WorldWideScience

Sample records for bilateral abducens neuropathy

  1. Delayed-onset bilateral abducens paresis after head trauma

    Directory of Open Access Journals (Sweden)

    Pravin Salunke

    2012-01-01

    Full Text Available Bilateral sixth nerve paresis following closed head injury, though rare, is a known entity. However, delayed-onset post-traumatic bilateral abducens paresis is extremely rare. We present two cases. The first patient had onset of bilateral abducens paresis 2 weeks after closed head injury and the second patient after 3 days. The cause in the former was detected to be chronic subdural hematoma and in the latter is speculated to be edema/ischemia due to injury to soft tissue structures housing these nerves. The delayed onset of bilateral abducens paresis following head injury may vary according to the cause. There may be another mechanism of injury apart from direct trauma. Though rare, it needs to be evaluated and may have a treatable cause like elevated intracranial pressure.

  2. A case misdiagnosed as bilateral abducens palsy

    International Nuclear Information System (INIS)

    A 66-year-old male was admitted to our neurosurgical floor because of double vision and gait disturbance. Neurological examinations revealed bilateral 6th nerve palsy with both eyes pointing toward the midline. Initially, using a tentative diagnosis of intracranial mass lesions, especially localized at the base of the skull, computerized tomography of the head, cerebral angiography, orbital venography, and metrizamide CT cisternography were performed; the findings were normal. An orbital CT scan showed an enlargement of the bilateral medial rectus muscles, and the thyroid functions of T3 and T4 and the T3 uptake were all elevated, which was compatible with the diagnosis of Graves' disease. The limitations of both eyeballs were considered to be due not to the 6th nerve palsy, but to the hypertrophy of the bilateral medial rectus muscles. We neurosurgeons should recall Graves' disease as well as intracranial lesions, cerebrovascular disease, and post-traumatic sequelae when examining a patient who presents limitations of external ocular movement. (author)

  3. Rare cause of paraparesis: bilateral obturator neuropathy after hysterosalpingectomy.

    Science.gov (United States)

    López-Blanco, Roberto; Mejía-Jiménez, Inmaculada; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Ruiz-Morales, Juan

    2015-01-01

    Bilateral obturator nerve injury during pelvic surgery is an infrequent cause of lower limb paraparesis. We report the case of a 45-year-old woman with a large uterine leiomyoma who underwent simple total hysterectomy and bilateral salpingectomy. At 24 h after the surgery, the patient noticed loss of muscle strength when adducting both legs. She had no problem with other movements and no sensory or sphincter abnormalities. Neurological examination confirmed that there was loss of strength only in the adductor muscles, with preserved sensory function and reflexes, suggesting bilateral obturator nerve involvement. Pelvic MRI showed a small postsurgical haematoma in the Douglas recess, but far from the obturator nerves. 2 weeks later, electromyography showed positive sharp waves and low motor unit recruitment in the adductor magnus muscles, confirming acute, bilateral obturator nerve neuropathy. The few cases of bilateral obturator neuropathy that have been reported were mostly related to abdominopelvic interventions. PMID:26689250

  4. Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes

    Science.gov (United States)

    Shimada, Yoshiaki; Horiguchi, Masayuki

    2016-01-01

    ABSTRACT Leber hereditary optic neuropathy (LHON) causes visual loss, predominantly in healthy young men. We recently examined a patient who previously had bilateral macular holes and subsequently developed LHON at 74 years of age. Although his central scotomas were initially attributed to the macular holes, his visual acuity declined following an initial improvement after operative closure of the macular holes; thus, other diagnoses, including LHON, were considered. Furthermore, macular optical coherence tomography (OCT) images remained unchanged in this time. A mitochondrial genetic analysis identified a 11778G→A mutation. From this case, we propose that LHON remains in the differential diagnosis even in older patients, as has previously been reported. PMID:27335507

  5. Diffusion MR Imaging of Postoperative Bilateral Acute Ischemic Optic Neuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Kannan, Anusha; Srinivasan, Sivasubramanian [Khoo Teck Puat Hospital, Singapore (Singapore)

    2012-09-15

    We read with great interest, the case report on ischemic optic neuropathy (1). We would like to add a few points concerning the blood supply of the optic nerve and the correlation with the development of post-operative ischemic neuropathy. Actually, the perioperative or post-operative vision loss (postoperative ischemic neuropathy) is most likely due to ischemic optic neuropathy. Ischemic optic neuropathy (2) is classified as an anterior ischemic optic neuropathy (AION) and posterior ischemic optic neuropathy (PION). This classification is based on the fact that blood supply (2) to the anterior segment of the optic nerve (part of the optic nerve in the scleral canal and the optic disc) is supplied by short posterior ciliary vessels or anastamotic ring branches around the optic nerve. The posterior part of the optic canal is relatively less perfused, and is supplied by ophthalmic artery and central fibres are perfused by a central retinal artery. So, in the post-operative period, the posterior part of the optic nerve is more vulnerable for ischemia, especially, after major surgeries (3), one of the theories being hypotension or anaemia (2) and resultant decreased perfusion. The onset of PION is slower than the anterior ischemic optic neuropathy. AION on the other hand, is usually spontaneous (idiopathic) or due to arteritis, and is usually sudden in its onset. The reported case is most likely a case of PION. The role of imaging, especially the diffusion weighted magnetic resonance imaging, is very important because the ophthalmoscopic findings in early stages of PION is normal, and it may delay the diagnosis. On the other hand, edema of the disc is usually seen in the early stages of AION.

  6. Bilateral optic neuropathy in a patient with familial amyloidotic polyneuropathy

    DEFF Research Database (Denmark)

    Hamann, Steffen; Jensen, Peter Koch; Fledelius, Hans Callø

    2013-01-01

    Amyloidogenic transthyretin (ATTR)-related familial amyloidotic polyneuropathy (FAP) is an autosomal-dominant hereditary disease characterised by slowly progressive peripheral sensorimotor and autonomic neuropathy and tissue involvement of the heart, kidneys and central nervous system. Secondary...... ATTR Val30Met mutation. After 11 years of ophthalmic follow-up best-corrected visual acuity was 20/100 in his seeing eye, which further had visual field findings suggestive of optic neuropathy. This was also the diagnosis underlying the preceding insidious full loss of vision in the fellow eye......, with colour Doppler imaging to support an ischaemic aetiology. To our knowledge, this is the first report of ischaemic optic neuropathy in this familial amyloid disorder....

  7. Isolated Bilateral Trigeminal Neuropathy in Sarcoidosis Presenting with Neurotrophic Corneal Ulcers

    OpenAIRE

    L. Esakowit; M. Gupta; Lascaratos, G.; A. Syrogiannis

    2010-01-01

    Sarcoidosis is a multisystem granulomatous disease that may affect various organs. Nevertheless, involvement of the trigeminal nerve is exceedingly uncommon. This report presents a rare case of isolated bilateral trigeminal neuropathy presenting with neurotrophic corneal ulcers. The patient was treated with topical chloramphenicol and lubricants, as well as botulinum toxin injection to the upper eyelid to induce ptosis. Our case illustrates the importance of recognizing that bilateral corneal...

  8. Bilateral simultaneous anterior ischemic optic neuropathy, an extrahepatic manifestation of hepatitis C cured with direct acting antivirals

    Directory of Open Access Journals (Sweden)

    Prud’homme, Sylvie

    2016-04-01

    Full Text Available We report a patient with a bilateral optic anterior ischemic neuropathy as an extrahepatic complication of a chronic hepatitis C (HCV infection. The patient presented with a bilateral visual acuity loss and bilateral optic disc oedema. The optic neuropathy was associated with a sudden increase in the viral HCV load after a recent liver transplantation. The stop of the calcineurin inhibitor had no effect on the course of the optic neuropathy. Visual improvement and normalization of HCV viraemia occurred after treatment with sofosbuvir and daclatasvir, which are direct acting antivirals.

  9. Bilateral Simultaneous Nonarteritic Anterior Ischemic Optic Neuropathy after Ingestion of Sildenafil for Erectile Dysfunction

    Directory of Open Access Journals (Sweden)

    Anna Tarantini

    2012-01-01

    Full Text Available Purpose. To describe a patient who developed bilateral, simultaneous nonarteritic anterior ischemic optic neuropathy (NAION after ingestion of Sildenafil citrate (Viagra for erectile dysfunction. Methods. Observational case report. Results. A 60-year-old diabetic man noted sudden decrease of vision in both eyes 16 hours after his third consecutive 50 mg daily Sildenafil ingestion. A diagnosis of bilateral NAION was made and he was treated for three days with methylprednisolone 1 g/d intravenously, followed by oral prednisone 75 mg/d. Final visual acuity was 20/50 right eye (OD and 20/20 left eye (OS. He had preexisting diabetes. Conclusion. This is the first reported case of simultaneous bilateral NAION occurred in a diabetic patient early after Sildenafil intake. Patients with predisposing conditions such as diabetes have to be warned against the use of PDE inhibitors.

  10. The cisternal segment of the abducens nerve in man: three-dimensional MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Alkan, Alpay E-mail: aalkan@inonu.edu.tr; Sigirci, Ahmet; Ozveren, M. Faik; Kutlu, Ramazan; Altinok, Tayfun; Onal, Cagatay; Sarac, Kaya

    2004-09-01

    Purpose: The goal of this study was to identify the abducens nerve in its cisternal segment by using three-dimensional turbo spin echo T2-weighted image (3DT2-TSE). The abducens nerve may arise from the medullopontine sulcus by one singular or two separated rootlets. Material and methods: We studied 285 patients (150 males, 135 females, age range: 9-72 years, mean age: 33.3{+-}14.4) referred to MR imaging of the inner ear, internal auditory canal and brainstem. All 3D T2-TSE studies were performed with a 1.5 T MR system. Imaging parameters used for 3DT2-TSE sequence were TR:4000, TE:150, and 0.70 mm slice thickness. A field of view of 160 mm and 256x256 matrix were used. The double rootlets of the abducens nerve and contralateral abducens nerves and their relationships with anatomical structures were searched in the subarachnoid space. Results: We identified 540 of 570 abducens nerves (94.7%) in its complete cisternal course with certainty. Seventy-two cases (25.2%) in the present study had double rootlets of the abducens nerve. In 59 of these cases (34 on the right side and 25 on the left) presented with unilateral double rootlets of the abducens. Thirteen cases presented with bilateral double rootlets of the abducens (4.5%). Conclusion: An abducens nerve arising by two separate rootlets is not a rare variation. The detection of this anatomical variation by preoperative MR imaging is important to avoid partial damage of the nerve during surgical procedures. The 3DT2-TSE as a noninvasive technique makes it possible to obtain extremely high-quality images of microstructures as cranial nerves and surrounding vessels in the cerebellopontine cistern. Therefore, preoperative MR imaging should be performed to detect anatomical variations of abducens nerve and to reduce the chance of operative injuries.

  11. Hereditary Neuropathy with Liability to Pressure Palsy: A Recurrent and Bilateral Foot Drop Case Report

    Directory of Open Access Journals (Sweden)

    Filipa Flor-de-Lima

    2013-01-01

    Full Text Available Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, “sausage-like” swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis.

  12. Unilateral Acute Anterior Ischemic Optic Neuropathy in a Patient with an Already Established Diagnosis of Bilateral Optic Disc Drusen

    Directory of Open Access Journals (Sweden)

    Ziya Ayhan

    2015-01-01

    Full Text Available Optic disc drusen (ODD are calcific deposits that form in the optic nerve head secondary to abnormalities in axonal metabolism and degeneration. Anterior ischemic optic neuropathy, central retinal artery, and vein occlusion are among the rare vascular complications of disc drusen. We reported the clinical course of a 51-year-old patient with a unilateral acute nonarteritic anterior ischemic optic neuropathy (NAION who received the diagnosis of bilateral optic disc drusen five years earlier and thereby reiterated the association of ODD and acute NAION.

  13. Unilateral Acute Anterior Ischemic Optic Neuropathy in a Patient with an Already Established Diagnosis of Bilateral Optic Disc Drusen

    Science.gov (United States)

    Ayhan, Ziya; Yaman, Aylin; Söylev Bajin, Meltem; Saatci, A. Osman

    2015-01-01

    Optic disc drusen (ODD) are calcific deposits that form in the optic nerve head secondary to abnormalities in axonal metabolism and degeneration. Anterior ischemic optic neuropathy, central retinal artery, and vein occlusion are among the rare vascular complications of disc drusen. We reported the clinical course of a 51-year-old patient with a unilateral acute nonarteritic anterior ischemic optic neuropathy (NAION) who received the diagnosis of bilateral optic disc drusen five years earlier and thereby reiterated the association of ODD and acute NAION. PMID:26550507

  14. Two Cases of Elderly-Onset Hereditary Neuropathy with Liability to Pressure Palsy Manifesting Bilateral Peroneal Nerve Palsies

    Directory of Open Access Journals (Sweden)

    Norihiko Kawaguchi

    2012-10-01

    Full Text Available Hereditary neuropathy with liability to pressure palsy (HNPP is characterized by recurrent focal neuropathies, which usually become symptomatic in the second or third decade of life. However, clinical phenotypic heterogeneity among patients with HNPP has recently been reported. Certain patients show polyneuropathy-type diffuse nerve injuries, whereas others remain asymptomatic at older ages. We present two cases of elderly-onset bilateral peroneal nerve palsies with diffuse muscle weakness in the lower limbs and glove-and-stocking type sensory disturbance. Both patients were diagnosed with HNPP by genetic analyses that detected deletions of chromosome 17p11.2 in peripheral myelin protein 22 genes. Their clinical courses suggested that the Japanese sitting style termed ‘seiza’, a way of sitting on the floor with the lower legs crossed under the thighs, was a precipitating factor for the bilateral peroneal nerve palsies.

  15. Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

    Science.gov (United States)

    van Leeuwen, Roeland B; Smits, Bart W; Rodenburg, Richard J; van Engelen, Baziel G

    2016-09-01

    In patients with a triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), the presenting features are mainly ataxia or ptosis. SANDO patients often have impaired balance and gait, which is not surprising considering the combination of sensory ataxic neuropathy, and additional symptoms like cerebellar ataxia and limb girdle weakness. We describe a SANDO patient who noticed an increasingly impaired balance and gait, without any dizziness. Neurological investigation revealed an external ophthalmeplegia and a cerebellar ataxia; the head impulse test was not reliable because of eye movement disorders. The caloric reflex tests showed lack of responses on both sides, compatible with severe bilateral vestibulopathy. Making the diagnosis of bilateral vestibulopathy in SANDO patients may have implications for the management of the patient, because specific vestibular rehabilitation can improve gaze and postural stability. PMID:27552387

  16. Radiation-induced bilateral optic neuropathy in cancer of the nasopharynx. Case failure analysis and a review of the literature

    International Nuclear Information System (INIS)

    Case Report: A case history of unanticipated radiation-induced bilateral optic neuropathy, 18 months after induction chemotherapy and radiation therapy for a locally advanced nasopharyngeal carcinoma, is presented. Retrospective reanalysis of the radiation therapy technique, with emphasis on the doses received by the optic pathway structures, was performed. These re-calculations revealed unexpectedly high doses in the range 79 and 82 Gy (cumulative external and brachytherapy dose) at the level of the optic nerves, which explained the observed radiation injury. Conclusion: Routine implementation of computed tomography for 3D dose planning purposes is therefore advocated. Review of the current literature confirms the importance of 3D dose planning in avoiding this complication and highlights the role of MRI in establishing the diagnosis of radiation-induced optic neuropathy. (orig.)

  17. Paralytic squint due to abducens nerve palsy : a rare consequence of dengue fever

    Directory of Open Access Journals (Sweden)

    Shivanthan Mitrakrishnan C

    2012-07-01

    Full Text Available Abstract Background Dengue fever is an endemic illness in the tropics with early and post infectious complications affecting multiple systems. Though neurological sequelae including mononeuropathy, encephalopathy, transverse myelitis, polyradiculopathy, Guillain-Barre syndrome , optic neuropathy and oculomotor neuropathy have been reported in medical literature, the abducens nerve despite its notoriety in cranial neuropathies in a multitude of condition due to its long intracranial course had not been to date reported to manifest with lateral rectus paralysis following dengue. Case presentation A previously well 29 year old male with serologically confirmed dengue hemorrhagic fever developed symptomatic right lateral rectus palsy during the critical phase of the illness, which persisted into convalescence and post convalescence with proven deficit on Hess screen. Alternate etiologies were excluded by imaging, serology and electrophysiology. Conclusions The authors detail the first reported case of abducens nerve palsy complicating dengue fever in a previously healthy male from Sri Lanka. In a tropical country with endemic dengue infections, dengue related abducens neuropathy may be considered as a differential diagnosis in cases of acquired lateral rectus palsy after dengue fever.

  18. Microsurgical anatomy of the abducens nerve.

    Science.gov (United States)

    Joo, Wonil; Yoshioka, Fumitaka; Funaki, Takeshi; Rhoton, Albert L

    2012-11-01

    The aim of this study is to demonstrate and review the detailed microsurgical anatomy of the abducens nerve and surrounding structures along its entire course and to provide its topographic measurements. Ten cadaveric heads were examined using ×3 to ×40 magnification after the arteries and veins were injected with colored silicone. Both sides of each cadaveric head were dissected using different skull base approaches to demonstrate the entire course of the abducens nerve from the pontomedullary sulcus to the lateral rectus muscle. The anatomy of the petroclival area and the cavernous sinus through which the abducens nerve passes are complex due to the high density of critically important neural and vascular structures. The abducens nerve has angulations and fixation points along its course that put the nerve at risk in many clinical situations. From a surgical viewpoint, the petrous tubercle of the petrous apex is an intraoperative landmark to avoid damage to the abducens nerve. The abducens nerve is quite different from the other nerves. No other cranial nerve has a long intradural path with angulations and fixations such as the abducens nerve in petroclival venous confluence. A precise knowledge of the relationship between the abducens nerve and surrounding structures has allowed neurosurgeon to approach the clivus, petroclival area, cavernous sinus, and superior orbital fissure without surgical complications. PMID:22334502

  19. Bilateral optic neuropathy and intraretinal deposits after pars plana vitrectomy in amyloidosis

    Directory of Open Access Journals (Sweden)

    Rossetti Alberto

    2015-01-01

    Full Text Available Pathological examination of material from a nonextensive pars plana vitrectomy (PPV in the right eye provided a diagnosis of nonfamilial amyloidosis in a 68-year-old woman, who presented with bilateral glass wool-like vitreous opacities. Genetic testing revealed a Tyr114Cys mutation in the transthyretin gene. Six months after PPV, perimetry showed intense constriction with a temporal island and central scotoma in the right eye. An extensive PPV was performed in the left eye. Spectral domain optical coherence tomography evidenced bilateral epimacular amyloid deposits and unreported reflective spots within the inner retina. One year later, visual acuity had decreased to 20/400 in the left eye, with mild vitreous opacity, pale cupped optic disc and inferior altitudinal field defect. Bilateral diurnal intraocular pressure, transiently increased after PPV, never exceeded 16 mmHg with medication. Our patient presented optic nerve blood supply impairment, due to amyloidosis, which caused optic atrophy. Epiretinal and intraretinal deposit detection could aid in diagnosing patients with suspected amyloidosis.

  20. Paralytic squint in dengue fever- a report of three cases: Further reports of a rare, once before reported phenomenon of abducens palsy in dengue

    Directory of Open Access Journals (Sweden)

    Mitrakrishnan Shivanthan

    2013-01-01

    Full Text Available With dengue becoming endemic, more complications are being recognized including a variety of neurological complications such as mononeuropathies. Abducens palsy causing paralytic squint has been reported only once previously in medical literature. Demyelinating infective and immune-mediated mechanisms are believed to be the pathogenesis behind mononeuropathies. Neither an effective vaccine against dengue nor proven treatment for dengue neuropathy is currently available. Further studies are needed to elucidate the exact mechanism and develop effective treatment for dengue neuropathy.

  1. Isolated abducens nerve palsy with hyperhomocysteinemia: Association and outcomes

    Directory of Open Access Journals (Sweden)

    Virender Sachdeva

    2013-01-01

    Full Text Available Ischemic abducens nerve palsy usually presents as isolated cranial nerve palsy in the middle aged and elderly patients with known risk factors such as diabetes mellitus, hypertension, dyslipidemia, carotid artery disease, etc., In this report, we describe four patients with isolated abducens nerve palsy who presented with an acute onset diplopia whose detailed history and examination were suggestive of an ischemic etiology. Detailed systemic and laboratory evaluation revealed hyperhomocysteinemia as the only potential risk factor. To the best of our knowledge this is the first report of association of hyperhomocysteinemia and isolated abducens nerve palsy.

  2. Bilateral traumatic paralysis of abducent nerves and clivus fracture: Case Report

    Directory of Open Access Journals (Sweden)

    Calderon-Miranda Willen Guillermo

    2014-12-01

    Full Text Available Clivus fractures are a rare pathology, frecuently associated tohigh power trauma. Such injuries may be associated with vascular and cranial nerves lesions. The abducens nerve is particularly vulnerable to traumatic injuries due to its long intracranial course, since their real origin until the lateral rectus muscle. The unilateral abducens nerve palsy of 1- 2-7% occurs in patients with cranial trauma, bilateral paralysis is rare. We report a patient who presented bilateral abducens nerve palsy associated with a clivus fracture

  3. Isolated Abducens Nerve Palsy: Update on Evaluation and Diagnosis.

    Science.gov (United States)

    Elder, Christopher; Hainline, Clotilde; Galetta, Steven L; Balcer, Laura J; Rucker, Janet C

    2016-08-01

    Abducens nerve palsy is a common clinical finding in neurology practice. In many instances, the origin is obvious and management straightforward; however, the list of possible etiologies and mimics is vast and diverse and diagnostic decisions can be challenging and even controversial. This is especially true when the abducens nerve is affected in isolation, since in the current era of cost-effective medicine, it is critical to accurately diagnose etiologies that may lead to major morbidity or mortality with efficiency. Topics for highlighted updates in this review include management of isolated abducens nerve palsy with a high likelihood of a microvascular ischemic etiology; common imaging pitfalls and current state-of-the-art neuroimaging; and abducens palsy mimics. PMID:27306521

  4. Bilateral paraneoplastic optic neuropathy and unilateral retinal compromise in association with prostate cancer: a differential diagnostic challenge in a patient with unexplained visual loss.

    Science.gov (United States)

    Carboni, Giovannella; Forma, Gina; Bond, April D; Adamus, Grazyna; Iannaccone, Alessandro

    2012-08-01

    We report a 77-year-old Caucasian man with a 1-year complaint of unexplained visual loss and a 4-year history of prostate cancer. A complete ophthalmologic exam, Goldmann visual fields (GVFs), intravenous fluorescein angiography (IVFA), macular and disc optical coherence tomography (OCT), pattern-reversal visual evoked potentials (PVEPs), and flash electroretinograms (ERGs) were performed. On examination, visual acuity was reduced bilaterally. Fundus exam showed juxtapapillary changes (OS > OD) and, in OS, disc pallor, peripheral RPE dropout and whitish retinal discoloration along the arcades. OCTs were normal OU. Cancer-associated retinopathy (CAR) was suspected. A flash ERG was normal OD and markedly reduced and electronegative OS. An IVFA showed bilateral juxtapapillary staining and changes highly suggestive of sequelae of central retinal artery occlusion (CRAO) OS , in which a cilioretinal artery existed along the papillomacular bundle. GVFs showed bilateral blind spot enlargement and centrocecal scotomas, and PVEPs were delayed. These findings suggested cancer-associated optic neuropathy (CAON), confirmed by presence of anti-optic nerve autoantibodies (auto-Abs). No anti-retinal auto-Abs were found. CAON is a less common paraneoplastic manifestation than CAR and it is rarely observed in association with prostate cancer. A combination of visual function testing methods permitted the recognition, in this highly unusual case, of the concurrent presence of unilateral ERG changes most likely attributable to CRAO complications in OS, in all likelihood unrelated to CAON, and not to be confused with unilateral CAR. Auto-Ab testing in combination with visual function tests helps achieve a better understanding of the pathophysiology of vision loss in paraneoplastic visual syndromes.

  5. In vitro classical conditioning of abducens nerve discharge in turtles.

    Science.gov (United States)

    Keifer, J; Armstrong, K E; Houk, J C

    1995-07-01

    In vitro classical conditioning of abducens nerve activity was performed using an isolated turtle brainstem-cerebellum preparation by direct stimulation of the cranial nerves. Using a delayed training procedure, the in vitro preparation was presented with paired stimuli consisting of a 1 sec train stimulus applied to the auditory nerve (CS), which immediately preceded a single shock US applied to the trigeminal nerve. Conditioned and unconditioned responses were recorded in the ipsilateral abducens nerve. Acquisition exhibited a positive slope of conditioned responding in 60% of the preparations. Application of unpaired stimuli consisting of CS-alone, alternate CS and US, or backward conditioning failed to result in conditioning, or resulted in extinction of CRs. Latencies of CR onset were timed such that they occurred midway through the CS. Activity-dependent uptake of the dye sulforhodamine was used to examine the spatial distribution of neurons labeled during conditioning. These data showed label in the cerebellum and red nucleus during conditioning whereas these regions failed to label during unconditioned responses. Furthermore, the principal abducens nucleus labeled heavily during conditioning. These findings suggest the feasibility of examining classical conditioning in a vertebrate in vitro brainstem-cerebellum preparation. It is postulated that the abducens nerve CR represents a behavioral correlate of a blink-related eye movement. Multiple sites of conditioning are hypothesized, including the cerebellorubral circuitry and brainstem pathways that activate the principal abducens nucleus.

  6. Recurrent isolated abducens nerve paresis associated with persistent trigeminal artery variant.

    Science.gov (United States)

    Nakamagoe, Kiyotaka; Mamada, Naomi; Shiigai, Masanari; Shimizu, Kotone; Koganezawa, Tadachika; Tamaoka, Akira

    2012-01-01

    We report a 74-year-old woman who presented with recurrent isolated abducens nerve paresis. Cranial magnetic resonance imaging revealed that the right abducens nerve was sandwiched between the right internal carotid artery and a persistent trigeminal artery (PTA) variant, which might have led to neurovascular compression of the abducens nerve, resulting in abducens nerve damage. Normal variants of PTA, which are cerebellar arteries originating from a precavernous portion of the internal carotid artery, must be carefully observed as such variants can potentially cause a neurovascular compression of the abducens nerve. PMID:22892506

  7. Case report: a balance training program using the Nintendo Wii Fit to reduce fall risk in an older adult with bilateral peripheral neuropathy.

    Science.gov (United States)

    Hakim, Renée Marie; Salvo, Charles J; Balent, Anthony; Keyasko, Michael; McGlynn, Deidre

    2015-02-01

    A recent systematic review supported the use of strength and balance training for older adults at risk for falls, and provided preliminary evidence for those with peripheral neuropathy (PN). However, the role of gaming systems in fall risk reduction was not explored. The purpose of this case report was to describe the use of the Nintendo® Wii™ Fit gaming system to train standing balance in a community-dwelling older adult with PN and a history of recurrent near falls. A 76-year-old patient with bilateral PN participated in 1 h of Nintendo® Wii™ Fit balance training, two times a week for 6 weeks. Examination was conducted using a Computerized Dynamic Posturography system (i.e. Sensory Organization Test (SOT), Limits of Stability (LOS), Adaptation Test (ADT) and Motor Control Test (MCT) and clinical testing with the Berg Balance Scale (BBS), Timed Up and Go (TUG), Activities-specific Balance Confidence (ABC) scale and 30-s Chair Stand. Following training, sensory integration scores on the SOT were unchanged. Maximum excursion abilities improved by a range of 37-86% on the LOS test. MCT scores improved for amplitude with forward translations and ADT scores improved for downward platform rotations. Clinical scores improved on the BBS (28/56-34/56), ABC (57.5-70.6%) and TUG (14.9-10.9 s) which indicated reduced fall risk. Balance training with a gaming system showed promise as a feasible, objective and enjoyable method to improve physical performance and reduce fall risk in an individual with PN. PMID:25515202

  8. [Diabetic neuropathy].

    Science.gov (United States)

    Lechleitner, Monika; Abrahamian, Heidemarie; Francesconi, Claudia; Kofler, Markus

    2016-04-01

    These are the guidelines for diagnosis and treatment of diabetic neuropathy. This diabetic late complication comprises a number of mono- and polyneuropathies, plexopathies, radiculopathies and autonomic neuropathy. The position statement summarizes characteristic clinical symptoms and techniques for diagnostic assessment of diabetic neuropathy. Recommendations for the therapeutic management of diabetic neuropathy, especially for the control of pain in sensorimotor neuropathy, are provided.

  9. Diabetic Neuropathy

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Diabetic Neuropathy Information Page Table of Contents (click to ... Trials Organizations Additional resources from MedlinePlus What is Diabetic Neuropathy? Diabetic neuropathy is a peripheral nerve disorder ...

  10. A case of isolated abducens nerve paralysis in maxillofacial trauma

    Science.gov (United States)

    Keskin, Elif Seda; Keskin, Ekrem; Atik, Bekir; Koçer, Abdülkadir

    2015-01-01

    Nervus abducens is a pure motor nerve located in the pons. It retracts the eyeball laterally by stimulating rectus lateralis muscle. In case of their paralysis, diplopia and restriction in the eye movements while looking sideways, are seen. Since the same signs are seen due to the muscle entrapment in blowout fractures, its differential diagnosis has importance in terms of the treatment protocol and avoiding unnecessary operations. In this article, we present a 22-year-old male patient who was referred to our department due to the prediagnosis of blowout fracture following maxillofacial trauma. However, he was diagnosed with abducens nerve paralysis after the consultations and analysis and his restriction of movement was resolved via systemic steroid treatment instead of unnecessary operation. PMID:26981484

  11. An Infant with Benign Isolated Abducens Palsy After Vaccination

    Directory of Open Access Journals (Sweden)

    Celebi Kocaoglu

    2014-02-01

    Full Text Available Benign isolated abducens palsy is a self-improving clinical entity characterized by esotropia and diplopia led by the deficiency of abduction, and accompanied by no other neurological findings. The entity may occur after experiencing minor fever episodes, viral infection. The pathophysiological mechanism of cellular injury remains unclear. Hypotheses involve damage arising from autoimmune mediation or direct viral invasion causing demyelination, localized arteritis or genetic predisposition, which could increase susceptibility to such nerve palsies. Diagnosed with benign isolated abducens palsy, a 19-month-old girl infant admitted to our outpatient clinic with an acute onset of esotropia in the right eye developing two weeks after the vaccination of diphtheria, acellular pertussis, tetanus, inactivated polio and Haemophilus influenzae type b (DTPa-IP-Hib was presented in this report.

  12. Ischemic neuropathy and rhabdomyolysis as presenting symptoms of postpartum cardiomyopathy.

    NARCIS (Netherlands)

    Helmich, R.C.G.; Laarhoven, H.W.M. van; Schoonderwaldt, H.C.; Janssen, M.C.H.

    2009-01-01

    Rhabdomyolysis and peripheral neuropathy are two distinct disease entities which are rarely encountered in combination. We present a woman with rhabdomyolysis and peripheral neuropathy 3 weeks postpartum. Her symptoms were caused by bilateral femoral artery thrombosis due to postpartum cardiomyopath

  13. Bilateral hypermobility of ulnar nerves at the elbow joint with unilateral left ulnar neuropathy in a computer user: A case study.

    Science.gov (United States)

    Lewańska, Magdalena; Grzegorzewski, Andrzej; Walusiak-Skorupa, Jolanta

    2016-01-01

    Occupational ulnar neuropathy at the elbow joint develops in the course of long term direct pressure on the nerve and a persistently flexed elbow posture, but first of all, it is strongly associated with "holding a tool in a certain position" repetitively. Therefore, computer work only in exceptional cases can be considered as a risk factor for the neuropathy. Ulnar hypermobility at the elbow might be one of the risk factors in the development of occupational ulnar neuropathy; however, this issue still remains disputable. As this condition is mostly of congenital origin, an additional factor, such as a direct acute or chronic professional or non-professional trauma, is needed for clinical manifestations. We describe a patient - a computer user with a right ulnar nerve complete dislocation and left ulnar nerve hypermobility, unaware of her anomaly until symptoms of left ulnar neuropathy occurred in the course of job exposure. The patient was exposed to repetitive long lasting pressure of the left elbow and forearm on the hard support on the cupboard and desk because of a non-ergonomically designed workplace. The additional coexistent congenital abnormal displacement of the ulnar nerve from the postcondylar groove during flexion at the elbow increased the possibility of its mechanical injury. We recognized left ulnar neuropathy at the ulnar groove as an occupational disease. An early and accurate diagnosis of any form of hypermobility of ulnar nerve, informing patients about it, prevention of an ulnar nerve injury as well as compliance with ergonomic rules are essential to avoid development of occupational and non-occupational neuropathy. PMID:26988889

  14. Bilateral hypermobility of ulnar nerves at the elbow joint with unilateral left ulnar neuropathy in a computer user: A case study

    Directory of Open Access Journals (Sweden)

    Magdalena Lewańska

    2016-06-01

    Full Text Available Occupational ulnar neuropathy at the elbow joint develops in the course of long term direct pressure on the nerve and a persistently flexed elbow posture, but first of all, it is strongly associated with “holding a tool in a certain position” repetitively. Therefore, computer work only in exceptional cases can be considered as a risk factor for the neuropathy. Ulnar hypermobility at the elbow might be one of the risk factors in the development of occupational ulnar neuropathy; however, this issue still remains disputable. As this condition is mostly of congenital origin, an additional factor, such as a direct acute or chronic professional or non-professional trauma, is needed for clinical manifestations. We describe a patient – a computer user with a right ulnar nerve complete dislocation and left ulnar nerve hypermobility, unaware of her anomaly until symptoms of left ulnar neuropathy occurred in the course of job exposure. The patient was exposed to repetitive long lasting pressure of the left elbow and forearm on the hard support on the cupboard and desk because of a non-ergonomically designed workplace. The additional coexistent congenital abnormal displacement of the ulnar nerve from the postcondylar groove during flexion at the elbow increased the possibility of its mechanical injury. We recognized left ulnar neuropathy at the ulnar groove as an occupational disease. An early and accurate diagnosis of any form of hypermobility of ulnar nerve, informing patients about it, prevention of an ulnar nerve injury as well as compliance with ergonomic rules are essential to avoid development of occupational and non-occupational neuropathy.

  15. Toxic neuropathies

    Directory of Open Access Journals (Sweden)

    Misra Usha

    2009-01-01

    Full Text Available Toxic neuropathies generally result in length dependent axonal neuropathy with the exception of diphtheria and a few toxic neuropathies. In spite of occurrence of diphtheria in India there is paucity of published reports on diphtheritic neuropathy. Arsenic neuropathy commonly occurs in Bengal and Bangladesh because of ground water contamination whereas in Punjab it is due to contamination of opium. Lead neuropathy is rare and has been reported in battery workers and silver refining workers. It produces motor neuropathy resulting in foot drop and wrist drop. Organophosphates are used as pesticides, industrial chemicals and food adulterant. Certain organophosphates such as triorthocresyl phosphate used for or oil adulteration inhibit neurotoxic esterase and result in a delayed type of axonal neuropathy. Alcohol related neuropathy is a controversial issue whether it is due to alcohol related toxicity or due to nutritional deficiencies. Indian studies have revealed that neuropathy occurs both in alcoholic and nonalcoholic cirrhosis. Hexane neuropathy is reported in screen printers and these cases highlight the need for better preventive and occupational measures. Iatrogenic toxic neuropathies have been reported with cisplatin and vincristine. Because of geographical, occupational and health related conditions toxic neuropathies are likely to be more common than reported and greater awareness is needed.

  16. Peripheral Neuropathy

    Science.gov (United States)

    ... can be associated with peripheral neuropathy. Metabolic and endocrine disorders impair the body’s ability to transform nutrients into ... to neuropathies as a result of chemical imbalances. Endocrine disorders that lead to hormonal imbalances can disturb normal ...

  17. Autonomic neuropathy

    DEFF Research Database (Denmark)

    Hilsted, J

    1980-01-01

    In order to elucidate the physiological significance of autonomic neuropathy in juvenile diabetics, cardiovascular, hormonal and metabolic functions have been investigated in three groups of juvenile diabetics: One group had no signs of neuropathy, one group had presumably slight autonomic...... neuropathy (reduced beat-to-beat variation in heart rate during hyperventilation) and one group had clinically severe autonomic neuropathy, defined by presence of orthostatic hypotension. In all three experimental situations we found sympathetic dysfunction causing cardiovascular and/or hormonal...... maladjustments in patients with autonomic neuropathy. Regarding metabolic functions we found normal responses to graded exercise and insulin-induced hypoglycemia in patients with autonomic neuropathy in spite of blunted catecholamine responses, suggesting increased sensitivity of glycogen stores and adipose...

  18. Optic neuropathy in a patient with pyruvate dehydrogenase deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Small, Juan E. [Massachusetts General Hospital and Harvard Medical School, Department of Radiology, Boston, MA (United States); Gonzalez, Guido E. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States); Clinica Alemana de Santiago, Departmento de Imagenes, Santiago (Chile); Nagao, Karina E.; Walton, David S. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Ophthalmology, Boston, MA (United States); Caruso, Paul A. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States)

    2009-10-15

    Pyruvate dehydrogenase (PDH) deficiency is a genetic disorder of mitochondrial metabolism. The clinical manifestations range from severe neonatal lactic acidosis to chronic neurodegeneration. Optic neuropathy is an uncommon clinical sequela and the imaging findings of optic neuropathy in these patients have not previously been described. We present a patient with PDH deficiency with bilateral decreased vision in whom MRI demonstrated bilateral optic neuropathy and chiasmopathy. (orig.)

  19. CLIVUS METASTASIS PRESENTING AS ISOLATED ABDUCEN S NERVE PALSY – CASE REPORT

    Directory of Open Access Journals (Sweden)

    Chandrashekhar

    2013-10-01

    Full Text Available ABSTRACT: A 50 year old lady with past history of breast carcinoma surgery presented with progressive diplopia of 15 days duration. Examination revealed paresis of right abducens nerve. Though risk factor like Hypertension was present, patient was ordered MRI which showed Clivus and verte bral metastatic foci highly suggestive of metastasis from breast carcinoma. The patient was referred for radiation therapy. Hence, meticulous neuroophthalmic examination and management is necessary to rule out localised metastasis causing isolated abducens nerve palsy.

  20. [Autonomic neuropathies].

    Science.gov (United States)

    Siepmann, T; Penzlin, A I; Illigens, B M W

    2013-07-01

    Autonomic neuropathies are a heterogeneous group of diseases that involve damage of small peripheral autonomic Aδ- and C-fibers. Causes of autonomic nerve fiber damage are disorders such as diabetes mellitus and HIV-infection. Predominant symptoms of autonomic neuropathy are orthostatic hypotension, gastro-intestinal problems, urogenital dysfunction, and cardiac arrhythmia, which can severely impair the quality of life in affected patients. Furthermore, autonomic neuropathies can be induced by autoimmune diseases such as acute inflammatory demyelinating polyneuropathy, hereditary disorders such as the lysosomal storage disorder Fabry disease and hereditary sensory and autonomic neuropathies, as well as certain toxins and drugs.

  1. Treatment of hereditary optic neuropathies.

    Science.gov (United States)

    Newman, Nancy J

    2012-10-01

    The hereditary optic neuropathies are inherited disorders in which optic nerve dysfunction is a prominent feature in the phenotypic expression of disease. Optic neuropathy may be primarily an isolated finding, such as in Leber hereditary optic neuropathy and dominant optic atrophy, or part of a multisystem disorder. The pathophysiological mechanisms underlying the hereditary optic neuropathies involve mitochondrial dysfunction owing to mutations in mitochondrial or nuclear DNA that encodes proteins essential to mitochondrial function. Effective treatments are limited, and current management includes therapies directed at enhancing mitochondrial function and preventing oxidative damage, as well as genetic counselling, and supportive and symptomatic measures. New therapies, including gene therapy, are emerging via animal models and human clinical trials. Leber hereditary optic neuropathy, in particular, provides a unique model for testing promising treatments owing to its characteristic sequential bilateral involvement and the accessibility of target tissue within the eye. Lessons learned from treatment of the hereditary optic neuropathies may have therapeutic implications for other disorders of presumed mitochondrial dysfunction. In this Review, the natural history of the common inherited optic neuropathies, the presumed pathogenesis of several of these disorders, and the literature to date regarding potential therapies are summarized.

  2. [Hereditary neuropathies].

    Science.gov (United States)

    Vallat, Jean-Michel; Calvo, Judith; Ghorab, Karima; Tazir, Meriem

    2008-11-15

    Although there are many human hereditary neuropathies, most of them with the exception of Charcot-Marie-Tooth disease or hereditary sensorimotor neuropathy, are rare. Irrespective of their type, the mode of transmission may be autosomal dominant or recessive, or X-linked. The most difficult to diagnose, however, are the sporadic forms. It is customary to distinguish the cases in which the neuropathy is the sole clinical expression from multisystemic diseases where neuropathy is one component of multi-organ involvement. The complexity and the multiplicity of genes involved and the lack of understanding of their exact functions hinder logical presentation of these hereditary neuropathies. For understandable technical reasons, the stage of specific treatment, namely the repair of the mutated gene, has yet to be attained.

  3. Unusual presentation of hereditary neuropathy with liability to pressure palsies

    Directory of Open Access Journals (Sweden)

    Andary Michael T

    2008-01-01

    Full Text Available Abstract Background Hereditary neuropathy with liability to pressure palsies (HNPP is an autosomal-dominant painless peripheral neuropathy characterized by episodes of repeated focal pressure neuropathies at sites of entrapment/compression, with a considerable variability in the clinical course. Electrodiagnostic and genetic testing are important in the diagnostic evaluation of these patients. Case presentation We report an unusual HNPP phenotype, five compression neuropathies in four nerves in a patient with bilateral hand numbness. A 42-year-old female, presented with acute bilateral paresthesias and weakness in her hands after starting yoga exercises requiring hyperextension of her hands at the wrists. Her presentation was complicated by: a a remote history of acute onset foot drop and subsequent improvement, b previous diagnoses of demyelinating peripheral neuropathy, possibly Charcot-Marie-Tooth disease, and c exposure to leprosy. Electrodiagnostic testing showed 5 separate compression neuropathies in 4 nerves including: severe left and right ulnar neuropathies at the wrist, left and right median neuropathies at the wrist and left ulnar neuropathy at the elbow. There was a mild generalized, primarily demyelinating, peripheral polyneuropathy. Based on the clinical suspicion and electrodiagnostic findings, consistent with profound demyelination in areas of compression, genetic analysis was done which identified a deletion of the PMP-22 gene consistent with HNPP. Conclusion HNPP can present with unusual phenotypes, such as 5 separate mononeuropathies, bilateral ulnar and median neuropathies at the wrists and ulnar neuropathy at the elbow with mild peripheral demyelinating polyneuropathy associated with the PMP-22 gene deletion.

  4. Curative effect and nursing experience of nasal endoscopic surgery for bilateral traumatic optic neuropathy%双侧外伤性视神经损伤的手术疗效评估及护理研究

    Institute of Scientific and Technical Information of China (English)

    温兰英; 黄建国; 谢莉萍

    2015-01-01

    目的 探讨双侧视神经损伤经鼻内镜手术的治疗效果及相关护理策略.方法 对8例双侧外伤性视神经损伤导致失明的患者采用术前综合性药物治疗,并行鼻内镜双侧视神经减压手术,观察其疗效.围手术期做好患者心理护理及相应护理措施.结果 8例患者中,2例伤后立即失明的患者,术后双侧视力均未恢复;2例外伤昏迷醒后失明的患者,术后双侧视力部分恢复;其余4例伤后逐渐失明患者的视力治疗后均有不同程度的恢复.对8例患者重点进行围手术期并发症观察、药物不良反应观察及围手术期心理护理,住院期间患者未出现相关护理事件.结论 双侧外伤性视神经损伤导致失明,对患者造成严重心理和生理影响,应积极采用鼻内镜手术治疗,即使长时间失明者仍有恢复视力的可能性,伤后视力逐渐丧失或遗留残余视力是手术治疗有效的基本依据,伤后立刻失明者视力恢复的可能性较小.适当的心理护理和对应护理措施可保证患者平稳渡过围手术期.%Objective To explore the therapeutic efficacy and nursing experience of nasal endoscopic surgery for bilateral traumatic optic neuropathy.Methods 8 completely blind patients resulting from bilateral traumatic optic neuropathy received nasal endoscopic optic nerve decompression (NEOND) combined with all-around medication treatment.The curative effect was observed,and mental care and relevant nursing were performed.Results The vision of all patients improved except 2 patients who lost vision immediately after trauma.Nursing care focused on perioperative complication observation,medication adverse effect observation and nursing care of original disease and mental disease,basic nursing care.There was certain effect for corresponding nursing measures without occurrence of nursing events during hospital stay.Conclusions NEOND can be an effective treatment for bilateral traumatic blindness

  5. Auditory Neuropathy

    Science.gov (United States)

    ... field differ in their opinions about the potential benefits of hearing aids, cochlear implants, and other technologies for people with auditory neuropathy. Some professionals report that hearing aids and personal listening devices such as frequency modulation (FM) systems are ...

  6. Peripheral Neuropathy

    Science.gov (United States)

    ... injury (trauma) to a nerve, tumors, toxins, autoimmune responses, nutritional deficiencies, alcoholism, medical procedures, and vascular and metabolic disorders. Acquired peripheral neuropathies are caused by systemic disease, trauma from external agents, or infections or autoimmune disorders ...

  7. Horner's syndrome and contralateral abducens nerve palsy associated with zoster meningitis.

    Science.gov (United States)

    Cho, Bum-Joo; Kim, Ji-Soo; Hwang, Jeong-Min

    2013-12-01

    A 55-year-old woman presented with diplopia following painful skin eruptions on the right upper extremity. On presentation, she was found to have 35 prism diopters of esotropia and an abduction limitation in the left eye. Two weeks later, she developed blepharoptosis and anisocoria with a smaller pupil in the right eye, which increased in the darkness. Cerebrospinal fluid analysis showed pleocytosis and a positive result for immunoglobulin G antibody to varicella zoster virus. She was diagnosed to have zoster meningitis with Horner's syndrome and contralateral abducens nerve palsy. After intravenous antiviral and steroid treatments, the vesicular eruptions and abducens nerve palsy improved. Horner's syndrome and diplopia resolved after six months. Here we present the first report of Horner's syndrome and contralateral abducens nerve palsy associated with zoster meningitis.

  8. A Rare Neurological Involvement in Sjogrens Syndrome: Abducens Nerve Palsy

    Directory of Open Access Journals (Sweden)

    Yunus Ugan

    2016-05-01

    Full Text Available Sjogren%u2019s syndrome (SS is an autoimmune disorder characterized by lymphocytic infiltration of exocrine organs. Although neurological involvement occurs in approximately one quarter of patients, involvement of cranial nerves is a relatively rare occurrence. Here a rare case of cranial neuropathy related to SS is reported.

  9. Anterior ischemic optic neuropathy in patients undergoing hemodialysis

    NARCIS (Netherlands)

    DoorenbosBot, ACC; Geerlings, W; Houtman, IA

    1996-01-01

    Four patients are discussed who underwent hemodialysis and developed anterior ischemic optic neuropathy (AION). Three patients had been treated by hemodialysis for several years. One patient developed bilateral optic neuropathy after the first hemodialysis session, So far, only four hemodialysis pat

  10. Autonomic neuropathy

    DEFF Research Database (Denmark)

    Hilsted, J

    1983-01-01

    The diagnosis of autonomic neuropathy is often difficult to establish, since clinical symptoms generally appear late in the course of the disease, and may be non-specific. A number of recently developed quantifiable and reproducible autonomic nerve function tests are reviewed, with emphasis on th...

  11. Intrinsic properties guide proximal abducens and oculomotor nerve outgrowth in avian embryos.

    Science.gov (United States)

    Lance-Jones, Cynthia; Shah, Veeral; Noden, Drew M; Sours, Emily

    2012-02-01

    Proper movement of the vertebrate eye requires the formation of precisely patterned axonal connections linking cranial somatic motoneurons, located at defined positions in the ventral midbrain and hindbrain, with extraocular muscles. The aim of this research was to assess the relative contributions of intrinsic, population-specific properties and extrinsic, outgrowth site-specific cues during the early stages of abducens and oculomotor nerve development in avian embryos. This was accomplished by surgically transposing midbrain and caudal hindbrain segments, which had been pre-labeled by electroporation with an EGFP construct. Graft-derived EGFP+ oculomotor axons entering a hindbrain microenvironment often mimicked an abducens initial pathway and coursed cranially. Similarly, some EGFP+ abducens axons entering a midbrain microenvironment mimicked an oculomotor initial pathway and coursed ventrally. Many but not all of these axons subsequently projected to extraocular muscles that they would not normally innervate. Strikingly, EGFP+ axons also took initial paths atypical for their new location. Upon exiting from a hindbrain position, most EGFP+ oculomotor axons actually coursed ventrally and joined host branchiomotor nerves, whose neurons share molecular features with oculomotor neurons. Similarly, upon exiting from a midbrain position, some EGFP+ abducens axons turned caudally, elongated parallel to the brainstem, and contacted the lateral rectus muscle, their originally correct target. These data reveal an interplay between intrinsic properties that are unique to oculomotor and abducens populations and shared ability to recognize and respond to extrinsic directional cues. The former play a prominent role in initial pathway choices, whereas the latter appear more instructive during subsequent directional choices. PMID:21739615

  12. [Sudden blindness: consider Leber's hereditary optic neuropathy

    NARCIS (Netherlands)

    Schieving, J.H.; Vries, L.B.A. de; Hol, F.A.; Stroink, H.

    2008-01-01

    In 3 young male patients, aged 10, 19 and 21 years respectively, sequential, severe, painless bilateral visual loss occurred. Ophthalmological examination revealed no other abnormalities and this delayed the diagnosis Leber's hereditary optic neuropathy (LHON). LHON is a mitochondrial genetic diseas

  13. Vincristine-Induced Cranial Neuropathy

    Directory of Open Access Journals (Sweden)

    Ahmad TALEBIAN*

    2013-12-01

    Full Text Available How to Cite This Article: Talebian A, Goudarzi RM, Mohammadzadeh M , Mirzadeh AS. Vincristine-Induced Cranial Neuropathy. Iran J Child Neurol. 2014 Winter; 8(1:66-68. Abstract Vincristine (VCR is a vinca alkaloid that is used for treatment of many malignancies. The vinca alkaloids are neurotoxic, usually causing a peripheral neuropathy, but cranial neuropathies are rare as side effects. Described here is the case of a 2.5-year-old boy, a known case of Wilms’ tumor, treated by vincristine (0/067 mg/kg/day and dactinomycin (0/045 mg/kg/day after surgery. Three weeks after treatment, he presented with bilateral ptosis. Neurological examination revealed bilateral ptosis with normal pupillary reflex and eye movement. He received 3.015 mg cumulative dose of vincristine before development of ptosis. Treatment with pyridoxine (150 mg/m2 p.o. BID and pyridostigmine (3 mg/kg p.o. BID started as neuroprotective agents, and after 7 days the problem disappeared. The treatment continued for 6 weeks and there were no signs of ptosis or a recurrence in follow up 2 months later.

  14. Abducens Palsy Due to Cerebral Venous Sinus Thrombosis in a Patient with Heart Failure

    OpenAIRE

    Cem Özgönül; Osman Melih Ceylan; Fatih Mehmet Mutlu

    2015-01-01

    Cerebral venous sinus thrombosis has a wide spectrum of presentation. The clinical manifestation depends on the location of the thrombus, its rate of progression, and the extent of venous collateralization. In this case report, we present the findings of cerebral venous sinus thrombosis presenting with abducens palsy and papilloedema in a patient with heart failure, an unusual etiology for cerebral venous sinus thrombosis. (Turk J Ophthalmol 2015; 45: 179-181)

  15. Intrinsic Properties Guide Proximal Abducens and Oculomotor Nerve Outgrowth in Avian Embryos

    OpenAIRE

    Lance-Jones, Cynthia; Shah, Veeral; Noden, Drew M; Sours, Emily

    2012-01-01

    Proper movement of the vertebrate eye requires the formation of precisely patterned axonal connections linking cranial somatic motoneurons, located at defined positions in the ventral midbrain and hindbrain, with extraocular muscles. The aim of this research was to assess the relative contributions of intrinsic, population-specific properties and extrinsic, outgrowth site-specific cues during the early stages of abducens and oculomotor nerve development in avian embryos. This was accomplished...

  16. Abducens nerve palsy as a postoperative complication of minimally invasive thoracic spine surgery: a case report

    OpenAIRE

    Sandon, Luiz Henrique Dias; Choi, Gun; Park, EunSoo; Lee, Hyung-Chang

    2016-01-01

    Background Thoracic disc surgeries make up only a small number of all spine surgeries performed, but they can have a considerable number of postoperative complications. Numerous approaches have been developed and studied in an attempt to reduce the morbidity associated with the procedure; however, we still encounter cases that develop serious and unexpected outcomes. Case Presentation This case report presents a patient with abducens nerve palsy after minimally invasive surgery for thoracic d...

  17. Diabetic autonomic neuropathy.

    Science.gov (United States)

    Freeman, Roy

    2014-01-01

    Diabetes mellitus is the commonest cause of an autonomic neuropathy in the developed world. Diabetic autonomic neuropathy causes a constellation of symptoms and signs affecting cardiovascular, urogenital, gastrointestinal, pupillomotor, thermoregulatory, and sudomotor systems. Several discrete syndromes associated with diabetes cause autonomic dysfunction. The most prevalent of these are: generalized diabetic autonomic neuropathy, autonomic neuropathy associated with the prediabetic state, treatment-induced painful and autonomic neuropathy, and transient hypoglycemia-associated autonomic neuropathy. These autonomic manifestations of diabetes are responsible for the most troublesome and disabling features of diabetic peripheral neuropathy and result in a significant proportion of the mortality and morbidity associated with the disease.

  18. [Bilateral anterior uveiopapillitis, suspicious of Lyme disease--case report].

    Science.gov (United States)

    Nicula, Cristina; Nicula, D; Rusu, Ioana; Popescu, Raluca

    2013-01-01

    We present the case of a patient which associated bilateral anterior uveitis manifestations with those of bilateral anterior inflammatory optic neuropathy. We followed the evolution of the case under treatment and we discussed the differential diagnosis and the association of the two ocular pathologies.

  19. Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency

    Science.gov (United States)

    Yaghini, Omid

    2016-01-01

    Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with auditory neuropathy/auditory dyssynchrony (AN/AD). In this case, transient-evoked otoacoustic emissions showed bilaterally normal responses representing normal function of outer hair cells. In contrast, acoustic reflex test showed absent reflexes bilaterally, and visual reinforcement audiometry and auditory brainstem responses indicated severe to profound hearing loss in both ears. These results suggest AN/AD in patients with Biotinidase deficiency. PMID:27144235

  20. Spectrum of peripheral neuropathies associated with surgical interventions; A neurophysiological assessment

    LENUS (Irish Health Repository)

    Saidha, Shiv

    2010-04-19

    Abstract Background We hypothesized that a wide range of surgical procedures may be complicated by neuropathies, not just in close proximity but also remote from procedural sites. The aim of this study was to classify post-operative neuropathies and the procedures associated with them. Methods We retrospectively identified 66 patients diagnosed with post-procedure neuropathies between January 2005 and June 2008. We reviewed their referral cards and medical records for patient demographics, information on procedures, symptoms, as well as clinical and neurophysiological findings. Results Thirty patients (45.4%) had neuropathies remote from procedural sites and 36 patients (54.5%) had neuropathies in close proximity to procedural sites. Half of the remote neuropathies (15\\/30) developed following relatively short procedures. In 27% of cases (8\\/30) remote neuropathies were bilateral. Seven patients developed neuropathies remote from operative sites following hip arthroplasties (7\\/30: 23.3%), making hip arthroplasty the most common procedure associated with remote neuropathies. Sciatic neuropathies due to hip arthroplasty (12\\/36, 33.3%) accounted for the majority of neuropathies occurring in close proximity to operative sites. Five medial cutaneous nerve of forearm neuropathies occurred following arterio-venous fistula (AVF) formation. Conclusions An array of surgical procedures may be complicated by neuropathy. Almost half of post-procedure neuropathies occur remote from the site of procedure, emphasizing the need to try to prevent not just local, but also remote neuropathies. Mechanical factors and patient positioning should be considered in the prevention of post-operative neuropathies. There is a possible association between AVF formation and medial cutaneous nerve of forearm neuropathy, which requires further study for validation.

