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Sample records for hemifacial atrophy case

  1. Progressive hemifacial atrophy

    Directory of Open Access Journals (Sweden)

    Abhijeet Sande

    2013-01-01

    Full Text Available Progressive hemifacial atrophy, also known as Parry-Romberg Syndrome, is an uncommon degenerative and poorly understood condition. It is characterized by a slow and progressive but self-limited atrophy affecting one side of the face. The incidence and the cause of this alteration are unknown. A cerebral disturbance of fat metabolism has been proposed as a primary cause. Possible factors that are involved in the pathogenesis include trauma, viral infections, heredity, endocrine disturbances and auto-immunity. The most common complications that appear in association to this disorder are: trigeminal neuralgia, facial paresthesia, severe headache and epilepsy. Characteristically, the atrophy progresses slowly for several years and, it becomes stable. The objective of this work is, through the presentation of a clinical case, to accomplish a literature review concerning general characteristics, etiology, physiopathology and treatment of progressive hemifacial atrophy.

  2. Progressive hemifacial atrophy with ciliary body atrophy and ocular hypotony

    Directory of Open Access Journals (Sweden)

    T Ashwini Kini

    2015-01-01

    Full Text Available Progressive hemifacial atrophy (PHA is a disease of unknown etiology affecting one-half of the face. Ocular involvement is uncommon. Atrophy of iris is rare, with only a few cases of partial atrophy being reported in the literature. We report a case of total atrophy of iris and ciliary body with associated ocular hypotony in a 16-year-old girl with PHA. We believe this is the first reported case of complete atrophy of iris and ciliary body in PHA. Ocular hypotony in PHA was thought to be due to intra-ocular inflammation. However in our case it appears to be secondary to severe atrophy of the ciliary body.

  3. Mirror movements in progressive hemifacial atrophy

    Science.gov (United States)

    Verma, Rajesh; Dixit, Puneet Kumar; Lalla, Rakesh; Singh, Babita

    2015-01-01

    Mirror movements are simultaneous, involuntary, identical movements occurring during contralateral voluntary movements. These movements are considered as soft neurologic signs seen uncommonly in clinical practice. The mirror movements are described in various neurological disorders which include parkinsonism, cranio veretebral junction anamolies, and hemiplegic cerebral palsy. These movements are intriguing and can pose significant disability. However, no such observation regarding mirror movements in progressive hemifacial atrophy have been reported previously. We are reporting a teenage girl suffering from progressive hemifacial atrophy and epilepsy with demonstrable mirror movements in hand. PMID:26019431

  4. Mirror movements in progressive hemifacial atrophy

    Directory of Open Access Journals (Sweden)

    Rajesh Verma

    2015-01-01

    Full Text Available Mirror movements are simultaneous, involuntary, identical movements occurring during contralateral voluntary movements. These movements are considered as soft neurologic signs seen uncommonly in clinical practice. The mirror movements are described in various neurological disorders which include parkinsonism, cranio veretebral junction anamolies, and hemiplegic cerebral palsy. These movements are intriguing and can pose significant disability. However, no such observation regarding mirror movements in progressive hemifacial atrophy have been reported previously. We are reporting a teenage girl suffering from progressive hemifacial atrophy and epilepsy with demonstrable mirror movements in hand.

  5. Chronologic Presentation of a Severe Case of Progressive Hemifacial Atrophy (Parry-Romberg Syndrome with the Loss of an Eye

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    Mesut Kaya

    2014-01-01

    Full Text Available Progressive hemifacial atrophy, also known as Parry-Romberg syndrome, is a slowly advancing degenerative disease that mostly affects the cutaneous, subcutaneous fatty tissue, muscle tissue, and bone structures on one side of the face. We describe the chronological progression of this very rare syndrome from early childhood until adulthood in a patient who developed severe atrophy and lost one eye. We also discuss the aetiology and pathophysiology of this syndrome.

  6. Hemifacial Microsomia - A Case Report

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    Sushma Rao

    2005-01-01

    Clinically one sees facial asymmetry, macrostomia, micrognathia, and microtia to anotia of the external ear, preauricular skin tags, and Epibulbar tumors in the eyes. One such case of Hemifacial Microsomia seen in a boyaged 9 years, who complained of facial asymmetry on the right side of the face since birth and an extra auricle on the same side, is reported here.

  7. Hemifacial microsomia: A case report

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    Kapur R

    2008-05-01

    Full Text Available Hemifacial microsomia is a congenital malformation in which there is a deficiency in the amount of hard and soft tissue on one side of the face. It is primarily a syndrome of the first branchial arch, involving underdevelopment of the temporomandibular joint, mandibular ramus, masticatory muscles and the ear. The affected ear may have an external soft-tissue malformation in addition to being lower set than on the contra lateral side. Hearing loss may result from underdevelopment of the osseous components of the auditory system and a diminished or absent external auditory meatus. Occasionally, second branchial arch defects involving the facial nerve and facial muscles coexist with Hemifacial microsomia. Radiographic examination in case of Hemifacial microsomia is of limited value because of superimposition of normal and abnormal bony structures. The skeletal and soft-tissue findings of a patient with Hemifacial microsomia who underwent three-dimensional computerized tomography is presented here to improve our knowledge and diagnostic skill of this uncommon entity.

  8. Clinical evaluation of techniques used in the surgical treatment of progressive hemifacial atrophy

    NARCIS (Netherlands)

    R. Roddi (Roberto); E. Riggio (Egidio); P.M. Gilbert (Philip); S.E.R. Hovius (Steven); J. Michiel Vaandrager (J.); J.C.H.M. van der Meulen (Jacques)

    1994-01-01

    textabstractWe critically review 13 patients with progressive hemifacial atrophy treated with three basic surgical procedures (free flap transplantation, alloplastic implants, micro-fat injections ‘lipofilling’) and further ancillary techniques. In spite of the satisfactory results achieved with the

  9. Parry-Romberg syndrome (progressive hemifacial atrophy) with spasmodic dysphonia--a rare association.

    Science.gov (United States)

    Mugundhan, K; Selvakumar, C J; Gunasekaran, K; Thiruvarutchelvan, K; Sivakumar, S; Anguraj, M; Arun, S

    2014-04-01

    Parry-Romberg syndrome is a rare clinical entity characterised by progressive hemifacial atrophy with appearance of 'saber'. Various neurological and otorhinolaryngological disorders are associated with this syndrome. The association of Parry -Romberg syndrome with Spasmodic dysphonia has rarely been reported. A 37 year old female presented with progressive atrophy of tissues of left side of face for 10 years and change in voice for 1 year. On examination, wasting and atrophy of tissues including tongue was noted on left side of the face. ENT examination revealed adductor spasmodic dysphonia. We report the rare association of Parry -Romberg syndrome with spasmodic dysphonia.

  10. Espasmo hemifacial familiar: relato de dois casos Familial hemifacial spasm: report of two cases

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    EGBERTO REIS BARBOSA

    1998-03-01

    Full Text Available Os autores relatam os achados clínicos e angiográficos de dois casos de espasmo hemifacial familiar. Esta é a quinta descrição sobre esse tema na literatura e apresenta mãe e filha com idades de 76 e 51 anos respectivamente, nas quais o lado esquerdo foi o acometido. Exames de angiorressonância realizados nas pacientes revelaram dolicobasilar com origem lateralizada à esquerda para ambos os casos. Também demonstraram artéria cerebelar póstero-inferior muito desenvolvida e irregularidades murais nas artérias vertebrais e basilar sugestivas de arteriosclerose na mãe e vasos intracranianos levemente alongados na filha. Dados de revisão da literatura e sobre a etiologia do espasmo hemifacial são enfocados.The authors report the clinical and angiographical findings of two cases of familial hemifacial spasm. This is the fifth description in the literature and presents mother and daughter at the ages of 76 and 51 respectively, in whom the left side was affected. They underwent exams of angioresonance that showed dolichobasilar with left side origin in both patients. The exams also demonstrated postero-inferior cerebellar artery very developed and irregularities in the walls of the vertebral and basilar arteries suggestive of arteriosclerosis in the mother and slightly elongated intracranial vessels in the daughter. Literature review and etiology data of the hemifacial spasm are focused.

  11. Espasmo hemifacial bilateral: relato de caso Bilateral hemifacial spasm: case report

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    Flavia Costa Nunes Machado

    2003-03-01

    Full Text Available Espasmo hemifacial bilateral é um distúrbio de movimento raro geralmente associado à compressão vascular dos nervos faciais. Caracteriza-se clinicamente por contrações assimétricas e assíncronas da musculatura facial e por longa latência entre a instalação dos movimentos em cada hemiface. Deve ser diferenciado de outras condições como blefaroespasmo, miocimia facial, tiques faciais, distonia oromandibular e espasmo hemimastigatório. O tratamento sintomático mais eficaz e menos invasivo consiste em aplicações de toxina botulínica mas abordagem cirúrgica de descompressão microvascular é outra alternativa terapêutica. Relatamos o caso de homem de 70 anos com espasmo hemifacial bilateral e fazemos uma breve revisão da literatura.Bilateral hemifacial spasm (BHS is a rare focal movement disorder often associated with vascular compression of both facial nerves. The contractions are usually asymmetric and asynchronous. Typically, one side is affected first and there is a long but variable interval for the symptoms on the other side to occur. BHS must be differentiated from other conditions including blefarospasm, facial myokymia, facial tics, oromandibular dystonia, and hemimasticatory spasm. The most successful and non-invasive symtomatic treatment is botulinum toxin injections but microvascular decompression surgery is another therapeutic option. We report the case of a 70 years old man with bilateral hemifacial spasms and present a brief review of the literature.

