Sample records for cauda equina syndrome

  1. [The time factor in cauda equina syndrome]. (United States)

    Sulla, I


    Cauda equina syndrome is a rare but potentially catastrophic complication of lumbar disc disease. In spite of properly performed surgical decompression, the outcome is mostly unsatisfactory. One of the important factors influencing the recovery of motor function of the lower extremities, sensation, bladder and rectum control, sexual function, as well as working ability is thought to be the duration of cauda equina compression. The evaluation of data obtained in a group of 58 persons (21 women and 37 men) operated upon for discogenic cauda equina syndrome in the period of time from January 1, 1982 to December 31, 1991 did not confirm this opinion. (Tab. 7, Ref. 23.).

  2. Cauda Equina Syndrome Secondary to Complicated Diverticulitis

    Directory of Open Access Journals (Sweden)

    M. ter Horst


    Full Text Available A 58-year-old woman presented to the emergency department with cauda equina syndrome and sepsis. The symptoms were attributed to a complicated episode of sigmoid diverticulitis. MRI showed that the diverticulitis had caused an intra-abdominal fistula to a presacrally localized abscess expanding into the spinal canal, compressing the cauda equina nerves. Although Hartmann's procedure was performed, the neurological symptoms persisted, causing the patient to remain partially paraplegic. This case report illustrates that cauda equina syndrome is a condition that can also be caused by intra-abdominal pathology such as diverticulitis.

  3. Cauda equina syndrome: the importance of complete multidisciplinary team management. (United States)

    Shivji, Faiz; Tsegaye, Magnum


    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.

  4. Cauda equina syndrome: a review of clinical progress

    Institute of Scientific and Technical Information of China (English)

    MA Bin; WU Hong; JIA Lian-shun; YUAN Wen; SHI Guo-dong; SHI Jian-gang


    Objective To review the literature on the clinical progress in cauda equina syndrome (CES), including the epidemic history, pathogenesis, diagnosis, treatment policy and prognosis.Data sources All reports on CES in the literature were searched in PubMed, Ovid, Springer, Elsevier, and the Chinese Biomedical Literature Disk using the key terms "cauda equina syndrome", "diagnosis", "treatment', "prognosis" and "evidence-based medicine".Study selection Original milestone articles and critical reviews wdtten by major pioneer investigators about the cauda equina syndrome were selected.Results CES is rare, both atraumatically and traumatically. Males and females are equally affected. The incidence of CES is variable, depending on the etiology of the syndrome. The most common cause of CES is herniation of a lumbar intervertebral disc. CES symptoms may have sudden onset and evolve rapidly or sometimes chronic ally. Each type of CES has different typical signs and symptoms. Low back pain may be the most significant symptoms, accompanied by sciatica, lower extremities weakness, saddle or perianal hypoesthesia, sexual impotence, and sphincter dysfunction. MRI is usually the preferred investigation approach. Patients who have had CES are difficult to return to a normal status.Conclusions The diagnosis of CES is primarily based on a careful history inquiry and clinical examination, assisted by elective radiologic investigations. Early diagnosis and early surgical decompression are crucial for a favorable outcome in most CES cases.

  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)


    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


    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


    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. Spontaneous Perirenal Hemorrhage in Cauda Equina Syndrome: A Case Report


    Seok, Hyun; Kim, Sang-hyun; Choi, Won Hyuck; Ko, Yong Jae


    Neurogenic bladder is a common cause of acute pyelonephritis (APN) in cauda equina syndrome (CES). Perirenal hemorrhage, a rare complication of APN, can be a life-threatening condition. To our knowledge, there is no previous report of perirenal hemorrhage as a complication of APN in CES. A 57-year-old male, diagnosed with CES, due to a L3 burst fracture 3 months earlier, was presented with fever and chills. His diagnosis was APN due to neurogenic bladder. After treatment for APN, he was trans...

  9. 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)


    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.

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

    Directory of Open Access Journals (Sweden)

    Tayfun Hakan


    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.

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

    Institute of Scientific and Technical Information of China (English)


    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 Secondary to Leptomeningeal Carcinomatosis of Gastroesophageal Junction Cancer

    Directory of Open Access Journals (Sweden)

    Amal Alkhotani


    Full Text Available Leptomeningeal carcinomatosis (LMC is a diffuse or multifocal malignant infiltration of the pia matter and arachnoid membrane. The most commonly reported cancers associated with LMC are breast, lung, and hematological malignancies. Patients with LMC commonly present with multifocal neurological symptoms. We report a case of LMC secondary to gastroesophageal junction cancer present initially with cauda equina syndrome. A 51-year-old male patient with treated adenocarcinoma of the gastroesophageal junction presented with left leg pain, mild weakness, and saddle area numbness. Initial radiological examinations were unremarkable. Subsequently, he had worsening of his leg weakness, fecal incontinence, and urine retention. Two days later, he developed rapidly progressive cranial neuropathies including facial diplegia, sensorineural hearing loss, dysarthria, and dysphagia. MRI with and without contrast showed diffuse enhancement of leptomeninges surrounding the brain, spinal cord, and cauda equina extending to the nerve roots. Cerebrospinal fluid cytology was positive for malignant cells. The patient died within 10 days from the second presentation. In cancer patients with cauda equina syndrome and absence of structural lesion on imaging, LMC should be considered. To our knowledge, this is the first case of LMC secondary to gastroesophageal cancer presenting with cauda equina syndrome.

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

    Directory of Open Access Journals (Sweden)

    Divya Sethi


    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.

  14. [Does the site of compression of spinal roots affect the therapeutic results in discogenic cauda equina syndrome?]. (United States)

    Sulla, I


    Experimental investigations and differences in the anatomical structure of roots of the cauda equina indicate that the most serious sequelae should be produced in the short portion beyond the spine. The objective of the present work was to verify this assumption. The authors examined 70 subjects (24 women and 46 men) operated on account of discogenic syndrome of the cauda equina in 1982 -1992; statistical analysis of the results by means of the X2-test revealed that the condition had in the majority of patients permanent sequelae. Except for restored sensitivity it was not possible to prove a relationship between the site of the compression and the therapeutic results. Key words: cauda equina syndrome, site of compression.

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

    Directory of Open Access Journals (Sweden)

    Lee Hwi-yong


    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.

  16. [Spinal root compression and results of treatment of discogenic cauda equina syndrome]. (United States)

    Sulla, I


    Several experimental and clinical studies suggest an important role of the quality and quantity of the material compressing the lumbosacral spinal cord radices in the development of cauda equina syndrome. These facts inspired the author to find out if the repair of neurological functions depends also on these factors. Clinical investigations of 81 persons (30 women and 51 men) were performed at minimum time of two years after the operation of the cauda equina discogenic syndrome. Mathematical analysis of the acquired data (chi-quadrate) revealed that so-called soft compression of neural structures (intervertebral disc hernia, sequester liber) negatively influenced the restoration of lower extremities motor functions (p = 0.01), sexual functions in men (p = 0.05) and radicular pain persistence (p = 0.01). On the other hand, the so-called hard compression (spondylosis deformans and protrusion of intervertebral disc) negatively influenced the restoration of sensitive innervation (p = 0.01) and voluntary control of urinary bladder emptying (p = 0.01). (Tab. 7, Ref. 24.)

  17. Examination of The Predictive Power of Electromyography and Urodynamic Study in Patients with Cauda Equina Syndrome (Horse Tail Syndrome) (United States)

    Shahmohammadi, Mohammadreza; Khoshuod, Reza Jalil; Zali, Alireza; Seddeghi, Amir Saied; Kabir, Nima Mohseni


    Background: Cauda equina syndrome is a rare disorder that causes loss of Lumbar plexus function (nerve roots) lower than conus medullaris. No risk factor has been defined for this disease yet. Due to the high morbidity of Cauda equina syndrome and lack of sufficient information about the connection between the disease and urodynamic findings and EMG (Electromyography) findings, the need for this comprehensive study is felt. Objective: The aim is to determine the predictive power of findings resulted from urodynamics and electromyography of perineal region and around sphincter in the clinical cure rate of urination in patients with urinary retention followed by Cauda equina syndrome. Method: Patients referred to Shohadaye Tajrish Hospital during the years 2009 to 2013, in case of having Cauda equina syndrome symptoms (confirmed with Lumbar MRI), were undergone urodynamic examination and perineal electromyography after surgical decompression action. These both assessments (urodynamic study and electromyography) were repeated during the follow-up of 15 patients in the first and sixth months after surgery and findings were compared with each other. Results: Among the Urodynamic findings, Qmax (maximum urine flow) during three studies had a significant relationship with long-term recovery rate of patients (P <0.05). The relationship had been more valuable in follow-ups after one month (P = 0.0001). Also, BCI (Bladder Contractility Index) in all three studies had a significant relationship with clinical improvement in the ability to urinate (P <0.001). The residual urine (PVR) compared to two previous urodynamic findings showed a less significant relationship with clinical cure rate (P = 0.04). Among the findings of muscle-nerve (MUAP Fibrillation, Positive sharp way) none of them had a significant relationship with cure rate. Conclusion: Urodynamic finding, especially Qmax and bladder contractility index, can be considered as predictive indicators for patients

  18. Patients age and results of treatment in discogenic cauda equina syndrome. (United States)

    Sulla, I


    Cauda equina syndrome is a feared complication of lumbar disc disease. Despite of early surgery it frequently leaves persistent effects. Localisation, type, and duration of spinal nerve roots compression are quoted as the most important factors influencing the results of treatment. Statistical evaluation of data acquired by examinations of 58 persons operated on for this disease et the Department of Neurosurgery in Kosice within the period from January 1st, 1982 to December 31st, 1991 has shown that the further important facts are ageing of tissues and impairment of microcirculation. In patients over the age of 45 the recovery of motor and sexual functions, as well as the voluntary control of rectal sphincters, and the working ability were significantly worse. It is suggested thereby that in elderly persons with a proven intervertebral disc disease an early surgical intervention is indicated. (Tab. 7, Ref. 23.)

  19. Cauda equina hemangioblastoma: case report Hemangioblastoma da cauda equina: relato de caso

    Directory of Open Access Journals (Sweden)

    Leodante Batista da Costa Jr


    Full Text Available Hemangioblastomas of the spinal cord are rare lesions, and those located at the cauda equina are even rarer. Most commonly these tumors are present in patients with von Hippel-Lindau (VHL syndrome. We describe here the case of a 48 years old woman with a pure radicular hemangioblastoma, not associated with VHL, presenting with radicular pain, diagnosed with magnetic ressonance imaging (MRI and submitted to total resection with a very good outcome. To our knownledge, this is the second report to describe the MRI aspect of histologically proved hemangioblastoma of the cauda equina in a patient without clinical criteria for VHL.Hemangioblastomas da medula espinhal são lesões raras, sendo sua localização na cauda equina ainda mais incomum. Estes tumores são diagnosticados com mais frequência em pacientes portadores da síndrome de Von Hippel-Lindau. Descrevemos o caso mulher de 48 anos hemangioblastoma radicular na cauda equina, diagnosticado com ressonância nuclear magnética, não associado à síndrome de Von Hippel-Lindau, tratado cirurgicamente com ótimo resultado. Em nossa revisão, este é o segundo relato de diagnóstico com ressonância nuclear magnética de hemangioblastoma da cauda equina em paciente sem critérios clínicos da síndrome de Von Hipppel-Lindau.

  20. Pacinioma of the cauda equina. (United States)

    Kojc, Nika; Korsic, Marjan; Popovic, Mara


    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.

  1. Intraneural capillary hemangioma of the cauda equina. (United States)

    Mastronardi, L; Guiducci, A; Frondizi, D; Carletti, S; Spera, C; Maira, G


    A case of intraneural capillary hemangioma involving the dorsal root of a spinal nerve of the cauda equina is reported. The patient was a 41-year-old man with a 3-month history of intermittent left lumbosciatalgia. MRI and CT myelography showed a space-occupying mass at the level of the cauda equina. Laminectomy of L5 and complete removal of the lesion were performed without neurological problems. The clinical, diagnostic, and therapeutic aspects of hemangiomas of the cauda equina are analyzed.

  2. Peripheral primitive neuroectodermal tumor causing cauda equina syndrome with destruction of L5 vertebra

    Directory of Open Access Journals (Sweden)

    Dhatt Sarvdeep


    Full Text Available A 24-year-old male patient presented with cauda equina lesion symptoms. His clinicoradiological examination including X-rays, CT scan and MRI revealed destruction of L 5 vertebral body, pedicle and a mass extending to lateral recess and left intervertebral foramina causing pressure over the thecal sac. A CT guided FNAC was inconclusive. Open biopsy and hemilaminectomy of L 5 vertebra was performed. Histopathology and immunocytochemical analysis revealed it to be primitive neuroectodermal tumor. Patient was given chemotherapy and radiation therapy. His lower limb power improved by grade I post operatively and at 2 years follow-up bowel/bladder recovery was noticed. Patient died after 2.5 years of surgery because of pulmonary metastasis.

  3. 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)


    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.)

  4. Cauda equina syndrome. An emergency, some unexpected severe symptoms and conservative treatment. (United States)

    Grammaticos, Philip; Papadopoulos, Nikitas; Tarazi, Labib; Katsarkas, Dimosthenis


    An 83 years old physician, doing only office work and no exercise, presented with cauda equine, due to a large intervertebral disk hernia between L1-L2 vertebrae, after an unorthodox movement. He also had a facet syndrome, a muscular spasm in the gluteus, a small fracture in the periphery of the body of the L2 vertebra and pain in the L4-L5, due to a previous vertebral hernia five years ago. All L1-L5 left lateral area was painful. He felt an unbearable pain. He also had a degree of paralysis of the gastrointestinal (GI) and the genitourinary system. He could not take analgesics or anti-inflammatory drugs per os because of the paralysis of the GI system. His pain was relieved only by intramuscular injections of parecoximbe (a cyclooxigenase-2 inhibitor, COX-2). The disc hernia was treated without surgery. After 43 days in bed, he was able to start exercising in order to treat muscles' atrophy.

  5. Cavernous angioma of the cauda equina: case report Angioma cavernoso de cauda equina: relato de caso

    Directory of Open Access Journals (Sweden)

    Asdrubal Falavigna


    Full Text Available We present a rare case of cavernous angioma of the cauda equina and review the eleven cases available in the literature. A 44-year-old woman presented with low back pain and sciatica associated with bowel and bladder dysfunction and motor weakness of the lower extremity. The MRI revealed an enhancing, heterogeneous and hyperintense intradural lesion compressing the cauda equina roots at the L4 level. Laminectomy at L3-L4 and total removal of the tumor were performed without additional neurological deficit. Pathology revealed a cavernous angioma. The literature, clinical presentation, technical examinations, and treatment are reviewed.Relatamos um caso de angioma cavernoso de cauda equina em mulher de 44 anos de idade com sintomas de lombociatalgia associada a fraqueza de membros inferiores e disfunção esfincteriana vesical e anal. Exame de ressonância magnética evidenciou lesão expansiva intradural heterogênea e hiperintensa na cauda eqüina. Indicado tratamento cirúrgico com remoção completa através de laminectomia L3 e L4. O exame anatomopatológico foi compatível com angioma cavernoso. Os onze casos encontrados na literatura são revisados correlacionando a apresentação clínica, tratamento proposto e prognóstico.

  6. Spinal Cauda Equina Stimulation for Alternative Location of Spinal Cord Stimulation in Intractable Phantom Limb Pain Syndrome: A Case Report. (United States)

    Lee, Pil Moo; So, Yun; Park, Jung Min; Park, Chul Min; Kim, Hae Kyoung; Kim, Jae Hun


    Phantom limb pain is a phenomenon in which patients experience pain in a part of the body that no longer exists. In several treatment modalities, spinal cord stimulation (SCS) has been introduced for the management of intractable post-amputation pain. A 46-year-old male patient complained of severe ankle and foot pain, following above-the-knee amputation surgery on the right side amputation surgery three years earlier. Despite undergoing treatment with multiple modalities for pain management involving numerous oral and intravenous medications, nerve blocks, and pulsed radiofrequency (RF) treatment, the effect duration was temporary and the decreases in the patient's pain score were not acceptable. Even the use of SCS did not provide completely satisfactory pain management. However, the trial lead positioning in the cauda equina was able to stimulate the site of the severe pain, and the patient's pain score was dramatically decreased. We report a case of successful pain management with spinal cauda equina stimulation following the failure of SCS in the treatment of intractable phantom limb pain.

  7. 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)


    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.


    Directory of Open Access Journals (Sweden)

    DOGARU Gabriela


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

  9. [Syndroma caudae equinae of rare etiology]. (United States)

    Lukác, I; Sulla, I J


    The results of treatment patients suffering from syndroma caudae equinae (SCE) are not generally satisfactory. The authors decided to evaluate occurrence according to etiology and permanent consequences after treatment in patients that were treated at the Department of Neurosurgery P. J. Safarik University Hospital in Kosice during 12 years (1996-2007). 95 patients from the 101 members file had SCE caused by disc herniation or spinal stenosis. Rare etiology of SCE was found in the six cases: three had traumatic origin, one spinal epidural abscess, one tumor. SCE developed after surgery of intervetebral disc herniation in one patient. Patients underwent control examination or answered by a questionnaire one year from the beginning of SCE or later. Three patients with traumatic SCE had the moderate residual problems. One patient suffered from intermittent pain, perianogenital hypesthesia had two patients, light motor deficit another one. One patient needs to use increased abdominal pressure for urination. Nobody from this subgroup had sexual difficulties or problems with anal spincters' control. The result of treatment patient with SCE caused by spinal epidural abscess was unfavourable. Permanent pain, perianogenital hypesthesia, hard motor deficit and loss of sexual functions persisted. Patient with oncological SCE had deficit in every traced signs. Similar clinical picture was in a patient with postoperative SCE, but residual deficit was moderate.

  10. Hydraulic spinal cord and cauda equina nerve injuries

    Institute of Scientific and Technical Information of China (English)


    @@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.

  11. [Neurological disorders caused by equine herpesvirus type 1 and cauda equina neuritis in horses]. (United States)

    Sloet van Oldruitenborgh-Oosterbaan, M M; Binkhorst, G J


    The differences in aetiology, symptomatology, pathomorphology, diagnosis and therapy between the nervous form (paralytic form) of Equine Herpes Virus, type 1, and Neuritis Caudae Equinae are reviewed. The conclusion is that in most cases it is possible to differentiate between these two clinical syndromes.

  12. Metastase de carcinoma comprometendo a cauda equina Metastatic carcinoma of the cauda equina: a case report

    Directory of Open Access Journals (Sweden)

    Lígia M. B. Coutinho


    Full Text Available É relatado um caso de paciente, de 60 anos, que apresentou tumor nos segmentos apical e posterior direitos, cujo diagnóstico histopatológico foi de carcinoma indiferenciado. O paciente foi submetido à cobaltoterapia, tendo melhorado por três meses, quando foi novamente hospitalizado por dor lombar. A mielografia com lipiodol mostrou processo expansivo intrarraqueano. Mediante cirurgia foi encontrado tumor intra-dural, englobando raízes nervosas. O diagnóstico microscópico foi de carcinoma indiferenciado infiltrando os espaços epi e peri-neurais.The case of a 60 year-old man who had an indifferenciated carcinoma in the lung is reported. He had recieved cobaltotherapy and had improved. After 3 months a lumbar pain had begun and the patient was hospitalized. A myelography with lipiodol demonstrated an intra-dural mass. At operation a big intra-dural tumor including the cauda equina was found. The microscopic examination revealed an undifferenciated carcinoma, that infiltrated the epi and peri-neural space.

