarcic, B.; Gruden, K.; Pungercar, J.; Rogelj, B.; Turk, V.; Bosch, D.; Jongsma, M.A.

    2000-01-01

    A cDNA encoding a precursor of equistatin, a potent cysteine and aspartic proteinase inhibitor, was isolated from the sea anemone Actinia equina. The deduced amino acid sequence of a 199-amino-acid residue mature protein with 20 cysteine residues, forming three structurally similar thyroglobulin typ

  8. Comparison of four methods to evaluate sperm DNA integrity between mouse caput and cauda epididymidis

    Institute of Scientific and Technical Information of China (English)

    Serafín Pérez-Cerezales; Alberto Miranda; Alfonso Gutiérrez-Adán

    2012-01-01

    It is well known that transit through the epididymis involves an increase in the compaction of sperm chromatin,which acquires fully condensed status at the caput epididymidis.The purpose of this study was to compare the terminal deoxyribonucleotidyl transferase-mediated dUTP nick end-labelling (TUNEL) assay,the comet assay,the sperm chromatin structure assay (SCSA) and the sperm chromatin dispersion (SCD) test by analysing spermatozoa from the caput and cauda epididymidis in order to demonstrate the ability of each technique to discriminate between different degrees of sperm maturity related to chromatin compaction and DNA fragmentation.Our results suggest that some populations of DNA-fragmented spermatozoa associated with immature sperm can only be identified using the comet assay and the SCSA but not with the SCD test or the TUNEL assay.

  9. Metritis Equina Contagiosa en yeguas de la Raza Española

    Directory of Open Access Journals (Sweden)

    Liliana Márquez Sánchez, Daniel Fernando Ramírez Vega, Elías Velázquez Cantón, Carlos Ramiro Muñoz, Aída Lorena Murillo Medina y Alejandro Córdova Izquierdo*

    2005-05-01

    Full Text Available Esta investigación fue realizada para el diagnóstico de Taylorella equigenitalis, agente causal de la metritis equina contagiosa (MEC. Se realizó al sur de la Ciudad de México, en una yeguada de la raza española, con un total de 29 animales. Se analizaron parámetros reproductivos de todas las yeguas. Fueron seleccionadas 4 yeguas, las cuales presentaron metritis y se trataron con antibiótico, se realizó la prueba para metritis equina contagiosa y un examen bacteriológico general. La Taylorella equigenitalis es el agente causal de la MEC, es un cocobacilo microaerofílico gram-negativo que anteriormente se denominaba como Haemophilus equigenitalis. Reside exclusivamente en el tracto genital de los equinos. Los sementales son portadores asintomáticos, pero ambos sexos lo pueden tener. La enfermedad es altamente contagiosa. Su transmisión es esencialmente venérea, pero las yeguas pueden ser infectadas por el caballerango o instrumentos veterinarios. La Taylorella equigenitalis provoca infertilidad temporal. Los signos principales van desde una copiosa a una ligera descarga vaginal mucopurulenta y variable cervicitis y vaginitis. La detección de la infección depende del cultivo con hisopos del tracto urogenital, tanto de la hembra, como del macho. La toma de muestras se realizó seriada en 3 ocasiones con un intervalo mínimo de 7 días. Los hisopos fueron transportados al Laboratorio de Diagnóstico de Salud Animal ubicado en Tecámac, Estado de México, siendo este el único reconocido oficialmente para procesar este tipo de muestras. Se transportaron con las precauciones necesarias, para evitar pérdida en la viabilidad. El medio de rutina utilizado fue agar chocolate con una rica base nutritiva como el Eugon con un 10 p. 100 de sangre de equino sin dextrosa. El medio inoculado fue incubado a 37ºC bajo 10 p. 100 de CO2. Los resultados para T. equigenitalis fueron negativos en las 4 yeguas; sin embargo, hubo crecimiento bacteriano

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

    Directory of Open Access Journals (Sweden)

    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.

  11. The Protective Effects of Carrot Seed Extract on Spermatogenesis and Cauda Epididymal Sperm Reserves in Gentamicin Treated Rats

    Directory of Open Access Journals (Sweden)

    Mohammad Nouri

    2009-01-01

    Full Text Available Objective: Carrot (Daucus carota L. is known to possess antifertility properties in female.However, according to Iranian traditional medicine, it can increase the potency in men. Theaim of this study was to investigate the influence of carrot seed extract (CSE on spermatogenesis,number and motility of sperms in cauda epididyme in male rats.Materials and Methods: Forty adult male rats were randomly divided into 5 groups: controlgroup, groups receiving low- and high doses of CSE, animals that received high-dose of CSEwith gentamicin, and a gentamicin only group. After 4 weeks treatment, fasting serum sampleswere obtained for the sex hormone analysis. Under anesthesia, testis, cauda epididymidesand sperm ducts were dissected and sperm count, motility and cauda epididymis spermreserves (CESR were determined. Histopathological changes of testis were also studied toassess spermatogenesis. Data analysis was performed using one-way ANOVA followed byTukey HSD tests.Results: Administration of CSE caused a significant increase in CESR compared with thecontrol (28.2 ± 1.8 vs. 45.1 ± 2.0, ×106. The extract could also protect testis from the gentamicin-induced necrosis. The CSE administration caused about 3.5-times increase in theLH levels even in spite of receiving 5 mg/kg/day gentamicin with no significant effect on FSHlevels. The testosterone concentrations in the group received 400 mg/kg CSE were 30% and83% higher than its levels in the control and the gentamicin treated group, respectively.Conclusion: CSE can overcome reproductive toxicity of gentamicin and induces spermatogenesisprobably mainly through the elevation of testosterone levels.

  12. Whole-body heat exposure induces membrane changes in spermatozoa from the cauda epididymidis of laboratory mice

    OpenAIRE

    Wechalekar, Harsha; Setchell, Brian P.; Peirce, Eleanor J.; Ricci, Mario; Leigh, Chris; Breed, William G.

    2010-01-01

    This study was carried out to determine if exposure to hot environmental temperatures had a direct, detrimental effect on sperm quality. For this the effect of whole-body heat exposure on epididymal spermatozoa of laboratory mice was investigated. C57BL/6 mice (n = 7) were housed in a microclimate chamber at 37°C–38°C for 8 h per day for three consecutive days, while control mice (n = 7) were kept at 23°C–24°C. Cauda epididymal spermatozoa were obtained 16 h after the last heat treatment. The...

  13. Symptomatic lumbosacral perineural cysts: A report of three cases and review of literature.

    Science.gov (United States)

    Sharma, Mayur; Velho, Vernon; Mally, Rahul; Khan, Shadma W

    2015-01-01

    Lumbosacral perineural cysts (Tarlov's cysts) are nerve root cysts, which are usually asymptomatic and are detected incidentally on imaging. These cysts are rare with an incidence of 4.6%. We report three cases of Lumbosacral Tarlov's cysts, which presented with cauda equina syndrome and radicular pain syndrome. Two of our patients had symptoms of cauda equina syndrome, and one had acute sciatica. Complete excision of the cyst was achieved in two patients and marsupialization of the cyst was done in another patient due to its large size and dense adherence to the sacral nerve roots. All the patients were relieved of the radicular pain with no new neurological deficit following surgery. Symptomatic lumbosacral Tarlov's cyst is a rare lesion, and the presentation can be low back pain, cauda equina syndrome or sciatica. Therefore, this entity should be kept in the differential diagnosis of patients presenting with these symptoms. Complete Surgical excision of these symptomatic cysts is the treatment of choice to achieve a cure. PMID:26396612

  14. Uncomplicated mechanically induced pelvic pain and organic dysfunction in low back pain patients

    OpenAIRE

    Browning, James E.

    1991-01-01

    Mechanical disorders of the lumbar spine have been given much attention in the literature. Short of an acute cauda equina syndrome, few reports exist detailing the findings and clinical course of patients with pelvic and disorders of bladder, bowel and gynecologic/sexual function of spinal origin. Two uncomplicated representative cases of mechanically induced pelvic pain and organic dysfunction (PPOD) in patients presenting with low back pain are detailed. These patients typically reveal a wi...

  15. MRI of the axial skeletal manifestations of ankylosing spondylitis

    Energy Technology Data Exchange (ETDEWEB)

    Levine, D.S.; Forbat, S.M.; Saifuddin, A. E-mail: asaifuddin@aol.com

    2004-05-01

    Magnetic resonance imaging (MRI) is a valuable tool in the imaging and assessment of patients with ankylosing spondylitis. MRI can demonstrate the acute and chronic changes of sacroiliitis, osteitis, discovertebral lesions, disc calcifications and ossification and arthopathic lesions, which characterize the disease, as well as the complications, which include fracture and the rare cauda equina syndrome. This article reviews the range of MRI findings commonly seen within the axial skeleton in patients with this condition.

  16. Treatment of Posttraumatic Abdominal Autonomic Neuropathy Manifesting as Functional Dyspepsia and Chronic Constipation: An Integrative East-West Approach

    OpenAIRE

    Shubov, Andrew; Taw, Lawrence

    2015-01-01

    A 52-year-old male with a history of spinal cord injury and cauda equina syndrome resulting in neurogenic bladder presented with chronic constipation and functional dyspepsia that was refractory to medical management. He was treated with an integrative East-West approach including acupuncture, trigger point injections, and Tui Na massage. Both his pain and constipation improved after a series of treatments, and this improvement was largely sustained at 2-year follow-up. This patient's symptom...

  17. Adolescence spinal epidural abscess with neurological symptoms: case report, a lesson to be re-learnt

    OpenAIRE

    Sales, Jafar Ganjpour; Tabrizi, Ali; Elmi, Asghar; Soleimanpour, Jafar; Gavidel, Ehsan

    2013-01-01

    Epidural abscess of the spinal column is a rare condition that can be fatal if left untreated. It promptly progresses and can cause neurologic paralysis, urinary retention or cauda equina syndrome. Compromised immune system that occurs in patients with diabetes mellitus, AIDS, chronic renal failure, alcoholism, or cancer is a predisposing factor. It mostly occurs in adults. Here we would like to report a case of spontaneous pyogenic lumbar epidural abscess with neurological deficit diagnosed ...

  18. Intracranial Hypotension Syndrome, Diagnosis and Treatment in Radiology Clinics

    Directory of Open Access Journals (Sweden)

    S. Albayram

    2005-08-01

    the region of the cauda equina, and Rabin et al (4 described another case of intracranial h

  19. Producció recombinant de la gonadotrofina coriònica equina amb el llevat Pichia pastoris

    OpenAIRE

    Ubach Font, Anna

    2009-01-01

    En aquest estudi es presenta el procés d'obtenció d'una proteïna recombinant, l'hormona gonadotrofina coriònica equina (eCG) en el llevat metilotròfic Pichia pastoris.S'ha sintetitzat els gens mitjançant la tècnica de PCR, ja que les seqüències són relativament curtes, 294 i 472 nucleòtids pels gens codificadors de la cadena α i β, respectivament. Això ha permès poder modificar la seqüència per tal d'adaptar-la a l'ús codons més utilitzats per P. pastoris, eliminar i afegir dianes d...

  20. Adenite equina: sua etiologia, diagnóstico e controle Strangles: etiology, diagnosis and control

    Directory of Open Access Journals (Sweden)

    Carina Martins de Moraes

    2009-09-01

    Full Text Available A adenite equina, também conhecida como garrotilho, é uma enfermidade bacteriana contagiosa, causada por Streptococcus equi, subsp. equi, bactéria β hemolítica do grupo C de Lancefield, que afeta o trato respiratório anterior de equinos de todas as idades, com maior prevalência entre um e cinco anos de idade. Caracteriza-se por produzir secreção mucopurulenta das vias aéreas anteriores e linfadenite dos gânglios retrofaríngeos e submandibulares com formação de abscessos. Fatores de virulência de S. equi, subsp. equi, incluem cápsula de ácido hialurônico, hialuronidase, estreptolisina O, estreptoquinase, receptores para Fc de IgG, peptidoglicano e proteína M. Dentre esses fatores, a proteína M tem especial importância por ser de membrana com propriedades antifagocitárias e de aderência. A doença tem baixa letalidade e alta morbidade e seus prejuízos econômicos devem-se à perda de performance e custo do tratamento. O diagnóstico clínico e o tratamento não apresentam dificuldades, mas a profilaxia é prejudicada pela baixa eficiência das vacinas disponíveis, com índices de proteção de 50%. O garrotilho pode ocorrer em todas as épocas do ano, mas o frio e a umidade facilitam a sobrevivência do agente e sua disseminação, portanto animais que vivem nos estados mais frios e úmidos do país são mais vulneráveis à infecção. Novas vacinas utilizando antígenos purificados ou de subunidades estão sendo desenvolvidas com a finalidade de incrementar sua potência e evitar efeitos indesejáveis. A comprovação de diferenças de antigenicidade, entre estirpes, alerta sobre a importância da seleção apropriada das cepas vacinais.Strangles is a contagious disease of the respiratory tract of horses produced by Streptococcus equi subsp. equi, a Lancefield's group C β haemolytic bacterium. It produces a mucopurulent secretion of the anterior airways, as well as lymphadenitis and abscesses. The bacteria synthesizes

  1. Mechanical properties of nerve roots and rami radiculares isolated from fresh pig spinal cords

    Directory of Open Access Journals (Sweden)

    Norihiro Nishida

    2015-01-01

    Full Text Available No reports have described experiments designed to determine the strength characteristics of spinal nerve roots and rami radiculares for the purpose of explaining the complexity of symptoms of medullary cone lesions and cauda equina syndrome. In this study, to explain the pathogenesis of cauda equina syndrome, monoaxial tensile tests were performed to determine the strength characteristics of spinal nerve roots and rami radiculares, and analysis was conducted to evaluate the stress-strain relationship and strength characteristics. Using the same tensile test device, the nerve root and ramus radiculares isolated from the spinal cords of pigs were subjected to the tensile test and stress relaxation test at load strain rates of 0.1, 1, 10, and 100 s -1 under identical settings. The tensile strength of the nerve root was not rate dependent, while the ramus radiculares tensile strength tended to decrease as the strain rate increased. These findings provide important insights into cauda equina symptoms, radiculopathy, and clinical symptoms of the medullary cone.

  2. A Case Report of Jarcho–Levin Syndrome and Caudal Regression Syndrome in A Five Year Old Girl

    Directory of Open Access Journals (Sweden)

    H. Emad Momtaz

    2008-07-01

    Full Text Available Introduction: Jarcho- Levin syndrome and caudal regression syndrome are rare syndromes with clinical and radiologic findings of cervical and thoracic vertebral anomalies with rib deformities (jarcho-levin syndrome and sacrococcygeal agenesis, lower extremity anomalies, truncated spinal cord and neurogenic bladder (caudal regression syndrome. There are only one report of simultaneous existence of these two syndromes in a dead fetus in literature.Case Report: The case was a 5 year old girl who had history of bilateral hip dysplasia and spastic dipleigia of lower limbs who presented with recurrent urinary tract infections. X - Ray findings was extensive vertebral anomalies such as hemivertebrae, butterfly vertebrae, coccygeal agenesis and rib deformities. MRI findings was termination of spinal cord at low thoracic level, cystic mass of sacral area.Conclusion: This case is a rare simultaneous occurrence of Jarcho-levin and Cauda regression syndrome in a patient and to our best knowledge is reported for the first time in Iran.

  3. L’immunogenicità nella cavia e nel cavallo di due formulazioni di un vaccino inattivato e adiuvato per la peste equina

    Directory of Open Access Journals (Sweden)

    Gaetano Federico Ronchi

    2012-03-01

    Full Text Available L’efficacia di due vaccini monovalenti, inattivati e adiuvati per il controllo della Peste Equina, allestiti con i sierotipi 5 e 9, è stata saggiata su cavia per selezionare la formulazione con le migliori capacità immunogene. Nella formulazione dei vaccini sono state prese in considerazione: la risposta immunitaria evocata nella cavia e le proprietà infiammatorie di due diversi tipi di adiuvanti precedentemente saggiati nella specie di destino del vaccino.Il vaccino allestito con il sierotipo 9, saggiato in uno studio pilota su cavallo, si è dimostrato capace fin dalla prima somministrazione di stimolare la produzione di anticorpi neutralizzanti. La risposta anticorpale evocata ha subito un marcato rialzo dopo la somministrazione della dose di richiamo, effettuata dopo 28 giorni, perdurando per almeno 10 mesi. La cavia sembra essere un utile modello di laboratorio per la valutazione delle proprietà antigeniche dei vaccini contro la peste equina.

  4. L’immunogenicità nella cavia e nel cavallo di due formulazioni di un vaccino inattivato e adiuvato per la peste equina

    OpenAIRE

    Gaetano Federico Ronchi; Simonetta Ulisse; Emanuela Rossi; Paola Franchi; Gisella Armillotta; Sara Capista; Agostino Peccio; Mauro Di Ventura; Attilio Pini

    2012-01-01

    L’efficacia di due vaccini monovalenti, inattivati e adiuvati per il controllo della Peste Equina, allestiti con i sierotipi 5 e 9, è stata saggiata su cavia per selezionare la formulazione con le migliori capacità immunogene. Nella formulazione dei vaccini sono state prese in considerazione: la risposta immunitaria evocata nella cavia e le proprietà infiammatorie di due diversi tipi di adiuvanti precedentemente saggiati nella specie di destino del vaccino.Il vaccino allestito con il sierotip...

  5. Vaccino inattivato e adiuvato per il controllo delle infezioni da sierotipo 9 del virus della peste equina: valutazione dell'efficacia in cavallo e cavia

    OpenAIRE

    Rossella Lelli; Umberto Molini; Gaetano Federico Ronchi; Emanuela Rossi; Paola Franchi; Simonetta Ulisse; Gisella Armillotta; Sara Capista; Siegfried Khaiseb; Mauro Di Ventura; Attilio Pini

    2013-01-01

    La peste equina (PE) è una malattia virale non contagiosa dei solipedi trasmessa da insetti vettori appartenenti al genere Culicoides. La malattia è endemica in numerose regioni dell'Africa e passate esperienze hanno evidenziato come l'Italia sia un paese esposto alle malattie infettive emergenti, endemiche in Africa. Un'incursione del virus della PE unitamente alla presenza del vettore Culicoides potrebbero essere causa di una emergenza epidemica. Onderstepoort Biological Products (OBP) comm...