  12. Hemifacial spasm due to vertebrobasilar dolichoectasia: a case report

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    Mustafa AbdelHamid, MD

    2015-12-01

    Full Text Available Hemifacial spasm (HFS happens because of vascular compression of the facial nerve at the root exit zone. Vertebrobasilar dolichoectasia (VBD is a very rare cause of HFS. VBD is diagnosed by computed tomography angiography and magnetic resonance imaging. Here, we report a case of 65-year-old female patient with HFS due to VBD. We discuss the complications and the treatment options for the case.

  13. Decompression of the facial nerve in cases of hemifacial spasm

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    Karsten Kettel

    1954-12-01

    Full Text Available Among 11 patients a complete cure was obtained in one case, a fair result in 4 cases, while in 6 cases the effect of the operation has only been temporary and full recurrence has taken place. Even if decompression has thus resulted in a few recoveries and improvements, the results in the majority of cases have been disappointing. Everything points to hemifacial spasm being due to a disorder of the lower motor neuron. Intracranial lesions in the vicinity of the facial nerve are known to have resulted in irritation and spasm. It may be perfectly true that the majority of cases of hemifacial spasm are due to a lesion, the nature of which may vary, in the Fallopian canal near the stylomastoid foramen, not least the postparalytic following Bell's palsy. But the disappointing results of decompression seems to indicate that at the time of operation irreparable damage to the nerve has in the majority of cases been already done. Consequently I gave up decompression in cases of hemifacial spasm some years ago. Good results from injections of alcohol into the nerve have been reported13 but I prefer selective sections of the branches to the muscles involved as described by German and Greenwood8.

  14. Hemifacial Microsomia

    African Journals Online (AJOL)

    GB

    2017-01-01

    Jan 1, 2017 ... ear and, occasionally, defects in facial nerve and muscles. ... microsomia from the literature and adds one new case to enhance our .... facial expressions on the affected side has been ... Hemifacial Microsomia–Review of.

  15. A Rare Case of Hemifacial Flushing and Hyperhydrosis: Harlequin Syndrome

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    Selma Korkmaz

    2015-09-01

    Full Text Available Harlequin syndrome (HS is a rare disorder, characterized by hemifacial flushing and sweating. This condition is induced by exercise, heat and emotional factors. There are sudomotor and vasomotor deficits in the cervical sympathetic chain. The syndrome is usually benign and does not require treatment. Most of the HS cases are primary in nature and no underlying cause can be identified, but may be associated with a secondary cause such as organic lesion. Here, we diagnosed idiopathic HS in a 20-year-old female who presented with increased facial flushing and sweating in the left half of the face which were mainly induced by exercise and emotional factors and it was reported together with literature.

  16. Espasmo hemifacial bilateral: relato de caso Bilateral hemifacial spasm: case report

    OpenAIRE

    Flavia Costa Nunes Machado; Felipe Fregni; Cynthia Resende Campos; João Carlos Papaterra Limongi

    2003-01-01

    Espasmo hemifacial bilateral é um distúrbio de movimento raro geralmente associado à compressão vascular dos nervos faciais. Caracteriza-se clinicamente por contrações assimétricas e assíncronas da musculatura facial e por longa latência entre a instalação dos movimentos em cada hemiface. Deve ser diferenciado de outras condições como blefaroespasmo, miocimia facial, tiques faciais, distonia oromandibular e espasmo hemimastigatório. O tratamento sintomático mais eficaz e menos invasivo consis...

  17. Tratamento cirúrgico do espasmo hemifacial: considerações sobre 11 casos Surgical treatment of hemifacial spasm: considerations about 11 cases

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    Pedro M. Sampaio

    1975-03-01

    Full Text Available São feitas algumas considerações sobre a etiologia e tratamento do espasmo hemifacial, e apresentados os resultados cirúrgicos em 11 casos. Houve remissão completa em 9, e parcial em dois casos. Observou-se paresia facial permanente em 3 pacientes.Some considerations about the etiopathology and treatment of the hemifacial spasm are made and the surgical results of 11 cases reported: nine patients were completely relieved of the spasms. The relief was partial in two cases. A facial permanent paresis was observed in three cases.

  18. Gingival enlargement in partial hemifacial hyperplasia

    OpenAIRE

    Jagtap, Rasika Ravindra; Deshpande, Gaurav Shekhar

    2014-01-01

    Hemifacial hypertrophy is a rare developmental disorder, characterized by unilateral enlargement of facial tissues. The hemifacial hyperplasia is classified as true hemifacial hypertrophy and partial hemifacial hypertrophy. It is unilateral enlargement of viscerocranial condition in which not all structures are enlarged. We present a rare case of gingival enlargement in partial hemifacial hyperplasia highlighting the clinical and radiological findings with the corrective treatment offered for...

  19. Prosthetic rehabilitation of an orbital defect for a patient with hemifacial atrophy

    Science.gov (United States)

    Shetty, Sanath; Mohammad, Fahad; Shetty, Rajesh; Shenoy, Kamalakanth

    2016-01-01

    Removal of an eye may be indicated in cases of congenital abnormality, severe trauma, or disease such as an infection, tumor, or malignancy. The disfigurement associated with a loss of an eye is often accompanied with physical problems, psychological trauma, and a poor quality of life. A prosthetic replacement is the treatment of choice to return the individual to his normal vocation by producing an acceptable and life-like appearance. This article describes prosthetic rehabilitation of a 19-year-old male suffering from facial hemiatrophy with the loss of his left eye due to retinoblastoma when he was 2-year-old using medically graded silicone material. The technique used is simple, cost effective, and easy way for fabrication and rehabilitation of an orbital defect using silicone prosthesis where retention is achieved by a combination of silicone adhesives and tapes, and to a very small extent by bony and soft tissue undercut, hence providing better esthetic and psychological outcome. The acrylic part of the prosthesis was adhered to the socket with the help of a two-way silicon adhesive tape. Since the patient had lost his eye when he was 2-year-old, the development of eye and periorbital tissue on the defect side lead to hemiatrophy; in our approach, we have attempted to build the prosthesis in par with the normal side so that the fullness on the defect side was restored to that of the contralateral side. The fabricated facial prosthesis was durable, esthetic, and had good retention. PMID:27134435

  20. Complications of microvascular decompression in hemifacial spasm treatment Retrospective analysis of 156 cases

    Institute of Scientific and Technical Information of China (English)

    Yongfeng Sun; Guanghui Dai; Jun Yuan; Weidong Zhai; Jianwei Zhong; Tao Wang

    2008-01-01

    BACKGROUND: Microvascular decompression has become a well-accepted, safe method in the treatment of hemifacial spasms. However, postoperative complications exist and influence the prognosis of the disease.OBJECTIVE: This study aimed to analyze, by case review, the characteristics and regularity of microvascular decompression complications in the treatment of hemifacial spasm. DESIGN: Retrospective analysis.SETTING: Beijing General Group Hospital of the Chinese People's Armed Police Forces.PARTICIPANTS: A total of 156 patients with hemifacial spasm were admitted to the Department of Neurosurgery, Beijing General Group Hospital of the Chinese People's Armed Police Forces from June 2004 to June 2006 and recruited for this study. The patients, 57 males and 99 females, averaged 46 years of age (range 17-68-years old). All suffered from facial innervated muscular paroxysmal and recurrent contraction, which could not be controlled by consciousness. Electromyogram demonstrated waves of fibrillation and fasciculation. Prior to admission, all patients had received other treatments. Written informed consents for treatment were obtained from all patients. This protocol was approved by the Hospital’s Ethics Committee. METHODS: After anesthesia, a cranial bone pore was drilled below the connection of the lateral sinus and sigmoid sinus. Dura mater was dissected at the "⊥" shape and held in the air. Under microscopy, the flocculus cerebelli was lifted slightly up for convenient observation of the cerebellopontine angle. The mucous membrane was sharply separated. Corresponding vessels were identified at the root of the facial nerves and subsequently liberated and disassociated from the root exit zone. Suitably sized Teflon cotton was placed between the corresponding vessels and brain stem.MAIN OUTCOME MEASURES: Complications of microvascular decompression.RESULTS: All 156 patients participated in the final analysis. ① Postoperatively, 66 (42%) patients presented with obvious

  1. The Clinical Observation on 10 cases of patients with Hemifacial Spasm Treated by Soyeom Pharmacupuncture at G20(Pungji

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    Jin Heo

    2010-06-01

    Full Text Available Objectives : The main purpose of this research is to evaluate the effect of treatment with Soyeom Pharmacupuncture at G20(Punji for ten patients with hemifacial spasm. Methods : We have treated them with acupuncture treatment and Soyeom Pharmacupuncture at G20(Pungji, and evaluated the effect by Scott`s scale. Results : After treatment, the grades of spasm intensity classified by Scott`s description were improved in 9 cases. Conclusion : This data suggested that Soyeom Pharmacupuncture at G20(Pungji for hemifacial spasm was effective and will be attempted to the patients with it.