  13. Redundant nerve roots of the cauda equina : MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Kyu Hyen; Lee, Jung Man; Jung, Hak Young; Lee, Young Hwan; Sung, Nak Kwan; Chung, Duck Soo; Kim, Ok Dong [Catholic University of Taegu-Hyosung, College of Medicine, Taegu (Korea, Republic of); Lee, Sang Kwon; Suh, Kyung Jin [Kyungbuk National Univ. College of Medicine, Taegu (Korea, Republic of)


    To evaluate MR findings of redundant nerve roots (RNR) of the cauda equina. 17 patients with RNR were studied; eight were men and nine were women, and their ages ranged from 46 to 82 (mean 63) years. Diagroses were established on the basis of T2-weighted sagittal and coronal MRI, which showed a tortuous or coiled configuration of the nerve roots of the cauda equina. MR findings were reviewed for location, magnitude, and signal intensity of redundant nerve roots, and the relationship between magnitude of redundancy and severity of lumbar spinal canal stenosis (LSCS) was evaluated. In all 17 patients, MR showed moderate or severe LSCS caused by herniation or bulging of an intervertebral disc, osteophyte from the vertebral body or facet joint, thickening of the ligamentum flavum, degenerative spondylolisthesis, or a combination of these. T2-weighted sagittal and coronal MR images well clearly showed the location of RNR of the cauda equina;in 16 patients(94%), these were seen above the level of constriction of the spinal canal, and in one case, they were observed below the level of constriction. T2-weighted axial images showed the thecal sac filled with numerous nerve roots. The magnitude of RNR was mild in six cases (35%), moderate in five cases (30%), and severe in six cases (35%). Compared with normal nerve roots, the RNR signal on T2-weighted images was iso-intense. All patients with severe redundancy showed severe LSCS, but not all cases with severe LSCS showed severe redundancy. Redundant nerve roots of cauda equina were seen in relatively older patients with moderate or severe LSCS and T2-weighted MR images were accurate in identifying redundancy of nerve roots and evaluating their magnitude and location.

  14. 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


    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.

  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


    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)


    Institute of Scientific and Technical Information of China (English)

    王栋; 王展; 李浩鹏; 贺西京


    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. Malignant primary nerve sheath tumor of the cauda equina in a patient without Von Recklinghausen disease

    Directory of Open Access Journals (Sweden)

    Amit Shankar Singh


    Full Text Available Malignant peripheral nerve sheath tumor (MPNST is a rare variety of soft-tissue sarcoma of ecto-mesenchymal origin. Various sites have been mentioned, but it is rare in cauda equina. Only five cases of MPNST of cauda equina are reported till date. A 42-year-old male presented with complaints of weakness in lower limbs for last 5 months with bladder and bowel dysfunction. On magnetic resonance imaging, an isointense lesion on T1 and a hyperintense on T2 imaging was found at terminal spinal cord level. The lesion was excised following laminectomy and showed varied cellularity with thin oval, polyhedral and spindle-shaped cells arranged in bundles on microscopic examination suggesting MPNST. MPNST of cauda equina is rare and is associated with Neurofibromatosis Type-1 or radiation exposure, but is rarer without these risk factors. Prognosis is favorable in these cases.

  18. Ganglioneuromatous paraganglioma of the cauda equina--a pathological case study. (United States)

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


    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.

  19. Abscesso subdural ao nível da cauda equina: relato de um caso

    Directory of Open Access Journals (Sweden)

    Antonio Cesar G. Borges


    Full Text Available É relatada a observação de um paciente de 42 anos, com paraplegia flácida devida a abscesso subdural ao nível da cauda equina. É realçada a pobreza de alterações sensitivas e esfincterianas neste caso e enfatizada a importância da cirurgia para obtenção de bons resultados.

  20. Incidence of Primary Spinal Cord, Spinal Meninges, and Cauda Equina Tumors in Korea, 2006-2010



    Purpose Primary spinal cord and appendage tumors (PSCAT) originating from the spinal cord, spinal meninges, and cauda equina are uncommon. Worldwide, population-based cancer registry data are mostly based on malignant tumors only, which means few data are available on PSCATs, including non-malignant tumors. Therefore, the objective of this study was to provide information regarding the incidence of both non-malignant and malignant PSCATs in Korea on a national level. Materials and Methods Inc...

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

    Energy Technology Data Exchange (ETDEWEB)

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


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

  2. Paraganglioma del filum terminal como causa de síndrome de cauda equina

    Directory of Open Access Journals (Sweden)

    J. Undabeitia-Huertas


    Full Text Available Los paragangliomas son tumores neuroendocrinos originados a partir de células que migran de la cresta neural. Su localización es diversa, siendo frecuentes en cabeza, cuello, mediastino o retroperitoneo. Su crecimiento en la región del filum terminal es muy poco frecuente. Presentamos el caso de una paciente que debuta con un cuadro agudo de cauda equina. Describimos en detalle el proceso diagnóstico, las características radiológicas, el tratamiento y las propiedades macro y microscópicas de este tumor.

  3. Cauda equina compression in an achondroplastic dwarf. Is complex anterior and posterior surgical intervention necessary?

    Directory of Open Access Journals (Sweden)

    Papadakis Michael


    Full Text Available Abstract We report the case of an achondroplastic dwarf who presented with partial paraplegia due to cauda equina compression. The patient had marked thoracolumbar kyphosis and spinal stenosis at L2–L3. Although only posterior decompression is recommended in the literature for the treatment of achondroplastic patients presenting with neurological problems, a staged anterior and posterior decompression and stabilization was considered necessary for the treatment of this particular patient due to the presence of kyphosis. Satisfactory clinical results were achieved and sustained for six years following this complex operation.

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

    Directory of Open Access Journals (Sweden)

    Singh H


    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.

  5. Increases in COX II mRNA in the rat spinal cord induced by cauda equina traction. (United States)

    Hirabayashi, Kiyoko; Komagata, Masashi; Yamada, Jinzo; Isshiki, Atsushi; Watanabe, Yasuo


    This article investigated the time response of COX II induction by traction of the cauda equina assessed by a quantified RT-PCR method. Under deep GOI anesthesia, male Wistar rats were fixed in the prone position and a laminectomy of the dorsal part of the first and second sacral vertebrae was performed. Following, COX II-mRNA levels in the cervical, thoracic, lumbar, sacral, and caudal segments were measured at 2, 4, 6, and 24 h after traction by a quantified RT-PCR method. After cauda equina traction, significant levels of COX II mRNA were detected in all segments of the spinal cord examined. Maximum levels in each segment were determined 4 h after traction of the cauda equina. Particularly in the sacrocaudal segments significantly higher levels of COX II mRNA were measured 24 h after traction. These results indicate that significant induction of spinal COX II mRNA was caused by cauda equina traction and that such induction plays a regulatory role in the nociceptive pain pathway.

  6. Tumor Occupation in the Spinal Canal and Clinical Symptoms of Cauda Equina Schwannoma: An Analysis of 22 Cases (United States)

    Sakane, Masataka; Abe, Tetsuya; Nakagawa, Tsukasa; Sakai, Shinsuke; Tatsumura, Masaki; Funayama, Toru; Yamazaki, Masashi


    Study Design Retrospective, radiological study. Purpose To determine the relationship between clinical symptoms and the extent of tumor occupation of the spinal canal by cauda equina schwannoma. Overview of Literature Little is known about the relationship between the size of tumors of the cauda equina and the manifestation of clinical symptoms. We analyzed this relationship by estimating the percentage of tumor occupation (PTO) in the spinal canal in cauda equina schwannomas and by correlating this parameter with the presence and severity of clinical symptoms. Methods Twenty-two patients (9 men and 13 women; age, 19–79 years; mean age, 55.3 years) who were radiologically diagnosed with schwannomas of the cauda equina between April 2004 and July 2014 were retrospectively analyzed. PTO was measured in axial and sagittal magnetic resonance imaging slices in which the cross-sectional area of the tumor was the largest. Data regarding clinical symptoms and results of physical examinations were collected from patient medical records. PTO differences between symptom-positive and -negative groups were analyzed for each variable. Results In the 4 cases in which tumor presence was not related to clinical symptoms, PTO was 5%–10% (mean, 9%) in axial slices and 23%–31% (mean, 30%) in sagittal slices. In the 18 cases in which symptoms were associated with the tumor, PTO was 11%–86% (mean, 50%) in axial slices and 43%–88% (mean, 71%) in sagittal slices. PTO in axial slices was significantly higher in the presence of Déjèrine symptoms and/or muscle weakness, a positive straight leg raise test, and a positive Kemp sign. Conclusions PTO >20% in axial slices and >40% in sagittal slices can be an indication of symptomatic cauda equina schwannoma. PMID:27994784

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

    Directory of Open Access Journals (Sweden)

    Xiao Li


    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.

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

    NARCIS (Netherlands)

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


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

  9. Cauda equina redundant nerve roots are associated to the degree of spinal stenosis and to spondylolisthesis

    Directory of Open Access Journals (Sweden)

    Leonor Garbin Savarese


    Full Text Available To evaluate the association of redundant nerve roots of cauda equina (RNRCE with the degree of lumbar spinal stenosis (LSS and with spondylolisthesis. Method After Institutional Board approval, 171 consecutive patients were retrospectively enrolled, 105 LSS patients and 66 patients without stenosis. The dural sac cross-sectional area (CSA was measured on T2w axial MRI at the level of L2-3, L3-4 and L4-5 intervertebral discs. Two blinded radiologists classified cases as exhibiting or not RNRCE in MRI. Intra- and inter-observer reproducibility was assessed. Results RNRCE were associated with LSS. RRNCE was more frequent when maximum stenosis<55 mm2. Substantial intra- observer agreement and moderate inter-observer agreement were obtained in the classification of RNRCE. Spondylolisthesis was identified in 27 patients and represented increased risk for RRNCE. Conclusion LSS is a risk factor for RNRCE, especially for dural sac CSA<55 mm2. LSS and spondylolisthesis are independent risk factors for RNRCE.

  10. Delayed Diagnosis of Cauda Eqina Syndrome with Perineural Cyst after Combined Spinal-Epidural Anesthesia in Hemodialysis Patient (United States)

    Akeda, Koji; Tsujii, Masaya; Sudo, Akihiro


    Symptomatic Tarlov (perineural cysts) are uncommon. In the following hemodialysis case, cauda equina syndrome was not detected after combined spinal-epidural anesthesia untilthe patient reported a lack of sensation in the perianal area 14 days postoperatively. She had normal motor function of her extremities. A laminectomy and cyst irrigation was performed. After the operation, her sphincter disturbance subsided gradually and her symptoms had disappeared. PMID:24066221

  11. [Compression of the cauda equina by osteoarthritic pseudo-spondylolisthesis, with overlying signs of deficit. The possible role of a venous mechanism]. (United States)

    Meneses, M S; Tadie, M; Clavier, E; Brissaud, E; Creissard, P


    The authors report the case of a patient suffering from paraparesis where a venous pathology seemed to be responsible, and the literature is reviewed. A cauda-equina compression by L4/L5 arthrosic pseudo-spondylolisthesis caused troubles of the spinal cord venous drainage, seen at the myelography. There was a neurological deficit above the L4/L5 compression with a psoas and quadriceps deficit. After a L4/L5 laminectomy the neurological signs improved rapidly.

  12. Clinical presentation, histology, and treatment in 430 patients with primary tumors of the spinal cord, spinal meninges, or cauda equina. (United States)

    Engelhard, Herbert H; Villano, J Lee; Porter, Kimberly R; Stewart, Andrew K; Barua, Manali; Barker, Fred G; Newton, Herbert B


    OBJECT Patients having a primary tumor of the spinal cord, spinal meninges or cauda equina, are relatively rare. Neurosurgeons encounter and treat such patients, and need to be aware of their clinical presentation, tumor types, treatment options, and potential complications. The purpose of this paper is to report results from a series of 430 patients with primary intraspinal tumors, taken from a larger cohort of 9661 patients with primary tumors of the CNS. METHODS Extensive information on individuals diagnosed (in the year 2000) as having a primary CNS neoplasm was prospectively collected in a Patient Care Evaluation Study conducted by the Commission on Cancer of the American College of Surgeons. Data from US hospital cancer registries were submitted directly to the National Cancer Database. Intraspinal tumor cases were identified based on ICD-O-2 topography codes C70.1, C72.0, and C72.1. Analyses were performed using SPSS. RESULTS Patients with primary intraspinal tumors represented 4.5% of the CNS tumor group, and had a mean age of 49.3 years. Pain was the most common presenting symptom, while the most common tumor types were meningioma (24.4%), ependymoma (23.7%), and schwannoma (21.2%). Resection, surgical biopsy, or both were performed in 89.3% of cases. Complications were low, but included neurological worsening (2.2%) and infection (1.6%). Radiation therapy and chemotherapy were administered to 20.3% and 5.6% of patients, respectively. CONCLUSIONS Data from this study are suitable for benchmarking, describing prevailing patterns of care, and generating additional hypotheses for future studies.

  13. 犬马尾与骶神经根的解剖学观察%Anatomical observation of the cauda equina and sacral roots in canine

    Institute of Scientific and Technical Information of China (English)

    张世民; 侯春林; 徐瑞生


    Objective:To provide anatomical basis for the neurourological study of the cauda equina and sacral roots in canine.Methods:Anatomical character of the cauda equina and sacral roots were observed and summaried on 22 dogs when they are dissecting after perfusion.Results:The neural innervations of pelvic were provided by S1-S3 spinal cord segments and corresponding sacral roots.The conus medullary were long and teminated at the 6th lumbar vertebrae.The ventral and dorsal foots of spinal nerves were surrounded by meningeal tubes separately for 1~1.5 cm,till the point of dorsal root ganglion.Conclusion:There are some difference in anatomical character of cauda equina and sacral roots between dog and human.%目的:为从马尾和骶神经根途径开展犬的神经泌尿学研究提供解剖依据。方法:对3只犬灌注后进行解剖,并对22只犬进行术中观察,总结马尾、骶神经根的解剖特征。结果:犬的盆底器官由S1~S2脊髓节段和神经根支配;脊髓圆锥延续较长,达L6椎体下缘,而马尾神经较短;髓神经前后根出硬膜后,有各自独立的硬膜囊包绕直至后根神经节处,长1~1.5 cm。结论:犬马尾和骶神经根的解剖特征与人类不同。

  14. Pathological mechanism of sensory disturbance caused by cauda equina nerve damage%马尾神经损害导致鞍区感觉障碍的病理机制

    Institute of Scientific and Technical Information of China (English)

    史建刚; 贾连顺; 袁文; 叶晓健; 谭军; 贾宁阳


    目的:初步探讨马尾神经损害导致马尾神经综合征,引以感觉障碍的原因.方法:纯种健康雄性新西兰兔40只,按随机数字表法分为3组,非手术对照组10只,手术不加压对照组10只,模型组30只;模型组再根据加压螺丝进入椎管矢状径的深度分为进入1/9,2/9,1/2.模型组加压装置置于S2-3压迫马尾神经组.取不同时间段的马尾神经综合征的模型的神经根的后根节,作HE染色对其内正常感觉神经元细胞记数.结果:临床出现马尾神经综合征1/2 d,将导致双侧后根节缺血水肿,节内神经元细胞坏死.后根节的正常细胞记数:3,7,30 d时非手术对照组左侧为(32.2±4.2),(32.2±4.3),(32.2±4.3)/mm2;手术不加压对照组左侧为(32.2±2.3),(32.2±4.3),(32.2±3.1)/mm2;实验组左侧为(17.2±3.3),(14.2±3.2),(14.1±2.3)/mm2;差异有显著性意义(P<0.05).结论:背根结内的感觉神经元极敏感,极易坏死,是马尾神经损害顺行溃变的重要病理变化之一,是导致鞍区麻木、感觉障碍,难以恢复的重要原因.%AIM: To study the pathological mechanism of sensory disturbance caused by cauda equina nerve damage.METHODS: Fifty pure breed healthy male New Zealand rabbits were devided into three groups randomly: non-treatment group(10 rabbits);non-compression control group(10 rabbits) and trial group(30 rabbits) . At the following time points(1/4, 1/2, 3, 7 and 15 days). According to the of the compressor screw the sagittal diameter of vertebral canal, the model group was divided into 1/9, 2/9, 1/2. The compression devices were fixed between S2 and S3 to compress cauda equina. Posterior root ganglion was removed from the model with cauda equina nerve syndrome at different time point, and stained with HE. The number of normal sensory neuron cells were counted.RESULTS: After cauda equina nerve syndrome occurred for 1/2 day, there was ischemia and edema in two sides of posterior root ganglion and cellular necrosis of

  15. 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


    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.

  16. 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: [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)


    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

  17. Síndrome de cauda eqüina produzida por melanoma

    Directory of Open Access Journals (Sweden)

    J. Lamartine de Assis

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

  18. Brucellar spondylodiscitis with rapidly progressive spinal epidural abscess showing cauda equina syndrome. (United States)

    Hu, Tan; Wu, Ji; Zheng, Chao; Wu, Di


    Early diagnosis of Brucellosis is often difficult in the patient with only single non-specific symptom because of its rarity. We report a patient with Brucellar spondylodiscitis, in which the low back pain was the only symptom and the magnetic resonance imaging (MRI) showed not radiographic features about infection at initial stage. He was misdiagnosed as a lumbar disc herniation for inappropriate treatment in a long time. The delay in diagnosis and correct treatment led to rapid progression of the disease and severe complications. The patient was treated successfully with triple-antibiotic and surgical intervention in the end. Brucellar spondylodiscitis should always be suspended in the differential diagnosis specially when the patient comes from an endemic area or has consumed dairy products from animals in such an area and comprehensive examination should be done for the patent to rule out some important diseases like Brucellosis with sufficient reasons.

  19. 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


    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.

  20. 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)


    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.


    Directory of Open Access Journals (Sweden)



    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

  2. 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


    @@ 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.

  3. Lumbar disc herniation and cauda equina syndrome following spinal manipulative therapy: a review of six court decisions in Canada. (United States)

    Boucher, Pierre; Robidoux, Sébastien


    The purpose of this review is to expand practitioners' knowledge on areas of liability when treating low back pain patients. Six cases where chiropractors in Canada were sued for allegedly causing or aggravating lumbar disc herniation after spinal manipulative therapy were retrieved using the CANLII search database. The case series involves 4 men and 2 women with an average age of 37.3 years (range, 31-48 years). Trial courts' decisions were rendered between 2000 and 2011. This study highlights the following conclusions from Canadian courts: 1) informed consent is an ongoing process that cannot be entirely delegated to office personnel; 2) when the patient's history reveals risk factors for lumbar disc herniation the chiropractor has the duty to rule out disc pathology as an etiology for the symptoms presented by the patients before beginning anything but conservative palliative treatment; 3) lumbar disc herniation may be triggered by spinal manipulative therapy on vertebral segments distant from the involved herniated disc such as the thoracic spine.

  4. 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


    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.

  5. 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


    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.