  6. Whole-body heat exposure induces membrane changes in spermatozoa from the cauda epididymidis of laboratory mice.

    Science.gov (United States)

    Wechalekar, Harsha; Setchell, Brian P; Peirce, Eleanor J; Ricci, Mario; Leigh, Chris; Breed, William G

    2010-07-01

    This study was carried out to determine if exposure to hot environmental temperatures had a direct, detrimental effect on sperm quality. For this the effect of whole-body heat exposure on epididymal spermatozoa of laboratory mice was investigated. C57BL/6 mice (n = 7) were housed in a microclimate chamber at 37 degrees C-38 degrees C for 8 h per day for three consecutive days, while control mice (n = 7) were kept at 23 degrees C-24 degrees C. Cauda epididymal spermatozoa were obtained 16 h after the last heat treatment. The results showed that sperm numbers were similar in the two groups (P = 0.23), but after heat treatment, a significant reduction in the percentage of motile sperm was present (P phosphotidylserine from the inner to the outer leaflet of the sperm plasma membrane, and 7-aminoactinomycin D (7-AAD), which binds to the sperm nucleus when the plasma membrane is damaged. The percentage of spermatozoa showing positive staining with Annexin V-PE or 7-AAD or both, was significantly higher (P < 0.05) in heat-exposed mice compared with controls. These results show that whole-body heat exposure to 37 degrees C-38 degrees C induces membrane changes in the epididymal spermatozoa of mice, which may lead to apoptosis. PMID:20531278

  7. 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

  8. Avaliação da migração das células progenitoras após terapia da tendinite equina

    OpenAIRE

    P.G.G. Oliveira; A.M. Carvalho; A.L.M. Yamada; L. Maia; N.P.P. Freitas; M.J. Watanabe; F.C. Landim-Alvarenga; A.L.G. Alves

    2014-01-01

    A terapia celular vem sendo utilizada com resultados promissores no tratamento da tendinite equina, entretanto ainda existem dúvidas quanto à persistência e ao comportamento dessas células quando implantadas no local da lesão, e quanto à sua migração para outros focos inflamatórios. O objetivo deste estudo foi avaliar a marcação das células-tronco mesenquimais (CTMs) com nanocristal antes e após o implante em lesões tendíneas experimentais do tendão flexor digital superficial (TFDS) de equino...

  9. Unnecessary multiple epidural steroid injections delay surgery for massive lumbar disc: Case discussion and review

    Directory of Open Access Journals (Sweden)

    Nancy E Epstein

    2015-01-01

    Full Text Available Background: Epidural steroid injections (ESI in the lumbar spine are not effective over the long-term for resolving "surgical" lesions. Here, we present a patient with a massive L2-L3 lumbar disk herniation whose surgery was delayed for 4 months by multiple unnecessary ESI, resulting in a cauda equina syndrome. Methods: A 54-year-old male acutely developed increased low back and radiating left leg pain in October of 2014. In December of 2014, a magnetic resonance imaging (MRI scan showed a massive central/left sided disk herniation at the L2-L3 level resulting in marked thecal sac and left L2 foraminal and L3 lateral recess root compression. Despite the marked degree of neural compression, pain management treated him with 3 ESI over the next 3 months. Results: At the end of April of 2015, he presented to spine surgeon with a cauda equina syndrome. When the new MRI scan confirmed the previously documented massive central-left sided L2-L3 disk herniation, the patient emergently underwent an L1-L3 laminectomy with central-left sided L2-L3 lateral/foraminal diskectomy. Postoperatively, the patient was neurologically intact. Conclusions: Pain specialists performed multiple unnecessary lumbar ESI critically delaying spinal surgery for 4 months in this patient with a massive lumbar disk herniation who ultimately developed a cauda equina syndrome. Unfortunately, pain specialists (e.g., radiologists, anesthesiologists, and physiatrists, not specifically trained to perform neurological examinations or spinal surgery, are increasingly mismanaging spinal disease with ESI/variants. It is time for spine surgeons to speak out against this, and "take back" the care of patients with spinal surgical disease.

  10. Evaluation of implant stabilization in tubercular Spondylodiscitis: a prospective study

    Directory of Open Access Journals (Sweden)

    Sharath Kumar Maila

    2015-10-01

    Results: Mechanical failure of the implant was the most commonly encountered complication. Neurological complications included progressive neurologic deterioration, hoarseness of voice, cauda equina syndrome, foot drop. Persistent worsening of pain, DVT and pressure ulcers were the complications encountered that are not specific to a region of spine. Conclusions: Stabilization is not without complications in tubercular spine. But with strict adherence to guidelines the complications can be minimal and are not dismal. [Int J Res Med Sci 2015; 3(10.000: 2647-2653

  11. Lumbar disc protrusion therapy by combination drug administration in epidural space%硬膜外腔联合用药治疗腰椎间盘突出症

    Institute of Scientific and Technical Information of China (English)

    尹美华; 杨德荣; 许晶; 马玉清

    2003-01-01

    @@ BACKGROUND: Lumbar disc protrusion was a syndrome dueto degeneration of disc, disruption of fibrous tings and protrusion ofnucleus pulposus and stimulation of cauda equina. It was the mostcommon cause of leg and back pain. it had a high incidence rate andthe patients suffered too greatly to normal work and life. Afternon-operative therapy, symptoms of most patients disappeared orrelieved. Only 10% to 15% of the patients needed operation. Re-cently, combination drug administration in epidural space were usedin lumbar disc protrusion therapy with a highly successful rate andhttle danger.

  12. [Lumbar disc herniation and andrological diseases].

    Science.gov (United States)

    Jin, Bao-fang

    2015-10-01

    Lumbar disc herniation is a common male disease. In the past, More academic attention was directed to its relationship with lumbago and leg pain than to its association with andrological diseases. Studies show that central lumber intervertebral disc herniation may cause cauda equina injury and result in premature ejaculation, erectile dysfunction, chronic pelvic pain syndrome, priapism, and emission. This article presents an overview on the correlation between central lumbar intervertebral disc herniation and andrological diseases, focusing on the aspects of etiology, pathology, and clinical progress, hoping to invite more attention from andrological and osteological clinicians. PMID:26665671

  13. Traumatic extradural lumbar haematoma due to a pathological metastatic vertebral body fracture L3. Case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Balasa Daniel

    2016-06-01

    Full Text Available Spinal epidural haematoma (SEH is a rare entity. We present the case of a 45 years old patient with lumbar epidural hematoma produced by a L3 vertebral tumoral (metastatic fracture. Neurological status: cauda equina syndrome with sphincterian deficits, incomplete paraplegia (Frankel C, with neurological level L1. Emergency surgery was performed (L3-L2-bilateral laminectomy, L1 left laminectomy, posterior stabilization L2-L4 by titan screws offering the possibility to progressive motor, sensitive and sphincterian deficites recovery.

  14. 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.

  15. Community-acquired Serratia marcescens spinal epidural abscess in a patient without risk factors: Case report and review.

    Science.gov (United States)

    Parkins, Michael D; Gregson, Daniel B

    2008-05-01

    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.

  16. Metastases from a pituitary adenoma: MRI

    International Nuclear Information System (INIS)

    Few cases of pituitary adenoma with metastases have been reported. We report a case with histologically benign intracranial and cauda equina metastases. We compare it to the others in the literature. (orig.)

  17. Metastases from a pituitary adenoma: MRI

    Energy Technology Data Exchange (ETDEWEB)

    Boucaud, L. de; Dousset, V.; Viaud, B.; Caille, J.M. [Service de Neuroradiologie, CHU Pellegrin, Bordeaux (France); Caillaud, P.; Guerin, J. [Service de Neurochirurgie, CHU Pellegrin, Bordeaux (France)

    1999-10-01

    Few cases of pituitary adenoma with metastases have been reported. We report a case with histologically benign intracranial and cauda equina metastases. We compare it to the others in the literature. (orig.)

  18. Surto de encefalomielite equina Leste na Ilha de Marajó, Pará Eastern equine encephalitis on Marajó Island, Pará state, Brazil

    Directory of Open Access Journals (Sweden)

    Karinny F. Campos

    2013-04-01

    Full Text Available Nove casos de encefalomielite equina foram estudados na Ilha de Marajó, estado do Pará, Brasil. Os equinos apresentavam dificuldade em se manter em estação, andavam em círculo, tinham acentuada depressão, pálpebras cerradas, paralisia da língua, tremores musculares, bruxismo, anorexia e desidratação. Alguns apresentavam diminuição dos reflexos auricular, palpebral, de ameaça, diminuição do tônus da língua e taquicardia. Posição de auto-auscultação foi observada com frequência. Os animais muitas vezes eram encontrados apoiados em troncos e cercas para se manterem em estação. À necropsia verificou-se hemorragia das leptomeninges e da medula, alguns apresentaram ainda aderência das leptomeninges. À histopatologia verificou-se encefalite difusa que afetava principalmente a substância cinzenta, com meningite e coroidite. Foi observada perivasculite mononuclear. Em dois equinos identificou-se o vírus da encefalomielite equina Leste pela reação de Semi-Nested transcrição reversa de polimerase em cadeia (Semi-Nested RT-PCR.Nine cases of equine encephalomyelitis on Marajó Island, state of Pará, Brazil, were studied. The affected horses had difficulty to stand, walked in circles, with marked depression, closed eyelids, tongue paralysis, muscle tremors, bruxism, anorexia and dehydration. Some had their ear and eyelid reflexes diminished, decreased tongue tone and tachycardia; laid down frequently they kept their head on the chest. Often they were seen resting their head on tree trunks or fences. At necropsy, hemorrhages of the meninges and spinal cord, and in some animals also adhesion of the meninges were found. Histologically there was diffuse encephalitis affecting mainly the gray matter, with meningitis and choroiditis. Presence of perivascular cuffs consisting of mononuclear inflammatory cells was observed. From two horses the Eastern equine encephalitis virus was identified by semi-nested reverse transcription

  19. A sacral lesion resembling osteochondrosis in the German Shepherd dog

    International Nuclear Information System (INIS)

    More than 30% (21 of 65) of German Shepherd dogs with clinical signs of cauda equina compression had radiographic and pathologic abnormalities compatible with osteochondrosis of the sacral endplate. Most of these dogs had a defect in the dorsal part of the sacral endplate and a detached bone fragment in the vertebral canal. Similar lesions were also found in growing and young adult dogs without clinical signs. The dogs with clinical signs of cauda equina compression also had severe degenerative disc disease with protrusion of the lumbosacral disc and compression of the cauda equina, suggesting that the signs of cauda equina compression more likely were related to the secondary degenerative changes (disc protrusions) rather than the primary disease. Clinically normal German Shepherds with sacral osteochondrosis usually were younger than 18 months, the dogs with cauda equina compression and sacral osteochondrosis older than 18 months (mean age 4.8 years). On the average, these dogs were two years younger as compared to dogs with cauda equina compression without sacral osteochondrosis. Male dogs are more often affected than females (5:1). There is a breed predisposition: in dogs other than German Shepherds, osteochondrosis of the sacral endplate seems to be extremely rare

  20. Vaccino inattivato e adiuvato per il controllo delle infezioni da sierotipo 9 del virus della peste equina: valutazione dell'efficacia in cavallo e cavia

    Directory of Open Access Journals (Sweden)

    Rossella Lelli

    2013-03-01

    Full Text Available La peste equina (PE è una malattia virale non contagiosa dei solipedi trasmessa da insetti vettori appartenenti al genere Culicoides. La malattia è endemica in numerose regioni dell'Africa e passate esperienze hanno evidenziato come l'Italia sia un paese esposto alle malattie infettive emergenti, endemiche in Africa. Un'incursione del virus della PE unitamente alla presenza del vettore Culicoides potrebbero essere causa di una emergenza epidemica. Onderstepoort Biological Products (OBP commercializza un vaccino vivo attenuato contenente 7 dei 9 sierotipi virali, i sierotipi 5 e 9 sono esclusi dal vaccino. L'uso di tali vaccini è controverso, pertanto, da diversi anni, vengono condotti studi su prodotti inattivati o ricombinanti. Poiché la ricerca sui vaccini PE è ostacolata dalla necessità di utilizzare il cavallo per la valutazione dell'immunogenicità, in un precedente esperimento è stata studiata la risposta sierologica ai sierotipi 5 e 9, in cavie e cavalli. Nelle due specie animali è stata osservata una risposta durevole e sovrapponibile. Nel presente studio sono state saggiate per un periodo di 12 mesi le risposte sierologiche ottenute in cavie e cavalli immunizzati con il vaccino inattivato formulato con il sierotipo 9. Le risposte sierologiche nelle due specie animali si sono confermate sovrapponibili. Al challenge dell'immunità i cavalli sono risultati protetti dall'infezione e dalla malattia.

  1. Beals Syndrome

    Science.gov (United States)

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  2. [Critical study of radiculomedullary and neuromuscular complications of ankylosing spondylitis].

    Science.gov (United States)

    Serratrice, G; Acquaviva, P; Pouget, J; Guerra, L

    1987-03-01

    Medullo-radicular and neuro-muscular involvements of ankylosing spondylarthritis, often reported in an analytic fashion in the literature, deserve to be the subject of a critical study. Various neurological manifestations secondary to exceptional atlo-occipital and sometimes axis-atlas subluxations and medullary lesions as well as syndromes of the cauda equina. The medullary lesions have an epidural origin (3 cases in the literature, 2 cases from the authors) or are secondary to a spondylodiscitis (4 cases in the literature) or secondary to both (1 case reported by the authors). As for syndromes of the cauda equina the authors report 3 cases to be added to the 55 published previously. It concerns always old spondylarthritis. The lesions combine posterior diverticula and lesions of the lamina. The treatment is usually ineffective. A special case is represented by forms with trophic disorders. More debatable are the radicular lesions, which, except for intercostal pain, should be linked to local pain. Electromyographic abnormalities are of no significance. Alterations of the paravertebral muscles viewed on the scanner X have, for now, an uncertain significance. Finally, various associations, without significance such as multiple sclerosis, diffuse muscular lesions and the classic spondylotic pseudo-tabes, should be rejected.

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

    OpenAIRE

    P.B. Escodro; P.F.R. Lopes; C.G. Gianini; D.N. Jorge Filho

    2010-01-01

    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 trans...

  4. 脑瘫痉挛性马蹄足腓肠肌组织化学和超微结构观察%Histochemical and Electron Microscopic Study of Gastrochemius Muscles in Spastic Equina of Cerebral Palsy

    Institute of Scientific and Technical Information of China (English)

    胡月光; 唐彦萍; 陈华军; 薛黔; 胡雪梅

    1995-01-01

    Twenty-four biopsy specimens of the gastrochemius muscles were taken from 12 surgical treated cases with spastic equina deformity. There were examined histochemically by myosin ATP ase method and studied ultra-structurally. The histochemical change is that the type I fibers, slow-twitch fibers, occupy a significantly higher proportion than control, and offten gather together to form type grouping. Ultra-structural abnormalities were found in all of the 24 specimens. The results showed that the surgical treatment of spastic equina deformity was usually ineffective in long term, because there was not only disorder of the central nervous system but also the change of the muscle fiber types.%对24个脑瘫痉挛性马蹄足经手术治疗后的腓肠肌标本进行肌球蛋白ATP酶组化研究和超微结构观察.组织化学的主要改变是Ⅰ型肌纤维(慢缩纤维)比例增多和Ⅰ型肌纤维的聚集,全部标本均可见到超微结构异常.结果表明,脑瘫痉挛性马蹄足外科手术治疗远期效果不佳,除中枢神经系统失调外,还与腓肠肌肌纤维型转变有关.

  5. Auriculotemporal Syndrome (Frey Syndrome).

    Science.gov (United States)

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  6. Double-level Incomplete Spinal Cord Injuries: A case report

    Directory of Open Access Journals (Sweden)

    Saeed Bin Ayaz

    2014-04-01

    Full Text Available Brown-Séquard Syndrome is a type of Incomplete Spinal Cord Injury characterized by a relatively greater ipsilateral loss of proprioception and motor function, with contralateral loss of pain and temperature sensations. The residual deficits in balance produced by such injury may render a person liable to fall that may result in vertebral fracture and another injury to the spinal cord. We present here a case who initially had Brown-Séquard Syndrome due to penetrating knife injury to the neck and later on developed Cauda Equina Syndrome (another Incomplete Spinal Cord Injury due to fractured LV1 following a fall. The fracture was fixed through Pedicle Screws and the patient underwent effective rehabilitation to gain maximum achievable independence in functional activities. [Cukurova Med J 2014; 39(2.000: 392-398

  7. Bi Syndrome (Arthralgia Syndrome)

    Institute of Scientific and Technical Information of China (English)

    ZHANG En-qin

    2010-01-01

    @@ The word 'Bi' (痹) in Chinese means an obstruction.Bi Syndrome refers the syndrome characterized by the obstruction of qi and blood in the meridians due to the invasion of external pathogenic wind, cold and dampness, manifested as soreness, pain, numbness,heavy sensation, swelling of joints and limbs, limitation of movements and so on.

  8. Marfan Syndrome

    Science.gov (United States)

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

  9. 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.

  10. Perfil de suscetibilidade antimicrobiana e presença do gene vapA em Rhodococcus equi de origem humana, ambiental e equina

    Directory of Open Access Journals (Sweden)

    Lilian Kolling Girardini

    2013-06-01

    macrolídeos (azitromicina a 6,7%, eritromicina a 6% e claritromicina a 3,3% e rifamicina (13%. Todas as amostras humanas e ambientais foram sensíveis aos macrolídeos e rifamicina. Contudo, isolados ambientais demonstraram níveis elevados de resistência à penicilina e cloranfenicol. Da mesma forma, os isolados humanos apresentaram alto nível de resistência ao ceftiofur, lincomicina e sulfazotrim. O IRMA em todos os isolados de R. equi variou de 0 a 0,67, tendo como valores médios 0,19 para as amostras clínicas de equinos, 0,14 nas ambientais e em isolados humanos foi de 0,1. Apesar da alta sensibilidade observada nos isolados analisados, verificaram-se diferentes níveis de resistência nas amostras clínicas de equinos. Em contraste, os isolados ambientais não demonstraram resistência em relação aos agentes antimicrobianos utilizados na terapia da rodococose equina. Além disso, em isolados humanos não se observou resistência contra a droga para uso restrito em terapia de humano. Com base no IRMA observado em isolados clínicos de equinos, destacamos a importância de medidas restritivas e mais cautela na utilização de antimicrobianos em infecções causadas por R. equi para evitar o aumento de novas cepas multirresistentes.