  2. [Hemifacial spasm].

    Science.gov (United States)

    Krystkowiak, P

    2009-05-01

    Hemifacial spasm is one of the two most common craniofacial movement disorders (blepharospasm is the second one). It is characterised by unilateral involuntary contractions of muscles involved in facial expression that are innervated by the facial nerve. Most of the time, hemifacial spasm is a peripherally-induced movement disorder caused by vascular compression of the facial nerve near its origin from the brainstem. Although it is a benign condition, it can cause significant cosmetic and functional disability. It is a chronic disease and spontaneous recovery is very rare. The two treatments that are really efficient and routinely available are microvascular decompression and botulinum toxin muscular injections.

  3. Vagoglossopharyngeal Neuralgia Occurred Concomitantly with Ipsilateral Hemifacial Spasm and Versive Seizure-Like Movement: A First Case Report.

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    Thiarawat, Peeraphong; Wangtheraprasert, Apirath; Jitprapaikulsan, Jiraporn

    2016-01-01

    Vagoglossopharyngeal neuralgia (VGPN) is a very rare condition. VGPN with convulsive like attack is even rarer All of the cases had their head turned to the opposite side of facial pain. Hemifacial spasm occurring concurrently with VGPN has never been reported. Herein, we present the first case of VGPN that had ipsilateral hemifacial spasm and versive seizure-like movement to the same side of facial pain. We reported a 71-year-old man presenting with multiple episodes of intermittent sharp shooting pain arising on the right middle neck, followed by hemifacial spasm on right face. Then the patient became syncope while his head and gaze turned to the same side of the painful neck. Electrocardiography showed sinus arrest. Interictal Electroencephalography was normal. This patient initially responded to pregabalin for two weeks, then the symptoms became worse. Microvascular decompression and carbamazepine resulted in the complete remission of all symptoms after six months of follow-up. We could not explain the pathophysiology of unilateral versive seizure like movement.

  4. Case of Rapid Progression of Hemiatrophy on the Face: A New Clinical Entity?

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    Hisashi Nomura

    2015-01-01

    Full Text Available A lot of diseases, including lupus profundus, morphea, lipodystrophy, and Parry-Romberg syndrome, may manifest progressive hemifacial atrophy. These diseases usually progress slowly and rapid progression of atrophy is extremely rare. We report a case of elderly-onset rapid progression of hemifacial atrophy only in three weeks. Our case did not meet variable differential diagnoses. We discuss the clinical character of the patient against the past of literature and suppose it may be a new clinical entity.

  5. Facial Weakness, Otalgia, and Hemifacial Spasm: A Novel Neurological Syndrome in a Case-Series of 3 Patients With Rheumatic Disease.

    Science.gov (United States)

    Birnbaum, Julius

    2015-10-01

    Bell palsy occurs in different rheumatic diseases, causes hemifacial weakness, and targets the motor branch of the 7th cranial nerve. Severe, persistent, and refractory otalgia having features of neuropathic pain (ie, burning and allodynic) does not characteristically occur with Bell palsy. Whereas aberrant regeneration of the 7th cranial nerve occurring after a Bell palsy may lead to a variety of clinical findings, hemifacial spasm only rarely occurs. We identified in 3 rheumatic disease patients (2 with Sjögren syndrome, 1 with rheumatoid arthritis) a previously unreported neurological syndrome of facial weakness, otalgia with neuropathic pain features, and hemifacial spasm. We characterized symptoms, examination findings, and response to therapy. All 3 patients experienced vertigo, as well as severe otalgia which persisted after mild facial weakness had completely resolved within 1 to 4 weeks. The allodynic nature of otalgia was striking. Two patients were rendered homebound, as even the barest graze of outdoor breezes caused intolerable ear pain. Patients developed hemifacial spasm either at the time of or within 3 months of facial weakness. Two patients had a polyphasic course, with recurrent episodes of facial weakness and increased otalgia. In all cases, otalgia and hemifacial spasm were unresponsive to neuropathic pain regimens, but responded in 1 case to intravenous immunoglobulin therapy. No patients had vesicles or varicella zoster virus in spinal-fluid studies. We have defined a novel neurological syndrome in 3 rheumatic disease patients, characterized by facial weakness, otalgia, and hemifacial spasm. As described in infectious disorders, the combination of otalgia, facial weakness, and 8th cranial nerve deficits suggests damage to the geniculate ganglia (ie, the sensory ganglia of the 7th cranial nerve), with contiguous involvement of other cranial nerves causing facial weakness and vertigo. However, the relapsing nature and association with

  6. Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association Espasmo hemifacial em paciente com neurofibromatose e malformação de Arnold-Chiari: uma associação rara

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    Andre Carvalho Felício

    2007-09-01

    Full Text Available BACKGROUND: The association of hemifacial spasm (HFS, Chiari type I malformation (CIM and neurofibromatosis type 1 (NF1 has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects. CONCLUSION:Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.INTRODUÇÃO: A associação entre espasmo hemifacial (EHF, malformação de Chiari tipo I (MCI e neurofibromatose tipo I (NFI ainda não foi descrita. RELATO DO CASO: Relatamos o caso de mulher com 31 anos com NFI que desenvolveu EHF à direita. Na ressonância magnética (RM foi observada MCI sem seringomielia associada. A paciente foi tratada com sucesso com toxina botulínica tipo A por 5 anos sem efeitos colaterais. CONCLUSÃO: Ressaltamos as características clínicas do EHF, MCI e NFI assim como uma possível relação entre elas. Além disto, discutimos também estratégias terapêuticas.

  7. Lipomatosis: a diverse form of hemifacial hyperplasia

    OpenAIRE

    Arora, Preeti Chawla; Umarji, Hemant R.; Arora, Aman; Ramaswami, Easwaran

    2012-01-01

    A case of hemifacial hyperplasia that presented with muscular, skeletal, and dental hyperplasia along with lipomatous infiltration was described. Advanced imaging was useful in identifying the lipomatous infiltration present in the lesion, which raises the possibility of lipomatosis having a diverse presentation in hemifacial hyperplasia. As there was a scarcity of related literature in the field of dentomaxillofacial radiology, this report would make us familiar with its computed tomographic...

  8. Lipomatosis: a diverse form of hemifacial hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Arora, Preeti Chawla; Umarji, Hemant R. [Dept. of Oral Medicine, Diagnosis and Radiology, Government Dental College and Hospital, Mumbai (India); Arora, Aman [Dept. of Prosthodontics, Sri Guru Ram Das Institute of Dental Sciences and Research, Amritsar (India); Ramaswami, Easwaran [Oral Medicine, Diagnosis and Radiology, Dr. D.Y. Patil Dental College and Hospital, Navi Mumbai (India)

    2012-09-15

    A case of hemifacial hyperplasia that presented with muscular, skeletal, and dental hyperplasia along with lipomatous infiltration was described. Advanced imaging was useful in identifying the lipomatous infiltration present in the lesion, which raises the possibility of lipomatosis having a diverse presentation in hemifacial hyperplasia. As there was a scarcity of related literature in the field of dentomaxillofacial radiology, this report would make us familiar with its computed tomographic and magnetic resonance image findings.

  9. Congenital hemifacial hyperplasia

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    S A Deshingkar

    2011-01-01

    Full Text Available Congenital hemifacial hyperplasia (CHH is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge.

  10. Congenital segmental spinal muscular atrophy: a case report.

    Science.gov (United States)

    Savaş, Tülin; Erol, Ilknur; Özkale, Yasemin; Saygi, Semra

    2015-03-01

    Spinal muscular atrophies are genetic disorders in which anterior horn cells in the spinal cord and motor nuclei of the brainstem are progressively lost. We present a patient with arthrogryposis due to congenital spinal muscular atrophy predominantly affecting the upper limbs. Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. Localized forms of neurogenic arthrogryposis have been divided into cervical and caudal forms. Our case is similar to the cases described by Hageman et al (J Neurol Neurosurg Psychiatry 1993;56:365-368): severe symmetric lower motor neuron deficit in the upper extremities at the time of birth, no history of injury to the cervical spinal cord or the brachial plexus during delivery, and severe muscle wasting suggesting chronic denervation in utero. Because there was improvement of our patient's situation, her disease was also possibly nonprogressive and sporadic. To our knowledge, this is the first reported case of a Turkish patient with congenital cervical spinal muscular atrophy. Congenital cervical spinal muscular atrophy affecting predominantly the upper limbs is a relatively rare form of motor neuron disease and should be considered in the differential diagnosis of infants with congenital contractures and severe muscle weakness by wasting mainly confined to the upper limbs.