  6. Study on interference of miao medicine sheng xian decoction on protein expression of brain-derived neuro-trophic factor in the sacral spinal cord of rats with cauda equina injury%苗药生仙汤对马尾损伤大鼠骶髓脑源性神经营养因子蛋白表达干预的研究

    Institute of Scientific and Technical Information of China (English)

    张磊; 熊屹; 王泽兰


    Objective Brain -derived neurophic factor ( BDNF) has played an important role in the repair of cauda equina Injury.The aim of this article was to observe the influences of Miao medicine Sheng Xian Decoction on structural change and BDNF protein expression in the sacral spinal cord of rats with cauda equina injury . Methods The rat model of cauda equina injury was es-tablished by using nerve clamping .Rats were randomly divided into the following groups:normal group , control group , Miao medicine group and mecobalamin group , 15 rats in each group .According to the death time after modeling , the rats in each group were subdivi-ded into 1d group, 7d group and 14d group, 5 in each subgroup.The nerve function recovery of rats in every group was observed through Basso , Beattie & Bresnahan locomotor rating score ( BBB score ) .The structural change of sacral spinal cord was observed(11.40 ±1.14) and the mecobalamin group (11.40 ±0.89) (P>0.05).On the 7th, 14th day after modeling, the scores of the Miao medicine group (17.0 ±1.00, 19.60 ±0.55) and the mecobalamin group (16.2 ±0.84, 18.80 ±0.84) were much higher than the control group (14.00 ±0.70, 16.40 ±0.55) (P0.05).The scores of the control group , the Miao medicine group and the mecobalamin group showed an increasing tendency with time, and the difference of scores among the groups are of statistical significance (P0.05).On the 7th and 14th day after modeling, the MOD values of the Miao medicine group (0.205 ±0.009, 0.183 ±0.008) and the mecobalamin group (0.217 ±0.033, 0.187 ±0.007) were much higher than that of the control group (0.181 ±0.007, 0.161 ±0.014), which was of significant difference (P0.05).The MOD values of the control group , the Miao medicine group and the mecobalamin group showed a tendency of increase followed by decrease with time .The MOD values of 3 subgroups in the Miao medicine group and the mecobalamin group had no statistical significance (P>0.05).The MOD value of 14d

  7. Síndrome de cauda equina por hernia discal gigante


    Barriga, A.; Villas, C.


    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...


    Directory of Open Access Journals (Sweden)

    Zhelyazkov Christo


    Full Text Available Objective: To analyze and present cases of tandem compression of medulla spinalis and cauda equina. Material and Methods: The subjects of observation were four patients with simultaneous compression of medulla spinalis and cauda equina, admitted to the Neurosurgery Clinic of the St George University Hospital, Plovdiv, Bulgaria during the period March 2012 — March 2014. The average age of the patients was 60.5 years (47–72. In one case, left-sided paramedian herniated discs were found at levels L1–2 and L4–5 combined with a concomitant stenosis, in another case — right-sided paramedian herniated discs on the level of Th12 — L1 and a degenerative stenosis at level of L3–4, in the third case — pronounced degenerative compression at level Th7–8 and a central stenosis at level of L4–5, and in the last case — degenerative stenosis at level L3–5 and spinal meningioma at level Th9–10. Results: The clinical signs of the simultaneous compression of the spinal cord and cauda equina have been examined. These signs may mislead the physician in the diagnosis of the spinal lesion, thus, resulting in inappropriate surgical strategy. Conclusion: The involvement of the spinal cord must be clinically confirmed to rule out lesions in the thoracic region. When the lumbar imaging examinations are inconclusive or cannot explain the clinical symptoms of a certain patient, it is advisable to perform a magnetic resonance imaging of the entire spin

  9. Tuberculous lumbar arachnoiditis mimicking conus cauda tumor: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Subhas K Konar


    Full Text Available Tuberculous spinal arachnoiditis involving cauda equina is rare. A patient with lumbar tuberculous arachnoiditis in the absence of both vertebral and meningeal tuberculosis, which was mimicking spinal intradural extramedullary tumor is described here. Diagnosis was made based on intraoperative findings and was confirmed by histopathology. Surgical decompression along with a combination of steroid and antitubercular therapy resulted in a good outcome. At 3 months follow-up, the patient regained bladder control and was able to walk with support. Clinical features, magnetic resonance imaging, and intraoperative findings are described. Pathology and the relevant literature are discussed. Based on the patient′s clinical and radiologic findings, it was believed that the patient had a conus cauda tumor and was operated on. Histologic examination of the mass revealed tuberculoma. Surgical decompression followed by antituberculosis medication resulted in good outcome. Hence tuberculous arachnoiditis should be considered in differential diagnosis of conus cauda tumors.

  10. Na Cauda do Cometa (United States)

    Voelzke, M. R.


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

  11. Caudal Regression Syndrome

    Directory of Open Access Journals (Sweden)

    Karim Hardani*


    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.

  12. Cauda-conus syndrome resulting from neurocysticercosis

    Directory of Open Access Journals (Sweden)

    Singh N


    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.

  13. Distribuição intraneural das artérias na cauda eqüina de recém-nascidos

    Directory of Open Access Journals (Sweden)

    Fernando Matamala-Vargas


    Full Text Available Realizou-se estudo mesoscópico da irrigação da medula lombo-sacra e das raízes da cauda equina em cadáveres de 18 recém-nascidos brasileiros de ambos os sexos. Destes espécimes, 50% foram injetados através dia parte abdominal da aorta com látex neoprene 650 Dupont, enquanto os restantes foram injetados pela mesma via com solução de gelatina a 5% corada com tinta nankim preta. Posteriormente, os blocos formados pela medula e cauda equina destes últimos foram diafanizados segundo a técnica de Spalteholz. Determinamos, em relação às raízes nervosas lombo-sacras, a presença de dois tipos arteriais: (a artérias radiculares proximais e distais destinadas à irrigação destas raízes e que apresentam, no terço médio da raiz, uma área de menor densidade vascular ou de hipovascularização; (b artérias espinhais segmentares que, em número irregular e mais frequentes no lado esquerdo, de calibre maior que o das radiculares, acompanham as raízes, tanastomosando-se com as artérias espinhais, não emitindo ramos colaterais a qualquer raiz nervosa.

  14. Urgent discectomy: Clinical features and neurological outcome

    Directory of Open Access Journals (Sweden)

    Ruth Albert


    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.

  15. Seasonal variations of cauda epididymal spermatozoa of bucks

    Directory of Open Access Journals (Sweden)

    Dilip Kumar Swain


    Full Text Available Objective: The study was conducted to evaluate the influence of season on cauda epididymal spermatozoa isolated from bucks. Materials and methods: Testes of 30 mature bucks were collected from local slaughter house, and were processed for the retrieval of cauda epididymal spermatozoa for evaluation. Testes were collected in three seasons (winter, summer and rainy, and each season was having 10 pairs of testicles. Recovered spermatozoa from the cauda epididymis were processed immediately for evaluation of semen attributes (Spermatozoa motility, viability, plasma membrane integrity, acrosomal status and DNA integrity. Results: Physiological effect of season was observed on progressive motility, percent of live spermatozoa, spermatozoal membrane integrity (HOST, acrosomal integrity, capacitation status and DNA integrity. Progressive motility, percent live spermatozoa, HOST positive spermatozoa, were found significantly (P<0.05 high in summer season, whereas, significantly (P<0.05 lower comet positive spermatozoa were found in summer season as compared to rainy and winter. Compromised acrosomal status was seen in winter and rainy seasons as compared to summer. Conclusion: Compromised acrosome along with plasma membrane and higher percentage of spermatozoa with damaged DNA in cauda spermatozoa were observed during winter and rainy seasons as compared to summer season. Summer season was found to be the most suitable season for collection of cauda epididymal spermatozoa and can effectively be used for assisted reproduction with further investigations of associated mechanisms. [J Adv Vet Anim Res 2016; 3(3.000: 263-267

  16. 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


    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.


    Directory of Open Access Journals (Sweden)

    Albeiro López-Herrera


    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.

  18. Sperm quiescence in cauda epididymis: a mini-review

    Institute of Scientific and Technical Information of China (English)

    Ramtej Jayram Verma


    The concentration of sodium chloride is of prime importance in the initiation and reversal of sperm quiescence in the cauda epididymis. Other factors such as inorganic and organic constituents of the luminal fluid are of secondary importance and might assist in inducing sperm quiescence.

  19. Spinal subarachnoid hematoma in a woman with HELLP syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Fujimaki Hisako


    Full Text Available Abstract Introduction Subarachnoid hemorrhages of spinal origin are extremely rare during pregnancy. We present the case of a patient with hemolytic anemia, elevated liver enzymes and low platelet count (the so-called HELLP syndrome, a potentially life-threatening complication associated with pre-eclampsia, who presented with an idiopathic spinal subarachnoid hematoma. Case presentation At 29 gestational weeks, a 35-year-old Japanese woman was diagnosed with HELLP syndrome based on bilateral leg paralysis, diminished sensation and reflexes, and laboratory findings. The pregnancy was immediately brought to an end by Cesarean delivery. Post-operatively, an MRI scan revealed a space-occupying lesion in her thoracic spinal canal. Emergency decompression was followed by total laminectomy. A subarachnoid hematoma, partially extending as far as the ventral side, was removed. After thorough washing and drain placement, the operation was completed with the suturing of artificial dura mater. Eight months post-operatively, her lower extremity sensation had improved to a score of 8 out of 10, but improvements in her muscular strength were limited to slight gains in her toes. MRI scans taken two months post-operatively revealed edematous spinal cord changes within her medulla. Conclusions A subarachnoid hematoma during pregnancy is extremely rare, possibly due to increased coagulability during pregnancy. However, this complication is potentially devastating should a clot compress the spinal cord or cauda equina. While several causes of hematoma have been proposed, we speculate that the factors underlying hemorrhagic diathesis in our case were the decreased platelet count characteristic of HELLP syndrome and vascular fragility due to elevated estrogen levels, in addition to increased abdominal pressure during pregnancy and pressure from the gravid uterus resulting in ruptured vessels around the spinal cord. In cases displaying a progressive lesion and severe

  20. Use of GDNF-Releasing Nanofiber Nerve Guide Conduits for the Repair of Conus Medullaris/Cauda Equina Injury in the Nonhuman Primate (United States)


    form of adult female rhesus monkeys were selected for pre-surgical testing and enrollment in these studies. The selection and screening process was...pass the behavioral criteria needed for successful participation in our study. During the first year of the project, we developed an algorithm to...evaluation, as well as successfully implementing our procedures for animal enrollment and testing. This algorithm for animal selection was also followed

  1. Use of GDNF-Releasing Nanofiber Nerve Guide Conduits for the Repair of Conus Medullaris/Cauda Equina Injury in the Non-Human Primate (United States)


    University). At the onset of the project, research subjects in the form of adult female rhesus monkeys were selected for pre-surgical testing and were...During the first year of the project, we developed an algorithm to ensure selection of suitable subjects for these studies. While the pre-surgical...testing. These algorithms for subject identification, selection and evaluation were also implemented during years 2 and 3 of the project. Prior

  2. Use of GDNF-Releasing Nanofiber Nerve Guide Conduits for the Repair of Conus Medullaris/Cauda Equina Injury in the Nonhuman Primate (United States)


    load the biodegradable fibers to the lumen of the nerve guidance conduits (NGCs) as shown in Fig. 1. This new configuration aims to increase the...available surface area of aligned fibers to provide even more directional guidance to the regenerating axons. With our previous- generation design...longitudinally aligned fibers lined only the innermost surface of the conduit wall. This new nanofiber NGC design provides a greater number of

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

    Directory of Open Access Journals (Sweden)

    Loredana Stabili


    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.

  4. Myelopathy-mimicking symptoms of epidural venous engorgement and syringomyelia due to inferior vena cava stenosis at the thoracolumbar junction in a patient with Budd-Chiari syndrome. (United States)

    Lee, Jung-Hee; Song, Wook-Jae; Kang, Kyung-Chung


    Epidural venous engorgement can result from various lesions, such as arteriovenous malformation, thrombosis or occlusion of the inferior vena cava (IVC), or an abdominal masslike lesion. Most patients with these problems complain of low-back pain, radicular pain, or neurogenic claudication, which are symptoms suggestive of disc herniation or spinal stenosis. However, these patients rarely exhibit neurological deficits or cauda equina syndrome. The authors encountered a case of a 60-year-old man presenting with lower-extremity weakness and voiding difficulty for a period of 1 year. To investigate the patient's myelopathy-mimicking symptoms, a lumbar spine MRI scan was performed. The MR images exhibited tortuous and dilated spinal vessels compressing the spinal cord and thecal sac at the T11-L3 level, which were concurrent with syringomyelia evidenced by a 22 × 2.5-mm cyst at the T11-12 level. 3D CT scanning of the whole aorta revealed total occlusion and regression of the IVC in the intrahepatic region 3 cm inferior to the right atrium and dilation of multiple collateral veins. The patient was diagnosed with chronic Budd-Chiari syndrome Type I. The authors performed venography, followed by intrahepatic IVC recanalization via stent placement under fluoroscopic and ultra sonographic guidance and without surgical exploration. After this treatment, there was a marked decrease in epidural venous engorgement and the patient's symptoms resolved almost completely. This case indicates that epidural venous engorgement at thoracolumbar levels may cause symptoms suggestive of myelopathy and can be successfully treated by minimally invasive procedures to eliminate the underlying causes.

  5. In vitro fertilization using frozen-thawed feline epididymal spermatozoa from corpus and cauda regions. (United States)

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


    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 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.

  6. Cauda Epididymis Spermatozoa: Cryopreservation and Utilization for Artificial Insemination and In Vitro Fertilization

    Directory of Open Access Journals (Sweden)

    Fitra Aji Pamungkas


    Full Text Available Genetic material either from animals of economical interest or from wildlife conservation can be lost anytime by unexpected death of the animal, low libido, or disorder at reproduction. In this case, an effort can be made occur to avoid the total lost of that genetic material by using an epididymis spermatozoa. Cauda epididymis spermatozoa generally motile, mature and can be used to fertilize oocytes as well as ejaculated spermatozoa. Some research indicated that cryopreservation of cauda epididymis spermatozoa for the purpose of artificial insemination and in vitro fertilization showed the ability to fertilize oocytes and produce offspring.

  7. Effects of dietary selenium (SE) on morphology of testis and cauda epididymis in rats. (United States)

    Kaur, R; Kaur, K


    Selenium is an essential micronutrient for animals. To determine whether its excess in diet induces morphological changes within the male reproductive system, a detailed qualitative and quantitative evaluation of the changes in the histology of the testis and cauda epididymis was undertaken in male rats. Adult male albino rats were fed 6 and 8 ppm Se in diet for 6 and 9 weeks. Each male consuming 6 ppm Se was mated with two untreated females, their offsprings were allowed to mature upto 12 weeks of age. The testes and cauda epididymes of male rats were prepared for light microscopy. Excess of dietary Se caused dose-time-dependent reduction in body weight and reproductive organ weights but increase in number of morphologically abnormal spermatozoa. Histopathological studies of the testes and cauda epididymis have revealed that Se-rich diets cause dose-time-dependent reduction in tubular diameter, epithelial height, number of spermatogenic cells and disintegration of cellular associations in the seminiferous tubules of testes along with reduction in the diameter of cauda epididymal tubules and pseudostratification of their epithelial lining. Progeny (feeding on normal diet) of paternally treated rats has shown retarded growth.

  8. Subcutaneous phaeohyphomycosis caused by Exophiala equina, with susceptibility to eight antifungal drugs. (United States)

    Najafzadeh, Mohammad Javad; Suh, Moo Kyu; Lee, Myung Hoon; Ha, Gyoung Yim; Kim, Jung Ran; Kim, Tae Heung; Lee, Hyo Jin; Choi, Jong Soo; Meis, Jacques F; De Hoog, G Sybren


    A case of subcutaneous phaeohyphomycosis caused by Exophiala equina is reported in a 75-year-old female, who showed subcutaneous abscesses on both forearms for 8 months. A lesion was initiated by inoculation with a spine from a tree. Histopathologically, suppurative granulomatous inflammation was present and short hyphal elements were observed. Upon culture greyish-black, velvety colonies of a black yeast were obtained after 3 weeks. The strain grew well at 25 °C, but poorly at 37 °C. After sequencing the internal transcribed spacer domain and the partial β-tubulin gene, the fungus was identified as E. equina. The patient was successfully treated with fluconazole for 3 months.

  9. 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


    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.

  10. Structure of the lining epithelium of the cauda epididymis of the golden hamster. (United States)

    Beu, C C L; Orsi, A M; Domeniconi, R F


    The ductus epididymis has roles in the maturation and storage of spermatozoa. The main function of the cauda epididymis is the storage of spermatozoa; however, this region exerts other morphophysiological roles. So, this study was aimed at investigating structural features of the cauda epididymis epithelium, which could indicate roles other than the storage. The relative percentages of the cell types in the epithelium were 74.9, 6.9, 12.5 and 5.6% of principal, clear, basal and halo cells respectively. Large intercellular spaces were seen among the lateral plasmatic membranes of adjacent principal cells or among these cells and others cell types. These spaces were found to be filled with multivesicular bodies, myelin figures, scrolls and debris of membranes or flocculent dense material. Clear cells had the cytoplasms filled with lysosomes ((3/4) of basal cytoplasm), and vacuoles and vesicles ((1/4) of apical cytoplasm). The observations allowed us to infer that clear cells could act in the process of endocytosis and also in water transfer from the lumen to the interstitium through the epithelium compartment. Moreover, transcytosis may occur at the cauda epididymis of Golden hamster.

  11. Reversible bladder denervation in acute polyradiculitis

    DEFF Research Database (Denmark)

    Kamper, A L; Andersen, J T


    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 ...

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

    Directory of Open Access Journals (Sweden)

    Karinny F. Campos


    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.

  13. 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.

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

    Briffa, Mark; Greenaway, Julie


    '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.

  15. 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.


    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

  16. Effect of tacrolimus on the cauda epididymis in rats: analysis of epididymal biochemical markers or antioxidant defense enzymes. (United States)

    Hisatomi, Akihiko; Sakuma, Shozo; Fujiwara, Michio; Seki, Jiro


    The effect of tacrolimus on epididymal biochemical markers was investigated following single daily subcutaneous doses of 1, 2 and 3 mg kg(-1) day(-1) for 2 weeks to male adult rats. The tacrolimus 2 and 3 mg kg(-1) day(-1) groups showed a significant and dose-dependent decrease in sperm count in the cauda epididymis. Among tissue levels of L-carnitine, alpha-glucosidase and acid phosphatase, only L-carnitine level in the cauda epididymis was significantly reduced in the tacrolimus 3 mg kg(-1)day(-1) group. However, no significant difference was seen in the plasma L-carnitine. It was suggested that lowering of L-carnitine in the cauda epididymis was attributable to the adverse effect on epididymal function to transport and/or concentrate L-carnitine. Since L-carnitine has been reported to have antioxidant potential, antioxidant defense enzymes in the cauda epididymis such as superoxide dismutase (SOD), catalase, glutathione peroxidase and glutathione reductase were evaluated. The results showed no significant differences in activities, confirming that the treatment with tacrolimus did not affect the activities of these antioxidant enzymes. In conclusion, this study indicates that tacrolimus induces a decrease in L-carnitine level in the cauda epididymis, which is probably caused by impairment of epididymal function to transport and/or concentrate L-carnitine from bloodstream, and a decrease in sperm count.