  11. Turner Syndrome

    Science.gov (United States)

    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 ...

  12. 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 ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  13. Cushing's Syndrome

    Science.gov (United States)

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  14. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  15. National Down Syndrome Society

    Science.gov (United States)

    ... info@ndss.org Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... More » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  16. Learning about Marfan Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Marfan Syndrome What is Marfan syndrome? What are the ... Syndrome Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most ...

  17. Dumping Syndrome

    Science.gov (United States)

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  18. Evaluación del riesgo de introducción de peste equina africana a países del cono sur sudamericano por importación de animales vivos

    Directory of Open Access Journals (Sweden)

    A Marcos

    2015-01-01

    Full Text Available La Peste Equina Africana (PEA es una de las tres enfermedades exóticas al cono sur sudamericano que ha sido identificada como potencial generador de cuantiosas pérdidas económicas y sociales en caso de que se introduzca en la región. Este trabajo presenta los resultados de un análisis de riesgo cuantitativo de introducción de PEA en la región por medio de la importación legal de equinos vivos de Europa y bajo el supuesto de que ocurra una epidemia no detectada en el país de origen y durante la fase silente de la epidemia. Los resultados sugieren que el riesgo de que se produzca tal evento es bajo y que, en caso de una epidemia en el país de origen, para aquellos animales que se encontraban en tránsito al momento de la detección y debido a que el establecimiento de origen permanece negativo, una prueba serológica negativa podría ser suficiente para mitigar el riesgo de introducción. Estos resultados sugieren también que la legislación vigente en la región y debido a las condiciones epidemiológicas actuales, es suficiente para prevenir el ingreso de PEA.

  19. Treatment of Posttraumatic Abdominal Autonomic Neuropathy Manifesting as Functional Dyspepsia and Chronic Constipation: An Integrative East-West Approach.

    Science.gov (United States)

    Shubov, Andrew; Taw, Lawrence

    2015-07-01

    A 52-year-old male with a history of spinal cord injury and cauda equina syndrome resulting in neurogenic bladder presented with chronic constipation and functional dyspepsia that was refractory to medical management. He was treated with an integrative East-West approach including acupuncture, trigger point injections, and Tui Na massage. Both his pain and constipation improved after a series of treatments, and this improvement was largely sustained at 2-year follow-up. This patient's symptoms are consistent with damage to the visceral parasympathetic nervous system. Interestingly, many studies evaluating the mechanisms of acupuncture point to restoration of parasympathetic tone as a mechanism of action. In this article, we describe a case of complex functional gastrointestinal disorders associated with posttraumatic autonomic neuropathy that was refractory to pharmacotherapy and was successfully treated with an integrative East-West approach. PMID:26331105

  20. Idiopathic Lumbar Epidural Lipomatosis Mimicking Disc Herniation: A Case Report.

    Science.gov (United States)

    Duran, Efe; Ilik, Kemal; Acar, Turker; Yıldız, Melda

    2016-05-01

    Spinal epidural lipomatosis is a rare condition which is described as the accumulation of fat in the extradural territory and often causes dural impingement. Spinal epidural lipomatosis has been implicated in causing a variety of neurologic impairments ranging from back pain, radiculopathy, claudication, myelopathy or even cauda equina syndrome. We report a 46-year-old female with obesity and a history of chronic back pain and radiculopathy who developed idiopathic Spinal epidural lipomatosis diagnosed by magnetic resonance imaging. The purpose of this report is to present a case of spinal epidural lipomatosis presenting with symptomatic cord compression and also remind this rare condition as a the differential diagnosis of epidural lesions in patients with risk factors. PMID:27309484

  1. Refeeding syndrome.

    Science.gov (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  2. Osteosarcoma of the lumbosacral spine invading the central venous pathways, right-sided cardiac chambers, and pulmonary artery

    Energy Technology Data Exchange (ETDEWEB)

    Hines, Neely; Lantos, George; Hochzstein, Jay [Jacobi Medical Center/Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Gitig, Alon [Montefiore Medical Center/Albert Einstein College of Medicine, Department of Cardiology, Bronx, NY (United States); DeAnda, Abe [Montefiore Medical Center/Albert Einstein College of Medicine, Department of Cardiothoracic Surgery, Bronx, NY (United States)

    2007-11-15

    We report an unusual case of lumbosacral osteogenic sarcoma with cauda equina syndrome and invasion into the central venous and cardiac system. A 41-year-old Hispanic man presented to the emergency department complaining of severe low back pain, cauda equina syndrome, bilateral lower extremity edema, and an extra heart sound on physical examination. CT of the lumbosacral spine done in the emergency department demonstrated a sclerotic lesion in the sacrum with cortical destruction, extension into the spinal canal and a bulky soft tissue mass containing calcifications. Supplemental MRI demonstrated marrow replacement of L4, L5, and the sacrum, soft tissue extension of the tumor, and invasion iliac veins extending into the IVC; however, the full extent of the intravascular tumor was not seen on this examination. Surgical laminectomy and biopsy of the spinal tumor provided the diagnosis of osteogenic sarcoma. A transthoracic echocardiogram was performed while the patient was recovering due to nonsustained ventricular tachycardia, which showed an echogenic mass within the right atrium and ventricle. CT pulmonary angiogram confirmed the echocardiogram showing a tumor extending through the pulmonary valve into the main pulmonary artery. The patient underwent en bloc resection of the tumor from the venous and cardiac systems. Histologic examination of the tumor confirmed osteogenic sarcoma. While vertebral osteogenic sarcoma is uncommon, invasion of the spinal canal is common in these tumors. However, tumor extending into the central venous and cardiac system is rare. The previously reported cases of central venous and cardiac involvement have been related to distant metastases or primary cardiac osteosarcomas. There is only one other reported case of direct extension into the venous system by an iliac bone osteosarcoma in an adolescent; however, the tumor did not extend into the pulmonary circulation. (orig.)

  3. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are ho...

  4. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  5. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    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.

  6. Sweet Syndrome

    OpenAIRE

    Kasapçopur, Özgür; Sever, Lale; Çalışkan, Salim; Kodakoğlu, Ramazan; Mat, Cem; Kaner, Gültekin; Arısoy, Nil

    1996-01-01

    Sweet syndrome is a vasculitis characterized with fever leucocytosis neutrophilia and dermal neutrophilic infiltration In children Sweet syndrome usually occurs with secondary to infection and in adults to malignancy We report a Sweet syndrome in a five years old girl with respiratory infections otitis dactylitis long lasting fever and cutaneous rash A neutrophilic dermal infiltration is noted in cutaneous biopsy These signs have disappeared with corticosteroid treatment In conclusion Sweet s...

  7. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-03-01

    Full Text Available Brugada syndrome is characterized by sudden death associated with one of several ECG patterns including incomplete right bundle-branch block and ST-segment elevation in the anterior precordial leads. According to the ECG patterns there are three types of Brugada syndrome. Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases. Nowadays implantation of cardioverter-defibrillator is the only proven method of sudden cardiac death prevention.

  8. Replicación viral y producción de óxido nítrico y malondialdehído en cultivos celulares y ratones tratados preventivamente con melatonina, minociclina y ácido ascórbico infectados por el virus de encefalitis equina venezolana

    OpenAIRE

    Salazar de Acosta, Jenny

    2011-01-01

    El virus de Encefalitis Equina Venezolana (EEV) ha causado extensas epidemias a lo largo de América del Sur, sobre todo en Venezuela. Afecta, con una alta morbilidad, el sistema nervioso central (SNC) en humanos y equinos. Existen sustancias antioxidantes que interactúan con los radicales libres retardando la oxidación; entre ellas se encuentran la Melatonina (MLT), la Minociclina (MIN) y el Ácido ascórbico (AA). Se plantea determinar el efecto in vitro e in vivo de la MLT, MIN y AA sobre la ...

  9. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... How Can I Help a Friend Who Cuts? Marfan Syndrome KidsHealth > For Teens > Marfan Syndrome Print A ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, ...

  10. What Is Down Syndrome?

    Science.gov (United States)

    ... NDSS Home » Down Syndrome » What Is Down Syndrome? What Is Down Syndrome? In every cell in the ... chromosome 21 causes the characteristics of Down syndrome. What Causes Down Syndrome? Regardless of the type of ...

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

    Directory of Open Access Journals (Sweden)

    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.

  12. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  13. 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....

  14. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  15. Bloom's Syndrome

    Science.gov (United States)

    ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ...

  16. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  17. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  18. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  19. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  20. 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...

  1. Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjeev K. Digra, Deep Aman Singh, Vikram Gupta, Ghanshyam Saini

    2004-10-01

    Full Text Available We report a 11 year old boy and his father both Noonan’s. Noonan syndrome occurs in 1 out of 2000live births. Short stature, webbing of neck, pectus carinatum or pectus excavatum, hypertelorismcubitus valgus, epicanthus, downward slanted palpebral fissures, ptosis, microganthia and earabnormalities are the common features of Noonan syndrome.

  2. Urodynamic profile of patients with neurogenic bladder following non-traumatic myelopathies

    Directory of Open Access Journals (Sweden)

    Anupam Gupta

    2013-01-01

    Full Text Available Objective: To observe the urodynamic profile of the patients following non-traumatic myelopathies (NTMs with neurogenic bladder. Setting: Neurological rehabilitation department of university tertiary research hospital. Materials and Methods: Seventy-nine patients (44 men with monophasic NTM, with the age range 8-65 years (31.0 ± 16.0 years, were admitted for inpatients′ rehabilitation. Length of stay in rehabilitation ranged from 6 to 120 days (32.0 ± 24.8 days. Fifty-six patients (70.9% had spinal lesion above D10, 17 had lesion between D10 and L2 (21.5%, and 6 (7.6% had cauda equina syndrome. All patients had neurogenic bladder with urinary complaints. Urodynamic study (UDS was performed in all patients. Results: UDS showed 71.4% patients (40/56 had neurogenic detrusor overactivity (NDO with or without sphincter dyssynergy (DSD with lesion above D10; only 52.9% patients (9/17 had NDO with or without DSD detrusor with lesion between D10 and L2; and majority (5/6 patients had underactive detrusor in the cauda equina group. Bladder management was based on the UDS findings. No significant correlation was found (P > 0.05 between detrusor behavior and the level, severity (ASIA Impairment Scale of spinal injury, or gender using chi-square test. Conclusions: Neurogenic bladder following NTM was observed in all patients. UDS suggested predominantly NDO in lesions above D10 and mixed pattern in between D10 and L2 lesions. No significant correlation was found between detrusor behavior and the level or severity of NTM in the study.

  3. Kounis syndrome.

    Science.gov (United States)

    Ntuli, P M; Makambwa, E

    2015-10-01

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

  4. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  5. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  6. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  7. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  8. Gardner Syndrome

    Science.gov (United States)

    ... syndromes. For more information, talk with an assisted reproduction specialist at a fertility clinic. How common is ... detected X-ray or computed tomography (CT or CAT) scan of the small bowel if adenomas are ...

  9. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  10. Piriformis syndrome

    Science.gov (United States)

    ... Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... medical help immediately if: You have sudden severe pain in your lower back or legs, along with muscle weakness or numbness ...

  11. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  12. Pendred Syndrome

    Science.gov (United States)

    ... Health & Human Services National Institutes of Health Search Search form Search A–Z Index Español Menu Home ... children, the thyroid is important for normal growth and development. Children with Pendred syndrome, however, rarely have problems ...

  13. [Refeeding syndrome].

    Science.gov (United States)

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

    2016-01-01

    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.

  14. Turner Syndrome

    OpenAIRE

    Ramachandran Sudarshan; G Sree Vijayabala; KS Prem Kumar

    2012-01-01

    Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate th...

  15. Pendred's syndrome

    International Nuclear Information System (INIS)

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  16. Laminectomy-induced arachnoradiculitis: a postoperative serial MRI study

    Energy Technology Data Exchange (ETDEWEB)

    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.

  17. 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.

  18. Burning Mouth Syndrome

    Science.gov (United States)

    ... OralHealth > Topics > Burning Mouth Syndrome > Burning Mouth Syndrome Burning Mouth Syndrome Main Content Key Points Symptoms Diagnosis Primary and Secondary BMS Treatment Helpful Tips Key Points Burning mouth syndrome is burning pain in the mouth that may ...

  19. Learning about Down Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... Down syndrome? People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and ...

  20. Exogenous Cushing syndrome

    Science.gov (United States)

    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 ...

  1. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Turner Syndrome: Other FAQs Skip sharing on social media links ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  2. Modelo de suspensão pela cauda e seu efeito em algumas propriedades mecânicas do osso do rato Model of tail suspension and its effect in some mechanical properties of the rat bone

    Directory of Open Access Journals (Sweden)

    Adriana Valadares da Silva

    2004-03-01

    Full Text Available A manutenção do metabolismo mineral normal dos ossos é um resultado de vários fatores inclusive das solicitações mecânicas que são aplicadas aos ossos pelas contrações musculares e pela força da gravidade. O propósito desta investigação foi estudar um modelo de suspensão de rato pela cauda que simulasse assim as alterações esqueléticas que podem acontecer em um ambiente de microgravidade. O modelo foi analisado em termos de tolerância do animal e dos efeitos sobre a resistência mecânica do complexo tíbia-fíbula. Após a realização do ensaio de flexão em três pontos, foram obtidos os principais parâmetros mecânicos (carga e deflexão no limite máximo, carga e deflexão no limite elástico, rigidez e resiliência. Foram utilizadas cinqüenta e três ratas fêmeas, distribuídas em quatro grupos conforme o período de suspensão (controle, 7, 14 e 21 dias. O modelo de suspensão mostrou-se eficaz com boa adaptação dos animais e promoveu um enfraquecimento significativo nos ossos principalmente no período de 21 dias.The maintenance of the normal metabolism of minerals in the bone is a result of several factors including the mechanical demands that are applied to the bones by muscle contractions and gravity force. The proposal of this investigation was to study a model of tail suspension of rats thus simulating the skeletal alterations that may occur in a microgravity environment. The model was analyzed in terms of animal tolerance and the ensuing effects on the mechanical resistance of the tibiofibular complex. After a three-point bending test in flexion the main mechanical parameters were obtained, (load and deflection at the ultimate limit, load and deflection at the yielding point, stiffness and resilience. 53 adult female rats were used and distributed in four groups according to the length of time in suspension (control, 7, 14 and 21 days. The model of suspension was efficient with good animals adaptation and it

  3. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    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.

  4. Antiphospholipid syndrome.

    Science.gov (United States)

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  5. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  6. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  7. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  8. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    -to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato......Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right...

  9. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  10. Rapunzel syndrome

    International Nuclear Information System (INIS)

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  11. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  12. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  13. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  14. Eagle syndrome

    International Nuclear Information System (INIS)

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  15. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  16. Morbihan syndrome.

    Science.gov (United States)

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-04-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).

  17. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  18. Burnout syndrome

    OpenAIRE

    Bábská, Simona

    2014-01-01

    This bachelor thesis deals with the so-called burnout syndrome, which, as I believe, is getting to be a serious problem in today´s busy world. This issue deserves a full attention especially from those concerned – workers in assisting professions. What usually precedes the burnout syndrome is a big enthusiasm and motivation for work in which a potential patient can help other people and get them out of their troubles, sometimes he /she feels even like having a mission. However, without kno...

  19. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

    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. Althou

  20. Sincronização do estro mediante utilização de acetato de medroxiprogesterona, gonadotrofina coriônica equina, benzoato de estradiol e desmame interrompido no puerpério de vacas da raça Nelore

    OpenAIRE

    Vianna, Gerson Ney de Oliveira

    2013-01-01

    Resumo: Neste estudo comparou-se dois métodos de sincronização de estro em 150 vacas Nelore, entre junho de 2007 e janeiro de 2008, no município de Janiópolis, Paraná. Foram utilizados dois protocolos de sincronização de estro. No primeiro grupo (G1), 30 dias (D30) pós-parto, foram utilizados pessários vaginais impregnados com progesterona. No D38, foram retirados os pessários, aplicou-se 500 UI de gonadotrofina coriônica equina (eCG) e os bezerros foram separados das mães durante 48 horas. N...

  1. Marfan syndrome masked by Down syndrome?

    OpenAIRE

    Mulder, B. J.; van Engelen, K.; Vis, J.C.; Timmermans, J.; Hamel, B C 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. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;1...

  2. Metabolic Syndrome

    Science.gov (United States)

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  3. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  4. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  5. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  6. Tourette Syndrome

    Science.gov (United States)

    ... writing, painting, or making music help focus the mind on other things. There's speculation that the composer Mozart had TS. Find support. The Tourette Syndrome Association sponsors support groups with others who understand the challenges of TS. Take control. People with TS can feel more in control ...

  7. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  8. Usher Syndrome

    Science.gov (United States)

    ... of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. ... type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants ...

  9. Robinow Syndrome

    Directory of Open Access Journals (Sweden)

    Gökhan Gökalp

    2010-05-01

    Full Text Available Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra, costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia. It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome.Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion.Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings. (Journal of Current Pediatrics 2010; 8: 44-7

  10. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  11. 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 are High blood pressure High blood glucose, or blood sugar, levels High levels of triglycerides, a type of fat, in your blood Low ...

  12. [Refeeding syndrome].