  1. Spectrum of peripheral neuropathies associated with surgical interventions; A neurophysiological assessment

    Directory of Open Access Journals (Sweden)

    Mullins Gerard

    2010-04-01

    Full Text Available Abstract Background We hypothesized that a wide range of surgical procedures may be complicated by neuropathies, not just in close proximity but also remote from procedural sites. The aim of this study was to classify post-operative neuropathies and the procedures associated with them. Methods We retrospectively identified 66 patients diagnosed with post-procedure neuropathies between January 2005 and June 2008. We reviewed their referral cards and medical records for patient demographics, information on procedures, symptoms, as well as clinical and neurophysiological findings. Results Thirty patients (45.4% had neuropathies remote from procedural sites and 36 patients (54.5% had neuropathies in close proximity to procedural sites. Half of the remote neuropathies (15/30 developed following relatively short procedures. In 27% of cases (8/30 remote neuropathies were bilateral. Seven patients developed neuropathies remote from operative sites following hip arthroplasties (7/30: 23.3%, making hip arthroplasty the most common procedure associated with remote neuropathies. Sciatic neuropathies due to hip arthroplasty (12/36, 33.3% accounted for the majority of neuropathies occurring in close proximity to operative sites. Five medial cutaneous nerve of forearm neuropathies occurred following arterio-venous fistula (AVF formation. Conclusions An array of surgical procedures may be complicated by neuropathy. Almost half of post-procedure neuropathies occur remote from the site of procedure, emphasizing the need to try to prevent not just local, but also remote neuropathies. Mechanical factors and patient positioning should be considered in the prevention of post-operative neuropathies. There is a possible association between AVF formation and medial cutaneous nerve of forearm neuropathy, which requires further study for validation.

  2. Entrapment neuropathies III: lower limb.

    Science.gov (United States)

    Beltran, Luis S; Bencardino, Jenny; Ghazikhanian, Varand; Beltran, Javier

    2010-11-01

    Clinicians frequently encounter compressive neuropathies of the lower extremity. The clinical history and physical examination, along with electrodiagnostic testing and imaging studies, lead to the correct diagnosis. The imaging characteristics of the compression neuropathies can include acute and chronic changes in the nerves and the muscles they innervate. We provide a detailed review of compression neuropathies of the lower extremity with an emphasis on magnetic resonance (MR) imaging characteristics. We discuss the clinical presentation, etiology, anatomical location, and MR imaging appearance of these neuropathies, including the piriformis syndrome, iliacus syndrome, saphenous neuropathy, obturator neuropathy, lateral femoral cutaneous neuropathy (meralgia paresthetica), proximal tibial neuropathy, common peroneal neuropathy, deep peroneal neuropathy, superficial peroneal neuropathy, tarsal tunnel syndrome, Baxter's neuropathy, jogger's foot, sural neuropathy, and Morton's neuroma. PMID:21072728

  3. [Genetics of neuropathies].

    Science.gov (United States)

    Gess, B; Schirmacher, A; Young, P

    2013-02-01

    Hereditary neuropathies belong to the most common neurogenetic disorders. They appear mostly as sensory and motor neuropathies but there are also pure sensory, pure motor as well as sensory and autonomic hereditary neuropathies. In clinical practice, knowledge of hereditary neuropathies is important in order to recognize them among polyneuropathies and achieve a successful genetic diagnosis. The molecular genetics of hereditary neuropathies are very heterogeneous with currently more than 40 known disease-causing genes. The 4 most common genes account for almost 90% of the genetically diagnosed hereditary neuropathies. In this review article we provide an overview of the currently known genes and propose a rational genetic work-up protocol of the most common genes.

  4. Vincristine-Induced Cranial Neuropathy

    Directory of Open Access Journals (Sweden)

    Ahmad TALEBIAN*

    2014-01-01

    Full Text Available How to Cite This Article: Talebian A, Goudarzi RM, Mohammadzadeh M , Mirzadeh AS. Vincristine-Induced Cranial Neuropathy. Iran J Child Neurol. 2014 Winter; 8(1:66-68. AbstractVincristine (VCR is a vinca alkaloid that is used for treatment of many malignancies.The vinca alkaloids are neurotoxic, usually causing a peripheral neuropathy, but cranial neuropathies are rare as side effects. Described here is the case of a 2.5-year-old boy, a known case of Wilms’ tumor, treated by vincristine (0/067 mg/kg/day and dactinomycin (0/045 mg/kg/day after surgery. Three weeks after treatment, he presented with bilateral ptosis.Neurological examination revealed bilateral ptosis with normal pupillary reflex and eye movement. He received 3.015 mg cumulative dose of vincristine before development of ptosis.Treatment with pyridoxine (150 mg/m2 p.o. BID and pyridostigmine (3 mg/kg p.o. BID started as neuroprotective agents, and after 7 days the problem disappeared.The treatment continued for 6 weeks and there were no signs of ptosis or a recurrence in follow up 2 months later. References:Toopchizade V, Hosseini M, et al. Electrophysiological signs of neuropathy caused by vincristine. Medical Journal of Tabriz University of Medical Sciences. 2010 Autumn;31(3; 19-25.Gursel E.S. Vincristine-Induced Unilateral Ptosis in a Child. Pediatr Neurol 2009; 41:461-463.Ngamphaiboon N, Sweeney R, Wetzler M, Wang ES. Pyridoxine treatment of vincristine-induced cranial polyneuropathy in an adult patient with acute lymphocytic leukemia: Case report and review of the literature. Leuk Res. 2010 Aug;34(8:e194-6.Lash SC, Williams CP, Marsh CS, Crithchley C, Hodgkins PR, Mackie EJ. Acute Sixth-Nerve Palsy After Vincristine Therapy. Journal of AAPOS 2004 Feb;8(1: 67-8.Bay A, Yilmaz C, Yilmaz N, Oner AF. Vincristine induced cranial polyneuropathy. Indian J Pediatr. 2006 Jun;73(6:531-3.Tuxen M K, Hansen SW. Complication of treatment, Neurotoxicity secondary to antineoplastic

  5. An unusual variant of the abducens nerve duplication with two nerve trunks merging within the orbit: a case report with comments on developmental background.

    Science.gov (United States)

    Wysiadecki, Grzegorz; Polguj, Michał; Topol, Mirosław

    2016-07-01

    This study reports the first case of abducens nerve duplication along its entire intracranial course, ending within the orbit. A distinct abducens nerve duplication reaching the common tendinous ring (annulus of Zinn), as well as another split within the intraconal segment of the nerve have been revealed. Additionally, two groups (superior and inferior) of abducens nerve sub-branches to the lateral rectus muscle were visualised using Sihler's stain. The analysed anatomical variation has never been reported before and it seems to be in the middle of the spectrum between the cases of duplication occurring only within the intracranial segments of the abducens nerve found in the literature and those continuing throughout the whole course of the nerve. Abducens nerve duplication may be treated as a relic of early stages of ontogenesis. Such a variant might result from alternative developmental pathways in which axons of the abducens nerve, specific for a given segment of the lateral rectus muscle, run separately at some stage, instead of forming a single stem. PMID:26501961

  6. Propylthiouracil and peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Valentina Van Boekel

    1992-06-01

    Full Text Available Peripheral neuropathy is a rare manifestation in hyperthyroidism. We describe the neurological manifestations of a 38 year old female with Graves' disease who developed peripheral neuropathy in the course of her treatment with propylthiouracil. After the drug was tapered off, the neurological signs disappeared. Therefore, we call attention for a possible toxic effect on peripheral nervous system caused by this drug.

  7. Painful Traumatic Trigeminal Neuropathy.

    Science.gov (United States)

    Rafael, Benoliel; Sorin, Teich; Eli, Eliav

    2016-08-01

    This article discusses neuropathic pain of traumatic origin affecting the trigeminal nerve. This syndrome has been termed painful traumatic trigeminal neuropathy by the International Headache Society and replaces atypical odontalgia, deafferentation pain, traumatic neuropathy, and phantom toothache. The discussion emphasizes the diagnosis and the early and late management of injuries to the trigeminal nerve and subsequent painful conditions.

  8. Genetically determined optic neuropathies

    DEFF Research Database (Denmark)

    Milea, Dan; Amati-Bonneau, Patrizia; Reynier, Pascal;

    2010-01-01

    The present review focuses on recent advances in the knowledge of hereditary optic neuropathies resulting from retinal ganglion cell degeneration, mostly due to mitochondrial dysfunctions.......The present review focuses on recent advances in the knowledge of hereditary optic neuropathies resulting from retinal ganglion cell degeneration, mostly due to mitochondrial dysfunctions....

  9. Bilateral hand amyotrophy with PMP-22 gene deletion.

    Science.gov (United States)

    Gochard, A; Guennoc, A M; Praline, J; Malinge, M C; de Toffol, B; Corcia, P

    2007-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) phenotypes are heterogeneous. We report the case of a 52-year-old woman without medical history, who complained of bilateral hand weakness suggestive first of a motor neuron disorder. The presence of a diffuse predominant distal demyelinating neuropathy suggested a deletion of PMP-22 gene, which was confirmed by genetic analysis. This case report underlines a novel phenotype related to the deletion of PMP-22 gene.

  10. [Immune-mediated neuropathies].

    Science.gov (United States)

    Stoll, G; Reiners, K

    2016-08-01

    The Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP) are the most common immune-mediated polyneuropathies, which can show variable clinical and electrophysiological manifestations. Rarer immune-mediated neuropathies encompass paraproteinemic neuropathies (PPN), multifocal motor neuropathy (MMN) and vasculitic neuropathies. The diagnosis usually relies on the history of symptom evolution, distribution of nerve dysfunction and particularly on characteristic features in nerve conduction studies, aided by cerebrospinal fluid (CSF) examination and nerve biopsy findings. The therapeutic toolbox encompasses corticosteroids, immunoglobulins and plasmapheresis often accompanied by long-term immunosuppression. It is important to note that immune-mediated neuropathies selectively respond to treatment and contraindications need to be considered. Despite treatment a considerable number of patients suffer from permanent neurological deficits. PMID:27474733

  11. ELECTROPHYSIOLOGICAL PROPERTIES OF MORPHOLOGICALLY-IDENTIFIED MEDIAL VESTIBULAR NUCLEUS NEURONS PROJECTING TO THE ABDUCENS NUCLEUS IN THE CHICK EMBRYO

    OpenAIRE

    Gottesman-Davis, Adria; Shao, Mei; Hirsch, June C.; Peusner, Kenna D.

    2010-01-01

    Neurons in the medial vestibular nucleus (MVN) show a wide range of axonal projection pathways, intrinsic firing properties, and responses to head movements. To determine whether MVN neurons participating in the vestibulocular reflexes (VOR) have distinctive electrophysiological properties related to their output pathways, a new preparation was devised using transverse brain slices containing the chicken MVN and abducens nucleus. Biocytin Alexa Fluor was injected extracellularly into the abdu...

  12. [Developments in hereditary neuropathies].

    Science.gov (United States)

    Dubourg, O

    2012-12-01

    Hereditary sensorimotor neuropathies, or Charcot-Marie-Tooth disease (CMT) comprise a group of diseases with heterogeneous clinical, electrophysiological and genetic expression. They are classified by the mode of inheritance (autosomal dominant, X-linked dominant, autosomal recessive) and their electrophysiological characteristics taking into account the speed of motor conduction of the median nerve (demyelinating, intermediary and axonal forms). Certain purely motor forms are called spinal CMT or hereditary distal motor neuropathy, or distal spinal amyotrophy. CMT involving an important sensorial component, trophic disorders, or signs of dysautonomia are included in the classification of hereditary sensory and autonomic neuropathies.

  13. [Hereditary optic neuropathies].

    Science.gov (United States)

    Milea, D; Verny, C

    2012-10-01

    Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy and autosomal dominant optic atrophy) are very different in their clinical presentation and their genetic transmission, leading however to a common, non-specific optic nerve atrophy. Beyond the optic atrophy-related visual loss, which is the clinical hallmark of this group of diseases, other associated neurological signs are increasingly recognized.

  14. Leprosy neuropathy: clinical presentations.

    Science.gov (United States)

    Nascimento, Osvaldo J M

    2013-09-01

    Leprosy is a chronic infectious peripheral neuropathy caused by Mycobacterium leprae. The different clinical presentations of the disease are determined by the quality of the host immune response. Early detection of leprosy and treatment by multidrug therapy are the most important steps in preventing deformity and disability. Thus the early recognition of the clinical leprosy presentation is essential. Mononeuritis, mononeuritis multiplex (MM), polyneuritis (MM summation) are the most frequent. The frequent anesthetic skin lesions are absent in the pure neuritic leprosy presentation form. Isolated peripheral nerve involvement is common, including the cranial ones. Arthritic presentation is occasionally seen, usually misdiagnosed as rheumatoid arthritis. Attention should be given to autonomic dysfunctions in leprosy. There are clinical presentations with severe neuropathic pain - painful small-fiber neuropathy. Leprous late-onset neuropathy (LLON) clinical presentation should be considered facing a patient who develop an inflammatory neuropathy many years after a previous skin leprosy treatment. PMID:24141500

  15. Electrodiagnosis of peripheral neuropathy.

    Science.gov (United States)

    Ross, Mark A

    2012-05-01

    Electrodiagnostic studies are an important component of the evaluation of patients with suspected peripheral nerve disorders. The pattern of findings and the features that are seen on the motor and sensory nerve conduction studies and needle electromyography can help to identify the type of neuropathy, define the underlying pathophysiology (axonal or demyelinating), and ultimately help to narrow the list of possible causes. This article reviews the electrodiagnostic approach to and interpretation of findings in patients with peripheral neuropathies.

  16. Diabetic neuropathy in children.

    Science.gov (United States)

    Mah, Jean K; Pacaud, Danièle

    2014-01-01

    The worldwide burden of diabetes and its complications in children continues to increase due to the rise in type 1 and type 2 diabetes. Although overt diabetic neuropathy is rarely present in children and adolescents with diabetes, subclinical diabetic neuropathy has been estimated to occur in approximately half of all children with type 1 diabetes with a duration of 5 years or longer and up to 25% of pediatric patients with newly diagnosed diabetes have abnormal findings on nerve conduction studies. The present review on the state of pediatric diabetic neuropathy covers the definition, prevalence, pathogenesis, diagnosis, risk factors, and possible treatment approaches specific to children and adolescents with diabetes. It also highlights the many unknowns in this field. Nonetheless, new emerging interventions that can either prevent or delay the progression of diabetic microvascular and macrovascular complications may become available in the near future. Until specific interventions for diabetic neuropathy are available for use in children, it will be hard to justify screening for neuropathy other than through clinical assessment. Meanwhile, the search for quicker, easily administered, and quantifiable tests for diabetic neuropathy and efforts to establish valid pediatric norms for well-established measures used in adults will need to continue.

  17. Leber hereditary optic neuropathy: current perspectives

    Directory of Open Access Journals (Sweden)

    Meyerson C

    2015-06-01

    Full Text Available Cherise Meyerson, Greg Van Stavern, Collin McClelland Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA Abstract: Leber hereditary optic neuropathy (LHON is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. Keywords: Leber hereditary optic neuropathy, mitochondria, neuro-ophthalmology, mitochondrial DNA

  18. Peripheral Neuropathy and Agent Orange

    Science.gov (United States)

    ... Enter ZIP code here Peripheral Neuropathy and Agent Orange VA presumes Veterans' early-onset peripheral neuropathy is related to their exposure to Agent Orange or other herbicides during service when the disease ...

  19. Megaoesophagus due to acrylamide neuropathy.

    OpenAIRE

    Satchell, P M; McLeod, J G

    1981-01-01

    Greyhound dogs exposed to oral acrylamide for a period of eight weeks developed a sensorimotor peripheral neuropathy that had many features in common with acrylamide neuropathy seen in other species. Most of the animals also developed the clinical and radiological features of megaoesophagus. The association of neuropathy and megaoesophagus suggests that an axonopathy of the vagus may be an aetiological factor in this disorder.

  20. Chronic meningitis with intracranial hypertension and bilateral neuroretinitis following Mycoplasma pneumoniae infection.

    Science.gov (United States)

    Karampatsas, Konstantinos; Patel, Himanshu; Basheer, Sheikh N; Prendergast, Andrew J

    2014-12-23

    A previously well 12-year-old boy presented with a 2-week history of headache, nausea, vomiting and left-sided weakness. He subsequently developed meningism, right abducens nerve palsy, persistent papilloedema and reduced visual acuity in association with a bilateral macular star, consistent with neuroretinitis. Cerebrospinal fluid (CSF) examination indicated chronic meningitis and serological testing confirmed recent Mycoplasma pneumoniae infection, although PCR in CSF was negative. He was treated for aseptic meningitis with ceftriaxone, aciclovir, azithromycin and acetazolamide for intracranial hypertension, with gradual improvement in clinical condition and visual acuity over several weeks. This is the first report of M. pneumoniae chronic meningitis further complicated with bilateral neuroretinitis and intracranial hypertension. Evidence of central nervous system inflammation in the absence of direct infection suggests an immune-mediated pathophysiology. Although the use of macrolides with antibiotic and immunomodulatory activity might be beneficial, it was not possible to ascertain whether it influenced clinical recovery in this case.

  1. Catecholamines and diabetic autonomic neuropathy

    DEFF Research Database (Denmark)

    Hilsted, J

    1995-01-01

    In diabetic patients with autonomic neuropathy plasma noradrenaline concentration, used as an index of sympathetic nervous activity, is low. This decrease is, however, only found in patients with a long duration of diabetes with clinically severe autonomic neuropathy. This apparent insensitivity...... of plasma catecholamine measurements is not due to changes in the clearance of catecholamines in diabetic autonomic neuropathy. The physiological responses to infused adrenaline and to noradrenaline are enhanced, for noradrenaline mainly cardiovascular responses. Adrenoceptors (alpha and beta adrenoceptors......) are not altered in circulating blood cells in diabetic autonomic neuropathy. Thus, a generalized up-regulation of adrenoceptors does not occur in diabetic autonomic neuropathy....

  2. Testing for autonomic neuropathy

    DEFF Research Database (Denmark)

    Hilsted, J

    1984-01-01

    Autonomic neuropathy is a common complication in long-term diabetes, about 30% of the patients showing measurable signs of autonomic dysfunction after 10 years duration of disease. The diagnosis is often difficult to establish because clinical symptoms generally occur late in the course...

  3. [Hereditary peripheral neuropathies].

    Science.gov (United States)

    Vallat, Jean-Michel; Tazir, Mériem; Calvo, Judith; Funalot, Benoît

    2009-09-01

    Currently more than 30 genes are known to be responsible for genetically determined neuropathies. Charcot-Marie-Tooth (CMT) disease is the most frequent of these hereditary neuropathies, with a prevalence of 4.7 to 36 per 100 000. In its demyelinating forms (CMT1), approximately 70% of cases are associated with a duplication of the PMP22gene. In its axonal forms (CMT2), 10-20% of the cases may be associated with a mutation of the MFN2gene. For North African patients with recessive transmission, a mutation of the LMNA gene must be sought. It is essential to stress the great variability of the phenotype--clinical, electrophysiological, and histologic--between and within families. A detailed analysis of these criteria, together with consideration of ethnic origin, may guide the search for the causal mutation. Whether the case involves certainly hereditary transmission or a sporadic form, it is desirable to be able to examine the maximum number of the patient's kin, both clinically and electrophysiologically. The forms with recessive transmission usually have a very early onset and are more serious than the dominant forms. The early- and very early-onset forms of CMT are increasingly better distinguished: congenital hypomyelination neuropathy (mutations of PMP22, MPZ or EGR2), or more axonal forms, including SMARD1 (Spinal muscle atrophy with respiratory distress; mutations of IGHMBP2) and EOHMSN (Early-onset hereditary motor and sensory neuropathy; mutations of MFN2). The prevention of cutaneous (ulcerations), bone, and amputation complications is very important in patients with hereditary sensory and autonomic neuropathies, because of the severity of the sensory disorders.

  4. Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults.

    Science.gov (United States)

    Celik, Yahya; Kilinçer, Cumhur; Hamamcioğlu, M Kemal; Balci, Kemal; Birgili, Bariş; Cobanoğlu, Sebahattin; Utku, Ufuk

    2008-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant nerve disease usually caused by 1,5 Mb deletion on chromosome 17p11.2.2-p12, the region where the PMP-22 gene is located. The patients with HNPP usually have relapsing and remitting entrapment neuropathies due to compression. We present a 14-year-old male who had acute onset, right-sided ulnar nerve entrapment at the elbow. He had electrophysiological findings of bilateral ulnar nerve entrapments (more severe at the right side) at the elbow and bilateral median nerve entrapment at the wrist. Genetic tests of the patient demonstrated deletions in the 17p11.2 region. The patient underwent decompressive surgery for ulnar nerve entrapment at the elbow and completely recovered two months after the event. Although HNPP is extremely rare, it should be taken into consideration in young adults with entrapment neuropathies.

  5. Toxic optic neuropathy: An unusual cause

    Directory of Open Access Journals (Sweden)

    Hema L Ramkumar

    2014-01-01

    Full Text Available A 60-year-old woman with a history of chronic alcoholism and tobacco use presented with the complaint of a painless decrease in vision in both eyes. She lost vision first in the left eye then in the right eye. She admitted consuming at least one 16 ounce bottle of over the counter mouthwash daily and denied consumption of any other alcohols, methanol, or antifreeze. She stated that her vision had been continuing to deteriorate in both eyes. Her best-corrected visual acuity was 4/200 in each eye. Color vision was nil in each eye. Her pupils were sluggish bilaterally, and her optic discs were flat and hyperemic with peripapillary hemorrhages. Her visual fields revealed central scotomas bilaterally. The magnetic resonance imaging of the brain and lumbar puncture were within normal limits. Antinuclear antibody, human leukocyte antigen-B27 genotyping, and B12 were normal; serum thiamine was low. While continuing to ingest mouthwash, her vision decreased to count fingers at 2 feet, and maculopapillary bundle pallor developed. She was started on folate and thiamine supplementation. Once she discontinued mouthwash, her vision improved to 20/400 bilaterally, and her central scotomas improved. This case demonstrates an alcohol-induced toxic optic neuropathy from mouthwash ingestion with some visual recovery after discontinuation of the offending agent.

  6. Diabetic Neuropathies: The Nerve Damage of Diabetes

    Science.gov (United States)

    ... Organizations (PDF, 293 KB). Alternate Language URL Español Diabetic Neuropathies: The Nerve Damage of Diabetes Page Content ... treated? Points to Remember Clinical Trials What are diabetic neuropathies? Diabetic neuropathies are a family of nerve ...

  7. A case of superior segmental optic hypoplasia accompanied by a glaucomatous optic neuropathy

    OpenAIRE

    Ohguro, Hiroshi

    2008-01-01

    Ikuyo Ohguro, Hiroshi OhguroDepartment of Ophthalmology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, JapanAbstract: This is the first case report of a bilateral superior segmental optic hypoplasia (SSOH) accompanied by a glaucomatous optic neuropathy (GON). A 47-year-old man incidentally diagnosed as having bilateral SSOH, simultaneously disclosed glaucomatous optic disc appearances, including enlargements of the cup of the optic nerve heads and a thinning of the infero-...

  8. Painful peripheral neuropathy

    OpenAIRE

    Sun, Bo; Xu-sheng HUANG

    2013-01-01

    Painful peripheral neuropathy (PPN) is characterized by neuropathic pain (NP), which is accompanied by dysfunction of motor, sensory and autonomic nervous system. It always involves small nerve fibers, including A δ and C fibers. PPN can be classified into two types according to etiology: hereditary and acquired. Pain of PPN can manifest as spontaneous pain and stimulus-evoked pain (allodynia, hyperalgesia and hyperpathia). The manifestation of typical cases is length-dependent, which firstly...

  9. Multifocal motor neuropathy

    OpenAIRE

    Thy P Nguyen; Vinay Chaudhry

    2011-01-01

    Multifocal motor neuropathy (MMN) is a unique disorder characterized by slowly progressive, asymmetric, distal and upper limb predominant weakness without significant sensory abnormalities. Electrophysiology is crucial to the diagnosis, revealing the hallmark partial conduction block. MMN is considered immune mediated due to the association with anti-GM1 antibodies and the response to immunomodulatory treatment. It is paramount to recognize MMN from other motor neuronopathies or peripheral ne...

  10. Painful peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    SUN Bo

    2013-09-01

    Full Text Available Painful peripheral neuropathy (PPN is characterized by neuropathic pain (NP, which is accompanied by dysfunction of motor, sensory and autonomic nervous system. It always involves small nerve fibers, including A δ and C fibers. PPN can be classified into two types according to etiology: hereditary and acquired. Pain of PPN can manifest as spontaneous pain and stimulus-evoked pain (allodynia, hyperalgesia and hyperpathia. The manifestation of typical cases is length-dependent, which firstly involves the feet, and then progresses proximally and to the hands, presenting a glove-stock pattern. PPN can be either an isolated disease entity or part of other diseases. The former indicates idiopathic small fiber neuropathy (SFN, while the latter contains various diseases involving peripheral nerve fibers, including systemic diseases such as diabetes mellitus and peripheral neuropathy with other causes. The accessory examinations of PPN include quantitative sensory testing (QST, intraepidermal nerve fiber density (IENFD, sympathetic skin response (SSR, etc. Among them, IENFD is the "golden standard" for SFN. The major therapeutic methods are to control primary diseases and relieve pain. Medications alleviating neuropathic pain consist of carbamazepine, pregabalin, gabapentin and amitriptyline, etc.

  11. Drug-induced peripheral neuropathy

    DEFF Research Database (Denmark)

    Vilholm, Ole Jakob; Christensen, Alex Alban; Zedan, Ahmed;

    2014-01-01

    Peripheral neuropathy can be caused by medication, and various descriptions have been applied for this condition. In this MiniReview, the term 'drug-induced peripheral neuropathy' (DIPN) is used with the suggested definition: Damage to nerves of the peripheral nervous system caused by a chemical...... substance used in the treatment, cure, prevention or diagnosis of a disease. Optic neuropathy is included in this definition. A distinction between DIPN and other aetiologies of peripheral neuropathy is often quite difficult and thus, the aim of this MiniReview is to discuss the major agents associated...

  12. Profound bilateral visual loss after hysterectomy indicated for severe postpartum haemorrhage

    DEFF Research Database (Denmark)

    Ostri, Christoffer; Zibrandtsen, Nathalie; Larsen, Michael;

    2014-01-01

    We present a case of a patient with bilateral posterior ischaemic optic neuropathy in the previously unreported setting of hysterectomy indicated for severe postpartum haemorrhage. The diagnosis was based on clinical and paraclinical examinations, including MRI of the head, electroretinography (ERG....... The diagnosis of perioperative posterior ischaemic optic neuropathy is mostly a clinical diagnosis. However, MRI plays a major role in excluding other causes of visual loss, and VEP, ERG and OCT are valuable supplemental diagnostic tools....

  13. Leber hereditary optic neuropathy: current perspectives

    Science.gov (United States)

    Meyerson, Cherise; Van Stavern, Greg; McClelland, Collin

    2015-01-01

    Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. PMID:26170609

  14. Bilateral anterior shoulder dislocation

    OpenAIRE

    Meena, Sanjay; Saini, Pramod; Singh, Vivek; Kumar, Ramakant; Trikha, Vivek

    2013-01-01

    Shoulder dislocations are the most common major joint dislocations encountered in the emergency departments. Bilateral shoulder dislocations are rare and of these, bilateral posterior shoulder dislocations are more prevalent than bilateral anterior shoulder dislocations. Bilateral anterior shoulder dislocation is very rare. We present a case of 24-year-old male who sustained bilateral anterior shoulder dislocation following minor trauma, with associated greater tuberosity fracture on one side...

  15. Approach to diagnosis and management of optic neuropathy

    Directory of Open Access Journals (Sweden)

    Sharik Mustafa

    2014-01-01

    Full Text Available Visual loss consequent to anterior visual pathway involvement can occur in a variety of clinical settings. In a tropical country like India, apart from the usual suspects, nutritional, infective, and toxic amblyopia have to be considered in the differential diagnosis. The mode of onset (acute/chronic, unilateral versus bilateral involvement, accompanying occular pain or the lack of it, and pattern of visual loss are some of the pointers which help to differentiate optic neuropathy clinically. The presence of concurrent neurological deficits, evidence of other systemic illnesses, and the results of serological and radiological investigations help to confirm the diagnosis. This article briefly describes the important causes of optic neuropathy in the Indian context and outlines a practical approach to management.

  16. Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report

    Directory of Open Access Journals (Sweden)

    Luciano Mesquita Simão

    2012-08-01

    Full Text Available Neuromyelitis optica antibody (or aquaporin-4 antibody is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

  17. Suspected hypothyroid-associated neuropathy in a female rottweiler dog

    Science.gov (United States)

    Rushton, James Oliver; Leschnik, Michael; Nell, Barbara

    2013-01-01

    A 7-year-old, 46-kg spayed female rottweiler dog was presented with sudden onset of disorientation, bilateral convergent strabismus, and enophthalmos. Diagnostic workup revealed hypothyroid-associated cranial neuropathy. Symptoms abated considerably upon treatment with levothyroxine-sodium (T4) at an initial dose of 800 μg/kg body weight (BW), PO, q12h, which was reduced 3 days later to 600 μg/kg BW, q12h due to severe agitation and panting. Two weeks later the dosage of the levothyroxine-sodium (T4) was reduced to 400 μg/kg BW in the morning and 600 μg/kg BW in the evening. Eight weeks after the initial presentation, the dog had recovered with only mild convergent strabismus in the right eye. This is the first case report of suspected hypothyroid-associated neuropathy resulting in these symptoms. PMID:24082164

  18. Diagnostic approach to peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Misra Usha

    2008-01-01

    Full Text Available Peripheral neuropathy refers to disorders of the peripheral nervous system. They have numerous causes and diverse presentations; hence, a systematic and logical approach is needed for cost-effective diagnosis, especially of treatable neuropathies. A detailed history of symptoms, family and occupational history should be obtained. General and systemic examinations provide valuable clues. Neurological examinations investigating sensory, motor and autonomic signs help to define the topography and nature of neuropathy. Large fiber neuropathy manifests with the loss of joint position and vibration sense and sensory ataxia, whereas small fiber neuropathy manifests with the impairment of pain, temperature and autonomic functions. Electrodiagnostic (EDx tests include sensory, motor nerve conduction, F response, H reflex and needle electromyography (EMG. EDx helps in documenting the extent of sensory motor deficits, categorizing demyelinating (prolonged terminal latency, slowing of nerve conduction velocity, dispersion and conduction block and axonal (marginal slowing of nerve conduction and small compound muscle or sensory action potential and dennervation on EMG. Uniform demyelinating features are suggestive of hereditary demyelination, whereas difference between nerves and segments of the same nerve favor acquired demyelination. Finally, neuropathy is classified into mononeuropathy commonly due to entrapment or trauma; mononeuropathy multiplex commonly due to leprosy and vasculitis; and polyneuropathy due to systemic, metabolic or toxic etiology. Laboratory investigations are carried out as indicated and specialized tests such as biochemical, immunological, genetic studies, cerebrospinal fluid (CSF examination and nerve biopsy are carried out in selected patients. Approximately 20% patients with neuropathy remain undiagnosed but the prognosis is not bad in them.

  19. Vincristine-Induced Cranial Neuropathy

    OpenAIRE

    TALEBIAN, Ahmad; Razeieh GOUDARZI; Mohammadzadeh, Mahdi; Mirzadeh, Azadeh Sadat

    2014-01-01

    How to Cite This Article: Talebian A, Goudarzi RM, Mohammadzadeh M , Mirzadeh AS. Vincristine-Induced Cranial Neuropathy. Iran J Child Neurol. 2014 Winter; 8(1):66-68. AbstractVincristine (VCR) is a vinca alkaloid that is used for treatment of many malignancies.The vinca alkaloids are neurotoxic, usually causing a peripheral neuropathy, but cranial neuropathies are rare as side effects. Described here is the case of a 2.5-year-old boy, a known case of Wilms’ tumor, treated by vincristine (0/0...

  20. Bilateral Tarsal Tunnel Syndrome Due To Bilateral Lipoma: A Case Report

    Directory of Open Access Journals (Sweden)

    C. Eren CANSÜ, İstemi YÜCEL, Kutay ÖZTURAN

    2010-11-01

    Full Text Available Tarsal tunnel syndrome is an entrapment neuropathy of posterior tibial nerve under the flexorretinaculum. Patients generally present with paresthesias on the plantar side of foot and fingersand in the distal kruris.The causes of tarsal tunnel syndrome are space occupying lesions within or around the tunnelwhich exert pressure to the nerve, ankle deformities, systemic illnesses, trauma or lesions ofthe nerve itself.In this study a case of tarsal tunnel syndrome due to bilateral lipoma which was treated surgicallyis presented.

  1. Organophosphorus agent induced delayed neuropathy: a case report

    Directory of Open Access Journals (Sweden)

    Harshit Acharya

    2016-02-01

    Full Text Available A 40-year old male, was presented with complaint of difficulty in walking with inability to flex foot and toes in bilateral feet ( and ldquo;foot drop and rdquo;, which was acute at the onset and gradually progressive since the past 7 days. The patient's wife and their 2 children had similar complaint with the same period of onset. At home, his family used cottonseed oil as cooking oil with wheat grain mixed with castor oil. On neurological examination, he was found to have lower motor neuron weakness with spasticity. After ruling out other common causes of polyneuropathy and lower motor weakness; due to high suspicion of poisoning by food adulterant, RBC acetyl cholinesterase (AChE and plasma cholinesterase (BuChE were tested at National Institute of Occupational Health (NIOH, which came low and confirmed diagnosis of Organophosphorus (OP poisoning. Nerve conduction study was done; which showed decreased amplitude of conduction in bilateral peroneal and right tibial nerve along with decreased mean nerve conduction velocity of bilateral median nerve. Thus patient was diagnosed with organophosphorus agent induced delayed axonal type of polyneuropathy and physiotherapy was started as treatment. OP compounds are a diverse group of chemicals which are principally used as insecticides in agriculture. Following organophosphate poisoning (OPP, 3 well-defined neurological syndromes are recognised: cholinergic crisis, intermediate syndrome and delayed polyneuropathy. Some organophosphates, particularly triorthocresyl phosphate (TOCP and tricresyl phosphate (TCP, produce delayed neuropathy. On ingestion, they do not produce significant cholinergic crisis, but 7 to 20 days later it leads to a pure motor axonal neuropathy with wrist and foot drop. The mechanism may involve inhibition of neuropathy target esterase (NTE, which is found in the brain, peripheral nerves, and lymphocytes. This form of toxicity has been seen occasionally in small epidemics in

  2. Auditory Neuropathy - A Case of Auditory Neuropathy after Hyperbilirubinemia

    Directory of Open Access Journals (Sweden)

    Maliheh Mazaher Yazdi

    2007-12-01

    Full Text Available Background and Aim: Auditory neuropathy is an hearing disorder in which peripheral hearing is normal, but the eighth nerve and brainstem are abnormal. By clinical definition, patient with this disorder have normal OAE, but exhibit an absent or severely abnormal ABR. Auditory neuropathy was first reported in the late 1970s as different methods could identify discrepancy between absent ABR and present hearing threshold. Speech understanding difficulties are worse than can be predicted from other tests of hearing function. Auditory neuropathy may also affect vestibular function. Case Report: This article presents electrophysiological and behavioral data from a case of auditory neuropathy in a child with normal hearing after bilirubinemia in a 5 years follow-up. Audiological findings demonstrate remarkable changes after multidisciplinary rehabilitation. Conclusion: auditory neuropathy may involve damage to the inner hair cells-specialized sensory cells in the inner ear that transmit information about sound through the nervous system to the brain. Other causes may include faulty connections between the inner hair cells and the nerve leading from the inner ear to the brain or damage to the nerve itself. People with auditory neuropathy have OAEs response but absent ABR and hearing loss threshold that can be permanent, get worse or get better.

  3. Leber Hereditary Optic Neuropathy

    Directory of Open Access Journals (Sweden)

    Kopishinskaya S.V.

    2014-06-01

    Full Text Available Leber optic neuropathy is mitochondrial neurodegenerative disease manifested by progressive visual deterioration due to optic nerve atrophy. It is most frequently manifested in young people aged from 18 to 30, male patients prevailing. The disease is characterized by maternal inheritance, and the inheritance of a feature discontinues in men. In 95% cases Leber hereditary optic neuropathology is due to one of three known mitochondrial DNA mutations, its type being important in relation to the disease prognosis. The disease course has a number of succeeding stages: preclinical, acute and chronic (atrophic. The disease diagnosis is based on the characteristic clinical presentation of sequential impairment of both eyes forming central scotoma, the analysis of family history and detection of specific mutations. The present clinical observation illustrates the difficulties in Leber disease diagnosis.

  4. Critical illness neuropathy

    Directory of Open Access Journals (Sweden)

    Vijayan J

    2005-01-01

    Full Text Available The neuromuscular syndrome of acute limb and respiratory weakness that commonly accompanies patients with multi-organ failure and sepsis constitutes critical illness polyneuropathy. It is a major cause of difficulty in weaning off the patient from the ventilator after respiratory and cardiac causes have been excluded. It is usually an axonal motor-sensory polyneuropathy, and is usually associated with or accompanied with a coma producing septic encephalopathy. The neuropathy is usually not apparent until the patient′s encephalopathy has peaked, and may be noted only when the brain dysfunction is resolving. Patients usually have a protracted hospital course complicated by multi-organ failure and the systemic inflammatory response syndrome. Elevated serum glucose levels and reduced albumin are risk factors for nerve dysfunction, as is prolonged intensive care unit stay. Polyneuropathy may develop after only one week of the systemic inflammatory response syndrome, but the frequency tends to correlate with the duration of the severe illness.

  5. [Leber's hereditary optic neuropathy].

    Science.gov (United States)

    Leo-Kottler, B; Wissinger, B

    2011-12-01

    Leber's hereditary optic neuropathy (LHON) is a rare disease primarily affecting the retinal ganglion cells. In most cases patients with LHON develop permanent visual loss with a large central scotoma in the visual field of both eyes. The optic disc becomes partially or completely pale. At the onset of the disease many patients are considered to suffer from an optic neuritis and are treated under the diagnostic and therapeutic regimen of optic neuritis. LHON is mostly only considered when high dose cortisone therapy fails to be effective or the second eye is affected. Thereafter, molecular genetic analysis will prove LHON in these cases. Detailed anamnesis including pedigree analysis in combination with observance of the peripapillary microangiopathic alterations at the fundus will help to speed up the diagnosis of LHON, but even after exact clinical and molecular genetic diagnosis of LHON some aspects of the disease still remain a mystery today.

  6. Treatment of chronic inflammatory neuropathies

    NARCIS (Netherlands)

    F. Eftimov

    2015-01-01

    This thesis focuses on the efficacy of existing and alternative treatments in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN) and explores predictors of treatment response in patients with CIDP treated with corticosteroids. The efficacy of intra

  7. Suspected hypothyroid-associated neuropathy in a female rottweiler dog

    OpenAIRE

    Rushton, James Oliver; Leschnik, Michael; Nell, Barbara

    2013-01-01

    A 7-year-old, 46-kg spayed female rottweiler dog was presented with sudden onset of disorientation, bilateral convergent strabismus, and enophthalmos. Diagnostic workup revealed hypothyroid-associated cranial neuropathy. Symptoms abated considerably upon treatment with levothyroxine-sodium (T4) at an initial dose of 800 μg/kg body weight (BW), PO, q12h, which was reduced 3 days later to 600 μg/kg BW, q12h due to severe agitation and panting. Two weeks later the dosage of the levothyroxine-sod...

  8. Novel use of idebenone in Leber's hereditary optic neuropathy in Hong Kong.

    Science.gov (United States)

    Cheng, S W; Ko, C H; Yau, S K; Mak, Chloe; Yuen, Y F; Lee, C Y

    2014-10-01

    We report a case of a young Chinese male presenting with sequential, painless, bilateral visual loss in Hong Kong. He was diagnosed to have Leber's hereditary optic neuropathy with genetic workup showing G11778A mutation with over 80% heteroplasmy. He was started on idebenone treatment 11 months after onset of the binocular disease. To our best knowledge, this is the first case of Leber's hereditary optic neuropathy treated with idebenone in Hong Kong. The recent evidence of the diagnosis and treatment of this devastating disease is reviewed.

  9. Pes cavus and hereditary neuropathies: when a relationship should be suspected.

    Science.gov (United States)

    Piazza, S; Ricci, G; Caldarazzo Ienco, E; Carlesi, C; Volpi, L; Siciliano, G; Mancuso, M

    2010-12-01

    The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of diseases of the peripheral nervous system. Foot deformities, including the common pes cavus, but also hammer toes and twisting of the ankle, are frequently present in patients with hereditary peripheral neuropathy, and often represent one of the first signs of the disease. Pes cavus in hereditary peripheral neuropathies is caused by imbalance between the intrinsic muscles of the foot and the muscles of the leg. Accurate clinical evaluation in patients with pes cavus is necessary to exclude or confirm the presence of peripheral neuropathy. Hereditary peripheral neuropathies should be suspected in those cases with bilateral foot deformities, in the presence of family history for pes cavus and/or gait impairment, and in the presence of neurological symptoms or signs, such as distal muscle hypotrophy of limbs. Herein, we review the hereditary peripheral neuropathies in which pes cavus plays a key role as a "spy sign," discussing the clinical and molecular features of these disorders to highlight the importance of pes cavus as a helpful clinical sign in these rare diseases. PMID:20963465

  10. Pes cavus and hereditary neuropathies: when a relationship should be suspected.

    Science.gov (United States)

    Piazza, S; Ricci, G; Caldarazzo Ienco, E; Carlesi, C; Volpi, L; Siciliano, G; Mancuso, M

    2010-12-01

    The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of diseases of the peripheral nervous system. Foot deformities, including the common pes cavus, but also hammer toes and twisting of the ankle, are frequently present in patients with hereditary peripheral neuropathy, and often represent one of the first signs of the disease. Pes cavus in hereditary peripheral neuropathies is caused by imbalance between the intrinsic muscles of the foot and the muscles of the leg. Accurate clinical evaluation in patients with pes cavus is necessary to exclude or confirm the presence of peripheral neuropathy. Hereditary peripheral neuropathies should be suspected in those cases with bilateral foot deformities, in the presence of family history for pes cavus and/or gait impairment, and in the presence of neurological symptoms or signs, such as distal muscle hypotrophy of limbs. Herein, we review the hereditary peripheral neuropathies in which pes cavus plays a key role as a "spy sign," discussing the clinical and molecular features of these disorders to highlight the importance of pes cavus as a helpful clinical sign in these rare diseases.

  11. Hearing aid fitting results in a case of a patient with auditory neuropathy

    Directory of Open Access Journals (Sweden)

    Dell´Aringa, Ana Helena Bannwart

    2009-03-01

    Full Text Available Introduction: The Auditory Neuropathy is described recently as a hearing loss characterized by the preservation of outer hair cells and absence of auditory brainstem responses. Objective: To present a case report of hearing aid fitting in a patient with Auditory Neuropathy. Case Report: S.A.P., male, 32 years old, sought the Otorhinolaryngology Service after five years of Guillain-Barré syndrome, complaining of progressive and bilateral tinnitus auditory loss in both ears. The audiological evaluation resulted in: severe sensorioneural hearing deficiency with bilateral irregular configuration; speech recognition rate of 0% and speech detection rate in 35dB in both ears; type A tympanometric curve and absent ipsilateral, bilateral and contralateral reflexes; absence of waves and presence of cochlear microphonics in both ears in the auditory evoked potential and present bilateral distortion product-evoked otoacoustic emissions. The speech perception test was performed with polysyllabic words and lip reading, and presented 44% of hit with hearing aid and 12% without it. Final Comments: Despite the differences in the process of hearing aid habilitation and rehabilitation, we conclude that sound amplification brought benefits to the patient with auditory neuropathy.

  12. Nutritional Optic Neuropathy Caused by Copper Deficiency After Bariatric Surgery.

    Science.gov (United States)

    Rapoport, Yuna; Lavin, Patrick J M

    2016-06-01

    A 47-year-old woman developed severe bilateral visual loss 4 years after a Roux-en-Y gastric bypass and 24 years after vertical banded gastroplasty. Her serum copper level was 35 μg/dL (normal, 80-155 μg/dL). She was prescribed elemental copper tablets. Because her methylmalonic acid was slightly elevated, she received vitamin B12 injections as well. Five weeks later, she reported that her vision had improved and, at 10 months, her vision had recovered from 20/400 bilaterally to 20/25 in each eye. This case highlights the importance of checking copper levels in addition to the "more routine" vitamin levels, such as B1, B6, B12, E, and serum folate in patients with suspected nutritional optic neuropathy after bariatric surgery, particularly if it involved a bypass procedure. PMID:26828841

  13. Visual loss related to macular subretinal fluid and cystoid macular edema in HIV-related optic neuropathy

    DEFF Research Database (Denmark)

    Gautier, David; Rabier, Valérie; Jallet, Ghislaine;

    2012-01-01

    Optic nerve involvement may occur in various infectious diseases, but is rarely reported after infection by the human immunodeficiency virus (HIV). We report the atypical case of a 38-year-old patient in whom the presenting features of HIV infection were due to a bilateral optic neuropathy associ...... associated with macular subretinal fluid and cystoid macular edema, which responded well to antiretroviral therapy....

  14. Peripheral neuropathy: the importance of rare subtypes

    Science.gov (United States)

    Callaghan, Brian C.; Price, Ray S.; Chen, Kevin S.; Feldman, Eva L.

    2016-01-01

    Importance Peripheral neuropathy is a prevalent condition that usually warrants a thorough history and examination, but limited diagnostic evaluation. Rare localizations of peripheral neuropathy, however, often require more extensive diagnostic testing and different treatments. Objective To describe rare localizations of peripheral neuropathy, including the appropriate diagnostic evaluation and available treatments. Evidence Review References were identified from PubMed searches with an emphasis on systematic reviews and randomized clinical trials. Articles were also identified through the use of the author's own files. Search terms included common rare neuropathy localizations and their causes, as well as epidemiology, pathophysiology, diagnosis, and treatment. Findings Diffuse, non-length dependent neuropathies, multiple mononeuropathies, polyradiculopathies, plexopathies, and radiculoplexus neuropathies are rare peripheral neuropathy localizations that often require extensive diagnostic testing. Atypical neuropathy features, such as acute/subacute onset, asymmetry, and/or motor predominant signs, are frequently present. The most common diffuse, non-length dependent neuropathies are Guillain-Barre syndrome (GBS), chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN), and amyotrophic lateral sclerosis (ALS). Effective disease modifying therapies exist for many diffuse, non-length dependent neuropathies including GBS, CIDP, MMN, and some paraprotein-associated demyelinating neuropathies. Vasculitic neuropathy (multiple mononeuropathy) also has efficacious treatment options, but definitive evidence of a treatment effect for IgM anti-MAG neuropathy and diabetic amyoptrophy (radiculoplexus neuropathy) is lacking. Conclusions and Relevance Recognition of rare localizations of periperhal neuropathy is essential given the implications for diagnostic testing and treatment. Electrodiagnostic studies are an important early step in the

  15. An update on electrophysiological studies in neuropathy

    DEFF Research Database (Denmark)

    Krarup, Christian

    2003-01-01

    The review concentrates on the use of clinical neurophysiology in peripheral nerve disorders covered in the present issue. It is pertinent to distinguish different types of involvement of fibers in diabetic neuropathy, including the involvement of small and large fibers, to outline the diagnostic...... criteria of inflammatory neuropathies, and to describe the spectrum of peripheral nerve pathophysiology in inherited neuropathies. Painful neuropathies represent a particular challenge to clinical neurophysiology since it is mainly small fibers, which are difficult to study, that are affected....

  16. Entrapment neuropathies in diabetes mellitus

    Science.gov (United States)

    Rota, Eugenia; Morelli, Nicola

    2016-01-01

    Neuropathy is a common complication of diabetes mellitus (DM) with a wide clinical spectrum that encompasses generalized to focal and multifocal forms. Entrapment neuropathies (EN), which are focal forms, are so frequent at any stage of the diabetic disease, that they may be considered a neurophysiological hallmark of peripheral nerve involvement in DM. Indeed, EN may be the earliest neurophysiological abnormalities in DM, particularly in the upper limbs, even in the absence of a generalized polyneuropathy, or it may be superimposed on a generalized diabetic neuropathy. This remarkable frequency of EN in diabetes is underlain by a peculiar pathophysiological background. Due to the metabolic alterations consequent to abnormal glucose metabolism, the peripheral nerves show both functional impairment and structural changes, even in the preclinical stage, making them more prone to entrapment in anatomically constrained channels. This review discusses the most common and relevant EN encountered in diabetic patient in their epidemiological, pathophysiological and diagnostic features. PMID:27660694

  17. Entrapment neuropathies in diabetes mellitus.

    Science.gov (United States)

    Rota, Eugenia; Morelli, Nicola

    2016-09-15

    Neuropathy is a common complication of diabetes mellitus (DM) with a wide clinical spectrum that encompasses generalized to focal and multifocal forms. Entrapment neuropathies (EN), which are focal forms, are so frequent at any stage of the diabetic disease, that they may be considered a neurophysiological hallmark of peripheral nerve involvement in DM. Indeed, EN may be the earliest neurophysiological abnormalities in DM, particularly in the upper limbs, even in the absence of a generalized polyneuropathy, or it may be superimposed on a generalized diabetic neuropathy. This remarkable frequency of EN in diabetes is underlain by a peculiar pathophysiological background. Due to the metabolic alterations consequent to abnormal glucose metabolism, the peripheral nerves show both functional impairment and structural changes, even in the preclinical stage, making them more prone to entrapment in anatomically constrained channels. This review discusses the most common and relevant EN encountered in diabetic patient in their epidemiological, pathophysiological and diagnostic features. PMID:27660694

  18. Peripheral neuropathy and antiretroviral drugs.

    Science.gov (United States)

    Dalakas, M C

    2001-03-01

    Patients treated with nucleoside analogue reverse transcriptase inhibitors (NRTIs) develop a varying degree of myopathy or neuropathy after long-term therapy. Zidovudine (AZT) causes myopathy; zalcitabine (ddC), didanosine (ddl) and lamuvidine (3TC) cause neuropathy; stavudine (d4T) and fialuridine (FIAU) cause neuropathy or myopathy and lactic acidosis. The tissue distribution of phosphorylases responsible for phosphorylation of NRTIs relates to their selective tissue toxicity. The myopathy is characterized by muscle wasting, myalgia, fatigue, weakness and elevation of CK. The neuropathy is painful, sensory and axonal. In vitro, NRTIs inhibit the gamma-DNA polymerase, responsible for replication of mtDNA, and cause mtDNA dysfunction. In vivo, patients treated with AZT, the best studied NRTI, develop a mitochondrial myopathy with mtDNA depletion, deficiency of COX (complex IV), intracellular fat accumulation, high lactate production and marked phosphocreatine depletion, as determined with in vivo MRS spectroscopy, due to impaired oxidative phosphorylation. Animals or cultured cells treated with NRTIs develop neuropathy, myopathy, or cell destruction with similar changes in the mitochondria. There is evidence that the NRTI-related neuropathy is also due to mitochondrial toxicity. The NRTIs (AZT, ddC, ddl, d4T, 3TC) contain azido groups that compete with natural thymidine triphosphate as substrates of DNA pol-gamma and terminate mtDNA synthesis. In contrast, FIAU that contains 3'-OH groups serves as an alternate substrate for thymidine triphosphate with DNA pol-gamma and is incorporated into the DNA causing permanent mtDNA dysfunction. The NRTI-induced mitochondrial dysfunction has an influence on the clinical application of these agents, especially at high doses and when combined. They have produced in humans a new category of acquired mitochondrial toxins that cause clinical manifestations resembling the genetic mitochondrial disorders.

  19. [Designation criteria for Leber's hereditary optic neuropathy].

    Science.gov (United States)

    Nakamura, Makoto; Mimura, Osamu; Wakakura, Masato; Inatani, Masaru; Nakazawa, Toru; Shiraga, Fumio

    2015-05-01

    Designation criteria for Leber's hereditary optic neuropathy (LHON) have been established by a working group for retino-choroidal and optic atrophy funded by the Ministry of Health, Labor, and Welfare (MHLW) of Japan in collaboration with the Japanese Neuro-ophthalmology Society. The criteria are composed of three major symptoms and three ancillary test findings. According to the number and the combination of these symptoms and findings, subjects are classified into definite, probable, and possible LHON cases and asymptomatic carriers. The major symptoms include bilateral involvement with a time-lag, a papillomacular bundle atrophy, both characteristic optic disc findings at the acute phase. In the ancillary testings, mitochondrial DNA mutations specific for LHON are detailed with a table listing the mutation loci being attached. To enhance readers' understanding of description of the major symptoms and ancillary test findings, explanatory remarks on 11 parameters are supplemented. The establishment of the criteria facilitates epidemiological survey of LHON by MHLW and contributes to improvement of welfare for patients with LHON in Japan.

  20. Visual Functions and TraceElement Metabolism in Tobacco-toxic Optic Neuropathy

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    Visual functions and nutrition metabolic characteristics werestudied in 8 subjects(16 eyes)with tobacco-toxic optic neuropathy(TTON).Their visual functions tested by psychophysical and electrophysiologicmethods showed that:1.central vision diminished in 16 eyes,2.dyschromatopsias were found in 14 tested eyes,3.bilateral symmetricalcentral or cecocentral scotomas were the visual field characteristics in allcases,4.PVEP were severe abnormal in 3 spatial frequencies in all cases and56.3% of 15' checkboard ...

  1. Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients

    OpenAIRE

    Dimitriadis, Konstantin; Leonhardt, Miriam; Yu-Wai-Man, Patrick; Kirkman, Matthew Anthony; Korsten, Alex; De Coo, Irenaeus F; Chinnery, Patrick Francis; Klopstock, Thomas

    2014-01-01

    Background: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. Here we describe the clinical and molecular characteristics of 20 patients with disease onset after the age of 50 years (late onset-LHON). Methods: From a cohort of 251 affected and 277 unaffected LHON carriers, we identified 20 patients with onset of visual loss after the age of 50 years. Using structured questionnaires, data including basic demographic de...

  2. Profound and persistent painful paclitaxel peripheral neuropathy in a premenopausal patient.

    LENUS (Irish Health Repository)

    Quintyne, K I

    2011-01-01

    The authors herein report the case of a 35-year-old woman undergoing adjuvant therapy for node positive breast cancer, who presented with short and rapidly progressive history of bilateral lower limb symptoms of peripheral neuropathy following therapy with paclitaxel. MRI of her neural axis revealed no leptomeningeal enhancement or focal metastatic lesions. Neurophysiological tests favoured toxic sensory axonal polyneuropathy. She remains symptomatic following discontinuation of therapy 20 months ago, and is under review with pain management.

  3. Inflammation: therapeutic targets for diabetic neuropathy.

    Science.gov (United States)

    Zhou, Jiyin; Zhou, Shiwen

    2014-02-01

    There are still no approved treatments for the prevention or of cure of diabetic neuropathy, and only symptomatic pain therapies of variable efficacy are available. Inflammation is a cardinal pathogenic mechanism of diabetic neuropathy. The relationships between inflammation and the development of diabetic neuropathy involve complex molecular networks and processes. Herein, we review the key inflammatory molecules (inflammatory cytokines, adhesion molecules, chemokines) and pathways (nuclear factor kappa B, JUN N-terminal kinase) implicated in the development and progression of diabetic neuropathy. Advances in the understanding of the roles of these key inflammatory molecules and pathways in diabetic neuropathy will facilitate the discovery of the potential of anti-inflammatory approaches for the inhibition of the development of neuropathy. Specifically, many anti-inflammatory drugs significantly inhibit the development of different aspects of diabetic neuropathy in animal models and clinical trials.