  11. Hemifacial microsomia: From gestation to childhood

    OpenAIRE

    Werler, Martha M.; Starr, Jacqueline R.; Cloonan, Yona K.; Speltz, Matthew L.

    2009-01-01

    Hemifacial microsomia (HFM) is a variable, complex malformation involving asymmetric hypoplasia of the face and ear. Little is known about risk factors for or consequences of HFM. Here we describe three studies that have been or are currently being conducted to further our understanding of this malformation. The first, completed, study examined whether HFM risk is related to maternal exposures that may affect blood flow. In that case-control study, interview data from 230 mothers of cases and...

  12. Mirror movements in progressive hemifacial atrophy

    OpenAIRE

    2015-01-01

    Mirror movements are simultaneous, involuntary, identical movements occurring during contralateral voluntary movements. These movements are considered as soft neurologic signs seen uncommonly in clinical practice. The mirror movements are described in various neurological disorders which include parkinsonism, cranio veretebral junction anamolies, and hemiplegic cerebral palsy. These movements are intriguing and can pose significant disability. However, no such observation regarding mirror mov...

  13. The many faces of hemifacial spasm: differential diagnosis of unilateral facial spasms.

    Science.gov (United States)

    Yaltho, Toby C; Jankovic, Joseph

    2011-08-01

    Hemifacial spasm is defined as unilateral, involuntary, irregular clonic or tonic movement of muscles innervated by the seventh cranial nerve. Most frequently attributed to vascular loop compression at the root exit zone of the facial nerve, there are many other etiologies of unilateral facial movements that must be considered in the differential diagnosis of hemifacial spasm. The primary purpose of this review is to draw attention to the marked heterogeneity of unilateral facial spasms and to focus on clinical characteristics of mimickers of hemifacial spasm and on atypical presentations of nonvascular cases. In addition to a comprehensive review of the literature on hemifacial spasm, medical records and videos of consecutive patients referred to the Movement Disorders Clinic at Baylor College of Medicine for hemifacial spasm between 2000 and 2010 were reviewed, and videos of illustrative cases were edited. Among 215 patients referred for evaluation of hemifacial spasm, 133 (62%) were classified as primary or idiopathic hemifacial spasm (presumably caused by vascular compression of the ipsilateral facial nerve), and 4 (2%) had hereditary hemifacial spasm. Secondary causes were found in 40 patients (19%) and included Bell's palsy (n=23, 11%), facial nerve injury (n=13, 6%), demyelination (n=2), and brain vascular insults (n=2). There were an additional 38 patients (18%) with hemifacial spasm mimickers classified as psychogenic, tics, dystonia, myoclonus, and hemimasticatory spasm. We concluded that although most cases of hemifacial spasm are idiopathic and probably caused by vascular compression of the facial nerve, other etiologies should be considered in the differential diagnosis, particularly if there are atypical features.

  14. Advances in microvascular decompression for hemifacial spasm

    Institute of Scientific and Technical Information of China (English)

    Zhiqiang Cui; Zhipei Ling

    2015-01-01

    Primary hemifacial spasm (HFS) is a disorder that causes frequent involuntary contractions in the muscles on one side of the face, due to a blood vessel compressing the nerve at its root exit zone (REZ) from the brainstem. Numerous prospective and retrospective case series have confirmed the efficacy of microvascular decompression (MVD) of the facial nerve in patients with HFS. However, while MVD is effective, there are still significant postoperative complications. In this paper, recent technological advances related to MVD (such as lateral spread response, brainstem auditory evokes potential, three dimensional time of flight magnetic resonance angiography, intraoperative neuroendoscopy) are reviewed for the purposes of improving MVD treatment efficacy and reducing postoperative complications.

  15. A comparison of the oblique sagittal view obtained by magnetic resonance imaging and the intraoperative findings of vascular compression in cases of trigeminal neuralgia and hemifacial spasm

    Energy Technology Data Exchange (ETDEWEB)

    Nagaseki, Yoshishige; Horikoshi, Tohru; Omata, Tomohiro; Ueno, Takehiko; Uchida, Mikito; Nukui, Hideaki (Yamanashi Medical Coll., Tamaho (Japan)); Sasaki, Hideo; Tsuji, Reizou

    1992-06-01

    We show how neurosurgical planning can benefit from the better visualization of the precise vascular compression of the nerves provided by the oblique sagittal and gradient-echo method (OS-GR image) using magnetic resonance images (MRI) and by comparing these results with the findings of microvascular decompression. The scans of 5 patients with trigeminal neuralgia (TN) and 18 with hemifacial spasm (HFS) were analysed for the presence and appearance of the vascular compression of the nerves; all these 23 patients were operated on. Imaging sequences consisted of an OS-GR image (TR/TE: 200/20, 3-mm-thick slice) cut along each nerve shown by the axial view, which was scanned at the angle of 105 degrees taken between the dorsal line of the brain stem and the line corresponding to the pontmedullary junction. The rate of correspondence between the OS-GR images and the intraoperative findings was 80% in the TN's and 89% in the HFS's. In all these OS-GR images, the vascular compressions of the REZ of the trigeminal or facial nerve were well visualized as curvilinear high-intensity lines and/or spots. Furthermore, the relationship between the vascular compressions and nerves could be foreseen preoperatively in 40% of the TN's and in 55.6% of the HFS's. It is concluded that OS-GR images obtained by means of MRI may serve as useful planning aids prior to microvascular decompression for cases of TN and HFS because of the corresponding operative view along the approach. (author).

  16. A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy

    Energy Technology Data Exchange (ETDEWEB)

    Nakagawa, N.; Katayama, T.; Makita, Y.; Kuroda, K.; Aizawa, H.; Kikuchi, K. [First Dept. of Internal Medicine, Asahikawa Medical Coll. (Japan)

    1999-07-01

    Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant, slowly progressive cerebellar ataxia without multisystem involvement. We report a 57-year-old woman with genetically confirmed SCA6 who showed clinical features of olivopontocerebellar atrophy. Conventional T2-weighted and FLAIR MRI demonstrated high signal in the middle cerebellar peduncles, in addition to mild atrophy of the pons and cerebellum. (orig.)

  17. Clinical features of adult spinal muscular atrophy:46 cases

    Institute of Scientific and Technical Information of China (English)

    Xiaojun He; Ping Zhang; Guanghui Chen

    2006-01-01

    BACKGROUND: Spinal muscular atrophy (SMA) is a kind of degenerative disease of nervous system. There are 4 types in clinic, especially types Ⅰ, Ⅱ and Ⅲ are common, and the researches on those 3 types are relative mature. Type Ⅳ is a kind of adult spinal muscular atrophy (ASMA), which has low incidence rate and is often misdiagnosed as amyotrophic lateral sclerosis, muscular dystrophy, cervical syndrome, or others.OBJECTIVE: To observe the clinical features of 46 ASMA patients and analyze the relationship between course and activity of daily living.DESIGN: Case analysis.SETTING: Departments of Neurology of the 81 Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA.PARTICIPANTS: A total of 46 ASMA patients were selected from the Departments of Neurology of the 81Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA between April 1998 and January 2002. All patients were consentient. Among 46 cases, there were 37 males and 9 females with the mean age of 42 years. The patients' courses in all ranged from 6 months to 23 years, concretely, courses of 37 cases were less than or equal to 5 years, and those of 9 cases were more than or equal to 6 years.METHODS : ① All the 46 ASMA patients were asked to check blood sedimentation, anti O, serum creatinine,creatine, blood creatine phosphokinase (CPK) and muscular biopsy as early as possible. ② X-ray was used to measure plain film of cervical vertebra borderline film of cranium and neck at proximal end of upper limb of 25 cases and plain film of abdominal vertebra at proximal end of lower limb of 17 cases.③ Cerebrospinal fluid of lumbar puncture was checked on 42 cases, for routine examination, biochemical examination, and immunoglobulin examination. Electromyogram (EMG) was also examined to 42 cases. ④ Barthel index

  18. Presurgical evaluation of hemifacial spasm and spasmodic torticollis caused by a neurovascular conflict from AICA with 3T MRI integrated by 3D drive and 3D TOF image fusion: A case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Concetta Alafaci

    2014-01-01

    Full Text Available Background: Hemifacial spasm (HS and spasmodic torticollis (ST are well-known disorders that are caused by a neurovascular conflict. HS is characterized by irregular, involuntary muscle contractions on one side of the face due to spasms of orbicularis oris and orbicularis oculi muscles, and is usually caused by vascular compression of the VII cranial nerve. ST is an extremely painful chronic movement disorder causing the neck to involuntary turn to the side, upward and/or downward. HS is usually idiopathic but it is rarely caused by a neurovascular conflict with the XI cranial nerve. Case Description: We present a case of a 36-year-old woman with a 2-year history of left hemifacial spasm and spasmodic torticollis. Pre-surgical magnetic resonance imaging MRI examination was performed with 3TMRI integrated by 3Ddrive and 3DTOF image fusion. Surgery was performed through a left suboccipital retrosigmoid craniectomy. The intraoperative findings documented a transfixing artery penetrating the facial nerve and a dominant left anteroinferior cerebellar artery (AICA in contact with the anterior surface of the pons and lower cranial nerves. Microvascular decompression (MVD was performed. Postoperative course showed the regression of her symptoms. Conclusions : Transfixing arteries are rarely reported as a cause of neurovascular conflicts. The authors review the literature concerning multiple neurovascular conflicts.