  17. 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


    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.

  18. Eventos de Desconexao na Cauda de Plasma do Cometa P/Halley (United States)

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


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

  19. 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*


    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

  20. Ultrastructure of the epithelium lining of cauda epididymidis in mongrel dogs Ultraestrutura do epitélio de revestimento da cauda epididimária em cães sem raça definida

    Directory of Open Access Journals (Sweden)

    Bruno C. Schimming


    Full Text Available The epithelium lining of cauda epididymidis in mongrel dogs was examined by transmission electron microscopy. The epididymal epithelium is pseudostratified with stereocilia and is composed predominantly of principal and clear cells. Therefore, exist basal and apical cells. The principal and clear cells show features suggesting that they may be preferentially involved in absorptive and secretive functions. These results are compared with previously published data on the cauda epididymidis of other mammalian species, in order to understand the significance of the epididymis in sperm maturation.O epitélio de revestimento da cauda epididimária em cães sem raça definida foi examinado através da microscopia eletrônica de transmissão. O epitélio epididimário é pseudoestratificado com estereocílios na borda luminal e é composto principalmente por células principais e claras. Além destes tipos, foi observado algumas células basais e apicais. As células principais e claras apresentaram características ultra-estruturais que sugerem que as mesmas estão envolvidas com funções absortivas e secretórias. Os resultados foram comparados com estudos prévios realizados na cauda do ducto epididimário de outros mamíferos, com o objetivo de melhor entender o papel do epidídimo na maturação espermática.

  1. Desenvolvimento de um sistema modificado de suspensão do rato pela cauda, como modelo de osteopenia


    Mauricio José Falcai


    Introdução: A suspensão do rato pela cauda é método usado para simular os efeitos da microgravidade e hipoatividade física sobre o sistema musculoesquelético e outros sistemas. O método convencional usa a tração cutânea para a fixação da cauda do animal ao sistema de suspensão, sendo idealmente aplicado durante até três semanas. Depois desse período surgem lesões cutâneas, situações estressantes e soltura dos animais. Estes fatos limitam observações por períodos mais longos. O objetivo deste ...


    Directory of Open Access Journals (Sweden)

    P. Sarmiento


    Full Text Available El presente estudio tiene como objetivo fundamental establecer la prevalencia del virus causante de la anemia infecciosa equina (AIE en dos poblaciones diferentes de equinos utilizados para el transporte y carga, establecidas en los departamentos de La Guajira y el Chocó. Se analizaron 123 muestras de sangre de las poblaciones equinas anteriormente mencionadas, utilizando el test de Coggins con el fin de detectar la presencia de anticuerpos específicos para la proteína p26, la cual hace parte de la cápside del virus.

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

    Directory of Open Access Journals (Sweden)

    Yoenny Peña García


    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.

  4. Células madre mesenquimales equinas: Obtención y análisis de sus propiedades in vitro


    Ranera Beltrán, Beatriz; Rodellar Penella, Clementina; Martín Burriel, Inmaculada


    Las células madre mesenquimales (MSCs) presentan una capacidad de autorrenovación y diferenciación a linajes derivados del mesodermo que las hacen idóneas para su aplicación en el tratamiento de lesiones del aparato locomotor en la especie equina. Las lesiones más comunes que sufren los caballos de carreras afectan a tejidos como el tendón o cartílago, que presentan una capacidad muy limitada de reparación. Las MSCs pueden contribuir a la formación de un tejido con propiedades similares a las...

  5. Epidemiologia da pitiose equina na Região Sul do Rio Grande do Sul

    Directory of Open Access Journals (Sweden)

    Clairton Marcolongo-Pereira


    Full Text Available Foi realizado um levantamento dos casos de pitiose equina recebidos no Laboratório Regional de Diagnóstico da Faculdade de Veterinária da Universidade Federal de Pelotas, no período de janeiro de 1979 a julho de 2011, com o objetivo de determinar as condições epidemiológicas em que a doença ocorre na região sul do Rio Grande do Sul. Nesse período foram recebidos 1888 materiais de equinos, dos quais, 435 eram provenientes do sistema tegumentar e 63 (14,5% corresponderam à pitiose. Os animais afetados eram de ambos os sexos com idades variando entre oito meses e 22 anos. A raça mais frequentemente afetada foi a Crioula. A maioria dos casos de pitiose foi encaminhada ao laboratório entre março e junho. A evolução das lesões de pitiose variou de duas semanas até um ano. Os municípios com maior número de casos de pitiose foram Pelotas (22/63 Santa Vitória do Palmar (15/63 e Rio Grande (8/63. Foi observado que na maioria dos casos, no mês provável de infecção a temperatura máxima foi superior ou próxima a 30°C em pelo menos um dia. A observação de casos em épocas mais frias do ano pode ser devido ao fato da temperatura de águas estagnadas ser mais elevada que a temperatura ambiental o que permite o desenvolvimento das estruturas infectantes de Pythium insidiosum.

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

    Directory of Open Access Journals (Sweden)

    Beatriz Elena Patiño-Quiroz


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

  7. Symptomatic lumbosacral perineural cysts: A report of three cases and review of literature (United States)

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


    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

  8. 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


    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.

  9. Tarlov cysts: a report of two cases. (United States)

    Sen, Ramesh Kumar; Goyal, Tarun; Tripathy, Sujit Kumar; Chakraborty, Soumya


    Perineural cysts are common and usually detected incidentally during magnetic resonance imaging of the lumbosacral spine. Treatment is indicated only when the cyst is symptomatic. We report one such patients presented with cauda equina syndrome and another with low back pain with claudication. They underwent excision and duraplasty; both motor and sensory fibres were carefully separated from the cyst wall using a nerve root retractor and penfield. There was no nerve root damage or neural deficit. Symptoms were relieved postoperatively.

  10. MRI of the axial skeletal manifestations of ankylosing spondylitis

    Energy Technology Data Exchange (ETDEWEB)

    Levine, D.S.; Forbat, S.M.; Saifuddin, A. E-mail:


    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.

  11. Enhanced spinal MRI in diagnosis of Guillain-Barré syndrome in children%脊柱增强MRI诊断儿童吉兰-巴雷综合征

    Institute of Scientific and Technical Information of China (English)

    黄晶; 蔡金华; 郑鹤琳; 程敏


    Objective To investigate the value of spinal enhanced MRI in diagnosis of Guillain-Barré syndrome (GBS) in children.Methods Totally 13 pediatric patients with GBS clinically confirmed who underwent plain and enhanced MR of spine were retrospectively analyzed.Results Enhanced MRI showed that lumbosacral nerve roots and cauda equina were enhanced in all the cases.There were 4 cases (4/13,30.77%) with enhance of anterior nerve root (type Ⅰ) and 9 cases (9/13,69.23%) with enhance of both anterior and posterior nerve root (type Ⅱ).In type Ⅱ,enhancement of anterior nerve root was stronger than posterior nerve root in 6 cases,equal to posterior nerve root in 2 cases,and weaker than posterior nerve root in 1 case.Conclusion Spinal enhanced MRI is highly valuable for diagnosis of GBS in children.%目的 探讨脊柱增强MRI对儿童吉兰-巴雷综合征(GBS)的诊断价值.方法 回顾性分析经临床证实为GBS,并接受脊柱MR平扫及增强扫描的13例患儿的临床及影像学资料.结果 MR增强扫描显示腰骶段脊神经根和马尾均不同程度强化,仅前根强化(Ⅰ型)4例(4/13,30.77%);前、后根均强化(Ⅱ型)9例(9/13,69.23%),其中6例前根较后根强化明显,2例前、后根强化程度相近,1例后根较前根强化明显.结论 脊柱增强MRI对诊断GBS具有重要价值.

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

    Directory of Open Access Journals (Sweden)

    Carina Martins de Moraes


    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

  13. Symptomatic Tarlov cyst: report and review. (United States)

    Chaiyabud, Pradit; Suwanpratheep, Kitti


    Tarlov or perineural cysts are nerve root cysts found most commonly at the sacral spine level arising between covering layers of the perineurium and the endoneurium near the dorsal root ganglion. The cysts are relatively rare and most of them are asymptomatic. Some Tarlov cysts can exert pressure on nerve elements resulting in pain, radiculopathy and even multiple radiculopathy of cauda equina. There is no consensus on the appropriate therapeutic options of Tarlov cysts. The authors present a case of two sacral cysts diagnosed with magnetic resonance imaging. The initial symptoms were low back pain and sciatica and progressed to cauda equina syndrome. Surgical treatment was performed by sacral laminectomy and wide cyst fenestration. The neurological deficits were recovered and had not recurred after a follow-up period of nine months. The literature was reviewed and discussed. This is the first reported case in Thailand.

  14. Antígeno heterólogo no diagnóstico imunológico da wuchereriose: extrato de Setaria equina utilizado na reação imunoenzimática - ELISA Heterologous antigen in the immunological diagnosis of wucheriasis: Setaria equina extract used in the immunoenzymatic reaction - ELISA

    Directory of Open Access Journals (Sweden)

    Mário Camargo


    Full Text Available A reação imunoenzimática - ELISA foi empregada na sorologia da Wuchereriose, utilizando como antígeno extrato bruto de verme adulto de Setaria equina. Foram estudados soros de 139 indivíduos em três grupos: grupo 1 - de pacientes com diagnóstico parasitológico de Wuchereriose; grupo 2 - de pacientes com diversas patologias; grupo 3 - de pessoas clinicamente normais, de área endêmica e não endêmica. O antígeno utilizado mostrou alta comunidade antigênica coma W. bancrofti. As reações cruzadas, obtidas em particular com soros de pacientes com parasitoses intestinais (áscaris, ancilóstoma recomendam a investigação de frações antigênicas de Setaria equina que possam fornecer testes de maior especificidade.A total extract of Setaria equina adult worms was used as antigen in the enzyme-linked immunosorbant assay - ELISA - for serological diagnosis of Wuchereriasis. Patients were included with a parasitological diagnosis of Wuchereriasis, with other diseases, as well as clinically normal individuals, in a total of 139 cases. The high titers observed for Wuchereriasis patients indicated a close antigenic community between S. equina and W. bancrofti. However, the frequent reactivity found in other parasitic diseases, especially intestinal parasitoses, suggests antigenic fractions should be investigated which could furnish higher specificity in the test.

  15. Sperm antioxidant defences decrease during epididymal transit from caput to cauda in parallel with increases in epididymal fluid in the goat (Capra hircus). (United States)

    Rana, Mashidur; Roy, Sudhir C; Divyashree, Bannur C


    The status of antioxidant defences of both spermatozoa and their associated fluids during epididymal transit from the caput to cauda have not been studied so far in any species. Herein we report for the first time that sperm antioxidant defences, namely Cu,Zn-superoxide dismutase (Cu,Zn-SOD) and catalase activity, decrease significantly (PZn-SOD, total SOD and total glutathione peroxidase (GPx) activity in the luminal fluid of the respective segments. However, levels of GPX1 and GPX3 in epididymal fluid did not change significantly from the caput to cauda. Catalase was detected for the first time in goat spermatozoa. A significantly higher total antioxidant capacity of caudal fluid than of the caput suggests a requirement for a rich antioxidant environment for the storage of spermatozoa. The retention of cytoplasmic droplets in most of the caudal spermatozoa confirmed that these droplets do not contribute to the increased antioxidant defences of cauda epididymidal fluid. Thus, the antioxidant defences of the spermatozoa and their associated epididymal fluid are modulated from the caput to cauda in a region-specific manner. This may be one of the compensatory mechanisms of epididymal fluid to scavenge any excess reactive oxygen species produced in the microenvironment of spermatozoa.

  16. 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


    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.

  17. Análise Temporal de Estruturas Morfológicas na Cauda do Tipo I do Cometa P/Halley (United States)

    Voelzke, M. R.; Matsuura, O. T.


    Com base em (Brandt et al, 1992), centenas de imagens do cometa P/Halley foram visualmente analisadas, objetivando examinar possíveis perturbações magnetohidrodinâmicas ao longo da cauda do tipo I. Do total de 1439 imagens, abrangendo o período entre 16 de outubro de 1982 e 12 de fevereiro de 1991, foram escolhidas 531 do período entre 17 de setembro de 1985 e 06 de julho de 1986 por mostrarem cauda bem desenvolvida e rica de estruturas morfológicas. Nelas constatou-se a existência de 124 estruturas ondulatórias (trens de onda) ao longo da cauda principal, 27 ao longo de caudas secundárias, 109 ondas solitárias (sólitons) ao longo da cauda principal, 36 ao longo de caudas secundárias, 12 caudas do tipo Swan, 47 eventos de desconexão e 23 regiões de adensamento ("knots"). Foi examinada a correlação temporal entre esses diferentes tipos de eventos. Os de desconexão foram analisados isoladamente. Seus movimentos próprios foram calculados, bem como os seus instantes iniciais, o que nos permitiu inferir a passagem do cometa pela fronteira entre setores magnéticos distintos. A velocidade do plasma cometário desconectado foi corrigida dos efeitos de projeção e correlacionada com a distância heliocêntrica do cometa. Também foi investigada a periodicidade de ocorrência das desconexães, e constatado que sua distribuição é bimodal. Por fim, a possibilidade dos modos de propagação de ondas MHD "sausage" e "kink" superficiais ou volumétricas, é discutida no contexto das descontinuidades magnéticas tangenciais. - Brandt, J.C., Niedner Jr., M.B., Rahe, J.: The International Halley Watch Atlas of Large-Scale Phenomena. Impresso por: Johnson Printing Co, Boulder, CO. University of Colorado-Boulder, 1992.

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


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


    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...

  19. Efecto de la melatonina sobre la apoptosis y activación de la microglia en modelos experimentales de la infección por el virus de encefalitis equina venezolana



    El virus de la encefalitis equina venezolana (EEV) afecta el SNC en humanos y équidos provocando las encefalitis equinas. La melatonina (MLT) posee efecto protector ante las infecciones virales, y su influencia sobre la apoptosis y activación de la microglía ha aumentado su interés como factor en la patogénesis viral. El presente estudio pretende evaluar el efecto de la MLT sobre la apoptosis y activación de la microglia en modelos experimentales de la infección por EEV. Los ensayos in vivo f...

  20. Selected proteins of "prostasome-like particles" from epididymal cauda fluid are transferred to epididymal caput spermatozoa in bull. (United States)

    Frenette, Gilles; Lessard, Carl; Sullivan, Robert


    During epididymal transit, spermatozoa acquire selected proteins secreted by epithelial cells. We recently showed that P25b, a protein with predictive properties for bull fertility, is transferred from prostasome-like particles present in the cauda epididymal fluid (PLPCd) to the sperm surface. To further characterize the interactions between PLPCd and epididymal spermatozoa, PLPCd were prepared by ultracentrifugation of bull epididymal fluid, then surface-exposed proteins were biotinylated and coincubated in different conditions with caput epididymal spermatozoa. Western blot analysis revealed that only selected proteins are transferred from PLPCd to spermatozoa. MALDI-TOF analysis revealed that these transferred proteins are closely related. The pattern of distribution of the PLPCd transferred varied from one sperm cell to the other, with a bias toward the acrosomal cap. This transfer appeared to be temperature sensitive, being more efficient at 32-37 degrees C than at 22 degrees C. Transfer of PLPCd proteins to spermatozoa was also pH dependant, the optimal pH for transfer being 6.0-6.5. The effect of divalent cations on PLPCd protein transfer to caput spermatozoa was investigated. Whereas Mg(2+) and Ca(2+) have no effect on the amount of proteins remaining associated with spermatozoa following coincubation, Zn(2+) had a beneficial effect. These results are discussed with regard to the function of PLPCd in epididymal sperm maturation.





    Las partículas no replicativas derivadas del virus de la encefalitis equina venezolana (VRPs) actúan como adyuvante sistémicos, celulares y de mucosa cuando son inyectadas conjuntamente con un antígeno, mostrando resultados prometedores para ser utilizadas en nuevas vacunas para el uso en humanos. En este trabajo se demostró que las VRPs son efectivas a bajas dosis y luego de ser inyectadas intramuscularmente, dos características sumamente importantes para un adyuvante...

  2. 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


    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

  3. Análise de Estruturas Morfológicas da Cauda de Plasma do Cometa P/Halley (United States)

    Voelzke, M. R.; Matsuura, O. T.


    531 imagens contidas no The International Halley Watch Atlas of Large-Scale Phenomena (Brandt et al., 1992) cobrindo o período de setembro de 1985 a julho de 1986 foram analisadas visando identificar, caracterizar as propriedades e correlacionar estruturas morfológicas da cauda de plasma do cometa P/Halley. A análise revelou 151 estruturas ondulatórias, 146 ondas solitárias (sólitons), 12 caudas do tipo Swan (Hyder et al., 1974; Niedner & Brandt, 1980; Jockers, 1985), 47 eventos de desconexão (D.E.'s) (Niedner & Brandt, 1979; Jockers, 1985; Celnik et al., 1988; Delva et al., 1991) e 23 regiões de adensamento ("knots") (Matsuura & Voelzke, 1990; Voelzke, 1996). - feita uma análise comparativa com outros trabalhos similares objetivando disciplinar a nomenclatura das estruturas morfológicas e a sua classificação. As estruturas ondulatórias correspondem a ondulaçóes ou trens de onda, enquanto que os sólitons referem-se a estruturas morfológicas usualmente denominadas "kinks" (Tomita et al., 1987). O valor médio do comprimento de onda, corrigido dos efeitos de projeção, Lc medido em 16 estruturas ondulatórias distintas corresponde a (2,2 +- 0,2) x 10^6 km. O valor médio da velocidade de fase cometocêntrica, corrigida dos efeitos de projeção, Vfc é igual a (114 +- 31) km/s e a amplitude média A da onda corresponde a (2,8 +- 0,5) x 10^5 km. Lc e A tendem a aumentar com o incremento da distància cometocêntrica. As ondas são claramente não-lineares e é discutido o local de sua excitação. A distribuição dos D.E.'s na distància heliocêntrica apresenta um caráter bimodal possivelmente associado com a distribuição espacial das fronteiras de setor magnético do meio interplanetário. Em geral, pode-se associar a ocorrência de um "knot" e/ou de uma cauda do tipo Swan com a ocorrência de um D.E., mas este último pode ocorrer independentemente. Os 47 D.E.'s em diferentes fases de evolução foram fotografados em 47 imagens distintas que

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

    Directory of Open Access Journals (Sweden)

    Etezadi F


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

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

    Directory of Open Access Journals (Sweden)

    Nancy E Epstein


    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.

  6. Adolescence spinal epidural abscess with neurological symptoms: case report, a lesson to be re-learnt. (United States)

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


    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 in a 15 year old boy. We treated this case successfully with surgical microscopic decompression and drainage.

  7. 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


    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.

  8. 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


    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.

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

    Directory of Open Access Journals (Sweden)

    Sharath Kumar Maila


    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

  10. Community-acquired Serratia marcescens spinal epidural abscess in a patient without risk factors: Case report and review. (United States)

    Parkins, Michael D; Gregson, Daniel B


    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.