  4. DNA testing in hereditary neuropathies.

    LENUS (Irish Health Repository)

    Murphy, Sinéad M

    2013-01-01

    The inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances in the last two decades. Molecular genetic testing is now an integral part of the evaluation of patients with inherited neuropathies. In this chapter we describe the genes responsible for the primary inherited neuropathies. We briefly discuss the clinical phenotype of each of the known inherited neuropathy subgroups, describe algorithms for molecular genetic testing of affected patients and discuss genetic counseling. The basic principles of careful phenotyping, documenting an accurate family history, and testing the available genes in an appropriate manner should identify the vast majority of individuals with CMT1 and many of those with CMT2. In this chapter we also describe the current methods of genetic testing. As advances are made in molecular genetic technologies and improvements are made in bioinformatics, it is likely that the current time-consuming methods of DNA sequencing will give way to quicker and more efficient high-throughput methods, which are briefly discussed here.

  5. Early onset (childhood) monogenic neuropathies.

    Science.gov (United States)

    Landrieu, Pierre; Baets, Jonathan

    2013-01-01

    Hereditary neuropathies (HN) with onset in childhood are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission and, in selected cases, pathological findings. Especially relevant to pediatrics are the items "secondary" versus "primary" neuropathy, "syndromic versus nonsyndromic," and "period of life." Different combinations of these parameters frequently point toward specific monogenic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first concern in pediatrics. As a rule, metabolic diseases include additional, orienting symptoms or signs, and their biochemical diagnosis is based on logical algorithms. Primary, motor sensory are the most frequent HN and are dominated by demyelinating autosomal dominant (AD) forms (CMT1). Other forms include demyelinating autosomal recessive (AR) forms, axonal AD/AR forms, and forms with "intermediate" electrophysiological phenotype. Peripheral motor neuron disorders are dominated by AR SMN-linked spinal muscular atrophies. (Distal) hereditary motor neuropathies represent 40 genes with various biological functions have been found to be responsible for primary HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait, and some for various types of transmission.

  6. Hereditary sensory neuropathy type I

    Directory of Open Access Journals (Sweden)

    Auer-Grumbach Michaela

    2008-03-01

    Full Text Available Abstract Hereditary sensory neuropathy type I (HSN I is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7 identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN, especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra

  7. Pregnancy following bilateral salpingectomy

    DEFF Research Database (Denmark)

    Oturai, Annette Bang

    2008-01-01

    This report presents a rare case of spontaneous pregnancy following bilateral salpingectomy. A woman with a history of bilateral salpingectomy was admitted to hospital because of abdominal pain and positive urine HCG. Surprisingly, ultrasound confirmed a live intrauterine fetus. The pregnancy...... was unwanted, and the woman decided to terminate the pregnancy. She was offered diagnostic examination to localise a potential fistula, but she declined. In a MEDLINE search of English literature this is only the second case of spontaneous pregnancy following bilateral salpingectomy Udgivelsesdato: 2008/4/21...

  8. [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].

    Science.gov (United States)

    Takashima, Hiroshi

    2014-01-01

    Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diagnosis is often needed to make a clinical diagnosis accurately, enable genetic counseling of the patient and understanding of their molecular mechanisms. To identify the mutation in each patient, using a high-throughput NGS, we established a diagnostic procedure involving screening of disease causing genes in CMT, HMN or HSAN.

  9. Evaluation and Prevention of Diabetic Neuropathy

    Directory of Open Access Journals (Sweden)

    Pajouhi M

    2007-07-01

    Full Text Available Background: Diabetic neuropathy is an incapacitating disease that afflicts almost 50 percent of patients with diabetes. A late finding in type 1 diabetes, diabetic neuropathy can be an early finding in non insulin-dependent diabetes. Diabetic neuropathies are divided primarily into two groups, sensorimotor and autonomic. Patients may acquire only one type of diabetic neuropathy or may present with combinations of neuropathies, such as autonomic neuropathy or distal symmetric polyneuropathy, the latter of which the most common form. Motor deficits, orthostatic hypotension, silent cardiac ischemia, hyperhidrosis, vasomotor instability, gastroparesis, bladder dysfunction, and sexual dysfunction can also result from diabetic neuropathy. Strict control of blood sugar, combined with proper daily foot care, is essential to avoid the complications of this disorder. With the potential to afflict any part of the nervous system, diabetic neuropathy should be suspected in all patients with type 2 diabetes as well as patients who have had type 1 diabetes for over five years. Although some patients with diabetic neuropathy notice few symptoms, upon physical examination mild to moderately severe sensory loss may be noted by the physician. Idiopathic neuropathy has been known to precede the onset of type 2 diabetes.

  10. Bilateral Primary Intraocular Lymphoma

    OpenAIRE

    Mehrdad Karimi; Masoud Soheilian; Mozhgan Rezaei Kanavi

    2011-01-01

    Purpose: To report a case of bilateral primary intraocular lymphoma. Case report: A 33-year-old man presented with bilateral blurred vision since two years ago. Examination revealed large keratic precipitates, anterior chamber reaction, posterior subcapsular cataracts, and vitreous infiltration. After a short trial of topical and periocular steroids, diagnostic 25-gauge pars plana vitrectomy was performed and cytologic evaluation of the aspirate confirmed a diagnosis of intraocular lympho...

  11. Genetics Home Reference: distal hereditary motor neuropathy, type V

    Science.gov (United States)

    ... neuropathy, type V distal hereditary motor neuropathy, type V Enable Javascript to view the expand/collapse boxes. ... Close All Description Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells ...

  12. Genetics Home Reference: hereditary sensory neuropathy type IA

    Science.gov (United States)

    ... Health Conditions hereditary sensory neuropathy type IA hereditary sensory neuropathy type IA Enable Javascript to view the ... Download PDF Open All Close All Description Hereditary sensory neuropathy type IA is a condition characterized by ...

  13. Neuropathies optiques héréditaires

    DEFF Research Database (Denmark)

    Milea, D; Verny, C

    2012-01-01

    Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy...

  14. Cardiovascular autonomic neuropathy in diabetes

    DEFF Research Database (Denmark)

    Spallone, Vincenza; Ziegler, Dan; Freeman, Roy;

    2011-01-01

    Cardiovascular Autonomic Neuropathy (CAN) Subcommittee of Toronto Consensus Panel on Diabetic Neuropathy worked to update CAN guidelines, with regard to epidemiology, clinical impact, diagnosis, usefulness of CAN testing, and management. CAN is the impairment of cardiovascular autonomic control...... in the setting of diabetes after exclusion of other causes. The prevalence of confirmed CAN is around 20%, and increases up to 65% with age and diabetes duration. Established risk factors for CAN are glycaemic control in type 1 and a combination of hypertension, dyslipidemia, obesity and glycaemic control...... in type 2 diabetes. CAN is a risk marker of mortality and cardiovascular morbidity, and possibly a progression promoter of diabetic nephropathy. Criteria for CAN diagnosis and staging are: 1. one abnormal cardio-vagal test identifies possible or early CAN; 2. at least two abnormal cardio-vagal tests...

  15. Treatment of gastrointestinal autonomic neuropathy.

    Science.gov (United States)

    Törnblom, Hans

    2016-03-01

    The symptoms caused by gastrointestinal autonomic neuropathy in diabetes mellitus is important to highlight since it affects a large proportion of people with diabetes, regardless of whether this is type 1 or type 2. Gastroparesis and general signs of bowel dysfunction, such as constipation, diarrhoea and abdominal pain are most often encountered and involve both pharmacological and non-pharmacological treatment options. This mini-review summarises a presentation given at the 'Diagnosis and treatment of autonomic diabetic neuropathy in the gut' symposium at the 2015 annual meeting of the EASD. It is accompanied by another mini-review on a topic from this symposium (by Azpiroz and Malagelada, DOI: 10.1007/s00125-015-3831-1 ) and a commentary by the Session Chair, Péter Kempler (DOI: 10.1007/s00125-015-3826-y ). PMID:26634570

  16. Uremic Neuropathy: Epiemiological Study in Hemodialysis Patients

    OpenAIRE

    Ricci, Davide

    2012-01-01

    Background/Aims. Uremic Neuropathy (UN) highly limits the individual self-sufficiency causing near-continuous pain. An estimation of the actual UN prevalence among hemodialysis patients was the aim of the present work. Methods. We studied 225 prevalent dialysis patients from two Italian Centres. The Michigan Neuropathy Score Instrument (MNSI), already validated in diabetic neuropathy, was used for the diagnosis of UN. It consisted of a questionnaire (MNSI_Q) and a physical-clinical evaluat...

  17. Dyslipidemia-Induced Neuropathy in Mice

    OpenAIRE

    Vincent, Andrea M.; Hayes, John M.; McLean, Lisa L.; Vivekanandan-Giri, Anuradha; Pennathur, Subramaniam; Eva L Feldman

    2009-01-01

    OBJECTIVE Neuropathy is a frequent and severe complication of diabetes. Multiple metabolic defects in type 2 diabetic patients result in oxidative injury of dorsal root ganglia (DRG) neurons. Our previous work focused on hyperglycemia clearly demonstrates induction of mitochondrial oxidative stress and acute injury in DRG neurons; however, this mechanism is not the only factor that produces neuropathy in vivo. Dyslipidemia also correlates with the development of neuropathy, even in pre-diabet...

  18. Treatment of chronic inflammatory neuropathies

    OpenAIRE

    Schaik, van, I.N.; Eftimov, F.

    2015-01-01

    This thesis focuses on the efficacy of existing and alternative treatments in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN) and explores predictors of treatment response in patients with CIDP treated with corticosteroids. The efficacy of intravenous immunoglobulin (IVIg) in CIDP and MMN was confirmed in meta-analyses. In CIDP, IVIg efficacy was similar to the efficacy of plasma exchange, prednisolone and intravenous methylprednisolone. ...

  19. Treatment of painful diabetic neuropathy

    OpenAIRE

    Javed, Saad; Petropoulos, Ioannis N.; Alam, Uazman; Malik, Rayaz A.

    2015-01-01

    Painful diabetic neuropathy (PDN) is a debilitating consequence of diabetes that may be present in as many as one in five patients with diabetes. The objective assessment of PDN is difficult, making it challenging to diagnose and assess in both clinical practice and clinical trials. No single treatment exists to prevent or reverse neuropathic changes or to provide total pain relief. Treatment of PDN is based on three major approaches: intensive glycaemic control and risk factor management, tr...

  20. Cranial Neuropathy in Multiple Sclerosis

    OpenAIRE

    Mine Hayriye Sorgun; Bilge Koçer; Funda Kaplan; Nesrin Yılmaz; Nezih Yücemen; Canan Yücesan

    2011-01-01

    OBJECTIVE: It has been reported that cranial neuropathy findings could be seen in the neurologic examination of multiple sclerosis (MS) patients, although brain magnetic resonance imaging (MRI) may not reveal any lesion responsible for the cranial nerve involvement. The aim of this study was to determine the frequency of brainstem and cranial nerve involvement, except for olfactory and optic nerves, during MS attacks, and to investigate the rate of an available explanation for the cranial neu...

  1. Imaging of neuropathies about the hip

    Energy Technology Data Exchange (ETDEWEB)

    Martinoli, Carlo, E-mail: carlo.martinoli@unige.it [Radiologia – DISC, Università di Genova, Largo Rosanna Benzi 8, I-16132 Genoa (Italy); Miguel-Perez, Maribel [Unit of Human Anatomy and Embryology, Department of Pathology and Experimental Therapy, Faculty of Medicine (C Bellvitge), University of Barcelona, Barcelona (Spain); Padua, Luca [Fondazione Don Gnocchi Onlus and Department of Neurology, Policlinico “A. Gemelli”, Università Cattolica del Sacro Cuore, Rome (Italy); Gandolfo, Nicola [IM2S – Institut Monégasque de Médecine and Chirurgie Sportive, Montecarlo (Monaco); Zicca, Anna [Radiologia – DISC, Università di Genova, Largo Rosanna Benzi 8, I-16132 Genoa (Italy); Tagliafico, Alberto [Radiologia – National Institute for Cancer Research, Genoa (Italy)

    2013-01-15

    Neuropathies about the hip may be cause of chronic pain and disability. In most cases, these conditions derive from mechanical or dynamic compression of a segment of a nerve within a narrow osteofibrous tunnel, an opening in a fibrous structure, or a passageway close to a ligament or a muscle. Although the evaluation of nerve disorders primarily relies on neurological examination and electrophysiology, diagnostic imaging is currently used as a complement to help define the site and aetiology of nerve compression and exclude other disease possibly underlying the patient’ symptoms. Diagnosis of entrapment neuropathies about the hip with US and MR imaging requires an in-depth knowledge of the normal imaging anatomy and awareness of the anatomic and pathologic factors that may predispose or cause a nerve injury. Accordingly, the aim of this article is to provide a comprehensive review of hip neuropathies with an emphasis on the relevant anatomy, aetiology, clinical presentation, and their imaging appearance. The lateral femoral cutaneous neuropathy (meiralgia paresthetica), femoral neuropathy, sciatic neuropathy, obturator neuropathy, superior and inferior gluteal neuropathies and pudendal neuropathy will be discussed.

  2. Axonal loss and neuroprotection in optic neuropathies.

    Science.gov (United States)

    Levin, Leonard A

    2007-06-01

    Most optic neuropathies do not have effective treatments. Examples are ischemic optic neuropathy, Leber hereditary optic neuropathy, optic neuritis, and traumatic optic neuropathy. In some cases, the pathophysiology of the optic nerve injury is not fully understood. For example, while the demyelinative aspects of optic neuritis have been studied, the mechanism by which the axonal loss occurs is less apparent. In other cases, although the pathophysiology of the optic neuropathy may be understood, there is difficulty treating the disease, for example, with traumatic optic neuropathy. In response to this therapeutic dearth, the concept of neuroprotection has arisen. Neuroprotection is a therapeutic paradigm for preventing death of neurons from injury and maintaining function. In optic neuropathies, the corresponding neuron is the retinal ganglion cell. These cells are unable to divide, and optic neuropathies irrevocably result in their death; therefore, the primary target of neuroprotection are retinal ganglion cells and their axons. This review emphasizes that most optic neuropathies are axonal and thus good targets for neuroprotection. PMID:17508035

  3. Imaging of neuropathies about the hip

    International Nuclear Information System (INIS)

    Neuropathies about the hip may be cause of chronic pain and disability. In most cases, these conditions derive from mechanical or dynamic compression of a segment of a nerve within a narrow osteofibrous tunnel, an opening in a fibrous structure, or a passageway close to a ligament or a muscle. Although the evaluation of nerve disorders primarily relies on neurological examination and electrophysiology, diagnostic imaging is currently used as a complement to help define the site and aetiology of nerve compression and exclude other disease possibly underlying the patient’ symptoms. Diagnosis of entrapment neuropathies about the hip with US and MR imaging requires an in-depth knowledge of the normal imaging anatomy and awareness of the anatomic and pathologic factors that may predispose or cause a nerve injury. Accordingly, the aim of this article is to provide a comprehensive review of hip neuropathies with an emphasis on the relevant anatomy, aetiology, clinical presentation, and their imaging appearance. The lateral femoral cutaneous neuropathy (meiralgia paresthetica), femoral neuropathy, sciatic neuropathy, obturator neuropathy, superior and inferior gluteal neuropathies and pudendal neuropathy will be discussed

  4. Escleritis posterior bilateral Bilateral posterior scleritis

    Directory of Open Access Journals (Sweden)

    A. Zurutuza

    2011-08-01

    Full Text Available La escleritis posterior es un proceso inflamatorio de la parte posterior de la esclera. Su prevalencia es muy baja y el diagnóstico puede resultar complicado por la ausencia de signos oculares externos. Es más frecuente en mujeres. Cuando aparece en pacientes jóvenes no suele tener otras patologías asociadas, pero en mayores de 55 años hasta un tercio de los casos tienen relación con alguna enfermedad sistémica, sobre todo la artritis reumatoide. El diagnóstico de esta patología puede requerir un abordaje multidisciplinar y la colaboración de oftalmólogos con neurólogos, internistas o reumatólogos. En este artículo se describe un caso de escleritis posterior bilateral idiopática.Posterior scleritis is an inflammatory process of the posterior part of the sclera. Its prevalence is very low and its diagnosis can be complicated due to the absence of external ocular signs. It is more frequent in women. In young patients it does not usually have other associated pathologies, but in those over 55 years nearly one-third of the cases have a relation with some systemic disease, above all rheumatoid arthritis. The diagnosis of this pathology can require a multidisciplinary approach and the collaboration of ophthalmologists with neurologists, internists or rheumatologists. This article describes a case of idiopathic bilateral posterior scleritis.

  5. Bilateral inferior turbinate osteoma

    Science.gov (United States)

    Sahemey, R.; Warfield, A.T.; Ahmed, S.

    2016-01-01

    Osteomas are the most common benign osteoclastic tumours of the paranasal sinuses. However, nasal cavity and turbinate osteomas are extremely rare. Only nine middle turbinate, three inferior turbinate and one inferior turbinate osteoma cases have been reported to date. The present case report describes the management and follow-up of symptomatic bilateral inferior turbinate osteoma. A 60-year-old female presented with symptoms of bilateral nasal obstruction and right-sided epiphora. Radiological investigation found hypertrophic bony changes involving both inferior turbinates. The patient was managed successfully by endoscopic inferior turbinectomies in order to achieve a patent airway, with no further recurrence of tumour after 3 months postoperatively. To the best of our knowledge, this is the first reported case of bilateral inferior turbinate osteoma. We describe a safe and minimally invasive method of tumour resection, which has a better cosmetic outcome compared with other approaches. PMID:27534890

  6. Bilateral Primary Intraocular Lymphoma

    Directory of Open Access Journals (Sweden)

    Mehrdad Karimi

    2011-01-01

    Full Text Available Purpose: To report a case of bilateral primary intraocular lymphoma. Case report: A 33-year-old man presented with bilateral blurred vision since two years ago. Examination revealed large keratic precipitates, anterior chamber reaction, posterior subcapsular cataracts, and vitreous infiltration. After a short trial of topical and periocular steroids, diagnostic 25-gauge pars plana vitrectomy was performed and cytologic evaluation of the aspirate confirmed a diagnosis of intraocular lymphoma. The patient was subsequently managed with intravitreal methotrexate in both eyes and responded favorably. Central nervous system workup for lymphoma was negative. Conclusion: Primary intraocular lymphoma should be considered in young adults suffering from chronic recalcitrant panuveitis.

  7. BILATERAL IMMATURE OVARIAN TERATOMA

    OpenAIRE

    Vinay; Aditya Pratap; Chetan; Ramesh; Rajlaxmi Jaysing

    2014-01-01

    : Immature teratoma (IMT) is tumor composed of tissues from ectoderm, mesoderm and endoderm and is considered the second most common germ cell tumor. IMT account for 10-20% of all ovarian neoplasias in women less than 20 years of age, with peak incidence between 15 and 19 years old. IMT rarely occurs during menopause. We herein reporting a rare case in a 3 years old girl with bilateral immature ovarian teratoma which is very rare in bilateralism of tumor as well as the fac...

  8. BILATERAL IMMATURE OVARIAN TERATOMA

    Directory of Open Access Journals (Sweden)

    Vinay

    2014-10-01

    Full Text Available : Immature teratoma (IMT is tumor composed of tissues from ectoderm, mesoderm and endoderm and is considered the second most common germ cell tumor. IMT account for 10-20% of all ovarian neoplasias in women less than 20 years of age, with peak incidence between 15 and 19 years old. IMT rarely occurs during menopause. We herein reporting a rare case in a 3 years old girl with bilateral immature ovarian teratoma which is very rare in bilateralism of tumor as well as the fact that the patient age is below the average for the occurrence of these tumors.

  9. Bilateral endogenous fungal endophthalmitis

    OpenAIRE

    Michal, Wilczynski; Olena, Wilczynska; Wojciech, Omulecki

    2013-01-01

    Endogenous endophthalmitis is a rare and severe intraocular infection which can be vision-threatening. We describe a case of bilateral fungal endogenous endophthalmitis in a 64-year-old male which was successfully treated with systemic administration of fluconazole followed by pars plana vitrectomy with an intravitreous injection of amphotericin B.

  10. Bilateral akillesseneruptur hos nyretransplanterede

    DEFF Research Database (Denmark)

    Skovgaard, D; Feldt-Rasmussen, B F; Nimb, L;

    1996-01-01

    Increased incidence of tendinitis and tendon ruptures is reported in recipients of a kidney transplant. Two cases of bilateral achilles tendon rupture after minimal trauma are described. Tendon ruptures are more frequent in individuals with kidney disease in dialysis or after transplantation comp...

  11. Bilateral chronic subdural hematoma

    DEFF Research Database (Denmark)

    Andersen-Ranberg, Nina Christine; Poulsen, Frantz Rom; Bergholt, Bo;

    2016-01-01

    ) surgery. The overall retreatment rate was 21.6% (57 of 264 patients). Cases treated with unilateral surgery had twice the risk of retreatment compared with cases undergoing bilateral surgery (28.7% vs 14.1%, respectively, p = 0.002). In accordance with previous studies, the data also showed...

  12. Bilateral meandering pulmonary veins

    Energy Technology Data Exchange (ETDEWEB)

    Thupili, Chakradhar R.; Udayasankar, Unni [Pediatric Imaging, Imaging Institute Cleveland Clinic, Cleveland, OH (United States); Renapurkar, Rahul [Imaging Institute Cleveland Clinic, Thoracic Imaging, L10, Cleveland, OH (United States)

    2015-06-15

    Meandering pulmonary veins is a rare clinical entity that can be mistaken for more complex congenital syndromes such as hypogenetic lung syndrome. We report imaging findings in a rare incidentally detected case of bilateral meandering pulmonary veins. We briefly discuss the role of imaging in diagnosing this condition, with particular emphasis on contrast-enhanced CT. (orig.)

  13. Penicillamin-induced neuropathy in rheumatoid arthritis

    DEFF Research Database (Denmark)

    Pedersen, P B; Hogenhaven, H

    1990-01-01

    A case of penicillamin-induced severe polyradiculopathy in rheumatoid arthritis is presented. The neuropathy was of demyelinating type, purely motor, proximal and clinically fully reversible when the drug ceased. In case of a progressive neuropathy, during penicillamin treatment, this adverse...

  14. Sensory neuropathy in two Border collie puppies.

    Science.gov (United States)

    Vermeersch, K; Van Ham, L; Braund, K G; Bhatti, S; Tshamala, M; Chiers, K; Schrauwen, E

    2005-06-01

    A peripheral sensory neuropathy was diagnosed in two Border collie puppies. Neurological, electrophysiological and histopathological examinations suggested a purely sensory neuropathy with mainly distal involvement. Urinary incontinence was observed in one of the puppies and histological examination of the vagus nerve revealed degenerative changes. An inherited disorder was suspected. PMID:15971901

  15. Demyelinating polyneuropathy in Leber hereditary optic neuropathy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Schelhaas, H.J.; Cruysberg, J.R.M.; Zwarts, M.J.

    2006-01-01

    We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his mitochondrial disorder could be found. The involvement of the peripheral nervous system of patients with LHON, in particular with a 11778 mtDNA, is di

  16. The pattern of muscle involvement in ulnar neuropathy at the elbow

    Directory of Open Access Journals (Sweden)

    Dariush Eliaspour

    2012-01-01

    Full Text Available Objective: To determine the pattern of muscle involvement in patients with ulnar neuropathy at the elbow. Materials and Methods: This study evaluated all patients referred for upper limb electrodiagnostic study (EDX during 2007-2011 and included. patients with clinical signs and symptoms of ulnar neuropathy at the elbow. All patients had nerve conduction studies (NCS for ulnar neuropathy. Needle electromyography (EMG of four ulnar innervated muscles, flexor carpi ulnaris (FCU, flexor digitrom profoundus (FDP, first dorsal interosseous (FDI and abductor digiti minimi (ADM was evaluated. Results: During the study period 34 (23 males and 11 females patients were diagnosed with ulnar neuropathy at the elbow and three of them had bilateral involvement. Muscle involvement by EMG was as follows: FDI: 91.9%, ADM: 91.3%, FCU: 64.9% and FDP: 56.8%. Conclusion: In this study, EMG abnormalities of nerve damage were presented more commonly in the FCU muscle than in the FDP in patients with ulnar nerve lesion at the elbow.

  17. The distal hereditary motor neuropathies.

    Science.gov (United States)

    Rossor, Alexander M; Kalmar, Bernadett; Greensmith, Linda; Reilly, Mary M

    2012-01-01

    The distal hereditary motor neuropathies (dHMN) comprise a heterogeneous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia. Eleven causative genes and four loci have been identified with autosomal dominant, recessive and X-linked patterns of inheritance. Despite advances in the identification of novel gene mutations, 80% of patients with dHMN have a mutation in an as-yet undiscovered gene. The causative genes have implicated proteins with diverse functions such as protein misfolding (HSPB1, HSPB8, BSCL2), RNA metabolism (IGHMBP2, SETX, GARS), axonal transport (HSPB1, DYNC1H1, DCTN1) and cation-channel dysfunction (ATP7A and TRPV4) in motor-nerve disease. This review will summarise the clinical features of the different subtypes of dHMN to help focus genetic testing for the practising clinician. It will also review the neuroscience that underpins our current understanding of how these mutations lead to a motor-specific neuropathy and highlight potential therapeutic strategies. An understanding of the functional consequences of gene mutations will become increasingly important with the advent of next-generation sequencing and the need to determine the pathogenicity of large amounts of individual genetic data.

  18. An Unusual Case of Neuralgic Amyotrophy Presenting with Bilateral Phrenic Nerve and Vocal Cord Paresis

    OpenAIRE

    Holtbernd, F.; Zehnhoff-Dinnesen, A. am; Duning, T.; Kemmling, A.; Ringelstein, E.B.

    2011-01-01

    Background Neuralgic amyotrophy (brachial plexus neuropathy, brachial plexus neuritis, or Parsonage-Turner syndrome) is an uncommon inflammatory condition typically characterized by acute and severe shoulder pain followed by paresis with muscle weakness and atrophy of the upper limb or shoulder girdle. We report an unusual clinical manifestation of neuralgic amyotrophy, namely bilateral phrenic nerve palsy with concomitant laryngeal paresis. Case Report A 55-year-old male presented with ortho...

  19. Neuronal involvement in cisplatin neuropathy

    DEFF Research Database (Denmark)

    Krarup-Hansen, A; Helweg-Larsen, Susanne Elisabeth; Schmalbruch, H;

    2007-01-01

    Although it is well known that cisplatin causes a sensory neuropathy, the primary site of involvement is not established. The clinical symptoms localized in a stocking-glove distribution may be explained by a length dependent neuronopathy or by a distal axonopathy. To study whether the whole neuron...... of large dorsal root ganglion cells. Motor conduction studies, autonomic function and warm and cold temperature sensation remained unchanged at all doses of cisplatin treatment. The results of these studies are consistent with degeneration of large sensory neurons whereas there was no evidence of distal...

  20. MR imaging of trigeminal neuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Si Yeon; Yoon, Pyeong Ho; Chung, Jin Il; Lee, Seung Ik; Kim, Dong Ik [Yonsei Univ. College of Medicine, Seoul (Korea, Republic of)

    2001-03-01

    The trigeminal nerve is the largest of the cranial nerves and has both sensory and motor functions. It can be divided into proximal (brainstem, preganglionic, gasserian ganglion, and cavernous sinus) and distal (extracranial opthalmic, maxillary, and mandibular) segments. Patients with trigeminal neuropathy present with a wide variety of symptoms, and lesions producing those symptoms may occur anywhere along the protracted course of the trigeminal nerve, from its distal facial branches to its nuclear columns in the brainstem. The purpose of this article is to illustrate the normal anatomy of the trigeminal nerve and associated various pathologic conditions. These are arranged anatomically according to their site of interaction with it.

  1. MR imaging of trigeminal neuropathy

    International Nuclear Information System (INIS)

    The trigeminal nerve is the largest of the cranial nerves and has both sensory and motor functions. It can be divided into proximal (brainstem, preganglionic, gasserian ganglion, and cavernous sinus) and distal (extracranial opthalmic, maxillary, and mandibular) segments. Patients with trigeminal neuropathy present with a wide variety of symptoms, and lesions producing those symptoms may occur anywhere along the protracted course of the trigeminal nerve, from its distal facial branches to its nuclear columns in the brainstem. The purpose of this article is to illustrate the normal anatomy of the trigeminal nerve and associated various pathologic conditions. These are arranged anatomically according to their site of interaction with it

  2. Autosomal recessive hereditary auditory neuropathy

    Institute of Scientific and Technical Information of China (English)

    王秋菊; 顾瑞; 曹菊阳

    2003-01-01

    Objectives: Auditory neuropathy (AN) is a sensorineural hearing disorder characterized by absent or abnormal auditory brainstem responses (ABRs) and normal cochlear outer hair cell function as measured by otoacoustic emissions (OAEs). Many risk factors are thought to be involved in its etiology and pathophysiology. Three Chinese pedigrees with familial AN are presented herein to demonstrate involvement of genetic factors in AN etiology. Methods: Probands of the above - mentioned pedigrees, who had been diagnosed with AN, were evaluated and followed up in the Department of Otolaryngology Head and Neck Surgery, China PLA General Hospital. Their family members were studied and the pedigree diagrams were established. History of illness, physical examination,pure tone audiometry, acoustic reflex, ABRs and transient evoked and distortion- product otoacoustic emissions (TEOAEs and DPOAEs) were obtained from members of these families. DPOAE changes under the influence of contralateral sound stimuli were observed by presenting a set of continuous white noise to the non - recording ear to exam the function of auditory efferent system. Some subjects received vestibular caloric test, computed tomography (CT)scan of the temporal bone and electrocardiography (ECG) to exclude other possible neuropathy disorders. Results: In most affected subjects, hearing loss of various degrees and speech discrimination difficulties started at 10 to16 years of age. Their audiological evaluation showed absence of acoustic reflex and ABRs. As expected in AN, these subjects exhibited near normal cochlear outer hair cell function as shown in TEOAE & DPOAE recordings. Pure- tone audiometry revealed hearing loss ranging from mild to severe in these patients. Autosomal recessive inheritance patterns were observed in the three families. In Pedigree Ⅰ and Ⅱ, two affected brothers were found respectively, while in pedigree Ⅲ, 2 sisters were affected. All the patients were otherwise normal without

  3. Muscular atrophy in diabetic neuropathy

    DEFF Research Database (Denmark)

    Andersen, H; Gadeberg, P C; Brock, B;

    1997-01-01

    Diabetic patients with polyneuropathy develop motor dysfunction. To establish whether motor dysfunction is associated with muscular atrophy the ankle dorsal and plantar flexors of the non-dominant leg were evaluated with magnetic resonance imaging in 8 patients with symptomatic neuropathy, in 8 non...... confirmed that the atrophy predominated distally. We conclude that muscular atrophy underlies motor weakness at the ankle in diabetic patients with polyneuropathy and that the atrophy is most pronounced in distal muscles of the lower leg indicating that a length dependent neuropathic process explains...

  4. [Hereditary optic neuropathies: clinical and molecular genetic characteristics].

    Science.gov (United States)

    Khanakova, N A; Sheremet, N L; Loginova, A N; Chukhrova, A L; Poliakov, A V

    2013-01-01

    The article presents a review of literature on hereditary optic neuropathies: Leber mitochondrial hereditary optic neuropathy, autosomal dominant and autosomal recessive optic neuropathies, X-linked optic atrophy. Clinical and molecular genetic characteristics are covered. Isolated optic neuropathies, as well as hereditary optic disorders, being a part of a complex syndromic disease are described.

  5. Autonomic neuropathy in diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Alberto eVerrotti

    2014-12-01

    Full Text Available Diabetic autonomic neuropathy (DAN is a serious and common complication of diabetes, often overlooked and misdiagnosed. It is a systemic-wide disorder that may be asymptomatic in the early stages. The most studied and clinically important form of DAN is cardiovascular autonomic neuropathy (CAN defined as the impairment of autonomic control of the cardiovascular system in patients with diabetes after exclusion of other causes. The reported prevalence of DAN varies widely depending on inconsistent definition, different diagnostic method, different patient cohorts studied. The pathogenesis is still unclear and probably multifactorial. Once DAN becomes clinically evident, no form of therapy has been identified which can effectively stop or reverse it. Prevention strategies are based on strict glycemic control with intensive insulin treatment, multifactorial intervention and lifestyle modification including control of hypertension, dyslipidemia, stop smoking, weight loss and adequate physical exercise. The present review summarizes the latest knowledge regarding clinical presentation, epidemiology, pathogenesis and management of DAN, with some mention to childhood and adolescent population.

  6. Recessively transmitted predominantly motor neuropathies.

    Science.gov (United States)

    Parman, Yeşim; Battaloğlu, Esra

    2013-01-01

    Recessively transmitted predominantly motor neuropathies are rare and show a severe phenotype. They are frequently observed in populations with a high rate of consanguineous marriages. At least 15 genes and six loci have been found to be associated with autosomal recessive CMT (AR-CMT) and X-linked CMT (AR-CMTX) and also distal hereditary motor neuronopathy (AR-dHMN). These disorders are genetically heterogeneous but the clinical phenotype is relatively homogeneous. Distal muscle weakness and atrophy predominating in the lower extremities, diminished or absent deep tendon reflexes, distal sensory loss, and pes cavus are the main clinical features of this disorder with occasional cranial nerve involvement. Although genetic diagnosis of some of subtypes of AR-CMT are now available, rapid advances in the molecular genetics and cell biology show a great complexity. Animal models for the most common subtypes of human AR-CMT disease provide clues for understanding the pathogenesis of CMT and also help to reveal possible treatment strategies of inherited neuropathies. This chapter highlights the clinical features and the recent genetic and biological findings in these disorders based on the current classification.

  7. Bilateral matrix-exponential distributions

    DEFF Research Database (Denmark)

    Bladt, Mogens; Esparza, Luz Judith R; Nielsen, Bo Friis

    2012-01-01

    In this article we define the classes of bilateral and multivariate bilateral matrix-exponential distributions. These distributions have support on the entire real space and have rational moment-generating functions. These distributions extend the class of bilateral phasetype distributions of [1]...

  8. Successful chemotherapy in a male patient with malignant lymphoma and Leber's hereditary optic neuropathy (LHON).

    Science.gov (United States)

    Zanssen, Stefanie; Buse, Gerhard

    2003-04-01

    Leber's hereditary optic neuropathy (LHON) is a bilateral subacute optic neuropathy caused by hereditary missense mutations of the mitochondrial genome. Primary mutations are located at nucleotide positions 11778, 3460, and 14484 in genes encoding subunits of complex I of the respiratory chain. It has been suggested that degenerative changes in the optic nerve might be mediated by apoptosis. Therefore, we hypothesized that patients affected with LHON might show altered sensitivity to cytotoxic drugs. Here we report the case of a LHON patient carrying the 11778 mutation who required chemotherapy for malignant lymphoma. Using in vitro assays, we found that the patient's peripheral blood mononuclear cells did not show altered vulnerability to cytotoxic drugs. The patient was treated with combination chemotherapy and consolidating radiotherapy, leading to complete remission without inappropriately severe acute or chronic side effects. These data indicate that the 11778 mutation does not change cellular response to cytotoxic drugs in a clinically apparent manner.

  9. [Spontaneous bilateral Petit hernia].

    Science.gov (United States)

    Fontoura, Rodrigo Dias; Araújo, Emerson Silveira de; Oliveira, Gustavo Alves de; Sarmenghi Filho, Deolindo; Kalil, Mitre

    2011-01-01

    Petit's lumbar hernia is an uncommon defect of the posterior abdominal wall that represents less than 1% of all abdominal wall hernias. It is more often unilateral and founded in young females, rarely containing a real herniated sac. There are two different approaches to repair: laparoscopy and open surgery. The goal of this article is to report one case of spontaneous bilateral lumbar Petit's hernia treated with open surgery.

  10. Bilateral intraocular dirofilariasis

    Directory of Open Access Journals (Sweden)

    Viney Gupta

    2014-01-01

    Full Text Available Ocular dirofilariasis mostly presents as a subconjunctival or eyelid lesion. [1] Intraocular dirofilarial infestation is rare. [2],[3] We report a case of a young woman who was accidentally detected to have a live motile worm in the anterior segment in one eye and a cystic lesion on the optic disc in the other eye. To our knowledge, bilateral intraocular dirofilariasis has never been reported.

  11. Endoscopic optic nerve decompression for nontraumatic compressive optic neuropathy

    Directory of Open Access Journals (Sweden)

    Cheng-long REN

    2015-11-01

    Full Text Available Objective To describe the preliminary experience with endoscopic optic nerve decompression (EOND for nontraumatic compressive optic neuropathies (NCONs. Methods The clinical data of 10 patients, male 5 and female 5, with a mean age of 44.3±5.1 years, who underwent EOND for visual loss (n=5 or visual deterioration (n=5 due to tumor compression in General Hospital of Armed Police Forces of China in the period from April 2013 to April 2014 were analyzed retrospectively. Preoperative and 6-month-postoperative clinical and imaging data of these patients were reviewed and analyzed. Results Among 5 patients who lost light perception (including 2 patients with bilateral optic nerve compression before operation, 4 of them showed visual improvement to different degrees on the 7th day after operation (with improvement of bilateral visual acuity. The other 5 patients with visual impairment before operation recovered their visual acuity to different extent after the operation. All of the patients had no obvious post-operative complications. Conclusion EOND is a safe, effective, and minimally invasive surgical technique affording recovery of visual function to NCON patients. DOI: 10.11855/j.issn.0577-7402.2015.11.12

  12. Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Barcella, Valeria; Rocca, Maria A; Bianchi-Marzoli, Stefania; Milesi, Jacopo; Melzi, Lisa; Falini, Andrea; Pierro, Luisa; Filippi, Massimo

    2010-12-01

    Patients with Leber's hereditary optic neuropathy (LHON) have loss of central vision with severe damage of small-caliber fibers of the papillomacular bundle and optic nerve atrophy. The aim of this study was to define the presence and topographical distribution of brain grey matter (GM) and white matter (WM) injury in LHON patients using voxel-based morphometry (VBM). The correlation of such changes with neuro-ophthalmologic findings and measurements of peripapillary retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT) was also assessed. Dual-echo and fast-field echo scans were acquired from 12 LHON patients and 12 matched controls. VBM analysis was performed using SPM5 and an ANCOVA model. A complete neuro-ophthalmologic examination, including standardized automated Humphrey perimetry as well as average and temporal peripapillary RNFL thickness measurements were obtained in all the patients. Compared with controls, average peripapillary RNFL thickness was significantly decreased in LHON patients. LHON patients also had significant reduced GM volume in the bilateral primary visual cortex, and reduced WM volume in the optic chiasm, optic tract, and several areas located in the optic radiations (OR), bilaterally. Visual cortex and OR atrophy were significantly correlated with average and temporal peripapillary RNFL thickness (P optic nerve or to local mitochondrial dysfunction.

  13. Compressive Bilateral Filtering.

    Science.gov (United States)

    Sugimoto, Kenjiro; Kamata, Sei-Ichiro

    2015-11-01

    This paper presents an efficient constant-time bilateral filter that produces a near-optimal performance tradeoff between approximate accuracy and computational complexity without any complicated parameter adjustment, called a compressive bilateral filter (CBLF). The constant-time means that the computational complexity is independent of its filter window size. Although many existing constant-time bilateral filters have been proposed step-by-step to pursue a more efficient performance tradeoff, they have less focused on the optimal tradeoff for their own frameworks. It is important to discuss this question, because it can reveal whether or not a constant-time algorithm still has plenty room for improvements of performance tradeoff. This paper tackles the question from a viewpoint of compressibility and highlights the fact that state-of-the-art algorithms have not yet touched the optimal tradeoff. The CBLF achieves a near-optimal performance tradeoff by two key ideas: 1) an approximate Gaussian range kernel through Fourier analysis and 2) a period length optimization. Experiments demonstrate that the CBLF significantly outperforms state-of-the-art algorithms in terms of approximate accuracy, computational complexity, and usability. PMID:26068315

  14. Chronic dysimmune neuropathies: Beyond chronic demyelinating polyradiculoneuropathy

    Directory of Open Access Journals (Sweden)

    Khadilkar Satish

    2011-01-01

    Full Text Available The spectrum of chronic dysimmune neuropathies has widened well beyond chronic demyelinating polyradiculoneuropathy (CIDP. Pure motor (multifocal motor neuropathy, sensorimotor with asymmetrical involvement (multifocal acquired demylinating sensory and motor neuropathy, exclusively distal sensory (distal acquired demyelinating sensory neuropathy and very proximal sensory (chronic immune sensory polyradiculopathy constitute the variants of CIDP. Correct diagnosis of these entities is of importance in terms of initiation of appropriate therapy as well as prognostication of these patients. The rates of detection of immune-mediated neuropathies with monoclonal cell proliferation (monoclonal gammopathy of unknown significance, multiple myeloma, etc. have been facilitated as better diagnostic tools such as serum immunofixation electrophoresis are being used more often. Immune neuropathies associated with malignancies and systemic vasculitic disorders are being defined further and treated early with better understanding of the disease processes. As this field of dysimmune neuropathies will evolve in the future, some of the curious aspects of the clinical presentations and response patterns to different immunosuppressants or immunomodulators will be further elucidated. This review also discusses representative case studies.

  15. Drugs for the treatment of peripheral neuropathies.

    Science.gov (United States)

    Marmiroli, Paola; Cavaletti, Guido

    2016-01-01

    Peripheral neuropathies are frequent in association with systemic diseases as well as isolated disorders. Recent advances in the therapy of specific neuropathies led to the approval of new drugs/treatments. This review selected those peripheral neuropathies where the most recent approvals were provided and revised the potential future developments in diabetic and toxic-induced neuropathies, although they do not have a currently available causal therapy in view of their epidemiological and social relevance. Data have been extracted from the most important published trials and from clinical experience. In addition, data from the Food and Drug Administration and European Medicine Agency indications on the treatment of the selected peripheral neuropathies and from recently updated international guidelines have also been included. The website of the U.S. National Institutes of Health www.clinicaltrials.gov registry has been used as the reference database for phase III clinical trials not yet published or ongoing. This review gives a general overview of the most recent advances in the treatment of amyloid, inflammatory, and paraproteinemic peripheral neuropathies. Moreover, it briefly describes the unmet medical need in disabling and frequent conditions, such as diabetic and chemotherapy-induced neuropathy, highlighting the most promising therapeutic approaches to their treatment.

  16. Diagnosis and new treatments in genetic neuropathies.

    Science.gov (United States)

    Reilly, M M; Shy, M E

    2009-12-01

    The genetic neuropathies are a clinically and genetically heterogeneous group of diseases of which the most common types are Charcot-Marie-Tooth disease (CMT), the hereditary sensory and autonomic neuropathies and the distal hereditary motor neuropathies. More than 30 causative genes have been described, making an accurate genetic diagnosis increasingly possible. Although no specific therapies are yet available, research into their pathogenesis has revolutionised our understanding of the peripheral nervous system and allowed the development of rational approaches to therapy. The first therapeutic trials in CMT are currently underway. This review will suggest an approach to the diagnosis of these disorders and provide an update on new therapies.

  17. Phenotyping animal models of diabetic neuropathy

    DEFF Research Database (Denmark)

    Biessels, G J; Bril, V; Calcutt, N A;

    2014-01-01

    NIDDK, JDRF, and the Diabetic Neuropathy Study Group of EASD sponsored a meeting to explore the current status of animal models of diabetic peripheral neuropathy. The goal of the workshop was to develop a set of consensus criteria for the phenotyping of rodent models of diabetic neuropathy...... of statistically different values between diabetic and control animals in 2 of 3 assessments (nocifensive behavior, nerve conduction velocities, or nerve structure). The participants propose that this framework would allow different research groups to compare and share data, with an emphasis on data targeted...... toward the therapeutic efficacy of drug interventions....

  18. Electrodiagnostic testing in diabetic neuropathy: Which limb?

    Science.gov (United States)

    Rota, E; Cocito, D

    2015-10-01

    Electrodiagnosis of subclinical diabetic neuropathies by nerve conduction studies remains challenging. The question arises about which nerves should be tested and what the best electrodiagnostic protocol to make an early diagnosis of diabetic neuropathies would be. On the basis of our findings and other evidence, which highlighted the remarkable prevalence of electrophysiological abnormalities in nerve conduction studies of the upper limbs, often in the presence of normal lower limb conduction parameters, we suggest that both ulnar and median nerves, in their motor and sensitive component, should be the two target nerves for electrodiagnostic protocols in diabetic neuropathies.

  19. A Case of Apoplexy Attack-Like Neuropathy due to Hereditary Neuropathy with Liability to Pressure Palsies in a Patient Diagnosed with Chronic Cerebral Infarction.

    Science.gov (United States)

    Hachisuka, Akiko; Matsushima, Yasuyuki; Hachisuka, Kenji; Saeki, Satoru

    2016-06-01

    Hereditary neuropathy with liability to pressure palsies is an inherited disease associated with the loss of a copy of the PMP22 gene. The condition leads to mononeuropathy due to compression and easy strangulation during daily life activities, resulting in sudden muscle weakness and sensory disturbance, and displaying symptoms similar to cerebrovascular diseases. We report the case of an 80-year-old man with left paralysis due to chronic cerebral infarction. His medical history indicated remarkable recovery from about 4 months after the onset of left hemiplegia with predominant involvement of the fingers. Despite subsequent recurrent monoplegia of the upper or lower limbs, brain magnetic resonance imaging consistently revealed only previous cerebral infarction in the right corona radiata without new lesions. Medical examination showed reduced deep tendon reflexes in his extremities on both the healthy and hemiplegic sides. Nerve conduction studies showed delayed conduction at the bilateral carpal and cubital tunnels and near the right caput fibulae. Genetic analysis revealed loss of a copy of the PMP22 gene. Thus, he was diagnosed with a cerebral infarction complicated by hereditary neuropathy with liability to pressure palsies. Stroke patients develop sudden muscle weakness and sensory disturbance. However, if such patients have no hyperactive deep tendon reflexes and show atypical recovery of paralysis that does not correspond to findings of imaging modalities, nerve conduction studies and genetic analysis may be necessary, considering the complication of hereditary neuropathy with liability to pressure palsies. PMID:27080157

  20. Macular spectral domain optical coherence tomography findings in Tanzanian endemic optic neuropathy.

    Science.gov (United States)

    Kisimbi, John; Shalchi, Zaid; Mahroo, Omar A; Mhina, Celina; Sanyiwa, Anna J; Mabey, Denise; Mohamed, Moin; Plant, Gordon T

    2013-11-01

    Bilateral optic neuropathy in Dar es Salaam is now considered endemic and is estimated to affect 0.3-2.4% of young adults. The condition is characterized by a subacute bilateral loss of central vision of unknown aetiology. Findings of spectral domain optical coherence tomography have not previously been reported for these patients. All patients diagnosed with endemic optic neuropathy over a 2-year period at the Muhimbili National Hospital underwent spectral domain optical coherence tomography macular imaging. Scans were graded qualitatively for severity of retinal nerve fibre layer loss as well as the presence of microcystic macular changes, which have not previously been described in this condition. Of the 128 patients included (54.7% male; median age 20 years), severe retinal nerve fibre layer loss was found in 185 eyes (74.0%). There was full concordance in retinal nerve fibre layer thickness between the two eyes in 113 (91.1%) patients. Microcystic macular spaces were found in 16 (12.5%) patients and were bilateral in nine (7.0%) individuals. These changes were typically more prominent in the nasal than the temporal macula, predominantly involving the inner nuclear layer, and often occurred in an annular configuration that was evident on en face infra-red imaging, though not discernible on colour fundus photography or clinically. All patients with microcystic macular changes had severe thinning of the retinal nerve fibre layer (P = 0.02). Four patients in whom cystic spaces were demonstrated had sequential scans, and there was no detectable alteration in the configuration of these changes over a period of up to 16 months. This is the first study to document optical coherence tomography findings in endemic optic neuropathy. We have observed symmetrical severe loss of the caeco-central projection (papillomacular bundle) with otherwise well-preserved macular architecture. Also, we have observed microcystic retinal changes in a significant proportion of patients

  1. Bilateral Psoas Haematomata Complicating Renal Transplantation

    Directory of Open Access Journals (Sweden)

    Jacob A. Akoh

    2014-01-01

    Full Text Available Background. The challenge in managing patients undergoing renal transplantation is how to achieve optimum levels of anticoagulation to avoid both clotting and postoperative bleeding. We report a rare case of severe postoperative retroperitoneal bleeding including psoas haematomata complicating renal transplantation. Case Report. SM, a 55-year-old female, had a past history of aortic valve replacement, cerebrovascular event, and thoracic aortic aneurysm and was on long-term warfarin that was switched to enoxaparin 60 mg daily a week prior to her living donor transplantation. Postoperatively, she was started on a heparin infusion, but this was complicated by a large retroperitoneal bleed requiring surgical evacuation on the first postoperative day. Four weeks later, she developed features compatible with acute femoral neuropathy and a CT scan revealed bilateral psoas haematomata. Following conservative management, she made steady progress and was discharged home via a community hospital 94 days after transplantation. At her last visit 18 months after transplantation, she had returned to full fitness with excellent transplant function. Conclusion. Patients in established renal failure who require significant anticoagulation are at increased risk of bleeding that may involve prolonged hospitalisation and more protracted recovery and patients should be carefully counselled about this.

  2. Hereditary sensory and autonomic neuropathies.

    Science.gov (United States)

    Auer-Grumbach, Michaela

    2013-01-01

    Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. Hallmark features comprise not only prominent sensory signs and symptoms and ulcerative mutilations but also variable autonomic and motor disturbances. Autosomal dominant and autosomal recessive inheritance has been reported. Molecular genetics studies have identified disease-causing mutations in 11 genes. Some of the affected proteins have nerve-specific roles but underlying mechanisms have also been shown to involve sphingolipid metabolism, vesicular transport, structural integrity, and transcription regulation. Genetic and functional studies have substantially improved the understanding of the pathogenesis of the HSN/HSAN and will help to find preventive and causative therapies in the future.

  3. Linezolid-induced optic neuropathy

    Directory of Open Access Journals (Sweden)

    Divya Karuppannasamy

    2014-01-01

    Full Text Available Many systemic antimicrobials have been implicated to cause ocular adverse effects. This is especially relevant in multidrug therapy where more than one drug can cause a similar ocular adverse effect. We describe a case of progressive loss of vision associated with linezolid therapy. A 45-year-old male patient who was on treatment with multiple second-line anti-tuberculous drugs including linezolid and ethambutol for extensively drug-resistant tuberculosis (XDR-TB presented to us with painless progressive loss of vision in both eyes. Color vision was defective and fundus examination revealed optic disc edema in both eyes. Ethambutol-induced toxic optic neuropathy was suspected and tablet ethambutol was withdrawn. Deterioration of vision occurred despite withdrawal of ethambutol. Discontinuation of linezolid resulted in marked improvement of vision. Our report emphasizes the need for monitoring of visual function in patients on long-term linezolid treatment.

  4. Infectious optic neuropathies: a clinical update

    Directory of Open Access Journals (Sweden)

    Kahloun R

    2015-09-01

    Full Text Available Rim Kahloun, Nesrine Abroug, Imen Ksiaa, Anis Mahmoud, Hatem Zeghidi, Sonia Zaouali, Moncef KhairallahDepartment of Ophthalmology, Fattouma Bourguiba University Hospital, Faculty of Medicine, University of Monastir, Monastir, TunisiaAbstract: Different forms of optic neuropathy causing visual impairment of varying severity have been reported in association with a wide variety of infectious agents. Proper clinical diagnosis of any of these infectious conditions is based on epidemiological data, history, systemic symptoms and signs, and the pattern of ocular findings. Diagnosis is confirmed by serologic testing and polymerase chain reaction in selected cases. Treatment of infectious optic neuropathies involves the use of specific anti-infectious drugs and corticosteroids to suppress the associated inflammatory reaction. The visual prognosis is generally good, but persistent severe vision loss with optic atrophy can occur. This review presents optic neuropathies caused by specific viral, bacterial, parasitic, and fungal diseases.Keywords: optic neuropathy, viruses, bacteria, parasites, fungi, vaccination

  5. Bicycling induced pudendal nerve pressure neuropathy.

    Science.gov (United States)

    Silbert, P L; Dunne, J W; Edis, R H; Stewart-Wynne, E G

    1991-01-01

    Pudendal neuropathies are well recognised as part of more generalised peripheral neuropathies; however, focal abnormalities of the pudendal nerve due to cycling-related injuries have been infrequently reported. We describe two patients who developed pudendal neuropathies secondary to pressure effects on the perineum from racing-bicycle saddles. Both were male competitive athletes, one of whom developed recurrent numbness of the penis and scrotum after prolonged cycling; the other developed numbness of the penis, an altered sensation of ejaculation, with disturbance of micturition and reduced awareness of defecation. Both patients improved with alterations in saddle position and riding techniques. We conclude that pudendal nerve pressure neuropathy can result from prolonged cycling, particularly when using a poor riding technique. PMID:1821826

  6. Genetics Home Reference: giant axonal neuropathy

    Science.gov (United States)

    ... in giant axonal neuropathy: new insights into disease mechanisms. Muscle Nerve. 2012 Aug;46(2):246-56. ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  7. [Peripheral neuropathy caused by acute arsenic poisoning].

    Science.gov (United States)

    Ramírez-Campos, J; Ramos-Peek, J; Martínez-Barros, M; Zamora-Peralta, M; Martínez-Cerrato, J

    1998-01-01

    Although peripheral neuropathy is a fairly common finding in chronic arsenic poisoning, little is known about the acute effects of this metal on peripheral nerves. This report shows clinical and electrophysiological findings in a patient who developed peripheral neuropathy only three days after a high-dose ingestion of this metal due to a failed suicide attempt. We speculate that peripheral nerves and some cranial nerves can show not only clinical but also subclinical involvement that can only be detected by neurophysiological studies.

  8. Multiple cranial neuropathies following etanercept administration.

    Science.gov (United States)

    Hunter, Jacob B; Rivas, Alejandro

    2016-01-01

    There have been recent reports of sarcoid-like granulomatosis development following the administration of tumor necrosis factor (TNF) inhibitors. To date, only four cases of neurosarcoidosis have been reported in association with TNF inhibitors, two of which were attributed to etanercept. We present the first case of etanercept-induced neurosarcoidosis involving multiple cranial neuropathies, including the trigeminal, facial, and vestibulocochlear nerves, while also highlighting the differential diagnoses of multiple cranial neuropathies and the association of TNF inhibitors and neurosarcoidosis. PMID:27178520

  9. Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies.

    Science.gov (United States)

    Lopez Sanchez, M I G; Crowston, J G; Mackey, D A; Trounce, I A

    2016-09-01

    Optic neuropathies are an important cause of blindness worldwide. The study of the most common inherited mitochondrial optic neuropathies, Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) has highlighted a fundamental role for mitochondrial function in the survival of the affected neuron-the retinal ganglion cell. A picture is now emerging that links mitochondrial dysfunction to optic nerve disease and other neurodegenerative processes. Insights gained from the peculiar susceptibility of retinal ganglion cells to mitochondrial dysfunction are likely to inform therapeutic development for glaucoma and other common neurodegenerative diseases of aging. Despite it being a fast-evolving field of research, a lack of access to human ocular tissues and limited animal models of mitochondrial disease have prevented direct retinal ganglion cell experimentation and delayed the development of efficient therapeutic strategies to prevent vision loss. Currently, there are no approved treatments for mitochondrial disease, including optic neuropathies caused by primary or secondary mitochondrial dysfunction. Recent advances in eye research have provided important insights into the molecular mechanisms that mediate pathogenesis, and new therapeutic strategies including gene correction approaches are currently being investigated. Here, we review the general principles of mitochondrial biology relevant to retinal ganglion cell function and provide an overview of the major optic neuropathies with mitochondrial involvement, LHON and ADOA, whilst highlighting the emerging link between mitochondrial dysfunction and glaucoma. The pharmacological strategies currently being trialed to improve mitochondrial dysfunction in these optic neuropathies are discussed in addition to emerging therapeutic approaches to preserve retinal ganglion cell function.