  19. [A case of spinal muscular atrophy type 0 in Japan].

    Science.gov (United States)

    Okamoto, Kentaro; Saito, Kayoko; Sato, Takatoshi; Ishigaki, Keiko; Funatsuka, Makoto; Osawa, Makiko

    2012-09-01

    The patient was a 2-month-old female infant born at 41 weeks and 2 days of gestation presenting multiple arthrogryposis, severe muscle hypotonia and respiratory distress with difficulty in feeding. She suffered from repeated complications with aspiration pneumonia. On admission to our hospital, she exhibited fasciculation and absence of deep tendon reflexes. Examination of the motor nerve conduction velocity (MCV) revealed no muscle contraction. Deletions of the SMN and NAIP genes were noted. Based on severe clinical course and disease development in utero, she was given a diagnosis of spinal muscular atrophy (SMA) type 0 (very severe type). Arthrogryposis and disappearance of MCV are exclusion criteria for SMA. However, the clinical course of the infant was very severe and included such exclusion items. Consequently, when an infant presents muscle hypotonia and respiratory distress, SMA must be considered as one of the differential diagnoses, even though arthrogryposis is an exclusion criterion for SMA. We discuss this case in relation to the few extant reports on SMA type 0 in Japanese infants in the literature.

  20. Clinical Characteristics of Cases with Spinal Muscular Atrophy

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    Mehmet Canpolat

    2016-04-01

    Full Text Available Introduction: The aim of this study is was to evaluate the clinical features of cases with diagnosis of spinal muscular atrophy (SMA. Materials and Methods: Thirty-eight pediatric patients were evaluated retrospectively. All patients were followed in the Pediatric Neurology Department of Erciyes University Faculty of Medicine. The diagnosis of patients had been confirmed by genetic analysis of homozygous deletions of survival motor neuron 1 gene. Detailed history, newborn symptoms, nutritional characteristics, initial complaints, physical examination, concomitant pathologies, genetic characteristics, and treatment modalities were investigated in all patients. Results: The study population consisted of 19 boys (50% and 19 girls (50%. The mean age of patients was 26.9±25.7 months (range: 3-96 months. The mean follow-up period was 12.2±13.3 months (range: 2-48 months. According to SMA classification, 22 patients (57.8% were type 1, 8 patients (21.1% were type 2, and 8 patients were (21.1% type 3. Neonatal respiratory distress, age at early diagnosis, nutritional problems, and recurrent lung diseases were detected as poor prognostic factors. Conclusions: SMA is a neuromuscular disease that requires multidisciplinary approach to medical care. There is a wide range of clinical severity. Identification of poor prognostic factors will help in terms of guiding close monitoring and timely treatments of children with SMA.

  1. Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome.

    Science.gov (United States)

    Maleki, Nasrollah; Bashardoust, Bahman; Zakeri, Anahita; Salehifar, Azita; Tavosi, Zahra

    2015-01-01

    To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus, diabetes insipidus, progressive optic atrophy, and deafness. A 19-year-old female patient, a known case of diabetes mellitus type I from six years before, presented with progressive vision loss since four years earlier. On fundoscopic examination, she had bilateral optic atrophy without diabetic retinopathy. The patient also had diabetes insipidus, neurosensory deafness, and neurogenic bladder. WS should be considered a differential diagnosis in patients with diabetes mellitus who present with optic atrophy, and it is necessary to perform a hearing test as well as collecting 24-h urine output.

  2. Facial hemiatrophy: Review of literature and a case report

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    Manisha S Tijare

    2011-01-01

    Full Text Available A case report of hemifacial atrophy is presented in this paper. It is also known as Parry-Romberg syndrome, is an uncommon degenerative and poorly understood condition. It is characterized by progressive atrophy of the skin, subcutaneous tissue, muscle, cartilage or bone; the condition can leave a marked deformity on one side of the face. The incidence and the cause of this alteration is debatable. The most common complications that appear in association to this health disorder are: trigeminal neuritis, facial paresthesia, severe headache and epilepsy. Now, plastic surgery with graft of autogenous fat can be performed, after stabilization of the disease, to correct the deformity. Orthodontic treatment can help in the correction of any associated malformation. This presentation gives a review of concern literature about the etiology, physiopathology, differential diagnosis and treatment of hemifacial atrophy.

  3. Townes-Brocks syndrome with overlapping features of hemifacial microsomia

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    Yadavalli Guruprasad

    2013-01-01

    Full Text Available Townes-Brocks syndrome (TBS is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Intelligence is usually normal, although mild moderate mental retardation has been reported. It can be difficult to differentiate clinically between hemifacial microsomia (HFM and Townes-Brocks syndrome (TBS. The distinction is important because TBS is inherited as an autosomal dominant trait, whereas HFM is sporadic. We report a classical case of TBS with overlapping features of hemifacial microsomia in an 11 year old boy who presented with unilateral anotia with hearing defect, renal agenesis and imperforate anus by birth.

  4. Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia.

    Science.gov (United States)

    Moloney, Thomas P; O'Hagan, Stephen; Lee, Lawrence

    2014-01-01

    Gyrate atrophy of the choroid and retina is a rare chorioretinal dystrophy inherited in an autosomal recessive pattern. We describe the first documented case of gyrate atrophy from Australia in a 56-year-old woman with a history of previous diagnosis of retinitis pigmentosa and worsening night vision in her right eye over several years. She was myopic and bilaterally pseudophakic, and fundus examination revealed pale optic discs and extensive peripheral chorioretinal atrophy exposing bare sclera bilaterally with only small islands of normal-appearing retina at each posterior pole. Visual field testing showed grossly constricted fields, blood testing showed hyperornithinemia, and further questioning revealed consanguinity between the patient's parents. We then used the patient's typical retinal findings of gyrate atrophy to demonstrate the potential use of ultrawide-field fundus photography and angiography in diagnosis and monitoring response in future treatment.

  5. A case of multiple system atrophy: onset with the cold hands sign

    Institute of Scientific and Technical Information of China (English)

    WANG Zhen-fu; WANG Qiong; WU Wei-ping

    2011-01-01

    @@ To the Editor: The cold hands sign (CHS) presents a distinct feature in some multiple system atrophy (MSA) patients, but it is receiving little consideration.To our knowledge, there are few reported cases of MSA with onset of CHS.We reported here a case of MSA in a patient with onset of a typical CHS.

  6. Hemifacial spasm. Study by magnetic resonance angiography; Espasmo hemifacial: estudo pela angiografia por ressonancia magnetica

    Energy Technology Data Exchange (ETDEWEB)

    Bittar, Miriam Salvadori; Staut, Claudio Cesar Vilela; Barbosa, Egberto Reis; Bacheschi, Luiz Alberto; Magalhaes, Alvaro Cebrian de Almeida [Sao Paulo Univ., SP (Brazil). Faculdade de Medicina. Hospital das Clinicas

    1995-12-31

    Nine patients with idiopathic hemifacial spasm were evaluated with cranial magnetic resonance imaging and angiography. Alterations of the posterior fossa vasculature, possibly related to the facial nerve irritation, were found in 8 patients (88%). Magnetic resonance angiography is a noninvasive procedure and appears to be a sensitive method to evaluate hemifacial spasm etiology. (author) 29 refs., 2 figs., 2 tabs.

  7. Hemifacial hyperhidrosis associated with ipsilateral/contralateral cervical disc herniation myelopathy. Functional considerations on how compression pattern determines the laterality.

    Science.gov (United States)

    Iwase, Satoshi; Inukai, Yoko; Nishimura, Naoki; Sato, Maki; Sugenoya, Junichi

    2014-01-01

    Sweating is an important mechanism for ensuring constant thermoregulation, but hyperhidrosis may be disturbing. We present five cases of hemifacial hyperhidrosis as a compensatory response to an/hypohidrosis caused by cervical disc herniation. All the patients complained of hemifacial hyperhidrosis, without anisocoria or blepharoptosis. Sweat function testing and thermography confirmed hyperhidrosis of hemifacial and adjacent areas. Neck MRI showed cervical disc herniation. Three of the patients had lateral compression with welldemarcated hypohidrosis below the hyperhidrosis on the same side as the cervical lesion. The rest had paramedian compression with poorly demarcated hyperhidrosis and hypohidrosis on the contralateral side. Although MRI showed no intraspinal pathological signal intensity, lateral dural compression might influence the circulation to the sudomotor pathway, and paramedian compression might influence the ipsilateral sulcal artery, which perfuses the sympathetic descending pathway and the intermediolateral nucleus. Sweat function testing and thermography should be performed to determine the focus of the hemifacial hyperhidrosis, and the myelopathy should be investigated on both sides.