    Science.gov (United States)

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

    2016-01-01

    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. PMID:27088791

  13. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  14. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  15. Resposta ovariana de cabras submetidas a implantes de progesterona seguidos de aplicações de gonadotrofina coriônica equina Ovarian response of goats submitted to implants of progesterone followed by administration of equine corionic gonadotrophin

    Directory of Open Access Journals (Sweden)

    Luis Fernando Uribe-Velásquez

    2010-06-01

    Full Text Available Objetivou-se comparar os efeitos de diferentes doses de gonadotrofina coriônica equina (eCG na dinâmica folicular e nas concentrações hormonais em cabras alpinas. Durante a estação reprodutiva, as cabras foram submetidas à sincronização do estro e da ovulação com um dispositivo de progesterona por 14 dias. As cabras (n=24 foram divididas aleatoriamente, em quatro grupos de seis e, no dia da remoção do dispositivo, receberam 0 (controle, 200, 300 e 400 UI de eCG. O desenvolvimento folicular foi observado via ultrassonografia um dia antes da administração da eCG até a ovulação seguinte. Determinaram-se diariamente as concentrações plasmáticas de estradiol e progesterona por radioimunoensaio. Todos os animais tratados manifestaram estro. Observaram-se ciclos estrais com três e quatro ondas de crescimento folicular. O tamanho do maior folículo nos animais controle na terceira onda (5,5 ± 0,50 mm foi menor que naqueles tratados com 300 UI de eCG (7,17 ± 0,35 mm. A aplicação de gonadotrofina aumentou o número de folículos pequenos e médios em relação ao grupo controle, uma vez que o número médio de corpos lúteos foi maior nas fêmeas tratadas com 400 UI (4,27 ± 0,23 em comparação àquelas tratadas com 200 UI (1,95 ± 0,19. A concentração plasmática de progesterona e estradiol diferiu entre os grupos experimentais. A combinação de progestágenos e eCG é uma alternativa adequada para a sincronização do estro e suporta o desenvolvimento de novos protocolos de técnicas reprodutivas, como a superovulação e a transferência de embriões em cabras.The objective of the present study was to compare the effect of different dosages of equine chorionic gonadotrophin (eCG on the follicular dynamics and hormonal concentrations in Alpine goats. During the breeding season, the goats were submitted to estrous and ovulation synchronization with a device containing progesterone for 14 days. Female goats (n=24 were divided

  16. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  17. Pleuroneumonía Equina (Equine Pleuropneumonia

    Directory of Open Access Journals (Sweden)

    Aguilera-Tejero, Escolástico

    2009-03-01

    Full Text Available ResumenLa pleuroneumonía es un problema frecuente en el caballo. Esta enfermedad consiste en colonización bacteriana del parénquima pulmonar, desarrollo de una neumonía o abscesos pulmonares y la consiguiente extensión del proceso hacia la pleura visceral y el espacio pleural provocando pleuritis. Generalmente, su desarrollose asocia con cualquier condición que favorezca la aspiración de secreciones faríngeas o impida su eliminación (transporte, enfermedades víricas, ejercicio extenuante, anestesia general, etc. Los signos clínicos pueden variar según se trate de un problema agudo o crónico, predominando en el primer caso: fiebre, letargia,descarga nasal, tos, intolerancia al ejercicio, disnea y leurodinia. En los casos crónicos suele aparecer fiebre intermitente, pérdida de peso y edema subesternal El diagnóstico se basa fundamentalmente en la ecografía de la región torácica y el análisis microbiológico y citológico de las secreciones traqueales y pleurales. Su tratamiento se centra en antibioterapia sistémica para inhibir el crecimientobacteriano, drenaje del exceso de líquido pleural (en los casos que dificulte la capacidad respiratoria del animal o sea claramente séptico, administración de terapia antiinflamatoria y analgésica y tratamiento de soporte a base de fluidoterapia, oxigenoterapia y broncodilatadores. El pronóstico de la pleuroneumonía es favorable en los casos que se identifican precozmente y reciben tratamientoagresivo, empeorando mucho en casos crónicos o con complicaciones como la laminitis, colitis asociada a antibióticos y trombosis yugular. Las principales secuelas de este proceso incluyen la formación de abscesos pulmonares, fístulas broncopleurales,neumotórax, y pericarditis restrictiva.SummaryPleuropneumonia is a frequent and severe disease in the horse. It is produced by the bacterial colonization of pulmonary parenchyma, development of pneumonia or pulmonary abscesses and subsequent extension of the infection to the visceral pleura and pleural cavity, which causes pleuritis. Risk factors include transport, viral infections, exhausting exercise, general anesthesia, and any condition that enhances aspiration of oropharyngeal microrganisms or that impairs their clearance. Clinical signs may vary in acute or chronic diseases. In acute pleuropneumonia, horses havefever, lethargy, nasal discharge, cough, exercise intolerance, dispnea and pleurodinia. In chronic cases, intermittent fever, weight loss and subesternal edema are more frequent. Diagnosis is based mainly in thoracic ultrasonography and in the cytologicand biochemical analysis and culture of the pleural and tracheal fluids. Treatment consists on administration of systemic antibiotics to inhibit bacterial growth, removal of excessive pleural fluid, antiinflammatory and analgesic drugs, and supportive care (fluid therapy, oxygen and bronchodilators. Prognosis can be favorable when the disease is identified early and aggressive treatment is provided. In chronic cases or when complications like laminitis, colitis or thrombosis develop, prognosis is guarded to poor. The most common sequelae of pleuropneumonia are pulmonary abscesses,bronchopleural fistulae, pneumothorax and restrictive pericarditis.

  18. Pleuroneumonía Equina (Equine Pleuropneumonia)

    OpenAIRE

    Aguilera-Tejero, Escolástico; Díez-de Castro, Elisa; Mayer-Valor, Rafael

    2009-01-01

    ResumenLa pleuroneumonía es un problema frecuente en el caballo. Esta enfermedad consiste en colonización bacteriana del parénquima pulmonar, desarrollo de una neumonía o abscesos pulmonares y la consiguiente extensión del proceso hacia la pleura visceral y el espacio pleural provocando pleuritis. Generalmente, su desarrollose asocia con cualquier condición que favorezca la aspiración de secreciones faríngeas o impida su eliminación (transporte, enfermedades víricas, ejercicio extenuante, ane...

  19. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  20. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  1. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  2. Marfan syndrome.

    OpenAIRE

    Jain, Eesha; Pandey, Ramesh Kumar

    1997-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ sy...

  3. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  4. Waardenburg syndrome

    OpenAIRE

    Tagra Sunita; Talwar Amrita; Walia Rattan Lal; Sidhu Puneet

    2006-01-01

    Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features ...

  5. Turner Syndrome

    OpenAIRE

    Akcan AB.

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includ...

  6. Robinow Syndrome

    OpenAIRE

    Gökhan Gökalp; Erdal Eren; Zeynep Yazıcı; Halil Sağlam

    2010-01-01

    Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic si...

  7. Apert's Syndrome

    OpenAIRE

    Kumar, Gudipaneni Ravi; Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite...

  8. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  9. Asperger syndrome

    OpenAIRE

    Woodbury-Smith, Marc R.; Volkmar, Fred R.

    2008-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  10. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Rachel Bastiaenen

    2011-12-01

    Full Text Available The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers of arrhythmic events is advancing rapidly alongside sequencing technologies. We expect that the future will include risk stratification according to genotype and management tailored to the genetic diagnosis.

  11. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  12. Reye syndrome - resources

    Science.gov (United States)

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  13. Narcotic Bowel Syndrome

    Science.gov (United States)

    ... Intolerance Malabsorption Narcotic Bowel Syndrome Radiation Therapy Injury Short Bowel Syndrome Symptoms & Causes Treatments Nutrition and Diet Managing Secondary Effects Medications Surgery Daily Living with SBS Resources SMA Syndrome Volvulus ...

  14. Iliotibial band syndrome - aftercare

    Science.gov (United States)

    IT band syndrome - aftercare; Iliotibial band friction syndrome - aftercare ... If you have iliotibial band syndrome you may notice: Mild pain on the outside of your knee when you begin to exercise, which goes ...

  15. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  16. Central Pain Syndrome

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  17. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  18. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  19. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  20. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  1. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  2. Rett Syndrome

    OpenAIRE

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a t...

  3. [Ascher's syndrome].

    Science.gov (United States)

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  4. [Piriformis syndrome].

    Science.gov (United States)

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  5. Griscelli syndrome.

    Science.gov (United States)

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  6. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  7. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  8. CREST Syndrome

    OpenAIRE

    Tuğçe Köksüz; Zeynep Nurhan Saraçoğlu; Ayşe Esra Koku-Aksu; İlham Sabuncu; Cengiz Korkmaz

    2014-01-01

    We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were ...

  9. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  10. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

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

    Institute of Scientific and Technical Information of China (English)

    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.

  12. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  13. Myasthenic syndromes.

    Science.gov (United States)

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  14. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  15. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Tropical Delight: Melon Smoothie Pregnant? Your Baby's Growth Marfan Syndrome KidsHealth > For Parents > Marfan Syndrome Print A ... the Doctor en español Síndrome de Marfan About Marfan Syndrome Marfan syndrome is a progressive genetic disorder ...

  16. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

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

    2014-01-01

    -intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications......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......-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family...

  17. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  18. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  19. 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. PMID:27250821

  20. [Hepatopulmonary syndrome].

    Science.gov (United States)

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  1. Antiphospholipid syndrome.

    Science.gov (United States)

    George, Diane; Erkan, Doruk

    2009-01-01

    The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

  2. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  3. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Rett syndrome Rett syndrome Enable Javascript to view the expand/collapse ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  4. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? ... suggests that you consult your health care provider. PRENATAL TESTS FOR DOWN SYNDROME 256 Volume 50, No. ...

  5. Nevoid Basal Cell Carcinoma Syndrome

    Science.gov (United States)

    ... Nevoid Basal Cell Carcinoma Syndrome Request Permissions Nevoid Basal Cell Carcinoma Syndrome Approved by the Cancer.Net Editorial Board , 04/2016 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is ...

  6. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    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. PMID:27209717

  7. Mobbing syndrome

    Directory of Open Access Journals (Sweden)

    Sakoula Z.

    2014-07-01

    Full Text Available Introduction: The term mobbing comes from the English word mob, meaning attack, Compass bother. Today is the systematic psychological attack and a strategic marginalization accepted at the workplace from their superiors or colleagues unwanted, for various reasons, employees. The term was used in 1800 by British biology, description of aggressive behavior in flight, certain species of migratory birds. In 1900, ethologist Konrad Lorenz uses it to interpret the hostility of the majority of the herd, compared to lean animals of the same breed. The German psychologist Heinz Leyman, is the first, which is in the 80s, attributes the condition in human society, describing all the negative health effects of mobbing in the workplace as a "syndrome mobbing». Purpose: To work is to illustrate the phenomenon mobbing, which can appear as a problem in the relationship of the perpetrator to the victim, but also implies the presence of such conditions to occur and flourish. Literature Review: searched the literature, internet, Keyword: Work or Employee Abuse, Mistreatment, Emotional Abuse, Bossing, Victimization, Intimidation, Psychological terrorization, Psychological violence. The mobbing syndrome is defined as "repeated abusive behavior, manifested through actions, words, intimidation, acts, gestures, ways of organizing work and have the character or purpose to offend the personality, dignity or physical or mental integrity of the worker in the performance of his work, to jeopardize the employment status or to create a hostile, intimidating, degrading, humiliating or offensive working environment. According to the French psychiatrist Marie France Hirigoyen, the "offender" is a personality that satisfied 'hurting' his fellows and develops self-esteem, conveying to others the "pain" that cannot feel, but also the internal contradictions that refuses edited. Conclusions: the mobbing is the reason for the development of mental and physical diseases as an

  8. Leigh syndrome

    International Nuclear Information System (INIS)

    A male infant developed hypotonia at 5 months, vomiting, diarrhea, fever, generalized clonic convulsion, tonic spasm and periodical opisthotonus at 8 months, swallowing difficulty at 10 months, pes equinovarus and optic atrophy at 11 months, and then tachypnea, and died at 14 months of age. Parents were consanguinous. Laboratory studies revealed elevated serum LDH, CPK, lactate and Pyruvate. TPP-ATP phosphoryl transferase inhibitor was negative in urine. EEG showed irregular and diffuse slow waves and periodic diffuse spike and waves. CT scan at 9 months of age showed slightly low attenuation areas in the putamen bilaterally. At 11 months, a diffuse cerebral atrophy was found, and the low attenuation of the basal ganglia became more definite. No enhanced lesion was seen at 13 months of age. Thiamine tetra-hydrofurfuryl disulfide and lipoic acid were tried without success. The pathological findings of the brain were astrogliosis and proliferation of capillaries in putamen, thalamus, caudate neucleus, substantia nigra, pontine brachium and cerebral cortex, which were symmetrically involved. The symmetrical cavitation was found in putamen. Optic nerve and mamillary body were spared. CT scan findings corresponded well with the pathology of the necrotic lesions of the brain. It was concluded that these CT scan pictures described above may be diagnostic of Leigh syndrome. (author)

  9. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  10. 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

    Directory of Open Access Journals (Sweden)

    M. T. Teruel

    2006-12-01

    Full Text Available 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 (PThe aim of this study was to evaluate the effect of different doses of equine gonatotropin hormone (eCG (5, 7.5 or 10 IU on the ovary response and in vitro embryo development in Balb C mice. The ovary weight and diameter increased for 7.5 and 10 IU of eCG compared to control group (P0.05. In vitro, the differentiation was not modified by the dose level. The hatching rate at 96 h was higher for embryos from 7.5 IU compared to 10 IU (82.22 vs 64.39, P<0.05. We concluded that, the percentage of normal oocytes and morulae and the differentiation rate are not dependent of the dose of eCG, however, the hatching in vitro is dose eCG dependent.

  11. Milk-alkali syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  12. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Rett syndrome? Skip sharing on social media links Share this: ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  13. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  14. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Reality Donate to Research Reality Fund October is Rett Syndrome Awareness Month Rettsyndrome.org is excited to provide ... Website What’s in Your State? For Families: Find Rett syndrome related resources in your state! State Resources Rettsyndrome. ...

  15. Androgen insensitivity syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001180.htm Androgen insensitivity syndrome To use the sharing features on this page, please enable JavaScript. Androgen insensitivity syndrome (AIS) is when a person who ...

  16. Restless Legs Syndrome Foundation

    Science.gov (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  17. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  18. Munchausen syndrome by proxy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001555.htm Munchausen syndrome by proxy To use the sharing features on this page, please enable JavaScript. Munchausen syndrome by proxy is a mental illness and a form of ...

  19. Down Syndrome: Education

    Science.gov (United States)

    ... Kit Financials Newsroom Shop NDSS Home » Resources » Education Education This section includes information about inclusion, elementary and ... and postsecondary options for students with Down syndrome. Education & Down Syndrome This section provides an overview and ...

  20. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  1. Treacher Collins syndrome

    Science.gov (United States)

    Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families ( ...

  2. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Movie: Digestive System Winter Sports: Sledding, ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  3. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  4. Abdominal Pain Syndrome

    Science.gov (United States)

    ... inspection of a drop of urine), and urine culture for bacterial infection. Stools can be analyzed for ... Hepatitis C Inflammatory Bowel Disease Irritable Bowel Syndrome Obesity Digestive Health Topics Abdominal Pain Syndrome Belching, Bloating, ...

  5. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  6. Turner Syndrome (For Parents)

    Science.gov (United States)

    ... special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical ... and prompt him or her to order a karyotype. Results that indicate Turner syndrome show 45 chromosomes ...

  7. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    2008-01-01

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management consist

  8. Metabolic Syndrome and Migraine

    OpenAIRE

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, ...

  9. PRES syndrome

    International Nuclear Information System (INIS)

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  10. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  11. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  12. Familial Crouzon syndrome

    OpenAIRE

    Y Samatha; T Harsha Vardhan; A Ravi Kiran; A J Sai Sankar; B Ramakrishna

    2010-01-01

    Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  13. The acute radiation syndrome

    International Nuclear Information System (INIS)

    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.)

  14. What Is Usher Syndrome?

    Science.gov (United States)

    ... into electrical impulses that transfer messages to the brain. How is Usher syndrome inherited? Usher syndrome is ... required for the child to be affected. A person with only one copy of the gene is a ... in deafness and deaf-blindness, but are not related to Usher syndrome. ...

  15. Stiff skin syndrome.

    Science.gov (United States)

    Geng, S; Lei, X; Toyohara, J P; Zhan, P; Wang, J; Tan, S

    2006-07-01

    Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features. PMID:16836505

  16. Fragile X Syndrome Overview

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Overview Skip sharing on social media links Share ... menu on the left. ​ Common Name Fragile X syndrome or Fragile X Medical or Scientific Names Martin-Bell syndrome Last ...

  17. CANDLE syndrome: a recently described autoinflammatory syndrome.

    Science.gov (United States)

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  18. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  19. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  20. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Goldman Michel

    2007-09-01

    Full Text Available Abstract Hypereosinophilic syndromes (HES constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant, or to increased interleukin (IL-5 production by a clonally expanded T cell population (lymphocytic variant, most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic

  1. Poland-Möbius syndrome.

    OpenAIRE

    Parker, D. L.; Mitchell, P. R.; Holmes, G. L.

    1981-01-01

    A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two syndromes. The association of the Poland syndrome and the Möbius syndrome occurs with sufficient frequency that the combination probably represents a formal genesis malformation syndrome of unknown aetiology that should be designated the Poland-Möbius syndrome.

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

    Energy Technology Data Exchange (ETDEWEB)

    Pistevou-Gompaki, K.; Paraskevopoulos, P.; Kotsa, K. [Theagenion Cancer Center, Thessaloniki (Greece); Skaragas, G.; Repanta, E. [Saint Paul`s Hospital, Thessaloniki (Greece)

    1996-10-01

    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).

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

    International Nuclear Information System (INIS)

    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)

  4. Polyradiculopathies from Schwannomatosis

    OpenAIRE

    Jia, Yuxia; Kraus, James A.; Reddy, Hasini; Groff, Michael; Eric T Wong

    2011-01-01

    We describe a case of schwannomatosis presenting as radicular pain and numbness in multiple radicular nerve distributions. There were multiple peripheral nerve tumors detected by magnetic resonance imaging (MRI) at the left vestibular nerve, cauda equina, right radial nerve, thoracic paraspinal nerve, and brachial plexi. Several resected tumors have features of schwannomas, including hypercellular Antoni A areas, hypocellular Antoni B areas, Verocay bodies, and hyalinized blood vessels. The s...