  10. Bilateral accessory thoracodorsal artery.

    Science.gov (United States)

    Natsis, Konstantinos; Totlis, Trifon; Tsikaras, Prokopios; Skandalakis, Panagiotis

    2006-09-01

    The subscapular artery arises from the third part of the axillary artery and gives off the circumflex scapular and the thoracodorsal arteries. Although anatomical variations of the axillary artery are very common, the existence of a unilateral accessory thoracodorsal artery has been described in the literature only once. There are no reports of bilateral accessory thoracodorsal artery, in the literature. In the present study, a bilateral accessory thoracodorsal artery, originating on either side of the third part of the axillary artery, is described in a 68-year-old female cadaver. All the other branches of the axillary artery had a typical origin, course, distribution and termination. This extremely rare anatomical variation apart from the anatomical importance also has clinical significance for surgeons in this area. Especially, during the dissection or mobilization of the latissimus dorsi that is partly used for coverage problems in many regions of the body and also in dynamic cardiomyoplasty, any iatrogenic injury of this accessory artery may result in ischemia and functional loss of the graft.

  11. Diabetic neuropathy part 1: overview and symmetric phenotypes.

    Science.gov (United States)

    Pasnoor, Mamatha; Dimachkie, Mazen M; Kluding, Patricia; Barohn, Richard J

    2013-05-01

    Diabetes is the most common cause of neuropathy in United States and neuropathies are the most common complication of diabetes mellitus, affecting up to 50% of patients with type 1 and type 2 diabetes mellitus. Symptoms usually include numbness, tingling, pain, and weakness. Dizziness with postural changes can be seen with autonomic neuropathy. Metabolic, vascular, and immune theories have been proposed for the pathogenesis of diabetic neuropathy. Axonal damage and segmental demyelination can be seen with diabetic neuropathies. Management of diabetic neuropathy should begin at the initial diagnosis of diabetes and mainly requires tight and stable glycemic control.

  12. Clinical diagnosis of diabetic polyneuropathy with the diabetic neuropathy symptom and diabetic neuropathy examination scores

    NARCIS (Netherlands)

    Meijer, J.W.; Lefrandt, J.D.; Links, T.P.; Smit, J.A.; Stewart, R.E.; van der Hoeven, J.H.; Hoogenberg, K.

    2003-01-01

    OBJECTIVE - To evaluate the discriminative power of the Diabetic Neuropathy Symptom (DNS) and Diabetic Neuropathy Examination (DNE) scores for diagnosing diabetic polyneuropathy (PNP), as well as their relation with cardiovascular autonomic function testing (cAFT) and electro-diagnostic studies (EDS

  13. Reaching the limit of the oculomotor plant: 3D kinematics after abducens nerve stimulation during the torsional vestibulo-ocular reflex.

    Science.gov (United States)

    Klier, Eliana M; Meng, Hui; Angelaki, Dora E

    2012-09-19

    Accumulating evidence shows that the oculomotor plant is capable of implementing aspects of three-dimensional kinematics such as Listing's law and the half-angle rule. But these studies have only examined the eye under static conditions or with movements that normally obey these rules (e.g., saccades and pursuit). Here we test the capability of the oculomotor plant to rearrange itself as necessary for non-half-angle behavior. Three monkeys (Macaca mulatta) fixated five vertically displaced targets along the midsagittal plane while sitting on a motion platform that rotated sinusoidally about the naso-occipital axis. This activated the torsional, rotational vestibulo-ocular reflex, which exhibits a zero-angle or negative-angle rule (depending on the visual stimulus). On random sinusoidal cycles, we stimulated the abducens nerve and observed the resultant eye movements. If the plant has rearranged itself to implement this non-half-angle behavior, then stimulation should reveal this behavior. On the other hand, if the plant is only capable of half-angle behavior, then stimulation should reveal a half-angle rule. We find the latter to be true and therefore additional neural signals are likely necessary to implement non-half-angle behavior.

  14. A Case with Symmetrical Intracranial Calcifications and Systemic Lupus Erythematosus Presenting with Optic Neuropathy

    Directory of Open Access Journals (Sweden)

    Sibel Güler

    2012-06-01

    Full Text Available 53 years old female patient were evaluated for decrease in right eye vision with sudden onset. Neurological examination revealed no characteristics except 20/200 visual acuity in right eye, significant hyperemia and edema findings in optical disc. On cranial CT scans, symmetrical calcifications were evident in bilateral cerebellar peduncles, cerebral hemispheres, both putamens and thalamus. Laboratory examinations showed positive ANA as well as positive anti-DNA and lymphopenia and the case was diagnosed as lupus erythematosus. SLE case with bilaterally diffuse cerebral calcification showed additionally unilateral optic neuropathy clinical presentation. Being the first case in the literature with these two rare associations because of lupus makes it much more interesting to report.

  15. MR neurography in ulnar neuropathy as surrogate parameter for the presence of disseminated neuropathy.

    Directory of Open Access Journals (Sweden)

    Philipp Bäumer

    Full Text Available PURPOSE: Patients with ulnar neuropathy of unclear etiology occasionally present with lesion extension from elbow to upper arm level on MRI. This study investigated whether MRI thereby distinguishes multifocal neuropathy from focal-compressive neuropathy at the elbow. METHODS: This prospective study was approved by the institutional ethics committee and written informed consent was obtained from all participants. 122 patients with ulnar mononeuropathy of undetermined localization and etiology by clinical and electrophysiological examination were assessed by MRI at upper arm and elbow level using T2-weighted fat-saturated sequences at 3T. Twenty-one patients were identified with proximal ulnar nerve lesions and evaluated for findings suggestive of disseminated neuropathy (i subclinical lesions in other nerves, (ii unfavorable outcome after previous decompressive elbow surgery, and (iii subsequent diagnosis of inflammatory or other disseminated neuropathy. Two groups served as controls for quantitative analysis of nerve-to-muscle signal intensity ratios: 20 subjects with typical focal ulnar neuropathy at the elbow and 20 healthy subjects. RESULTS: In the group of 21 patients with proximal ulnar nerve lesion extension, T2-w ulnar nerve signal was significantly (p<0.001 higher at upper arm level than in both control groups. A cut-off value of 1.92 for maximum nerve-to-muscle signal intensity ratio was found to be sensitive (86% and specific (100% to discriminate this group. Ten patients (48% exhibited additional T2-w lesions in the median and/or radial nerve. Another ten (48% had previously undergone elbow surgery without satisfying outcome. Clinical follow-up was available in 15 (71% and revealed definitive diagnoses of multifocal neuropathy of various etiologies in four patients. In another eight, diagnoses could not yet be considered definitive but were consistent with multifocal neuropathy. CONCLUSION: Proximal ulnar nerve T2 lesions at upper

  16. Bilateral Antepartum Mastitis

    Directory of Open Access Journals (Sweden)

    Peyman Alibeigi

    2010-12-01

    Full Text Available Antepartum mastitis is a rare condition, whereas postpartum orlactation mastitis is a common problem. This report introducesa case of complicated bilateral antepartum mastitis, which wastreated successfully by drain insertion and antibiotic therapy.The patient was a 23-year-old woman in the 23rd week of herfirst pregnancy. Her chief complaint was progressive swelling,redness and radicular pain in both breasts, which had beenstarted gradually from the 18th week of pregnancy. The patientwas admitted to hospital, and received oral and intravenous antibioticsempirically, which was not effective. The patient wastreated by drainage and oral antibiotic therapy. Based on theapproaches employed and the outcomes achieved it is suggestedthat early surgical insertion in the presence of fluid collection inantepartum mastitis will shorten hospitalization and course ofintravenous antibiotic therapy.Iran J Med Sci 2010; 35(4: 327-330.

  17. Idiopathic Bilateral Bloody Tearing

    Directory of Open Access Journals (Sweden)

    Emrullah Beyazyıldız

    2015-01-01

    Full Text Available Bloody tear is a rare and distinct clinic phenomenon. We report a case presenting with the complaint of recurrent episodes of bilateral bloody tearing. A 16-year-old girl presented to our clinic with complaint of bloody tearing in both eyes for 3 months. Bloody tearing was not associated with her menses. A blood-stained discharge from the punctum was not observed during the compression of both nasolacrimal ducts. Nasolacrimal passage was not obstructed. Imaging studies such as dacryocystography and gradient-echo magnetic resonance imaging (MRI of nasolacrimal canal were normal. Intranasal endoscopic evaluation was normal. We collected samples from bloody tears two times and pathological examination was performed. Pathological analysis showed lots of squamous cells and no endometrial cells; dysplastic cells were found. Further evaluations for underlying causes were unremarkable. No abnormalities were found in ophthalmologic, radiologic, and pathologic investigations. This condition is likely a rare abnormality and the least recognized aetiology for the idiopathic phenomenon.

  18. Isolated bilateral ectopic microspherophakia

    Directory of Open Access Journals (Sweden)

    André Omgbwa Eballe

    2010-02-01

    Full Text Available André Omgbwa Eballe1, Godefroy Koki2, Emilienne Epée2, Didier Owono2, Lucienne Bella Asumpta2, Côme Ebana Mvogo21Faculty of Medicine and Pharmaceuticals Sciences, University of Douala Cameroon; 2Faculty of Medicine and Biomedical Sciences, University of Yaoundé CameroonSummary: An eight-year-old school girl presented to us with a bilateral ectopic microspherophakia. She was surgically managed in the ophthalmology unit of the Gynaeco-Obstetric and Pediatric Hospital of Yaoundé in Cameroon. The postoperative follow up was uneventful, and the patient returned to school with a best corrected visual acuity of 4/10 in both eyes to the great satisfaction of her parents.Keywords: ectopic, microspherophakia, surgery

  19. Bilateral acute corneal calcification.

    Science.gov (United States)

    Freddo, T F; Leibowitz, H M

    1985-04-01

    A 38-year-old man with brittle, juvenile onset diabetes mellitus and bilateral severe dry eyes with recurrent corneal ulcers developed atypical band-shaped calcifications of both corneas during a 24-hour period. Serum calcium, phosphate, and carbon dioxide levels all were within normal limits. The patient was mildly uremic but was not in renal failure. When EDTA chelation failed to clear the deposits, partial keratectomies were performed in both eyes and the specimens were examined by light and electron microscopy, including energy dispersive x-ray analysis. Microscopic studies revealed an atypical calcific keratopathy which involved neither Bowman's layer nor the most superficial stromal lamellae. The deposits were confined to deeper lamellae in the anterior stroma and by electron microscopy were composed of extracellular crystalline aggregates. Energy dispersive x-ray analysis of these aggregates confirmed the presence of calcium and phosphate. Corneal dessication appeared to be a major contributing factor in the rapid formation of these deposits.

  20. Chronic obstructive pulmonary disease and peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Gupta Prem

    2006-01-01

    Full Text Available Chronic obstructive pulmonary disease (COPD is the fourth leading cause of death world-wide and a further increase in the prevalence as well as mortality of the disease is predicted for coming decades. There is now an increased appreciation for the need to build awareness regarding COPD and to help the thousands of people who suffer from this disease and die prematurely from COPD or its associated complication(s. Peripheral neuropathy in COPD has received scanty attention despite the fact that very often clinicians come across COPD patients having clinical features suggestive of peripheral neuropathy. Electrophysiological tests like nerve conduction studies are required to distinguish between axonal and demyelinating type of disorder that cannot be analyzed by clinical examination alone. However, various studies addressing peripheral neuropathy in COPD carried out so far have included patients with COPD having markedly varying baseline characteristics like severe hypoxemia, elderly patients, those with long duration of illness, etc. that are not uniform across the studies and make it difficult to interpret the results to a consistent conclusion. Almost one-third of COPD patients have clinical evidence of peripheral neuropathy and two-thirds have electrophysiological abnormalities. Some patients with no clinical indication of peripheral neuropathy do have electrophysiological deficit suggestive of peripheral neuropathy. The more frequent presentation consists of a polyneuropathy that is subclinical or with predominantly sensory signs, and the neurophysiological and pathological features of predominantly axonal neuropathy. The presumed etiopathogenic factors are multiple: chronic hypoxia, tobacco smoke, alcoholism, malnutrition and adverse effects of certain drugs.

  1. Treatment of painful diabetic neuropathy.

    Science.gov (United States)

    Javed, Saad; Petropoulos, Ioannis N; Alam, Uazman; Malik, Rayaz A

    2015-01-01

    Painful diabetic neuropathy (PDN) is a debilitating consequence of diabetes that may be present in as many as one in five patients with diabetes. The objective assessment of PDN is difficult, making it challenging to diagnose and assess in both clinical practice and clinical trials. No single treatment exists to prevent or reverse neuropathic changes or to provide total pain relief. Treatment of PDN is based on three major approaches: intensive glycaemic control and risk factor management, treatments based on pathogenetic mechanisms, and symptomatic pain management. Clinical guidelines recommend pain relief in PDN through the use of antidepressants such as amitriptyline and duloxetine, the γ-aminobutyric acid analogues gabapentin and pregabalin, opioids and topical agents such as capsaicin. Of these medications, duloxetine and pregabalin were approved by the US Food and Drug Administration (FDA) in 2004 and tapentadol extended release was approved in 2012 for the treatment of PDN. Proposed pathogenetic treatments include α-lipoic acid (stems reactive oxygen species formation), benfotiamine (prevents vascular damage in diabetes) and aldose-reductase inhibitors (reduces flux through the polyol pathway). There is a growing need for studies to evaluate the most potent drugs or combinations for the management of PDN to maximize pain relief and improve quality of life. A number of agents are potential candidates for future use in PDN therapy, including Nav 1.7 antagonists, N-type calcium channel blockers, NGF antibodies and angiotensin II type 2 receptor antagonists. PMID:25553239

  2. [Current issues in hereditary neuropathies].

    Science.gov (United States)

    Lacour, A

    2013-12-01

    This short review highlights five studies published in 2012 in the field of Charcot-Marie-Tooth disease (CMT) and transthyretin familial amyloid neuropathies (TTR-FAN). Regarding CMT, an Australian pediatric study shows the high prevalence of impaired speech perception and hearing disability in children with CMT1 or CMT2 with normal or near normal audiometry (Rance et al., 2012). In a second study, the clinical and electrophysiological characteristics of 14 patients with CMT4C due to mutations in SH3TC2 gene are described (Yger et al., 2012). The 3 clinical hallmarks of CMT4C patients in this French cohort are the high prevalence of scoliosis, the proximal motor weakness and the cranial nerves involvement. Concerning TTR-FAN, the first data from French and international registries are reported (Adams et al., 2012; Coelho et al., 2013) and a phase II trial describes the results of taurourodeoxycholic acid and doxycycline treatment (Obici et al., 2012).

  3. [The role of the immune system in hereditary demyelinating neuropathies].

    Science.gov (United States)

    Mäurer, M; Toyka, K V; Martini, R

    2005-06-01

    Hereditary neuropathies, e.g., Charcot-Marie-Tooth (CMT) disease, are inherited diseases of the peripheral nervous system causing chronic progressive motor and sensory dysfunction. Most neuropathies are due to mutations in myelin genes such as PMP22, P0, and the gap junction protein Cx32. Myelin mutant mice are regarded as suitable animal models for several forms of hereditary neuropathies and are important neurobiological tools for the evaluation of pathogenetic and therapeutic concepts in hereditary neuropathies. Using these animal models we could recently show that the immune system is involved in the pathogenesis of hereditary neuropathies. Due to the phenotypic similarities we also consider the immune system important for human inherited neuropathies, in particular since several case reports demonstrate a beneficial effect of immune therapies in patients with hereditary neuropathies. In this review we compare findings from animal models and human disease to elucidate the role of the immune system in hereditary neuropathies.

  4. Genetics Home Reference: neuropathy, ataxia, and retinitis pigmentosa

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions NARP neuropathy, ataxia, and retinitis pigmentosa Enable Javascript to view the ... Download PDF Open All Close All Description Neuropathy, ataxia, and retinitis pigmentosa ( NARP ) is a condition that ...

  5. Pediatric isolated bilateral iliac aneurysm.

    Science.gov (United States)

    Chithra, R; Sundar, R Ajai; Velladuraichi, B; Sritharan, N; Amalorpavanathan, J; Vidyasagaran, T

    2013-07-01

    Aneurysms are rare in children. Isolated iliac artery aneurysms are very rare, especially bilateral aneurysms. Pediatric aneurysms are usually secondary to connective tissue disorders, arteritis, or mycotic causes. We present a case of a 3-year-old child with bilateral idiopathic common iliac aneurysms that were successfully repaired with autogenous vein grafts.

  6. Silicosis with bilateral spontaneous pneumothorax

    OpenAIRE

    Fotedar Sanjay; Chaudhary Dhruva; Singhla Vikas; Narang Rajat

    2010-01-01

    Presentation with simultaneous bilateral pneumothorax is uncommon and usually in the context of secondary spontaneous pneumothorax. The association of pneumothorax and silicosis is infrequent and most cases are unilateral. Bilateral pneumothorax in silicosis is very rare with just a few reports in medical literature.

  7. Silicosis with bilateral spontaneous pneumothorax

    Directory of Open Access Journals (Sweden)

    Fotedar Sanjay

    2010-01-01

    Full Text Available Presentation with simultaneous bilateral pneumothorax is uncommon and usually in the context of secondary spontaneous pneumothorax.The association of pneumothorax and silicosis is infrequent and most cases are unilateral. Bilateral pneumothorax in silicosis is very rare with just a few reports in medical literature.

  8. Pathogenesis of immune-mediated neuropathies.

    Science.gov (United States)

    Dalakas, Marinos C

    2015-04-01

    Autoimmune neuropathies occur when immunologic tolerance to myelin or axonal antigens is lost. Even though the triggering factors and the underling immunopathology have not been fully elucidated in all neuropathy subsets, immunological studies on the patients' nerves, transfer experiments with the patients' serum or intraneural injections, and molecular fingerprinting on circulating autoantibodies or autoreactive T cells, indicate that cellular and humoral factors, either independently or in concert with each other, play a fundamental role in their cause. The review is focused on the main subtypes of autoimmune neuropathies, mainly the Guillain-Barré syndrome(s), the Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), the Multifocal Motor Neuropathy (MMN), and the IgM anti-MAG-antibody mediated neuropathy. It addresses the factors associated with breaking tolerance, examines the T cell activation process including co-stimulatory molecules and key cytokines, and discusses the role of antibodies against peripheral nerve glycolipids or glycoproteins. Special attention is given to the newly identified proteins in the nodal, paranodal and juxtaparanodal regions as potential antigenic targets that could best explain conduction failure and rapid recovery. New biological agents against T cells, cytokines, B cells, transmigration and transduction molecules involved in their immunopathologic network, are discussed as future therapeutic options in difficult cases. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.

  9. DIABETIC NEUROPATHY PART 2: PROXIMAL AND ASSYMMETRIC PHENOTYPES

    OpenAIRE

    Pasnoor, Mamatha; Dimachkie, Mazen M.; Barohn, Richard J.

    2013-01-01

    Diabetic neuropathies consist of a variety of syndromes resulting from different types of damage to peripheral or cranial nerves. Although distal symmetric polyneuropathy is most common type of diabetic neuropathy, there are many other subtypes of diabetic neuropathies which have been defined since the 1800’s. Included in these descriptions are patients with proximal diabetic, truncal, cranial, median, and ulnar neuropathies. Various theories have been proposed for the pathogenesis of these n...

  10. Health State Preference Assessment in Diabetic Peripheral Neuropathy

    OpenAIRE

    Sullivan, Sean D.; Doris P. Lew; E. Beth Devine; Zafar Hakim; Gayle E. Reiber; Veenstra, David L.

    2002-01-01

    Objective: To assess patient preferences for health states associated with diabetic peripheral neuropathy (DPN). Design and intervention: Seven health states describing varying stages of disease severity in DPN were developed: mild neuropathy, painful neuropathy, severe neuropathy, minor ulcer, severe ulcer, minor amputation and major amputation. Using a computer interview, both rating scale (RS) and standard gamble (SG) preference scores were elicited from 52 patients with diabetes mellitus....

  11. Animal Models of Peripheral Neuropathy Due to Environmental Toxicants

    OpenAIRE

    Rao, Deepa B.; Jortner, Bernard S.; Sills, Robert C.

    2014-01-01

    Despite the progress in our understanding of pathogeneses and the identification of etiologies of peripheral neuropathy, idiopathic neuropathy remains common. Typically, attention to peripheral neuropathies resulting from exposure to environmental agents is limited relative to more commonly diagnosed causes of peripheral neuropathy (diabetes and chemotherapeutic agents). Given that there are more than 80,000 chemicals in commerce registered with the Environmental Protection Agency and that at...

  12. Femoral compressive neuropathy from iliopsoas haematoma complicating dengue hemorrhagic fever

    Institute of Scientific and Technical Information of China (English)

    Sneha Ganu; Yesha Mehta

    2013-01-01

    Dengue fever is a debilitating mosquito-borne disease caused by dengue virus. We reported a case of femoral compression neuropathy due to iliopsoas hematoma complicating dengue hemorrhagic fever. Iliopsoas muscle hematoma can cause femoral neuropathy with resultant pain and paralysis. Such manifestations are not well documented in the literature. The pathogenesis of hematoma and compressive neuropathy with its appropriate management is discussed.

  13. Blood pressure regulation in diabetic autonomic neuropathy

    DEFF Research Database (Denmark)

    Hilsted, J

    1985-01-01

    Defective blood pressure responses to standing, exercise and epinephrine infusions have been demonstrated in diabetic patients with autonomic neuropathy. The circulatory mechanisms underlying blood pressure responses to exercise and standing up in these patients are well characterized: In both...... experimental situations insufficient contraction of resistance vessels has been demonstrated. The vasoconstrictor defects demonstrated are of a magnitude sufficient to account for the prevailing hypotension. Furthermore, during exercise cardiac output is low in patients with autonomic neuropathy, a finding...... which may contribute to exercise hypotension in these patients. During hypoglycemia, blood pressure regulation seems intact in patients with autonomic neuropathy. This is probably due to release of substantial amounts of catecholamines during these experiments. During epinephrine infusions a substantial...

  14. Treatment of Diabetic Neuropathy- Principles and Methods

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Diabetic neuropathy (DN) is one of the common complications of diabetes mellitus (DM), its incidence can be as high as over 90%. The lesion can involve the sensory, motor and vegetative nerves. As a whole, the lesion can be divided into symmetric multiple neuropathy and asymmetric single neuropathy. Because the pathogenesis of the disease is not clear, no specific therapy is available so far. Besides control of blood sugar level, vitamin B, vasodilators and analgesics are often used in Western medicine for expectant treatment. Basic studies on chronic complications of DM show that aldose reductase and non-enzymatic glycosylation of protein are factors initiating the pathological changes, inhibitors against them have been tested in experimental studies and proved effective. Unfortunately, they are not used clinically due to severe side effects. Screening for herbal drugs to treat DN is still a popular trend in the TCM circle.

  15. A successful case on traditional Chinese fumigation-soaking therapy in treating diabetic peripheral neuropathy

    Institute of Scientific and Technical Information of China (English)

    Hongfang Liu; Huayang Wu; Lizhong Zhang; Jinxi Zhao

    2006-01-01

    AIM: To investigate the scheme of inducing the diabetic peripheral neuropathy (DNP) symptoms by combine Chinese traditional medicine with modern medicine. METHODS: Patient hospitalized on April 1, 2005. Main symptoms in hospitalization: His bilateral fingers and toe tips felt stabbing pain, numb, cold, assuming a type of sock set which alleviated after he had a rest and aggravated after exercise. He had also got the symptom of dizziness, asthenia, eating little food, very thin bowel and body pain which had influence on his sleeping. Physical examination in hospital: The bilateral lower limbs which got a hyperpathia did not swell. The bilateral dorsum pedis artery pulsation was atlenuarive. The skin temperature was not high. Other nerve system examination had been discovered abnormal. Diagnosis: Traditional Chinese medical diagnosis: Xiaokebing (blood stasis for insufficiency of qi, blockage of meridian and collaterals). Modern medical diagnosis: Diabetes type 2, DNP, diabetic lower limbs artery obliteration, diabetic foot (0 level), diabetic retinopathy, coronary atherosclerotic heart disease, hypertension, chronic bronchitis, chronic obstructive pulmonary emphysema. Carried on the former therapy plan that continued to use insulin to control blood glucose, depressed blood pressure and total plasma lipoprotein etc. Meanwhile used the therapy of bilateral feet medicinal bath (Sanling 30 g, Ezhu 30 g, Ruxiang 30 g, Moyao 30 g, Zhichuanwu 30 g, Zhicaowu 30 g, Weilingxian 30 g, Mugua 30 g, Sangzhi 30 g), boiled in water, 1 dose everyday, soak feet twice a day, 20-30 minutes once, < 37 ℃. RESULTS: Seven days later, the pain of bilateral feet alleviated obviously, and the bilateral dorsum pedis artery pulsation enhanced. Blood glucose and total plasma lipoprotein had no changes. CONCLUSION: The symptoms of DNP such as pain, coldness, numbness of the lower limbs can be induced by combining feet medicinal bath (fumigation-soaking) treatment with modern medicine.

  16. Sympathetic vasoconstrictor nerve function in alcoholic neuropathy

    DEFF Research Database (Denmark)

    Jensen, K; Andersen, K; Smith, T;

    1984-01-01

    The peripheral sympathetic vasomotor nerve function was investigated in 18 male chronic alcoholics admitted for intellectual impairment or polyneuropathy. By means of the local 133Xenon washout technique, the sympathetic veno-arteriolar axon-reflex was studied. This normally is responsible for a 50...... (18% and 48% decrease respectively). However, in three patients with moderate neuropathy, and in one patient with no signs of neuropathy, this veno-arteriolar reflex was absent, indicating dysfunction of the peripheral sympathetic adrenergic nerve fibres. The three patients also showed a lesser degree...

  17. [Peripheral neuropathies associated with hereditary cerebellar ataxias].

    Science.gov (United States)

    Anheim, M; Tranchant, C

    2011-01-01

    Inherited cerebellar ataxias constitute a complicated and heterogeneous group of neurodegenerative disorders affecting the cerebellum and/or spinocerebellar tract, spinal cord and peripheral nerves. A peripheral neuropathy is frequently seen in inherited cerebellar ataxias although it rarely reveals the disease. Moreover, the peripheral neuropathy is helpful for the diagnostic procedure and contributes to the functional prognosis of the disease. Thus, electroneuromyography is essential in the algorithm for the diagnosis of inherited cerebellar ataxias, as well as brain MRI (looking especially for cerebellar atrophy) and the assessment of several biomarkers (alpha-foetoprotein, vitamin E, albumin, LDL cholesterol, lactic acid, phytanic acid).

  18. Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients

    Institute of Scientific and Technical Information of China (English)

    Xiaobo Li; Kun Xia; Beisha Tang; Ruxu Zhang; Xiaohong Zi; Lin Li; Yajing Zhan; Shunxiang Huang; Jin Li; Xuning Li; Xigui Li; Zhengmao Hu

    2012-01-01

    We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Tooth disease type 1 and one family with hereditary neuropathy with liability to pressure palsies. The proband and one subclinical family member from the Charcot-Marie-Tooth disease type 1 family had a PMP22 gene duplication; one patient from the hereditary neuropathy with liability to pressure palsies family had a PMP22 gene deletion. Electron microscopic analysis of ultrathin sections of the superficial peroneal nerve from the two probands demonstrated demyelination and myelin sheath hyperplasia, as well as an ‘onion-like’ structure in the Charcot-Marie-Tooth disease type 1A patient. We observed an irregular thickened myelin sheath and ‘mouse-nibbled’-like changes in the patient with hereditary neuropathy with liability to pressure palsies. In the Charcot-Marie-Tooth disease type 1A patient, nerve electrophysiological examination revealed moderate-to-severe reductions in the motor and sensory conduction velocities of the bilateral median nerve, ulnar nerve, tibial nerve, and sural nerve. Moreover, the compound muscle action potential amplitude was decreased. In the patient with hereditary neuropathy with liability to pressure palsies, the nerve conduction velocity of the bilateral tibial nerve and sural nerve was moderately reduced, and the nerve conduction velocity of the median nerve and ulnar nerve of both upper extremities was slightly reduced.

  19. Acute silicosis with bilateral pneumothorax.

    Science.gov (United States)

    Srivastava, G N; Prasad, Rajniti; Meena, Manoj; Hussain, Moosa

    2014-01-01

    We present a case of acute silicosis with bilateral pneumothorax of a 28-year-old man working at a stone crusher factory for 1 year. He presented to the emergency department with cough, respiratory distress and diffuse chest pain. The patient was managed with bilateral intercostal tube drainage under water seal, oxygen inhalation and conservative therapy. On follow-up he showed improvement of resting dyspnoea and was doing well. This case is being reported because of the rare complications of acute silicosis as bilateral pneumothorax. PMID:24862410

  20. Idebenone: A Review in Leber's Hereditary Optic Neuropathy.

    Science.gov (United States)

    Lyseng-Williamson, Katherine A

    2016-05-01

    Idebenone (Raxone(®)), a short-chain benzoquinone, is the only disease-specific drug approved to treat visual impairment in adolescents and adults with Leber's hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes rapid and progressive bilateral vision loss. The mechanism of action of idebenone involves its antioxidant properties and ability to act as a mitochondrial electron carrier. Idebenone overcomes mitochondrial complex I respiratory chain deficiency in patients with LHON by transferring electrons directly to mitochondrial complex III (by-passing complex I), thereby restoring cellular energy (ATP) production and re-activating inactive-but-viable retinal ganglion cells, which ultimately prevents further vision loss and promotes vision recovery. The approval of idebenone in the treatment of LHON was based on the overall data from a randomized clinical trial, a follow-up study and real-world data. Taken together, these studies provide convincing evidence that oral idebenone 900 mg/day for 24 weeks has persistent beneficial effects in preventing further vision impairment and promoting vision recovery in patients with LHON relative to the natural course of the disease. Therefore, idebenone is a valuable agent to treat visual impairment in adolescents and adults with LHON.

  1. [Leber's hereditary optic neuropathy - phenotype, genetics, therapeutic options].

    Science.gov (United States)

    Gallenmüller, C; Klopstock, T

    2014-03-01

    Leber's hereditary optic neuropathy is a rare genetic disorder affecting the retinal ganglion cells leading to a persistent severe bilateral loss of visual acuity within weeks or months. Males are much more likely to be affected than females, disease onset in most cases takes place between age 15 and 35 years. The disease is caused by point mutations in the mitochondrial DNA. The penetrance of the disease is incomplete, i.e., not all mutation carriers develop clinical symptoms. The phenotype is relatively uniform, but age at onset, severity and prognosis may vary even within the same family. Environmental and endocrine factors, optic disc anatomy as well as mitochondrial and nuclear genetic factors are discussed to influence penetrance as well as interindividual and intrafamilial variability. However, only cigarette smoking and excessive alcohol consumption have been shown to trigger disease onset. The disease is characterised by a central visual field defect, impaired colour vision and fundoscopically a peripapillary microangiopathy in the acute phase. Most patients end up after some months with a severe visual loss below 0.1 and in most cases there is no significant improvement of visual acuity in the course. In rare cases patients experience a mostly partial visual recovery which depends on the type of mutation. For confirmation of the diagnosis a detailed ophthalmological examination with fundoscopy, family history and genetic analysis of the mitochondrial DNA is needed. To date, there is no proven causal therapy, but at early disease stages treatment with idebenone can be tried.

  2. Neurophysiological characteristics in infants and young children with auditory neuropathy

    Institute of Scientific and Technical Information of China (English)

    Guangqian Xing; Xingkuan Bu; Dengyuan Wang; Ling Lu

    2005-01-01

    Objective: To analyze neurophysiological characteristics in infants and young children with auditory neuropathy (AN) and explore their clinical significance. Methods: Audiological measurements(acoustic immittance, EOAEs, ABR, CM, MLR and ERPs) and peripheral neurological tests were conducted and evaluated in 13 infants and young children with AN. Six of them received highresolution temporal bone CT scans and/or cerebral MRI examinations. Results: All of the children showed type "A" tympanograms with abseatation of stapedial reflexes. EOAEs were normal in 12 of 13 subjects. In one child who had a history of anoxia during the birth, the EOAEs were not elicited. Click-evoked ABRs were absent in 12 of 13 subjects when maximum output of the instrument was reached. The CM potentials were presented bilaterally in all individuals, which were independent of the EOAEs and ABR. Of eight cases tested, all had clear MLR and six showed normal ERPs(P300 and MMN). Peripheral neurological tests and radiological findings were within the normal ranges. Conclusion: The diagnosis of AN in infants and young children should focus on analyzing their neurophysiological characteristics,especially on CM,MLR and ERPs. Combined use of EOAEs, ABR and CM was recommended for hearing screening on newborns with high risk factors.

  3. Diagnosis and therapeutic options for peripheral vasculitic neuropathy.

    Science.gov (United States)

    Blaes, Franz

    2015-04-01

    Vasculitis can affect the peripheral nervous system alone (nonsystemic vasculitic neuropathy) or can be a part of primary or secondary systemic vasculitis. In cases of pre-existing systemic vasculitis, the diagnosis can easily be made, whereas suspected vasculitic neuropathy as initial or only manifestation of vasculitis requires careful clinical, neurophysiological, laboratory and histopathological workout. The typical clinical syndrome is mononeuropathia multiplex or asymmetric neuropathy, but distal-symmetric neuropathy can frequently be seen. Standard treatments include steroids, azathioprine, methotrexate and cyclophosphamide. More recently the B-cell antibody rituximab and intravenous immunoglobulins have shown to be effective in some vasculitic neuropathy types. PMID:25829955

  4. Plasma dihydroxyphenylglycol (DHPG) as an index of diabetic autonomic neuropathy

    DEFF Research Database (Denmark)

    Christensen, N J; Dejgaard, Anders; Hilsted, J

    1988-01-01

    Forearm venous plasma noradrenalin and dihydroxyphenylglycol (DHPG) concentrations were measured in eight diabetic patients with and eight diabetic patients without neuropathy. Plasma noradrenalin was on average the same in patients with and without neuropathy and correlated to serum creatinine....... Plasma DHPG concentrations were significantly reduced in patients with autonomic neuropathy as compared to patients without neuropathy (P less than 0.05). A low plasma DHPG/noradrenalin ratio in forearm venous blood identified all patients with autonomic neuropathy except one (P less than 0...

  5. DIABETIC NEUROPATHY PART 2: PROXIMAL AND ASSYMMETRIC PHENOTYPES

    Science.gov (United States)

    Pasnoor, Mamatha; Dimachkie, Mazen M.; Barohn, Richard J.

    2014-01-01

    Diabetic neuropathies consist of a variety of syndromes resulting from different types of damage to peripheral or cranial nerves. Although distal symmetric polyneuropathy is most common type of diabetic neuropathy, there are many other subtypes of diabetic neuropathies which have been defined since the 1800’s. Included in these descriptions are patients with proximal diabetic, truncal, cranial, median, and ulnar neuropathies. Various theories have been proposed for the pathogenesis of these neuropathies. The treatment of most of these requires tight and stable glycemic control. Spontaneous recovery is seen in most of these conditions with diabetic control Immunotherapies have been tried in some of these conditions but are quite controversial. PMID:23642718

  6. [Hereditary sensory and motor neuropathy and hereditary sensory and autonomic neuropathies: recent advances].

    Science.gov (United States)

    Stojkovic, T

    2011-12-01

    This review summarizes the recent genetic advances in hereditary sensorimotor neuropathy also called Charcot-Marie-Tooth disease. The different new genes discovered in 2010 and their underlying phenotypes will be presented.

  7. Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness.

    Science.gov (United States)

    Lönnqvist, Tuula; Pihko, Helena

    2003-12-01

    The typical clinical presentation of hereditary neuropathy with liability to pressure palsies is an adult-onset recurrent, painless monoparesis. Electrophysiological abnormalities--decreased nerve conduction velocities and delayed distal latencies--can be detected even in asymptomatic patients. We describe a toddler, who presented with asymmetric toe walking, painful cramps and stiffness in the legs. He had calf hypertrophy, brisk tendon reflexes and bilateral Babinski signs and the electrophysiological examination was normal. The unlikely diagnosis of hereditary neuropathy with liability to pressure palsies was reached 5 years later, when the boy started to complain of episodic numbness and weakness in the upper extremities. His father, paternal aunt and grandmother had similar symptoms, but they had never been investigated. The typical 1.5 Mb deletion on chromosome 17p11.2-12 was found in our patient and his affected relatives. PMID:14678806

  8. Myanmarese Neuropathy: Clinical Description of Acute Peripheral Neuropathy Detected among Myanmarese Refugees in Malaysia

    OpenAIRE

    Fu Liong, Hiew; Santhi, Datuk Puvanarajah; Shanthi, Viswanathan; Mohd Hanip, Rafia

    2014-01-01

    Background. Since 2008, we have observed an increasing number of Myanmarese refugees in Malaysia being admitted for acute/subacute onset peripheral neuropathy. Most of them had a preceding history of starvation. Methods. We retrospectively studied the clinical features of all Myanmarese patients admitted with peripheral neuropathy from September 2008 to January 2014. Results. A total of 24 patients from the Chin, Rohingya, and Rakhine ethnicities (mean age, 23.8 years; male, 96%) had symmetri...

  9. Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy.

    OpenAIRE

    Borruat, F X; Green, W T; Graham, E M; Sweeney, M G.; Morgan-Hughes, J A; Sanders, M D

    1992-01-01

    A case is reported of a 63-year-old man with progressive central visual loss in one eye followed 11 months later by involvement of the fellow eye. A diagnosis of chronic ischaemic optic neuropathy was considered. However, despite a negative family history, the absence of electrocardiographic abnormalities, and minimal fundus changes a diagnosis of Leber's optic neuropathy was made on the basis of magnetic resonance imaging findings and the mitochondrial DNA mutation at base pair 11778.

  10. Bilateral, independent juvenile nasopharyngeal angiofibroma

    DEFF Research Database (Denmark)

    Mørkenborg, Marie-Louise; Frendø, M; Stavngaard, T;

    2015-01-01

    BACKGROUND: Juvenile nasopharyngeal angiofibroma is a benign, vascular tumour that primarily occurs in adolescent males. Despite its benign nature, aggressive growth patterns can cause potential life-threatening complications. Juvenile nasopharyngeal angiofibroma is normally unilateral, originating...... from the sphenopalatine artery, but bilateral symptoms can occur if a large tumour extends to the contralateral side of the nasopharynx. This paper presents the first reported case of true bilateral extensive juvenile nasopharyngeal angiofibroma involving clinically challenging pre-surgical planning...... embolisation. Radical removal performed as one-step, computer-assisted functional endoscopic sinus surgery was performed. The follow-up period was uncomplicated. CONCLUSION: This case illustrates the importance of suspecting bilateral juvenile nasopharyngeal angiofibroma in patients presenting with bilateral...

  11. Bilateral Polydactyly in a foal

    OpenAIRE

    Carstanjen, Bianca; Abitbol, Marie; Desbois, Christophe

    2007-01-01

    The following case report describes the diagnosis and surgery of bilateral polydactyly of unknown origin in a colt. A 7-month-old Berber colt was referred for cosmetic and curative excision of supernumerary digits. Radiographic examination revealed bilateral polydactyly and well-developed first carpal bones. Surgery consisted of an osteotomy of both second metacarpal bones combined with an amputation of the supernumerary digits. The follow-up at 18 months after surgery revealed a sound horse ...

  12. Bilateral cleft lip nasal deformity

    OpenAIRE

    Singh Arun; Nandini R.

    2009-01-01

    Bilateral cleft lip nose deformity is a multi-factorial and complex deformity which tends to aggravate with growth of the child, if not attended surgically. The goals of primary bilateral cleft lip nose surgery are, closure of the nasal floor and sill, lengthening of the columella, repositioning of the alar base, achieving nasal tip projection, repositioning of the lower lateral cartilages, and reorienting the nares from horizontal to oblique position. The multiplicity of procedures in the li...

  13. Suboccipital neuropathy after bone conduction device placement

    NARCIS (Netherlands)

    Faber, H.T.; Ru, J.A. de

    2013-01-01

    OBJECTIVE: To describe the clinical characteristics of a 70-year-old female with occipital neuropathy following bone conduction device surgery. DESCRIPTION: A 65-year-old woman underwent bone conduction device placement surgery on the left temporal bone. Postoperatively she progressively developed c

  14. Trigeminal Neuropathy in Sjogren′s Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro L

    1999-01-01

    Full Text Available Trigeminal neuropathy is the most common CNS disorder in Sjogren′s syndrome. It is believed to be caused by vasculitis. Unless this is recognised, a diagnosis of trigeminal neuralgia is often made. The therapeutic response to steroids is unpredictable. There are two subgroups - those with associated collagen disorders and those only with the sicca syndrome.

  15. Poisoning by organophosphorus insecticides and sensory neuropathy

    OpenAIRE

    Moretto, A; M. Lotti

    1998-01-01

    OBJECTIVES—Poisoning by organophosphate insecticides causes cholinergic toxicity. Organophosphate induced delayed polyneuropathy (OPIDP) is a sensory-motor distal axonopathy which usually occurs after ingestion of large doses of certain organophosphate insecticides and has so far only been reported in patients with preceding cholinergic toxicity. Surprisingly, it was recently reported by other authors that an exclusively sensory neuropathy developed in eight patients afte...

  16. Idiopathic trigeminal neuropathy in a poodle

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo Aparicio

    2010-12-01

    Full Text Available A seven years old, male poodle is examined presenting acute mandible paralysis (dropped jaw, drooling and difficulty for the apprehension and chewing; not evidence of an other alteration of cranial nerves. The muscular biopsy rules out a myositisof masticatory muscles. The disorder is resolved completely in 3 weeks confirming diagnosis of idiopathic trigeminal neuropathy.

  17. An update on electrophysiological studies in neuropathy

    DEFF Research Database (Denmark)

    Krarup, Christian

    2003-01-01

    The review concentrates on the use of clinical neurophysiology in peripheral nerve disorders covered in the present issue. It is pertinent to distinguish different types of involvement of fibers in diabetic neuropathy, including the involvement of small and large fibers, to outline the diagnostic...

  18. A REVIEW ON DIABETIC NEUROPATHY AND NEPHROPATHY

    Directory of Open Access Journals (Sweden)

    Mohd. Muneer Ahamed

    2012-01-01

    Full Text Available Diabetes is a major public health problem. Diabetes mellitus now affects large number of people in many developing countries than western countries where only two or three percent of the population is affected. With on estimated 33 million people in India alone affected by diabetes. It is a major epidemic of the twentieth century. Diabetes is a chronic disorder, which is associated with obesity, hypertension, advancing age, accumulation of harmful agents in the vascular endothelium causing development of microangiopathies or micro vascular complications. These complications include peripheral neuropathy, nephropathy and retinopathy, which cause early death and increased morbidity. These complications vary in prevalence in different populations depending on various factors such as genetic predisposition and ethnicity. Besides these complications cardiovascular changes are also occurring. Peripheral neuropathy (PN is characterized by pain, numbness, and tingling in the extremities with slow nerve conduction. Up to 50% of all patients with diabetes develop neuropathy and the prevalence of painful neuropathy ranges from 10 to 20% of patients with diabetes. Diabetic nephropathy is characterized by increased urinary protein, loss of renal function, excessive deposition of extracellular matrix proteins in the mesangium, and clear cytoplasm of the proximal tubular epithelial cells due to excessive reabsorbed glycogen. Evaluation of diabetes and its complications is very essential for proper control and prevention of the disease associated complications.

  19. MRI in Leber's hereditary optic neuropathy

    DEFF Research Database (Denmark)

    Matthews, Lucy; Enzinger, Christian; Fazekas, Franz;

    2015-01-01

    BACKGROUND: Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological...

  20. Molecular genetics of distal hereditary motor neuropathies.

    Science.gov (United States)

    Irobi, Joy; De Jonghe, Peter; Timmerman, Vincent

    2004-10-01

    Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical and electrophysiological examination, whereas sensory abnormalities were absent. This exclusively motor variant of CMT was designated as spinal CMT or hereditary distal spinal muscular atrophy, and included in the distal hereditary motor neuropathies (distal HMN). The distal HMN are clinically and genetically heterogeneous and are subdivided according to the mode of inheritance, age at onset and clinical evolution. Since the introduction of positional cloning, 12 chromosomal loci and seven disease-causing genes have been identified for autosomal dominant and recessive distal HMN. Most of the genes involved have housekeeping functions, as in RNA processing, translation synthesis, glycosylation, stress response, apoptosis, but also axonal trafficking and editing. Functional characterization of the mutations will help to unravel the cellular processes that underlie the specificity of motor neuropathies leading to neurogenic muscular atrophy of distal limb muscles. Here we review the recent progress of the molecular genetics of distal HMN and discuss the genes implicated.

  1. Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy [v1; ref status: indexed, http://f1000r.es/33n

    Directory of Open Access Journals (Sweden)

    Lori Sames

    2014-04-01

    Full Text Available Approximately 1 in 2500 Americans suffer from Charcot-Marie-Tooth (CMT disease. The underlying disease mechanisms are unique in most forms of CMT, with many point mutations on various genes causing a toxic accumulation of misfolded proteins. Symptoms of the disease often present within the first two decades of life, with CMT1A patients having reduced compound muscle and sensory action potentials, slow nerve conduction velocities, sensory loss, progressive distal weakness, foot and hand deformities, decreased reflexes, bilateral foot drop and about 5% become wheelchair bound. In contrast, the ultra-rare disease Giant Axonal Neuropathy (GAN is frequently described as a recessively inherited condition that results in progressive nerve death. GAN usually appears in early childhood and progresses slowly as neuronal injury becomes more severe and leads to death in the second or third decade. There are currently no treatments for any of the forms of CMTs or GAN. We suggest that further clinical studies should analyse electrical impedance myography as an outcome measure for CMT. Further, additional quality of life (QoL assessments for these CMTs are required, and we need to identify GAN biomarkers as well as develop new genetic testing panels for both diseases. We propose that using the Global Registry of Inherited Neuropathy (GRIN could be useful for many of these studies. Patient advocacy groups and professional organizations (such as the Hereditary Neuropathy Foundation (HNF, Hannah's Hope Fund (HHF, The Neuropathy Association (TNA and the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM can play a central role in educating clinicians and patients. Undertaking these studies will assist in the correct diagnosis of disease recruiting patients for clinical studies, and will ultimately improve the endpoints for clinical trials. By addressing obstacles that prevent industry investment in various forms of inherited neuropathies

  2. Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy [v2; ref status: indexed, http://f1000r.es/3am

    Directory of Open Access Journals (Sweden)

    Lori Sames

    2014-04-01

    Full Text Available Approximately 1 in 2500 Americans suffer from Charcot-Marie-Tooth (CMT disease. The underlying disease mechanisms are unique in most forms of CMT, with many point mutations on various genes causing a toxic accumulation of misfolded proteins. Symptoms of the disease often present within the first two decades of life, with CMT1A patients having reduced compound muscle and sensory action potentials, slow nerve conduction velocities, sensory loss, progressive distal weakness, foot and hand deformities, decreased reflexes, bilateral foot drop and about 5% become wheelchair bound. In contrast, the ultra-rare disease Giant Axonal Neuropathy (GAN is frequently described as a recessively inherited condition that results in progressive nerve death. GAN usually appears in early childhood and progresses slowly as neuronal injury becomes more severe and leads to death in the second or third decade. There are currently no treatments for any of the forms of CMTs or GAN. We suggest that further clinical studies should analyse electrical impedance myography as an outcome measure for CMT. Further, additional quality of life (QoL assessments for these CMTs are required, and we need to identify GAN biomarkers as well as develop new genetic testing panels for both diseases. We propose that using the Global Registry of Inherited Neuropathy (GRIN could be useful for many of these studies. Patient advocacy groups and professional organizations (such as the Hereditary Neuropathy Foundation (HNF, Hannah's Hope Fund (HHF, The Neuropathy Association (TNA and the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM can play a central role in educating clinicians and patients. Undertaking these studies will assist in the correct diagnosis of disease recruiting patients for clinical studies, and will ultimately improve the endpoints for clinical trials. By addressing obstacles that prevent industry investment in various forms of inherited neuropathies

  3. Sinonasal carcinoma presenting as chronic sinusitis and sequential bilateral visual loss

    Directory of Open Access Journals (Sweden)

    Wei-Yu Chiang

    2015-01-01

    Full Text Available Sinonasal undifferentiated carcinoma-related rhinogenic optic neuropathy is rare and may lead to visual loss. To the best of our knowledge, this is the first report of bilateral sequential visual loss induced by this etiology. It is important to differentiate between chronic sinusitis and malignancy on the basis of specific findings on magnetic resonance images. Surgical decompression with multidisciplinary therapy, including steroids, chemotherapy, and radiotherapy, is indicated. However, no visual improvement was noted in this case, emphasizing the rapid disease progression and importance of early diagnosis and treatment.

  4. 38 CFR 4.26 - Bilateral factor.

    Science.gov (United States)

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Bilateral factor. 4.26... DISABILITIES General Policy in Rating § 4.26 Bilateral factor. When a partial disability results from disease... disability. The bilateral factor will be applied to such bilateral disabilities before other combinations...

  5. Axonopathy in peripheral neuropathies: Mechanisms and therapeutic approaches for regeneration.

    Science.gov (United States)

    Landowski, Lila M; Dyck, P James B; Engelstad, JaNean; Taylor, Bruce V

    2016-10-01

    Peripheral neuropathies (PNs) are injuries or diseases of the nerves which arise from varied aetiology, including metabolic disease, trauma and drug toxicity. The clinical presentation depends on the type of neuropathy, and may include the loss of motor, sensory and autonomic functions, or development of debilitating neuropathic pain distal to the injury site. It can be challenging to identify the aetiology of PNs, as the clinical syndromes are often indistinct. However, the mechanisms that underlie pathological changes in peripheral neuropathy are fundamentally different, depending on the trigger. This review focuses on the axonopathy observed in two frequently encountered forms of peripheral neuropathy, diabetic neuropathy and chemotherapy-induced neuropathy. A key manifestation of axonopathy in PN is the degeneration of terminal arbors of peripheral nerves, resulting in a loss of epidermal nerve fibres and inappropriate termination of nerve endings. Many symptoms of PN arise from aberrant termination of nerve endings, and the underlying axonopathy may be non-reversible, as nerve regeneration after injury and disease is often poor, absent, or aberrant. Directed guidance of terminal arbors back into the epidermis is therefore a suggested approach to treat peripheral neuropathy. This review will outline potential strategies to enhance and guide axonal regeneration and reinnervation in the skin. Using diabetic neuropathy and chemotherapy-induced neuropathy as specific examples, this review examines the setbacks encountered with the translation of growth factors into therapeutics for human neuropathy, and suggests a number of approaches for topical drug delivery.

  6. Paralisia facial bilateral Bilateral facial paralysis: a case report

    Directory of Open Access Journals (Sweden)

    J. Fortes-Rego

    1976-03-01

    Full Text Available É apresentado um caso de diplegia facial surgida após meningite meningocócica e infecção por herpes simples. Depois de discutir as diversas condições que o fenômeno pode apresentar-se, o autor inclina-se por uma etiologia herpética.A case of bilateral facial paralysis following meningococcal meningitis and herpes simplex infection is reported. The author discusses the differential diagnosis of bilateral facial nerve paralysis which includes several diseases and syndromes and concludes by herpetic aetiology.

  7. Bilateral spontaneous hemotympanum: Case report

    Directory of Open Access Journals (Sweden)

    Economou Nicolas C

    2006-10-01

    Full Text Available Abstract Background The most common causes of hemotympanum are therapeutic nasal packing, epistaxis, blood disorders and blunt trauma to the head. Hemotympanum is characterized as idiopathic, when it is detected in the presence of chronic otitis media. A rare case of spontaneous bilateral hemotympanum in a patient treated with anticoagulants is presented herein. Case presentation A 72-year-old male presented with acute deterioration of hearing. In the patient's medical history aortic valve replacement 1 year before presentation was reported. Since then he had been administered regularly coumarinic anticoagulants, with INR levels maintained between 3.4 and 4.0. Otoscopy revealed the presence of bilateral hemotympanum. The audiogram showed symmetrical moderately severe mixed hearing loss bilaterally, with the conductive component predominating. Tympanograms were flat bilaterally with absent acoustic reflexes. A computerized tomography scan showed the presence of fluid in the mastoid and middle ear bilaterally. Treatment was conservative and consisted of a 10-day course of antibiotics, anticongestants and temporary interruption of the anticoagulant therapy. After 3 weeks, normal tympanic membranes were found and hearing had returned to previous levels. Conclusion Anticoagulant intake should be included in the differential diagnosis of hemotympanum, because its detection and appropriate treatment may lead to resolution of the disorder.

  8. Bilateral thoracic outlet syndrome: An uncommon presentation of a rare condition in children

    Directory of Open Access Journals (Sweden)

    Arif Khan

    2012-01-01

    Full Text Available We report an adolescent girl who had left-sided neurogenic thoracic outlet syndrome (TOS due to impingement of the scalenus anterior muscle with bilateral changes on nerve conduction studies and responded well to surgical decompression. A 13-year-old Caucasian girl presented with intermittent pain, swelling, erythema, tingling and numbness of the palmar aspect of her left hand. Nerve conduction studies revealed bilateral ulnar sensory and motor conduction abnormalities, suggesting early compressive neuropathy in the asymptomatic arm as well. She underwent surgical exploration when it was noted that the scalenus anterior itself was impinging on the brachial plexus. She had a good clinical response to scalenectomy. The diagnosis of neurogenic TOS remains difficult as no single test has been accepted as a gold standard. But, once diagnosed using clinical symptoms, nerve conduction studies, electromyography and radiological investigations, it is a treatable condition with good prognosis.

  9. Surgical approach to lower extremity nerve decompression in the patient with diabetic neuropathy

    NARCIS (Netherlands)

    Dellon, A.L.

    2007-01-01

    Neuropathy associated with Diabetes is increasing at epidemic rates throughout the world. Traditionally, this neuropathy causes loss of protective sensation leading to ulceration, infection , and amputation. Even with good glycemic control, this neuropathy is still considered progressive and irrever

  10. Acute silicosis with bilateral pneumothorax

    OpenAIRE

    Srivastava, G. N.; Prasad, Rajniti; Meena, Manoj; Hussain, Moosa

    2014-01-01

    We present a case of acute silicosis with bilateral pneumothorax of a 28-year-old man working at a stone crusher factory for 1 year. He presented to the emergency department with cough, respiratory distress and diffuse chest pain. The patient was managed with bilateral intercostal tube drainage under water seal, oxygen inhalation and conservative therapy. On follow-up he showed improvement of resting dyspnoea and was doing well. This case is being reported because of the rare complications of...

  11. Tumefactive Brain Demyelination Accompanying MADSAM Neuropathy

    Directory of Open Access Journals (Sweden)

    Şefik Evren Erdener

    2015-09-01

    Full Text Available Multifocal acquired demyelinating sensory and motor (MADSAM neuropathy is characterized by asymmetric multifocal motor and sensory loss and conduction blocks in peripheral nerves. Peripheral demyelinating diseases may be accompanied by demyelination in central nervous system (CNS. In this report, a MADSAM patient with a solitary tumefactive demyelinating lesion in brain is presented. Neuroimaging due to a visual field defect revealed a right parietooccipital lesion, which was initially misdiagnosed as a tumor. Pathological examination showed that it was demyelinating in nature. Peripheral nervous symptoms of the patient developed two years later and she was then diagnosed with MADSAM. There was prominent clinical and electrophysiological response to steroid treatment. Tumefactive brain involvement was not previously reported for MADSAM neuropathy, although it was documented in a single case with typical chronic inflammatory demyelinating polyneuropathy (CIDP. CNS involvement should therefore be considered in MADSAM patients.