  8. Case of dentato-rubro-pallido-luysian atrophy. MRI findings and disturbance of ocular movement

    Energy Technology Data Exchange (ETDEWEB)

    Usui, Sadanari; Komiya, Tadatoshi

    1988-06-01

    A clinical case of dentato-rubro-pallido-luysian atrophy (DRPLA) was reported. We established several aspects on the basis of MRI findings and a neuro-otological study. A 47-year-old woman had gait disturbance, involuntary movements, speech disturbance, and memory disturbance at the age of 42. She was admitted to the hospital because of worsening of the gait disturbance. Neurological examinations showed choreo-athetosis of the face, neck and upper extremities, mental disturbance, and scanning speech. However, she had neither ocular disturbance nor epilepsy or myoclonus. On the MRI-CT, an atrophy of midbrain and pontine tegmentum was observed. The neuro-otological study showed gaze nystagmus at the horizontal gaze, rebound nystagmus, hypometria of the saccade, saccadic pursuit, reduction of the optokinetic nystagmus, and increase in caloric nystagmus by means of visual input. A severe atrophy of the brainstem tegmentum and a mild atrophy of the cerebellar hemisphere and cerebral cortex are regarded as neuro-radiological features of DRPLA. Moreover, tegmental atrophy is related to ocular disturbance as a clinical feature. Various neuro-otological findings reveal many systems of ocular movements, i.e., a smooth pursuit system, a saccade system, and a vestibulo-ocular reflex system, involving flocculus. DRPLA can be clinically diagnosed by means of clinical features, MRI findings, and neuro-otological findings. A variety of neuro-otological abnormalities may indicate a progression of the ocular disturbance and a variety of lesions.

  9. Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia

    Directory of Open Access Journals (Sweden)

    Moloney TP

    2014-08-01

    Full Text Available Thomas P Moloney,1 Stephen O’Hagan,1 Lawrence Lee2,3 1Department of Ophthalmology, Cairns Hospital, Cairns, QLD, Australia; 2City Eye Centre, Brisbane, QLD, Australia; 3Associate Professor of Ophthalmology, School of Medicine, University of Queensland, Brisbane, QLD, Australia Abstract: Gyrate atrophy of the choroid and retina is a rare chorioretinal dystrophy inherited in an autosomal recessive pattern. We describe the first documented case of gyrate atrophy from Australia in a 56-year-old woman with a history of previous diagnosis of retinitis pigmentosa and worsening night vision in her right eye over several years. She was myopic and bilaterally pseudophakic, and fundus examination revealed pale optic discs and extensive peripheral chorioretinal atrophy exposing bare sclera bilaterally with only small islands of normal-appearing retina at each posterior pole. Visual field testing showed grossly constricted fields, blood testing showed hyperornithinemia, and further questioning revealed consanguinity between the patient’s parents. We then used the patient’s typical retinal findings of gyrate atrophy to demonstrate the potential use of ultrawide-field fundus photography and angiography in diagnosis and monitoring response in future treatment. Keywords: gyrate atrophy, ultrawide-field retinal photography, angiography, retinal photography, hyperornithinemia

  10. VERY SEVERE SPINAL MUSCULAR ATROPHY (TYPE 0: A REPORT OF THREE CASES

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    Mohammad BARZEGAR

    2010-10-01

    Full Text Available ObjectiveWe describe three patients with very severe Spinal Muscular Atrophy (SMA presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. In all infants, electrodiagnostic studies were compatible with a neurogenic pattern. In genetic studies, all cases had homozygous deletions of exons 7 and 8 of Survival Motor Neuron (SMN and exon 5 of Neuronal Apoptosis Inhibitory Protein (NAIP gene. SMA should be considered in the differential diagnosis of reduced fetal movement and respiratory insufficiency at birth.Keywords:Spinal muscular atrophy, survival motor neuron gene, neonate

  11. Distal spinal muscular atrophy and ophthalmoparesis. A case with selective type 2 fiber hypotrophy.

    Science.gov (United States)

    Dubrovsky, A; Taratuto, A L; Martino, R

    1981-09-01

    A patient had distal muscular atrophy involving the upper and lower extremities, ptosis of the lid, and ophthalmoparesis and cataracts. Muscle histochemistry and electromyographic examination showed lower motor neuron involvement. This case is similar to others described in the literature and designated as distal spinal muscular atrophy. The unique association with ophthalmologic signs can be considered either as a variant form of the disease or as a separate entity. Muscle biopsy showed selective type 2 muscle fiber hypotrophy in the biceps. A second biopsy specimen of the quadriceps showed type grouping with persistence of small type 2 fibers, suggesting that reinnervation capability is independent of neuronal trophic influence.

  12. Aquatic Therapy for a Child with Type III Spinal Muscular Atrophy: A Case Report

    Science.gov (United States)

    Salem, Yasser; Gropack, Stacy Jaffee

    2010-01-01

    Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons. This case report describes an aquatic therapy program and the outcomes for a 3-year-old girl with type III SMA. Motor skills were examined using the 88-item Gross Motor Function Measure (GMFM), the Peabody Developmental Motor Scales…

  13. Aquatic Therapy for a Child with Type III Spinal Muscular Atrophy: A Case Report

    Science.gov (United States)

    Salem, Yasser; Gropack, Stacy Jaffee

    2010-01-01

    Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons. This case report describes an aquatic therapy program and the outcomes for a 3-year-old girl with type III SMA. Motor skills were examined using the 88-item Gross Motor Function Measure (GMFM), the Peabody Developmental Motor Scales…

  14. Hemifacial spasm: clinical characteristics of 321 Indian patients.

    Science.gov (United States)

    Batla, Amit; Goyal, Chanchal; Shukla, Garima; Goyal, Vinay; Srivastava, Achal; Behari, Madhuri

    2012-08-01

    Hemifacial spasm (HFS) is a common neurological disorder characterized by involuntary tonic and clonic contractions of the muscles innervated by the facial nerve. We aimed to describe clinical features, common antecedents, triggers and relieving factors in patients with hemifacial spasm to study the correlation of hypertension and HFS, and to compare clinical features of primary and secondary cases of HFS. The data for the study were collected prospectively on a predesigned and pre-tested format at the first attendance in all consecutive HFS patients attending the movement disorders clinic of a tertiary teaching hospital in India. The demographic profile, HFS symptoms, antecedent illnesses and neurological examination were recorded and analyzed. Muscle power in individual muscles innervated by the facial nerve was tested carefully before botulinum toxin injection. Hemifacial spasm occurred in 7.14% (n = 582) of 8,151 cases registered at the movement disorders clinic from 1993 to 2010. Data of 321 patients were complete and were included in the study. Females constituted 49.22% (n = 158). The mean age the patients was 46.02 ± 11.82 years; ipsilateral ear clicking was observed in 22.74% cases. The most common aggravating factor was stress (44.86%), while the most common relieving factor was sleep (44.24%). Two hundred fifty-two patients (78.5%) had primary HFS. The severity of spasm correlated significantly with disease duration (p muscles (p < 0.001). We did not observe any correlation between HFS on the left side and hypertension, as has been reported earlier. This is one of the largest studies of HFS patients and the only one that prospectively assesses patients with HFS clinically on their first visit. Interesting observations of this study are lack of female preponderance, presence of clicking in the ipsilateral ear and facial weakness even prior to botulinum toxin injection.

  15. Parry-Romberg syndrome: findings in advanced magnetic resonance imaging sequences - case report

    Energy Technology Data Exchange (ETDEWEB)

    Paula, Rafael Alfenas de; Ribeiro, Bruno Niemeyer de Freitas, E-mail: alfenas85@gmail.com [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). Hospital Universitario Clementino Fraga Filho; Bahia, Paulo Roberto Valle [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). Dept. de radiologia; Ribeiro, Renato Niemeyer de Freitas [Hospital de Clinica de Jacarepagua, Rio de Janeiro, RJ (Brazil); Carvalho, Lais Balbi de [Universidade Presidente Antonio Carlos (Unipac), Juiz de Fora, MG (Brazil)

    2014-05-15

    Parry-Romberg syndrome is a rare disease characterized by progressive hemifacial atrophy associated with other systemic changes, including neurological symptoms. Currently, there are few studies exploring the utilization of advanced magnetic resonance sequences in the investigation of this disease. The authors report the case of a 45-year-old patient and describe the findings at structural magnetic resonance imaging and at advanced sequences, correlating them with pathophysiological data. (author)

  16. Hemifacial spasm and neurovascular compression.

    Science.gov (United States)

    Lu, Alex Y; Yeung, Jacky T; Gerrard, Jason L; Michaelides, Elias M; Sekula, Raymond F; Bulsara, Ketan R

    2014-01-01

    Hemifacial spasm (HFS) is characterized by involuntary unilateral contractions of the muscles innervated by the ipsilateral facial nerve, usually starting around the eyes before progressing inferiorly to the cheek, mouth, and neck. Its prevalence is 9.8 per 100,000 persons with an average age of onset of 44 years. The accepted pathophysiology of HFS suggests that it is a disease process of the nerve root entry zone of the facial nerve. HFS can be divided into two types: primary and secondary. Primary HFS is triggered by vascular compression whereas secondary HFS comprises all other causes of facial nerve damage. Clinical examination and imaging modalities such as electromyography (EMG) and magnetic resonance imaging (MRI) are useful to differentiate HFS from other facial movement disorders and for intraoperative planning. The standard medical management for HFS is botulinum neurotoxin (BoNT) injections, which provides low-risk but limited symptomatic relief. The only curative treatment for HFS is microvascular decompression (MVD), a surgical intervention that provides lasting symptomatic relief by reducing compression of the facial nerve root. With a low rate of complications such as hearing loss, MVD remains the treatment of choice for HFS patients as intraoperative technique and monitoring continue to improve.