  5. GEBELİKLE SEMPTOMATİKLEŞEN MİKSOPAPİLLER EPANDİMOM

    OpenAIRE

    Bölük, Dr. Ayhan

    1998-01-01

    The cauda equina is the most frequent location for epandymomas, particularly the myxopapillary variant, which generally arises from the filum terminale. Delays in arriving at the proper diagnosis have been the rule. This condition has been improved after the magnetic resonance imaging (MRI). We describe the clinical findings and MR imaging of a case of myxopapllary epandimoma arising in the filum terminate of a pregnant woman. She become symptomatic during after first pregnancy. She was opera...

  6. Hybrid schwannoma/perineurioma of the spinal nerve: Multifocal occurrence, and recurrence as an intraneural perineurioma

    OpenAIRE

    Hayashi, Tomayoshi; Hirose, Takanori; Nishimura, Yukimasa.; Fukuoka, Junya; Kishikawa, Masao

    2013-01-01

    A 63-year-old Japanese man complained of lower back pain and numbness and was diagnosed as intradural tumors at the T11/12 and L1 level. The thoracic tumor originated from the posterior nerve root, and the lumbar tumor originated from the cauda equina. Five months after surgical resection, the patient developed recurrent tumor consisting of enlargement of multiple caudal nerves. Pathologically, the primary tumors showed a nodular and lobular pattern, including spindle cells in a fascicular, w...

  7. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  8. Hérnia discal lombar Lumbar disc herniation

    Directory of Open Access Journals (Sweden)

    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

  9. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  10. Hemolytic Uremic Syndrome in Children

    Science.gov (United States)

    ... KB)​​​​​ Alternate Language URL Hemolytic Uremic Syndrome in Children Page Content On this page: What is hemolytic ... spine. [ Top ] What causes hemolytic uremic syndrome in children? The most common cause of hemolytic uremic syndrome ...

  11. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  12. Genetics Home Reference: Rotor syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Rotor syndrome Rotor syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Rotor syndrome is a relatively mild condition characterized by ...

  13. Features of Fragile X Syndrome

    Science.gov (United States)

    ... Figuring Out CGG Repeats! Donate | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic condition that causes ... health concerns associated with the condition. Features of Fragile X Syndrome in Males Read our Story The majority of ...

  14. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  15. Fat embolism syndrome

    OpenAIRE

    Jacob George; Reeba George; Dixit, R; Gupta, R C; Gupta, N.

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonar...

  16. Cannabinoid Hyperemesis Syndrome

    OpenAIRE

    Galli, Jonathan A.; Sawaya, Ronald Andari; Friedenberg, Frank K.

    2011-01-01

    Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointes...

  17. Understanding Brugada syndrome.

    Science.gov (United States)

    Gehshan, Janine Mary; Rizzolo, Denise

    2015-06-01

    Brugada syndrome is an established cause of sudden cardiac arrest in patients without structural cardiac abnormalities. Recognition and diagnosis of this syndrome has been slowly increasing. Syncope, ventricular dysrhythmia, or sudden cardiac arrest may be the presenting symptom, although detection of the characteristic right precordial ST-segment elevation on ECG can be a potentially lifesaving intervention. This article reviews the clinical presentation, pathophysiology, genetics, and current management of Brugada syndrome. PMID:25932713

  18. Posterior Reversible Encephalopathy Syndrome

    OpenAIRE

    J Gordon Millichap

    2013-01-01

    Investigators at Children's Hospital of Montefiore, Albert Einstein College of Medicine, NY, determined the incidence of posterior reversible encephalopathy syndrome (PRES) in a pediatric critical care unit.

  19. Short Bowel Syndrome

    Science.gov (United States)

    ... may include nutritional support medications surgery intestinal transplant Nutritional Support The main treatment for short bowel syndrome is nutritional support, which may include the following: Oral rehydration. Adults ...

  20. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  1. Neonatal abstinence syndrome

    Science.gov (United States)

    ... JR, Isemann B, Ward LP, et al. Current management of neonatal abstinence syndrome secondary to ... MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of ...

  2. Laugier-Hunziker syndrome.

    Science.gov (United States)

    Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V

    2012-05-01

    Laugier-Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier-Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier-Hunziker syndrome with its differential diagnosis.

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

    Energy Technology Data Exchange (ETDEWEB)

    Baur, A.; Staebler, A.; Reiser, M. [Department of Diagnostic Radiology, Klinikum Grosshadern, Ludwig-Maximilians-Universitaet, Marchioninistrasse 15, D-81 377 Munich (Germany); Psenner, K. [Department of Diagnostic Radiology, Allgemeines Regionalkrankenhaus Bozen (Italy); Hamburger, C. [Department of Neurosurgery, Klinikum Grosshadern, Ludwig-Maximilians-Universitaet, Marchioninistrasse 15, D-81 377 Munich (Germany)

    1997-10-01

    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.

  4. Do you know this syndrome? *

    OpenAIRE

    Rosmaninho, A.; Pinto-Almeida, T.; Fernandes, I; Machado, S; Selores, M.

    2013-01-01

    Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), d...

  5. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    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)

  6. Comportamento mecânico do terço proximal de fêmures de ratos após período de suspensão pela cauda e exercitação Mechanical behavior of rats' femoral proximal thirds after a period of tail suspension and exercises

    Directory of Open Access Journals (Sweden)

    Marcos Massao Shimano

    2007-01-01

    Full Text Available A remodelação óssea pode ser estimulada por forças mecânicas presentes nas atividades físicas normais. Neste trabalho foi analisado o comportamento mecânico do terço proximal de fêmur de ratas submetidas à suspensão pela cauda e posterior treinamento em esteira. Sessenta e seis ratas da raça Wistar foram usadas. Primeiramente os animais foram criados por noventa dias e divididos em cinco grupos (dois controles e três experimentais. Os animais do grupo Controle I foram sacrificados com 118 dias de idade. No grupo S (suspenso os animais foram suspensos pela cauda por 28 dias e sacrificados. No grupo Controle II os animais foram sacrificados com 139 dias de idade. No grupo S-L (suspenso-liberado as ratas foram liberadas 21 dias após a suspensão. No grupo S-T (suspenso-treinado após o período de suspensão os animais passaram por treinamento em esteira durante 21 dias. Para análise do comportamento mecânico do osso foi aplicada uma força vertical na cabeça femoral até a ruptura. A fratura foi analisada por raios-X. A suspensão causou um decréscimo da força máxima e, o treinamento e a liberação após a suspensão causaram a recuperação das propriedades mecânicas. Mas, o padrão de fratura não apresentou diferença entre os grupos experimentais.Bone remodeling can be stimulated by mechanical forces present in normal physical activities. In the present research, we investigated the mechanical behavior of the proximal femur of rats previously maintained in tail suspension and later, submitted to physical exercise on a treadmill. Sixty-six Wistar rats were used. Firstly, the animals were raised until the age of ninety days and then divided into five groups (two control groups and three experimental groups. The animals allocated to Control I group were killed at 118 days of age. In the S group, the animals were suspended by tail for 28 days. In Control II group, the animals were killed at 139 days of age. In group S

  7. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  8. Bronchiectasis and Marfan's syndrome.

    OpenAIRE

    Foster, M E; Foster, D R

    1980-01-01

    Marfan's syndrome is a rare hereditary disorder characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary abnormalities occur in approximately 10% of patients the commonest being spontaneous pneumothorax and emphysema. A patient is described who had Marfan's syndrome and bronchiectasis, an association only described on 2 previous occasions in the literature.

  9. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  10. Syndrome in question*

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  11. Syndrome in Question.

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  12. Syndrome in question*

    OpenAIRE

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.

  13. MECP2 Duplication Syndrome

    DEFF Research Database (Denmark)

    Signorini, Cinzia; De Felice, Claudio; Leoncini, Silvia;

    2016-01-01

    Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients...

  14. Klippel-Feil Syndrome

    Science.gov (United States)

    ... such as Klippel-Feil Syndrome and open promising new avenues for treatment. NIH Patient Recruitment for Klippel-Feil Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 March of Dimes 1275 Mamaroneck Avenue ...

  15. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and self-ne

  16. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  17. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  18. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous sys

  19. Epidemiology of Down Syndrome

    Science.gov (United States)

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  20. Restless Legs Syndrome

    Science.gov (United States)

    ... Us FAQs Home » Health Information for the Public » Health Topics » Restless Legs Syndrome Explore Restless Legs Syndrome What Is... Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Living With Clinical Trials Links Related Topics Insomnia Sleep Deprivation and Deficiency Sleep Studies Send a ...

  1. Juvenile polyposis syndrome

    NARCIS (Netherlands)

    L.A.A. Brosens; D. Langeveld; W.A. van Hattem; F.M. Giardiello; G.J.A. Offerhaus

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a

  2. Polycystic ovarian syndrome

    OpenAIRE

    Nina Madnani; Kaleem Khan; Phulrenu Chauhan; Girish Parmar

    2013-01-01

    Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examinatio...

  3. Apert Syndrome. Case Report

    Directory of Open Access Journals (Sweden)

    Ninecta Pérez Breña

    2010-08-01

    Full Text Available The case of a white female aged 7 is evaluated in the Primary Care Service of the Barrio Adentro medical mission in Nueva Esparta state, Republic of Venezuela. After a clinical and radiological evaluation she is diagnosed with a genetic syndrome known as Apert Syndrome.

  4. Peripheral nerve hyperexcitability syndromes.

    Science.gov (United States)

    Küçükali, Cem Ismail; Kürtüncü, Murat; Akçay, Halil İbrahim; Tüzün, Erdem; Öge, Ali Emre

    2015-01-01

    Peripheral nerve hyperexcitability (PNH) syndromes can be subclassified as primary and secondary. The main primary PNH syndromes are neuromyotonia, cramp-fasciculation syndrome (CFS), and Morvan's syndrome, which cause widespread symptoms and signs without the association of an evident peripheral nerve disease. Their major symptoms are muscle twitching and stiffness, which differ only in severity between neuromyotonia and CFS. Cramps, pseudomyotonia, hyperhidrosis, and some other autonomic abnormalities, as well as mild positive sensory phenomena, can be seen in several patients. Symptoms reflecting the involvement of the central nervous system occur in Morvan's syndrome. Secondary PNH syndromes are generally seen in patients with focal or diffuse diseases affecting the peripheral nervous system. The PNH-related symptoms and signs are generally found incidentally during clinical or electrodiagnostic examinations. The electrophysiological findings that are very useful in the diagnosis of PNH are myokymic and neuromyotonic discharges in needle electromyography along with some additional indicators of increased nerve fiber excitability. Based on clinicopathological and etiological associations, PNH syndromes can also be classified as immune mediated, genetic, and those caused by other miscellaneous factors. There has been an increasing awareness on the role of voltage-gated potassium channel complex autoimmunity in primary PNH pathogenesis. Then again, a long list of toxic compounds and genetic factors has also been implicated in development of PNH. The management of primary PNH syndromes comprises symptomatic treatment with anticonvulsant drugs, immune modulation if necessary, and treatment of possible associated dysimmune and/or malignant conditions. PMID:25719304

  5. Kleine Levin Syndrome

    Directory of Open Access Journals (Sweden)

    Abdul Wahid Khan, Zia Ud Din, Abdul Salam

    2002-07-01

    Full Text Available A case of Kleine Levin Syndrome is presented. Episodic course with spontaneous remission of eachepisode and characteristic features of hypersomnia, hyperphagia, disinhibited behavior. affective featureslike ilTitability and cognitive disturbance made the diagnosis of Kleine Levin syndrome 111 ourpatient.

  6. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    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.

  7. Fragile X syndrome.

    OpenAIRE

    Wiebe, E.; A. Wiebe

    1994-01-01

    Fragile X syndrome is the most common form of inherited mental retardation. Only recently has it been possible to detect all carriers and transmitters. We review the syndrome and discuss the pedigree of a large fragile X family. Family doctors should identify cases in their practices so genetic counseling can be offered to the families.

  8. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  9. 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.

  10. [Frey syndrome in childhood].

    Science.gov (United States)

    Clarós, P; González-Enseñat, M A; Arimany, J; Vincente, M A; Clarós, A

    1993-01-01

    Frey's syndrome is distinguished by the appearing of erythema, sensation of hotness, sometimes pain, and transpiration discharge in the preauricular and temporal area when ingestion stars. We present an eleven month old child with this pathology and we review the etiology and clinic manifestations of this syndrome. PMID:8129975

  11. [Schizophrenia or Asperger syndrome?].

    Science.gov (United States)

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning.

  12. [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.

  13. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

    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)

  14. Syndrome in question: Gorlin-Goltz syndrome*

    Science.gov (United States)

    Ribeiro, Pauline Lyrio; de Souza Filho, João Basílio; de Abreu, Karina Demoner; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome. PMID:27579759

  15. Medical-surgical treatment of progressive tuberculous (Pott's) paraplegia in Gabon.

    Science.gov (United States)

    Loembe, P M

    1995-10-01

    The present study deals with the results of the medical-surgical treatment of 22 patients with Pott's tetraplegia or paraplegia. Seventeen had progressive tetraplegia-paraplegia which failed to respond solely to medical treatment. On admission, four patients exhibited an acute onset tetraplegia-paraplegia, and one had a 'spinal tumour syndrome'. In addition to antituberculous therapy, seven patients had anterior spinal surgery, consisting of four corporectomies, two anterior debridments and grafting, and one debridment alone. Moreover, one patient had a posterior interbody fusion, four had laminotomies, and 10 had laminectomies. The causes of the spinal cord or cauda equina compression, as was determined at operation, were extradural abscess in eight patients, bony compressions in 11, arachnoiditis in two, and posterior neural arch tuberculosis in one patient. Neurological recovery began between 10 and 21 days postoperatively. The mean length of follow-up was 42.36 months (range 8-144 months). Fourteen patients were found to be functionally and neurologically normal at follow-up examinations (63%). Eighty-two percent recovered sufficiently to walk unaided. Two patients were left paralysed and unable to walk. Two patients were able to get about on crutches. The onset of objective improvement soon after surgical decompression suggests a causal effect. It was concluded that early neural decompression and spinal stabilisation provided the maximum potential for neurological recovery. PMID:8848312

  16. Intradural herniation of a thoracic disc presenting as left radicular pain and left drop foot

    Directory of Open Access Journals (Sweden)

    Takuji Matsumoto

    2015-09-01

    Full Text Available Intradural disc herniation is a rare pathological entity. Normally, it is associated with severe neurological deficits, including compression syndrome of the spinal cord or cauda equina. Intradural disc herniations comprise 0.26% to 030% of all herniated discs. Overall, 5% are found in the thoracic region, 3% in the cervical region, and 92% in the lumbar region. Although intradural disc herniation may be suspected preoperatively because of myelography, computed tomography, and magnetic resonance imaging results, establishing the diagnosis before surgery is difficult. We report a patient with thoracic intradural disc herniation at T11-12 who presented with left radicular pain and left drop foot. Preoperative magnetic resonance imaging, computed tomography, and myelography failed to demonstrate an intradural lesion. The patient underwent T11-L1 dorsal hemilaminectomy with lateral extension to the left side. The herniation was identified only intraoperatively during inspection of the thecal sac. The disc was removed surgically, and the operation was performed safely under intraoperative spinal cord monitoring. The patient had a good neurological recovery. She remains pain-free 2 years after the surgery.

  17. Asymptomatic Multiple Lymphomatous Polyposis Identified during Staging Bidirectional Endoscopy of Mantle Cell Lymphoma

    Directory of Open Access Journals (Sweden)

    Sonja P. Dawsey

    2016-10-01

    Full Text Available Multiple lymphomatous polyposis (MLP as an extranodal manifestation of mantle cell lymphoma (MCL in the gastrointestinal tract is rare and not often reported in the literature. We describe the case of a 63-year-old female with asymptomatic MLP found during staging bidirectional endoscopy of MCL. The patient presented only with dyspnea, but was found on physical exam to have diffuse lymphadenopathy, and subsequent positron emission tomography (PET CT showed extensive lymph node adenopathy consistent with lymphoma. Excisional lymph node biopsy revealed high-risk MCL. Prior to therapy, staging bidirectional endoscopy was performed, which revealed duodenal bulb polyps and diffuse polyposis in the colon. Biopsies showed atypical lymphoid infiltrate identical to the initial excisional lymph node biopsy. The patient underwent aggressive induction therapy, chemotherapy and bone marrow transplantation. Four months later, repeat colonoscopy and biopsies showed normal mucosa, and repeat PET CT showed no evidence of systemic disease. Eight months later, the patient began having symptoms consistent with cauda equina syndrome, and she was found to have leptomeningeal recurrence of MCL. In spite of other medical treatment, the patient’s MCL progressed and she passed away 3 years after the initial presentation.

  18. Dumbell hydatid disease of spine with posterior paraspinal muscle involvement

    Directory of Open Access Journals (Sweden)

    Jagadale Ranjeet Ramesh

    2015-09-01

    Full Text Available Spinal hydatid disease is a rare form of hydatid disease caused by the larval form of Echinococcus granulosus (E. granulosus. Dogs are primarily the definitive hosts of E. granulosus with man and sheep serving as intermediate hosts. Spinal HD contributes to approximately 45 % of all skeletal hydatid disease cases. Spinal HD is perhaps the worst form of parasitic infestations associated with morbidity requiring surgical correction. Braithwaite and Lees have classified spinal hydatids into five types (1 intramedullary (2 intradural extramedullary (3 extradural intraspinal disease (4 vertebral hydatid (5 paravertebral hydatid. When hydatid disease from spinal canal extends into retroperitoneal space through the neural foramen, it gives dumbell formation (similar to nerve sheath tumors. Symptoms of hydatid are mainly due to compressive effects of the cyst, low back pain accompanying motor weakness, sensory disturbances, bowel and bladder disturbances and cauda equina syndrome. Extensive vertebral hydatidosis can cause fractures of vertebrae. Serology tests are used in diagnosing suspected cases of hydatid disease. MRI with soft tissue detail is more preferable than other modalities in diagnosing spinal hydatid. Successful treatment of spinal hydatid disease necessitates adequate neuroimaging evaluation, careful surgical removal without spillage of cystic components and adding adjuvant chemotherapy in few cases is the mainstay of treatment. Sometimes when it is difficult to retrieve all the cysts in toto, debulking is advised.