  12. Cardiovascular autonomic neuropathy in the diabetic patients.

    Directory of Open Access Journals (Sweden)

    Maria Eugenia Niño Mantilla

    2007-11-01

    Full Text Available the dysfunction of the autonomic nervous system is a serious problem in diabetic patients. The cardiovacular autonomic neuropathy is the most important autonomic dysfuntion for it´s implication in the increasesof the mortality rate in diabetis patients. tis ethiopatogenesis is the result of a multifactorial process caused by chronic hyperglycemia, ending up in damage of the autonomic fibers thet innervate the heart and blood vessels, leading to dysfuntional hearth rate control and abnormal vascular dynamics. the associated clinical manifestations include orthotatic hypotension, excecise intolerance, intraoperative cardiovascular liability and silent myocardial ischemia. Being important its recognition, quantitative test to evaluate the cardiovascular funtion, to value its evolution and the effects of the treatment ahould be done, being the most used, the hearth rate response to standing test, and teh valsalva maneuver. the handling of this entity is done improving control of glucose blood levels its the most effective way to prevent the cardiovascular autonomic neuropathy in the diabetic patients.

  13. Auditory Neuropathy Spectrum Disorder Masquerading as Social Anxiety

    OpenAIRE

    Behere, Rishikesh V.; Rao, Mukund G.; Mishra, Shree; Varambally, Shivarama; Nagarajarao, Shivashankar; Bangalore N Gangadhar

    2015-01-01

    The authors report a case of a 47-year-old man who presented with treatment-resistant anxiety disorder. Behavioral observation raised clinical suspicion of auditory neuropathy spectrum disorder. The presence of auditory neuropathy spectrum disorder was confirmed on audiological investigations. The patient was experiencing extreme symptoms of anxiety, which initially masked the underlying diagnosis of auditory neuropathy spectrum disorder. Challenges in diagnosis and treatment of auditory neur...

  14. Diagnosis and therapeutic options for peripheral vasculitic neuropathy

    OpenAIRE

    Blaes, Franz

    2015-01-01

    Vasculitis can affect the peripheral nervous system alone (nonsystemic vasculitic neuropathy) or can be a part of primary or secondary systemic vasculitis. In cases of pre-existing systemic vasculitis, the diagnosis can easily be made, whereas suspected vasculitic neuropathy as initial or only manifestation of vasculitis requires careful clinical, neurophysiological, laboratory and histopathological workout. The typical clinical syndrome is mononeuropathia multiplex or asymmetric neuropathy, ...

  15. Axonal neuropathy associated with monoclonal gammopathy of undetermined significance

    OpenAIRE

    GORSON, K.; Ropper, A.

    1997-01-01

    OBJECTIVE—The neuropathy associated with monoclonal gammopathy of undetermined significance (MGUS) is typically a predominantly demyelinating process that may have additional features of axonal degeneration. Sixteen patients with MGUS and a pure or predominantly axonal neuropathy are reported and compared with 20 consecutive patients with demyelinating neuropathy and MGUS who were seen during the same period.
METHODS—Retrospective review of a consecutive series of patients w...

  16. North America and South America (NA-SA) neuropathy project.

    Science.gov (United States)

    Pasnoor, Mamatha; Nascimento, Osvaldo J M; Trivedi, Jaya; Wolfe, Gil I; Nations, Sharon; Herbelin, Laura; de Freitas, M G; Quintanilha, Giseli; Khan, Saud; Dimachkie, Mazen; Barohn, Richard

    2013-08-01

    Peripheral neuropathy is a common neurological disorder. There may be important differences and similarities in the diagnosis of peripheral neuropathy between North America (NA) and South America (SA). Neuromuscular databases were searched for neuropathy diagnosis at two North American sites, University of Kansas Medical Center and University of Texas Southwestern Medical Center, and one South American site, Federal Fluminense University in Brazil. All patients were included into one of the six major categories: immune-mediated, diabetic, hereditary, infectious/inflammatory, systemic/metabolic/toxic (not diabetic) and cryptogenic. A comparison of the number of patients in each category was made between North America and South America databases. Total number of cases in North America was 1090 and in South America was 1034 [immune-mediated: NA 215 (19.7%), SA 191 (18%); diabetic: NA 148 (13.5%), SA 236 (23%); hereditary: NA 292 (26.7%), SA 103 (10%); infectious/inflammatory: NA 53 (4.8%), SA 141 (14%); systemic/metabolic/toxic: NA 71 (6.5%), SA 124 (12%); cryptogenic: NA 311 (28.5%), SA 239 (23%)]. Some specific neuropathy comparisons were hereditary neuropathies [Charcot-Marie-Tooth (CMT) cases] in NA 246/292 (84.2%) and SA 60/103 (58%); familial amyloid neuropathy in SA 31/103 (30%) and none in NA. Among infectious neuropathies, cases of human T-lymphotropic virus type 1 (HTLV-1) neuropathy in SA were 36/141(25%), Chagas disease in SA were 13/141(9%) and none for either in NA; cases of neuropathy due to leprosy in NA were 26/53 (49%) and in SA were 39/141(28%). South American tertiary care centers are more likely to see patients with infectious, diabetic and hereditary disorders such as familial amyloid neuropathies. North American tertiary centers are more likely to see patients with CMT. Immune neuropathies and cryptogenic neuropathies were seen equally in North America and South America.

  17. Infectious optic neuropathies: a clinical update

    OpenAIRE

    Kahloun R; Abroug N; Ksiaa I; Mahmoud A; Zeghidi H; Zaouali S; Khairallah M

    2015-01-01

    Rim Kahloun, Nesrine Abroug, Imen Ksiaa, Anis Mahmoud, Hatem Zeghidi, Sonia Zaouali, Moncef KhairallahDepartment of Ophthalmology, Fattouma Bourguiba University Hospital, Faculty of Medicine, University of Monastir, Monastir, TunisiaAbstract: Different forms of optic neuropathy causing visual impairment of varying severity have been reported in association with a wide variety of infectious agents. Proper clinical diagnosis of any of these infectious conditions is based on epidemiological data...

  18. Medical management of hereditary optic neuropathies

    Directory of Open Access Journals (Sweden)

    Chiara eLa Morgia

    2014-07-01

    Full Text Available Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON and Dominant Optic Atrophy (DOA. They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1 and 14484/ND6 for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone. Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising venue that still needs to be validated.

  19. Medical management of hereditary optic neuropathies.

    Science.gov (United States)

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated.

  20. Diabetic neuropathy part 2: proximal and asymmetric phenotypes.

    Science.gov (United States)

    Pasnoor, Mamatha; Dimachkie, Mazen M; Barohn, Richard J

    2013-05-01

    Diabetic neuropathies consist of a variety of syndromes resulting from different types of damage to peripheral or cranial nerves. Although distal symmetric polyneuropathy is the most common type of diabetic neuropathy, many other subtypes have been defined since the 1800s, including proximal diabetic, truncal, cranial, median, and ulnar neuropathies. Various theories have been proposed for the pathogenesis of these neuropathies. The treatment of most requires tight and stable glycemic control. Spontaneous recovery is seen in most of these conditions with diabetic control. Immunotherapies have been tried in some of these conditions however are controversial. PMID:23642718

  1. Painful diabetic neuropathies, cases report and diagnostic criteria

    Directory of Open Access Journals (Sweden)

    Marco Lacerenza

    2006-12-01

    Full Text Available Painful diabetic neuropathy is a model for the investigation of drug’s efficacy in neuropathic pain. Diabetes, through multiple pathophysiological mechanisms causes several painful neuropathies. In this paper two clinical cases of painful diabetic neuropathic conditions are described and clinical and neurophysiological criteria to make the correct diagnosis are examined. Diabetes causes different painful diabetic neuropathies, at times even in a single patient. Different types of pains may originate from different nerve injuries, and harbour different pathophysiological mechanisms. A comprehensive and accurate evaluation of clinical and neurophysiological abnormalities in painful diabetic neuropathies provides insight on the pathophysiological mechanism and directs the clinician towards rational treatment strategies.

  2. Validity of the neurological examination in diagnosing diabetic peripheral neuropathy.

    Science.gov (United States)

    Höliner, Isabella; Haslinger, Vera; Lütschg, Jürg; Müller, Guido; Barbarini, Daniela Seick; Fussenegger, Jörg; Zanier, Ulrike; Saely, Christoph H; Drexel, Heinz; Simma, Burkhard

    2013-09-01

    The aim of this study was to evaluate the prevalence of diabetic peripheral neuropathy in children and adolescents with type 1 diabetes mellitus and examine whether the neurological examination validly diagnoses diabetic peripheral neuropathy as compared with the gold standard of nerve conduction velocity in these patients. Nerve conduction velocity was measured in an unselected consecutive series of patients aged 8-18 years who had been suffering from type 1 diabetes mellitus for at least 1 year. For the neurological examination, neuropathy disability scores and neuropathy sign scores were used. Of the 39 patients, six (15%) had clinically evident diabetic peripheral neuropathy, whereas nerve conduction velocity testing revealed diabetic peripheral neuropathy in 15 (38%) patients. Sensitivity and specificity of the neurological examination for the diagnosis of diabetic peripheral neuropathy were 40% and 100%, respectively. The corresponding positive and negative predictive values were 100% and 72.7%, respectively. This conclusions from this study are that in children and adolescents with type 1 diabetes mellitus, diabetic peripheral neuropathy is highly prevalent, but in the majority of patients it is subclinical. Sensitivity and negative predictive values of the neurological examination are low. Therefore, routine nerve conduction velocity measurement for the assessment of diabetic peripheral neuropathy appears to be warranted in these patients.

  3. Effect of Tinospora cordifolia on experimental diabetic neuropathy

    Directory of Open Access Journals (Sweden)

    Pratibha D Nadig

    2012-01-01

    Conclusions: Tinospora cordifolia prevents the hyperalgesia in experimental diabetic neuropathy. It has an aldose reductase inhibitory activity in-vitro which may contribute to the beneficial effects.

  4. Abnormal Nutritional Factors in Patients Evaluated at a Neuropathy Center.

    Science.gov (United States)

    Latov, Norman; Vo, Mary L; Chin, Russell L; Carey, Bridget T; Langsdorf, Jennifer A; Feuer, Naomi T

    2016-06-01

    Abnormal concentrations of nutritional factors were found in 24.1% of 187 patients with neuropathy who were newly seen at our academic neuropathy referral center over a 1-year period. All patients presented with sensory axonal or small fiber neuropathy. In 7.3%, they were present in association with at least one other identifiable cause for neuropathy. Elevated levels of pyridoxal phosphate or mercury occurred more frequently than deficiencies in vitamins B1, B12, or B6. The nutritional abnormalities are amenable to correction by dietary intervention. PMID:27224436

  5. Diabetic neuropathy part 2: proximal and asymmetric phenotypes.

    Science.gov (United States)

    Pasnoor, Mamatha; Dimachkie, Mazen M; Barohn, Richard J

    2013-05-01

    Diabetic neuropathies consist of a variety of syndromes resulting from different types of damage to peripheral or cranial nerves. Although distal symmetric polyneuropathy is the most common type of diabetic neuropathy, many other subtypes have been defined since the 1800s, including proximal diabetic, truncal, cranial, median, and ulnar neuropathies. Various theories have been proposed for the pathogenesis of these neuropathies. The treatment of most requires tight and stable glycemic control. Spontaneous recovery is seen in most of these conditions with diabetic control. Immunotherapies have been tried in some of these conditions however are controversial.

  6. Primary synchronous bilateral breast cancer

    Directory of Open Access Journals (Sweden)

    R Krishnappa

    2014-01-01

    Full Text Available Background: Primary synchronous bilateral breast cancer (PSBBC is a rare clinical entity. The reported incidence ranges between 0.3% and 12%. There are several controversial issues regarding PSBBC pertaining to the diagnostic criteria, nomenclature, and management policies. Materials and Methods: Fourteen cases of PSBBC treated between 2001 to 2010 at our institute were retrospectively analysed in regards to demographic data, management and follow up. Results: PSBBC constituted 0.19% of total breast cancer patients at our institute. Age ranged from 28 to 78 years. PSBBC were detected by clinical examination in eight cases and by mammography in six cases. Twelve patients underwent bilateral modified radical mastectomy, one had unilateral mastectomy on one side and breast conservation on the other side and one patient has bilateral breast conservation. Majority of patients belonged to stage 2 and stage 3. All patients were found to have invasive ductal carcinoma. Five cases were ER/PR positive and 8 patients were triple hormone receptor negative. Eight patients received unilateral and six received bilateral adjuvant radiotherapy. Nine patients received adjuvant chemotherapy. 5 patients received adjuvant hormonal therapy. Median follow up of patients was 15.4 months. Conclusion: PSBBC is a rare event warranting awareness and screening of the contralateral breast in patients with unilateral breast cancer. These patients require individualized treatment planning based on the tumor factors of the index lesion. Further multi institutional prospective studies are needed for adequate understanding of management of PSBBC.

  7. Spontaneous bilateral quadriceps tendon rupture.

    Science.gov (United States)

    Vigneswaran, N; Lee, K; Yegappan, M

    2007-11-01

    Spontaneous bilateral quadriceps tendon ruptures are uncommon. We present a 30-year-old man with end-stage renal failure, who sustained this injury, and subsequently had surgical repair of both tendons on separate occasions. He has since regained full range of movement of both knees.

  8. Bilateral familial nevus of Ota.

    Science.gov (United States)

    Goyal, Sunali; Uwaydat, Sami H; Phillips, Paul H; Schaefer, G Bradley

    2014-12-01

    Nevus of Ota is a benign congenital melanocytic lesion found most commonly in people of Asian ancestry. It is associated with an increased risk of glaucoma and uveal melanomas. Most cases are sporadic and unilateral. We present the first reported case of a brother and sister with familial, bilateral nevus of Ota.

  9. Clinicopathological study of vasculitic peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Rong-fang DONG

    2014-06-01

    Full Text Available Objective To summarize the clinical features and neuropathological characteristics in patients with vasculitic peripheral neuropathy (VPN. Methods Clinical manifestations, laboratory examination and neuromuscular biopsy characteristics of 11 patients with VPN were retrospectively analyzed. The lesion of nerve, muscle and skin was observed under optical and electron microscope. Immunohistochemical analyses were carried out to detect neurofilament (NF, myelin basic protein (MBP, peripheral myelin protein 22 (PMP22 and S-100 protein (S-100 and further observing the neuropathy of neuraxon, myelin sheath and Schwann cells, and to detect human leukocyte antigen DR (HLA-DR, CD68, CD3 and CD20 to observe inflammatory cell infiltration. Immunofluorescent staining was used to detect the deposition of IgA, IgM, IgG and addiment C3 on vascular wall. The staining of periodic acid-Schiff (PAS, NADH-tetrazolium reductase (NADH-TR and modified Gomori trichrome (MGT were used to judge the myopathy. Results 1 Angiopathies were mainly manifested by small vessels of epineurium and perineurium, and infiltrated inflammatory cells were mainly CD3 + T cells. Three patients had active vasculitis, and 8 patients had non-active vasculitis. Among these 8 patients, 4 patients mainly presented fibrous obliteration of blood vessel, with slight inflammatroy cell infiltration, and the other 4 patients mainly showed perivascular inflammation. 2 Neuropathy: 6 patients had axon degeneration, and 5 patients had axon degeneration associated with demyelination. All of them demonstrated a reduction in myelinated fibers, mainly large diameter myelinated fibers, even on end-stage. 3 Muscle biopsy showed neurogenic atrophy. 4 Clinicopathologic diagnosis: among these 11 patients, 8 patients were diagnosed as systemic vasculitic peripheral neuropathy (SVPN, among whom 5 patients were diagnosed as primary systemic vasculitis [including 1 patient as Churg-Strauss syndrome (CSS, 2 patients as

  10. Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Kobayashi, Y.; Sharpe, H.; Brown, N.

    1994-07-01

    The authors have investigated the distribution of mutant mtDNA molecules in single cells from a patient with Leber hereditary optic neuropathy (LHON). LHON is a maternally inherited disease that is characterized by a sudden-onset bilateral loss of central vision, which typically occurs in early adulthood. More than 50% of all LHON patients carry an mtDNA mutation at nucleotide position 11778. This nucleotide change converts a highly conserved arginine residue to histidine at codon 340 in the NADH-ubiquinone oxidoreductase subunit 4 (ND4) gene of mtDNA. In the present study, the authors used PCR amplification of mtDNA from lymphocytes to investigate mtDNA heteroplasmy at the single-cell level in a LHON patient. They found that most cells were either homoplasmic normal or homoplasmic mutant at nucleotide position 11778. Some (16%) cells contained both mutant and normal mtDNA.

  11. Effect of low level laser therapy on neurovascular function of diabetic peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Abeer A. Yamany

    2012-01-01

    Full Text Available Diabetic neuropathy is the most common complication and greatest source of morbidity and mortality in diabetic patients. Thirty male and female patients with painful diabetic neuropathy and abnormal results from nerve conduction studies participated in this study. Their ages ranged from 45 to 60 years with a mean of 52.1 ± SD 4.7 years. Patients were randomly assigned into two equal groups of 15, an active laser group (laser group and a placebo laser group (control group. The laser group received scanning helium neon (He–Ne infrared laser with wavelength 850 nm and density of 5.7 J/cm2, applied to the lumbosacral area and the plantar surface of the foot for 15 min each site/session three times per week for four weeks (i.e. 12 sessions. Pain intensity via visual analogue scale, bilateral peroneal motor nerves, sural sensory nerves conduction velocity and amplitude and foot skin microcirculation, were measured pre- and post-treatment for both groups. Pain was significantly decreased (p ⩽ 0.05 and electrophysiological parameters and foot skin microcirculation were significantly improved (p ⩽ 0.05 in the laser group, while no significant change was obtained in the control group. Low level laser therapy within the applied parameters and technique could be an effective therapeutic modality in reducing pain and improving neurovascular function in patients with diabetic polyneuropathy.

  12. Leber's hereditary optic neuropathy masquerading as optic neuritis with spontaneous visual recovery.

    Science.gov (United States)

    Hsu, Tsui-Kang; Wang, An-Guor; Yen, May-Yung; Liu, Jorn-Hon

    2014-01-01

    We report a case of Leber's hereditary optic neuropathy (LHON) masquerading as optic neuritis with late visual recovery. A 28-year-old man had gradual visual loss in both eyes for two weeks. Visual acuity was 0.4 in the right eye and 0.7 in the left. Fundus examination revealed hyperaemic discs in each eye. Fluorescein angiography revealed dye leakage at both optic discs in the late phase. Static perimetry (Humphrey 30-2) revealed bilateral relative central scotomata. Magnetic resonance imaging of the optic nerves was normal and his lumbar puncture showed normal opening pressure. He received steroid pulse therapy for three days. Nevertheless, vision in his right eye deteriorated to 0.1 one month later and left vision worsened to 0.05 six months later. Fifteen months after onset, his vision began to improve. At 21 months, his vision recovered to 0.9 R and 1.0 L. Peripheral blood DNA sequencing revealed 14484 mutation of mitochondrial DNA (mtDNA). Visual recovery can occur in patients with Leber's hereditary optic neuropathy with mtDNA 14484 mutation. LHON could be misdiagnosed as optic neuritis in some cases. Molecular examination of mtDNA mutation can confirm the diagnosis of LHON in clinically controversial patients. We should keep in mind the diagnosis of LHON when optic neuritis shows poor response to pulse therapy.

  13. 电针改善单纯外展神经麻痹性眼球运动障碍的临床分析%Clinical analysis of abducens nerve palsy treated by electroacupuncture

    Institute of Scientific and Technical Information of China (English)

    马朝廷; 杨迎新; 马秋艳; 张丹丹; 赵彦萍; 李喜文

    2015-01-01

    AIM: To observe the clinical curative effect of electroacupuncture connecting Qiuhou ( EX-HN7) and Hegu( LI-4) for eyeball movement disorder caused by acquired simplex abducens nerve palsy. METHODS:Randomly we divided 48 cases(48 eyes) into treatment group(26 cases with 26 eyes) and control group (22 cases with 22 eyes), diagnosed with abducens nerve palsy from March 2012 to March 2015 at ophthalmology department of Beijing hospital of traditional Chinese medicine affiliated to Capital Medical University.Patients in treatment group were treated by electroacupuncture connecting Qiuhou ( EX-HN7) and Hegu ( LI-4), with body acupuncture and acupoints around eye. Control group took methylcobalamin (0.5mg,3 times per day) orally and subcutaneously injection of compound anisodine hydrobromide by the superficial temporal vein (2mL, once a day ) as the treatment. During the treatment, affected eyes of all the patients were covered. The course of treatments was 1mo.The improvement of eye movements was observed. RESULTS:The date of the two groups was comparable at baseline.After 1mo treatments, the eye movement of treatment group was significantly improved from 13.06±2.31mm pre-treatment to 19.35±3.21mm post-treatment, than that of the control group. The difference was statistically significant (t=-5.43, P<0.01).The effective rate of the treatment group was 88.5%, higher than that of the control group (63.6%).The difference was statistically significant (χ2=4.16, P=0.04). CONCLUSION: The electroacupuncture connecting Qiuhou(EX-HN7) and Hegu (LI-4)has certain effects on the treatment of eyeball movement disorder caused by simplex abduction paralysis.It is worth further clinical research.%AIM: To observe the clinical curative effect of electroacupuncture connecting Qiuhou ( EX -HN7 ) and Hegu(LI -4 ) for eyeball

  14. Bilateral Abducent Palsy in Leptospirosis- An Eye Opener to a Rare Neuro Ocular Manifestation: A Case Report

    Directory of Open Access Journals (Sweden)

    Mahadevaiah Mahesh

    2015-11-01

    Full Text Available Leptospirosis, a disease of great significance in tropical countries, presents commonly as a biphasic illness with acute febrile episode in the first phase followed by a brief afebrile period and then by the second phase of fever with or without jaundice and renal failure. However, it has varied manifestations and unusual clinical features ascribed to immunological phenomena can occur due to the additional involvement of pulmonary, cardiovascular, and neurological systems. Among the various neurological features, aseptic meningitis is the most common myeloradiculopathy, myelopathy, cerebellar dysfunction, transverse myelitis, Guillain-Barre syndrome, optic neuritis, peripheral neuropathy are also described. Cranial neuropathy involving facial nerve is a rare, but known neurological manifestation. Sixth nerve palsy in neuroleptospirosis has so far not been reported. We hereby present the occurrence of bilateral abducent nerve palsy in a patient with leptospirosis.

  15. Tratamiento conservador en pacientes con retinoblastoma bilateral

    OpenAIRE

    Juan C. Suárez; Mabel C. Ospina; Sandra A. Arias; González, María E

    2008-01-01

    OBJETIVO: comparar el tratamiento convencional del retinoblastoma bilateral, usado hasta hace algunos años, consistente en radioterapia o enucleación bilateral, con el tratamiento conservador actual que incluye termoterapia transpupilar (TTT) o TTT/quimioterapia al menos en un ojo, en niños con diagnóstico de retinoblastoma bilateral. DISEÑO: estudio retrospectivo descriptivo. MUESTRA: 20 pacientes con diagnóstico de retinoblastoma bilateral que consultaron al Hospital Universitario San Vicen...

  16. Laparoscopic Adrenalectomy for Bilateral Metachronous Aldosteronomas

    OpenAIRE

    Rizek, Philippe; Gorecki, Piotr; Lindenmayer, Aristid; Moktan, Sabita

    2011-01-01

    Introduction: Primary aldosteronism affects 5% to 13% of patients with hypertension. Idiopathic bilateral hyperplasia (IHA) and unilateral aldosterone-producing adenoma (APA) are the most common types of primary aldosteronism. Bilateral APA is a very rare entity with only a few reports in the literature. We present the case of a patient with metachronous bilateral APA treated with metachronous bilateral total and near total adrenalectomy. Case Report: A 66-year-old female was evaluated for hy...

  17. Rhesus anti-D immunoglobulin in chronic autoimmune neuropathy

    NARCIS (Netherlands)

    de Jager, AEJ; van der Hoeven, JH

    1998-01-01

    Objective - To investigate the effect of Rhesus anti-D immunoglobulin (anti-D) in patients with an autoimmune demyelinating neuropathy. Material and methods - Three patients with an autoimmune mediated neuropathy received 1000 IU anti-D weekly for 2 months. Results - Two patients worsened gradually

  18. Leber's hereditary optic neuropathy and vitamin B12 deficiency

    NARCIS (Netherlands)

    Pott, Jan Willem R.; Wong, Kwok H.

    2006-01-01

    Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy caused by mutations in mitochondrial DNA (mtDNA). It is also believed that several epigenetic factors have an influence on the development of LHON. Methods: A case series was observed. Results: Three pa

  19. An early diagnostic tool for diabetic peripheral neuropathy in rats

    NARCIS (Netherlands)

    Kambiz, S.; Neck, J.W. van; Cosgun, S.G.; Velzen, M.H. van; Janssen, J.A.M.; Avazverdi, N.; Hovius, S.E.; Walbeehm, E.T.

    2015-01-01

    The skin's rewarming rate of diabetic patients is used as a diagnostic tool for early diagnosis of diabetic neuropathy. At present, the relationship between microvascular changes in the skin and diabetic neuropathy is unclear in streptozotocin (STZ) diabetic rats. The aim of this study was to invest

  20. An early diagnostic tool for diabetic peripheral neuropathy in rats

    NARCIS (Netherlands)

    S. Kambiz (Shoista); J.W. van Neck (Han); Cosgun, S.G. (Saniye G.); M.H.N. van Velzen (M. H N); J.A.M.J.L. Janssen (Joseph); Avazverdi, N. (Naim); S.E.R. Hovius (Steven); E.T. Walbeehm (Erik)

    2015-01-01

    textabstractThe skin's rewarming rate of diabetic patients is used as a diagnostic tool for early diagnosis of diabetic neuropathy. At present, the relationship between microvascular changes in the skin and diabetic neuropathy is unclear in streptozotocin (STZ) diabetic rats. The aim of this study w

  1. Lithium-induced motor neuropathy: An unusual presentation

    OpenAIRE

    Satyakam Mohapatra; Manas Ranjan Sahoo; Neelmadhav Rath

    2016-01-01

    Peripheral neuropathy secondary to lithium is under-recognized. Most cases of polyneuropathy were reported with lithium intoxication. However, very few cases were reported without lithium toxicity. We present a case of motor neuropathy due to the use of lithium in a 26-year-old male with a therapeutic lithium level.

  2. Simultaneous and staged bilateral total hip arthroplasty

    DEFF Research Database (Denmark)

    Lindberg-Larsen, Martin; Joergensen, Christoffer Calov; Husted, Henrik;

    2013-01-01

    Bilateral total hip arthroplasty (BTHA) and bilateral simultaneous total hip arthroplasty (BSTHA) are done increasingly. Previous studies evaluating outcomes after bilateral procedures have found different results. The aim of this study was to investigate length of hospital stay (LOS), 30 days...

  3. Bilateral pallidotomy for generalized dystonia Palidotomia bilateral para distonias generalizadas

    Directory of Open Access Journals (Sweden)

    Hélio A. G. Teive

    2001-06-01

    Full Text Available OBJECTIVE: To evaluate the efficacy and safety of bilateral pallidotomies in five patients with generalized dystonia. BACKGROUND: Generalized dystonias are frequently a therapeutic challenge, with poor responses to pharmacological treatment. GPi (globus pallidus internus pallidotomies for Parkinson's disease ameliorate all kinds of dyskinesias/dystonia, and recent studies reported a marked improvement of refractory dystonias with this procedure. METHODS: Five patients with generalized dystonias refractory to medical treatment were selected; one posttraumatic and four idiopathic. The decision to perform bilateral procedures was based on the predominant axial involvement in these patients. Dystonia severity was assessed with the Burke-Fahn-Marsden Dystonia Scale (BFM. Simultaneous procedures were performed in all but one patient, who had a staged procedure. They were reevaluated with the same scale (BFM by an unblinded rater at 1, 2, 3, 30, 60, 90, 120 and 180 days post-operatively. RESULTS: The four patients with idiopathic dystonia showed a progressive improvement up to three months; the patient with posttraumatic dystonia relapsed at three months. One patient had a marked improvement, being able to discontinue all the medications. A mean decrease in the BFM scores of 52,58% was noted. One patient had a trans-operative motor seizure followed by a transient hemiparesis secondary to rack hemorrhage; other was lethargic up to three days after the procedure. CONCLUSIONS: Our results show that bilateral GPi pallidotomies may be a safe and effective approach to medically refractory generalized dystonias; it can also be speculated that the posttraumatic subgroup may not benefit with this procedure.As distonias generalizadas são freqüentemente um desafio terapêutico, com pobres respostas aos tratamentos farmacológicos. As cirurgias estereotáxicas, como a palidotomia, têm sido utilizadas com êxito no tratamento da doença de Parkinson e estudos

  4. Bilateral Lhermitte-Duclos disease

    Directory of Open Access Journals (Sweden)

    Bozbuga Mustafa

    2010-01-01

    Full Text Available Lhermitte-Duclos disease (LDD is a pathologic entity with progrediating, diffuse hypertrophy chiefly of the stratum granulosum of the cerebellum. Typically LDD is a unilateral lesion of the cerebellum or in vermis. Here we report a case of LDD with bilateral lesions of cerebellar hemispheres managed surgically. A 28-year-old woman presented with one-year history of progressive headache, nausea, vomiting, and blurred vision. Neurologic examination revealed a bilateral mild papilledema, mild dysmetria, and dysdiadochokinesia. The cerebellar lesions caused moderate mass effect in posterior fossa with hydrocephalus, and Chiari type I malformation. We performed the suboccipital-retrosigmoid approach, and removed completely the left intracerebellar mass. Symptoms related to elevated intracranial pressure disappeared in a short period postoperatively.

  5. Immediate Sequential Bilateral Cataract Surgery

    DEFF Research Database (Denmark)

    Kessel, Line; Andresen, Jens; Erngaard, Ditte;

    2015-01-01

    The aim of the present systematic review was to examine the benefits and harms associated with immediate sequential bilateral cataract surgery (ISBCS) with specific emphasis on the rate of complications, postoperative anisometropia, and subjective visual function in order to formulate evidence......-based national Danish guidelines for cataract surgery. A systematic literature review in PubMed, Embase, and Cochrane central databases identified three randomized controlled trials that compared outcome in patients randomized to ISBCS or bilateral cataract surgery on two different dates. Meta-analyses were...... performed using the Cochrane Review Manager software. The quality of the evidence was assessed using the GRADE method (Grading of Recommendation, Assessment, Development, and Evaluation). We did not find any difference in the risk of complications or visual outcome in patients randomized to ISBCS or surgery...

  6. Bilateral Molariform Mandibular Second Premolars

    OpenAIRE

    Sonu Acharya; Pradip Kumar Mandal; Chiranjit Ghosh

    2015-01-01

    Macrodontia is a rare dental anomaly that refers to teeth that appear larger than normal. Generalised macrodontia can be associated with certain medical conditions and syndromes. This case report presents clinical and radiographic findings of isolated bilateral macrodontia in a 14-year-old child. The patient was referred to the clinic with local crowding of maxillary and mandibular teeth. Radiographic findings revealed the presence of impacted macrodont mandibular second premolar on one side ...

  7. Decreased myocardial perfusion reserve in diabetic autonomic neuropathy

    DEFF Research Database (Denmark)

    Taskiran, Mustafa; Fritz-Hansen, Thomas; Rasmussen, Verner;

    2002-01-01

    The pathophysiological mechanisms responsible for increased cardiovascular mortality in diabetic autonomic neuropathy are unknown. To investigate the effect of autonomic neuropathy on myocardial function, we performed dynamic contrast-enhanced magnetic resonance perfusion imaging during baseline...... conditions and after Dipyridamole-induced vasodilatation in nine type 1 diabetic patients with autonomic neuropathy (AN+), defined by cardiovascular tests, as well as in 10 type 1 diabetic patients without autonomic neuropathy (AN-) and 10 healthy control subjects. Baseline myocardial perfusion index (K...... blood pressure response to Dipyridamole and myocardial perfusion reserve index. We conclude that type 1 diabetic patients with autonomic neuropathy have a decreased myocardial perfusion reserve capacity when challenged with a vasodilatator, a finding that may in part be the pathophysiological substrate...

  8. Compensation following bilateral vestibular damage

    Directory of Open Access Journals (Sweden)

    Bill J Yates

    2011-12-01

    Full Text Available Bilateral loss of vestibular inputs affects far fewer patients than unilateral inner ear damage, and thus has been understudied. In both animal subjects and human patients, bilateral vestibular hypofunction (BVH produces a variety of clinical problems, including impaired balance control, inability to maintain stable blood pressure during postural changes, difficulty in visual targeting of images, and disturbances in spatial memory and navigational performance. Experiments in animals have shown that nonlabyrinthine inputs to the vestibular nuclei are rapidly amplified following the onset of BVH, which may explain the recovery of postural stability and orthostatic tolerance that occurs within 10 days. However, the loss of the vestibulo-ocular reflex and degraded spatial cognition appear to be permanent in animals with BVH. Current concepts of the compensatory mechanisms in humans with BVH are largely inferential, as there is a lack of data from patients early in the disease process. Translation of animal studies of compensation for BVH into therapeutic strategies and subsequent application in the clinic is the most likely route to improve treatment. In addition to physical therapy, two types of prosthetic devices have been proposed to treat individuals with bilateral loss of vestibular inputs: those that provide tactile stimulation to indicate body position in space, and those that deliver electrical stimuli to branches of the vestibular nerve in accordance with head movements. The relative efficacy of these two treatment paradigms, and whether they can be combined to facilitate recovery, is yet to be ascertained.

  9. Sciatic neuropathy developed after injection during curettage.

    Science.gov (United States)

    Altıntaş, Ayşe; Gündüz, Ayşegül; Kantarcı, Fatih; Gözübatık Çelik, Gökçen; Koçer, Naci; Kızıltan, Meral E

    2016-01-01

    Intramuscular injections are likely the most common cause of sciatic nerve injury in developing countries. Less common causes include piriformis syndrome, primary tumors of the sciatic nerve, metastatic tumors invading or compressing the nerve, endometriosis, vascular malformations, and prolonged immobilization or positioning. While the most reliable diagnostic and prognostic methods include nerve conduction studies and electromyography, magnetic resonance imaging has been suggested as an alternative method of determining type of lesion, establishing location, and investigating level of nerve involvement. A case of sciatic neuropathy that developed after intramuscular injection, with patient in prolonged lithotomy position and under sedation, is described. PMID:27225613

  10. INFLUENCE ON VESTIBULAR FUNCTION BY AUDITORY NEUROPATHY

    Institute of Scientific and Technical Information of China (English)

    WANG Jingmiao; JIANG Xinxia; SHAN Chunguang

    2013-01-01

    Objective The main purpose of the present study was to describe the vestibular function in patients with auditory neuropathy (AN), and to assess their ability to maintain balance. Methods Vestibular function tests were performed on 32 patients with AN and 36 normal subjects including electronystagmopraphy(ENG) and static postrography(SPG). The results from the two groups were compared. Results Equilibrium function in patients with AN, was abnormal, compared to normal subjects. Conclusion Vestibular function tests, espe-cially static postrography, should be performed on patients with AN.

  11. Clinical features and electrodiagnosis of ulnar neuropathies.

    Science.gov (United States)

    Landau, Mark E; Campbell, William W

    2013-02-01

    In this review, we delineate clinical, electrodiagnostic, and radiographic features of ulnar mononeuropathies. Ulnar neuropathy at the elbow (UNE) is most commonly due to lesions at the level of the retroepicondylar groove (RTC), with approximately 25% at the humeroulnar arcade (HUA). The term 'cubital tunnel syndrome' should be reserved for the latter. The diagnostic accuracy of nerve conduction studies is limited by biological (e.g. low elbow temperature) and technical factors. Across-elbow distance measurements greater than 10 cm improve diagnostic specificity at the expense of decreased sensitivity. Short-segment incremental studies can differentiate lesions at the HUA from those at the RTC.

  12. Diagnosis and classification of autoimmune optic neuropathy.

    Science.gov (United States)

    Petzold, Axel; Plant, Gordon T

    2014-01-01

    The spectrum of autoimmune optic neuropathies (ON) is extending. The phenotypic spectrum includes single isolated optic neuritis (SION), relapsing isolated optic neuritis (RION), chronic relapsing inflammatory optic neuropathy (CRION), the neuromyelitis optica (NMO) spectrum disorder, multiple sclerosis associated optic neuritis (MSON) and unclassified optic neuritis (UCON) forms. Epidemiological data suggests a slight female predominance. The ethnic heritage is relevant as Caucasian patients are more likely to suffer from MSON, whilst SION, RION, CRION and NMO are more frequent in non-Caucasian patients. Importantly, prognosis for recovery of visual function is good in MSON, but poorer in NMO and CRION which also have a high chance for recurrent episodes. Testing for serum anti-AQP4 autoantibodies is advised in all patients with severe, atypical or recurrent ON because of the high diagnostic specificity. The diagnostic specificity may be aided by testing for glial biomarkers in the CSF and prognostic accuracy by testing for biomarkers for neuroaxonal degeneration. Optical coherence tomography is a highly accurate tool to document the final outcome. The current clinical classification criteria rely on the phenotype, response to treatment and presence of anti-AQP4 autoantibodies.

  13. Early diabetic neuropathy: Triggers and mechanisms

    Institute of Scientific and Technical Information of China (English)

    Maxim Dobretsov; Dmitry Romanovsky; Joseph R Stimers

    2007-01-01

    Peripheral neuropathy, and specifically distal peripheral neuropathy (DPN), is one of the most frequent and troublesome complications of diabetes mellitus. It is the major reason for morbidity and mortality among diabetic patients, It is also frequently associated with debilitating pain. Unfortunately, our knowledge of the natural history and pathogenesis of this disease remains limited. For a long time hyperglycemia was viewed as a major, if not the sole factor, responsible for all symptomatic presentations of DPN. Multiple clinical observations and animal studies supported this view. The control of blood glucose as an obligatory step of therapy to delay or reverse DPN is no longer an arguable issue. However, while supporting evidence for the glycemic hypothesis has accumulated, multiple controversies accumulated as well.It is obvious now that DPN cannot be fully understood without considering factors besides hyperglycemia. Some symptoms of DPN may develop with little, if any, correlation with the glycemic status of a patient. It is also clear that identification of these putative non-glycemic mechanisms of DPN is of utmost importance for our understanding of failures with existing treatments and for the development of new approaches for diagnosis and therapy of DPN. In this work we will review the strengths and weaknesses of the glycemic hypothesis, focusing on clinical and animal data and on the pathogenesis of early stages and triggers of DPN other than hyperglycemia.

  14. Treating Painful Diabetic Peripheral Neuropathy: An Update.

    Science.gov (United States)

    Snyder, Matthew J; Gibbs, Lawrence M; Lindsay, Tammy J

    2016-08-01

    Painful diabetic peripheral neuropathy occurs in approximately 25% of patients with diabetes mellitus who are treated in the office setting and significantly affects quality of life. It typically causes burning pain, paresthesias, and numbness in a stocking-glove pattern that progresses proximally from the feet and hands. Clinicians should carefully consider the patient's goals and functional status and potential adverse effects of medication when choosing a treatment for painful diabetic peripheral neuropathy. Pregabalin and duloxetine are the only medications approved by the U.S. Food and Drug Administration for treating this disorder. Based on current practice guidelines, these medications, with gabapentin and amitriptyline, should be considered for the initial treatment. Second-line therapy includes opioid-like medications (tramadol and tapentadol), venlafaxine, desvenlafaxine, and topical agents (lidocaine patches and capsaicin cream). Isosorbide dinitrate spray and transcutaneous electrical nerve stimulation may provide relief in some patients and can be considered at any point during therapy. Opioids and selective serotonin reuptake inhibitors are optional third-line medications. Acupuncture, traditional Chinese medicine, alpha lipoic acid, acetyl-l-carnitine, primrose oil, and electromagnetic field application lack high-quality evidence to support their use. PMID:27479625

  15. Molecular genetics of hereditary sensory neuropathies.

    Science.gov (United States)

    Auer-Grumbach, Michaela; Mauko, Barbara; Auer-Grumbach, Piet; Pieber, Thomas R

    2006-01-01

    Hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), are a clinically and genetically heterogeneous group of disorders. They are caused by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Both congenital and juvenile to adulthood onset is possible. Currently, the classification of the HSN depends on the mode of inheritance, age at onset, and clinical presentation. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Spontaneous fractures and neuropathic arthropathy are frequent complications and often necessitate amputations. Autonomic features vary between different subgroups. Distal muscle weakness and wasting may be present and is sometimes so prominent that it becomes difficult to distinguish HSN from Charcot-Marie-Tooth syndrome. Recent major advances in molecular genetics have led to the identification of seven gene loci and six-disease causing genes for autosomal-dominant and autosomal-recessive HSN. These genes have been shown to play roles in lipid metabolism and the regulation of intracellular vesicular transport, but also a presumptive transcriptional regulator, a nerve growth factor receptor, and a nerve growth factor have been described among the causative genes in HSN. Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes.

  16. A case of bilateral visual loss after spinal cord surgery.

    Science.gov (United States)

    Shifa, Jemal; Abebe, Worknehe; Bekele, Negussie; Habte, Dereje

    2016-01-01

    Visual loss is a rare but potentially devastating postoperative complication of prone spinal surgery with a reported incidence of 0.017 to 0.1 percent. We present a case of post-operative bilateral visual loss in a patient who had a laminectomy in prone position under general anesthesia. A 17-year-old male patient with large syringomyelia extending from C2 - T2 level had a surgical procedure done under general anesthesia (GA) in prone position that lasted four hours. After the surgical procedure, the patient presented to the Ophthalmology Clinic of Princess Marina Hospital, with a complaint of visual loss of the right eye followed by left, of one week duration. The patient never had a visual impairment in the past. Physical examination, fundal examination and CT scan revealed no primary cause for the visual loss. In this patient the absence of any finding in the optic disc and the retina and the normal CT scan, suggests that the most likely diagnosis is posterior ischemic optic neuropathy. The patient was treated with prednisolone tablet daily and showed mild improvement in vision. PMID:27279946

  17. Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.

    Science.gov (United States)

    Chance, Phillip F

    2006-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or "sausage-like" formations. Mild overlap of clinical features with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain, paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s). Episodes are often

  18. Bilateral ECT induces bilateral increases in regional cortical thickness.

    Science.gov (United States)

    van Eijndhoven, P; Mulders, P; Kwekkeboom, L; van Oostrom, I; van Beek, M; Janzing, J; Schene, A; Tendolkar, I

    2016-01-01

    Electroconvulsive therapy (ECT) is the most effective treatment for patients suffering from severe or treatment-resistant major depressive disorder (MDD). Unfortunately its underlying neurobiological mechanisms are still unclear. One line of evidence indicates that the seizures produced by ECT induce or stimulate neuroplasticity effects. Although these seizures also affect the cortex, the effect of ECT on cortical thickness is not investigated until now. We acquired structural magnetic resonance imaging data in 19 treatment-resistant MDD patients before and after a bilateral ECT course, and 16 healthy controls at 2 time points, and compared changes in cortical thickness between the groups. Our results reveal that ECT induces significant, bilateral increases in cortical thickness, including the temporal pole, inferior and middle temporal cortex and the insula. The pattern of increased cortical thickness was predominant in regions that are associated with seizure onset in ECT. Post hoc analyses showed that the increase in thickness of the insular cortex was larger in responders than in non-responders, which may point to a specific relationship of this region with treatment effects of ECT. PMID:27552587

  19. Diabetic peripheral neuropathy: current perspective and future directions.

    Science.gov (United States)

    Singh, Randhir; Kishore, Lalit; Kaur, Navpreet

    2014-02-01

    Diabetic neuropathy is a heterogeneous group of disorders with extremely complex pathophysiology and affects both somatic and autonomic components of the nervous system. Neuropathy is the most common chronic complication of diabetes mellitus. Metabolic disruptions in the peripheral nervous system, including altered protein kinase C activity, and increased polyol pathway activity in neurons and Schwann cells resulting from hyperglycemia plays a key role in the development of diabetic neuropathy. These pathways are related to the metabolic and/or redox state of the cell and are the major source of damage. Activation of these metabolic pathways leads to oxidative stress, which is a mediator of hyperglycemia induced cell injury and a unifying theme for all mechanisms of diabetic neuropathy. The therapeutic intervention of these metabolic pathways is capable of ameliorating diabetic neuropathy but therapeutics which target one particular mechanism may have a limited success. Available therapeutic approaches are based upon the agents that modulate pathogenetic mechanisms (glycemic control) and relieve the symptoms of diabetic neuropathy. This review emphasizes the pathogenesis, presently available therapeutic approaches and future directions for the management of diabetic neuropathy.

  20. Wherefore Art Thou, O Treatment for Diabetic Neuropathy?

    Science.gov (United States)

    Malik, R A

    2016-01-01

    As of March 2016, we continue to advocate the diagnosis of diabetic neuropathy using a simple foot examination or monofilament, which identifies only those with severe neuropathy and hence risk of foot ulceration. Given the fact that the 5-year mortality rate of diabetic patients with foot ulceration is worse than that of most common cancers, surely we should be identifying patients at an earlier stage of neuropathy to prevent its progression to a stage with such a high mortality? Of course, we lament that there is no licensed treatment for diabetic neuropathy. Who is to blame? As researchers and carers, we have a duty of care to our patients with diabetic neuropathy. So, we have to look forward not backwards, and move away from our firmly entrenched views on the design and conduct of clinical trials for diabetic neuropathy. Relevant organizations such as Neurodiab, the American Diabetes Association and the Peripheral Nerve Society have to acknowledge that they cannot continue to endorse a bankrupt strategy. The FDA needs an open and self-critical dialogue with these organizations, to give pharmaceutical companies at least a fighting chance to deliver effective new therapies for diabetic neuropathy.

  1. Bilateral cleft lip nasal deformity

    Directory of Open Access Journals (Sweden)

    Singh Arun

    2009-01-01

    Full Text Available Bilateral cleft lip nose deformity is a multi-factorial and complex deformity which tends to aggravate with growth of the child, if not attended surgically. The goals of primary bilateral cleft lip nose surgery are, closure of the nasal floor and sill, lengthening of the columella, repositioning of the alar base, achieving nasal tip projection, repositioning of the lower lateral cartilages, and reorienting the nares from horizontal to oblique position. The multiplicity of procedures in the literature for correction of this deformity alludes to the fact that no single procedure is entirely effective. The timing for surgical intervention and its extent varies considerably. Early surgery on cartilage may adversely affect growth and development; at the same time, allowing the cartilage to grow in an abnormal position and contributing to aggravation of deformity. Some surgeons advocate correction of deformity at an early age. However, others like the cartilages to grow and mature before going in for surgery. With peer pressure also becoming an important consideration during the teens, the current trend is towards early intervention. There is no unanimity in the extent of nasal dissection to be done at the time of primary lip repair. While many perform limited nasal dissection for the fear of growth retardation, others opt for full cartilage correction at the time of primary surgery itself. The value of naso-alveolar moulding (NAM too is not universally accepted and has now more opponents than proponents. Also most centres in the developing world have neither the personnel nor the facilities for the same. The secondary cleft nasal deformity is variable and is affected by the extent of the original abnormality, any prior surgeries performed and alteration due to nasal growth. This article reviews the currently popular methods for correction of nasal deformity associated with bilateral cleft lip, it′s management both at the time of cleft lip repair

  2. BILATERAL DUPLICATION OF RENAL ARTERIES

    Directory of Open Access Journals (Sweden)

    Prajkta A Thete

    2014-09-01

    Full Text Available Routine dissection of a male cadaver revealed the presence of bilateral double renal arteries. On the right side the accessory renal artery originated from the abdominal aorta just above the main renal artery. On the left side the accessory renal artery originated from the abdominal aorta about 1 cm above the main renal artery. Knowledge of the variations of renal vascular anatomy has importance in exploration and treatment of renal trauma, renal transplantation, renal artery embolization, surgery for abdominal aortic aneurysm and conservative or radical renal surgery

  3. Bilateral molariform mandibular second premolars.

    Science.gov (United States)

    Acharya, Sonu; Kumar Mandal, Pradip; Ghosh, Chiranjit

    2015-01-01

    Macrodontia is a rare dental anomaly that refers to teeth that appear larger than normal. Generalised macrodontia can be associated with certain medical conditions and syndromes. This case report presents clinical and radiographic findings of isolated bilateral macrodontia in a 14-year-old child. The patient was referred to the clinic with local crowding of maxillary and mandibular teeth. Radiographic findings revealed the presence of impacted macrodont mandibular second premolar on one side and erupted macrodontic premolar on the other side and their distinct morphological appearance, characterized by large, multitubercular, and molariform crowns and tapering, single roots. PMID:25685564

  4. Giant Axonal Neuropathy Among Two Siblings - A Case Report

    Directory of Open Access Journals (Sweden)

    John Jhon. K

    2001-01-01

    Full Text Available Giant axonal neuropathy is a rate disorder with an autosomal recessive inheritance. It should be differentiated from toxic neuropathies, and hereditary degenerative disorders of nervous system like Friedreich′s ataxia and HMSN. Thick curly hair, though may not be present always is a useful clinical clue to identify cases. Prognosis is generally poor though course of the illness is variable. We report here a clinically and hisopathologically characteristic familial case of giant axonal neuropathy, which occurred in a 17-year-old boy, and his 21-year-old sister.

  5. Hereditary optic neuropathies share a common mitochondrial coupling defect.

    Science.gov (United States)

    Chevrollier, Arnaud; Guillet, Virginie; Loiseau, Dominique; Gueguen, Naïg; de Crescenzo, Marie-Anne Pou; Verny, Christophe; Ferre, Marc; Dollfus, Hélène; Odent, Sylvie; Milea, Dan; Goizet, Cyril; Amati-Bonneau, Patrizia; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pascal

    2008-06-01

    Hereditary optic neuropathies are heterogeneous diseases characterized by the degeneration of retinal ganglion cells leading to optic nerve atrophy and impairment of central vision. We found a common coupling defect of oxidative phosphorylation in fibroblasts of patients affected by autosomal dominant optic atrophy (mutations of OPA1), autosomal dominant optic atrophy associated with cataract (mutations of OPA3), and Leber's hereditary optic neuropathy, a disorder associated with point mutations of mitochondrial DNA complex I genes. Interestingly, the energetic defect was significantly more pronounced in Leber's hereditary optic neuropathy and autosomal dominant optic atrophy patients with a more complex phenotype, the so-called plus phenotype.

  6. The optic nerve head in hereditary optic neuropathies.

    Science.gov (United States)

    O'Neill, Evelyn C; Mackey, David A; Connell, Paul P; Hewitt, Alex W; Danesh-Meyer, Helen V; Crowston, Jonathan G

    2009-05-01

    Hereditary optic neuropathies are a prominent cause of blindness in both children and adults. The disorders in this group share many overlapping clinical characteristics, including morphological changes that occur at the optic nerve head. Accurate and prompt clinical diagnosis, supplemented with imaging when indicated, is essential for optimum management of the relevant optic neuropathy and appropriate counseling of the patient on its natural history. Patient history, visual field assessment, optic disc findings and imaging are the cornerstones of a correct diagnosis. This Review highlights the characteristic optic nerve head features that are common to the various hereditary optic neuropathies, and describes the features that enable the conditions to be differentiated.

  7. Neuropathy-Inducing Effects of Eribulin Mesylate Versus Paclitaxel in Mice with Preexisting Neuropathy

    OpenAIRE

    Wozniak, Krystyna M; Wu, Ying; Farah, Mohamed H.; Littlefield, Bruce A.; Nomoto, Kenichi; Barbara S Slusher

    2013-01-01

    Eribulin mesylate (E7389, INN:eribulin mesilate Halaven®) is a non-taxane microtubule dynamics inhibitor currently in clinical use for advanced breast cancer. Other microtubule-targeting agents for breast cancer, including paclitaxel and ixabepilone, display a common treatment dose-limiting toxicity of peripheral neuropathy (PN). In an earlier study, we found eribulin mesylate had a lower propensity to induce PN in mice than either paclitaxel or ixabepilone. In the current study, we compared ...

  8. Bilateral Monteggia fracture in adults

    Directory of Open Access Journals (Sweden)

    Ristić Dejan

    2011-01-01

    Full Text Available Introduction. In 1814 Giovanni Monteggia first described two cases of fractures of the proximal third of ulna with dislocation of the radial head. These fractures are more common in children than in adults, and mutual Monteggia fracture is a rare complication. This study presents a treatment course of a patient with bilateral Monteggia fracture. Case report. A 55- year-old patient was injured by falling in the yard. Radiography showed bilateral Monteggia fracture type II (by the Badon classification. Operative treatment of fracture was done by a compression plate on the right side and by the zuggurtung technique on the left one. Closed repositioning of the radial head was done on both sides. The patient was wearing a plaster splint for the upper arm for 21 days. After removing the fixation, the function of the elbow was determined by the Broberg Morrey score (BM which was on the right side 45.5 and on the left side 47.5. After the proper physical therapy, four months after the surgery, BM score was 100 on the right side, and 93 on the left one. Conclusion. Surgical treatment and early rehabilitation is the key for the return of good function of both elbows.

  9. [Simultaneous bilateral pneumothorax. Case report].

    Science.gov (United States)

    Paolini, A; Caminiti, F; Tosato, F; Ruggieri, M; Paolini, G; Carnevale, L; Corsini, F; Marano, S; Monsellato, I

    2001-04-01

    A case report of a 44 year-old white man admitted to the surgical unit for a bilateral simultaneous pneumothorax is presented. The pneumothorax occurred on day one after a surgical operation for discal hernia; in the past the patient already presented a right spontaneous pneumothorax at 32 years of age and a left pneumothorax at 37 years of age, both treated with a pleural drainage. A thoracic drain was bilaterally positioned with a good result only in the right side. The persistence of the left pneumothorax induced the authors to perform a postero-lateral thoracotomy bullae excision and pleurectomy with a good postoperative course. After a few months a new right pneumothorax occurred and the patient was treated with a right postero-lateral thoracotomy, bullae resection and pleurectomy. On the basis of the case reported, the authors consider the different opportunities in the treatment of spontaneous pneumothorax in relation to the present knowledges and technologies. Surgical procedure is to be preferred in case of persistence of pneumothorax despite a pleural drain and in case of pneumothorax in high risk subjects. Even if thoracoscopy seems to give better results regarding postoperative pain, it is not always possible with such a method to perform a careful pleurectomy neither to obtain it in all cases (above all in secondary pneumothorax). Every case must then be carefully studied to choose the best treatment at present available. PMID:11353349

  10. Danish Exports and Danish Bilateral Aid

    DEFF Research Database (Denmark)

    Hansen, Henrik; Rand, John

    Danish bilateral development assistance is aimed at reducing poverty in the partner countries. Even so, bilateral assistance may have secondary, or knock-on, effects, which are beneficial for Denmark. An important secondary effect is the prospect of increased export from Denmark to the partner...... countries. This Evaluation Study presents an econometric analysis of Danish exports to 144 countries over the period from 1981 to 2010. The analysis is based on the gravity model of bilateral trade; a structural model developed over decades and now the central model in analyses of bilateral trade flows...... and trade policies. The main result of the study is that Danish bilateral aid has a positive and statistically significant impact on Danish exports to the recipient countries. Bilateral development assistance may affect exports through several channels. Three of the main channels are direct aid tying...

  11. An Unusual Case of Neuralgic Amyotrophy Presenting with Bilateral Phrenic Nerve and Vocal Cord Paresis

    Directory of Open Access Journals (Sweden)

    F. Holtbernd

    2011-02-01

    Full Text Available Background: Neuralgic amyotrophy (brachial plexus neuropathy, brachial plexus neuritis, or Parsonage-Turner syndrome is an uncommon inflammatory condition typically characterized by acute and severe shoulder pain followed by paresis with muscle weakness and atrophy of the upper limb or shoulder girdle. We report an unusual clinical manifestation of neuralgic amyotrophy, namely bilateral phrenic nerve palsy with concomitant laryngeal paresis. Case Report: A 55-year-old male presented with orthopnea and aphonia after an episode of bilateral shoulder pain preceded by an upper respiratory tract infection. Spirometry, chest X-ray and videolaryngoscopy revealed bilateral and simultaneous paresis of the diaphragm and the vocal cords. Clinical examination at admission and at the 2-month follow-up did not show upper limb weakness or atrophy, except for a mild atrophy of the right supraspinatus muscle. An electromyography of the upper limb muscles and nerve conduction studies did not reveal signs of denervation. Analysis of the cerebrospinal fluid and an MRI of the neuraxis were unremarkable. After treatment with prednisolone, vocal cord function markedly improved within 8 weeks, whereas paresis of the diaphragm persisted. Conclusion: Shoulder pain followed by diaphragmatic paralysis with dyspnea and hoarseness may be a manifestation of neuralgic amyotrophy even if upper limb or shoulder girdle palsies are absent.