  17. Hemifacial microsomia: from gestation to childhood.

    Science.gov (United States)

    Werler, Martha M; Starr, Jacqueline R; Cloonan, Yona K; Speltz, Matthew L

    2009-03-01

    Hemifacial microsomia (HFM) is a variable, complex malformation involving asymmetric hypoplasia of the face and ear. Little is known about the risk factors for or consequences of HFM. In this study, we describe 3 studies that have been or are currently being conducted to further our understanding of this malformation. The first completed study examined whether HFM risk is related to maternal exposures that may affect blood flow. In that case-control study, interview data from 230 mothers of children in the case group and 678 mothers of children in the control group suggested that maternal use of vasoactive medications in the first trimester, particularly in combination with cigarette smoking, was associated with increased risks of HFM. The second study is currently underway, in which we are evaluating whether HFM risk is related to genetic variation in pathways associated with vasculogenesis and hemostasis, using DNA collected in the first study. The third ongoing study observes children with HFM to identify psychosocial, cognitive, dental, and medical sequelae. When the children from the original case-control study are 6 or 7 years of age, mothers and teachers complete self-administered questionnaires that cover a wide range of psychosocial development domains. Preliminary analyses of 115 case and 314 control children suggest that children with HFM may have worse teacher-reported academic performance and possibly higher levels of internalizing behavior problems than control children. When data on the full study sample are available, further analyses will determine whether the preliminary findings remain and if they vary by HFM phenotype, parenting style, or indicators of social risk.

  18. Vascularized fibula free flap for implant rehabilitation in the case of extreme atrophy.

    Science.gov (United States)

    Baj, A; Bellocchio, G; Laganà, F; Beltramini, G A; Testori, T; Giannì, A B

    2010-04-01

    The skeletal reconstruction in cases of extreme atrophy like a class VI Cawood classification can be carried out using free bone flaps. They represent a valid option for preprosthetic rehabilitation of atrophic maxillas. Over the last 5 years, the use of vascularized bone transplants, aimed at implant-prosthetic rehabilitation, has become a practice, which has gradually found the right indications and the range of applications, which are now widely acknowledged. The key to success in the use of free flaps lies in the identification of the correct indications for use, in meticulous programming and the particular motivation that this type of patient has for reacquiring optimum masticatory functions. The final prosthetic implant rehabilitation must be prosthetically guided and an accurate preoperative planning is of fundamental importance for restoring masticatory functions and esthetic harmony to the patient through a fixed prosthesis. The authors present a case of a rehabilitation of an extreme maxillary and mandibular atrophy.

  19. [A girl with congenital hemifacial hypertrophy

    NARCIS (Netherlands)

    Broeke, S.M. van den; Wolvius, E.B.; Adrichem, L.N. van; Baat, C. de

    2006-01-01

    A girl with congenital hemifacial hypertrophy had been observed and treated by a multidisciplinary team for craniofacial disorders in an academic medical centre since birth. At the age of 8 she was treated on account of considerable facial asymmetry and multiple intraoral problems. The two-step surg

  20. Facial nerve palsy and hemifacial spasm.

    Science.gov (United States)

    Valls-Solé, Josep

    2013-01-01

    Facial nerve lesions are usually benign conditions even though patients may present with emotional distress. Facial palsy usually resolves in 3-6 weeks, but if axonal degeneration takes place, it is likely that the patient will end up with a postparalytic facial syndrome featuring synkinesis, myokymic discharges, and hemifacial mass contractions after abnormal reinnervation. Essential hemifacial spasm is one form of facial hyperactivity that must be distinguished from synkinesis after facial palsy and also from other forms of facial dyskinesias. In this condition, there can be ectopic discharges, ephaptic transmission, and lateral spread of excitation among nerve fibers, giving rise to involuntary muscle twitching and spasms. Electrodiagnostic assessment is of relevance for the diagnosis and prognosis of peripheral facial palsy and hemifacial spasm. In this chapter the most relevant clinical and electrodiagnostic aspects of the two disorders are reviewed, with emphasis on the various stages of facial palsy after axonal degeneration, the pathophysiological mechanisms underlying the various features of hemifacial spasm, and the cues for differential diagnosis between the two entities.

  1. A case of bulbospinal muscular atrophy with chief complaint of sensory disorder in the lower extremities.

    Directory of Open Access Journals (Sweden)

    Kuroda,Shigetoshi

    1990-12-01

    Full Text Available A 56-year-old man was admitted to our department with a chief complaint of lower extremity dysesthesia. He described a dull numbness below the ankle and a dull pain in the nates for the past two years. Although the numbness extended to the thigh, he did not notice any muscular weakness or atrophy. Neurological examination revealed weakness and atrophy in the face, tongue and the proximal portions of all four extremities. Deep tendon reflexes were decreased. A moderate loss of vibratory sensation was noted below the knees. Electromyography showed neurogenic changes. Muscle biopsy revealed both myogenic and neurogenic changes. Sural nerve biopsy revealed a mild reduction of myelinated fibers, particularly the large-diameter fibers. Based on these findings, a diagnosis of bulbospinal muscular atrophy (BSMA was made. In recent years, there have been some case reports of BSMA with sensory disturbances, or merely with subclinical manifestations of a sensory disturbance. This case is included in the same category as those reports, but it is interesting to note that the sensory disturbance in the lower extremities occurred as the chief complaint of the disease.

  2. Vaginal Atrophy

    Science.gov (United States)

    ... Body in Balance › Vaginal Atrophy Fact Sheet Vaginal Atrophy November, 2011 Download PDFs English Espanol Editors JoAnn ... MD Richard J. Santen, MD What is vaginal atrophy? Vaginal atrophy is a condition in which the ...

  3. Clinico-MRI study of hemispheric disorder in long-term follow-up cases of multiple system atrophy

    Energy Technology Data Exchange (ETDEWEB)

    Konagaya, Masaaki; Miwa, Shigeru; Matsuoka, Yukihiko [Suzuka National Hospital, Mie (Japan); Konagaya, Yoko

    1998-12-01

    Twelve cases of multiple system atrophy (MSA) were studied for clinical and MRI findings of the cerebral hemispheric involvement. The subjects consisted of five olivopontocerebellar atrophy (OPCA) type and seven striatonigral degeneration (SND) type. The age at onset was 56.7{+-}8.0 (M{+-}SD) years, duration of illness at the first MRI study 3.2{+-}1.1 years, duration of illness at the last study 8.1{+-}2.2 years, and the following up duration 4.9{+-}2.0 years. The grasping phenomenon was observed in 70% of the cases examined, snout reflex in 80%, slowness of verbal response in 88%, and decrease of spontaneous speech in 100%. Three cases finally fell into the state of mutism. Three out of ten cases were categorized as dementia by HDS-R (Hasegawa Dementia Scale-Revised) test. Besides the progression of the pontocerebellar atrophy and putaminal changes, MRI study revealed progressive frontal lobe atrophy in most cases. At six years after the onset, SND type showed significantly higher incidence of conspicuous frontal lobe atrophy and dilatation of the Sylvian fissure than OPCA type. Cerebral ventricular dilatation was common feature, and atrophy of the temporal and occipital lobes were observed in several cases. We indicated the possible involvement of the cerebral hemisphere, especially the frontal lobe, and higher nervous function in MSA. (author)

  4. The incidence of anterior belly of digastric agenesis in patients with hemifacial microsomia.

    Science.gov (United States)

    MacQuillan, Anthony; Biarda, Fulvio Ursa; Grobbelaar, Adriaan

    2010-10-01

    : The study examined the incidence of anterior belly of digastric muscle agenesis in patients with hemifacial microsomia, to determine the need for routine imaging of the floor of the mouth in patients within this group requesting dynamic lower lip reanimation. : Patients presenting with microtia were assessed according to the OMENS [orbital deformity, mandibular hypoplasia, ear deformity, nerve (cranialnerve VII) involvement, and soft-tissue deficiency] criteria, and also imaged to establish the presence or absence of the anterior belly of the digastric muscle. Each affected hemiface was treated as an individual case (n = 50), with unaffected hemifaces being assigned as controls (an additional group of unaffected controls were also included). The hemifaces with microtia were then subdivided into three groups: those with isolated microtia (with anterior belly of the digastric muscle present), those with features consistent with hemifacial microsomia (with the anterior belly of the digastric muscle present), and those with absent anterior belly of the digastric muscle. : Anterior belly of the digastric muscle agenesis rate was 40 percent in those patients displaying features consistent with hemifacial microsomia. Median OMENS scores were significantly different in intergroup analysis (p muscle. There were no noted incidences of anterior belly of the digastric muscle agenesis in the control group. : The incidence of anterior belly of the digastric muscle agenesis in patients with hemifacial microsomia is high. Before any attempt to undertake lower lip reanimation using this muscle, the floor of the mouth should be imaged to check for its presence.