  19. Evaluation and treatment of acute low back pain.

    Science.gov (United States)

    Kinkade, Scott

    2007-04-15

    Acute low back pain with or without sciatica usually is self-limited and has no serious underlying pathology. For most patients, reassurance, pain medications, and advice to stay active are sufficient. A more thorough evaluation is required in selected patients with "red flag" findings associated with an increased risk of cauda equina syndrome, cancer, infection, or fracture. These patients also require closer follow-up and, in some cases, urgent referral to a surgeon. In patients with nonspecific mechanical low back pain, imaging can be delayed for at least four to six weeks, which usually allows the pain to improve. There is good evidence for the effectiveness of acetaminophen, nonsteroidal anti-inflammatory drugs, skeletal muscle relaxants, heat therapy, physical therapy, and advice to stay active. Spinal manipulative therapy may provide short-term benefits compared with sham therapy but not when compared with conventional treatments. Evidence for the benefit of acupuncture is conflicting, with higher-quality trials showing no benefit. Patient education should focus on the natural history of the back pain, its overall good prognosis, and recommendations for effective treatments. PMID:17477101

  20. A portable powered ankle-foot orthosis for rehabilitation

    Directory of Open Access Journals (Sweden)

    K. Alex Shorter, PhD

    2011-05-01

    Full Text Available Innovative technological advancements in the field of orthotics, such as portable powered orthotic systems, could create new treatment modalities to improve the functional outcome of rehabilitation. In this article, we present a novel portablepowered ankle-foot orthosis (PPAFO to provide untethered assistance during gait. The PPAFO provides both plantar flexor and dorsiflexor torque assistance by way of a bidirectional pneumatic rotary actuator. The system uses a portable pneumatic power source (compressed carbon dioxide bottle and embedded electronics to control the actuation of the foot. We collected pilot experimental data from one impaired and three nondisabled subjects to demonstrate design functionality. The impaired subject had bilateral impairment of the lower legs due to cauda equina syndrome. We found that data from nondisabledwalkers demonstrated the PPAFO’s capability to provide correctlytimed plantar flexor and dorsiflexor assistance during gait. Reduced activation of the tibialis anterior during stance and swing was also seen during assisted nondisabled walking trials. An increase in the vertical ground reaction force during the second half of stance was present during assisted trials for the impaired subject. Data from nondisabled walkers demonstrated functionality, and data from an impaired walker demonstrated the ability to provide functional plantar flexor assistance.

  1. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... Syndrome Life Support Network Gorlin Syndrome Group National Organization for Rare Disorders (NORD) GeneReviews (1 link) Nevoid Basal Cell Carcinoma Syndrome Genetic Testing Registry (1 link) Gorlin syndrome Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  2. Genetics Home Reference: Majeed syndrome

    Science.gov (United States)

    ... the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps ... NORD): Osteomyelitis National Organization for Rare Disorders (NORD): Sweet Syndrome GeneReviews (1 link) Majeed Syndrome Genetic Testing Registry ( ...

  3. Sweet's syndrome with idiopathic thrombocythemia

    OpenAIRE

    Kaszewski, Sebastian; Czajkowski, Rafał; Protas-Drozd, Franciszka; Placek, Waldemar; Jakubowski, Sebastian

    2014-01-01

    Diagnosis of paraneoplastic skin syndromes associating neoplastic processes is assumed as the crucial aspect of dermatological practice. Knowledge of clinical findings of dermatoses suggesting coincidence of malignant proliferative processes facilitates diagnostic and therapeutic procedures. We would like to present a case of Sweet's syndrome, qualified for comparative paraneoplastic skin syndromes. Sweet's syndrome, acute, febrile neutrophilic dermatosis, was first described by Robert Dougla...

  4. Cannabinoid hyperemesis syndrome.

    Science.gov (United States)

    Galli, Jonathan A; Sawaya, Ronald Andari; Friedenberg, Frank K

    2011-12-01

    Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointestinal tract and CNS. Tetrahydrocannabinol, cannabidiol, and cannabigerol are three cannabinoids found in the cannabis plant with opposing effects on the emesis response. The clinical course of Cannabinoid Hyperemesis Syndrome may be divided into three phases: prodromal, hyperemetic, and recovery phase. The hyperemetic phase usually ceases within 48 hours, and treatment involves supportive therapy with fluid resuscitation and anti-emetic medications. Patients often demonstrate the learned behavior of frequent hot bathing, which produces temporary cessation of nausea, vomiting, and abdominal pain. The broad differential diagnosis of nausea and vomiting often leads to delay in the diagnosis of Cannabinoid Hyperemesis Syndrome. Cyclic Vomiting Syndrome shares several similarities with CHS and the two conditions are often confused. Knowledge of the epidemiology, pathophysiology, and natural course of Cannabinoid Hyperemesis Syndrome is limited and requires further investigation. PMID:22150623

  5. Recurrent Miller Fisher syndrome.

    Science.gov (United States)

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  6. Mosaicism in Stickler syndrome

    OpenAIRE

    Stevenson, David A.; Vanzo, Rena; Damjanovich, Kristy; Hanson, Heather; Muntz, Harlan; Hoffman, Robert O.; Bayrak-Toydemir, Pinar

    2012-01-01

    Stickler syndrome is a heterogeneous condition due to mutations in COL2A1, COL11A1, COL11A2, and COL9A1. To our knowledge, neither non-penetrance nor mosaicism for COL2A1 mutations has been reported for Stickler syndrome. We report on a family with two clinically affected sibs with Stickler syndrome who have clinically unaffected parents. Both sibs have a novel heterozygous mutation in exon 26 of COL2A1 (c.1525delT); this results in a premature termination codon downstream of the mutation sit...

  7. Iliotibial band friction syndrome.

    Science.gov (United States)

    Lavine, Ronald

    2010-07-20

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy.

  8. Testicular Feminization Syndrome

    Directory of Open Access Journals (Sweden)

    Vaneet Kour, Ajay Abrol

    2005-01-01

    Full Text Available Testicular feminization syndrome or androgen insensitivity syndrome is a rare disorder with anincidence of 1:20,000-64,000 male births. The individual with complete form of this syndrome (CIAShave female external genitalia while those with partial form (PIAS have variable ambiguity ofgenitalia and often need extensive reconsructive surgery. The diagonosis should be suspected infemale child with inguinal hernia or presenting with primary ammenorrohea and on examinationthere is no vagina with absent axillary or pubic hair. Awareness of this entity is important as withearly diagonosis such disorder can be managed appropriately and accurate information can begiven to parents regarding long term issues of harmone replacement therapy and fertility.

  9. [Plummer-Vinson syndrome].

    Science.gov (United States)

    Munyó, J C; Leborgne, F; Regules, J E

    1978-01-01

    The Plummer-Vinson syndrome is very uncommon in Latin America. Four cases showing the clinical-radiological and hematological features of this syndrome are described. Three cases were treated with esophageal dilatation and Ferro therapy. The radiological evaluation may show deformities in the faringo-esophageal lumen other than the esophageal webs, such as hypertrophy of the cricopharingeal sphincter and of the retrocricoid venous plexus as well as the demonstration of esophageal webs in the patients without symptoms or signs of the Plummer Vinson Syndrome.

  10. [Refeeding syndrome: practical issues].

    Science.gov (United States)

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  11. Ehlers-Danlos syndrome

    Science.gov (United States)

    Possible complications of Ehlers-Danlos syndrome include: Chronic joint pain Early-onset arthritis Failure of surgical wounds to close (or stitches tear out) Premature rupture of membranes during pregnancy ...

  12. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...

  13. ADHD & Down Syndrome

    Science.gov (United States)

    ... at an accredited sleep center. What Types of Communication Difficulties Can Look Like ADHD? People with Down ... Down syndrome have a wide range of learning styles. A child's educational team may need to try ...

  14. RESTLESS LEGS SYNDROME

    Directory of Open Access Journals (Sweden)

    Dmitriy Valer'evich Artem'ev

    2009-01-01

    Full Text Available The paper describes the epidemiology, etiology, pathogenesis, clinical picture, diagnosis, differential diagnosis, and treatment of restless legs syndrome. Recommendations are given how to choose therapeutic modalities and drugs in relation to different factors.

  15. Cardiorenal Syndromes and Sepsis

    Directory of Open Access Journals (Sweden)

    C. Chelazzi

    2011-01-01

    Full Text Available The cardiorenal syndrome is a clinical and pathophysiological entity defined as the concomitant presence of renal and cardiovascular dysfunction. In patients with severe sepsis and septic shock, acute cardiovascular, and renal derangements are common, that is, the septic cardiorenal syndrome. The aim of this paper is to describe the pathophysiology and clinical features of septic cardiorenal syndrome in light of the actual clinical and experimental evidence. In particular, the importance of systemic and intrarenal endothelial dysfunction, alterations of kidney perfusion, and myocardial function, organ “crosstalk” and ubiquitous inflammatory injury have been extensively reviewed in light of their role in cardiorenal syndrome etiology. Treatment includes early and targeted optimization of hemodynamics to reverse systemic hypotension and restore urinary output. In case of persistent renal impairment, renal replacement therapy may be used to remove cytokines and restore renal function.

  16. Cutaneous nerve entrapment syndrome

    Institute of Scientific and Technical Information of China (English)

    DongFuhui

    2004-01-01

    The cutaneous nerve entrapment syndrome is named that, the cutaneous nerve's functional disorder caused by some chronic entrapment, moreover appears a series of nerve's feeling obstacle,vegetative nerve function obstacle, nutrition obstacle, even motor function obstacle in various degree.

  17. Blind loop syndrome

    Science.gov (United States)

    ... operations for extreme obesity As a complication of inflammatory bowel disease Diseases such as diabetes or scleroderma may slow down movement in a segment of the intestine, leading to blind loop syndrome.

  18. Dumping syndrome (image)

    Science.gov (United States)

    Dumping syndrome occurs when the contents of the stomach empty too quickly into the small intestine. The ... causing nausea, cramping, diarrhea, sweating, faintness, and palpitations. Dumping usually occurs after the consumption of too much ...

  19. Treacher Collins Syndrome

    Science.gov (United States)

    ... cleft palate is a frequently associated conditions this syndrome. Cleft palate itself sometimes can cause feeding problems and increase the risk of middle ear problems. Your child’s primary care provider or cleft palate or craniofacial ...

  20. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H

    1999-01-01

    Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

  1. PIRIFORMIS SYNDROME: A REVIEW

    Directory of Open Access Journals (Sweden)

    Subhasis Ranjan

    2014-04-01

    Full Text Available Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. The diagnosis of piriformis syndrome is made by clinical features, electromyography and nerve conduction velocity, computed tomography, magnetic resonance imaging and bone scan. Management of piriformis syndrome includes nonsurgical and surgical interventions. Non-surgical management includes- nonsteroidal anti-inflammatory drugs, physical therapy, ultrasound, correction of biomechanical abnormality, lifestyle modifications, local anesthetic and/or steroid injection into the piriformis muscle. Surgical management includes-surgical release of piriformis muscle and decompression of the sciatic nerve. Piriformis Syndrome- a review.

  2. Catastrophic Antiphospholipid Syndrome.

    Science.gov (United States)

    El-Shereef, Rawhya R; El-Abedin, Zein; Abdel Aziz, Rashad; Talat, Ibrahim; Saleh, Mohammed; Abdel-Samia, Hanna; Sameh, Amro; Sharha, Mahmoud

    2016-01-01

    This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS). Management of this patient is discussed in detail. PMID:27375916

  3. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... with X-linked Alport Syndrome will show abnormal staining for COL4A5 in the skin biopsy. This approach ... and enzyme tests are performed on cultured tissue cells and/or white blood cells. During amniocentesis, a ...

  4. Congenital nephrotic syndrome

    Science.gov (United States)

    The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early ...

  5. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... Maintain a healthy weight and avoid obesity. Use your CPAP or BiPAP treatment as your provider prescribed.

  6. What is Metabolic Syndrome?

    Science.gov (United States)

    ... becoming more common due to a rise in obesity rates among adults. In the future, metabolic syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or delay ...

  7. Sudden Infant Death Syndrome

    Science.gov (United States)

    Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call ... boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although health ...

  8. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...

  9. Rubinsten Taybi Syndrome

    Directory of Open Access Journals (Sweden)

    J. Jannati

    2008-01-01

    Full Text Available Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder with unknown mode of inheritance. "nThis syndrome characterized by Broad terminal phalange of the thumbs and /or hallucess broad terminal phalanges of other fingers, characteristic facies (small head, beaked nose, hypertelorism, antimongoloid slant of the palpebral fissures, strabismus, high arch palate, abnormalities of ears, mental and motor retardation."nRadiologic manifestations are short and wide terminal phalanx of thumbs and great toes, flaring of iliac (small iliac index, and skeletal maturation retardation."nLarge foramen magnum, congenital heart disease, urinary tract anomalies, prominent forehead, vertebral anomalies, sternal anomalies, dislocation of patella, syndactyly, polydactyly, absence of corpus callosum are other reported anomalies."nThe radiologic manifestations of this syndrome are discussed in this case report.

  10. Anesthesia & Down Syndrome

    Science.gov (United States)

    ... has been more aggressive early cardiac intervention. Other congenital (present at birth) issues requiring early surgical intervention in Down syndrome populations include esophageal, gastrointestinal and urinary tract problems. Correction of these problems and early, aggressive ...

  11. Vogt koyanagi harada syndrome

    Directory of Open Access Journals (Sweden)

    Amin S

    1992-01-01

    Full Text Available A case of Vogt Koyanagi Harada syndrome is reported. The depigmented macules appeared initially over eyebrows and around both eyes after an episode of fever and then rapidly involved almost the entire body within 6 months.

  12. Cardio Renal Syndrome

    Directory of Open Access Journals (Sweden)

    KV Sahasranam

    2014-10-01

    Full Text Available For a long time, physicians have recognized that the kidney and the heart are related especially when there is severe dysfunction of either of them. Dysfunction of one of these organs seldom occurs in isolation. Of late the cardio renal syndrome is assuming significance because of its increasing incidence, awareness and complications. There is no definite definition of the cardio renal syndrome. However, an attempted definition states that it is a "decline in renal function in the setting of advanced heart failure". This definition does not cover the whole gamut of the cardio renal syndrome. Cardiac diseases are associated independently with a decrease in renal function and progression of existing renal disease. Chronic Kidney disease (CKD is an independent risk factor for cardiovascular events and outcome. This bidirectional nature of cardiac and renal interaction is called Cardio Renal Syndrome (CRS.

  13. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense;

    2016-01-01

    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  14. Multiple Mucosal Neuroma Syndrome

    Directory of Open Access Journals (Sweden)

    Thami Gurvinder P

    1997-01-01

    Full Text Available A case of multiple mucosal neuroma syndrome recently classified as Multiple Endocrinal Neoplasia (MEN, type 2b, is reported for its rarity and importance of diagnosis at an early age.

  15. Obesity Hypoventilation Syndrome

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih- ... NHLBI Research Featured in HBO Documentary Series on Obesity Hear people talk about their challenges and successes ...

  16. Neonatal respiratory distress syndrome

    Science.gov (United States)

    ... syndrome (RDS) is a problem often seen in premature babies. The condition makes it hard for the ... a slippery substance in the lungs called surfactant. This substance helps the lungs fill with air ...

  17. Blueberries and Metabolic Syndrome

    Science.gov (United States)

    Metabolic Syndrome is a cluster of metabolic disorders that increase the risk of cardiovascular diseases. Type 2 diabetes, elevated blood pressure, and atherogenic dyslipidemia are among the metabolic alterations that predispose the individual to several adverse cardiovascular complications. The hea...

  18. Aging male syndrome

    Directory of Open Access Journals (Sweden)

    Valer Donca

    2012-12-01

    Full Text Available Aging Male Syndrome is a medical condition through which men could pass between the ages of 35 and 65, when testosterone levelsin their body decline considerably. Androgen deficiency in the aging male has become a topic of increasing interest and debate throughout theworld. In contrast to female menopause, the process of aging in the male genital system is slow and highly variable between individuals. Thecharacteristic symptoms of Aging Male Syndrome include weakness, depression, fatigue and changes in body hair and skin, decreased sexualdesire, decreased lean body mass accompanied by increased visceral fat, decreased bone mineral density. Aging Male Syndrome is usually diagnosedby testing the blood for testosterone levels. The usual treatment method for Aging Male Syndrome includes testosterone injections,testosterone patches, testosterone gels and oral preparations.

  19. Facts about Tourette Syndrome

    Science.gov (United States)

    ... Articles & Key Findings Free Materials Info For Families Bullying Info for Health Professionals Info for Education Professionals ... 6): 497-501. Centers for Disease Control and Prevention. Prevalence of diagnosed Tourette Syndrome in persons aged ...

  20. Chronic fatigue syndrome

    Science.gov (United States)

    Bennett RM. Fibromyalgia, chronic fatigue syndrome, and myofascial pain. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 274. Engleberg NC. Chronic ...

  1. Catastrophic Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Rawhya R. El-Shereef

    2016-01-01

    Full Text Available This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS. Management of this patient is discussed in detail.

  2. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and ... difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include ...

  3. Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Munnik, S.A. de; Hoefsloot, E.H.; Roukema, J.; Schoots, J.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females a

  4. Frey's syndrome: case report.

    Science.gov (United States)

    Haker, Jacqueline M; Mandel, Louis

    2012-01-01

    Frey's syndrome is characterized by facial sweating and flushing in the parotid area when saliva is stimulated. It usually results from damage to the auriculotemporal nerve during parotidectomy. PMID:23252196

  5. Klinefelter Syndrome (For Teens)

    Science.gov (United States)

    ... role in who we are — including deciding our gender, how we look, and how we grow. Doctors ... with Klinefelter syndrome may also have problems with attention, speech development, and learning word skills like spelling, ...