  12. New Curious Bilateral q-Series Identities

    Directory of Open Access Journals (Sweden)

    Frédéric Jouhet

    2012-10-01

    Full Text Available By applying a classical method, already employed by Cauchy, to a terminating curious summation by one of the authors, a new curious bilateral q-series identity is derived. We also apply the same method to a quadratic summation by Gessel and Stanton, and to a cubic summation by Gasper, respectively, to derive a bilateral quadratic and a bilateral cubic summation formula.

  13. Idebenone for Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Gueven, N

    2016-03-01

    Idebenone is a rapidly absorbed, safe and well-tolerated drug and is currently the only clinically proven treatment option for Leber's hereditary optic neuropathy (LHON) patients. Idebenone (Raxone®) is approved by the European Medicines Agency for the treatment of LHON and has been available on the European market since 2015. Due to its molecular mode of action of bypassing the defective mitochondrial complex I, idebenone leads to improved energy supply and a functional recovery of retinal ganglion cells during the acute stage of the disease, thereby preventing further vision loss and promoting recovery of vision. Thus, commencing treatment shortly after the onset of symptoms is likely to have the best therapeutic effect, a hypothesis that is supported by the available clinical data. PMID:27186591

  14. Leber hereditary optic neuropathy in Australia.

    Science.gov (United States)

    Mackey, D A; Buttery, R G

    1992-08-01

    Leber hereditary optic neuropathy (LHON) presents with sudden onset of visual loss mainly in young adult males. LHON is not uncommon in Australia, accounting for 2% of invalid blind pensions. We have identified 20 unrelated families carrying mitochondrial DNA mutations associated with LHON and 135 of 291 individuals with documented LHON are currently alive in Australia. The mean age of onset of visual loss for males was 26 years and for females 27 years, with a range from six to 65 years. The mean risk of visual loss was 20% for males and 4% for females. There are over 1750 male and female carriers living in Australia who have not yet lost vision; 600 carriers are under 24 years of age. The expected number of new cases of blindness from LHON is three to four per year. PMID:1449769

  15. Idebenone for Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Gueven, N

    2016-03-01

    Idebenone is a rapidly absorbed, safe and well-tolerated drug and is currently the only clinically proven treatment option for Leber's hereditary optic neuropathy (LHON) patients. Idebenone (Raxone®) is approved by the European Medicines Agency for the treatment of LHON and has been available on the European market since 2015. Due to its molecular mode of action of bypassing the defective mitochondrial complex I, idebenone leads to improved energy supply and a functional recovery of retinal ganglion cells during the acute stage of the disease, thereby preventing further vision loss and promoting recovery of vision. Thus, commencing treatment shortly after the onset of symptoms is likely to have the best therapeutic effect, a hypothesis that is supported by the available clinical data.

  16. Bilateral Clavicle Fracture in Two Newborn Infants

    Directory of Open Access Journals (Sweden)

    Esra Arun Ozer

    2011-12-01

    Full Text Available Background: The fracture of clavicle is the most frequently observed bone fracture as birth trauma and it is usually unilateral. It is seen following shoulder dystocia deliveries or breech presentation of macrosomic newborns.Case Presentation: We report two macrosomic newborns with bilateral clavicle fracture and brachial plexus palsy due to birth trauma. Chest X-rays confirmed bilateral fracture of clavicles. Both patients were recovered without any sequel.Conclusion: Bilateral clavicular fracture should be considered in any neonate with bilateral absent Moro reflexes.

  17. A case report of congenital sensory neuropathy with anhidrosis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1974-10-15

    Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint.

  18. Transcriptomic analyses of genes and tissues in inherited sensory neuropathies.

    Science.gov (United States)

    Sapio, Matthew R; Goswami, Samridhi C; Gross, Jacklyn R; Mannes, Andrew J; Iadarola, Michael J

    2016-09-01

    Inherited sensory neuropathies are caused by mutations in genes affecting either primary afferent neurons, or the Schwann cells that myelinate them. Using RNA-Seq, we analyzed the transcriptome of human and rat DRG and peripheral nerve, which contain sensory neurons and Schwann cells, respectively. We subdivide inherited sensory neuropathies based on expression of the mutated gene in these tissues, as well as in mouse TRPV1 lineage DRG nociceptive neurons, and across 32 human tissues from the Human Protein Atlas. We propose that this comprehensive approach to neuropathy gene expression leads to better understanding of the involved cell types in patients with these disorders. We also characterize the genetic "fingerprint" of both tissues, and present the highly tissue-specific genes in DRG and sciatic nerve that may aid in the development of gene panels to improve diagnostics for genetic neuropathies, and may represent specific drug targets for diseases of these tissues. PMID:27343803

  19. Prevalence of diabetic autonomic neuropathy measured by simple bedside tests

    DEFF Research Database (Denmark)

    Dyrberg, Torben Bech; Benn, Jette; Christiansen, J S;

    1981-01-01

    To investigate the prevalence of diabetic autonomic neuropathy, five simple bedside tests, beat-to-beat variation during quiet respiration, beat-to-beat variation during forced respiration, heart rate and blood pressure response to standing, heart rate response to exercise, and heart rate response....... The prevalence of diabetic autonomic neuropathy in the whole diabetic population indicated by abnormal response in beat-to-beat variation during forced respiration was 27%. Diabetic autonimic neuropathy increased in frequency with duration of disease. Patients with nephropathy or proliferative retinopathy had...... a significantly higher prevalence of diabetic autonomic neuropathy as indicated by abnormal beat-to-beat variation during forced respirations (p less than 0.01) than patients without these complications....

  20. Metabolic and cardiovascular responses to epinephrine in diabetic autonomic neuropathy

    DEFF Research Database (Denmark)

    Hilsted, J; Richter, E; Madsbad, S;

    1987-01-01

    Norepinephrine-induced vasoconstriction, which is mediated by alpha-adrenergic receptors, is accentuated in patients with autonomic neuropathy. In contrast, responses mediated by beta-adrenergic receptors, including vasodilatation and metabolic changes, have not been evaluated in these patients. ...

  1. Hereditary peripheral neuropathies of childhood: an overview for clinicians.

    Science.gov (United States)

    Wilmshurst, Jo M; Ouvrier, Robert

    2011-11-01

    This review focuses on the "pure" hereditary peripheral neuropathies where peripheral nerve disease is the main manifestation and does not address neurodegenerative disorders associated with but not dominated by peripheral neuropathy. Aetiologies of childhood-onset peripheral neuropathies differ from those of adult-onset, with more inherited conditions, especially autosomal recessive. Charcot-Marie-Tooth disease is the commonest neuromuscular disorder. The genetic labels of CMT (Charcot-Marie-Tooth) disease types 1-4 are the preferred sub-type terms. Clinical presentations and molecular genetic heterogeneity of hereditary peripheral neuropathies are diverse. For most patients worldwide, diagnostic studies are limited to clinical assessment. Such markers which could be used to identify specific sub-types include presentation in early childhood, scoliosis, marked sensory involvement, respiratory compromise, upper limb involvement, visual or hearing impairment, pyramidal signs and mental retardation. These key markers may assist targeted genetic testing and aid in diagnosing children where DNA testing is not possible.

  2. Nutritional optic and peripheral neuropathy: a case report

    OpenAIRE

    Nightingale, Laura M; Paviour, Dominic C.

    2009-01-01

    Introduction The link between nutritional status and either optic or peripheral neuropathies is well established with tobacco, ethanol, deficiencies in thiamine, vitamin A, B12, B3 and B6 and protein-energy malnutrition all being causative. Case presentation We describe the case of a 32-year-old Afro-Caribbean of Jamaican origin presenting with blurred vision and a painful burning sensation in his feet. The clinical features were consistent with optic and peripheral neuropathy. Conclusions Th...

  3. Nodes of Ranvier and Paranodes in Chronic Acquired Neuropathies

    OpenAIRE

    Carmen Cifuentes-Diaz; Odile Dubourg; Theano Irinopoulou; Marc Vigny; Sylvie Lachkar; Laurence Decker; Patrick Charnay; Natalia Denisenko; Thierry Maisonobe; Jean-Marc Léger; Karine Viala; Jean-Jacques Hauw; Jean-Antoine Girault

    2011-01-01

    Chronic acquired neuropathies of unknown origin are classified as chronic inflammatory demyelinating polyneuropathies (CIDP) and chronic idiopathic axonal polyneuropathies (CIAP). The diagnosis can be very difficult, although it has important therapeutic implications since CIDP can be improved by immunomodulating treatment. The aim of this study was to examine the possible abnormalities of nodal and paranodal regions in these two types of neuropathies. Longitudinal sections of superficial per...

  4. Therapeutische Überlegungen bei sensomotorischer diabetischer Neuropathie

    OpenAIRE

    Bührlen M

    2013-01-01

    Der Begriff der sensomotorischen diabetischen Neuropathie beschreibt einen heterogenen Beschwerdekomplex, der auf einer diabetesbedingten Schädigung des peripheren Nervensystems beruht. Bis zu 50 % der Menschen mit Diabetes mellitus leiden im Verlauf ihrer Erkrankung an Symptomen einer sensomotorischen Neuropathie. Chronische Schmerzen, Dysund Parästhesien sowie die Komplikation des diabetischen Fußsyndroms stellen für die Betroffenen gravierende Folgen dar. Die Optimierung der met...

  5. The clinical spectrum of inflammatory-angiopathic neuropathy.

    OpenAIRE

    Harati, Y; Niakan, E

    1986-01-01

    Thirty-three patients with inflammatory-angiopathic neuropathy diagnosed by sural nerve biopsy, were investigated to determine the underlying disease. Twenty-six patients had symmetrical sensorimotor polyneuropathy and seven had mononeuropathy multiplex. An aetiology for inflammatory-angiopathic neuropathy was found in only eight patients: typical collagen vascular disease in five and malignant tumour in three. Sixteen patients received prednisone and/or immunosuppressive drug therapy and 12 ...

  6. Leber’s Inherited Optic Neuropathy: A Large Family

    Directory of Open Access Journals (Sweden)

    Taylan Pekoz

    2012-04-01

    Full Text Available Leber's hereditary optic neuropathy characterized by loss of central vision is often seen in men and a maternally inherited disease. Here, admitted to our clinic with complaints of unilateral visual loss was diagnosed as Leber's hereditary optic neuropathy which was confirmed by the presence of a mutation at 3460G>A position. [Cukurova Med J 2012; 37(2.000: 121-124

  7. Hereditary sensory autonomic neuropathy and anaesthesia - a case report

    Directory of Open Access Journals (Sweden)

    Nandini Dave

    2007-01-01

    Full Text Available The hereditary sensory and autonomic neuropathies are a rare group of disorders characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. Autonomic dysfunction is present to a variable degree and can have several implications for anaesthesia. We report the case of a patient with Hereditary sensory and autonomic neuropathy who was posted for a below knee amputation and discuss the anaesthesia management.

  8. Oxidative Injury and Neuropathy in Diabetes and Impaired Glucose Tolerance

    OpenAIRE

    Russell, James W.; Berent-Spillson, Alison; Vincent, Andrea M.; Freimann, Catherine L.; Sullivan, Kelli A; Eva L Feldman

    2008-01-01

    Clinical studies suggest that impaired glucose tolerance (IGT) is associated with the development of neuropathy. The aim of the current study was to determine if neuropathy developed in the female Zucker Diabetic Fatty (ZDF) rat, an animal model of IGT and type 2 diabetes. The ZDF rat develops impaired glucose tolerance (IGT) when fed a control diet, and frank diabetes when fed a high fat diet. Following 10 weeks of hyperglycemia, sensory nerve action potentials (SNAP) and compound motor acti...

  9. Scleroderma, stroke, optic neuropathy : a rare association.

    Directory of Open Access Journals (Sweden)

    Das C

    2002-10-01

    Full Text Available A known case of scleroderma presented with right hemiparesis, focal seizures, optic atrophy and gangrene of digits. There was no evidence of peripheral nerve or muscle involvement. MRI showed multifocal infarcts in both cerebral hemispheres. MR angiography revealed poor flow in bilateral carotid arteries with collateralization from posterior circulation. She improved with phenytoin, nifedipine, antibiotics and immunosuppressants. The rarity of central nervous system affliction in scleroderma and large vessel vasculitis is discussed along with review of literature.

  10. Bilateral metachronous breast cancer with bilateral recurrences: A case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Park, So Hyun; Sohn, Yu Mee [Dept. of Radiology, Kyung Hee University Hospital, College of Medicine, Kyung Hee University, Seoul (Korea, Republic of); Kim, Eun Kyung [Dept. of Radiology, Research Institute of Radiological Science, Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2014-05-15

    The incidence of bilateral breast cancer has been reported to range from 0.4% to 14%, and it increases gradually as a result of improved early detection capabilities and longer survival times. We report a rare case where the bilateral breast cancers occurred as a metachronous bilateral breast cancer with bilateral recurrences, detected by mammography, and the rapid growth of tumor that manifested as microcalcification and skin thickening within 3 months.

  11. A Rare Entity: Bilateral First Rib Fractures Accompanying Bilateral Scapular Fractures

    Directory of Open Access Journals (Sweden)

    Gultekin Gulbahar

    2015-01-01

    Full Text Available First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare entity.

  12. Bilateral fracture in atrophic mandible

    Directory of Open Access Journals (Sweden)

    Luciana SIGNORINI

    2006-11-01

    Full Text Available The increase of the elderly population in Brazil has brought a higher number of patients of this age level for dental treatment in several areas of dentistry.Elderly patients are exposed to many kinds of aggressor agents, such as falling down and accidents that cause maxillofacial fractures, which require the specialized assistance of a maxillofacial surgeon. The elderly present a differentiated condition involving systemic changes and use of several drugs that must be taken into consideration when planning the therapeutics ofeach case. The treatment of facial trauma must aim fast recovery along with minimal morbidity. The authors present a case of mandible bilateral fracture in edentulous elderly patient with severe atrophy, treated with titanium plate and screws osteosynthesis. The healing period was satisfactory, without postoperative complications in 18 months follow up.

  13. Potential risk factors for diabetic neuropathy: a case control study

    Directory of Open Access Journals (Sweden)

    Nooraei Mahdi

    2005-12-01

    Full Text Available Abstract Background Diabetes mellitus type II afflicts at least 2 million people in Iran. Neuropathy is one of the most common complications of diabetes and lowers the patient's quality of life. Since neuropathy often leads to ulceration and amputation, we have tried to elucidate the factors that can affect its progression. Methods In this case-control study, 110 diabetic patients were selected from the Shariati Hospital diabetes clinic. Michigan Neuropathic Diabetic Scoring (MNDS was used to differentiate cases from controls. The diagnosis of neuropathy was confirmed by nerve conduction studies (nerve conduction velocity and electromyography. The multiple factors compared between the two groups included consumption of angiotensin converting enzyme inhibitors (ACEI, blood pressure, serum lipid level, sex, smoking, method of diabetes control and its quality. Results Statistically significant relationships were found between neuropathy and age, gender, quality of diabetes control and duration of disease (P values in the order: 0.04, 0.04, Conclusion In this study, hyperglycemia was the only modifiable risk factor for diabetic neuropathy. Glycemic control reduces the incidence of neuropathy, slows its progression and improves the diabetic patient's quality of life. More attention must be paid to elderly male diabetic patients with poor diabetes control with regard to regular foot examinations and more practical education.

  14. Morphologic Changes in Autonomic Nerves in Diabetic Autonomic Neuropathy

    Directory of Open Access Journals (Sweden)

    Heung Yong Jin

    2015-12-01

    Full Text Available Diabetic neuropathy is one of the major complications of diabetes, and it increases morbidity and mortality in patients with both type 1 diabetes mellitus (T1DM and type 2 diabetes mellitus (T2DM. Because the autonomic nervous system, for example, parasympathetic axons, has a diffuse and wide distribution, we do not know the morphological changes that occur in autonomic neural control and their exact mechanisms in diabetic patients with diabetic autonomic neuropathy (DAN. Although the prevalence of sympathetic and parasympathetic neuropathy is similar in T1DM versus T2DM patients, sympathetic nerve function correlates with parasympathetic neuropathy only in T1DM patients. The explanation for these discrepancies might be that parasympathetic nerve function was more severely affected among T2DM patients. As parasympathetic nerve damage seems to be more advanced than sympathetic nerve damage, it might be that parasympathetic neuropathy precedes sympathetic neuropathy in T2DM, which was Ewing's concept. This could be explained by the intrinsic morphologic difference. Therefore, the morphological changes in the sympathetic and parasympathetic nerves of involved organs in T1DM and T2DM patients who have DAN should be evaluated. In this review, evaluation methods for morphological changes in the epidermal nerves of skin, and the intrinsic nerves of the stomach will be discussed.

  15. Marfan's syndrome presenting as bilateral spontaneous pneumothorax.

    OpenAIRE

    Gawkrodger, D J

    1981-01-01

    A case of bilateral spontaneous pneumothorax in a 14-year-old girl with previously undiagnosed Marfan's syndrome is described. The pulmonary abnormalities of Marfan's syndrome are not commonly encountered and bilateral pneumothorax is itself a rare event which, in most instances, has been reported following invasive procedures.

  16. Bilateral failure of adduction following orbital decompression.

    OpenAIRE

    Kinsella, F; Kyle, P.; Stansfield, A

    1990-01-01

    We report a case of bilateral complete failure of adduction following bilateral translid antralethmoidal orbital decompression. We believe the probable mechanism is neuropraxia (temporary dysfunction) of the third cranial nerves' supply to the medial recti, owing to these nerves' occupying an anatomically abnormal position. Partial recovery of adduction occurred over the ensuing six months.

  17. Secondary polycythaemia associated with bilateral renal lymphocoeles.

    OpenAIRE

    Burton, I E; Sambrook, P.; McWilliam, L J

    1994-01-01

    A patient with a 15 year history of secondary polycythaemia due to renal erythropoietin hypersecretion is presented. Subsequent spontaneous development of bilateral renal lymphocoeles, which contained high erythropoietin levels, was shown by computerized tomography. The lymphocoeles were successfully treated by bilateral peritoneal marsupialization. No cause for the persistent polycythaemia or lymphocoeles was found at laparotomy or on renal biopsy.

  18. Simultaneous and spontaneous bilateral quadriceps tendons rupture.

    Science.gov (United States)

    Celik, Evrim Coşkun; Ozbaydar, Mehmet; Ofluoglu, Demet; Demircay, Emre

    2012-07-01

    Simultaneous and spontaneous bilateral quadriceps tendon rupture is an uncommon injury that is usually seen in association with multiple medical conditions and some medications. We report a case of simultaneous and spontaneous bilateral quadriceps tendon rupture that may be related to the long-term use of a statin.

  19. Bilateral spontaneous adrenal haemorrhage complicating acute pancreatitis

    International Nuclear Information System (INIS)

    Bilateral adrenal haemorrhage is an event that mandates prompt diagnosis and treatment to prevent primary adrenocortical insufficiency and potential death. Presentation can be non-specific and incidentally diagnosed with imaging alone, primarily CT. We present a case of acute pancreatitis with spontaneous bilateral adrenal haemorrhage and briefly discuss imaging and treatment implications

  20. Bilateral breast involvement in acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Hakeem A, Mandakini BT, Asif K, Firdaus, Shagufta RC

    2013-04-01

    Full Text Available Breast involvement by leukemic infiltration is usually bilateral, but may be unilateral. Clinically patients can present with either single or multiple masses, or with diffuse breast engorgement, with or without nodularity. The affected patients are predominantly young adults. We present a case of an adolescent girl with acute myeloid leukemia having bilateral breast infiltration by leukemic cells.

  1. Concurrent bilateral ectopic pregnancy: a rarity

    Directory of Open Access Journals (Sweden)

    Prabhleen Kaur

    2015-08-01

    Full Text Available Bilateral ectopic pregnancy is a rare twin gestation with only a few cases reported in the literature. We report a 30 year old woman without any high risk factor for ectopic pregnancy, who had concurrent bilateral ectopic pregnancy. A 30 year old female presented to the Gynecology emergency department complaining of vaginal bleeding and abdominal pain. The presumptive diagnosis of ruptured left sided ectopic pregnancy was made on basis of clinical findings and ultrasound finings. An emergency laparotomy was done revealed a hemoperitoneum of 1.5 liters, a ruptured left tubal pregnancy with active bleeding and right tubal un-ruptured ectopic was found. A bilateral salpingectomy was performed. Histopathology confirmed presence of chorionic villi in both tubes. In theory, laparoscopic salpingostomy is the best surgical approach in bilateral tubal pregnancy. However, bilateral salpingectomy may be necessary when both tubes are extensively damaged or are actively bleeding. Successful pregnancies have been reported after conservative surgical treatment of bilateral ectopic, but the risk of recurrence is high. Our decision for an emergency laparotomy followed by bilateral salpingectomy was based on the fact that the patient presented with acute abdomen and was haemodynamically unstable and there was extensive bilateral tubal damage. As the incidence of ectopic pregnancies is increasing concurrently with the incidences of pelvic inflammatory disease and use of assisted fertility techniques; it may be that these and ldquo;rare ectopics and rdquo; will become less uncommon. [Int J Reprod Contracept Obstet Gynecol 2015; 4(4.000: 1197-1199

  2. Acral osteolysis in bilateral compartment syndrome

    Directory of Open Access Journals (Sweden)

    Iram Saeed

    2008-08-01

    Full Text Available Carpal tunnel syndrome is a common neurological condition with rare yet potentially serious cutaneous and skeletal complications. We present a case of mutilating/ulcerating bilateral carpal tunnel syndrome in a 63 year old female. Radiographs showed symmetrical acral osteolysis in the index and middle fingers distal phalanges bilaterally. Carpal tunnel decompressions provided symptomatic relief.

  3. Simultaneous and spontaneous bilateral quadriceps tendons rupture.

    Science.gov (United States)

    Celik, Evrim Coşkun; Ozbaydar, Mehmet; Ofluoglu, Demet; Demircay, Emre

    2012-07-01

    Simultaneous and spontaneous bilateral quadriceps tendon rupture is an uncommon injury that is usually seen in association with multiple medical conditions and some medications. We report a case of simultaneous and spontaneous bilateral quadriceps tendon rupture that may be related to the long-term use of a statin. PMID:22561379

  4. The Guided Bilateral Filter: When the Joint/Cross Bilateral Filter Becomes Robust

    OpenAIRE

    Caraffa, Laurent; Tarel, Jean Philippe; Charbonnier, Pierre

    2015-01-01

    The bilateral filter and its variants such as the Joint/Cross bilateral filter are well known edge-preserving image smoothing tools used in many applications. The reason of this success is its simple definition and the possibility of many adaptations. The bilateral filter is known to be related to robust estimation. This link is lost by the ad hoc introduction of the guide image in the Joint/Cross bilateral filter. We here propose a new way to derive the Joint/Cross bilateral filter as a part...

  5. Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy

    Science.gov (United States)

    Matilde da Silva-Costa, Sueli; Balieiro, Juliane Cristina; Fernandes, Marcela Scabello Amaral; Alves, Rogério Marins; Guerra, Andrea Trevas Maciel; Marcondes, Ana Maria; Sartorato, Edi Lúcia

    2016-01-01

    Purpose Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA mutations: G11778A, T14484C, and G3460A. The other 5% of cases are due to other rare mutations related to the disease. The aim of this study was to identify the prevalence and spectrum of LHON mtDNA mutations, including the haplogroup, in a cohort of Brazilian patients with optic neuropathy and to evaluate the usefulness of iPLEX Gold/matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) technology in detecting LHON mutations. Methods We analyzed a total of 101 patients; 67 had a clinical diagnosis of LHON and 34 had optic neuropathy of unknown etiology. Direct sequencing and iPLEX Gold/MALDI-TOF MS were used to screen for the most common pathogenic point mutations in LHON, together with the rare mutations G3733A, C4171A, T10663C, G14459A, C14482G, A14495G, C14568T, and C14482A. Results We identified mutations in 36 patients, of whom 83.3% carried the G11778A mutation and 16.7% carried the T14484C mutation. In individuals with mutations, the haplogroups found were L1/L2, L3, C, R, U, D, and H. Rare mutations were not detected in any of the patients analyzed. Conclusions The frequencies of the main LHON mutations were similar to those previously reported for Latin America. A different frequency was found only for the A3460G mutation. The most frequent haplogroups identified were of African origin. The iPLEX Gold/MALDI-TOF MS technology proved to be highly accurate and efficient for screening mutations and identifying the haplogroups related to LHON. The MassArray platform, combined with other techniques, enabled definitive diagnosis of LHON in 36% (36/101) of the cases studied. PMID:27582625

  6. Frequency of sensory motor neuropathy in type 2 diabetics

    International Nuclear Information System (INIS)

    To determine the frequency of sensory motor neuropathy in type 2 diabetics at the time of presentation to the hospital. The study was conducted at Medical Unit-1, Jinnah Postgraduate Medical Center, Karachi, from November 2005 to April 2006. Patients of different ages and either gender with history of confirmed diabetes for ten years and above, on regular follow up were included. Those with non-diabetic causes of hyperglycemia or neuropathy were excluded. Relevant features like age, gender, treatment, symptoms , signs, nerve conduction study (NCS) results, duration of Diabetes mellitus (DM), fasting blood sugar (FBS) and serum values of glycosylated hemoglobin (HB1Ac) were recorded. Out of a total of 300 patients, there were 111 female and 189 male patients. Mean age was 58 +- 11.23 years. Mean duration of diabetes was 13.6+-5.48 years. One hundred and twenty three patients had symptoms of neuropathy. Clinical examination revealed mixed sensory and motor signs in 135 (45%) patients. Nerve conduction studies revealed abnormalities in 159 (53%) patients. Among patients having an abnormal NCS, the fasting blood glucose (FBS) was 120mg/dl in 147 (91%) patients. The glycosylated hemoglobin ranged from 4-15% with mean of 8.1% and standard deviation of 2.5%. This showed significant association (p <0.001) of peripheral neuropathy with abnormal FBS, HB1Ac and duration of diabetes. NCS diagnosed the neuropathy in more than half of the total number of patients, including both symptomatic and asymptomatic patients. Majority of the patients revealed symmetrical and a mixed type (motor and sensory) polyneuropathy. This shows that nerve conduction may not be concordant with the clinical signs and symptoms. NCS detects neuropathy much earlier, before it becomes evident clinically. The neuropathy is associated with abonromal fasting blood sugar, HBIAC and duration of diabetes. (author)

  7. Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber’s Hereditary Optic Neuropathy Cells

    Directory of Open Access Journals (Sweden)

    Micol Falabella

    2016-01-01

    Full Text Available Here we have collected evidence suggesting that chronic changes in the NO homeostasis and the rise of reactive oxygen species bioavailability can contribute to cell dysfunction in Leber’s hereditary optic neuropathy (LHON patients. We report that peripheral blood mononuclear cells (PBMCs, derived from a female LHON patient with bilateral reduced vision and carrying the pathogenic mutation 11778/ND4, display increased levels of reactive oxygen species (ROS and reactive nitrogen species (RNS, as revealed by flow cytometry, fluorometric measurements of nitrite/nitrate, and 3-nitrotyrosine immunodetection. Moreover, viability assays with the tetrazolium dye MTT showed that lymphoblasts from the same patient are more sensitive to prolonged NO exposure, leading to cell death. Taken together these findings suggest that oxidative and nitrosative stress cooperatively play an important role in driving LHON pathology when excess NO remains available over time in the cell environment.

  8. Features of mtDNA mutation patterns in European pedigrees and sporadic cases with leber hereditary optic neuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Obermaier-Kusser, B.; Schubring, S.; Paprotta, A.; Meitinger, T.; Jaksch, M.; Gerbitz, K.D. [Univ. of Munich (Germany); Lorenz, B. [Univ. of Rogensburgh (Germany); Zerres, K. [Univ. of Bonn (Germany); Meire, F. [Univ. of Ghent (Belgium); Cochaux, P. [Univ. of Brussels (Belgium)] [and others

    1994-11-01

    Leber hereditary optic neuropathy (LHON) is maternally transmitted and is characterized by bilateral loss of central vision in young adults as a result of optic nerve degeneration. Fifteen transition mutations located in different genes for the mitochondrially encoded subunits of respiratory chain complexes have been associated thus far with the disease. Genetic studies have led to the classification of the pathogenic significance of these different mutations. However, more research is required to determine the causality of the mutations and the penetrance of the disease. The present study compares studies of populations of different ethnic origins, namely European LHON pedigrees and sporadic cases, in order to elucidate the pathogenic mechanisms involved. 21 refs., 2 figs., 1 tab.

  9. Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber's Hereditary Optic Neuropathy Cells

    Science.gov (United States)

    Santini, Paolo

    2016-01-01

    Here we have collected evidence suggesting that chronic changes in the NO homeostasis and the rise of reactive oxygen species bioavailability can contribute to cell dysfunction in Leber's hereditary optic neuropathy (LHON) patients. We report that peripheral blood mononuclear cells (PBMCs), derived from a female LHON patient with bilateral reduced vision and carrying the pathogenic mutation 11778/ND4, display increased levels of reactive oxygen species (ROS) and reactive nitrogen species (RNS), as revealed by flow cytometry, fluorometric measurements of nitrite/nitrate, and 3-nitrotyrosine immunodetection. Moreover, viability assays with the tetrazolium dye MTT showed that lymphoblasts from the same patient are more sensitive to prolonged NO exposure, leading to cell death. Taken together these findings suggest that oxidative and nitrosative stress cooperatively play an important role in driving LHON pathology when excess NO remains available over time in the cell environment. PMID:26881022

  10. Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber's Hereditary Optic Neuropathy Cells.

    Science.gov (United States)

    Falabella, Micol; Forte, Elena; Magnifico, Maria Chiara; Santini, Paolo; Arese, Marzia; Giuffrè, Alessandro; Radić, Kristina; Chessa, Luciana; Coarelli, Giulia; Buscarinu, Maria Chiara; Mechelli, Rosella; Salvetti, Marco; Sarti, Paolo

    2016-01-01

    Here we have collected evidence suggesting that chronic changes in the NO homeostasis and the rise of reactive oxygen species bioavailability can contribute to cell dysfunction in Leber's hereditary optic neuropathy (LHON) patients. We report that peripheral blood mononuclear cells (PBMCs), derived from a female LHON patient with bilateral reduced vision and carrying the pathogenic mutation 11778/ND4, display increased levels of reactive oxygen species (ROS) and reactive nitrogen species (RNS), as revealed by flow cytometry, fluorometric measurements of nitrite/nitrate, and 3-nitrotyrosine immunodetection. Moreover, viability assays with the tetrazolium dye MTT showed that lymphoblasts from the same patient are more sensitive to prolonged NO exposure, leading to cell death. Taken together these findings suggest that oxidative and nitrosative stress cooperatively play an important role in driving LHON pathology when excess NO remains available over time in the cell environment.

  11. Bilateral panophthalmitis in dengue fever

    Directory of Open Access Journals (Sweden)

    Sangeetha Sriram

    2015-01-01

    Full Text Available We report the case of a 25-year-old male patient who presented with bilateral panophthalmitis as the initial ocular manifestation of dengue fever. The diagnosis was a little confusing as he initially presented with features suggestive of retrobulbar hemorrhage secondary to his very low platelet count, which is a common feature of dengue fever. Ophthalmic complications are usually seen in young adults who often present at the nadir of thrombocytopenia. Ocular findings may include anterior uveitis, vitritis, retinal hemorrhages, retinal vascular sheathing, yellow subretinal dots, retinal pigment epithelium (RPE mottling, foveolitis that is clinically seen as a round subretinal yellowish lesion at the fovea, retinochoroiditis, choroidal effusion, optic disc swelling, optic neuritis, neuroretinitis, and oculomotor nerve palsy. [1] There is only one reported case of unilateral endogenous panophthalmitis due to dengue fever. Hence, clinicians and ophthalmologists have to be aware of this vision-threatening complication of dengue for early recognition and prompt treatment to save the vision of these young patients and prevent morbidity.

  12. Bilateral inferior petrosal sinus sampling

    Science.gov (United States)

    Grossrubatscher, Erika; Dalino Ciaramella, Paolo; Boccardi, Edoardo

    2016-01-01

    Simultaneous bilateral inferior petrosal sinus sampling (BIPSS) plays a crucial role in the diagnostic work-up of Cushing’s syndrome. It is the most accurate procedure in the differential diagnosis of hypercortisolism of pituitary or ectopic origin, as compared with clinical, biochemical and imaging analyses, with a sensitivity and specificity of 88–100% and 67–100%, respectively. In the setting of hypercortisolemia, ACTH levels obtained from venous drainage of the pituitary are expected to be higher than the levels of peripheral blood, thus suggesting pituitary ACTH excess as the cause of hypercortisolism. Direct stimulation of the pituitary corticotroph with corticotrophin-releasing hormone enhances the sensitivity of the procedure. The procedure must be undertaken in the presence of hypercortisolemia, which suppresses both the basal and stimulated secretory activity of normal corticotrophic cells: ACTH measured in the sinus is, therefore, the result of the secretory activity of the tumor tissue. The poor accuracy in lateralization of BIPSS (positive predictive value of 50–70%) makes interpetrosal ACTH gradient alone not sufficient for the localization of the tumor. An accurate exploration of the gland is recommended if a tumor is not found in the predicted area. Despite the fact that BIPSS is an invasive procedure, the occurrence of adverse events is extremely rare, particularly if it is performed by experienced operators in referral centres. PMID:27352844

  13. [True hermaphroditism with bilateral ovotestis].

    Science.gov (United States)

    Güitrón, A; Forsbach, G; González, J M; Garza, J G; Vázquez, J; Espinoza, G

    1998-01-01

    A nineteen years old woman with ambiguous external genitalia was studied. This condition had been previously identified as a newborn, but her parents refused medical attention and it was reared as a girl. At 12-years, she began spontaneous mammary development, appearing pubic and axillary hair, and clitoral enlargement. The menarche occurred at 15-years and it was followed by irregular periods. Physical examination, showed absence of hirsutism and acne, normal mammary development equivalent to grade V of Tanner. The external genitalia showed fused labio-scrotal folds with an small introitus. The urethral meatus was absent and was later located inside the introitus. There was a big phallus similar to an adult penis with a normal glans, flexed by a chordee. Hormonal determinations discarded congenital adrenal hyperplasia. The karyotype was 46,XX and testosterone levels were in adult male range. Pelvic ultrasonography disclosed a normal uterus and both gonads in confirmed by laparoscopy identifying bilateral ovotestis. Testicular tissue was removed and plastic reconstruction of female genitals was done. PMID:9528217

  14. Bilateral inferior petrosal sinus sampling.

    Science.gov (United States)

    Zampetti, Benedetta; Grossrubatscher, Erika; Dalino Ciaramella, Paolo; Boccardi, Edoardo; Loli, Paola

    2016-07-01

    Simultaneous bilateral inferior petrosal sinus sampling (BIPSS) plays a crucial role in the diagnostic work-up of Cushing's syndrome. It is the most accurate procedure in the differential diagnosis of hypercortisolism of pituitary or ectopic origin, as compared with clinical, biochemical and imaging analyses, with a sensitivity and specificity of 88-100% and 67-100%, respectively. In the setting of hypercortisolemia, ACTH levels obtained from venous drainage of the pituitary are expected to be higher than the levels of peripheral blood, thus suggesting pituitary ACTH excess as the cause of hypercortisolism. Direct stimulation of the pituitary corticotroph with corticotrophin-releasing hormone enhances the sensitivity of the procedure. The procedure must be undertaken in the presence of hypercortisolemia, which suppresses both the basal and stimulated secretory activity of normal corticotrophic cells: ACTH measured in the sinus is, therefore, the result of the secretory activity of the tumor tissue. The poor accuracy in lateralization of BIPSS (positive predictive value of 50-70%) makes interpetrosal ACTH gradient alone not sufficient for the localization of the tumor. An accurate exploration of the gland is recommended if a tumor is not found in the predicted area. Despite the fact that BIPSS is an invasive procedure, the occurrence of adverse events is extremely rare, particularly if it is performed by experienced operators in referral centres. PMID:27352844

  15. Bilateral inferior petrosal sinus sampling

    Directory of Open Access Journals (Sweden)

    Benedetta Zampetti

    2016-08-01

    Full Text Available Simultaneous bilateral inferior petrosal sinus sampling (BIPSS plays a crucial role in the diagnostic work-up of Cushing’s syndrome. It is the most accurate procedure in the differential diagnosis of hypercortisolism of pituitary or ectopic origin, as compared with clinical, biochemical and imaging analyses, with a sensitivity and specificity of 88–100% and 67–100%, respectively. In the setting of hypercortisolemia, ACTH levels obtained from venous drainage of the pituitary are expected to be higher than the levels of peripheral blood, thus suggesting pituitary ACTH excess as the cause of hypercortisolism. Direct stimulation of the pituitary corticotroph with corticotrophin-releasing hormone enhances the sensitivity of the procedure. The procedure must be undertaken in the presence of hypercortisolemia, which suppresses both the basal and stimulated secretory activity of normal corticotrophic cells: ACTH measured in the sinus is, therefore, the result of the secretory activity of the tumor tissue. The poor accuracy in lateralization of BIPSS (positive predictive value of 50–70% makes interpetrosal ACTH gradient alone not sufficient for the localization of the tumor. An accurate exploration of the gland is recommended if a tumor is not found in the predicted area. Despite the fact that BIPSS is an invasive procedure, the occurrence of adverse events is extremely rare, particularly if it is performed by experienced operators in referral centres.

  16. Traumatic Optic Neuropathy – A Conundrum

    Science.gov (United States)

    Selvaraj, Vinoth Kanna; Devanathan, Vasudevan

    2016-01-01

    Visual impairment following head injury may be an enigma especially if the onset of symptoms were to be few days after the actual trauma and the bias arising out of the initial normal ophthalmological examination is not neutralised by unbiased repeated formal clinical evaluation aided with electrophysiology. We report and discuss here a 32-year-old lady with delayed onset of indirect traumatic visual loss with anaemia who failed to improve after blood transfusion but improved immediately following steroid therapy seven days after trauma. Though steroids have not been shown to have a significant contribution on outcomes following Traumatic optic neuropathy, this report rekindles its role in delayed progressive visual loss following head trauma and the need to re-analyse the role of steroids in patients with delayed progressive visual disturbance following head injury excluding those with acute onset symptoms in view of different pathologies in both these presentations. This paper also highlights potential mechanisms for the two major types of presentation. PMID:27134913

  17. CURRENT THERAPEUTIC STRATEGY IN DIABETIC NEUROPATHY

    Directory of Open Access Journals (Sweden)

    Kaur Parminder

    2012-03-01

    Full Text Available Diabetic neuropathy (DN is a group of multifactorial disorder in diabetic patients, which affects neuronal function of the whole body and is accompanied by nephropathy and angiopathy. Its prevalence increases with duration of diabetes and hyperglycaemia which can induce oxidative stress resulting in activation of multiple pathways which can damage the neurons alone or in combination. Symptoms of DN are prominent early in type 2 than in type 1. Neuropathic pain which can occur continuously only in 20-30% of the patients, otherwise pain was not reported. The drugs available for DN were not able to cure the disease but provide only symptomatic relief and were also associated with major side effects. Current therapy provided in this review alleviates the symptoms in clinical trials and thus will be recommended in order to stop the progression of disease. Despite the recent understanding regarding the pathogenesis of disease, till date only two drugs were approved by FDA for DN, α-lipoic acid is available in several countries and epalrestat in Japan, which is also associated with side effects but they are tolerable.

  18. Phenotypic variability of TRPV4 related neuropathies

    Science.gov (United States)

    Evangelista, Teresinha; Bansagi, Boglarka; Pyle, Angela; Griffin, Helen; Douroudis, Konstantinos; Polvikoski, Tuomo; Antoniadi, Thalia; Bushby, Kate; Straub, Volker; Chinnery, Patrick F.; Lochmüller, Hanns; Horvath, Rita

    2015-01-01

    Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene have been associated with autosomal dominant skeletal dysplasias and peripheral nervous system syndromes (PNSS). PNSS include Charcot–Marie–Tooth disease (CMT) type 2C, congenital spinal muscular atrophy and arthrogryposis and scapuloperoneal spinal muscular atrophy. We report the clinical, electrophysiological and muscle biopsy findings in two unrelated patients with two novel heterozygous missense mutations in the TRPV4 gene. Whole exome sequencing was carried out on genomic DNA using Illumina TruseqTM 62Mb exome capture. Patient 1 harbours a de novo c.805C > T (p.Arg269Cys) mutation. Clinically, this patient shows signs of both scapuloperoneal spinal muscular atrophy and skeletal dysplasia. Patient 2 harbours a novel c.184G > A (p.Asp62Asn) mutation. While the clinical phenotype is compatible with CMT type 2C with the patient's muscle harbours basophilic inclusions. Mutations in the TRPV4 gene have a broad phenotypic variability and disease severity and may share a similar pathogenic mechanism with Heat Shock Protein related neuropathies. PMID:25900305

  19. Strategies and Methods for the Treatment of Diabetic Neuropathy Using Integrative Chinese and Western Medicine

    Institute of Scientific and Technical Information of China (English)

    HENG Xian-pei

    2008-01-01

    @@ Diabetic neuropathy (DN) is the most common metabolic neuropathy in clinics, not only in diabetes patients (>60%), but also in pre-diabetic (8%) and normal persons (5%)(1). Its pathogenesis has not been fully understood up to now.

  20. Effectiveness of combined alprostadil and pancreatic kininogenas in treating gerontal diabetic peripheral neuropathy

    Institute of Scientific and Technical Information of China (English)

    张玉

    2013-01-01

    Objective To observe the clinical effectiveness of alprostadil combined with pancreatic kininogenas in the treatment of gerontal diabetic peripheral neuropathy.Methods Totally 90 gerontal patients with diabetic peripheral neuropathy were randomly divided into three

  1. The role of serum methylglyoxal on diabetic peripheral and cardiovascular autonomic neuropathy

    DEFF Research Database (Denmark)

    Hansen, C. S.; Jensen, T.M.; Jensen, J S;

    2015-01-01

    AIMS: Cardiovascular autonomic neuropathy and diabetic peripheral neuropathy are common diabetic complications and independent predictors of cardiovascular disease. The glucose metabolite methylglyoxal has been suggested to play a causal role in the pathogeneses of diabetic peripheral neuropathy...... and possibly diabetic cardiovascular autonomic neuropathy. The aim of this study was to investigate the cross-sectional association between serum methylglyoxal and diabetic peripheral neuropathy and cardiovascular autonomic neuropathy in a subset of patients in the ADDITION-Denmark study with short-term screen......-detected Type 2 diabetes (duration ~ 5.8 years). METHODS: The patients were well controlled with regard to HbA(1c), lipids and blood pressure. Cardiovascular autonomic neuropathy was assessed by measures of resting heart rate variability and cardiovascular autonomic reflex tests. Diabetic peripheral neuropathy...

  2. Myanmarese Neuropathy: Clinical Description of Acute Peripheral Neuropathy Detected among Myanmarese Refugees in Malaysia.

    Science.gov (United States)

    Fu Liong, Hiew; Santhi, Datuk Puvanarajah; Shanthi, Viswanathan; Mohd Hanip, Rafia

    2014-01-01

    Background. Since 2008, we have observed an increasing number of Myanmarese refugees in Malaysia being admitted for acute/subacute onset peripheral neuropathy. Most of them had a preceding history of starvation. Methods. We retrospectively studied the clinical features of all Myanmarese patients admitted with peripheral neuropathy from September 2008 to January 2014. Results. A total of 24 patients from the Chin, Rohingya, and Rakhine ethnicities (mean age, 23.8 years; male, 96%) had symmetrical, ascending areflexic weakness with at least one additional presenting symptom of fever, lower limb swelling, vomiting, abdominal pain, or difficulty in breathing. Twenty (83.3%) had sensory symptoms. Ten (41.6%) had cranial nerve involvement. Nineteen patients had cerebrospinal fluid examinations but none with evidence of albuminocytological dissociation. Neurophysiological assessment revealed axonal polyneuropathy, predominantly a motor-sensory subtype. Folate and vitamin B12 deficiencies were detected in 31.5% of them. These findings suggested the presence of a polyneuropathy related to nutrition against a backdrop of other possible environmental factors such as infections, metabolic disorders, or exposure to unknown toxin. Supportive treatment with appropriate vitamins supplementation improved functional outcome in most patients. Conclusion. We report a spectrum of acquired reversible neurological manifestations among Myanmarese refugees likely to be multifactorial with micronutrient deficiencies playing an important role in the pathogenesis. PMID:27350989

  3. Speech identification and cortical potentials in individuals with auditory neuropathy

    Directory of Open Access Journals (Sweden)

    Vanaja CS

    2008-03-01

    Full Text Available Abstract Background Present study investigated the relationship between speech identification scores in quiet and parameters of cortical potentials (latency of P1, N1, and P2; and amplitude of N1/P2 in individuals with auditory neuropathy. Methods Ten individuals with auditory neuropathy (five males and five females and ten individuals with normal hearing in the age range of 12 to 39 yr participated in the study. Speech identification ability was assessed for bi-syllabic words and cortical potentials were recorded for click stimuli. Results Results revealed that in individuals with auditory neuropathy, speech identification scores were significantly poorer than that of individuals with normal hearing. Individuals with auditory neuropathy were further classified into two groups, Good Performers and Poor Performers based on their speech identification scores. It was observed that the mean amplitude of N1/P2 of Poor Performers was significantly lower than that of Good Performers and those with normal hearing. There was no significant effect of group on the latency of the peaks. Speech identification scores showed a good correlation with the amplitude of cortical potentials (N1/P2 complex but did not show a significant correlation with the latency of cortical potentials. Conclusion Results of the present study suggests that measuring the cortical potentials may offer a means for predicting perceptual skills in individuals with auditory neuropathy.

  4. Bilateral Petit’s Triangle Hernia

    Directory of Open Access Journals (Sweden)

    Sanjay Kumar Bhasin, Arshad Bashir Khan, Sanjay Sharma

    2006-07-01

    Full Text Available Lumbar traingle hernia that occurs through lumbar triangles is very rare type of hernia. Only about 300 cases havebeen reported till date. Bilateral Petit’s triangle hernia find further rarity and the case under reference is probably thefirst ever reported case of Primary bilateral Petit’s triangle hernia. The present case is of a 46 years old married,multigravida female who presented with 1 year duration of LBA and subsequently notice of swelling both sides oflow back. FNAC revealed lipoma and on exploration it turned out to be rarest extra peritoneal bilateral Petit’s trianglehernia, fat as contents.

  5. Focal and multifocal diabetic neuropathies Neuropatia diabética focal e multifocal

    OpenAIRE

    Gérard Said

    2007-01-01

    Diabetic neuropathy is the most common neuropathy in industrialized countries, with a remarkable range of clinical manifestations. The vast majority of the patients with clinical diabetic neuropathy have a distal symmetrical form that progress following a fiber-length dependent pattern, with predominant sensory and autonomic manifestations. This pattern of neuropathy is associated with a progressive distal axonopathy. Patients are exposed to trophic changes in the feet, pains and autonomic di...

  6. Diabetic neuropathies: update on definitions, diagnostic criteria, estimation of severity, and treatments

    DEFF Research Database (Denmark)

    Tesfaye, Solomon; Boulton, Andrew J M; Dyck, Peter J;

    2010-01-01

    Preceding the joint meeting of the 19th annual Diabetic Neuropathy Study Group of the European Association for the Study of Diabetes (NEURODIAB) and the 8th International Symposium on Diabetic Neuropathy in Toronto, Canada, 13-18 October 2009, expert panels were convened to provide updates...... on classification, definitions, diagnostic criteria, and treatments of diabetic peripheral neuropathies (DPNs), autonomic neuropathy, painful DPNs, and structural alterations in DPNs....

  7. Plasma osteoprotegerin concentrations in peripheral sensory neuropathy in Type 1 and Type 2 diabetic patients

    DEFF Research Database (Denmark)

    Nybo, M; Poulsen, M K; Grauslund, J;

    2010-01-01

    Osteoprotegerin (OPG) has been linked to different diabetes complications, including cardiovascular disease, and new findings have indicated a specific role in diabetic peripheral neuropathy, but the exact mechanism is unknown. To investigate a possible association between OPG and diabetic...... peripheral sensory neuropathy, we therefore analysed plasma OPG in Type 1 and Type 2 diabetic patients with and without peripheral neuropathy....

  8. Phenotyping animal models of diabetic neuropathy: a consensus statement of the diabetic neuropathy study group of the EASD (Neurodiab).

    Science.gov (United States)

    Biessels, G J; Bril, V; Calcutt, N A; Cameron, N E; Cotter, M A; Dobrowsky, R; Feldman, E L; Fernyhough, P; Jakobsen, J; Malik, R A; Mizisin, A P; Oates, P J; Obrosova, I G; Pop-Busui, R; Russell, J W; Sima, A A; Stevens, M J; Schmidt, R E; Tesfaye, S; Veves, A; Vinik, A I; Wright, D E; Yagihashi, S; Yorek, M A; Ziegler, D; Zochodne, D W

    2014-06-01

    NIDDK, JDRF, and the Diabetic Neuropathy Study Group of EASD sponsored a meeting to explore the current status of animal models of diabetic peripheral neuropathy. The goal of the workshop was to develop a set of consensus criteria for the phenotyping of rodent models of diabetic neuropathy. The discussion was divided into five areas: (1) status of commonly used rodent models of diabetes, (2) nerve structure, (3) electrophysiological assessments of nerve function, (4) behavioral assessments of nerve function, and (5) the role of biomarkers in disease phenotyping. Participants discussed the current understanding of each area, gold standards (if applicable) for assessments of function, improvements of existing techniques, and utility of known and exploratory biomarkers. The research opportunities in each area were outlined, providing a possible roadmap for future studies. The meeting concluded with a discussion on the merits and limitations of a unified approach to phenotyping rodent models of diabetic neuropathy and a consensus formed on the definition of the minimum criteria required for establishing the presence of the disease. A neuropathy phenotype in rodents was defined as the presence of statistically different values between diabetic and control animals in 2 of 3 assessments (nocifensive behavior, nerve conduction velocities, or nerve structure). The participants propose that this framework would allow different research groups to compare and share data, with an emphasis on data targeted toward the therapeutic efficacy of drug interventions.

  9. THE EUROPEAN UNION’S BILATERAL APPROACH

    Directory of Open Access Journals (Sweden)

    Ludmila BORTA

    2014-12-01

    Full Text Available The EU is a world economic power and a major trading partner for most countries. All the time, this region has been interested and has acted towards a free and fair trade. The decrease and even the elimination of tariff and non-tariff barriers in the world trade are among the main objectives of the EU strategy for international trade. At the moment, the elusive outcome of the WTO Doha Round has led to the proliferation of bilateral trade agreements worldwide. Although the EU remains committed to further development of the multilateral trading system, however, the EU still has appealed also to the development of bilateral trade relations. The aim of this paper is to illustrate the current bilateral dimension of the common commercial policy of the EU. In conclusion, to describe this bilateral approach of the EU we are using one word, namely “diversity”.

  10. Bilateral areolar and periareolar pityriasis versicolor.

    Science.gov (United States)

    Sárdy, Miklós; Korting, Hans Christian; Ruzicka, Thomas; Wolff, Hans

    2010-08-01

    An adolescent boy presented with isolated, symmetrical, bilateral areolar and periareolar pityriasis versicolor. This extremely rare condition should be considered in the differential diagnosis of light brown patches on the areolae.

  11. FLOWING BILATERAL FILTER: DEFINITION AND IMPLEMENTATIONS

    Directory of Open Access Journals (Sweden)

    Maxime Moreaud

    2015-06-01

    Full Text Available The bilateral filter plays a key role in image processing applications due to its intuitive parameterization and its high quality filter result, smoothing homogeneous regions while preserving the edges of the objects. Considering the image as a topological relief, seeing pixel intensities as peaks and valleys, we introduce a way to control the tonal weighting coefficients, the flowing bilateral filter, reducing "halo" artifacts typically produced by the regular bilateral filter around a large peak surrounded by two valleys of lower values. In this paper we propose to investigate exact and approximated versions of CPU and parallel GPU (Graphical Processing Unit based implementations of the regular and flowing bilateral filter using the NVidia CUDA API. Fast implementations of these filters are important for the processing of large 3D volumes up to several GB acquired by x-ray or electron tomography.

  12. An unusual cause of bilateral diaphragmatic paralysis.

    OpenAIRE

    Pandit, A; Kalra, S.; Woodcock, A

    1992-01-01

    In a patient who had a sudden onset of bilateral diaphragmatic paralysis after forceful neck manipulation complete, though gradual, recovery in lung function and transdiaphragmatic pressures was seen over three years. This is a previously unrecognised risk of neck osteopathy.

  13. Is there a relationship between oral health and diabetic neuropathy?

    Science.gov (United States)

    Borgnakke, Wenche S; Anderson, Patricia F; Shannon, Carol; Jivanescu, Anca

    2015-11-01

    Diabetic neuropathy is the most common microvascular complication of diabetes mellitus with high morbidity and mortality, and low quality of life. It has a broad spectrum of clinical forms, although distal symmetrical polyneuropathy is the most prevalent. Several oral complications including burning mouth syndrome, dry mouth, and impairment of the senses taste and smell are less-known manifestations of diabetic neuropathy and often overlooked. Periodontitis, tooth loss, and temporomandibular joint dysfunction may be also present in these patients and are equally debilitating. Periodontitis was declared the sixth complication of diabetes in 1993 and may contribute to poor glucose control. Hence, periodontitis and diabetes mutually and adversely affect each other. This review summarizes the available body of scientific literature that discusses oral manifestations in patients with diabetic neuropathy and identifies important areas where more research is needed. PMID:26374570

  14. Glaucoma progression associated with Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Nucci, Carlo; Martucci, Alessio; Mancino, Raffaele; Cerulli, Luciano

    2013-02-01

    The purpose of this article is to describe a case of open-angle glaucoma progression associated with Leber's hereditary optic neuropathy. Single case analysis method is used. A 53-year-old woman with a previous diagnosis of glaucoma presented with progressive visual field loss. Complete ophthalmological examination and blood tests were negative for other concomitant diseases. Genetic counseling revealed mitochondrial DNA mutation compatible with the diagnosis of Leber's hereditary optic neuropathy. In conclusion, the case describes the concomitant occurrence of open-angle glaucoma and Leber's optic neuropathy. We hypothesize that the two diseases may have a cumulative effect on oxidative stress and retinal ganglion cell death with the consequent rapid progression of visual impairment. Screening for mitochondrial DNA mutations may be requested in patients with glaucoma who, despite pharmacologically controlled intraocular pressure, show rapid progression of the disease.

  15. Disease mechanisms in hereditary sensory and autonomic neuropathies.

    Science.gov (United States)

    Verpoorten, Nathalie; De Jonghe, Peter; Timmerman, Vincent

    2006-02-01

    Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected. In contrast, sensory abnormalities predominate or are exclusively present in hereditary sensory and autonomic neuropathies (HSAN). HSAN are clinically and genetically heterogeneous and are subdivided according to mode of inheritance, age of onset and clinical evolution. In recent years, 6 disease-causing genes have been identified for autosomal dominant and recessive HSAN. However, vesicular transport and axonal trafficking seem important common pathways leading to degeneration of sensory and autonomic neurons. This review discusses the HSAN-related genes and their biological role in the disease mechanisms leading to HSAN.

  16. Antiretroviral therapy-induced Leber’s hereditary optic neuropathy

    Directory of Open Access Journals (Sweden)

    Anand Moodley

    2014-05-01

    Full Text Available Optic neuropathy in HIV-infected patients results from the HIV infection itself, post-infectious auto-immune disease, opportunistic infections and drugs. Nucleoside reverse transcriptase inhibitors (NRTIs such as zidovudine and stavudine have known mitochondrial toxicity and can cause mitochondrial myopathies, neuropathies, hyperlactataemia, and can induce mitochondrial genetic disorders. Individuals with the mutation for Leber’s hereditary optic neuropathy (LHON, a mitochondrial disorder, are usually asymptomatic but develop visual loss when exposed to external triggers such as smoking. We report on two HIV-infected patients with LHON mutations (m.14484T>C and m.11778G>A who developed profound visual loss with antiretroviral therapy. We postulate that the phenotypic expression of LHON in these genetically predisposed individuals was triggered by NRTI drugs lamivudine and tenofovir when used in combination, despite their relatively weak mitochondrial toxic effects. 