  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


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

    Directory of Open Access Journals (Sweden)

    S. Albayram


    the region of the cauda equina, and Rabin et al (4 described another case of intracranial hypotension with prominent flow voids within the ventral epidural space near the midline of the upper thoracic spine adjacent to a ventral extradural fluid collection. Treatment of intracranial hypotension varies, depending on its origin and type. If intracranial hypotension is the result of a shunt procedure or surgery, then treatment is usually surgical. Spontaneous intracranial hypotension is often treated first with conservative management, and if this is not effective, an epidural blood patch is used. Surgical correction may be required when all other measures have failed, especially if a dural tear or other meningeal defect has been demonstrated. In addition to the correction of meningeal defects, surgical drainage of subdural hematomas, a frequent complication of ICH, also may be necessary.

  13. Sperm-egg interaction and functional assessment of springbok, impala and blesbok cauda epididymal spermatozoa using a domestic cattle in vitro fertilization system. (United States)

    Chatiza, F P; Bartels, P; Nedambale, T L; Wagenaar, G M


    The study assesses the possibility to estimate the potential fertility of post-thawed antelope (Antidorcas marsupialis), impala (Aepyceros melampus) and blesbok (Damaliscus dorcus phillipsi) epididymal sperm using homologous and heterologous IVF and the functioning of cattle IVF system to produce antelope embryos. Cauda epididymal sperm were collected from the antelope and cryopreserved under field conditions. In vitro matured domestic cow, blesbok and springbok oocytes were co-incubated in modified-Tyrode Lactate (m-TL) IVF media with springbok, impala and blesbok sperm for heterologous IVF and springbok and blesbok sperm for homologous IVF. A group of presumptive zygotes from each treatment were examined for sperm penetration and male pronuclear formation after 18h and the remainder were cultured and evaluated for embryo cleavage 22h later. The study shows that Modified Tyrode Lactate in vitro fertilization media supports survivability, capacitation and hyperactivation of springbok, impala and blesbok sperm. Springbok, impala and blesbok post-thawed epididymal spermatozoa are capable of fertilizing domestic cow oocytes under conditions that support domestic cattle IVF. Penetration, male pronuclear formation and embryo cleavage did not differ (p>0.05) between cow oocytes inseminated with sperm from springbok, impala or blesbok however these parameters were higher (psperm. Modified Tyrode Lactate IVF media supported homologous fertilization and embryo development in springbok and blesbok however did not support blastocyst development. These findings suggest that cattle provide a useful model for evaluating springbok, impala and blesbok post-thawed cauda epididymal sperm functionality. Domestic cattle embryo culture conditions need to be modified to promote blastosyst development in these antelope species. Such research provides an important tool in assisted reproductive technology development when high biological value material is utilized for wild species recovery

  14. Spinal Stenosis (United States)

    ... lower part of the body. It resembles a “horse’s tail” ( cauda equina in Latin). What Causes Spinal ... of the spine fails, it usually places increased stress on other parts of the spine. For example, ...

  15. 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


    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

  16. Is boldness a resource-holding potential trait? Fighting prowess and changes in startle response in the sea anemone, Actinia equina. (United States)

    Rudin, Fabian S; Briffa, Mark


    Contest theory predicts the evolution of a stable mixture of different strategies for fighting. Here, we investigate the possibility that stable between-individual differences in startle-response durations influence fighting ability or 'resource-holding potential' (RHP) in the beadlet sea anemone, Actinia equina. Both winners and losers showed significant repeatability of pre-fight startle-response durations but mean pre-fight startle-response durations were greater for eventual losers than for eventual winners, indicating that RHP varies with boldness. In particular, individuals with short startle responses inflicted more attacks on their opponent. Both repeatability and mean-level responses were changed by the experience of fighting, and these changes varied with outcome. In losers, repeatability was disrupted to a greater extent and the mean startle-response durations were subject to a greater increase than in winners. Thus, following a fight, this behavioural correlate of RHP behaves in a way similar to post-fight changes in physiological status, which can also vary between winners and losers. Understanding the links between aggression and boldness therefore has the potential to enhance our understanding of both the evolution of animal personality and the 'winner and loser effects' of post-fight changes in RHP.





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

  18. A retrospective study on equine herpesvirus type-1 associated myeloencephalopathy in France (2008-2011). (United States)

    van Galen, Gaby; Leblond, Agnes; Tritz, Pierre; Martinelle, Ludovic; Pronost, Stéphane; Saegerman, Claude


    Diagnosis of equine herpesvirus-1 associated myeloencephalopathy (EHM) can be troublesome, but early recognition and knowledge of risk factors are essential for prevention and control. The objectives for this study are to (1) describe EHM in France, (2) improve clinical recognition, (3) identify risk factors. Through epidemiosurveillance of acute neurological cases (all considered to be potentially infectious cases) in France (2008-2011), 26 EHM cases were identified and 29 EHM negative control cases. EHM cases were described and compared to controls with univariate, multivariate and classification and regression tree analysis. EHM cases had a 46% fatality rate and were frequently isolated cases. Most showed ataxia, paresis and a cauda equina syndrome, yet presence of other neurological signs was variable. Statistical analysis identified the following variables to be significantly associated to EHM compared to controls: introduction of a new horse to the herd, cauda equina syndrome, larger herd size, saddle horses and month of occurrence. The presence of many isolated cases, and less typical and variable clinical presentations emphasize the difficulty in diagnosing EHM. Nevertheless, history and clinical examination of acute neurological cases can be valuable in recognizing EHM early as well in order to select those cases that need further laboratory testing and infection control measures. Moreover, with a different study format and geographic location, risk factors were found to be similar to previous studies, therefore strengthening their significance to the spread of EHM.

  19. [Critical study of radiculomedullary and neuromuscular complications of ankylosing spondylitis]. (United States)

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


    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.

  20. Dumping Syndrome (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  1. Serotonin syndrome (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

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

    Directory of Open Access Journals (Sweden)

    Saeed Bin Ayaz


    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

  3. Seatbelt syndrome associated with an isolated rectal injury: case report. (United States)

    Hefny, Ashraf F; Al-Ashaal, Yousef I; Bani-Hashem, Ahmed M; Abu-Zidan, Fikri M


    Seatbelt syndrome is defined as a seatbelt sign associated with a lumbar spine fracture and a bowel perforation. An isolated rectal perforation due to seatbelt syndrome is extremely rare. There is only one case reported in the Danish literature and non in the English literature. A 48-year old front seat restrained passenger was involved in a head-on collision. He had lower abdominal pain and back pain. Seatbelt mark was seen across the lower abdomen. Initial trauma CT scan was normal except for a burst fracture of L5 vertebra which was operated on by internal fixation on the same day. The patient continued to have abdominal pain. A repeated abdominal CT scan on the third day has shown free intraperitoneal air. Laparotomy has revealed a perforation of the proximal part of the rectum below the recto sigmoid junction. Hartmann's procedure was performed. The abdomen was left open. Gradual closure of the abdominal fascia over a period of two weeks was performed. Postoperatively, the patient had temporary urinary retention due to quada equina injury which resolved 10 months after surgery. The presence of a seatbelt sign and a lumbar fracture should raise the possibility of a bowel injury.

  4. Seatbelt syndrome associated with an isolated rectal injury: case report

    Directory of Open Access Journals (Sweden)

    Bani-Hashem Ahmed M


    Full Text Available Abstract Seatbelt syndrome is defined as a seatbelt sign associated with a lumbar spine fracture and a bowel perforation. An isolated rectal perforation due to seatbelt syndrome is extremely rare. There is only one case reported in the Danish literature and non in the English literature. A 48-year old front seat restrained passenger was involved in a head-on collision. He had lower abdominal pain and back pain. Seatbelt mark was seen across the lower abdomen. Initial trauma CT scan was normal except for a burst fracture of L5 vertebra which was operated on by internal fixation on the same day. The patient continued to have abdominal pain. A repeated abdominal CT scan on the third day has shown free intraperitoneal air. Laparotomy has revealed a perforation of the proximal part of the rectum below the recto sigmoid junction. Hartmann's procedure was performed. The abdomen was left open. Gradual closure of the abdominal fascia over a period of two weeks was performed. Postoperatively, the patient had temporary urinary retention due to quada equina injury which resolved 10 months after surgery. The presence of a seatbelt sign and a lumbar fracture should raise the possibility of a bowel injury.

  5. Neurogenic Shock Immediately following Posterior Lumbar Interbody Fusion: Report of Two Cases. (United States)

    Matsumoto, Tomiya; Okuda, Shinya; Haku, Takamitsu; Maeda, Kazuya; Maeno, Takafumi; Yamashita, Tomoya; Yamasaki, Ryoji; Kuratsu, Shigeyuki; Iwasaki, Motoki


    Study Design Case report. Objective To present two cases of neurogenic shock that occurred immediately following posterior lumbar interbody fusion (PLIF) and that appeared to have been caused by the vasovagal reflex after dural injury and incarceration of the cauda equina. Case Report We present two cases of neurogenic shock that occurred immediately following PLIF. One patient had bradycardia, and the other developed cardiac arrest just after closing the surgical incision and opening the drainage tube. Cardiopulmonary resuscitation was performed immediately, and the patients recovered successfully, but they showed severe motor loss after awakening. The results of laboratory data, chest X-ray, electrocardiogram, computed tomography, and echocardiography ruled out pulmonary embolism, hemorrhagic shock, and cardiogenic shock. Although the reasons for the postoperative shock were obscure, reoperation was performed to explore the cause of paralysis. At reoperation, a cerebrospinal fluid collection and the incarceration of multiple cauda equina rootlets through a small dural tear were observed. The incarcerated cauda equina rootlets were reduced, and the dural defect was closed. In both cases, the reoperation was uneventful. From the intraoperative findings at reoperation, it was thought that the pathology was neurogenic shock via the vasovagal reflex. Conclusion Incarceration of multiple cauda equina rootlets following the accidental dural tear by suction drainage caused a sudden decrease of cerebrospinal fluid pressure and traction of the cauda equina, which may have led to the vasovagal reflex.

  6. Marfan Syndrome (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, ...

  7. Metabolic Syndrome (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  8. Williams syndrome (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  9. Tarlov cyst: Case report and review of literature. (United States)

    Prashad, Bhagwat; Jain, Anil K; Dhammi, Ish K


    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. Tarlov cyst: Case report and review of literature

    Directory of Open Access Journals (Sweden)

    Prashad Bhagwat


    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.

  11. 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


    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.

  12. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P


    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  13. Relación entre variables morfométricas en canales de la raza equina “Cavall pirinenc català” - Relationships between morphometric values in “Cavall pirinenc català” equine breed carcasses

    Directory of Open Access Journals (Sweden)

    Parés i Casanova, Pere-Miquel.


    Full Text Available ResumenSe analizaron 27 canales de potro (19 machos y 8 hembras de la raza“Cavall Pirinenc Català”. Las variables obtenidas fueron la anchura depecho y de cadera, la longitud de canal y el peso de la canal caliente, que arrojaron unos coeficientes de variación de 1,2 a 11,3%. La anchura de la cadera y la longitud de la canal presentaron una distribución no normal. Las medidas lineales de la anchura de pecho mostraron una correlación positiva baja con el peso de la cana(r=0,476. Este trabajo muestra que deben elegirse otras variablesmorfométricas para la predicción de cortes valiosos en canales equinas.SummaryA test is conducted with 27 young horses (19 males and 8 femalesbelonging to “Cavall Pirinenc Català” breed. Chest and hip width,carcass length and hot carcass weight exhibit variation coefficients that ranged from 1.2 to 11.3 percent. Hip width and carcass length has no normal distribution. Linear measurements of chest width has a low, positive relationship with hot carcass weight (r=0.476. This study shows that other morphometric traits must be used for predictingvaluable cuts in equine carcasses.

  14. 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


    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.

  15. Superficial siderosis of the central nervous system secondary to spinal ependymoma. (United States)

    Pikis, Stylianos; Cohen, José E; Vargas, Andres A; Gomori, J Moshe; Harnof, Sagi; Itshayek, Eyal


    Superficial siderosis of the central nervous system is a syndrome caused by deposition of hemosiderin in the subpial layers of the central nervous system, occurring as a result of recurrent asymptomatic or symptomatic bleeding into the subarachnoid space. We report a rare case of superficial siderosis in a 33-year-old man who presented with sensorineural hearing loss. The diagnosis of superficial siderosis on MRI brain studies led to further investigations with detection of a spinal ependymoma at L1-L2, compressing the cauda equina. Gross total resection of the tumor arrested the progression of the neurological deterioration. Our report underlies the importance of early diagnosis and surgical management, with imaging examination of the full neuroaxis to identify the source of bleeding, to halt disease progression and improve prognosis.

  16. Tubercular spinal epidural abscess involving the dorsal-lumbar-sacral region without osseous involvement. (United States)

    Arora, Sumit; Kumar, Ramesh


    Musculoskeletal tuberculosis is known for its ability to present in various forms and guises at different sites. Tubercular spinal epidural abscess (SEA) is an uncommon infectious entity. Its presence without associated osseous involvement may be considered an extremely rare scenario. We present a rare case of tubercular SEA in an immune-competent 35-year-old male patient. The patient presented with acute cauda equina syndrome and was shown to have multisegmental SEA extending from D5 to S2 vertebral level without any evidence of vertebral involvement on MRI. The patient made an uneventful recovery following surgical decompression and antitubercular chemotherapy. The diagnosis was confirmed by histopathological demonstration of Mycobacterium tuberculosis in drained pus. Such presentation of tubercular SEA has not been reported previously in the English language based medical literature to the best of our knowledge.

  17. Anterior-to-Posterior Migration of a Lumbar Disc Sequestration: Surgical Remarks and Technical Notes about a Tailored Microsurgical Discectomy (United States)

    Frati, Alessandro; Palmieri, Mauro; Vangelista, Tommaso; Caruso, Riccardo; Salvati, Maurizio; Raco, Antonino


    Extrusion of disc material within the spinal canal complicates up to 28.6% of lumbar disc herniations. Due to the anatomical “corridors” created by the anterior midline septum and lateral membranes, relocation occurs with an anterior and anterolateral axial topography. Posterior migration is an extremely rare condition and anterior-to-posterior circumferential migration is an even rarer condition. Its radiological feature can be enigmatic and since, in more than 50% of cases, clinical onset is a hyperacute cauda equina syndrome, it may imply a difficult surgical decision in emergency settings. Surgery is the gold standard but when dealing with such huge sequestrations, standard microdiscectomy must be properly modified in order to minimize the risk of surgical trauma or traction on the nerve roots. PMID:28163949

  18. Anterior-to-Posterior Migration of a Lumbar Disc Sequestration: Surgical Remarks and Technical Notes about a Tailored Microsurgical Discectomy

    Directory of Open Access Journals (Sweden)

    Alessandro Frati


    Full Text Available Extrusion of disc material within the spinal canal complicates up to 28.6% of lumbar disc herniations. Due to the anatomical “corridors” created by the anterior midline septum and lateral membranes, relocation occurs with an anterior and anterolateral axial topography. Posterior migration is an extremely rare condition and anterior-to-posterior circumferential migration is an even rarer condition. Its radiological feature can be enigmatic and since, in more than 50% of cases, clinical onset is a hyperacute cauda equina syndrome, it may imply a difficult surgical decision in emergency settings. Surgery is the gold standard but when dealing with such huge sequestrations, standard microdiscectomy must be properly modified in order to minimize the risk of surgical trauma or traction on the nerve roots.

  19. [Synovial cysts and synovialomas of the lumbar spine. Histo-pathologic and neuro-surgical aspects apropos of 8 cases]. (United States)

    Rousseaux, P; Durot, J F; Pluot, M; Bernard, M H; Scherpereel, B; Bazin, A; Peruzzi, P; Baudrillard, J C


    Based on 8 personal cases and a 81-cases review of literature, it's authors' opinion that cystic or solid masses issued form posterior lumbar articular process and called according to the cases synovial cyst, ganglion cyst, benign synovialoma, pigmented villonodular synovitis, are a single variety of benign degeneration of soft articular tissues. The cystic or solid feature of these masses depends upon the extent of their histiocytic granulomatous proliferation. They may be asymptomatic, accompany chronic lumbar pain or cause sciatica, seldom cauda equina syndrome. In case of sciatica, clinical picture rather consists of a narrow lateral recess than a discal protrusion. CT scan is the best investigation to get a right preoperative diagnosis. Postoperative prognosis is excellent and no anatomical recurrence has been reported.

  20. Edwards' syndrome. (United States)

    Crawford, Doreen; Dearmun, Annette


    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  1. Metabolic Syndrome (United States)

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

  2. Angelman Syndrome (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  3. Lynch Syndrome (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. ...

  4. Cushing's Syndrome (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 ...

  5. Paraneoplastic Syndromes (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  6. Turner Syndrome (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 ...

  7. Dravet Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  8. Apert Syndrome. (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak


    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  9. Velocardiofacial Syndrome (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.


    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  10. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M


    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  11. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat


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

  12. Refeeding syndrome. (United States)

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


    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.

  13. [Metabolic syndrome]. (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi


    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  14. [Autoinflammatory syndrome]. (United States)

    Ida, Hiroaki; Eguchi, Katsumi


    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  15. Criterios de valoración en el diagnóstico y pronóstico de la pleuroneumonía equina. Aplicación de la curva ROC para determinación de fiabilidad diagnóstica


    Ruiz de León Robledo, María de los Ángeles


    Los procesos respiratorios en los caballos representan un problema muy importante en la clínica equina ya que provocan bajas y/o disminuciones del rendimiento tanto en caballos de uso deportivo como de otros tipos. Por ello es importante valorar de manera precisa las enfermedades que pueden provocar la muerte del paciente por la gravedad de las lesiones que generan. También es imprescindible ser capaces de emitir un pronóstico lo más acertado posible en la valoración de los procesos para dete...

  16. 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


    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.

  17. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai


    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  18. [Autoinflammatory syndromes]. (United States)

    Lamprecht, P; Gross, W L


    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  19. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul


    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

  20. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho


    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.

  1. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl


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

  2. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi


    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  3. Gorlin syndrome. (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R


    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  4. Down Syndrome: Eye Problems (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  5. Facts about Down Syndrome (United States)

    ... Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a person ... in height as children and adults Types of Down Syndrome There are three types of Down syndrome. People ...

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

    Directory of Open Access Journals (Sweden)

    Anupam Gupta


    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.

  7. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat


    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.

  8. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.


    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.

  9. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu


    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.

  10. Poland syndrome


    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.


    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.

  11. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma


    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.

  12. Myelodysplastic Syndromes (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 ...

  13. LEOPARD syndrome (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  14. Wallenberg's Syndrome (United States)

    ... way, which makes it difficult to keep their balance when they walk. Treatment Treatment for Wallenberg's syndrome is symptomatic. A feeding ... way, which makes it difficult to keep their balance when they walk. Treatment Treatment for Wallenberg's syndrome is symptomatic. A feeding ...

  15. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma


    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.

  16. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

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


    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....

  17. Injuries and Illnesses of Vietnam War POWs. 2. Army POWs (United States)


    lumbar spine at the time (If 7-739 LcrtonHa capture, cutting part of the cauda equina at the L-5 level. 83.0-731.0 LCehaaian Headace producing...All the RPWs had diarrhea in captivity, especially while additional four RPWs presented with influenza . On the held in the South. The frequency and

  18. 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)


    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.

  19. 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


    “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.