  6. Atypical charles bonnet syndrome.

    Science.gov (United States)

    Arun, Priti; Jain, Rajan; Tripathi, Vaibhav

    2013-10-01

    Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision.

  7. Down Syndrome (For Parents)

    Science.gov (United States)

    ... DS based on the infant's physical characteristics, a karyotype — a blood or tissue sample stained to ... the parent of a child diagnosed with Down syndrome, you may at first feel overwhelmed by feelings ...

  8. Chronic Fatigue Syndrome

    Science.gov (United States)

    Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that ... activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You ...

  9. Impingement syndrome (image)

    Science.gov (United States)

    ... arch of the shoulder blade, it can cause shoulder pain called impingement syndrome. The tendons become compressed, damaged, and inflamed leading to rotator cuff tendonitis. This can occur ... use of the shoulder like baseball pitching, or from an injury.

  10. Parental Alienation Syndrome

    Directory of Open Access Journals (Sweden)

    Fuat Torun

    2011-09-01

    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

  11. National Reye's Syndrome Foundation

    Science.gov (United States)

    ... Syndrome The Aspirin Link Reye's & Chickenpox Reye's, Flu & H1N1 Reye's & Teens Free School Packages Report A Case of Reye's Aspirin Lists Article Library Medical Library Video Library eBooks & Apps Dick ...

  12. Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Jawa Deepti

    2009-01-01

    Full Text Available Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital.

  13. Shah-Waardenburg Syndrome

    OpenAIRE

    Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

    2013-01-01

    Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.

  14. Shah-Waardenburg syndrome.

    Science.gov (United States)

    Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

    2013-01-01

    Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. PMID:23565307

  15. Ketonuria and HELLP syndrome

    OpenAIRE

    Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris

    2009-01-01

    We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management.

  16. Ketonuria and HELLP syndrome.

    Science.gov (United States)

    Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris

    2009-01-01

    We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management. PMID:21686464

  17. Neurocutaneous syndromes; Neurokutane Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Niederstadt, T. [Universitaetsklinikum Muenster (Germany). Inst. fuer Klinische Radiologie; Kurlemann, G. [Muenster Univ. (Germany). Medizinische Fakultaet

    2007-09-15

    Neurocutaneous Syndromes or phakomatoses are a heterogenous group of congenital diseases. They are characterized by dysplasias of tissues derived from the neuroektoderm. Skin alterations may be helpful in the interpretation of cerebral lesions. Recently, the genetic and pathophysiologic alterations of many phakomatoses have been elucidated. In this paper the radiologic findings and clinical signs of the most common neurocutaneous diseases (Neurofibromatosis 1 and 2, Tuberous Sclerosis Complex and Sturge Weber Syndrome) will be discussed. (orig.)

  18. SYNDROME IN QUESTION*

    Science.gov (United States)

    Chiacchio, Nilton Di; Jasso-Olivares, Julio Cesar; Chiacchio, Nilton Gioia Di; Jacinto, José Antonio; Restrepo, Maria Victoria Suárez

    2015-01-01

    The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome. PMID:26131880

  19. Complications of nephrotic syndrome

    OpenAIRE

    Se Jin Park; Jae Il Shin

    2011-01-01

    Nephrotic syndrome (NS) is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS) in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two c...

  20. Iliotibial band friction syndrome

    OpenAIRE

    Lavine, Ronald

    2010-01-01

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for ili...

  1. Ellis Van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Shilpy S

    2007-05-01

    Full Text Available Ellis Van Creveld syndrome is a rare disorder and is a form of short-limbed dwarfism. It is an autosomal recessive disorder characterized by tetrad of disproportionate dwarfism, post-axial polydactyly, ectodermal dysplasia and heart defects. This case report presents a classical case of a seven-year-old boy with Ellis Van Creveld syndrome presented with discrete clinical findings.

  2. Tobacco and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Yatan Pal Singh Balhara

    2012-01-01

    Full Text Available Tobacco is a leading contributor to morbidity and mortality globally. Metabolic syndrome is a constellation of abdominal obesity, atherogenic dyslipidemia, raised blood pressure, insulin resistance (with and without glucose intolerance, pro-inflammatory state, and pro-thrombotic state. Tobacco use is associated with various core components of metabolic syndrome. It has been found to play a causal role in various pathways leading on to development this condition, the current article discusses various facets of this association.

  3. Parsonage-Turner Syndrome

    OpenAIRE

    Feinberg, Joseph H.; Radecki, Jeffrey

    2010-01-01

    Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive neurologic deficits of motor weakness, dysesthesias, and numbness. Although the etiology of the syndrome is unclear, it is reported in various clinical situations, including postoperatively, postinfectious, posttraumatic, and postvaccina...

  4. Popliteal artery entrapment syndrome.

    LENUS (Irish Health Repository)

    O'Leary, D P

    2010-01-01

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

  5. Sweet Syndrome in childhood.

    Science.gov (United States)

    Santos, Talita Batalha Pires dos; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; Cerqueira, Ana Maria Mosca de

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  6. Irritable bowel syndrome.

    OpenAIRE

    Beck, E.; Hurwitz, B

    1992-01-01

    1. Irritable bowel syndrome is a functional disorder of the lower intestinal tract affecting approximately 10% of the population and causing a wide range of symptoms. 2. Most cases of irritable bowel syndrome can be diagnosed in general practice on the basis of the presenting history and clinical examination but some patients may need to be referred to a gastro-enterologist for further assessment including sigmoidoscopy and barium enema. 3. The clinical picture may include symptoms of abdomin...

  7. Nasopalpebral lipoma coloboma syndrome

    Directory of Open Access Journals (Sweden)

    N Suresh Babu

    2011-01-01

    Full Text Available Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.

  8. Trisomy 13 (Patau Syndrome)

    OpenAIRE

    Masoud Poureisa

    2009-01-01

    "nDescription and Definition: Synonym: patau syndrome with an incidence of 1 in 5000 births, this syndrome is characterized by multiple congenital abnormalities involving virtually every organ system. "nAbnormalities Detectable by Ultrasound "nHoloprosencephaly "nVentriculomegaly "nEnlarged cisterna magna "nMicrocephaly "nAgenesis of the corpus callosum "nCleft lip and palate "nMidface hypoplasia "nCyclopia "nMicrophthalmia "nHypotel...

  9. Celiac Artery Compression Syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Muqeetadnan

    2013-01-01

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

  10. Laugier Hunziker syndrome.

    Science.gov (United States)

    Jabbari, Ali; Gonzalez, Mercedes E; Franks, Andrew G; Sanchez, Miguel

    2010-11-15

    Laugier Hunziker syndrome is a rare disorder that is characterized by adult-onset hyperpigmented macules of the lips, oral cavity, and fingertips. Longitudinal melanonychia is present in the majority of cases. We present a 45-year-old woman with adult-onset hyperpigmented macules of the oral cavity as well as linear melanonychia that involved multiple fingernails. The history, clinical examination, and paucity of laboratory abnormalities or systemic findings support a diagnosis of Laugier Hunziker syndrome.

  11. Asperger Syndrome in children

    OpenAIRE

    Ioannis Koutelekos; Chrysoula Valamoutopoulou

    2009-01-01

    The Asperger’s Syndrome is reported in the pervasive developmental disorders and was categorized as a separate disorder, initially in the ICD -10 (World Health Organization, 1992) and afterwards in the DSM-IV (American Psychiatric Organization, 1994). The Asperger’s Syndrome is distinguished by a team of symptoms that concern the low output in the social interaction and the communication dexterities, as well as the increased stereotypical behavior in various activities and interests.The aim o...

  12. Brooke-Spiegler syndrome.

    Science.gov (United States)

    Szepietowski, J C; Wasik, F; Szybejko-Machaj, G; Bieniek, A; Schwartz, R A

    2001-07-01

    The Brooke-Spiegler syndrome is an autosomal dominant one characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. Within a given family, some members may have cylindromas whereas others may have trichoepitheliomas or both. We describe the coexistence of trichoepithelioma papulosum multiplex (also known as epithelioma adenoides cysticum of Brooke) and cylindromas in a 30-year-old man, and discuss the relationship between these two autosomal dominant syndromes.

  13. Asperger Syndrome in children

    Directory of Open Access Journals (Sweden)

    Ioannis Koutelekos

    2009-02-01

    Full Text Available The Asperger’s Syndrome is reported in the pervasive developmental disorders and was categorized as a separate disorder, initially in the ICD -10 (World Health Organization, 1992 and afterwards in the DSM-IV (American Psychiatric Organization, 1994. The Asperger’s Syndrome is distinguished by a team of symptoms that concern the low output in the social interaction and the communication dexterities, as well as the increased stereotypical behavior in various activities and interests.The aim of this particular article that constitutes a case study is the descriptive approach of the Asperger’s Syndrome, through the study of the child behavior.The methodology that was followed in the present case-study was based on inquiring studies and reviews that were drawn from international data bases that correspond to this particular case study of syndrome Asperger in children.Results: The individuals with Asperger’ s syndrome, as well as the case study, tend to experience really big difficulties in elementary social behaviors, as failure in the development and creation of friendly relations or in the search of entertainment activities with others. Moreover, they face difficulties in the comprehension of non verbal communication (body language and the other’s expressions, the body gestures or even the eye contact.Conclusions: The precocious recognition of Asperger’s syndrome is imperative, with final objective the continuous briefing and sensitization of all health professionals, as well as the wider public, toward this syndrome. The earlier a parent foreruns for the diagnosis, the bigger probabilities they stand for a potential functional re-establishment of the syndrome.

  14. Syndrome in question*

    Science.gov (United States)

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-01-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. PMID:26982793

  15. Syndrome in question*

    OpenAIRE

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-01-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of...

  16. Syndrome in question.

    Science.gov (United States)

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-02-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. PMID:26982793

  17. Lehman syndrome: a new syndrome for pierre robin sequence.

    Science.gov (United States)

    Correia-Sá, Inês; Horta, Ricardo; Neto, Tiago; Amarante, José; Marques, Marisa

    2015-05-01

    Lehman syndrome, or lateral meningocele syndrome, is characterized by facial dysmorphism, multiple lateral meningoceles, and skeletal abnormalities. Only nine cases have been described. We present a case of a 2-year-old boy presenting with micrognathia, glossoptosis, and hypertelorism as well as associated severe obstructive sleep apnea. He was submitted to bilateral mandibular distraction with external nonresorbable devices to correct Pierre Robin sequence (PRS). Later, multiple lateral meningoceles were identified, and a diagnosis of Lehman syndrome was made. Lehman syndrome must be considered in syndromic infants with PRS. Distraction osteogenesis is a safe procedure that is effective as a first choice in the treatment of patients with Lehman syndrome presenting with micrognathia.

  18. Duane's retraction syndrome associated with morning glory syndrome.

    Science.gov (United States)

    Kawano, K; Fujita, S

    1981-01-01

    A 9-year-old boy with Duane's retraction syndrome and morning glory syndrome is presented. The right eye showed a grayish-pink optic disc, which had a deep excavation containing a white mass in its center and was surrounded by an annulus of pigment disturbance, i.e., consistent with the features of morning glory syndrome. The left eye had a congenital disturbance of ocular motility, which was typical of Duane's retraction syndrome. This is probably the first report of the association of Duane's retraction syndrome and morning glory syndrome. It is hypothesized that a noxious stimulus given at around two months of gestation was responsible for this rare association.

  19. Epidermal nevus syndromes.

    Science.gov (United States)

    Asch, Sarah; Sugarman, Jeffrey L

    2015-01-01

    The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. The majority of the extracutaneous manifestations involve the brain, eye, and skeletal systems. The CNS involvement is wide ranging and involves both clinical manifestations such as intellectual disability and seizures, as well as structural anomalies. Several subsets of ENS with characteristic features have been delineated including the nevus sebaceus syndrome, Proteus syndrome, CHILD syndrome, Becker's nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica. Advances in molecular biology have revealed that the manifestations of ENS are due to genomic mosaicism. It is likely that the varied clinical manifestations of ENS are due in great part to the functional effects of specific genetic defects. Optimal management of the patient with ENS involves an interdisciplinary approach given the potential for multisystem involvement. Of note, epidermal nevi have been associated with both benign and malignant neoplasms, and thus ongoing clinical follow-up is required.

  20. What Are the Treatments for Rett Syndrome?

    Science.gov (United States)

    ... Resources and Publications What are the treatments for Rett syndrome? Skip sharing on social media links Share this: ... 2012, from http://www.rettsyndrome.org/understanding-rett-syndrome/about-rett-syndrome [top] PubMed Health. (2010). Rett syndrome . Retrieved ...

  1. Takotsubo Syndrome: Insights from Japan.

    Science.gov (United States)

    Akashi, Yoshihiro J; Ishihara, Masaharu

    2016-10-01

    We report the history and new insights of takotsubo syndrome based on the achievements that Japanese researchers have contributed and summarize the evidence originally presented from Japan. Takotsubo syndrome is a newly described heart failure characterized by transient left ventricular dysfunction. We should be aware of this entity as a syndrome, not actual cardiomyopathy. Japanese researchers focus on the experimental approaches for clinical diagnosis and treatment of takotsubo syndrome. As representatives from a country originally naming this syndrome takotsubo, a global registry for takotsubo syndrome including Japan should be established.

  2. The Greig cephalopolysyndactyly syndrome

    Directory of Open Access Journals (Sweden)

    Biesecker Leslie G

    2008-04-01

    Full Text Available Abstract The Greig cephalopolysyndactyly syndrome (GCPS is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or

  3. Marfan syndrome: An eyesight of syndrome

    Directory of Open Access Journals (Sweden)

    Ashok Kumar

    2014-12-01

    Full Text Available Marfan syndrome (MFS, a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder.

  4. Autoimmune Basis for Postural Tachycardia Syndrome

    Science.gov (United States)

    2016-10-14

    Postural Orthostatic Tachycardia Syndrome; Postural Tachycardia Syndrome; Tachycardia; Arrhythmias, Cardiac; Autonomic Nervous System Diseases; Orthostatic Intolerance; Cardiovascular Diseases; Primary Dysautonomias

  5. Juvenile polyposis syndrome

    Institute of Scientific and Technical Information of China (English)

    Lodewijk AA Brosens; Danielle Langeveld; W Arnout van Hattem; Francis M Giardiello; G Johan A Offerhaus

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer.The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34.Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes.Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum,juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis.In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found.Both genes play a role in the BMP/TGF-beta signalling pathway.It has been suggested that cancer in juvenile polyposis may develop through the so-alled "landscaper mechanism" where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma.Recognition of this rare disorder is important for patients and their families with regard to treatment,follow-up and screening of at risk individuals.Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome.In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome.

  6. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  7. Enamel renal syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    S V Kala Vani

    2012-01-01

    Full Text Available Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky-MacGibbon syndrome. It is characterized by enamel agenesis and medullary nephrocalcinosis. This paper describes enamel renal syndrome in a female patient born in a consanguineous family.

  8. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    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…

  9. HERLYN - WERNER - WUNDERLICH SYNDROME (HWW SYNDROME): A CASE REPORT

    OpenAIRE

    Pallavi S.; Ganpat; Gaurav

    2015-01-01

    Congenital anomalies of the mullerian duct system can result in various urogenital anomalies and, Herlyn Werner Wunderlich syndrome (HWW syndrome) is one such rare anomaly . This syndrome is characterized by uterus didelphys with blind hemi vagina and ipsilateral renal agenesis . 1 it is also known as OHVIRA (Obstructed Hemi vagina with ...

  10. 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.

  11. Hypothyroidism in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Aim: Metabolic syndrome (MetS and hypothyroidism are well established forerunners of atherogenic cardiovascular disease. Considerable overlap occurs in the pathogenic mechanisms of atherosclerotic cardiovascular disease by metabolic syndrome and hypothyroidism. Insulin resistance has been studied as the basic pathogenic mechanism in metabolic syndrome. [1] This cross sectional study intended to assess thyroid function in patients with metabolic syndrome and to investigate the association between hypothyroidism and metabolic syndrome. Materials and Methods: One hundred patients with metabolic syndrome who fulfilled the National Cholesterol Education Program- Adult Treatment Panel (NCEP-ATP III criteria [ 3 out of 5 criteria positive namely blood pressure ≥ 130/85 mm hg or on antihypertensive medications, fasting plasma glucose > 100 mg/dl or on anti-diabetic medications, fasting triglycerides > 150 mg/dl, high density lipoprotein cholesterol (HDL-C 102 cms in men and 88 cms in women] were included in the study group. [2] Fifty patients who had no features of metabolic syndrome (0 out of 5 criteria for metabolic syndrome were included in the control group. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions and lipid levels and those who are under treatment for any thyroid related disorder were excluded from the study. Acutely ill patients were excluded taking into account sick euthyroid syndrome. Patients were subjected to anthropometry, evaluation of vital parameters, lipid and thyroid profile along with other routine laboratory parameters. Students t-test, Chi square test and linear regression, multiple logistic regression models were used for statistical analysis. P value < 0.05 was considered significant. Results: Of the 100 patients in study group, 55 were females (55% and 45 were males (45%. Of the 50

  12. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.

    Science.gov (United States)

    Graham, John M; Rosner, Beth; Dykens, Elisabeth; Visootsak, Jeannie

    2005-03-15

    CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due

  13. Complex Regional Pain Syndrome (CPRS)

    Science.gov (United States)

    ... a Hand Therapist? Media Find a Hand Surgeon Complex Regional Pain Syndrome - CRPS Email to a friend * ... DESCRIPTION Formerly Known as Reflex Sympathetic Dystrophy (RSD) Complex regional pain syndrome (CRPS) is a pain condition ...

  14. Latah : An indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.

    2013-01-01

    The nature of culture-specific startles syndromes such as Latah in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in div

  15. Genetics Home Reference: Barth syndrome

    Science.gov (United States)

    ... becomes increasingly weakened and is less able to pump blood. Individuals with Barth syndrome may have elastic fibers ... of the muscle and impairs its ability to pump blood. In people with Barth syndrome , the heart problems ...