  17. Extra-visual functional and structural connection abnormalities in Leber's hereditary optic neuropathy.

    Directory of Open Access Journals (Sweden)

    Maria A Rocca

    Full Text Available We assessed abnormalities within the principal brain resting state networks (RSNs in patients with Leber's hereditary optic neuropathy (LHON to define whether functional abnormalities in this disease are limited to the visual system or, conversely, tend to be more diffuse. We also defined the structural substrates of fMRI changes using a connectivity-based analysis of diffusion tensor (DT MRI data. Neuro-ophthalmologic assessment, DT MRI and RS fMRI data were acquired from 13 LHON patients and 13 healthy controls. RS fMRI data were analyzed using independent component analysis and SPM5. A DT MRI connectivity-based parcellation analysis was performed using the primary visual and auditory cortices, bilaterally, as seed regions. Compared to controls, LHON patients had a significant increase of RS fluctuations in the primary visual and auditory cortices, bilaterally. They also showed decreased RS fluctuations in the right lateral occipital cortex and right temporal occipital fusiform cortex. Abnormalities of RS fluctuations were correlated significantly with retinal damage and disease duration. The DT MRI connectivity-based parcellation identified a higher number of clusters in the right auditory cortex in LHON vs. controls. Differences of cluster-centroid profiles were found between the two groups for all the four seeds analyzed. For three of these areas, a correspondence was found between abnormalities of functional and structural connectivities. These results suggest that functional and structural abnormalities extend beyond the visual network in LHON patients. Such abnormalities also involve the auditory network, thus corroborating the notion of a cross-modal plasticity between these sensory modalities in patients with severe visual deficits.

  18. HIV-related neuropathy: current perspectives

    Directory of Open Access Journals (Sweden)

    Schütz SG

    2013-09-01

    Full Text Available Sonja G Schütz, Jessica Robinson-Papp Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA Abstract: Distal symmetric polyneuropathy (DSP related to human immunodeficiency virus (HIV is one of the most common neurologic complications of HIV, possibly affecting as many as 50% of all individuals infected with HIV. Two potentially neurotoxic mechanisms have been proposed to play a crucial role in the pathogenesis of HIV DSP: neurotoxicity resulting from the virus and its products; as well as adverse neurotoxic effects of medications used in the treatment of HIV. Clinically, HIV DSP is characterized by a combination of signs and symptoms that include decreased deep tendon reflexes at the ankles and decreased sensation in the distal extremities as well as paresthesias, dysesthesias, and pain in a symmetric stocking–glove distribution. These symptoms are generally static or slowly progressive over time, and depending on the severity, may interfere significantly with the patient's daily activities. In addition to the clinical picture, nerve conduction studies and skin biopsies are often pursued to support the diagnosis of HIV DSP. Anticonvulsants, antidepressants, topical agents, and nonspecific analgesics may help relieve neuropathic pain. Specifically, gabapentin, lamotrigine, pregabalin, amitriptyline, duloxetine, and high-dose topical capsaicin patches have been used in research and clinical practice. Further research is needed to elucidate the pathogenesis of HIV DSP, thus facilitating the development of novel treatment strategies. This review discusses the epidemiology, pathophysiology, clinical findings, diagnosis, and management of DSP in the setting of HIV. Keywords: neuropathy, human immunodeficiency virus, acquired immunodeficiency syndrome, AIDS, distal symmetric polyneuropathy, DSP, pain

  19. Sequential presentation of bilateral Brown syndrome.

    Science.gov (United States)

    Sekeroğlu, Hande Taylan; Türkçüoğlu, Peykan; Sanaç, Ali Şefik; Sener, Emin Cumhur

    2012-04-01

    Brown syndrome, characterized by a limitation of elevation in adduction and positive forced duction testing, is usually unilateral but occurs bilaterally in 10% of all cases. It may present as a congenital condition in one eye and develop in the other eye with no apparent cause. We present a case of bilateral Brown syndrome in which the right eye became involved within 1 year of surgery on the left eye for congenital Brown syndrome.

  20. Bilateral synchronous plasmacytoma of the testis.

    Science.gov (United States)

    Narayanan, Geetha; Joseph, Rona; Soman, Lali V

    2016-04-01

    Extramedullary plasmacytoma (EMP) is usually seen in the head and neck regions and in the upper respiratory, gastrointestinal, and central nervous systems. Testis is a rare site for EMP, and bilateral synchronous testicular plasmacytoma occurring as an isolated event at initial presentation has been reported only once previously. We present herein the second such report in a 70-year-old man who underwent bilateral orchidectomy. PMID:27034568

  1. Bilateral anophthalmia with septo-optic dysplasia

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2010-01-01

    Full Text Available Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral anophthalmia and septo-optic dysplasia.

  2. Role of A3 adenosine receptor in diabetic neuropathy.

    Science.gov (United States)

    Yan, Heng; Zhang, Enshui; Feng, Chang; Zhao, Xin

    2016-10-01

    Neuropathy is the most common diabetic complication. Although the A1 and A2A adenosine receptors are important pharmacological targets in alleviating diabetic neuropathy, the role of the A3 adenosine receptor remains unknown. Because the A3 adenosine receptor regulates pain induced by chronic constriction injury or chemotherapy, its stimulation might also attenuate diabetic neuropathy. This study examines the effects of systemic treatment with the A3 adenosine receptor agonist 1-deoxy-1-[6-[[(3-iodophenyl)methyl]amino]-9H-purin-9-yl]-N-methyl-β-d-ribofuranuronamide (IB-MECA) on diabetic neuropathy and explores the putative mechanisms underlying its pharmacological effects. We show that IB-MECA alleviated mechanical hyperalgesia and thermal hypoalgesia in mice 2 weeks but not 4 weeks after streptozocin (STZ) treatment. Furthermore, IB-MECA prevented the reduction in sciatic motor nerve conduction velocity and sensory nerve conduction velocity in diabetic mice 2 weeks but not 4 weeks after STZ treatment. Similarly, IB-MECA inhibited the activation of nuclear factor-κB and decreased the generation of tumor necrosis factor-α in the spinal cord of mice 2 weeks but not 4 weeks after STZ treatment. These phenomena were associated with reduction of A3 adenosine receptor expression in the spinal cord after long-term diabetes. Our results suggest that the A3 adenosine receptor plays a critical role in regulating diabetic neuropathy and that reduction in A3 adenosine receptor expression/function might contribute to the progression of diabetic neuropathy. © 2016 Wiley Periodicals, Inc.

  3. MODERN VIEWS ON BILATERAL BREAST CANCER

    Directory of Open Access Journals (Sweden)

    Ye. A. Fesik

    2014-01-01

    Full Text Available Presented modern literature data on the features of the pathogenesis, course, clinical and morphological expression and tumor characteristics, parameters and nodal metastasis of hematogenous bilateral breast cancer. Highlight the results of domestic and foreign studies in recent years to determine the prognostic factors and recurrence of synchronous and metachronous bilateral breast cancer. It was revealed that the frequency of bilateral breast tumor lesions varies widely, ranging from 0.1 to 20%, with metachronous tumors recorded significantly higher (69.6% than the synchronous (22.7%. The probability of occurrence of metachronous breast cancer is higher in women with a family history, as well as if they have a gene mutation BRCA-1. Found that the most common histological type of breast tumor with bilateral lesions is invasive ductal. However, the incidence of invasive lobular cancer and non-invasive lobular cancer is slightly higher among synchronous bilateral cancer compared with unilateral disease. Studies have shown that in a double-sided synchronous breast cancer tumor, as a rule, has a lower degree of differentiation, and the higher the expression level of estrogen receptors and progesterone receptors. Relevance of the issue because the identification of patterns in the study of lymphatic and hematogenous features bilateral metastasis of mammary tumors provides a basis for speculation about the differences in the progression of neoplastic disease in these groups and is a cause for further detailed research in this area to identify and evaluate the prognosis and also the choice of tactics of such patients.

  4. Bilateral Keratectasia 34 Years after Corneal Transplant

    Directory of Open Access Journals (Sweden)

    Xavier Valldeperas

    2010-07-01

    Full Text Available We report the clinical findings of a patient with severe bilateral keratectasia 34 years after a penetrating keratoplasty (PK in both eyes. An otherwise healthy 67-year-old man complained of deterioration of the eyesight in both eyes over the last 6 months. The patient was diagnosed with bilateral keratoconus at the age of 32 years, and he underwent a bilateral PK. At presentation, visual acuity was 20/200 in the right eye and light perception in the left eye. A Pentacam pachymetric map revealed a central pachymetry of 720 µm in the right eye and of 710 µm in the left eye, as well as an average paracentral pachymetry of 436 and 270 µm in the 9-mm zone in the right and the left eye, respectively. Corneal topography revealed bilateral irregular and asymmetric bowing with generalized steepening and high corneal power. We describe a case of bilateral keratectasia 34 years after PK in a patient who was originally diagnosed with bilateral keratoconus.

  5. Optic neuropathy in children with Lyme disease.

    Science.gov (United States)

    Rothermel, H; Hedges, T R; Steere, A C

    2001-08-01

    Involvement of the optic nerve, either because of inflammation or increased intracranial pressure, is a rare manifestation of Lyme disease. Of the 4 children reported here with optic nerve abnormalities, 2 had decreased vision months after disease onset attributable to optic neuritis, and 1 had headache and diplopia early in the infection because of increased intracranial pressure associated with Lyme meningitis. In these 3 children, optic nerve involvement responded well to intravenous ceftriaxone therapy. The fourth child had headache and visual loss attributable to increased intracranial pressure and perhaps also to optic neuritis. Despite treatment with ceftriaxone and steroids, he had persistent increased intracranial pressure leading to permanent bilateral blindness. Clinicians should be aware that neuro-ophthalmologic involvement of Lyme disease may have significant consequences. If increased intracranial pressure persists despite antibiotic therapy, measures must be taken quickly to reduce the pressure.

  6. Nonarteritic ischemic optic neuropathy developed after capsular block syndrome

    Directory of Open Access Journals (Sweden)

    Volkan Hurmeric

    2014-01-01

    Full Text Available A 65-year-old man developed capsular block syndrome in the early postoperative period, following phacoemulsification surgery. After neodymium-doped yttrium aluminum garnet (Nd:YAG laser anterior capsulotomy, the intraocular pressure remained elevated for 4 days despite antiglaucomatous medication. On the postoperative fifth day, nonarteritic ischemic optic neuropathy was diagnosed. To the best of our knowledge, this is the first report of a case with nonarteritic ischemic optic neuropathy associated with early postoperative capsular block syndrome after phacoemulsification surgery.

  7. BILATERAL PRESENTATION OF TENSOR FASCIA SURALIS MUSCLE IN A MALE CADAVER: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Kusum Rajendra Gandhi

    2015-12-01

    Full Text Available Tensor fascia suralis muscle is an anomalous muscle located in popliteal fossa. The muscle may arise from any of the hamstring muscles and is inserted into the crural fascia or tendoclacaneus. We found tensor fascia suralis muscle in a male cadaver taking origin from medial side of tendon of biceps femoris muscle. The tendinous origin was then transformed into a well defined fusiform belly in the roof of popliteal fossa. After traversing downwards and medially the muscle again became tendinous to get inserted into deep fascia of leg. Bilateral presentation of the anomalous muscle is not yet documented in literature. The anatomical relation of the muscle explains its great clinical importance. The tendinous origin was anteriorly related to sciatic nerve and the muscle belly to the tibial nerve. Sural nerve and short saphenous vein were in lateral relation to the muscle. Contraction of muscle in the roof of popliteal fossa may lead to sciatic, tibial or sural nerve neuropathy. The muscle can confuse the physician of a soft tissue mass or an aberrant vessel. Hence, the bilateral presence of tensor fascia suralis muscle is documented for further references. Clinical Significance: The precise knowledge of anatomy of popliteal region is mandatory for the surgeons to perform safe and uncomplicated surgery in and around popliteal fossa and also for radiologist for correct radiographic interpretations.

  8. Leber Hereditary Optic Neuropathy: Do Folate Pathway Gene Alterations Influence the Expression of Mitochondrial DNA Mutation?

    Directory of Open Access Journals (Sweden)

    A Aleyasin

    2010-09-01

    Full Text Available "nBackground: Leber hereditary optic neuropathy (LHON is an inherited form of bilateral optic atrophy leading to the loss of central vision.  The primary cause of vision loss is mutation in the mitochondrial DNA (mtDNA, however, unknown secon­dary genetic and/or epigenetic risk factors are suggested to influence its neuropathology.  In this study folate gene polymor­phisms were examined as a possible LHON secondary genetic risk factor in Iranian patients."nMethods: Common polymorphisms in the MTHFR (C677T and A1298C and MTRR (A66G genes were tested in 21 LHON patients and 150 normal controls."nResults:  Strong associations were observed between the LHON syndrome and C677T (P= 0.00 and A66G (P= 0.00 polymor­phisms.  However, no significant association was found between A1298C (P =0.69 and the LHON syndrome."nConclusion: This is the first study that shows MTHFR C677T and MTRR A66G polymorphisms play a role in the etiology of the LHON syndrome.  This finding may help in the better understanding of mechanisms involved in neural degeneration and vision loss by LHON and hence the better treatment of patients.

  9. Perioperative optic neuropathy in patients undergoing off-pump coronary artery bypass graft surgery

    Directory of Open Access Journals (Sweden)

    Rajani Battu

    2014-01-01

    Full Text Available Aims and Objectives: Perioperative optic neuropathy (PON is a rare, but devastating complication following coronary artery bypass graft surgery (CABG. We performed a retrospective study of PON associated with off-pump CABG (OPCABG to identify possible risk factors. Materials and Methods: 1442 patients underwent OPCABG over a 10-month period from October 2008 to August 2009; PON was identified in four (0.28% patients. A retrospective review of the charts was done to identify the patient characteristics, pre-operative status, intra-operative details, and ophthalmic examination details. Friedman test was used to compare the hematocrit (Hct and the mean arterial pressure (MAP values across the three time periods: Pre-, intra- and post-operative periods. Results: All four patients were male, diabetic, and in the age range 51-69 years. All patients noted unilateral or bilateral severe visual loss in the immediate post-operative period, which was permanent. All the four patients had statistically significant decrease in the Hct (P < 0.039 and mean arterial blood pressure (P < 0.018 in the intraoperative and post-operative period when compared to pre-operative value. Conclusions : PON is a rare but definite possibility in patients undergoing OPCABG. Diabetes mellitus may be a risk factor. Perioperative hemodynamic abnormalities like decrease in MAP and anemia may play a role in the development of PON in OPCABG.

  10. Immunohistochemical analysis of laryngeal muscles in normal horses and horses with subclinical recurrent laryngeal neuropathy.

    Science.gov (United States)

    Rhee, Hannah S; Steel, Catherine M; Derksen, Frederik J; Robinson, N Edward; Hoh, Joseph F Y

    2009-08-01

    We used immunohistochemistry to examine myosin heavy-chain (MyHC)-based fiber-type profiles of the right and left cricoarytenoideus dorsalis (CAD) and arytenoideus transversus (TrA) muscles of six horses without laryngoscopic evidence of recurrent laryngeal neuropathy (RLN). Results showed that CAD and TrA muscles have the same slow, 2a, and 2x fibers as equine limb muscles, but not the faster contracting fibers expressing extraocular and 2B MyHCs found in laryngeal muscles of small mammals. Muscles from three horses showed fiber-type grouping bilaterally in the TrA muscles, but only in the left CAD. Fiber-type grouping suggests that denervation and reinnervation of fibers had occurred, and that these horses had subclinical RLN. There was a virtual elimination of 2x fibers in these muscles, accompanied by a significant increase in the percentage of 2a and slow fibers, and hypertrophy of these fiber types. The results suggest that multiple pathophysiological mechanisms are at work in early RLN, including selective denervation and reinnervation of 2x muscle fibers, corruption of neural impulse traffic that regulates 2x and slow muscle fiber types, and compensatory hypertrophy of remaining fibers. We conclude that horses afflicted with mild RLN are able to remain subclinical by compensatory hypertrophy of surviving muscle fibers.

  11. Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside

    Directory of Open Access Journals (Sweden)

    Rajeshwari D. Koilkonda

    2011-01-01

    Full Text Available Leber's hereditary optic neuropathy (LHON is a maternally transmitted disorder caused by point mutations in mitochondrial DNA (mtDNA. Most cases are due to mutations in genes encoding subunits of the NADH-ubiquinone oxidoreductase that is Complex I of the electron transport chain (ETC. These mutations are located at nucleotide positions 3460, 11778, or 14484 in the mitochondrial genome. The disease is characterized by apoplectic, bilateral, and severe visual loss. While the mutated mtDNA impairs generation of ATP by all mitochondria, there is only a selective loss of retinal ganglion cells and degeneration of optic nerve axons. Thus, blindness is typically permanent. Half of the men and 10% of females who harbor the pathogenic mtDNA mutation actually develop the phenotype. This incomplete penetrance and gender bias is not fully understood. Additional mitochondrial and/or nuclear genetic factors may modulate the phenotypic expression of LHON. In a population-based study, the mtDNA background of haplogroup J was associated with an inverse relationship of low-ATP generation and increased production of reactive oxygen species (ROS. Effective therapy for LHON has been elusive. In this paper, we describe the findings of pertinent published studies and discuss the controversies of potential strategies to ameliorate the disease.

  12. 外展支具配合学步车治疗发育性髋关节脱位的疗效评价%Effect of abducens orthosis combined with walker on developmental dysplasia of the hip

    Institute of Scientific and Technical Information of China (English)

    胡志勇; 徐勇强; 梁捷予; 李康华; 廖前德

    2009-01-01

    Objective To evaluate the effect of abducens orthosis combined with walker on de-velopmental dysplasia of the hip ( DDH ). Methods A total of 126 patients (224 hips ) with DDH aged 6~36 months in Xiangya Hospital was randomly divided into 2 groups: an orthosis combined with walker group and an improved hip frog cast fixation group. Seventy patients (130 hips) were treated by the orthosis combined with walker and 56 patients (94 hips) were treated by the improved hip frog cast fixation. We compared the effect and complications of the 2 groups. Results The fine-ness rates of the orthosis combined with walker group and the improved hip frog cast fixation group were 89.2% and 90.4% , respectively, with no significant difference (P>0.05). The rate of femoral head osteonecrosis in the orthosis combined with walker group was significantly lower than that in the improved hip frog cast fixation group (1.5 % vs. 5.3 % , P0.05).支具加学步车组股骨头坏死的比例显著低于改良蛙式石膏组(分别为1.5%和5.3%,P<0.05),但前者术后发生再脱位的比例显著高于后者(分别为6.9%和1.1%,P<0.05).结论:两种方法均能有效治疗DDH,外展支具配合学步车治疗后出现股骨头坏死比例较低,但再脱位比例较高.

  13. Bilateral agenesis of the anterior cruciate ligament: MRI evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Bedoya, Maria A.; Jaramillo, Diego [The Children' s Hospital of Philadelphia, Radiology Department, Philadelphia, PA (United States); McGraw, Michael H. [Hospitalof theUniversityof Pennsylvania, Divisionof Orthopaedics, Philadelphia, PA (United States); Wells, Lawrence [The Children' s Hospital of Philadelphia, Division of Orthopaedics, Philadelphia, PA (United States)

    2014-09-15

    Bilateral agenesis of the anterior cruciate ligament (ACL) is extremely rare. We describe a 13-year-old girl who presented with bilateral knee pain without history of trauma; she has two family members with knee instability. Magnetic resonance imaging showed bilateral absence of the ACL, and medial posterior horn meniscal tears. Bilateral arthroscopic partial meniscectomy and anterior cruciate ligament reconstruction was performed. (orig.)

  14. Bilateral ovarian cystic teratomata mimicking bilateral pure ovarian hemangiomata: case report.

    Science.gov (United States)

    Feuerstein, I M; Aronson, B L; McCarthy, E F

    1984-01-01

    This report describes a case of bilateral, benign cystic ovarian teratomata which were composed predominantly of cavernous hemangiomatous elements. The right-sided lesion, in particular, mimicked a pure ovarian hemangioma. The clinical presentation, bilaterality of the lesions, the sizes of the hemangiomata, and the subsequent hemangioma of the leg are all of interest in this very rare lesion. PMID:6511164

  15. Spinal MRI of vincristine neuropathy mimicking Guillain-Barre syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Chang, Yun Woo; Yoon, Hye-Kyung; Cho, Jae Min [Department of Radiology, Samsung Medical Centre, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Kangnam-gu, Seoul 135-710 (Korea); Sung, Ki Woong [Department of Paediatrics, Samsung Medical Centre, Seoul 135-710 (Korea)

    2003-11-01

    A 4.3-year-old girl with acute leukaemia, who was being treated with chemotherapy (including vincristine), developed paraplegia. Spinal MRI showed diffusely enhancing nerve roots on contrast-enhanced images. Spinal fluid analysis showed a normal protein level. Vincristine neuropathy mimicking Guillain-Barre syndrome is thought to be the cause of the MRI abnormalities. (orig.)

  16. Neurolysis and myocutaneous flap for radiation induced brachial plexus neuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Hirachi, Kazuhiko; Minami, Akio; Kato, Hiroyuki; Nishio, Yasuhiko [Hokkaido Univ., Sapporo (Japan). School of Medicine; Ohnishi, Nobuki

    1998-11-01

    Surgical treatment for radiation induced brachial plexus neuropathy is difficult. We followed 9 patients of radiation induced brachial plexus neuropathy who were surgically treated with neurolysis and myocutaneous flap coverage. Their ages ranged from 29 to 72 years old. Their diagnoses were breast cancer in 6 patients, lingual cancer in 1, thyroid cancer in 1 and malignant lymphoma in 1. Total dose of radiation ranged from 44 to 240 Gy. Interval from radiation therapy to our surgery ranged from 1 to 18 years (mean 6.7 years). Chief complaints were dysesthesia in 9 patients, motor weakness in 7 patients and dullach in scar formation of radiated skin in 7 patients. Preoperative neural functions were slight palsy in 1, moderate palsy in 5 and complete palsy in 3. In surgical treatment, neurolysis of the brachial plexus was done and it was covered by latissimus dorsi myocutaneous flap. We evaluated about dysesthesia and motor recovery after treatment for neuropathy. Follow up periods ranged from 1 to 11 years (average in 5 years). Dysesthesia improved in 6 patients and got worse in 3 patients. Motor weakness recovered in only 2 patients and got worse in 7 patients. From our results, intolerable dysesthesia which was first complaint of these patients improved. But motor function had not recovered. Our treatment was thought to be effective for extraneural factor like an compression neuropathy by scar formation and poor vascularity. But it was not effective for intraneural damage by radiation therapy. (author)

  17. Reappraising entrapment neuropathies--mechanisms, diagnosis and management.

    Science.gov (United States)

    Schmid, Annina B; Nee, Robert J; Coppieters, Michel W

    2013-12-01

    The diagnosis of entrapment neuropathies can be difficult because symptoms and signs often do not follow textbook descriptions and vary significantly between patients with the same diagnosis. Signs and symptoms which spread outside of the innervation territory of the affected nerve or nerve root are common. This Masterclass provides insight into relevant mechanisms that may account for this extraterritorial spread in patients with entrapment neuropathies, with an emphasis on neuroinflammation at the level of the dorsal root ganglia and spinal cord, as well as changes in subcortical and cortical regions. Furthermore, we describe how clinical tests and technical investigations may identify these mechanisms if interpreted in the context of gain or loss of function. The management of neuropathies also remains challenging. Common treatment strategies such as joint mobilisation, neurodynamic exercises, education, and medications are discussed in terms of their potential to influence certain mechanisms at the site of nerve injury or in the central nervous system. The mechanism-oriented approach for this Masterclass seems warranted given the limitations in the current evidence for the diagnosis and management of entrapment neuropathies. PMID:24008054

  18. PERIPHERAL NEUROPATHY ELECTROPHYSIOLOGICAL SCREENING IN CHILDREN WITH CELIAC DISEASE

    Directory of Open Access Journals (Sweden)

    Şedat IŞIKAY

    2015-06-01

    Full Text Available Background The involvement of the peripheral nervous system in children with celiac disease is particularly rare. Objective The aim of this study was to assess the need for neurophysiological testing in celiac disease patients without neurological symptoms in order to detect early subclinical neuropathy and its possible correlations with clinical and demographic characteristics. Methods Two hundred and twenty consecutive children with celiac disease were screened for neurological symptoms and signs, and those without symptoms or signs were included. Also, patients with comorbidities associated with peripheral neuropathy or a history of neurological disease were excluded. The remaining 167 asymptomatic patients as well as 100 control cases were tested electro-physiologically for peripheral nervous system diseases. Motor nerve conduction studies, including F-waves, were performed for the median, ulnar, peroneal, and tibial nerves, and sensory nerve conduction studies were performed for the median, ulnar, and sural nerves with H reflex of the soleus muscle unilaterally. All studies were carried out using surface recording electrodes. Normative values established in our laboratory were used. Results Evidence for subclinical neuropathy was not determined with electrophysiological studies in any of the participants. Conclusion In this highly selective celiac disease group without any signs, symptoms as well as the predisposing factors for polyneuropathy, we did not determine any cases with neuropathy. With these results we can conclude that in asymptomatic cases with celiac disease electrophysiological studies are not necessary. However, larger studies with the electrophysiological studies performed at different stages of disease at follow-ups are warranted.

  19. Peripheral Neuropathy in Military Aircraft Maintenance Workers in Australia

    NARCIS (Netherlands)

    Guest, Maya; Attia, John R.; D'Este, Catherine A.; Boggess, May M.; Brown, Anthony M.; Gibson, Richard E.; Tavener, Meredith A.; Ross, James; Gardner, Ian; Harrex, Warren

    2011-01-01

    Objective: This study aimed to examine possible persisting peripheral neuropathy in a group who undertook fuel tank repairs on F-111 aircraft, relative to two contemporaneous comparison groups. Methods: Vibration perception threshold (VPT) was tested using biothesiometry in 614 exposed personnel, co

  20. Effects of vibrating insoles on standing balance in diabetic neuropathy

    NARCIS (Netherlands)

    Hijmans, Juha M.; Geertzen, Jan H. B.; Zijlstra, Wiebren; Hof, At L.; Postema, Klaas

    2008-01-01

    This study investigated the effects on standing balance of random vibrations applied to the plantar side of the feet by vibrating insoles in subjects with neuropathy and nondisabled subjects. In four different conditions (eyes open or closed and with or without an attention-demanding task [ATD]), su

  1. [An Undeniable Case of Optic Neuropathy Due to Cabazitaxel].

    Science.gov (United States)

    Noguchi, Yusuke; Kawashima, Yugo; Kawara, Hiroko; Kaneko, Masatomo; Nakauchi, Hiroo; Tokuyama, Yoko

    2016-06-01

    Cabazitaxelis a taxane-type antineoplastic agent used for treating prostate cancer. Although typical side effects include neutropenia and fatigue, no studies have investigated eye disorders as a possible side effect, and the details are not clear. Herein, we report our experience of an undeniable case of optic neuropathy caused by cabazitaxel. A 78-year-old man had been diagnosed with prostate cancer (cT3aN1M1b, stage IV) 3 years previously, with a treatment history of bicalutamide, leuprorelin, flutamide, docetaxel, abiraterone, and enzalutamide. Because of a decline in vision during the second and third administration cycles of cabazitaxel, the patient visited an ophthalmologist. He was found to have reduced visual acuity, reduced central critical flicker frequency, narrowed field of vision, and impaired color vision, and was diagnosed with optic neuropathy. Although cabazitaxel administration was continued through 6 cycles, the symptoms were unchanged, and no drastic exacerbation was seen. This patient undeniably developed optic neuropathy due to cabazitaxel. Optic neuropathy due to taxane-type antineoplastic agents has also been reported with paclitaxel or docetaxel, and all precautions should be taken when administering such drugs. Detailed studies that include data from a larger number of facilities should be conducted in the future. PMID:27306820

  2. Sight-threatening optic neuropathy is associated with paranasal lymphoma

    Directory of Open Access Journals (Sweden)

    Takahiko Hayashi

    2010-03-01

    Full Text Available Takahiko Hayashi1, Ken Watanabe2, Yukio Tsuura3, Gengo Tsuji4, Shingo Koyama4, Jun Yoshigi4, Naoko Hirata1, Shin Yamane1, Yasuhito Iizima5, Shigeo Toyota6, Satoshi Takeuchi11Department of Ophthalmology, Yokosuka Kyosai Hospital, Japan; 2Department of Hematology, Graduate School of Medicine, Tokyo Medical and Dental University, Japan; 3Department of Pathology, Yokosuka Kyosai Hospital, Japan; 4Department of Radiology, Yokosuka Kyosai Hospital, Japan; 5Department of Ophthalmology, Yokohama City University, Japan; 6Department of Internal Medicine, Yokosuka Kyosai Hospital, JapanAbstract: Malignant lymphoma around the orbit is very rare. We present a rare case of optic neuropathy caused by lymphoma. A 61-year-old Japanese woman was referred to our hospital for evaluation of idiopathic optic neuropathy affecting her right eye. The patient was treated with steroid pulse therapy (methyl-predonisolone 1 g daily for 3 days with a presumed diagnosis of idiopathic optic neuritis. After she had been switched to oral steroid therapy, endoscopic sinus surgery had been performed, which revealed diffuse large B cell lymphoma of the ethmoidal sinus. Although R-CHOP therapy was immediately started, prolonged optic nerve compression resulted in irreversible blindness. Accordingly, patients with suspected idiopathic optic neuritis should be carefully assessed when they show a poor response, and imaging of the orbits and brain should always be done for initial diagnosis because they may have compression by a tumor.Keywords: optic neuropathy, malignant lymphoma, paranasal lymphoma, rhinogenic optic neuropathy

  3. Mixed connective tissue disease presenting as trigeminal neuropathy

    OpenAIRE

    Edmondstone, W M; Price, D. K.; Shepherd, T. H.; Gooddy, W. W.

    1982-01-01

    A 25-year-old man presented with an isolated trigeminal neuropathy 13 months before developing myalgia and lymphadenopathy. The onset of Raynaud's phenomenon 2 months later suggested a diagnosis of mixed connective tissue disease (MCTD) and this was confirmed by high serum titres of speckled pattern antinuclear antibody, and antibody to ribonuclear protein.

  4. On the many faces of Leber hereditary optic neuropathy

    NARCIS (Netherlands)

    Oostra, RJ; Tijmes, NT; Cobben, JM; Bolhuis, PA; vanNesselrooij, BPM; Houtman, WA; deKokNazaruk, MM; BleekerWagemakers, EM

    1997-01-01

    Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between t

  5. Gene-environment interactions in Leber hereditary optic neuropathy

    NARCIS (Netherlands)

    M.A. Kirkman; P. Yu-Wai-Man (Patrick); A. Korsten (Alex); M. Leonhardt (Miriam); K. Dimitriadis (Konstantin); I.F.M. de Coo (René); T. Klopstock (Thomas); P.F. Chinnery

    2009-01-01

    textabstractLeber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of mitochondrial DNA (mtDNA). Environmental factors are thought to precipitate the visual failure and explain the marked incomplete penetrance of LHON, but previous small studies have failed to conf

  6. Visual Rehabilitation of Persons with Leber's Hereditary Optic Neuropathy.

    Science.gov (United States)

    Rudanko, S.-L.

    1995-01-01

    This article presents results of a noncontrolled clinical study of 20 persons with Leber's hereditary optic neuropathy who were treated from 1976 to 1990 at the Low Vision Centre of the Finnish Federation of the Visually Handicapped. The importance of early functional visual rehabilitation is emphasized, as is the use of low vision aids to help…

  7. Oxidative stress and diabetic neuropathy : pathophysiotogical mechanisms and treatment perspectives

    NARCIS (Netherlands)

    2002-01-01

    Increased oxidative stress is a mechanism that probably plays a major role in the development of diabetic complications, including peripheral neuropathy. This review summarises recent data from in vitro and in vivo studies that have been performed both to understand this aspect of the pathophysiolog

  8. Recent advances in exploring the genetic susceptibility to diabetic neuropathy.

    Science.gov (United States)

    Politi, Cristina; Ciccacci, Cinzia; D'Amato, Cinzia; Novelli, Giuseppe; Borgiani, Paola; Spallone, Vincenza

    2016-10-01

    Diabetic polyneuropathy and cardiovascular autonomic neuropathy are common and disabling complications of diabetes. Although glycaemic control and cardiovascular risk factors are major contributory elements in its development, diabetic neuropathy recognizes a multifactorial influence and a multiplicity of pathogenetic mechanisms. Thus genetic and environmental factors may contribute to its susceptibility, each with a modest contribution, by targeting various metabolic and microvascular pathways whose alterations intervene in diabetic neuropathy pathogenesis. This review is aimed at describing major data from the available literature regarding genetic susceptibility to diabetic neuropathies. It provides an overview of the genes reported as associated with the development or progression of these complications, i.e. ACE, MTHFR, GST, GLO1, APOE, TCF7L2, VEGF, IL-4, GPX1, eNOS, ADRA2B, GFRA2, MIR146A, MIR128A. The identification of genetic susceptibility can help in both expanding the comprehension of the pathogenetic mechanisms of diabetic nerve damage and identifying biomarkers of risk prediction and response to therapeutic intervention.

  9. Mexiletine for treatment of chronic painful diabetic neuropathy

    DEFF Research Database (Denmark)

    Dejgard, A; Kastrup, J; Petersen, P

    1988-01-01

    Sixteen of nineteen patients completed a randomised double-blind crossover trial to assess the effect of oral mexiletine (10 mg/kg bodyweight daily) on the symptoms and signs of chronic painful diabetic neuropathy. The median age of the sixteen patients was 50 years (range 30-64). Assessment...

  10. Protective effect of Jiaweibugan decoction against diabetic peripheral neuropathy

    Institute of Scientific and Technical Information of China (English)

    Yu Wang; Zeqi Chen; Renqun Ye; Yulei He; Yuhong Li; Xinjian Qiu

    2013-01-01

    Oxygen free radical damage is regarded as a direct or indirect common pathway associated with diabetic neuropathy and is the main cause of complications in peripheral neuropathies. We speculate that Jiaweibugan decoction has a significant effect in treating diabetic peripheral neuropathy through an anti-oxidative stress pathway. In this study, a diabetic rat model was established by intraperitoneal injection of streptozotocin. Rats were treated with Jiaweibugan decoction via intragastric administration. The levels of malondialdehyde and glutathione, which are indirect indexes of oxidative stress, in serum were determined using a colorimetric method. The expression levels of nuclear factor kappa B p65 mRNA and p38 mitogen-activated protein kinase, which are oxidative stress associated factors, in the dorsal root ganglion of spinal S4–6 segments were evaluated by reverse-transcriptase polymerase chain reaction and immunohistochemistry. Results showed that, Jiaweibugan decoction significantly ameliorated motor nerve conduction velocity in diabetic rats, effectively decreased malondialdehyde levels in serum and the expression of nuclear factor kappa B p65 mRNA and p38 mitogen-activated protein kinase mRNA in the dorsal root ganglion, and increased glutathione levels in serum. Therefore, our experimental findings indicate that Jiaweibugan decoction plays an anti-oxidative stress role in the diabetic peripheral neuropathy process, which has a protective effect on peripheral nerve injury.

  11. Small Heat Shock Proteins and Distal Hereditary Neuropathies.

    Science.gov (United States)

    Nefedova, V V; Muranova, L K; Sudnitsyna, M V; Ryzhavskaya, A S; Gusev, N B

    2015-12-01

    Classification of small heat shock proteins (sHsp) is presented and processes regulated by sHsp are described. Symptoms of hereditary distal neuropathy are described and the genes whose mutations are associated with development of this congenital disease are listed. The literature data and our own results concerning physicochemical properties of HspB1 mutants associated with Charcot-Marie-Tooth disease are analyzed. Mutations of HspB1, associated with hereditary motor neuron disease, can be accompanied by change of the size of HspB1 oligomers, by decreased stability under unfavorable conditions, by changes in the interaction with protein partners, and as a rule by decrease of chaperone-like activity. The largest part of these mutations is accompanied by change of oligomer stability (that can be either increased or decreased) or by change of intermonomer interaction inside an oligomer. Data on point mutation of HspB3 associated with axonal neuropathy are presented. Data concerning point mutations of Lys141 of HspB8 and those associated with hereditary neuropathy and different forms of Charcot-Marie-Tooth disease are analyzed. It is supposed that point mutations of sHsp associated with distal neuropathies lead either to loss of function (for instance, decrease of chaperone-like activity) or to gain of harmful functions (for instance, increase of interaction with certain protein partners).

  12. [Diagnosis of the peripheral hereditary neuropathies and its molecular genetics].

    Science.gov (United States)

    Hernández-Zamora, Edgar; Arenas-Sordo, María de la Luz

    2008-01-01

    Peripheral neuropathies include a wide range of pathological disorders characterized by damage of peripheral nerves. Among them, peripheral hereditary neuropathies are a group of frequent illnesses and early evolution. They have been named hereditary motor and sensory neuropathy (HMSN) or peripheral hereditary neuropathies type Charcot-Marie-Tooth (CMT). The most frequent types are CMT1, CMT2 and CMTX. Approximately 70% of the cases correspond to subtype CMT1A, associated with tandem duplication of a 1.5 Mb DNA fragment on chromosome 17p11.2-p12 that codifies the peripheral myelin protein PMP22. So far, there five different types of CMT (1,2,3,4,X) with approximately 32 subtypes, associated with more than 30 genes. Have been reported genetic heterogeneity and expression variability of the illness makes it necessary to carry on diagnostic strategies that integrate clinical study for determining genetic clinical history, family history, complete physical exploration, muscular strength, physical deformities, reflexes and sensitivity, and molecular studies allow detection of different types of mutations and help establish a correct diagnosis and an adequate genetic counseling.

  13. Burden of Chemotherapy-Induced Neuropathy in School ged children

    Directory of Open Access Journals (Sweden)

    Artan Shkoza

    2015-11-01

    Full Text Available Chemotherapy-induced peripheral neuropathy (CIPN is the most common neurological complication in cancer treatment and probably the most common toxic neuropathy in our environment. The aim of the study was to assess the incidence and discomfort caused by neuropathic symptoms in children treated for hematologic cancers. The study included all children admitted to the pediatric oncology service at the University Hospital Center “Mother Teresa”, Tirana, by the year 2011 – 2013 divided in three diagnosis groups: acute lymphoblastic leukemia, Hodgkin and non-Hodgkin’s lymphoma, or other solid tumors. In a prospective cohort setting, data were collected by standard questionnaire for symptoms and signs of neurological damage, according to The Pediatric - Modified Total Neuropathy Scale (Ped - mTNS, as well as clinical evaluation of pin sensibility, vibration sensibility, muscle strength and deep tendon reflexes (DTR. The results obtained from Ped-mTNS, showed the high incidence of sensory and motor symptoms as well as functional deficits in balance and manual dexterity in children treated with anticancer drugs. Ped-mTNS scores, as the first measure designed to assess CIPN in school-aged children, are significantly higher for children undergoing neurotoxic chemotherapy. Even though the neuropathy in these children was relatively mild, it was associated with functional deficits in balance and manual dexterity, suggesting clinical importance. An important limiting factor of this study is the exclusion of children younger than 5 years old, whom discomfort is evident but not properly evaluated.

  14. Genetics Home Reference: hereditary sensory and autonomic neuropathy type II

    Science.gov (United States)

    ... article on PubMed Central Huang CL, Kuo E. Mechanisms of disease: WNK-ing at the mechanism of salt-sensitive hypertension. Nat Clin Pract Nephrol. ... Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. ...

  15. Brachial plexus neuropathy - A long-term outcome study

    NARCIS (Netherlands)

    Geertzen, JHB; Groothoff, JW; Nicolai, JP; Rietman, JS

    2000-01-01

    This retrospective study assessed the long-term outcome of brachial plexus neuropathy in 16 patients. The mean follow up was 8 years. Nine patients complained of persistent pain and muscle weakness, four had continuing problems with various activities of daily living and 11 had trouble with some hou

  16. Bilateral electric energy contracts: return and risk

    Energy Technology Data Exchange (ETDEWEB)

    Gunn, Laura K.; Silva, Elisa B.; Correia, Paulo B. [State University of Campinas (UNICAMP), SP (Brazil). College of Mechanical Engineering

    2009-07-01

    In Brazil electricity is traded through three segments: the spot market that balances offer and demand, with prices calculated by a cost-based computational model; the regulated market , where prices are settled in public auctions, and the free market for bilateral contracts. As spot and regulated market prices are public information, a seller is able to calculate his opportunity price to trade a bilateral contract in the free market by using the non-arbitrage principle. Thus, the seller searches the price of a bilateral contract in the free market that balances his/her revenues with the value expected in case it were negotiated in the regulated and the spot market. Besides the expected revenue, the seller may also consider the CVaR to measure the risk of her/his bilateral contract in the free market. So this paper develops a binomial lattice approach to price bilateral contracts in the free market, considering the seller's opportunity of negotiations in both regulated and spot markets, and measuring the contract risk directly. (author)

  17. Chronic Bilateral Tibial Stress Fractures with Valgus Treated with Bilateral Intramedullary Nailing: A Case Report

    Directory of Open Access Journals (Sweden)

    Steven K Dailey

    2014-01-01

    Full Text Available Introduction: Stress fractures are overuse injuries most commonly seen in athletes, military recruits, and individuals with endocrine abnormalities. It has been demonstrated that chronic cases of anterior tibial stress fractures refractory to conservative management respond well to intramedullary nailing. To our knowledge, only one report has been published concerning patients with bilateral tibial stress fractures treated with bilateral intramedullary nailing. All patients in the series were high-level athletes. We present the case of a non-athletic patient with chronic bilateral tibial stress fractures and associated deformity successfully treated with bilateral intramedullary nails. Case Report: A 23-year-old Caucasian female full-time student presented with chronic bilateral shin pain for approximately five years. She had failed an extensive regimen of conservative management. She was diagnosed with chronic bilateral tibial stress fractures based on history, physical examination, and radiologic findings. She subsequently underwent sequential intramedullary nailing of her tibiae. Both tibiae were in valgus alignment; however, this did not preclude nail placement. The nails deformed upon insertion into the sclerotic canals to conform to the deformation. Post operatively the tibiae united and patient was relieved of her symptoms. Conclusion: Bilateral intramedullary nailing of chronic bilateral tibial stress fractures should be considered as a treatment option for all patients, not just high-level athletes, who fail a trial of conservative management. Additionally, mild to moderate tibial malalignment does not necessarily preclude tibial nailing as the smaller nails placed in sclerotic canals will likely deform on insertion and conform to the canal. Keywords: Bilateral intramedullary nailing, bilateral tibial stress fractures, valgus

  18. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Giordano, Carla; Montopoli, Monica; Perli, Elena; Orlandi, Maurizia; Fantin, Marianna; Ross-Cisneros, Fred N; Caparrotta, Laura; Martinuzzi, Andrea; Ragazzi, Eugenio; Ghelli, Anna; Sadun, Alfredo A; d'Amati, Giulia; Carelli, Valerio

    2011-01-01

    Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to mitochondrial DNA point mutations in complex I, is characterized by the selective degeneration of retinal ganglion cells, leading to optic atrophy and loss of central vision prevalently in young males. The current study investigated the reasons for the higher prevalence of Leber's hereditary optic neuropathy in males, exploring the potential compensatory effects of oestrogens on mutant cell metabolism. Control and Leber's hereditary optic neuropathy osteosarcoma-derived cybrids (11778/ND4, 3460/ND1 and 14484/ND6) were grown in glucose or glucose-free, galactose-supplemented medium. After having shown the nuclear and mitochondrial localization of oestrogen receptors in cybrids, experiments were carried out by adding 100 nM of 17β-oestradiol. In a set of experiments, cells were pre-incubated with the oestrogen receptor antagonist ICI 182780. Leber's hereditary optic neuropathy cybrids in galactose medium presented overproduction of reactive oxygen species, which led to decrease in mitochondrial membrane potential, increased apoptotic rate, loss of cell viability and hyper-fragmented mitochondrial morphology compared with control cybrids. Treatment with 17β-oestradiol significantly rescued these pathological features and led to the activation of the antioxidant enzyme superoxide dismutase 2. In addition, 17β-oestradiol induced a general activation of mitochondrial biogenesis and a small although significant improvement in energetic competence. All these effects were oestrogen receptor mediated. Finally, we showed that the oestrogen receptor β localizes to the mitochondrial network of human retinal ganglion cells. Our results strongly support a metabolic basis for the unexplained male prevalence in Leber's hereditary optic neuropathy and hold promises for a therapeutic use for oestrogen-like molecules.

  19. [Review of the recent literature on hereditary neuropathies].

    Science.gov (United States)

    Birouk, N

    2014-12-01

    The recent literature included interesting reports on the pathogenic mechanisms of hereditary neuropathies. The axonal traffic and its abnormalities in some forms of Charcot-Marie-Tooth (CMT) disease were particularly reviewed by Bucci et al. Many genes related to CMT disease code for proteins that are involved directly or not in intracellular traffic. KIF1B controls vesicle motility on microtubules. MTMR2, MTMR13 and FIG4 regulate the metabolism of phosphoinositide at the level of endosomes. The HSPs are involved in the proteasomal degradation. GDAP1 and MFN2 regulate the mitochondrial fission and fusion respectively and the mitochondial transport within the axon. Pareyson et al. reported a review on peripheral neuropathies in mitochondrial disorders. They used the term of "mitochondrial CMT" for the forms of CMT with abnormal mitochondrial dynamic or structure. Among the new entities, we can draw the attention to a proximal form of hereditary motor and sensory neuropathy with autosomal dominant inheritance, which is characterized by motor deficit with cramps and fasciculations predominating in proximal muscles. Distal sensory deficit can be present. The gene TFG on chromosome 3 has been recently identified to be responsible for this form. Another rare form of axonal autosomal recessive neuropathy due to HNT1 gene mutation is characterized by the presence of hands myotonia that appears later than neuropathy but constitute an interesting clinical hallmark to orientate the diagnosis of this form. In terms of differential diagnosis, CMT4J due to FIG4 mutation can present with a rapidly progressive and asymmetric weakness that resembles CIDP. Bouhy et al. made an interesting review on the therapeutic trials, animal models and the future therapeutic strategies to be developed in CMT disease.

  20. Prognosis of synchronous bilateral breast cancer

    DEFF Research Database (Denmark)

    Holm, Marianne; Tjønneland, Anne; Balslev, Eva;

    2014-01-01

    Currently, no consistent evidence-based guidelines for the management of synchronous bilateral breast cancer (SBBC) exist and it is uncertain how presenting with SBBC affects patients' prognosis. We conducted a review of studies analyzing the association between SBBC and prognosis. The studies...... that reported adjusted effect measures were included in meta-analyses of effect of bilaterality on breast cancer mortality. From 57 initially identified records 17 studies from 11 different countries including 8,050 SBBC patients were included. The quality of the studies varied but was generally low with small...... sample sizes, and lack of consistent, detailed histo-pathological information. When doing meta-analysis on the subgroup of studies that provided adjusted effect estimates on breast cancer mortality (nine studies including 3,631 SBBC cases), we found that bilaterality in itself had a negative impact...

  1. Bilateral Sequential Pneumolabyrinth Resulting from Nose Blowing.

    Science.gov (United States)

    Lee, Joong Seob; Kwon, Sae Young; Kim, Ji Heui; Kim, Hyung-Jong

    2015-12-01

    Pneumolabyrinth describes a condition with entrapped air in the labyrinth and usually occurs in temporal bone fractures that involve the otic capsule. While sporadic cases of bilateral pneumolabyrinth have been reported, cases lacking head trauma are very rare. We report the case of a 43-year-old man who had sudden hearing loss bilaterally after blowing his nose at an interval of 1 year. Although conservative management for the right ear and exploratory tympanotomy with sealing of the possible site of perilymphatic leakage in the left ear were performed, hearing outcome was poor in both ears. To our knowledge, this is the first case of bilateral pneumolabyrinth occurring as a result of nose blowing. PMID:26771019

  2. Langerhans Cell Histiocytosis in Bilateral Mastoid Cavity

    Directory of Open Access Journals (Sweden)

    Kazım Bozdemir

    2013-01-01

    Full Text Available A 39-year-old male was admitted to our clinic with symptoms of headache, dizziness, nausea, otalgia, otorrhea, tinnitus, and hearing loss in both ears for 3 weeks. Physical examination revealed edema in the tympanic membrane and external ear canal, and pain by palpation in the mastoid area bilaterally. There was no nystagmus, and the rest of the physical examination was otherwise normal. Temporal bone high resolution computed tomography (CT showed a lesion causing erosion in the mastoid cortex, tegmen tympani, ossicles, and in the bone covering the sigmoid sinus bilaterally. There was also erosion in the superior semicircular canal and petrous bone on the left side. Cortical mastoidectomy was performed under general anesthesia. Histopathologic examination of the tissue revealed Langerhans cell histiocytosis (LCH. In this paper a case with LCH, presenting with bilateral mastoid involvement which has been rarely reported in the literature, is discussed with the existing literature.

  3. Congenital bilateral perisylvian syndrome with hydrocephalus

    Directory of Open Access Journals (Sweden)

    Salih Hattapoğlu

    2012-12-01

    Full Text Available Congenital bilateral perisylvian syndrome (CBPS, whichis seen by indications of mental retardasyon, epilepsi,speech disorder and pseudobulbar palsy, is a diseasewhich comes up with genetic and non-genetic reasons.Revealing characteristic indications (like polymicrogyriawith MR imaging and clinic indications contributes makingdiagnosis. In present paper, we aimed to present 18month girl case report who diagnosed as CBPS with hydrocephaliindication. J Clin Exp Invest 2012; 3(4: 552-554Key words: Epilepsy, congenital bilateral perisylviansyndrome, polymicrogyria, hydrocephalus, pseudobulbarpalsy

  4. [Bilateral choroidal osteoma--a case report].

    Science.gov (United States)

    Jędrychowska-Jamborska, Justyna; Kulig-Stochmal, Agnieszka; Markiewicz, Anna; Jakubowska, Barbara; Romanowska-Dixon, Bożena

    2014-01-01

    Choroidal osteoma is a an extremely rare (especially located bilaterally), benign, intraocular tumor, the type of choristoma. It occurs between 2-3 decades of life, women are particularly vulnerable. The main complication in 1/3 cases is a subretinal neovascularization which may cause bleeding. The gradually progressive decalcification develops within the tumour over time, which causes atrophy of the retinal pigment epithelium and Bruch's membrane deformity. The article presents a case of a 26-year-old woman with bilateral choroidal osteoma complicated by subretinal hemorrhage; the diagnosis was based on clinical examination (biomicroscopy and indirect ophthalmoscopy) as well as specialised tests including: ultrasonography, optical coherence tomography, and fluorescein angiography.

  5. Bilateral hypertrophic olivary degeneration in Wilson disease

    Energy Technology Data Exchange (ETDEWEB)

    Otto, Josephin; Guenther, Pete; Hoffmann, Karl Titus [Leipzig University Hospital, Leipzig (Greece)

    2013-04-15

    Hypertrophic olivary degeneration resulting from lesions of the dento-rubro-olivary pathway, also called Guillain-Mollaret-triangle, has been described previously in a number of cases. Reports about bilateral hypertrophic olivary degeneration of the inferior olivary nuclei are very limited, and the magnetic resonance imaging findings of hypertrophic olivary degeneration in Wilson disease have not yet been described to the best of our knowledge. Herein, we present the first report of bilateral hypertrophic olivary degeneration diagnosed by magnetic resonance imaging in a patient suffering from Wilson disease.

  6. UTILITY OF F WAVE MINIMAL LATENCY FOR DIAGNOSIS OF DIABETIC NEUROPATHY

    Directory of Open Access Journals (Sweden)

    Gargate

    2014-12-01

    Full Text Available BACKGROUND: Diabetes mellitus (DM is a metabolic disorder which has become a major public health problem worldwide. Its commonest complication is diabetic peripheral neuropathy (DPN. DPN is characterized by combining axonal loss and demyelinating sensory motor peripheral neuropathy. To investigate this condition nerve conduction studies with determination of latency and velocity are commonly used as they are considered to be the most sensitive, reliable, non-invasive and objective means. DPN is believed to affect mainly distal nerve segments. However, it has been recently reported that F-wave study in diabetic patients is very reliable. AIM: Aim of the present study was to find out whether F-wave minimal latency (FWML is having more sensitivity compared to motor nerve conduction study for diagnosis of DPN. METHODS AND MATERIALS: Motor and sensory nerve conduction and F-wave studies of upper and lower extremity nerves were carried out bilaterally in 60 clinically diagnosed patients with Type II diabetes mellitus. These parameters were also studied in 45 age matched controls. RESULTS: Sensitivity for distal motor latency (DML was 53.33% in median, 26.31% in ulnar, 25.8% in peroneal and 41.17% in tibial nerves. Sensitivity for motor amplitude- compound muscle action potential (CMAP was 56.66% in the median, 66.66% in ulnar, 80.64% in personnel and 72.54% in tibial nerves. Sensitivity for motor conduction velocity (MNCV was 50% in the median, 47.36% in ulnar, 77.41% in personnel and 72.55% in tibial nerves. Sensitivity for distal sensory latency (DSL was 37.97% in the median, 23.8% in ulnar, 41.5% in sural nerves. Sensitivity for sensory amplitude (SNAP was 8.01% in the median, 64.28% in ulnar and 60.37% in sural nerves. Sensitivity for sensory conduction velocity (SNCV was 40.5% in median, 26.19% in ulnar and 58.49% in Sural nerves. Prolonged FWMLs were found in 73.87% of median, 69% of ulnar, 72.72% of peroneal and 68.96% of tibial nerves. The

  7. Bilateral Diabetic Papillopathy and Metabolic Control

    DEFF Research Database (Denmark)

    Ostri, Christoffer; Lund-Andersen, Henrik; Sander, Birgit;

    2010-01-01

    patient-years of observation, bilateral diabetic papillopathy developed in 5 patients. During the year preceding this incident, all 5 patients had experienced a decrease in glycosylated hemoglobin A(1c) (HbA(1C)) at a maximum rate of -2.5 (mean) percentage points per quarter year, which was significantly...

  8. Bilateral breast cancer : mammographic and clinical findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Eun Kyung; Oh, Ki Keun; Jun, Hwang Yoon; Lee, Byung Chan; Lee, Kyong Sik; Lee, Yong Hee [Yonsei Univ. College of Medicine, Seoul (Korea, Republic of)

    1997-06-01

    To evaluate the mammographic and clinical features of bilateral breast cancer. We retrospectively reviewed clinical records(n=23) and mammograms (n=15) of 23 patients with bilateral breast cancer. Patients' age, location of the tumor and pathologic staging were determined from clinical records. Mammographic features were classified as spiculated mass, nonspiculated mass, mass with microcalcification, microcalcification only, asymmetric density, and normal. Of the 23 cases of bilateral breast cancer, 8(34.8%) were synchronous and 15(65.2%) were metachronous. Age at diagnosis of cancer in the first breast was between 27 and 59(mean 43) years ; there was no statistically significant difference in mean age between patients with synchronous and metachronous cancer. The mean interval between the diagnosis of each lesion of the metachronous pairs was 9.1 years. In 11 of 23 cases(48%), tumors were locaated in the same quadrant, and in the other 12 cases(52%), they were in different quadrant. At mammography, five of 15 metachronous cancers(33%) were similar in appearance and 10 pairs(67%) were different. In 4 of 23 cases(17%), cancer in the first breast was at stage 0 and stage 1, and in 13 of 23(57%), cancer in the second breast was at this same stage. In bilateral breast cancer, the two breasts frequently show different mammographic features. Cancer of the second breast was at an early stage; this suggest that regular examination and mammography are important and can allow early detection of contralateral breast cancer.