  20. Can Surgery Improve Neurological Function in Penetrating Spinal Injury? A Review of the Military and Civilian Literature and Treatment Recommendations for Military Neurosurgeons (United States)


    civilian gunshot injuries of the terminal spinal cord and cauda equina: review of 88 cases. Neurosurgery 24:392–397, 1989 10. DeMuth WE Jr: Bullet...velocity and design as determinants of wounding capability: an experimental study. J Trauma 6:222–232, 1966 11. DeMuth WE Jr: Bullet velocity as applied

  1. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra


    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  2. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H


    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


    Directory of Open Access Journals (Sweden)



    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.

  4. Hubris syndrome. (United States)

    Owen, David


    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.

  5. CLOVES syndrome. (United States)

    Bloom, Jacob; Upton, Joseph


    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  6. Investigação da participação de adrenoceptores α1A e α1D na contração da cauda de epididímo de rato e sua androgênica e estrogênica


    Kiguti, Luiz Ricardo de Almeida [UNESP


    The epididymis is the male reproductive organ responsible for sperm maturation and storage. The contraction of cauda epididymis (CE) during ejaculation is one of the first events of seminal emission phase of ejaculation and the sympathetic nervous system plays a key role in the CE contraction via α1 adrenoceptors (α1-ARs) activation. In this study we show that CE expresses α1A and α1D-ARs and both receptor subtypes contribute in a complex way to the CE contraction induced by α1-ARs agonists. ...

  7. [Autoinflammatory syndromes/fever syndromes]. (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I


    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

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

    Energy Technology Data Exchange (ETDEWEB)

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


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

  9. Noonan syndrome (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  10. Marfan syndrome (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  11. Usher Syndrome (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  12. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil


    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  13. Beals Syndrome (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  14. Isaac's Syndrome (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  15. Zellweger Syndrome (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  16. Neurocutaneous Syndromes (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  17. [Mobius syndrome]. (United States)

    Vladuţiu, Cristina; Duma, Ionela


    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.

  18. Autoinflammatory syndromes. (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A


    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  19. [Refeeding syndrome]. (United States)

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


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

  20. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie


    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  1. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne;


    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  2. Gardner Syndrome (United States)

    ... or central nervous system tumor less than 1% Stomach cancer 0.5% Bile duct cancer small, but increased Adrenal gland cancer small, but increased What are the screening options for Gardner syndrome? The screening options for ...

  3. Metabolic syndrome (United States)

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  4. Down Syndrome (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  5. Turner Syndrome (United States)

    ... in the inner layer of the aorta (aortic dissection). A defect in the valve between the heart ... Turner syndrome are at increased risk of aortic dissection during pregnancy, they should be evaluated by a ...

  6. Eagle's Syndrome


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


    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  7. SAPHO syndrome. (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D


    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  8. Carpenter syndrome. (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol


    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  9. Juvenile Polyposis Syndrome (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  10. Cardiac Syndrome X (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  11. What is Metabolic Syndrome? (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  12. Down Syndrome (For Kids) (United States)

    ... continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can't ... have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome go to regular ...

  13. Metabolic Syndrome (For Parents) (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  14. Metabolic Syndrome (For Parents) (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome Print A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  15. 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


    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

  16. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre


    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.

  17. Associação dos sistemas de recombinação em levedura e de genética reversa para a obenteção de rearranjos entre os vírus da influenza humana e equina


    Aymara Alves Correa Rangel


    O sistema de Recombinação em levedura está surgindo como uma nova tecnologia de clonagem no meio científicom, sendo está tese pioneira na introdução desta metodologia para a clonagem dos segmentos genômicos do vírus da influenza. A rapidez e a eficiencia dos procedimentos que envolvem o Sistema de Recombinação em levedura foram verificadas durante a produção dos plamideos recombinantes, contendo o cDNA dos oito segmentos genômicos do vírus da influenza equina, A/Equine/Kentucky/2/86 (H3N8). D...

  18. [Serotonin syndrome]. (United States)

    Lheureux, P; Penaloza, A; De Cottenier, V; Ullmann, U; Gris, M


    The serotonin syndrome is a hyperserotoninergic state resulting from an excess of intrasynaptic 5-hydroxytryptamine, induced by multiple psychotropic agents, but also non psychiatric drugs. It is a potentially dangerous and sometimes lethal condition. The clinical manifestations usually include cognitive, neuromuscular and autonomic features and are mediated by the action of serotonin on various subtypes of receptors. The main differential diagnosis is the neuroleptic malignant syndrome. Treatment is mainly supportive. No pharmacological agent has been definitely demonstrated really effective. However, reports of cases treated with the 5-HT2 blockers, including cyproheptadine or chlorpromazine have suggested that these agents could have some efficacy. Serotonin syndrome is a toxic condition which requires heightened clinical awareness among physicians in order to prevent, recognize, and treat the condition promptly.

  19. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe


    necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...

  20. Microcephaly syndromes. (United States)

    Abuelo, Dianne


    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.

  1. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin


    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  2. Compartment syndromes (United States)

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


    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.

  3. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata


    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.

  4. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria


    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  5. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci


    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  6. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves


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

  7. [PFAPA syndrome]. (United States)

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida


    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  8. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N


    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.

  9. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita


    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.

  10. Eisenmengers syndrom

    DEFF Research Database (Denmark)

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


    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......-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...

  11. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod


    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.

  12. [Wilkie's syndrome]. (United States)

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál


    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  13. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan


    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

  14. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf


    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.

  15. Morbihan syndrome. (United States)

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


    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).

  16. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi


    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.

  17. Pleuroneumonía Equina (Equine Pleuropneumonia

    Directory of Open Access Journals (Sweden)

    Aguilera-Tejero, Escolástico


    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. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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


    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

  19. Dumping Syndrome (United States)

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  20. Sotos Syndrome (United States)

    ... 663-4637) Sotos Syndrome Support Association P.O. Box 4626 Wheaton IL Wheaton, IL 60189 Tel: 888-246-7772 The Arc of the United States 1825 K Street, NW ...

  1. Reifenstein syndrome (United States)

    Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals ...

  2. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts


    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.

  3. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole


    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....

  4. [Waardenburg's syndrome]. (United States)

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I


    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  5. Waardenburg's syndrome. (United States)

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P


    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  6. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci


    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  7. Aicardi Syndrome (United States)

    ... such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. Typical findings in the brain of girls with Aicardi syndrome include heterotopias , which are groups of brain cells that, during development, migrated to the wrong area ...

  8. Gitelman syndrome.

    NARCIS (Netherlands)

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


    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

  9. Rett Syndrome. (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.…

  10. Chylomicronemia syndrome (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  11. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti


    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.

  12. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer


    @@ 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

  13. Troyer Syndrome (United States)

    ... atrophy of the hand muscles, developmental delays, fluctuating emotions, and short stature. Onset is typically in early childhood, and symptoms gradually worsen over time. Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene ...

  14. Caplan syndrome (United States)

    ... CT scan of the chest Joint x-rays Pulmonary function tests Rheumatoid factor test and other blood tests Treatment There is no specific treatment for Caplan syndrome, other than treating any lung and joint disease. ... MD, MHS, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, ...

  15. Brugada Syndrome (United States)

    ... to look at your heart's electrical activity (electrophysiology study), you'll need to fast for eight to 12 hours before your test. Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome. Write down key personal information, especially any family ...

  16. [SAPHO syndrome]. (United States)

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J


    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  17. Bloom syndrome. (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan


    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

  18. Compartment syndromes

    Institute of Scientific and Technical Information of China (English)

    Aly Saber


    Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss.Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes.Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma.As the intracranial contents are confined within a rigid bony cage, any increase in volume within thiscompartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume.Limb compartment syndromes may present either in acute or chronic clinical forms.Intra-abdominal pressure can be measured by direct or indirect methods.While the direct methods are quite accurate, theyare impractical and not feasible for routine practice.Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder.Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement.The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  19. Short Bowel Syndrome (United States)

    ... System & How it Works Digestive Diseases A-Z Short Bowel Syndrome What is Short Bowel Syndrome Short bowel syndrome is a group of problems ... between the stomach and large intestine. What causes Short Bowel Syndrome? The main cause of short bowel syndrome is ...

  20. Fluency Disorders in Genetic Syndromes (United States)

    Van Borsel, John; Tetnowski, John A.


    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. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès


    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  2. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma


    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  3. Parinaud's syndrome. (United States)

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z


    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  4. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.


    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.

  5. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe


    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...... necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...

  6. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T


    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.

  7. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta


    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.

  8. Postconcussional Syndrome


    Necla Keskin; Lut Tamam


    Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral) symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method f...

  9. Fraser syndrome.

    Directory of Open Access Journals (Sweden)

    Chattopadhyay A


    Full Text Available Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

  10. [Fibromyalgia syndrome]. (United States)

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


    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.

  11. Gerstmann's syndrome.


    Sukumar, S.; Ferguson, G C


    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.

  12. Neonatal respiratory distress syndrome (United States)

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

  13. What Causes Down Syndrome? (United States)

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  14. Genetic obesity syndromes. (United States)

    Goldstone, Anthony P; Beales, Philip L


    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  15. Blind Loop Syndrome (United States)

    ... more commonly result from other conditions such as short bowel syndrome or chronic pancreatitis. Small intestine aspirate and fluid ... people with severe blind loop syndrome resulting in short bowel syndrome. References Townsend CM Jr, et al. Sabiston Textbook ...

  16. Asperger Syndrome (For Parents) (United States)

    ... Old Feeding Your 1- to 2-Year-Old Asperger Syndrome KidsHealth > For Parents > Asperger Syndrome Print A A ... the medical community still use the term. About Asperger Syndrome The disorder is named after Hans Asperger, a ...

  17. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.


    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. Kartagener syndrome

    Directory of Open Access Journals (Sweden)

    Nedaa Skeik


    Full Text Available Nedaa Skeik1–3, Fadi I Jabr41Mayo Clinic, Rochester, MN, USA; 2Dartmouth Medical School, Hannover, NH, USA; 3New York Medical College, New York, NY, USA; 4Horizon Medical Center, Hospital Medicine, Dickson, TN, USAAbstract: Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.Keywords: chronic obstructive pulmonary disease, bronchiectasis, immotile cilia syndrome, situs inversus

  19. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo


    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  20. Carpal Tunnel Syndrome (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  1. Inherited ichthyosis: Syndromic forms. (United States)

    Yoneda, Kozo


    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.

  2. Raynaud's syndrome and carpal tunnel syndrome.


    Waller, D G; Dathan, J R


    We report three cases of Raynaud's syndrome with digital ischaemic ulceration, in association with carpal tunnel syndrome. In all cases, the aetiology of the Raynaud's syndrome was probably unrelated to the nerve compression. However, symptoms were worse on the side of the median nerve lesion in two patients and worse on the side with the most severe nerve dysfunction in the third; symptoms were relieved by carpal tunnel decompression in two patients. We suggest that carpal tunnel syndrome ma...

  3. Morvan Syndrome (United States)

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


    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

  4. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata


    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.


    Institute of Scientific and Technical Information of China (English)


    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.

  6. Jacobsen syndrome. (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul


    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 approximately 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 very severe

  7. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar


    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  8. Chilaiditi syndrome. (United States)

    Walsh, S D; Cruikshank, J G


    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  9. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.


    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  10. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM


    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  11. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C


    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.

  12. Refeeding syndrome. (United States)

    Fuentebella, Judy; Kerner, John A


    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.

  13. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul


    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

  14. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli


    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.

  15. Down Syndrome (For Parents) (United States)

    ... en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a ... rises to about 1 in 100. continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

  16. Sheehan's syndrome. (United States)

    Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah


    Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The first most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.

  17. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie


    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 (

  18. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco


    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.

  19. Klinefelter syndrome. (United States)

    Smyth, C M; Bremner, W J


    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  20. [Extra-articular manifestations of seronegative spondylarthritis]. (United States)

    Cammelli, Daniele


    Seronegative spondylarthritis are frequently characterised by extra-articular manifestations. They are frequently in recurrent uveitis. Between the cutaneous manifestations should be mentioned erythema nodosum, typical of inflammatory bowel diseases, and keratoderma blenorrhagicum, in the Reiter's syndrome. Cardiac complications in ankylosing spondylitis (AS) include aortic valvular regurgitation and arrhythmia and, more rarely, mitral valvulopathy, cardiomyopathy and pericarditis. Pulmonary involvement in AS includes ventilatory restrictive syndrome and fibro-bullous disease of the apex. Vertebral osteoporosis is a very important extra-articular manifestation because of the possibility of spontaneous fractures of the vertebrae. Central neurological manifestations include medullary compression from cervical sub-luxation while the most important peripheral involvements are lumbar stenosis and the cauda equina syndrome. Type AA amyloidosis is a rare late complication of the AS, possible cause of death especially in patients with aggressive disease. Kidney complications can be observed as consequences of prolonged anti-inflammatory therapy, but the most frequent renal complications are amyloidosis and mesangial IgA segmental and focal glomerulonephritis.

  1. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno


    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

  2. Metabolic Syndrome: Polycystic Ovary Syndrome. (United States)

    Mortada, Rami; Williams, Tracy


    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.

  3. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Giuseppe Civardi


    Full Text Available Background: The last few years have seen a complete change in the etiopathogenetic features, classification and therapeutic approach of the hypereosinophilic syndrome (HES, a multiorgan targeted blood disease. The discovery of a genetic mutation and the occurrence of a new fusion gene, named FIP1L1-PDGFRA (FIP gene, in some patients allowed the identification of a new myeloproliferative disorder, M-HES: thereafter, the pivotal therapeutic role of the tyrosine kinase inhibitors, particularly, imatinib mesylate, was clearly detected. In the same period a new pathogenetic mechanism has been detected: some authors described the presence of a CD3-CD4 +Tcell clone correlating with the overproduction of IL5, a potent eosinophilic cell line stimulating cytokine. As a consequence an international consensus committee proposed a new classification for these syndromes, in accordance with these new pathogenetic features. The disease is characterized by an extensive tissue and organ damage due to an eosinophilic cell infiltration and leading to the release of toxic cytokines and subsequent organ dysfunction. The heart, lungs, gastrointestinal apparatus, skin and central nervous system are affected. Moreover the released cytokines can induce a thrombophilic status and thromboembolic events can occur throughout the body. Aim of the study: We describe the diagnostic procedures that are necessary in order to obtain a correct diagnosis and classification of the disease and to evaluate the presence of an organ and tissue damage. In particular, bone marrow biopsy and cytogenetic examination of blood and marrow are necessary for detecting M-HES cases that are positive for the FIP gene. In these patients, imatinib mesylate has a leading role for obtaining complete remission of the disease in a high percentage of cases. We also examine the therapeutic options for the other forms of the disease: prednisone, interferon, hydroxiurea are effective therapeutic tools in

  4. 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


    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.

  5. 角蛋白表达阳性的马尾节细胞性副神经节瘤伴脊柱裂:病例报告并文献复习%Cauda equine ganglioneuromatous paraganglioma with positive cytokeratin and occult cleft spine: a case report and review of the literatures

    Institute of Scientific and Technical Information of China (English)

    林晓燕; 宋英华; 王家耀


    目的 探讨马尾副神经节瘤的临床表现及病理学特征.方法 报告1例临床罕见伴节细胞神经瘤分化的马尾副神经节瘤病例,分析其临床表现、组织病理学特点,并复习相关文献.结果 患者男性,47岁,临床表现为右足底麻木并渐进性双下肢麻木.MRI检查显示L4~S1椎管内占位性病变.术中可见S1节段硬脊膜部分缺损未闭合,硬脊膜受压,肿瘤约5 cm×3 cm×3cm大小,位于神经根,形状不规则,血运丰富,压迫马尾囊及神经根.组织形态学观察肿瘤由副神经节瘤和节细胞神经瘤组成,副神经节瘤为实性细胞巢结构,细胞呈器官样排列,部分为实性片状、癌巢样或条索样、假“菊形”团样、血管外皮瘤样及乳头状排列;节细胞神经瘤可见典型节细胞,背景为神经纤维、许旺细胞等,形成节细胞神经瘤图像,两种成分单独或混杂存在.免疫组织化学染色巢状成分的肿瘤细胞胞质表达广谱细胞角蛋白,以及α-突触核蛋白和嗜铬素A,肿瘤细胞巢周围胞质可见表达S-100蛋白的支持细胞,Ki-67抗原标记指数<5%;节细胞成分表达α-突触核蛋白、神经元特异性烯醇化酶,并不同程度表达细胞角蛋白,但不表达神经元核抗原.结论 该例患者肿瘤组织中伴有节细胞神经瘤成分,含有多种组织学和细胞学形态,伴骶椎隐裂,临床罕见.细胞角蛋白表达阳性可能是马尾副神经节瘤不同于其他部位副神经节瘤的重要病理学特点之一.%Objective To investigate the clinical manifestations and pathological features of paraganglioma of cauda equine. Methods The clinical manifestations, histopathology and immunophenotype features were studied in one rare case of cauda equine paraganglioma with ganglioneuroma differentiation, positive cytokeratin (CK) and bifid occult spine. Related literatures were reviewed. Results The patient was a 47-year-old male. Numbness of the right sole lasted for

  6. ADHD and genetic syndromes. (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo


    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  7. First Trimester Down Syndrome Screen (United States)

    ... disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The first trimester screen is one ... chromosome material that results in Down syndrome or Edwards syndrome , the levels of PAPP-A tend to be ...

  8. Prenatal Tests for Down Syndrome (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  9. Genetics Home Reference: Werner syndrome (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  10. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha


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

  11. Angelman Syndrome. (United States)

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M


    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found.

  12. Sheehan's Syndrome (Postpartum Hypopituitarism) (United States)

    Sheehan's syndrome Overview By Mayo Clinic Staff Sheehan's syndrome is a condition that affects women who lose a life-threatening amount of blood in childbirth or who have severe low blood pressure ...

  13. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

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


    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

  14. Milk-alkali syndrome (United States)

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

  15. Diabetic hyperglycemic hyperosmolar syndrome (United States)

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

  16. Acute respiratory distress syndrome (United States)

    ... page: // Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that ...

  17. Restless Legs Syndrome Foundation (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 ...

  18. What Is Marfan Syndrome? (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 ...

  19. Kleine-Levin Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  20. Locked-In Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  1. Holmes-Adie Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  2. Central Cord Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  3. Lennox-Gastaut Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  4. Tics and Tourette Syndrome (United States)

    ... Children who have Tourette syndrome may also have learning disabilities or obsessive-compulsive disorder (thoughts or behaviors that ... my child who has tourette syndrome, involuntary movement, learning disabilities, learning disability, movement disorders, obsessive thoughts, obsessive-compulsive ...

  5. Organic brain syndrome (United States)

    ... state Intoxication from drug or alcohol use Wernicke-Korsakoff syndrome (a long-term effect of excessive alcohol consumption ... Substance use Transient ischemic attack Vascular dementia Wernicke-Korsakoff syndrome Review Date 2/27/2016 Updated by: Amit ...

  6. Hyperimmunoglobulin E syndrome (United States)

    ... page: // Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  7. Premenstrual Syndrome (PMS) FAQ (United States)

    ... syndrome irritable bowel syndrome thyroid disease Depression and anxiety disorders are the most common conditions that overlap with PMS. About one half of women seeking treatment for PMS have one of these ...