  16. Aplastic Anemia and Myelodysplastic Syndromes

    Science.gov (United States)

    ... Organizations (PDF, 270 KB). Alternate Language URL Aplastic Anemia and Myelodysplastic Syndromes Page Content On this page: ... References For More Information Acknowledgments What are aplastic anemia and myelodysplastic syndromes (MDS)? Aplastic anemia and myelodysplastic ...

  17. Genetics Home Reference: Moebius syndrome

    Science.gov (United States)

    ... may also be risk factors for Moebius syndrome . Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII . These nerves, which emerge from ...

  18. Irregular sleep-wake syndrome

    Science.gov (United States)

    Sleep-wake syndrome - irregular ... routine during the day. The amount of total sleep time is normal, but the body clock loses ... have a different condition, such as shift work sleep disorder or jet lag syndrome.

  19. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael Hecht; Jeppesen, Jørgen; Larsen, Mogens Lytken

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...

  20. How Is Metabolic Syndrome Treated?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Metabolic Syndrome Treated? Heart-healthy lifestyle changes are the first line of treatment for metabolic syndrome. If heart-healthy lifestyle changes aren’t enough, ...

  1. Tics, Tourette Syndrome, and OCD

    Science.gov (United States)

    ... Size Email Print Share Tics, Tourette Syndrome, and OCD Page Content Article Body Tics are rapid, repetitive ... shown that chronic tic disorders, Tourette syndrome, and OCD may stem from some common factors, and a ...

  2. Fragile X Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Other FAQs Skip sharing on social media links ... Are there specific disorders or conditions associated with Fragile X syndrome? Among the other conditions associated with Fragile X ...

  3. Prognosis of Cyclic Vomiting Syndrome

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2016-03-01

    Full Text Available Investigators from Teikyo University School of Medicine, Tokyo, Japan, evaluated the clinical features, prognosis, and prophylaxis of cyclic vomiting syndrome and the relationship between the syndrome and levels of adrenocorticotropic/antidiuretic hormones (ACTH/ADH.

  4. Genetics Home Reference: Crouzonodermoskeletal syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome Enable ...

  5. Genetics Home Reference: Partington syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Partington syndrome Partington syndrome Enable ...

  6. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions MEGDEL syndrome MEGDEL syndrome Enable ...

  7. Genetics Home Reference: Leigh syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Leigh syndrome Leigh syndrome Enable ...

  8. Refeeding syndrome: a clinical review.

    Science.gov (United States)

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  9. 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.

  10. Genetics Home Reference: cardiofaciocutaneous syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Enable ...

  11. Chronic Fatigue Syndrome (CFS): Symptoms

    Science.gov (United States)

    ... please visit this page: About CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Symptoms On this Page ... Symptoms What's the Clinical Course of CFS? Chronic fatigue syndrome can be misdiagnosed or overlooked because its ...

  12. Epidermal nevus syndrome.

    Science.gov (United States)

    Laura, Flores-Sarnat

    2013-01-01

    Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in skeletal, ocular, cardiovascular, endocrine, and orodental tissues, as well as lipomas, are due to defective neural crest. The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs. They consist mainly of epilepsy and developmental delay or intellectual disability. The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term "Heide's syndrome" for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic. The mechanism is thought to be genetic mosaicism with a lethal autosomal dominant gene. Specific genetic mutations (PTEN, FGFR3, PIK3CA, and AKT1) have been documented in some patients. The large number of contributors for over more than a century and a half to the description of these disorders precludes the use of new author eponyms.

  13. Progestogens and Cushing's syndrome.

    LENUS (Irish Health Repository)

    Harte, C

    2012-02-03

    We report 3 patients where Medroxyprogesterone Acetate (MPA = Provera) and Megestrol Acetate (Megace) in doses used for therapy of breast cancer, caused clinical hypercortisolism and Cushing\\'s syndrome. Studies of the toxicity of Medroxyprogesterone Acetate list the commonest adverse events at 500 mg\\/day as weight gain, water retention, increased blood pressure, tremor, moon face, sweating, muscle cramps, vaginal bleeding and increased appetite. Glucocorticoid-like effects are seen in up to 30% of patients treated for longer than 6 weeks with mostly large doses of the order of 1500 mg\\/day but Cushing\\'s syndrome has been reported in patients taking 400 mg\\/day. Neither the glucocorticoid-like effects or Cushing\\'s syndrome have been previously observed with Megestrol Acetate. In the elderly female population receiving progestogens for neoplastic disease the progestogen itself could be an appreciable cause of morbidity both by causing glucocorticoid-like effects and Cushing\\'s syndrome but also by lack of awareness of the danger of sudden withdrawal of these compounds when the hypothalmic-pituitary-adrenal (HPA) axis is suppressed. The signs and symptoms could be easily overlooked unless appropriate testing for Cushing\\'s syndrome is carried out. While the progestogen may have to be continued indefinitely a dose decrease may be feasible with reduction of morbidity.

  14. Capsule contraction syndrome

    Directory of Open Access Journals (Sweden)

    Mesut COŞKUN

    2009-06-01

    Full Text Available Capsule contraction syndrome occurs after fibrous metaplasia of lens proteins that leads to capsular bag contraction. Excessive front capsular wrinkling is seen in capsule contraction syndrome and there is an imbalance between powers supplying capsular integrity. This situation leads to zonular weakness. Capsule contraction syndrome is associated with pseudoexfoliation, older age, uveitis, pars planitis and myotonic muscular dystrophy. In order to decrease the risk of capsule contraction syndrome, front capsulerhexis area should be open as 5.5-6 mm diameter and a curysoft intraocular lens should be used. In order to prevent lens epithelial proliferation and metaplasia, lens epithelial cells at inferior surface of front capsule should be aspirated carefully. If postoperative capsular contraction detected, front capsulotomy should be performed by Nd-YAG laser at postoperative 2 to 3 weeks. In patients that Nd-YAG laser is unsuccessful, capsular tension should be decreased by surgical microincisions. In present study, we evaluated etiology, prevention and management of capsule contraction syndrome in the light of actual literature knowledge.

  15. Posterior Fossa Syndrome

    Directory of Open Access Journals (Sweden)

    Serhan Kupeli

    2014-08-01

    Full Text Available Posterior fossa syndrome is defined as the temporary and complete loss of speech after posterior fossa surgery which is not related to cerebellar hemorrhage, infection of the cerebellum, degenerative or neoplastic diseases of the cerebellum. In this review, we aimed to outline the incidence of posterior fossa syndrome, to define the risk factors for posterior fossa syndrome, to describe accompanying neurobehavioural and psychologic problems and to speculate about the etiologic mechanisms. The diagnosis of medulloblastoma and midline location of the tumor are important risk factors for the development of posterior fossa syndrome. These findings support the hypothesis that temporary ischemia and edema due to retracted and largely manipulated dentate nuclei and superior cerebellar pedincles may be the cause of mutism. Informing the family and the patient about the posterior fossa syndromemust be a component of the preoperative interview and patients who developed posterior fossa syndrome should be followed for accompanying neurobehavioural and psychologic problems even after mutism improved. [Archives Medical Review Journal 2014; 23(4.000: 636-657

  16. Marfan Syndrome: A Case Report

    OpenAIRE

    Rajendran Ganesh; Rajendran Vijayakumar; Haridoss Selvakumar

    2012-01-01

    Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The ...

  17. Sleep problems in Rett syndrome

    OpenAIRE

    YOUNG, Deidra; Nagarajan, Lakshmi; de Klerk, Nick; Jacoby, Peter; Ellaway, Carolyn; Leonard, Helen

    2007-01-01

    Rett syndrome (RTT) is a severe neurological disorder, affecting mainly females. It is generally caused by mutations in the MECP2 gene. Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history. An Australian population-based registry of cases born since 1976 has been operating since 1993, with current ascertainment at 300. The Australian Rett Syndrome Database (ARSD) consists of information about Rett syndrome cases inc...

  18. Waardenburg Syndrome: A Case Report

    OpenAIRE

    Hayrullah Alp; Esma Alp

    2010-01-01

    Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in ea...

  19. Unusual presentation of Lynch Syndrome

    Directory of Open Access Journals (Sweden)

    Yu Veronica PCC

    2009-06-01

    Full Text Available Abstract Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR. The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges.

  20. Unusual presentation of Lynch Syndrome

    OpenAIRE

    Yu Veronica PCC; Novelli Marco; Payne Stewart J; Fisher Sam; Barnetson Rebecca A; Frayling Ian M; Barrett Ann; Goudie David; Ardern-Jones Audrey; Eeles Ros; Shanley Susan

    2009-01-01

    Abstract Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic an...

  1. Arteriovenous malformations in Cowden syndrome

    OpenAIRE

    Turnbull, M.; Humeniuk, V; Stein, B; SUTHERS, G.

    2005-01-01

    Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan–Riley–Ruvalcaba and Lhermitte–Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, intellectua...

  2. Down Syndrome: A Cardiovascular Perspective

    Science.gov (United States)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  3. Urinary Peptides in Rett Syndrome.

    Science.gov (United States)

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

    2002-01-01

    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  4. Klinefelter Syndrome With Leg Ulcers

    Directory of Open Access Journals (Sweden)

    Narendra G

    1999-01-01

    Full Text Available Leg ulcers are frequently caused by venous insufficiency, arterial insufficiency, neuropathy, or a combination of these factors. Klinefelter syndrome in association with chronic leg ulcers have been reported earlier. We report a case of Klinefelter syndrome with non- healing ulcer. The diagnosis of the Klinefelter syndrome was confirmed by karyotyping.

  5. Down syndrome: a cardiovascular perspective

    NARCIS (Netherlands)

    J.C. Vis; M.G.J. Duffels; M.M. Winter; M.E. Weijerman; J.M. Cobben; S.A. Huisman; B.J.M. Mulder

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart

  6. Genetic Syndromes Associated with Craniosynostosis.

    Science.gov (United States)

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  7. Intestinal haemorrhage in Turner's syndrome.

    OpenAIRE

    Burge, D M; A. W. Middleton; Kamath, R; Fasher, B J

    1981-01-01

    A 13-year-old girl with Turner's syndrome and bleeding from intestinal venous ectasia is reported. The various types of vascular anomaly of the bowel associated with Turner's syndrome are discussed. Awareness of these anomalies may help prevent unnecessary laparotomy in children with this syndrome.

  8. Hypoparathyroidism-retardation-dysmorphism syndrome

    Directory of Open Access Journals (Sweden)

    Kalenahalli Jagadish Kumar

    2013-01-01

    Full Text Available Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD. We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome.

  9. Genetic Syndromes Associated with Craniosynostosis.

    Science.gov (United States)

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

  10. Joint hypermobility syndrome pain.

    Science.gov (United States)

    Grahame, Rodney

    2009-12-01

    Joint hypermobility syndrome (JHS) was initially defined as the occurrence of musculoskeletal symptoms in the presence of joint laxity and hypermobility in otherwise healthy individuals. It is now perceived as a commonly overlooked, underdiagnosed, multifaceted, and multisystemic heritable disorder of connective tissue (HDCT), which shares many of the phenotypic features of other HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome. Whereas the additional flexibility can confer benefits in terms of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences that resonate far beyond the confines of the musculoskeletal system. There is hardly a clinical specialty to be found that is not touched in one way or another by JHS. Over the past decade, it has become evident that of all the complications that may arise in JHS, chronic pain is arguably the most menacing and difficult to treat. PMID:19889283

  11. Femoroacetabular impingement syndrome

    Directory of Open Access Journals (Sweden)

    Tolga Ege

    2016-03-01

    Full Text Available Femoroacetabular impingement (FAI syndrome is a recently understood hip condition that describes the pathologic contact between the femoral neck and the acetabular rim. Previously, it was also called and ldquo;acetabular rim syndrome and rdquo; or and ldquo;cervicoacetabular impingement syndrome and rdquo;. It is characterized by a developmental disorder affecting the femoral neck, acetabular rim and labrum. The chronic irritation on the hip joint causes chondral damage and mechanical changes, and these degenerative changes eventually lead to osteoarthritis. Two types of FAI have been described: Cam type and pincer type. Treatment options for FAI are conservative, open, mini open and arthroscopic surgery. [Arch Clin Exp Surg 2016; 5(1.000: 42-47

  12. Brachman de lange syndrome

    Directory of Open Access Journals (Sweden)

    Leena Verma

    2010-01-01

    Full Text Available Brachman de Lange syndrome or Cornelia de Lange syndrome (CdLS is a genetic disorder which can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. It is characterized by skeletal, craniofacial deformities, gastrointestinal and cardiac malformations. This syndrome is of rare occurrence and affects between 1/10,000 and 1/60,000 neonates. Diagnosis is based on the characteristic phenotype, in particular, a striking facial appearance, prenatal and postnatal growth retardation, various skeletal abnormalities, hypertrichosis, and developmental delay. Here, we present the case of a 13-year-old patient, with micrognathia, delayed eruption, multiple carious teeth, missing teeth and periodontal problems together, which had never been reported before. The father was also found to have the same missing teeth as the girl child.

  13. Ankle impingement syndromes

    International Nuclear Information System (INIS)

    Soft-tissue and osseous impingement syndromes can be an important cause of chronic ankle pain, particularly in the professional athlete. The classification of ankle impingement syndromes is based to their anatomical location around the tibiotalar joint. The most important impingement syndromes are anterolateral, anterior and posterior impingement with more recent studies describing posteromedial and anteromedial impingement. Usually conventional radiography is the first imaging technique to be performed as it allows assessment of potential bone abnormalities, particularly in anterior and posterior joint compartments. Computed tomography (CT) only plays a role in the assessment of the posterior impingement. Magnetic resonance (MR) imaging is regarded as the modality of choice as it is able to demonstrate both osseous and soft tissue changes, such as bone marrow edema, capsular and ligametous thickening, and localized synovitis. (orig.)

  14. Marfan syndrome: current perspectives

    Science.gov (United States)

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

    2016-01-01

    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  15. [DRESS syndrome to sulfasalzine].

    Science.gov (United States)

    Bourguignon, R; Piérrard-Franchimont, C; Paquet, P; Piérard, G E

    2006-09-01

    We report a case of drug hypersensibility syndrome (DRESS syndrome) developed one month after initiation of a treatment by sulfasalazine. Due to the severity of the cytolytic hepatic damages as observed in this case, we emphasize the importance of suggesting this diagnosis in any patient developing a cutaneous rash and an alteration of the general health status after initiation of a new treatment. The hematologic alterations which represent a key feature for the diagnosis may rash. develop only a few days after the cutaneous rash. PMID:17112165

  16. 46,XX Male Syndrome

    Directory of Open Access Journals (Sweden)

    Bekir Uçan

    2013-06-01

    Full Text Available 46, XX male syndrome – testicular disorder of sexual differentiation (DSD is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. These cases are diagnosed more easily in childhood. In adults, the diagnosis can be difficult due to the current normal gender development. Here, we report hormonal, molecular and cytogenetic results in an adult male patient with primary hypogonadism who was diagnosed with 46, XX male syndrome in our clinic. Turk Jem 2013; 17: 46-8

  17. The alcohol withdrawal syndrome.

    LENUS (Irish Health Repository)

    McKeon, A

    2008-08-01

    The alcohol withdrawal syndrome (AWS) is a common management problem in hospital practice for neurologists, psychiatrists and general physicians alike. Although some patients have mild symptoms and may even be managed in the outpatient setting, others have more severe symptoms or a history of adverse outcomes that requires close inpatient supervision and benzodiazepine therapy. Many patients with AWS have multiple management issues (withdrawal symptoms, delirium tremens, the Wernicke-Korsakoff syndrome, seizures, depression, polysubstance abuse, electrolyte disturbances and liver disease), which requires a coordinated, multidisciplinary approach. Although AWS may be complex, careful evaluation and available treatments should ensure safe detoxification for most patients.

  18. [Neuroleptic induced deficit syndrome].

    Science.gov (United States)

    Szafrański, T

    1995-01-01

    Increasing interest in subjective aspects of therapy and rehabilitation focused the attention of psychiatrists, psychologists and psychopharmacologists on the mental side effects of neuroleptics. For the drug-related impairment of affective, cognitive and social function the name of neuroleptic-induced deficit syndrome (NIDS) is proposed. Patients with NIDS appear to be indifferent to the environmental stimuli, retarded and apathetic. They complain of feeling drugged and drowsy, weird, they suffer from lack of motivation, feel like "zombies". The paper presents description of NIDS and its differentiation from negative and depressive symptoms in schizophrenia and subjective perceiving of extrapyramidal syndromes. PMID:7652089

  19. Sturge-Weber syndrome

    International Nuclear Information System (INIS)

    Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by intracranial leptomeningeal angioma, facial port-wine nevi, and glaucoma. Diagnosis is relatively easy because of the facial angioma and MRI findings, but evaluating severity is difficult. Predictors of SWS's prognosis are epilepsy and brain dysfunction under the leptomeningeal angioma. Therefore, active research has been intensely conducted with electrophysiological, neuroimaging, and neuropsychological methods. Final goals of this research are to define the therapeutic strategy. In this review, we focus on recent advances in neuroimaging and electroencephalogram (EEG) analysis to discover the epileptogenesis, the most adequate therapy, and prospective topics of investigation in SWS. (author)

  20. Marfan syndrome: current perspectives

    Directory of Open Access Journals (Sweden)

    Pepe G

    2016-05-01

    Full Text Available Guglielmina Pepe,1,2 Betti Giusti,1,2 Elena Sticchi,1,2 Rosanna Abbate,1,2 Gian Franco Gensini,1–3 Stefano Nistri2,4 1Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, 2Cardiothoracovascular Department, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, 3Santa Maria agli Ulivi, Fondazione Don Carlo Gnocchi, Onlus, Institute for Cancer Research and Treatment, Florence, 4Cardiology Service, CMSR Veneto Medica, Altavilla Vicentina, Italy Abstract: Marfan syndrome (MFS is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD, mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial. They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation, while it has no significant effect on patients displaying dominant negative (qualitative mutations. Moreover, a French group in a 3-year trial compared the administration of