  9. Occipital seizures presenting with bilateral visual loss

    OpenAIRE

    Hadjikoutis S; Sawhney I

    2003-01-01

    Transient visual loss may occur with occipital seizures as an ictal or post-ictal phenomenon. Its duration varies from less than one minute to days, or can be permanent. We describe a 61-year-old man presenting with headache, vomiting and bilateral visual loss. EEG revealed persistent spike discharge in the occipital lobes suggesting occipital seizures. His vision improved with carbamazepine.

  10. Simulations of bilateral energy markets using MATLAB

    International Nuclear Information System (INIS)

    This paper presents simulation results of energy bilateral markets using MATLAB/SIMULINK. The algorithm for congestion management and transmission pricing is implemented by means of DC load flow. The simulation results show how elasticity of market participants to transmission usage charges can affect the overall network usage and its cost. (Author)

  11. Bilateral eyelid edema : Cutis laxa or blepharochalasis?

    NARCIS (Netherlands)

    Braakenburg, A; Nicolai, JPA

    2000-01-01

    A 59-year-old woman with massive bilateral edema of the upper and lower eyelids is presented. The edema occurred suddenly and without provocation. No cause could be identified despite a multitude of examinations. Initially the patient was diagnosed as having blepharochalasis, but later skin biopsy s

  12. A Bilateral Traumatic Hip Obturator Dislocation

    Science.gov (United States)

    Karaarslan, Ahmet Adnan; Acar, Nihat; Karci, Tolga; Sesli, Erhan

    2016-01-01

    A case of a bilateral simultaneous traumatic obturator dislocation of both hip joints in an 18-year-old young man following a traffic accident is presented. We reduced the dislocated femoral heads immediately under general anesthesia followed by passive and active exercises and early full-weight bearing mobilization. After 5 years, the result was excellent. PMID:26977327

  13. Bilateral synchronous rupture of the quadriceps tendon.

    LENUS (Irish Health Repository)

    Ellanti, P

    2012-09-01

    Bilateral simultaneous rupture of the quadriceps tendon is a rare entity. They are often associated with degenerative changes of the tendons and predisposing conditions such as diabetes or excessive steroid use. They most commonly tend to occur in patients of 40 years of age or older.

  14. Fast and Provably Accurate Bilateral Filtering.

    Science.gov (United States)

    Chaudhury, Kunal N; Dabhade, Swapnil D

    2016-06-01

    The bilateral filter is a non-linear filter that uses a range filter along with a spatial filter to perform edge-preserving smoothing of images. A direct computation of the bilateral filter requires O(S) operations per pixel, where S is the size of the support of the spatial filter. In this paper, we present a fast and provably accurate algorithm for approximating the bilateral filter when the range kernel is Gaussian. In particular, for box and Gaussian spatial filters, the proposed algorithm can cut down the complexity to O(1) per pixel for any arbitrary S . The algorithm has a simple implementation involving N+1 spatial filterings, where N is the approximation order. We give a detailed analysis of the filtering accuracy that can be achieved by the proposed approximation in relation to the target bilateral filter. This allows us to estimate the order N required to obtain a given accuracy. We also present comprehensive numerical results to demonstrate that the proposed algorithm is competitive with the state-of-the-art methods in terms of speed and accuracy. PMID:27093722

  15. Bilateral segmental neurofibromatosis diagnosed during pregnancy.

    Science.gov (United States)

    Maldonado Cid, P; Sendagorta Cudós, E; Noguera Morel, L; Beato Merino, M J

    2011-01-01

    Bilateral segmental neurofibromatosis is a rare subtype of neurofibromatosis type 1 defined by lesions affecting a single segment of the body and crossing the midline, with no systemic involvement. We present a case diagnosed during pregnancy because of the characteristic increase in size of the lesions during this period. PMID:21635828

  16. [Congenital lumbar hernia and bilateral renal agenesis].

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  17. Synchronous bilateral breast cancer in a male

    OpenAIRE

    Rubio Hernández, María Caridad; Díaz Prado, Yenia Ivet; Pérez, Suanly Rodríguez; Díaz, Ronald Rodríguez; Aleaga, Zaili Gutiérrez

    2013-01-01

    Male breast cancer, which represents only 1% of all breast cancers, is occasionally associated with a family history of breast cancer. Sporadic male breast cancers presenting with another primary breast cancer are extremely rare. In this article, we report on a 70-year-old male patient with bilateral multifocal and synchronous breast cancer and without a family history of breast cancer.

  18. Bilateral renal agenesis in an alpaca cria

    OpenAIRE

    Poulsen, Keith P; Gerard, Mathew P.; Spaulding, Kathy A.; Geissler, Kyleigh A.; Anderson, Kevin L.

    2006-01-01

    A 3-day-old male alpaca cria was presented for lack of vigor and failure to urinate since birth. Based on the history, laboratory data, ultrasonographs, surgical findings, and postmortem examination, the cria was diagnosed with bilateral renal agenesis and hypoplastic bladder, a congenital condition rarely seen in veterinary medicine.

  19. Bilateral Facial Nerve Palsy: A Diagnostic Dilemma

    Directory of Open Access Journals (Sweden)

    Sohil Pothiawala

    2012-01-01

    Conclusion. We reinforce the importance of considering the range of differential diagnosis in all cases presenting with bilateral FNP. These patients warrant admission and prompt laboratory and radiological investigation for evaluation of the underlying cause and specific further management as relevant.

  20. "Ostrich sign" indicates bilateral vertebral artery dissection.

    Science.gov (United States)

    Rose, David Z; Husain, M Rizwan

    2012-11-01

    Vertebral artery dissections (VADs) comprise about 2% of ischemic strokes and can be associated with trauma, chiropractic manipulation, motor vehicle collisions, whiplash, amusement park rides, golfing, and other motion-induced injuries to the neck. We present a case of bilateral extracranial VAD as a complication of conducting an orchestra. To our knowledge, this has not been documented in the literature. Conceivably, vigorous neck twisting in an inexperienced, amateur conductor may place excessive rotational forces upon mobile portions of the verterbral arteries, tear the intima, deposit subintimal blood that extends longitudinally, and cause neck pain and/or posterior fossa ischemic symptoms. Magnetic resonance angiography examinations of axially oriented slices of bilateral VADs resemble the face of an ostrich. This observation is similar to the "puppy sign," in which bilateral internal carotid artery dissections resemble the face of a dog. Craniocervical dissections of either the carotid or vertebral arteries have the potential to form an aneurysm, cause artery-to-artery embolism, or completely occlude the parent artery, resulting in an ischemic stroke. Because bilateral VADs in axial magnetic resonance angiographic sections stand out like the eyes of an ostrich, and because the fast identification of VADs is so critical, we eponymize this image the "ostrich sign."

  1. Severe Hyperkalemia and Bilateral Adrenal Metastasis

    Directory of Open Access Journals (Sweden)

    Michael Nagler

    2009-01-01

    Full Text Available Adrenal metastases are a common finding in metastatic lung and breast cancer. Often there are no clinical symptoms suggesting them. In this paper, we present a case of a 66-year-old man with metastatic lung cancer suffering from severe hyperkaliemia due to hypoaldosteronism as a result of bilateral adrenal metastasis.

  2. Bilateral carpal tunnel syndrome in Graves' disease.

    Science.gov (United States)

    Manganelli, P; Pavesi, G; Salaffi, F

    1987-01-01

    Carpal tunnel syndrome (CTS) may be associated with endocrinopathies, such as hypothyroidism and acromegaly. A direct relationship between CTS and hyperthyroidism has recently been suggested. We now report a case in which bilateral CTS developed after treatment of Graves' disease, thus, questioning the possibility of a relationship between these two disease processes.

  3. Bilateral posterior RION after concomitant radiochemotherapy with temozolomide in a patient with glioblastoma multiforme: a case report

    International Nuclear Information System (INIS)

    Radiation induced optic neuropathy (RION) is a rare but severe consequence of radiation therapy that is associated with adjuvant chemotherapy, specifically therapy with vincristine or nitrosoureas. However, there is very little evidence regarding the occurrence of RION after concomitant radiochemotherapy with temozolomide. The case of a 63 year old woman with glioblastoma multiforme and concomitant radiochemotherapy with temozolomide is described. Due to a slight depressive episode the patient also took hypericum perforatum. Five months after cessation of fractionated radiation and adjuvant chemotherapy with temozolomide (cumulative dose of 11040 mg) the patient developed bilateral amaurosis due to RION. Tumor regrowth was excluded by magnetic resonance imaging. After the application of gadolinium a pathognomonic contrast enhancement of both prechiasmatic optic nerves could be observed. In this patient, the occurrence of RION may have been the result of radiosensitization by temozolomide, which could have been strengthened by hypericin. Consequently, physicians should avoid a concomitant application of hypericum perforatum and radiochemotherapy

  4. [Optic nerve swelling and gadolinium contrast enhancement on magnetic resonance imaging in the subacute stage of Leber's hereditary optic neuropathy: a case report].

    Science.gov (United States)

    Furuki, Misako; Ohkubo, Takuya; Ota, Kiyobumi; Ishikawa, Kinya; Yokota, Takanori; Mizusawa, Hidehiro

    2012-01-01

    We report the case of a 50-year-old man with subacute onset of bilateral visual field loss and visual acuity loss. His visual acuity was 0.07 OD/0.09 OS and Goldmann perimetry showed central scotomas. The optic fundi were normal bilaterally. Magnetic resonance imaging (MRI) showed hyperintensity in the right optic nerve on T(2) weighted imaging and swelling of the optic chiasm with slight enhancement of the bilateral optic nerves and the optic chiasm on gadolinium-enhanced imaging. Since sensory disturbance in the left hand and leg was noted in addition to the visual problem, multiple sclerosis (MS) was suspected initially. The patient was treated with intravenous methylprednisolone (1,000 mg/day), plasma exchange therapy, and immunosuppressant therapy. However, his visual disturbance did not improve. He had a history of deafness and family history of visual disturbance, because of which we performed an analysis of mitochondrial DNA. G11778A point mutation was found, and a diagnosis of Leber's hereditary optic neuropathy (LHON) was made. Although gadolinium contrast enhancement and swelling of the optic nerve are rare, this case shows that these findings are not in conflict with LHON. The present case also suggests that mitochondrial dysfunction may trigger the onset of MS-like extraocular symptoms in patients with LHON.

  5. Plasma adrenaline kinetics in type 1 (insulin-dependent) diabetic patients with and without autonomic neuropathy

    DEFF Research Database (Denmark)

    Dejgaard, A; Hilsted, J; Henriksen, Jens Henrik Sahl;

    1989-01-01

    labelled adrenaline had been stopped was significantly prolonged in Type 1 diabetic patients with neuropathy compared to those without (after 20 min infusion 2.7 vs 2.2 min, p less than 0.02, after 75 min infusion 3.7 vs 2.9 min, p less than 0.05). The corresponding values for the mean sojourn time...... volume in Type 1 diabetic patients with neuropathy as compared to patients without neuropathy (estimated space of distribution 29 vs 20 l). Our results suggest that patients with diabetic neuropathy do not adjust the plasma adrenaline concentration to changes in adrenaline infusion rate as rapidly...... as those without neuropathy, i.e. the effect of an elevated adrenaline secretion rate may be prolonged in patients with diabetic autonomic neuropathy....

  6. The effects of capillary dysfunction on oxygen and glucose extraction in diabetic neuropathy

    DEFF Research Database (Denmark)

    Østergaard, Leif; Finnerup, Nanna B.; Terkelsen, Astrid J.;

    2015-01-01

    Diabetic neuropathy is associated with disturbances in endoneurial metabolism and microvascular morphology, but the roles of these factors in the aetiopathogenesis of diabetic neuropathy remain unclear. Changes in endoneurial capillary morphology and vascular reactivity apparently predate...... the development of diabetic neuropathy in humans, and in manifest neuropathy, reductions in nerve conduction velocity correlate with the level of endoneurial hypoxia. The idea that microvascular changes cause diabetic neuropathy is contradicted, however, by reports of elevated endoneurial blood flow in early...... experimental diabetes, and of unaffected blood flow when early histological signs of neuropathy first develop in humans. We recently showed that disturbances in capillary flow patterns, so-called capillary dysfunction, can reduce the amount of oxygen and glucose that can be extracted by the tissue for a given...

  7. Posterior Ischemic Optic Neuropathy Following Percutaneous Nephrolithotomy

    Directory of Open Access Journals (Sweden)

    Mohammad Pakravan

    2008-12-01

    Full Text Available

    PURPOSE: To report a case of posterior ischemic optic neuropathy (PION following percutaneous nephrolithotomy (PCNL. CASE REPORT: A 57-year-old man with history of diabetes mellitus, hyperlipidemia and mild anemia underwent PCNL for treatment of nephrolithiasis. He noticed painless visual loss in both eyes immediately after the procedure. Visual acuity was light perception, however ophthalmologic examinations were unremarkable and the optic discs were pink with no swelling. Visual fields were severely affected, but neuro-imaging was normal. Within three months, visual acuity and visual fields improved dramatically but the optic discs became slightly pale. CONCLUSION: This is the first report of PION following PCNL. PION is a rare cause of severe visual loss following surgery. Severe blood loss, hypotension, anemia and body position during surgery are the most important risk factors. Ophthalmologists, urologists and anesthesiologists should be aware of this condition and this rare possibility should be considered prior to surgery.

  1. Small Fiber Neuropathy Associated with Hyperlipidemia: Utility of Cutaneous Silent Periods and Autonomic Tests

    OpenAIRE

    Morkavuk, G.; Leventoglu, A.

    2014-01-01

    Background. Established electrophysiological methods have limited clinical utility in the diagnosis of small fiber neuropathy. The cutaneous silent period (CSP) may be useful as a method for the evaluation of smaller and unmyelinated fiber dysfunctions. Hyperlipidemia is a very rare cause of small fiber neuropathy. In this study, hyperlipidemia and small fiber neuropathy in symptomatic patients with normal nerve conduction studies were evaluated with autonomic tests and cutaneous silent perio...

  2. Animal Models of Diabetic Neuropathy: Progress Since 1960s

    OpenAIRE

    Md. Shahidul Islam

    2013-01-01

    Diabetic or peripheral diabetic neuropathy (PDN) is one of the major complications among some other diabetic complications such as diabetic nephropathy, diabetic retinopathy, and diabetic cardiomyopathy. The use of animal models in the research of diabetes and diabetic complications is very common when rats and mice are most commonly used for many reasons. A numbers of animal models of diabetic and PDN have been developed in the last several decades such as streptozotocin-induced diabetic rat...

  3. Skin biopsies in the evaluation of atypical optic neuropathies.

    Science.gov (United States)

    Bielory, L; Kupersmith, M; Warren, F; Bystryn, J; Frohman, L

    1993-01-01

    Patients with atypical clinical presentations of common optic neuropathies such as optic neuritis (ON), anterior ischemic optic neuropathy (AION), or optic neuropathy of unknown etiology (UON) are difficult to distinguish from inflammatory autoimmune optic neuropathy (AON) which is typically associated with a poor visual prognosis, unless treated with high doses of corticosteroids and/or immunosuppressive agents. The authors retrospectively evaluated 34 patients [AON (n = 12); AION (n = 5); ON (n = 9); UON (n = 8)] with visual loss which deteriorated over weeks to months or followed an atypical course, for the presence of immunological markers suggestive of AON. These markers included serological testing for antiphospholipid (APA) and antinuclear (ANA) antibodies, and evaluation of histopathologic and immunofluorescent staining of skin biopsies. All patients underwent a skin biopsy. Four of the 12 patients with AON had urticarial cutaneous lesions which revealed leukocytoclastic and/or lymphohistiocytic vasculitis. Seven of the remaining eight AON patients had skin biopsies of non-lesional skin which revealed immunoreactant deposition. Seven of the 21 skin biopsies obtained from the non-AON patients had findings of vacuolization or mild perivascular infiltration of lymphocytes (n = 5) and immunofluorescent deposits (n = 2). Abnormal skin biopsies (92%;p = 0.0009) and circulating APA (82%; p = 0.013) were common in AON patients while ANA was not statistically increased in AON patients (p = 0.06) when compared to the remaining patients as a whole. AON patients typically demonstrate evidence of systemic autoimmune involvement, as manifested by cutaneous abnormalities such as urticarial vasculitis and/or immunoreactant deposition and circulating APA. These may serve as markers for identifying AON patients who may be treated with immunomodulatory agents. PMID:22822778

  4. Acute Inflammatory Demyelinating Neuropathy : Immunoglobulin And Immune Complex Profile

    OpenAIRE

    Shripad A; Patil; Taly Arun B; Puttaram Sowbhagya; Rao Shivaji; Menon Ashok; Nair KPS

    2003-01-01

    Serum immunoglobulins (IgG, IgA and IgM) and immune complexes IgG (IcG) were measured in 58 cases of acute inflammatory demyelinating neuropathy, popularly known as Guillian Barre′ syndrome, and in 30 healthy controls using single radial immunodiffusion assay. Immunoglobulin and immune complex levels were significantly elevated in patients as compared to controls. The increased levels of immunoglobulins and immune complexes may contribute to the pathogenesis of the disease and provid...

  5. Pathogenesis of diabetic neuropathy: bad to the bone

    OpenAIRE

    Chan, Lawrence; Terashima, Tomoya; Urabe, Hiroshi; Lin, Fan; Kojima, Hideto

    2011-01-01

    Insulin and proinsulin are normally produced only by the pancreas and thymus. We detected in diabetic rodents the presence of extra pancreatic proinsulin-producing bone marrow-derived cells (PI-BMDCs) in the BM, liver, and fat. In mice and rats with diabetic neuropathy, we also found proinsulin-producing cells in the sciatic nerve and neurons of the dorsal root ganglion (DRG). BM transplantation experiments using genetically marked donor and recipient mice showed that the proinsulin-producing...

  6. Neuroprotection - new promising treatment for glaucomatous optic neuropathy

    Institute of Scientific and Technical Information of China (English)

    Jian-He Xiao; Mao-Nian Zhang

    2010-01-01

    @@ Glaucoma is the second leading cause of blindness worldwide, and also the most common optic neuropathy, affecting about 60 million people worldwide in its most common forms. This figure is expected to rise to 80 million by 2020[1-2]. In glaucoma, the ultimate cause of vision loss in glaucoma is thought to be retinal ganglion cell (RGC) death. Neuroprotection of RGC is therefore an important goal of glaucoma therapy[3].

  7. Pyridoxine induced neuropathy by subcutaneous administration in dogs

    OpenAIRE

    Chung, Jin-Young; Choi, Jung-Hoon; HWANG, Cheol-Yong; Youn, Hwa-Young

    2008-01-01

    To construct a sensory neuropathy model, excess pyridoxine (150 mg/kg s.i.d.) was injected subcutaneously in dogs over a period of 7 days. During the administrations period, the dogs experienced body weight reduction and proprioceptive loss involving the hindquarters. After pyridoxine administration was completed, electrophysiological recordings showed that the M wave remained at a normal state, but the H-reflex of the treated dogs disappeared at 7 days. The dorsal funiculus of L4 was disrupt...

  8. Clinical Research on Acupuncture Treatment of Diabetic Peripheral Neuropathy

    Institute of Scientific and Technical Information of China (English)

    QIAN Wei-hua; QIAN Hong; WU Tong; BEI Yan-hui; LI Lan; QING Liang-cai

    2004-01-01

    目的:探讨针刺治疗糖尿病周围神经病变的相关机理.方法:运用针刺疗法治疗糖尿病周围神经病变,并与口服钙离子拮抗剂加维生素疗法进行随机对照观察,同时作肌电图检测分析.结果:针刺治疗糖尿病周围神经病变可不同程度地改善病人的肢体麻木、疼痛和感觉异常等临床症状,肌电图结果提示神经运动传导速度和感觉传导速度也有明显改善.结论:针刺治疗糖尿病周围神经病变的临床疗效明显优于口服钙离子拮抗剂加维生素治疗.%Purpose: To investigate the mechanism of acupuncture treatment of diabetic peripheral neuropathy. Methods: Acupuncture therapy was used to treat diabetic peripheral neuropathy, and compared with oral calcium antagonist and vitamin therapy by random control observation.Electromyography was performed for analysis at the same time. Results: Acupuncture treatment alleviated symptoms such as extremity numbness, pain and paresthesia in varying degrees in diabetic patients with peripheral neuropathy. The results of electromyography showed a marked improvement in motor and sensory conduction velocities. Conclusion: It is indicated that acupuncture therapy is markedly superior to oral calcium antagonist and vitamin therapy in clinical effect on diabetic peripheral neuropathy, and electromyographic recovery.

  9. "Congenital Sensory Neuropathy as a Differential Diagnosis for Phagocytic Immunodeficiency "

    Directory of Open Access Journals (Sweden)

    Mohammad Gharagozlou

    2006-03-01

    Full Text Available There are few reports about congenital indifference to pain or Hereditary and Sensory Autonomic Neuropathy (HSAN. Several investigations for pathophysiology of this syndrome have been performed and different classifications about it. In this report we present a case of HSAN type II with general absence of pain and self amputations and leprosy–like damage of extremities which was suspected to be phagocytic immunodeficiency due to past history of repeated ulcer and abscess formation.

  10. Obturator neuropathy: a cause of exercise-related groin pain.

    Science.gov (United States)

    Brukner, P; Bradshaw, C; McCrory, P

    1999-05-01

    Obturator neuropathy is a cause of exercise-related groin pain, particularly in those who play sports that involve much running, twisting and turning, and kicking. Symptoms include pain that begins insidiously at the adductor origin on the pubic bone and worsens with exercise. Diagnostic measures include reproduction of pain by stretching the pectineus muscle after exercise, electromyography, and a local anesthetic block of the obturator nerve. Surgery allows most patients to resume previous levels of activity.

  11. Hardware Implementation of a Bilateral Subtraction Filter

    Science.gov (United States)

    Huertas, Andres; Watson, Robert; Villalpando, Carlos; Goldberg, Steven

    2009-01-01

    A bilateral subtraction filter has been implemented as a hardware module in the form of a field-programmable gate array (FPGA). In general, a bilateral subtraction filter is a key subsystem of a high-quality stereoscopic machine vision system that utilizes images that are large and/or dense. Bilateral subtraction filters have been implemented in software on general-purpose computers, but the processing speeds attainable in this way even on computers containing the fastest processors are insufficient for real-time applications. The present FPGA bilateral subtraction filter is intended to accelerate processing to real-time speed and to be a prototype of a link in a stereoscopic-machine- vision processing chain, now under development, that would process large and/or dense images in real time and would be implemented in an FPGA. In terms that are necessarily oversimplified for the sake of brevity, a bilateral subtraction filter is a smoothing, edge-preserving filter for suppressing low-frequency noise. The filter operation amounts to replacing the value for each pixel with a weighted average of the values of that pixel and the neighboring pixels in a predefined neighborhood or window (e.g., a 9 9 window). The filter weights depend partly on pixel values and partly on the window size. The present FPGA implementation of a bilateral subtraction filter utilizes a 9 9 window. This implementation was designed to take advantage of the ability to do many of the component computations in parallel pipelines to enable processing of image data at the rate at which they are generated. The filter can be considered to be divided into the following parts (see figure): a) An image pixel pipeline with a 9 9- pixel window generator, b) An array of processing elements; c) An adder tree; d) A smoothing-and-delaying unit; and e) A subtraction unit. After each 9 9 window is created, the affected pixel data are fed to the processing elements. Each processing element is fed the pixel value for

  12. A review of bilateral training for upper extremity hemiparesis.

    Science.gov (United States)

    Stoykov, Mary Ellen; Corcos, Daniel M

    2009-01-01

    Upper extremity hemiparesis is the most common post-stroke disability. Longitudinal studies have indicated that 30-66% of stroke survivors do not have full arm function 6 months post-stroke. The current gold standard for treatment of mild post-stroke upper limb impairment is constraint-induced therapy but, because of the inclusion criteria, alternative treatments are needed which target more impaired subjects. Bilateral arm training has been investigated as a potential rehabilitation intervention. Bilateral arm training encompasses a number of methods including: (1) bilateral isokinematic training; (2) mirror therapy using bilateral training; (3) device-driven bilateral training; and (4) bilateral motor priming. Neural mechanisms mediating bilateral training are first reviewed. The key bilateral training studies that have demonstrated evidence of efficacy will then be discussed. Finally, conclusions are drawn concerning clinical implications based on the reviewed literature. PMID:19517519

  13. Bilateral spontaneous pneumothorax with pulmonary metastases of synovial sarcoma

    International Nuclear Information System (INIS)

    The association of bilateral spontaneous pneumothorax with pulmonary tumor is uncommon and with pulmonary metastases is rare. The clinical and radiological features of bilateral spontaneous pneumothorax from a synovial sarcoma in a 14 years old boy are described. (author)

  14. Bilateral cerebellar activation in unilaterally challenged essential tremor

    Directory of Open Access Journals (Sweden)

    Marja Broersma

    2016-01-01

    Conclusions: Our results expand on previous findings of bilateral cerebellar involvement in ET. We have identified specific areas in the bilateral somatomotor regions of the cerebellum: lobules V, VI and VIII.

  15. Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

    Science.gov (United States)

    Potulska-Chromik, Anna; Ryniewicz, Barbara; Aragon-Gawinska, Karolina; Kabzinska, Dagmara; Seroka, Andrzej; Lipowska, Marta; Kaminska, Anna M; Kostera-Pruszczyk, Anna

    2016-03-01

    Childhood chronic inflammatory demyelinating polyneuropathy (CIDP) needs to be differentiated from hereditary neuropathy. We aimed to validate existing CIDP nerve conduction study (NCS) criteria in a group of children with demyelinating neuropathies of chronic or subacute onset. Retrospective analysis of clinical and NCS results in 18 children with CIDP, 7 with hereditary neuropathy with pressure palsy (HNPP), and 24 with Charcot-Marie-Tooth 1a (CMT1a). AAN and EFNS electrodiagnostic CIDP criteria were fulfilled in 17 of 18 CIDP, 3 of 7 HNPP, and 23 of 24 CMT1a patients. A distal compound muscle action potential (dCMAP) of >9 ms was observed in 14 of 18 CIDP patients but not in any patients with HNPP. Abnormal median/normal sural SNAP (AMNS) and a 10 m/s difference between conduction velocities (CV) of two corresponding nerves were not observed in any CMT1a patients. NCS in CMT1a, HNPP, and CIDP reflect demyelination. dCMAP duration, sensory AMNS, and a 10 m/s CV difference parameter are most useful in the differential diagnosis of pediatric CIDP. PMID:26663344

  16. Inflammatory Neuropathy of the Lumbosacral Plexus following Periacetabular Osteotomy

    Directory of Open Access Journals (Sweden)

    Stijn Ghijselings

    2016-01-01

    Full Text Available Introduction. During periacetabular osteotomy (PAO, the sciatic, femoral, and obturator nerves are at risk. Most frequently nerve lesions can be attributed to a mechanical cause; however, in the absence of a clear mechanical cause surgeons are faced with a diagnostic problem and in many cases no diagnosis will be established. We report a case of inflammatory neuropathy of the lumbosacral plexus following a PAO. Case Presentation. A 31-year-old female developed weakness of ankle and knee flexion and extension 6 months after a PAO. Electrophysiological studies revealed damage to the obturator, femoral, and sciatic nerve consistent with an inflammatory lumbosacral plexopathy. MRI of the lumbosacral plexus was normal. The patient was treated with multimodal pain therapy and prolonged physiotherapy; nevertheless, symptoms worsened over time. At 2-year follow-up, there were no signs of recovery. Discussion. Inflammatory neuropathy of the lumbosacral plexus is a potential cause of pain and weakness after ipsilateral orthopaedic procedures. It should be distinguished from more frequently encountered mechanical causes of postsurgical neuropathy based on clinical suspicion, electrophysiological studies, MRI, and nerve biopsy. It is important that the orthopaedic community is aware of this complication since there is some evidence that early recognition and initiation of immunosuppressive therapy can lead to improved clinical outcome.

  17. Amiodarone-Associated Optic Neuropathy: A Critical Review

    Science.gov (United States)

    Passman, Rod S.; Bennett, Charles L.; Purpura, Joseph M.; Kapur, Rashmi; Johnson, Lenworth N.; Raisch, Dennis W.; West, Dennis P.; Edwards, Beatrice J.; Belknap, Steven M.; Liebling, Dustin B.; Fisher, Mathew J.; Samaras, Athena T.; Jones, Lisa-Gaye A.; Tulas, Katrina-Marie E.; McKoy, June M.

    2011-01-01

    Although amiodarone is the most commonly prescribed antiarrhythmic drug, its use is limited by serious toxicities, including optic neuropathy. Current reports of amiodarone associated optic neuropathy identified from the Food and Drug Administration's Adverse Event Reporting System (FDA-AERS) and published case reports were reviewed. A total of 296 reports were identified: 214 from AERS, 59 from published case reports, and 23 from adverse events reports for patients enrolled in clinical trials. Mean duration of amiodarone therapy before vision loss was 9 months (range 1-84 months). Insidious onset of amiodarone associated optic neuropathy (44%) was the most common presentation, and nearly one-third were asymptomatic. Optic disc edema was present in 85% of cases. Following drug cessation, 58% had improved visual acuity, 21% were unchanged, and 21% had further decreased visual acuity. Legal blindness (< 20/200) was noted in at least one eye in 20% of cases. Close ophthalmologic surveillance of patients during the tenure of amiodarone administration is warranted. PMID:22385784

  18. Japanese neuropathy patients with peripheral myelin protein-22 gene aneuploidy

    Energy Technology Data Exchange (ETDEWEB)

    Lebo, R.V.; Li, L.Y.; Flandermeyer, R.R. [Univ. of California, San Francisco, CA (United States)] [and others

    1994-09-01

    Peripheral myelin protein (PMP-22) gene aneuploidy results in Charcot-Marie-Tooth disease Type 1A (CMT1A) and the Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) in Japanese patients as well as Caucasian Americans. Charcot-Marie-Tooth disease (CMT), the most common genetic neuropathy, results when expression of one of at least seven genes is defective. CMT1A, about half of all CMT mutations, is usually associated with a duplication spanning the peripheral myelin protein-22 gene on distal chromosome band 17p11.2. Autosomal dominant HNPP (hereditary pressure and sensory neuropathy, HPSN) results from a deletion of the CMT1A gene region. Multicolor in situ hybridization with PMP-22 gene region probe characterized HNPP deletion reliably and detected all different size duplications reported previously. In summary, 72% of 28 Japanese CMT1 (HMSNI) patients tested had the CMT1A duplication, while none of the CMT2 (HMSNII) or CMT3 (HMSNIII) patients had a duplication. Three cases of HNPP were identified by deletion of the CMT1A gene region on chromosome 17p. HNPP and CMT1A have been reported to result simultaneously from the same unequal recombination event. The lower frequency of HNPP compared to CMT1A suggests that HNPP patients have a lower reproductive fitness than CMT1A patients. This result, along with a CMT1A duplication found in an Asian Indian family, demonstrates the broad geographic distribution and high frequency of PMP-22 gene aneuploidy.

  19. [Leber's hereditary optic neuropathy after head trauma: a case report].

    Science.gov (United States)

    Hayashi, Shintaro; Okamoto, Koichi

    2011-10-01

    A previously healthy 34-year-old man sustained multiple skull fractures in a traffic accident. Radiological findings and visual field examination did not detect any abnormality. Shortly after the accident, he noticed blurred vision in both eyes. Six months after the accident, he gradually developed disturbance of visual acuity in the right eye. His best corrected visual acuity (BCVA) was 0.8 OD and 1.2 OS and brain MRI did not show any abnormality, while Humphrey visual field analysis demonstrated right homonymous hemianopsia. Two months after the initial presentation, his BCVA showed 0.1 OD and 0.08 OS. Visual field examination suggested that both right homonymous hemianopsia and left blind spot had become enlarged. Mitochondrial DNA analysis demonstrated G11,778A mutation and a diagnosis of Leber's hereditary optic neuropathy (LHON) was made. A few reports have documented mild acute insult to the head or blunt optic trauma as triggers of optic neuropathy in subjects with LHON. Although, the precise mechanism of LHON following trauma remains unknown, it appears that an acute insult may be sufficient to precipitate neuropathy in the optic nerve already compromised by mitochondrial dysfunction. Asymptomatic carriers should be advised to avoid possible precipitating factors such as head trauma.

  20. Automated Peripheral Neuropathy Assessment Using Optical Imaging and Foot Anthropometry.

    Science.gov (United States)

    Siddiqui, Hafeez-U R; Spruce, Michelle; Alty, Stephen R; Dudley, Sandra

    2015-08-01

    A large proportion of individuals who live with type-2 diabetes suffer from plantar sensory neuropathy. Regular testing and assessment for the condition is required to avoid ulceration or other damage to patient's feet. Currently accepted practice involves a trained clinician testing a patient's feet manually with a hand-held nylon monofilament probe. The procedure is time consuming, labor intensive, requires special training, is prone to error, and repeatability is difficult. With the vast increase in type-2 diabetes, the number of plantar sensory neuropathy sufferers has already grown to such an extent as to make a traditional manual test problematic. This paper presents the first investigation of a novel approach to automatically identify the pressure points on a given patient's foot for the examination of sensory neuropathy via optical image processing incorporating plantar anthropometry. The method automatically selects suitable test points on the plantar surface that correspond to those repeatedly chosen by a trained podiatrist. The proposed system automatically identifies the specific pressure points at different locations, namely the toe (hallux), metatarsal heads and heel (Calcaneum) areas. The approach is generic and has shown 100% reliability on the available database used. The database consists of Chinese, Asian, African, and Caucasian foot images. PMID:26186748

  1. Protection of Trigonelline on Experimental Diabetic Peripheral Neuropathy

    Directory of Open Access Journals (Sweden)

    Ji-Yin Zhou

    2012-01-01

    Full Text Available The mechanisms leading to diabetic peripheral neuropathy are complex and there is no effective drug to treat it. As an active component of several traditional Chinese medicines, trigonelline has beneficial effects on diabetes with hyperlipidemia. The protective effects and the mechanism of trigonelline on diabetic peripheral neuropathy were evaluated in streptozotocin- and high-carbohydrate/high-fat diet-induced diabetic rats. Rats were divided into four groups at the end of week 2: control, diabetes, diabetes + trigonelline (40 mg/kg, and diabetes + sitagliptin (4 mg/kg. After 48-week treatment, technologies of nerve conduction, cold and hot immersion test, transmission electron microscopy, real-time PCR, and Western blotting were applied. Serum glucose, serum insulin, insulin sensitivity index, lipid parameters, body weight, sciatic nerve conduction velocity, nociception, glucagon-like peptide-1 receptor mRNA and protein, total and phosphorylated p38 mitogen-activated protein kinases protein expression, malonaldehyde content, and superoxide dismutase activity were altered in diabetic rats, and were near control levels treated with trigonelline. Slight micropathological changes existed in sciatic nerve of trigonelline-treated diabetic rats. These findings suggest that trigonelline has beneficial effects for diabetic peripheral neuropathy through glucagon-like peptide-1 receptor/p38 mitogen-activated protein kinases signaling pathway, nerve conduction velocity, antioxidant enzyme activity, improving micropathological changes of sciatic nerve and decreasing lipid peroxidation.

  2. Effect of Large Dose Methylcobalamin on Diabetic Peripheral Neuropathy

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    The effects of large dose methylcobalamin injection on diabetic peripheral neuropathy in patients were observed to observe the subjective symptom of diabetic perpheral neuropathy (DPN) patients and detect the motor nerve conduction velocity (MCV) and sense nerve conduction velocity (SCV). Fifteen patients were received large dose methylcobalamin injection for two weeks as treatment group, another eleven patients were received muscular injection VitB1 100mg/ d, VitB12 500ug/ d for two weeks as control group. After 2 weeks treatment the subjective symptoms and signs were significantly improved with a total effective rate of 82.9% in the treatment group however the effective rate only has 52.0% in the control group. The result has obvious difference in statistics nerve MCV in median common peroneal nerve, SCV in median and superficial peroneal nerve were improved significantly in the treatment group and no such changes were observed in the control group. So, large dose methylcobalamin is an effective and safe agent for treatment of diabetic peripheral neuropathy.

  3. Insulin influenced expression of myelin proteins in diabetic peripheral neuropathy.

    Science.gov (United States)

    Rachana, Kuruvanthe S; Manu, Mallahalli S; Advirao, Gopal M

    2016-08-26

    Diabetic peripheral neuropathy (DPN) is one of the downstream complications of diabetes. This complication is caused by the deficiency of insulin action and subsequent hyperglycemia, but the details of their pathogenesis remain unclear. Hence, it is of critical importance to understand how such hormonal variation affects the expression of myelin proteins such as myelin basic protein (MBP) and myelin associated glycoprotein (MAG) in the peripheral nerve. An earlier report from our lab has demonstrated the expression of insulin receptors (IR) in Schwann cells (SCs) of sciatic nerve. To assess the neurotrophic role of insulin in diabetic neuropathy, we studied the expression of these myelin proteins under control, DPN and insulin treated DPN subjects at developmental stages. Further, the expression of these myelin proteins was correlated with the expression of insulin receptor. Expression of myelin proteins was significantly reduced in the diabetic model compared to normal, and upregulated in insulin treated diabetic rats. Similarly, an in vitro study was also carried out in SCs grown at high glucose and insulin treated conditions. The expression pattern of myelin proteins in SCs was comparable to that of in vivo samples. In addition, quantitative study of myelin genes by real time PCR has also showed the significant expression pattern change in the insulin treated and non-treated DPN subjects. Taken together, these results corroborate the critical importance of insulin as a neurotrophic factor in demyelinized neurons in diabetic neuropathy.

  4. Warfarin improves neuropathy in monoclonal gammopathy of undetermined significance.

    Science.gov (United States)

    Henry Gomez, Teny; Holkova, Beata; Noreika, Danielle; Del Fabbro, Egidio

    2016-01-01

    We report a case of a 60-year-old man who was referred to a palliative care clinic with monoclonal gammopathy of undetermined significance (MGUS)-associated neuropathy, responding to a therapeutic trial of warfarin. Electromyography showed distal symmetric sensory axonal neuropathy. The patient reported having had improvement of his neuropathic symptoms while taking warfarin postoperatively for thromboprophylaxis 1 year prior, and recurrence of his symptoms after the warfarin was discontinued. The patient was rechallenged with a trial of warfarin, targeting an international normalised ratio of 1.5-2.0. His pain scores decreased from 5/10 to 3/10 at 1 month and symptom improvement was maintained through 24 months of follow-up. Warfarin had a remarkable impact on our patient's symptoms and quality of life. The mechanisms mediating the symptomatic benefit with warfarin are unclear; however, a placebo effect is unlikely. Further studies may help guide the use of warfarin for MGUS-associated neuropathy. PMID:27317760

  5. Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India

    Science.gov (United States)

    Lepcha, Anjali; Chandran, Reni K.; Alexander, Mathew; Agustine, Ann Mary; Thenmozhi, K.; Balraj, Achamma

    2015-01-01

    Aims: To find out the prevalence and types of neurological abnormalities associated in auditory neuropathy spectrum disorder in a large tertiary referral center. Settings and Design: A prospective clinical study was conducted on all patients diagnosed with auditory neuropathy spectrum disorder in the ear, nose, and throat (ENT) and neurology departments during a 17-month period. Patients with neurological abnormalities on history and examination were further assessed by a neurologist to determine the type of disorder present. Results: The frequency of auditory neuropathy spectrum disorder was 1.12%. Sixty percent were found to have neurological involvement. This included cerebral palsy in children, peripheral neuropathy (PN), spinocerebellar ataxia, hereditary motor-sensory neuropathy, spastic paresis, and ponto-bulbar palsy. Neurological lesions did not present simultaneously with hearing loss in most patients. Sixty-six percent of patients with auditory neuropathy spectrum disorder were born of consanguineous marriages. Conclusions: There is a high prevalence of neurological lesions in auditory neuropathy spectrum disorder which has to be kept in mind while evaluating such patients. Follow-up and counselling regarding the appearance of neuropathies is therefore important in such patients. A hereditary etiology is indicated in a majority of cases of auditory neuropathy spectrum disorder. PMID:26019414

  6. Association between the level of serum vitamin D and peripheral neuropathy in type 2 diabetic patients

    Institute of Scientific and Technical Information of China (English)

    张吉平

    2014-01-01

    Objective To evaluate the relationship between 25-(OH)vitamin D[25-(OH)D]level and peripheral neuropathy in patients with type 2 diabetes mellitus.Methods Eighty patients with type 2 diabetes mellitus were enrolled in this cross-sectional study,including 37 subjects with and 43 without diabetic neuropathy.Anthropometric data was collected and serum levels of 25-(OH)D,Hb A1C,blood lipid,and hepatic and renal functions were determined in all patients.Results Serum 25-(OH)D level was significantly lower in patients with diabetic neuropathy compared to those without neuropathy

  7. The association of vitamin D with inflammatory cytokines in diabetic peripheral neuropathy.

    Science.gov (United States)

    Bilir, Bulent; Tulubas, Feti; Bilir, Betul Ekiz; Atile, Neslihan Soysal; Kara, Sonat Pinar; Yildirim, Tulay; Gumustas, Seyit Ali; Topcu, Birol; Kaymaz, Ozlem; Aydin, Murat

    2016-07-01

    [Purpose] The effects of vitamin D on the circulating levels of IL-17 and IL-13 were investigated in patients with diabetic peripheral neuropathy, patients with diabetes mellitus type 2 without neuropathy, and healthy controls. [Subjects and Methods] A single-blind controlled clinical study was performed, including70 type 2 diabetic patients with or without diabetic peripheral neuropathy and 33 healthy volunteer controls. The 25(OH)D levels were evaluated using ultra-performance liquid chromatography, and IL-17 and IL-13 levels were assessed using enzyme-linked immunosorbent assays. [Results] The 25(OH) vitamin D concentration was lower in diabetic peripheral neuropathy patients than in diabetes mellitus patients without neuropathy and healthy controls. Similarly, 25(OH)D levels were lower in diabetes mellitus patients than healthy controls. IL-17 and IL-13 levels were higher in diabetes mellitus patients than in controls. Additionally, IL-13 levels were higher in diabetic peripheral neuropathy patients than in diabetes mellitus patients without neuropathy. These differences were statistically significant. There was a significant positive correlation between 25(OH)D and IL-13,and a negative correlation between 25(OH)D andIL-17 in the diabetic and diabetic neuropathy groups. [Conclusion] Vitamin D is a potential modifiable risk factor for diabetic peripheral neuropathy and may regulate inflammatory mediators, e.g., IL-17 and IL-13.

  8. No response of pancreatic hormones to hypoglycemia in diabetic autonomic neuropathy

    DEFF Research Database (Denmark)

    Hilsted, J; Madsbad, S; Krarup, T;

    1982-01-01

    The responses of pancreatic hormones (i.e. glucagon, pancreatic polypeptide, and somatostatin) to insulin-induced hypoglycemia were investigated in 18 insulin-dependent diabetics without residual beta-cell function and in 6 normal subjects. Nine of the diabetics had autonomic neuropathy, and 9 had...... no neuropathy. After hypoglycemia, no significant increase in any of the 3 pancreatic hormones was found in the diabetics with autonomic neuropathy, whereas significant increments were found in the diabetics without neuropathy and in the normal subjects. These results suggest that autonomic nervous activity...

  9. Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India

    Directory of Open Access Journals (Sweden)

    Anjali Lepcha

    2015-01-01

    Full Text Available Aims: To find out the prevalence and types of neurological abnormalities associated in auditory neuropathy spectrum disorder in a large tertiary referral center. Settings and Design: A prospective clinical study was conducted on all patients diagnosed with auditory neuropathy spectrum disorder in the ear, nose, and throat (ENT and neurology departments during a 17-month period. Patients with neurological abnormalities on history and examination were further assessed by a neurologist to determine the type of disorder present. Results: The frequency of auditory neuropathy spectrum disorder was 1.12%. Sixty percent were found to have neurological involvement. This included cerebral palsy in children, peripheral neuropathy (PN, spinocerebellar ataxia, hereditary motor-sensory neuropathy, spastic paresis, and ponto-bulbar palsy. Neurological lesions did not present simultaneously with hearing loss in most patients. Sixty-six percent of patients with auditory neuropathy spectrum disorder were born of consanguineous marriages. Conclusions: There is a high prevalence of neurological lesions in auditory neuropathy spectrum disorder which has to be kept in mind while evaluating such patients. Follow-up and counselling regarding the appearance of neuropathies is therefore important in such patients. A hereditary etiology is indicated in a majority of cases of auditory neuropathy spectrum disorder.

  10. Tratamiento conservador en pacientes con retinoblastoma bilateral

    Directory of Open Access Journals (Sweden)

    Juan C. Suárez

    2008-11-01

    Full Text Available OBJETIVO: comparar el tratamiento convencional del retinoblastoma bilateral, usado hasta hace algunos años, consistente en radioterapia o enucleación bilateral, con el tratamiento conservador actual que incluye termoterapia transpupilar (TTT o TTT/quimioterapia al menos en un ojo, en niños con diagnóstico de retinoblastoma bilateral. DISEÑO: estudio retrospectivo descriptivo. MUESTRA: 20 pacientes con diagnóstico de retinoblastoma bilateral que consultaron al Hospital Universitario San Vicente de Paúl, de Medellín, Colombia, entre 1997 y 2007. MÉTODO: se hizo enucleación del ojo con el tumor de mayor tamaño. En el otro ojo se hizo tratamiento con TTT, con el láser diodo (810 nm, spot amplio, solo o combinado con otras terapias. RESULTADOS: se dividió a los pacientes en dos grupos: 16 pacientes (32 ojos en el grupo 1 tratados conservadoramente y 4 pacientes (8 ojos en el grupo 2 con tratamiento convencional. El rango de edad fue de 1-72 meses en el grupo 1 y de 1-12 meses en el grupo 2. El tiempo de seguimiento fue de 7-67 meses para el grupo 1 y de 13-73 meses para el grupo 2. En el grupo 1 se hizo enucleación de 16 ojos (50%, radioterapia externa de uno (3,1%, quimioterapia más termoterapia de 5 (15,6% y quimioterapia más termoterapia más crioterapia de 10 (31,3%. En todos los pacientes se logró preservar al menos un ojo. En el grupo 2, se enuclearon 7 ojos (87,5% y se hizo radioterapia externa más enucleación en un paciente (12.5%. Además, todos los pacientes recibieron quimioterapia. CONCLUSIÓN: la terapia conservadora actual consistente en tratamiento local (termoterapia, crioterapia o braquiterapia y quimiorreducción permite preservar al menos un ojo y en algunos casos de los dos, muchas veces con buena agudeza visual, en niños con retinoblastoma bilateral; se evitan así la enucleación bilateral y la radioterapia externa usada en el tratamiento convencional con todos sus efectos secundarios. La enucleación contin

  11. 影响颈内动脉海绵窦瘘患者发生展神经麻痹的相关因素分析%Risk Factor Analysis of Abducens Nerve Palsy Caused by Carotid Cavernous Fistula

    Institute of Scientific and Technical Information of China (English)

    黄小山; 李志平

    2015-01-01

    目的:探讨颈内动脉海绵窦瘘患者发生展神经麻痹的相关影响因素。方法回顾性分析神经外科收治的127例颈内动脉海绵窦瘘患者的临床资料。结果127例患者中展神经麻痹67例,展神经非麻痹患者60例。单因素分析显示:治疗前症状持续时长、瘘口血流量大、颈内盗血、合并颅底骨折或颅高压、经岩上、下引流,是颈内动脉海绵窦瘘患者发生展神经麻痹影响因素,差异有统计学意义(P<0.05)。多因素Logistic 回归分析显示:治疗前症状持续时长(OR=8.449,P<0.05)、瘘口血流量大(OR=6.862,P<0.05)、合并颅底骨折或颅高压(OR=19.375,P<0.05)、经岩上、下引流(OR=3.838,P<0.05)是导致颈内动脉海绵窦瘘患者发生展神经麻痹的独立危险因素。67例展神经麻痹患者中失访3例,展神经完全恢复59例,未完全恢复5例。恢复时间(82.14±12.23)d,85.84%的患者在6个月内恢复。结论治疗前症状持续时长、瘘口血流量大、合并颅底骨折或颅高压、经岩上、下引流是颈内动脉海绵窦瘘患者发生展神经麻痹重要影响因素。多数患者可在6个月内恢复。%Objective To explore the risk factors of abducens nerve palsy caused by carotid cavernous fistula(CCF).Methods The clinical data of 127 patients with CCF in the Department of Neurosurgery form January 2004 to August 2013 were analyzed retrospectively.The factors include gender, age, etiology, duration of symptoms before treatment, accompanying by skull fracture or cerebral edema, fistula side, blood flow of fistula, number of fistula, with or without steal phenomena and venous drainage, were analyzed with univariate analysis and multi-variate binary Logistic regression analysis.Observe the patient’ s prognosis.Results Totally 127 patients, the number of paralysis patients was 67 and non-paralytic patients was 60.The

  12. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

    Science.gov (United States)

    van Paassen, Barbara W; van der Kooi, Anneke J; van Spaendonck-Zwarts, Karin Y; Verhamme, Camiel; Baas, Frank; de Visser, Marianne

    2014-03-19

    PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal.

  13. Recurrence of bilateral herpes simplex virus keratitis following bimatoprost use

    Directory of Open Access Journals (Sweden)

    Kothari Mihir

    2006-01-01

    Full Text Available A 76-year-old man presented with features of bilateral herpes simplex virus (HSV keratitis. It was found to be recurrence of bilateral HSV keratitis following the use of Bimatoprost eye drops for uncontrolled intraocular pressure in a case of bilateral primary open-angle glaucoma.

  14. Nocturnal seizure and simultaneous bilateral shoulder fracture-dislocation.

    Science.gov (United States)

    Sahbudin, Ilfita; Filer, Andrew

    2016-01-01

    An otherwise fit and well 27-year-old man presented with acute onset unexplained bilateral shoulder pain, and was found to have bilateral shoulder fractures and dislocations on imaging. Although features were atypical, a nocturnal seizure causing the bilateral shoulder fractures was suspected and EEG showed features compatible with epilepsy. PMID:26838296

  15. Nonarteritic Anterior Ischemic Optic Neuropathy and Double Thrombophilic Defect: A New Observation

    Directory of Open Access Journals (Sweden)

    Eleni Papageorgiou

    2012-02-01

    Full Text Available We report the first case of nonarteritic anterior ischemic neuropathy (NAION associated with double thrombophilia: protein S deficiency and prothrombin G20210A mutation. A 58-year-old man is presented including the clinical and laboratory findings, cardiovascular profile and thrombophilia screening. The patient presented with 3/10 vision and an inferior altitudinal defect in the right eye. Funduscopic examination of the right eye revealed a hyperemic optic disk with blurred superior optic disk border and sectoral nerve fiber layer edema. Complete blood count, erythrocyte sedimentation rate and C-reactive protein were normal, suggesting a NAION. A workup of cardiovascular risk factors revealed hyperlipidemia, arterial hypertension and high-risk asymptomatic coronary artery disease. Due to the family history of deep vein thrombosis in the patient’s daughter, a thrombophilia screening was additionally performed. The results revealed a double thrombophilic defect, namely congenital protein S deficiency and heterozygosity for prothrombin G20210A mutation, which were also identified in the patient’s daughter. Anticoagulant warfarin therapy was initiated and the patient underwent a triple bypass surgery. At three-month follow-up, the right optic disk edema had resolved, leaving a pale superior optic nerve head. Visual acuity in the right eye had slightly improved to 4/10; however, the dense inferior altitudinal field defect had remained unchanged. The patient is currently treated with warfarin, atorvastatin, irbesartan and metoprolol. This case suggests that the first line of investigation in all patients with NAION involves assessment of cardiovascular risk factors. However, careful history taking will identify NAION patients who are eligible for additional thrombophilia screening: young patients without vasculopathic risk factors, bilateral or recurrent NAION, idiopathic or recurrent venous thromboembolism (VTE, positive family history of VTE

  16. Bilateral Nocardia Keratitis after Photorefractive Keratectomy

    Directory of Open Access Journals (Sweden)

    Amir Faramarzi

    2012-01-01

    Full Text Available Purpose: To report the clinical, confocal scan, and histopathologic features of Nocardia keratitis in a patient who developed bilateral infection following photorefractive keratectomy (PRK. Case Report: A 23-year-old woman underwent bilateral PRK for low myopia. On postoperative day 3, dense central stromal infiltrates were noticed in both eyes. Empirical antibiotic therapy was initiated which was converted into specific therapy after a definite diagnosis was made based on clinical features and confirmed by confocal scan and histopathologic findings. Clinical and confocal scan features were consistent with the diagnosis of Nocardia keratitis, and topical 2% amikacin eye drops were started. Because of poor response to medical therapy, lamellar keratectomy was performed in both eyes which shortened the treatment course. Histopathologic examination reconfirmed the initial diagnosis. Conclusion: Familiarity with clinical and confocal scan features facilitates early diagnosis of Nocardia keratitis leading to proper management and hence a rapid therapeutic response.

  17. Bilateral Nocardia Keratitis after Photorefractive Keratectomy

    Science.gov (United States)

    Faramarzi, Amir; Feizi, Sepehr; Javadi, Mohammad-Ali; Rezaei Kanavi, Mozhgan; Yazdizadeh, Forouzan; Moein, Hamid-Reza

    2012-01-01

    Purpose To report the clinical, confocal scan, and histopathologic features of nocardia keratitis in a patient who developed bilateral infection following photorefractive keratectomy (PRK). Case Report A 23-year-old woman underwent bilateral PRK for low myopia. On postoperative day 3, dense central stromal infiltrates were noticed in both eyes. Empirical antibiotic therapy was initiated which was converted into specific therapy after a definite diagnosis was made based on clinical features and confirmed by confocal scan and histopathologic findings. Clinical and confocal scan features were consistent with the diagnosis of Nocardia keratitis, and topical 2% amikacin eye drops were started. Because of poor response to medical therapy, lamellar keratectomy was performed in both eyes which shortened the treatment course. Histopathologic examination reconfirmed the initial diagnosis. Conclusion Familiarity with clinical and confocal scan features facilitates early diagnosis of Nocardia keratitis leading to proper management and hence a rapid therapeutic response. PMID:23275825

  18. Simultaneous bilateral patellar tendon rupture without

    Directory of Open Access Journals (Sweden)

    LU Hua-ding

    2012-04-01

    Full Text Available 【Abstract】There is a dearth of case reports de-scribing simultaneous bilateral patellar tendon ruptures in the medical literature. These ruptures are often associated with systemic disorders such as lupus erythematosus or chronic steroid use. The author describes a case of a 24-year-old man who sustained traumatic bilateral patellar ten-don ruptures without any history of systemic disease or steroidal medication. We repaired and reattached the rup-tured tendons to the patella and augmented our procedure with allogeneic tendon followed by wire loop reinforcement. One year after operation, the patient regained a satisfactory range of motion of both knees with good quadriceps strength and no extensor lag. The recurrent microtrauma from a history of intense sports activity and a high body mass index may have played an important role in this trauma event. Key words: Patella; Patellar ligament; Rupture; Ten-don injuries; Knee

  19. Bilateral Psoas Abscess in the Emergency Department

    Directory of Open Access Journals (Sweden)

    Tomich, Eric B

    2009-11-01

    Full Text Available We present the case of a 45-year-old female who presented multiple times to the emergency department with acute low back pain and was subsequently diagnosed with bilateral psoas muscle abscess. Psoas abscess is an uncommon cause of acute low back pain that is associated with high morbidity and mortality. The onset of symptoms is frequently insidious and the clinical presentation vague. Proper diagnosis requires vigilance of the physician to recognize signs in the history and physical examination that are suggestive of a potentially serious spinal condition and initiate further workup. While most patients with acute low back pain have a benign etiology, this case report demonstrates the challenge of diagnosing a patient with bilateral psoas abscess who had few known risk factors and symptoms typical of mechanical low back pain.[West J Emerg Med. 2009;10(4:288-291.

  20. Marfan Syndrome Presenting with Bilateral Retinal Detachment

    OpenAIRE

    Subrata Chakrabarti; Koushik Pan

    2014-01-01

    Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessels. Eye involvement may be in the form of retinal detachment which is a potentially dangerous manifestation for its sight threatening nature .We report a case where a 17 year old male developed sudden blindness due to spontaneous bilateral retinal detachment. Examination revealed features...