  8. What Is Down Syndrome? (United States)

    ... Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% ... are nearly 100% accurate in diagnosing Down syndrome. Amniocentesis is usually performed in the second trimester between ...

  9. Barth Syndrome (BTHS) (United States)

    ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ...

  10. Hyperventilation and exhaustion syndrome


    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta


    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification - F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed ...

  11. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha


    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. Williams Syndrome and Happiness. (United States)

    Levine, Karen; Wharton, Robert


    Discussion of Williams syndrome, a genetic disorder with a variety of medical and developmental features, focuses on frequent outward expression of happiness. Analysis of the unique expression of happiness in individuals with Williams syndrome is followed by discussion of this happiness in the context of other dimensions of the syndrome,…

  13. Anisocoria and Horner's Syndrome (United States)

    ... Asked Questions Español Condiciones Chinese Conditions Anisocoria and Horner's Syndrome En Español Read in Chinese What is ... the affected eye. What are the signs of Horner’s syndrome? In Horner’s syndrome, the pupil in the ...

  14. [Neurotoxicity of intrathecal lidocaine]. (United States)

    Pavón, A; Anadón Senac, P


    Lidocaine is a local anesthetic belonging to the amide group and has been administered intrathecally for over 40 years. Although no serious complications had been attributed to lidocaine before the 1990s, subarachnoid administration is now the subject of controversy following its implication in numerous cases of neurological complication. The clinical pictures described in the literature are cauda equina syndrome, which is mainly associated with continuous subarachnoid anesthesia through microcatheters, and transitory neurological symptoms, also termed radicular irritation syndrome and associated with single injections. The literature reveals a clearly higher incidence of transitory neurological symptoms with lidocaine than with other local anesthetics. Although the underlying mechanism remains unclear, the main hypotheses being the neurotoxicity of lidocaine itself or the malpositioning of the paravertebral musculature due to extreme relaxation. The various factors that can lead to neuropathy have been widely described in the many articles reporting complications. Arthroscopy and lithotomy positions are significantly related to the appearance of symptoms, as are early ambulation or the use of small-gauge needles or pencil-point needles. Further clinical studies should be undertaken. No consensus on subarachnoid administration of lidocaine has emerged, yet no alternative has been demonstrated to be safe and to offer similar pharmacological features (short latency, short duration of action and good muscle relaxation). Prilocaine, mepivacaine, articaine and bupivacaine at low doses have been suggested as alternatives.

  15. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome). (United States)

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


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

  16. Spinal primitive neuroectodermal tumor mimicking as chronic inflammatory demyelination polyneuropathy: a case report and review of literature. (United States)

    Chan, Sophelia H S; Tsang, Dickson S F; Wong, Virginia C N; Chan, Godfrey C F


    We report a young boy who presented with progressive weakness of lower extremities associated with areflexia and abnormal electrophysiological findings initially suggestive of chronic inflammatory demyelinating polyneuropathy. Initial lumbosacral spinal magnetic resonance imaging (MRI) showed thickened descending spinal nerve roots only. Immunomodulating therapy was given but with limited clinical response. Repeated spine magnetic resonance imaging showed cauda equina and also new spinal cord extramedullary contrast enhancement. The initial extensive investigations including open biopsy did not point to any specific diagnosis. Only through pursuing a repeated biopsy, the diagnosis of the spinal peripheral primitive neuroectodermal tumor was confirmed. This case highlights the diagnostic challenges of the spinal peripheral primitive neuroectodermal tumor that could have an initial chronic inflammatory demyelinating polyneuropathy-like presentation. The literature review confirms that this is a rare condition and cauda equina origin has only been reported in adults and teenagers, and this is the first reported case in a young child.

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

    Energy Technology Data Exchange (ETDEWEB)

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


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

  18. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian


    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. [Postpartum endocrine syndrome]. (United States)

    Ducarme, G; Châtel, P; Luton, D


    Postpartum endocrine syndromes occur in the year after delivery. They are due to immunologic and vascular modifications during pregnancy. The Sheehan syndrome is the first described postpartum endocrine syndrome and consists on a hypophyse necrosis in relation with a hypovolemic shock during delivery. The immunologic consequences of the pregnancy are the most frequent, sometimes discrete and transitory. The physiological evolution of the endocrine glands during pregnancy and the most frequent post-partum endocrine syndromes are discussed: postpartum lymphocytic hypophysitis, thyroiditis and Sheehan' syndrome.

  20. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar


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

  1. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN


    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

  2. Behcet's Syndrome. (United States)

    Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf


    Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).α inhibitors

  3. [Epidemiology of Asperger's syndrome]. (United States)

    Suzuki, Yukiko; Saito, Kazuhiko


    Only a little data is available so far on the prevalence of Asperger's syndrome. The prevalence that Fombonne (2003) estimated after considering six European research was 2/10,000. In Ishikawa's study (2006) conducted in Nagoya city, Japan, the prevalence of Asperger's syndrome was 56/10,000. Currently there are not strict diagnostic criteria of Asperger's syndrome and methods of investigation are not consistent in each study. Therefore the prevalence rate for Asperger's syndrome covered very wide range. Although we still don't have a precise prevalence data on Asperger's syndrome, the awareness of this syndrome emerged in these several decades tells us that further research and support for the children of Asperger's syndrome and their family are necessary.

  4. 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)


    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).

  5. Functional neurologic recovery in two dogs diagnosed with severe


    Mônica Vicky Bahr Arias; Daniela Scapini Mendes; Nazilton de Paula Reis Filho


    Traumatic injuries to the vertebral column, spinal cord, and cauda equina nerve roots occur frequently in human and veterinary medicine and lead to devastating consequences. Complications include partial or complete loss of motor, sensory, and visceral functions, which are among the main causes of euthanasia in dogs. The present case report describes neurological functional recovery in two dogs that were treated surgically for severe spinal fracture and vertebral luxation. In the first case, ...

  6. Changes in spinal cord excitability in a patient with rhythmic segmental myoclonus.


    Di Lazzaro, V; Restuccia, D; Nardone, R; Oliviero, A; P. Profice; Insola, A.; TONALI, P.; J. C. Rothwell


    Paired stimulation of the common peroneal and posterior tibial nerve was used to study the recovery cycle of lumbosacral somatosensory evoked potentials in 10 control subjects and in one patient with rhythmic segmental myoclonus of the leg involving the L2-L4 myotomes. In normal subjects the peripheral nerve volley in the cauda equina had recovered at an interstimulus interval of 3 ms whereas the postsynaptic dorsal horn potential was reduced to about 60% of its control size. Similar results ...

  7. Neurogenic Shock Immediately following Posterior Lumbar Interbody Fusion: Report of Two Cases


    Matsumoto, Tomiya; Okuda, Shinya; Haku, Takamitsu; Maeda, Kazuya; Maeno, Takafumi; Yamashita, Tomoya; Yamasaki, Ryoji; Kuratsu, Shigeyuki; Iwasaki, Motoki


    Study Design Case report. Objective To present two cases of neurogenic shock that occurred immediately following posterior lumbar interbody fusion (PLIF) and that appeared to have been caused by the vasovagal reflex after dural injury and incarceration of the cauda equina. Case Report We present two cases of neurogenic shock that occurred immediately following PLIF. One patient had bradycardia, and the other developed cardiac arrest just after closing the surgical incision and opening the dra...

  8. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf


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

  9. Hérnia discal lombar Lumbar disc herniation

    Directory of Open Access Journals (Sweden)

    Luis Roberto Vialle


    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

  10. Fatores prognósticos do trauma raquimedular por projétil de arma de fogo em pacientes submetidos a laminectomia Prognostic factors related to gunshot wounds to the spine in patients submited to laminectomy

    Directory of Open Access Journals (Sweden)



    Full Text Available Os traumas sobre a coluna resultantes de projetil de arma de fogo (PAF são lesões geralmente graves e muitas vezes com baixo potencial para recuperação neurológica. A indicação cirúrgica destas lesões ainda é motivo de controvérsia. O objetivo deste artigo é identificar fatores no pré e trans-operatório que irão influenciar na recuperação neurológica destes pacientes. Realizamos estudo retrospectivo de 45 pacientes submetidos a laminectomia para trauma raquimedular por PAF, avaliando os seguintes fatores: nível da lesão, apresentação clínica, uso de glicocorticóide no pré-operatório, presença de lesão dural, momento cirúrgico e relação entre escala de Frankel pré e pós-operatória. Observamos que os fatores mais importantes para a recuperação neurológica foram o nível da lesão (53% dos pacientes com lesão lombar melhoraram após a cirurgia e a apresentação clínica pré-operatória (pacientes com síndrome de cauda equina obtiveram melhora em 60% dos casos, sendo que as demais variáveis não apresentaram significância estatística. Em 71% dos casos, a dor pré-operatória foi aliviada com o procedimento cirúrgico.The spinal trauma related to civilian gunshot missile still remains a serious neurological event that carries a dismal prognosis almost in all cases. Its surgical indication also is a mather of discution. Our goal is to identify the aspects that could influence the prognosis after surgery to this kind of lesions. We conducted a retrospective study of 45 consecutive patients submitted to laminectomy at Hospital de Base do Distrito Federal (Brasília, Brazil, testing the following aspects: initial neurological status, level of the deficit, surgical timing, use of methilprednisolone and presence of dural tearing. Among those, the initial clinical presentation and the level of the lesion (60% of the patients with cauda equina syndrome and 53% of that with lesions in the lombar region improved

  11. 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)


    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.

  12. Do you know this syndrome? Leopard syndrome* (United States)

    Cançado, Flávio Heleno da Silva Queiroz; da Silva, Luis Candido Pinto; Taitson, Paulo Franco; de Andrade, Ana Carolina Dias Viana; Pithon, Matheus Melo; Oliveira, Dauro Douglas


    Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome. PMID:28225973

  13. Basal cell nevus syndrome or Gorlin syndrome. (United States)

    Thalakoti, Srikanth; Geller, Thomas


    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial.

  14. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev


    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.

  15. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha


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

  16. SAPHO syndrome associated spondylitis. (United States)

    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi


    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy.

  17. Genetics Home Reference: Arts syndrome (United States)

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

  18. Toxic Shock Syndrome (For Teens) (United States)

    ... Surgery? A Week of Healthy Breakfasts Shyness Toxic Shock Syndrome KidsHealth > For Teens > Toxic Shock Syndrome Print ... it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's had ...

  19. Genetics Home Reference: Laron syndrome (United States)

    ... Me Understand Genetics Home Health Conditions Laron syndrome Laron syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Laron syndrome is a rare form of short stature that ...

  20. Genetics Home Reference: Klinefelter syndrome (United States)

    ... Me Understand Genetics Home Health Conditions Klinefelter syndrome Klinefelter syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Klinefelter syndrome is a chromosomal condition that affects male physical ...

  1. Genetics Home Reference: Alport syndrome (United States)

    ... Testing Registry: Alport syndrome, X-linked recessive Other Diagnosis and Management Resources (3 links) GeneReview: Alport Syndrome and Thin Basement Membrane Nephropathy MedlinePlus Encyclopedia: Alport Syndrome MedlinePlus Encyclopedia: End-Stage ...

  2. Genetics Home Reference: Asperger syndrome (United States)

    ... Me Understand Genetics Home Health Conditions Asperger syndrome Asperger syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Asperger syndrome is a disorder on the autism spectrum, which ...

  3. Genetics Home Reference: Horner syndrome (United States)

    ... Me Understand Genetics Home Health Conditions Horner syndrome Horner syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Horner syndrome is a disorder that affects the eye ...

  4. Genetics Home Reference: Cockayne syndrome (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (7 links) ...

  5. Down syndrome: An overview


    Samuel Otabor Wajuihian


    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, epidemiolo...

  6. Lamotrigine induced DRESS syndrome

    Directory of Open Access Journals (Sweden)

    Kikkeri Narayanasetty Naveen


    Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome is a rare and life-threatening delayed drug hypersensitivity reaction characterized by skin eruption, fever, lymphadenopathies, and visceral involvement. Here, we are presenting a 12 year old boy, who developed rare but life threatening DRESS syndrome due to Lamotrigine. Early detection and treatment led to his rapid recovery. This case is presented to highlight the importance of early detection of rare fatal syndrome.

  7. Alport's Syndrome in Pregnancy


    Suchita Mehta; Chadi Saifan; Marie Abdellah; Rita Choueiry; Rabih Nasr; Suzanne El-Sayegh


    Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy. Case Presentation. 20-year-old woman ...

  8. Fat embolism syndrome


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


    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...

  9. The carpenter syndrome phenotype. (United States)

    Tarhan, Erkan; Oğuz, Haldun; Safak, Mustafa Asim; Samim, Erdal


    Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory disturbances are not common among Carpenter syndrome patients. According to our knowledge, this is the first Carpenter syndrome case whose hearing loss is demonstrated by auditory brainstem response (ABR) test.

  10. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E


    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery, i...... on the coronary vessels, with cardiac tamponade and chronic pericardial exudate. In the lighter cases, PCIS may be treated with NSAID and, in the more severe cases, with systemic glucocorticoid which has a prompt effect....

  11. [Excretory azoospermia: Young's syndrome]. (United States)

    Arrufat, J M; Cervelló, E; Albella, F


    The authors present a case of excretory azoospermia, whose deferentovesiculography and surgical exploration of the epididymis were normal. The patient presented bronchio-estasis and sinusitis as a result of which he was diagnosed as suffering from Young's syndrome. The authors make a review of the current state of the problem stressing the differences between Young's syndrome and immobile cilia syndrome described by Eliasson and colls.

  12. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder


    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  13. Streptococcal toxic shock syndrome


    Gvozdenović Ljiljana; Pasternak Janko; Milovanović Stanislav; Ivanov Dejan; Milić Saša


    Introduction. Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella pre...

  14. Palmaris brevis spasm syndrome.


    SERRATRICE, G.; Azulay, J.P.; Serratrice, J; Pouget, J


    Palmaris brevis spasm syndrome is a rare and benign condition of localised muscular hyperactivity. In five men, the hypothenar eminence underwent spontaneous, irregular, tonic contractions of the palmaris brevis muscle. An EMG showed spontaneous high frequency discharges of normal motor units, without evidence of neuropathy or of nerve compression. This syndrome resembles other restricted muscle hyperactivity syndromes although there are some differences. Curiously, the palmaris brevis muscle...

  15. SAPHO syndrome associated spondylitis


    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa,Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi


    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship ...

  16. Learning about Cri du Chat Syndrome (United States)

    ... Learning About Prostate Cancer Learning About Cri du Chat Syndrome What is cri du chat syndrome? What ... cri du chat syndrome What is cri du chat syndrome? Cri du chat syndrome - also known as ...

  17. [Neurobiology of Tourette Syndrome]. (United States)

    Ünal, Dilek; Akdemir, Devrim


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

  18. [Refeeding syndrome. A review]. (United States)

    Temprano Ferreras, J L; Bretón Lesmes, I; de la Cuerda Compés, C; Camblor Alvarez, M; Zugasti Murillo, A; García Peris, P


    Refeeding syndrome is a complex clinical picture that encompass all those alterations that can occur as a consequence of the nutritional support (oral, enteral or parenteral) in malnourished patients. Refeeding syndrome is classically characterized by neurological alterations, respiratory symptoms, cardiac arrhythmias and heart failure few days after beginning of refeeding, with life-threatening outcome. Its pathogenesis includes alterations in the corporal fluids, and in some electrolytes, minerals and vitamins. In this article a review of refeeding syndrome pathogenesis and clinical manifestations is carried out, with a final series of recommendations for lowering the risk of this syndrome and for facilitate the early diagnosis and the treatment.

  19. Laugier-Hunziker syndrome. (United States)

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


    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.

  20. Trauma induced eagle syndrome. (United States)

    Koivumäki, A; Marinescu-Gava, M; Järnstedt, J; Sándor, G K; Wolff, J


    Eagle syndrome is characterized by secondary calcification and elongation of the styloid process. Eagle syndrome is often associated with sharp, intermittent pain along the path of the glossopharyngeal nerve located in the hypopharynx and at the base of the tongue. In some cases, the stylohyoid apparatus can compress the internal and/or the external carotid arteries and their perivascular sympathetic fibres, resulting in a persistent pain radiating throughout the carotid territory. The pathogenesis of the syndrome is not understood. The authors report the case of a 52-year-old woman with post traumatic Eagle syndrome-like pain and pseudoarthrosis of the stylohyoid ligament.

  1. Sjögren's Syndrome (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  2. 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


    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

  3. Polycystic ovary syndrome and metabolic syndrome. (United States)

    Ali, Aus Tariq


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

  4. Hodgkin's Lymphoma: A Review of Neurologic Complications

    Directory of Open Access Journals (Sweden)

    Sean Grimm


    Full Text Available Hodgkin's lymphoma is a hematolymphoid neoplasm, primarily of B cell lineage, that has unique histologic, immunophenotypic, and clinical features. Neurologic complications of Hodgkin's Lymphoma can be separated into those that result directly from the disease, indirectly from the disease, or from its treatment. Direct neurologic dysfunction from Hodgkin's Lymphoma results from metastatic intracranial spinal disease, epidural metastases causing spinal cord/cauda equina compression, leptomeningeal metastases, or intradural intramedullary spinal cord metastases. Indirect neurologic dysfunction may be caused by paraneoplastic disorders (such as paraneoplastic cerebellar degeneration or limbic encephalitis and primary angiitis of the central nervous system. Hodgkin's lymphoma treatment typically includes chemotherapy or radiotherapy with potential treatment-related complications affecting the nervous system. Neurologic complications resulting from mantle-field radiotherapy include the “dropped head syndrome,” acute brachial plexopathy, and transient ischemic attacks/cerebral infarcts. Chemotherapy for Hodgkin's lymphoma may cause cerebral infarction (due to emboli from anthracycline-induced cardiomyopathy and peripheral neuropathy.

  5. Clinical Features of Intradural Extramedullary Spinal Cord Metastases 
in Primary Lung Cancer

    Directory of Open Access Journals (Sweden)

    Yan XU


    Full Text Available Background and objective Intradural extramedullary spinal cord metastases in lung cancer is rare, and it leads to severe neurological damage. The aim of this study is to identify the clinical features of intradural extramedullary spinal cord metastases in primary lung cancer patients. Methods The 8 cases of lung cancer with intradural extramedullary metastases, who were hospitalized in Peking Union Medical College Hospital (PUMCH during May 2013 to May 2016, were enrolled in the retrospective study. Medical charts of the 8 patients were reviewed systematically. Results Intradural extramedullary spinal cord metastases was diagnosed in 7 cases with non-small cell lung cancer (NSCLC and 1 case with small cell lung cancer (SCLC. Cauda equina syndrome was the most common clinical manifestation. Malignant cells in cerebrospinal fluid were positive in all the 5 cases (100% who underwent lumbar puncture. Contrast-enhanced magnetic resonance imaging (MRI of spine manifested as diffuse abnormal enhancement of pial lining of spinal cordin 3 cases, intradural extramedullary nodules in 4 cases, and both of them in 1 case. Neurological symptoms were improved or stable in 4 cases who underwent targeted therapy and/or radiotherapy. The median overall survival was 5.8 months. Conclusion Intradural extramedullary spinal cord metastases can be diagnosed with caution according to its neurological symptoms and contrast-enhanced MRI presentation.Targeted therapy and/or radiotherapy may be effective for symptoms control.

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

    Directory of Open Access Journals (Sweden)

    Sonja P. Dawsey


    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.

  7. A portable powered ankle-foot orthosis for rehabilitation

    Directory of Open Access Journals (Sweden)

    K. Alex Shorter, PhD


    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.

  8. Epidemiology of Down Syndrome (United States)

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


    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…

  9. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP


    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having Klippel-Tren

  10. Kleine Levin Syndrome

    Directory of Open Access Journals (Sweden)

    Abdul Wahid Khan, Zia Ud Din, Abdul Salam


    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.

  11. Managing Sjogren's Syndrome. (United States)

    Grossman, Sheila; Tagliavini, Lynda B


    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin.

  12. Lynch Syndrome revision.

    Directory of Open Access Journals (Sweden)

    Sila Castellón Mortera


    Full Text Available The literature regarding colon`s adenocarcinoma hereditary no poliposico or Lynch Syndrome is reviewed. The clinical characteristics, genetics and histologycal of colon´s adenocarcinoma hereditary, no poliposico are pointed out, so as the updated criteria approved in Amsterdam, for the diagnostic of patients with this Syndrome. The therapeutics is updated.

  13. Juvenile polyposis syndrome

    NARCIS (Netherlands)

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


    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

  14. Turner Syndrome (For Teens) (United States)

    ... Although girls with Turner syndrome may have certain learning difficulties, most can attend regular school and classes, and usually: write well learn well by hearing memorize information as well as others develop good language skills If you have Turner syndrome, you know ...

  15. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts


    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.

  16. The Aarskog syndrome. (United States)

    Fryns, J P; Macken, J; Vinken, L; Igodt-Ameye, L; van den Berghe, H


    In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.

  17. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha


    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.

  18. Central Pain Syndrome (United States)

    ... or hands. Central pain syndrome often begins shortly after the causative injury or damage, but may be delayed by months or even years, especially if it is related to post-stroke pain. × Definition Central pain syndrome is a neurological ...

  19. Post-Polio Syndrome (United States)

    ... or fatigue, this may overwork already stressed-out motor neurons and increase your risk of post-polio syndrome. Generally, post-polio syndrome is rarely life-threatening, but severe muscle weakness can lead to complications: Falls. Weakness in your leg muscles makes it ...

  20. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen


    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

  1. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L


    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.

  2. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette


    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...

  3. MECP2 Duplication Syndrome

    DEFF Research Database (Denmark)

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


    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 ...

  4. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.


    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

  5. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant


    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.

  6. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried


    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. Rett Syndrome Fact Sheet (United States)

    ... gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ... the difficulties with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, ...

  8. Androgen insensitivity syndrome (United States)

    ... syndrome URL of this page: // Androgen insensitivity syndrome To use the ... a condition in which the opening of the urethra is on the underside of the penis, instead of ... they can develop cancer, just like any undescended testicle. Estrogen replacement is ...

  9. Eisenmenger Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Abstract Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions.

  10. [The refeeding syndrome]. (United States)

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


    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.

  11. [Schizophrenia or Asperger syndrome?]. (United States)

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


    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. Familial pituitary tumor syndromes. (United States)

    Elston, Marianne S; McDonald, Kerrie L; Clifton-Bligh, Roderick J; Robinson, Bruce G


    The vast majority of pituitary tumors are benign and occur sporadically; however, they can still result in significant morbidity and even premature mortality through mass effects and hormone dysfunction. The etiology of sporadic tumors is still poorly understood; by contrast, advances have been made in our understanding of familial pituitary adenoma syndromes in the past decade. Currently, four genes are known to be associated with familial pituitary tumor syndromes: MEN1, CDKN1B, PRKAR1A and AIP. The first three genes are associated with a variety of extrapituitary pathologies, for example, primary hyperparathyroidism with multiple endocrine neoplasia type 1, which might aid identification of these syndromes. By contrast, AIP mutations seem to occur in the setting of isolated familial pituitary adenomas, particularly of the growth-hormone-secreting subtype. Awareness and identification of familial pituitary tumor syndromes is important because of potential associated pathologies and important implications for family members. Here, we review the current knowledge of familial pituitary tumor syndromes.

  13. Gorlin-goltz syndrome. (United States)

    Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V


    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

  14. Eagle syndrome: case report. (United States)

    Uludağ, İrem Fatma; Öcek, Levent; Zorlu, Yaşar; Uludağ, Burhanettin


    Eagle syndrome is an aggregate of symptoms caused by an elongated styloid process, most frequently resulting in headache, facial pain, dysphagia and sensation of foreign body in throat. The proper diagnosis is not difficult with clinical history, physical examination and radiographic assessment if there is a sufficient degree of suspicion. The treatment is very effective. We report here a typical case of Eagle syndrome which was misdiagnosed as trigeminal neuralgia for many years and was treated with carbamazepine. We aim to point the place of Eagle syndrome in the differential diagnosis of facial pain. We also re-emphasize the usefulness of the three-dimensional computed tomography in the diagnosis of Eagle syndrome. Even though Eagle syndrome is a rare condition, in cases of facial pain refractory to treatment or unexplained complaints of the head and neck region, it should be considered in the differential diagnosis as it has therapeutic consequences.

  15. [Orbitofrontal syndrome in psychiatry]. (United States)

    Murad, A


    Orbitofrontal syndrome is a variant of frontal lobe syndrome in which behavioural disturbances are prevailing. It results from bilateral lesions of the orbitofrontal cortex and the medial face of frontal lobe. Patients present disorganized hyperactivity. They are distractable, impulsive, euphoric and unable to abide by social rules. They often have instinctive disinhibition (hypersexuality, hyperphagia and urinary behaviour disorders). In spite of severe behavioural disturbances cognitive functions are often intact so that orbitofrontal syndrome may be confounded with two psychiatric disorders: mania (or hypomania) and antisocial personality disorder. In this article we present a case report of orbitofrontal syndrome which was initially misdiagnosed as mania. Clinical features and possible modes of presentation of this syndrome are discussed. It is suggested that serotonin reuptake inhibitors may be of some use in this disorder.

  16. [Asthenic syndrome in patients with burnout syndrome]. (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A


    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  17. Syndrome in question: Gorlin-Goltz syndrome* (United States)

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


    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

  18. Toxic Shock Syndrome (For Parents) (United States)

    ... Feeding Your 1- to 2-Year-Old Toxic Shock Syndrome KidsHealth > For Parents > Toxic Shock Syndrome Print ... en español Síndrome de shock tóxico About Toxic Shock Syndrome Toxic shock syndrome (TSS) is a serious ...


    Directory of Open Access Journals (Sweden)

    A. P. Rebrov


    Full Text Available Summary Analysis of the prevalence and clinical manifestations of paraneoplastic syndrome in 173 patients with malignant tumors admitted in departments internal medicine of Regional Clinical hospital was done. Paraneoplastic syndromes was found in 13 patients (7% and was characterized by the following rheumatic manifestations: articular syndrome, dermato- and polymyositis, lupus-like syndrome.

  20. Dysmobility syndrome: current perspectives (United States)

    Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa


    Background A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. Method All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. Results The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Conclusion Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. PMID:28144132

  1. Vascular compression syndromes. (United States)

    Czihal, Michael; Banafsche, Ramin; Hoffmann, Ulrich; Koeppel, Thomas


    Dealing with vascular compression syndromes is one of the most challenging tasks in Vascular Medicine practice. This heterogeneous group of disorders is characterised by external compression of primarily healthy arteries and/or veins as well as accompanying nerval structures, carrying the risk of subsequent structural vessel wall and nerve damage. Vascular compression syndromes may severely impair health-related quality of life in affected individuals who are typically young and otherwise healthy. The diagnostic approach has not been standardised for any of the vascular compression syndromes. Moreover, some degree of positional external compression of blood vessels such as the subclavian and popliteal vessels or the celiac trunk can be found in a significant proportion of healthy individuals. This implies important difficulties in differentiating physiological from pathological findings of clinical examination and diagnostic imaging with provocative manoeuvres. The level of evidence on which treatment decisions regarding surgical decompression with or without revascularisation can be relied on is generally poor, mostly coming from retrospective single centre studies. Proper patient selection is critical in order to avoid overtreatment in patients without a clear association between vascular compression and clinical symptoms. With a focus on the thoracic outlet-syndrome, the median arcuate ligament syndrome and the popliteal entrapment syndrome, the present article gives a selective literature review on compression syndromes from an interdisciplinary vascular point of view.

  2. Loin pain hematuria syndrome. (United States)

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans


    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis.

  3. Streptococcal toxic shock syndrome

    Directory of Open Access Journals (Sweden)

    Gvozdenović Ljiljana


    Full Text Available Introduction. Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella presented roughly 2-4 weeks later with a clinical syndrome highly suggestive of toxic shock syndrome. Characteristics, complications and therapy. It is characterized by a sudden onset of fever, chills, vomiting, diarrhea, muscle aches and rash. It can rapidly progress to severe and intractable hypotension and multisystem dysfunction. Almost every organ system can be involved. Complications of streptococcal toxic shock syndrome may include kidney failure, liver failure and even death. Crystalloids and inotropic agents are used to treat the hypovolemic shock aggressively, with close monitoring of the patient’s mean arterial pressure and central venous pressure. An immediate and aggressive management of hypovolemic shock is essential in streptococcal toxic shock syndrome. Targeted antibiotics are indicated; penicillin or a betalactam antibiotic is used for treating group A streptococci, and clindamycin has emerged as a key portion of the standard treatment.

  4. Eagle syndrome. A narrative review


    Heber Arbildo; Luis Gamarra; Sandra Rojas; Edward Infantes; Hernán Vásquez


    Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid pro...

  5. Coffin-Lowry syndrome


    Martínez, Nancy; Pontificia Universidad Javeriana; Orlando, Ricardo; Pontificia Universidad Javeriana; Muñoz, Kelly José; Pontificia Universidad Javeriana


    The Coffin-Lowry syndrome is an X-linked genetic disease, characterized by multiple skeletal deformities, short stature, and developmental delay, neurological disorder, cardiac disorders, renal and other disturbances. If not detected and treated early the syndrome may cause neural sensory hearing loss and progressive spine deformation.We report the case of a Coffin-Lowry syndrome in a 10 year old boy with hypotonic clinical characteristics, short stature, neurological development delay and pr...

  6. Gardner′s Syndrome

    Directory of Open Access Journals (Sweden)

    Sapna Panjwani


    Full Text Available Gardner′s syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid. Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner′s syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner′s syndrome.

  7. Ischemic Bilateral Opercular Syndrome

    Directory of Open Access Journals (Sweden)

    Aysel Milanlioglu


    Full Text Available Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

  8. Ischemic bilateral opercular syndrome. (United States)

    Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel


    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

  9. Cantu syndrome and lymphoedema. (United States)

    García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I; Vargas, Ana L; Castañeda-Cisneros, Gema; Davalos-Rodriguez, Nory; Patiño-Garcia, Brenda; Garcia-Cruz, Maria O; Castañeda, Victor; Cardona, Ernesto G; Marin-Solis, Bertha; Cantu, Jose M; Nuñez-Reveles, Nelly; Moran-Moguel, Cristina; Thavanati, Pavarthi K R; Ramirez-Garcia, Sergio; Sanchez-Corona, Jose


    Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.

  10. Recurrent Miller Fisher syndrome. (United States)

    Madhavan, S; Geetha; Bhargavan, P V


    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.

  11. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas


    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

  12. Iliotibial band friction syndrome. (United States)

    Lavine, Ronald


    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.

  13. Hemolytic uremic syndrome. (United States)

    Canpolat, Nur


    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood.

  14. [Refeeding syndrome: practical issues]. (United States)

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


    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.

  15. [Plummer-Vinson syndrome]. (United States)

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


    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.

  16. [Asperger's syndrome in females]. (United States)

    Waris, Petra; Kulomäki, Tuula; Tani, Pekka


    Literature on Asperger's syndrome (AS) has mainly described symptoms that are manifested in boys. Only recently, attention has been paid on the features in AS girls that differ from the typical clinical picture and may complicate the detection of the syndrome. Because AS girls may react passively in general or compensate or hide their difficulties by other abilities, the need for support is not necessarily brought up. In that case this developmental disorder easily remains unrecognized. Recognition of the syndrome at an early stage makes early supportive actions possible.


    Directory of Open Access Journals (Sweden)



    Full Text Available ABSTRACT: Tolosa-Hunt syndrome (THS is a painful ophthalmoplegi a caused by nonspecific inflammation of the cavernous sinus or superior orbi tal fissure. The syndrome consists of periorbital or hemicranial pain, combined with ipsilat eral ocular motor nerve palsies, oculosympathetic paralysis, and sensory loss in the distribution of the ophthalmic and occasionally the maxillary division of the trigemin al nerve. Although they have relapsing and remitting course, they respond promptly to systemic co rticosteroid therapy. The diagnostic eponym Tolosa-Hunt syndrome has been applied to these patients and it is this entity which forms the basis of this review

  18. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span. (United States)

    Tyler, Carl; Edman, Jennifer C


    Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Although each syndrome is caused by an abnormal number of chromosomes, or aneuploidy, they are distinct syndromes with learning disabilities and a predisposition toward autoimmune diseases,endocrinologic disorders, and cancers. Optimal health care requires a thorough knowledge of the unique health risks, psychoeducational needs, functional capabilities, and phenotypic variation associated with each condition. Syndrome-specific health care should complement standard preventive health care recommendations. Checklists and syndrome-specific growth grids should be used. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential. Support groups and Internet resources can benefit affected individuals and their families immensely.

  19. Atypical charles bonnet syndrome. (United States)

    Arun, Priti; Jain, Rajan; Tripathi, Vaibhav


    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.

  20. Beckwith-Wiedemann syndrome (United States)

    ... Wiedemann syndrome References Jones KL, Jones M, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . ... Ogilvie, PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics Growth Disorders Browse ...

  1. Complex Regional Pain Syndrome (United States)

    Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

  2. Vogt koyanagi harada syndrome

    Directory of Open Access Journals (Sweden)

    Amin S


    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.

  3. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

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


    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...

  4. Russell-Silver syndrome (United States)

    ... other conditions that may mimic Russell-Silver syndrome) Treatment Growth hormone replacement may help if this hormone is lacking. Other treatments include: Making sure the person gets enough calories, ...

  5. Catastrophic Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Rawhya R. El-Shereef


    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.


    Directory of Open Access Journals (Sweden)

    Subhasis Ranjan


    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.

  7. Learning about Turner Syndrome (United States)

    ... medical research, the dissemination of state-of-the-art TS information, and social support services to individuals, families, physicians and the general public. The Magic Foundation: Turner Syndrome [] A national non- ...

  8. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup


    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. Facts About Usher Syndrome (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... type 1 Usher syndrome are profoundly deaf at birth and have severe balance problems. Many of these ...

  10. Chronic Fatigue Syndrome (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 ...

  11. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander;


    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...... with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent...... clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...

  12. Guillain-Barre Syndrome (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. Joubert Syndrome, A Ciliopathy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap


    Full Text Available Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.

  14. Empty Sella Syndrome (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  15. Acute Radiation Syndrome (United States)

    ... Matters Information on Specific Types of Emergencies Acute Radiation Syndrome (ARS): A Fact Sheet for the Public ... is called the radiation dose. People exposed to radiation will get ARS only if: The radiation dose ...

  16. Anesthesia & Down Syndrome (United States)

    ... tests used to verify existence and severity of valvular heart disease. Unfortunately, not all adults with Down syndrome will ... exams without sedation or anesthesia. Suspected existence of valvular heart disease must be communicated to the anesthesiologist prior to ...

  17. Distal arthrogryposis syndrome

    Directory of Open Access Journals (Sweden)

    Kulkarni K


    Full Text Available A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.

  18. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Wakhloo Tulika


    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  19. Fragile X Syndrome (United States)

    Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...


    Directory of Open Access Journals (Sweden)

    Dmitriy Valer'evich Artem'ev


    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.

  1. Polycystic Ovary Syndrome (United States)

    ... Staff Polycystic ovary syndrome (PCOS) is a common endocrine system disorder among women of reproductive age. Women with PCOS ... and symptoms and then rules out other possible disorders. During this ... An Endocrine Society clinical practice guideline. The Journal of Clinical ...

  2. Cutaneous nerve entrapment syndrome

    Institute of Scientific and Technical Information of China (English)



    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.

  3. Cardiorenal Syndromes and Sepsis

    Directory of Open Access Journals (Sweden)

    C. Chelazzi


    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.

  4. Dumping syndrome (image) (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 ...

  5. Sjogren's Syndrome Foundation (United States)

    ... and receive discounts on Sjögren's resources. Follow Us Online! Join the SSF on Twitter, YouTube, Facebook, and Linkedin! anxiety © 2016 Sjögren’s Syndrome Foundation, Inc. 6707 Democracy Blvd, Ste 325, Bethesda, ...

  6. Learning about Klinefelter Syndrome (United States)

    ... muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration. Most men who ... known as Klinefelter syndrome. K,S & A: Knowledge, Support & Action [] K, S & A's mission is to help ...

  7. Obesity Hypoventilation Syndrome (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 ...

  8. Cyclic Vomiting Syndrome (United States)

    ... Eating, Diet, & Nutrition Clinical Trials View All Content Gastritis Gastrointestinal (GI) Bleeding Definition & Facts Symptoms & Causes Diagnosis ... diet. References [1] Hejazi, RA, McCallum RW. Review article: cyclic vomiting syndrome in adults—rediscovering and redefining ...

  9. Polycystic Ovary Syndrome FAQ (United States)

    ... are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • What can high levels of androgens lead to? • What can irregular menstrual periods lead ...

  10. Carpal Tunnel Syndrome (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 ...

  11. 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.


    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

  12. Blind loop syndrome (United States)

    ... part of the stomach) and 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.

  13. Down Syndrome (For Parents) (United States)

    ... disorders, breathing problems, including sleep apnea and asthma, obesity, an increased chance of infections, and a higher risk of childhood leukemia. People with Down syndrome sometimes have an unstable upper spine and should ...

  14. Prader-Willi syndrome (United States)

    ... Willi syndrome. It can help: Build strength and agility Improve height Increase muscle mass and decrease body ... The following organizations can provide resources and support: ... Prader Willi California Foundation: ...

  15. Dandy-Walker Syndrome (United States)

    ... eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders ...

  16. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H


    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.

  17. Stuttering and Tourette's Syndrome (United States)

    ... Adults Teachers Speech-Language Pathologists Physicians Employers Tweet Stuttering and Tourette's Syndrome Parents of Preschoolers Parents of ... to 3 people in 1000. Just as in stuttering, TS is more common in males than females ( ...

  18. Treacher Collins Syndrome (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 ...

  19. Turner Syndrome: Other FAQs (United States)

    ... can cause certain learning challenges, including problems learning mathematics and with memory. 7 Most girls and women ... syndrome usually require care from a variety of specialists throughout their lives. Will she be able to ...

  20. Zollinger-Ellison Syndrome (United States)

    ... stomach to produce too much acid. The excess acid then leads to peptic ulcers, as well as to diarrhea and other symptoms. Zollinger-Ellison syndrome (ZES) is rare. The disease may occur at any time in life, but ...