  5. Neuroradiological diagnosis of trigeminal neuralgia and hemifacial spasm

    Energy Technology Data Exchange (ETDEWEB)

    Hosoya, Takaaki; Uchimura, Fumiaki; Yamaguchi, Koichi; Yamagiwa, Osamu; Itagaki, Shinichi (Yamagata Univ. (Japan))

    1983-12-01

    Recently excellent results have been reported with microvascular decompression in cases of trigeminal neuralgia (TN) and hemifacial spasm (HFS). The neuroradiological diagnosis of TN and HFS. however, is not satisfactory. As a trial, we performed metrizamide CT cisternography (MCT) or gas CT cisternography (GCT) in order to reveal the nerve and the adjacent structures in the cisternal portion for preoperative diagnosis. MCT was performed in two patients with TN and in two patients with HFS, while GCT was performed in three patients with TN and in two patients with HFS. One case with TN was examined by both MCT and GCT. Therefore, the diagnostic value of MCT and GCT in TN or HFS has been evaluated in nine examinations in eight cases. MCT and GCT are both useful in delineating the trigeminal nerve, the facial nerve, and the adjacent arteries. Therefore, it is possible thus to diagnose the vascular compressing point and the offending artery in patients with TN and HFS.

  6. VERY SEVERE SPINAL MUSCULAR ATROPHY (TYPE 0: A REPORT OF THREE CASES

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    BARZEGAR mohammad MD

    2010-09-01

    Full Text Available AbstractObjectiveWe describe three patients with very severe Spinal Muscular Atrophy (SMA presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. In all infants, electrodiagnostic studies were compatible with a neurogenic pattern. In genetic studies, all cases had homozygous deletions of exons 7 and 8 of Survival Motor Neuron (SMN and exon 5 of Neuronal Apoptosis Inhibitory Protein (NAIP gene. SMA should be considered in the differential diagnosis of reduced fetal movement and respiratory insufficiency at birth.

  7. Cortical sensory loss in a patient with posterior cortical atrophy: a case report.

    Science.gov (United States)

    Hsu, Jung-Lung; Chen, Wei-Hung; Chiu, Hou-Chang

    2004-02-01

    Patients with posterior cortical atrophy (PCA) who present with initial symptoms of higher visual function deficits eventually develop alexia, aphasia, and components of Balint's syndrome or Gerstmann's syndrome. Recently, pathological findings were reported for these patients that are generally suggestive of Alzheimer's disease even though Creutzfeldt-Jakob disease (CJD) was presumed as an alternative cause of some autopsy-diagnosed PCA cases. Here, we report a case with a four-year progression of cognitive and higher visual function deterioration, and with features not described in previously reported PCA cases (i.e., a distinct sensory complaint and early frontal lobe involvement). To summarize, this case belongs to perceptual-motor syndrome of asymmetric cortical degeneration and the underlying neuropathology is more suggestive of Alzheimer's disease than of Creutzfeldt-Jakob disease.

  8. Hemifacial spasm: The past, present and future.

    Science.gov (United States)

    Chaudhry, Neera; Srivastava, Abhilekh; Joshi, Laxmikant

    2015-09-15

    Hemifacial spasm is characterised by unilateral contractions of the facial muscles. Though considered to be benign by many people, it can lead to functional blindness and a poor quality of life due to social embarrassment for the suffering individual. Botulinum toxin therapy is an excellent noninvasive tool to treat this condition. However, surgical decompression of the aberrant vessel is also an upcoming approach to therapy for this condition.

  9. Facial contouring with parascapular free flap: A case series of 22 cases

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    Guru Dayal Singh Kalra

    2013-01-01

    Full Text Available Background: The facial asymmetry correction in complex craniofacial malformations presents a challenging problem for reconstructive surgeons. Progressive hemifacial atrophy (HFA and hemifacial microsomia (HFM can manifest in different grades of severity. Most patients require only soft-tissue augmentation. Free flaps are the best option for correction of severe facial soft-tissue deficiency. Materials and Methods: Twenty-two patients of HFM and HFA were included in this study from January 2006 to March 2009 in the Department of Plastic and Reconstructive Surgery, SMS Medical College and Hospital. In all cases, atrophy correction was done using de-epithelialised parascapular free flap with the de-epithelialised surface was placed under the skin. A small skin paddle was taken for monitoring. Results: All cases were reconstructed with de-epithelialised parascapular free flap. There was no flap loss in this series. Hematoma was noted in five cases. Debulking and removal of skin paddle were done in all cases after 6 months. Atrophy recurrence was not observed in any of the cases on follow-up. Conclusion: Contouring of face in cases of HMF and HFA is satisfactorily done with the parascapular free flap. It gives better cosmetic results with minimal donor site morbidity. Facial vessels are better recipient vessels for anastomosis. Keeping de-epithelialised surface of flap under the skin helped in preventing sagging.

  10. Vaginal Atrophy

    Science.gov (United States)

    Vaginal atrophy Overview Vaginal atrophy (atrophic vaginitis) is thinning, drying and inflammation of the vaginal walls due to your body having less estrogen. Vaginal atrophy occurs most often after ...

  11. Espasmo hemifacial bilateral: relato de caso

    OpenAIRE

    Machado Flavia Costa Nunes; Fregni Felipe; Campos Cynthia Resende; Limongi João Carlos Papaterra

    2003-01-01

    Espasmo hemifacial bilateral é um distúrbio de movimento raro geralmente associado à compressão vascular dos nervos faciais. Caracteriza-se clinicamente por contrações assimétricas e assíncronas da musculatura facial e por longa latência entre a instalação dos movimentos em cada hemiface. Deve ser diferenciado de outras condições como blefaroespasmo, miocimia facial, tiques faciais, distonia oromandibular e espasmo hemimastigatório. O tratamento sintomático mais eficaz e menos invasivo consis...

  12. Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil

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    Victor Kosac

    2013-10-01

    Full Text Available Familial spinal muscular atrophy (FSMA associated with the vesicle-associated membrane protein-associated protein B (VAPB gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.

  13. A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.

    Science.gov (United States)

    Iwahara, Naotoshi; Hisahara, Shin; Hayashi, Takashi; Kawamata, Jun; Shimohama, Shun

    2015-02-20

    Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A/C gene mutations has been published. The concept that lamin A/C gene mutations cause spinal muscular atrophy has not been established. We report a man aged 65 years who presented with amyotrophy of lower limbs, arrhythmia and cardiac hypofunction. He showed gait disturbance since childhood, and his family showed similar symptoms. Neurological and electrophysiological findings suggested spinal muscular atrophy type 3. Gene analysis of lamin A/C gene showed a novel nonsense mutation p.Q353X (c.1057C > T). Further investigations revealed that he and his family members had cardiac diseases including atrioventricular block. We report the first Japanese case of spinal muscular atrophy phenotype associated with lamin A/C mutation. When a patient presents a spinal muscular atrophy phenotype and unexplained cardiac disease, especially when the family history is positive, gene analysis of lamin A/C gene should be considered.

  14. Steroid atrophy scarring treated with fat grafting in a patient with complex regional pain syndrome: A case report.

    Science.gov (United States)

    Strickland, Leah R; Collawn, Sherry S

    2016-06-01

    Subcutaneous atrophy is a known complication of steroid injections. Excellent results with fat grafting for the treatment of steroid atrophy have been documented. However, the benefit of treating steroid-induced subcutaneous atrophy in an extremity diagnosed with complex regional pain syndrome (CRPS) has not been described. CRPS, known formerly as reflex sympathetic dystrophy or RSD, causalgia, or reflex neurovascular dystrophy, is a severe, progressive musculoskeletal pain syndrome characterized by pain which is disproportionate to the severity of the inciting event, edema, or skin changes. Common treatment modalities include pharmacotherapy, physical therapy, and nerve blocks-each therapy producing varying results. We present a literature review of CRPS and the case of a 15-year-old female who developed CRPS of the left lower leg after arthroscopic debridement with retrograde drilling of an osteochondral lesion. Steroid atrophy of the involved area following a saphenous nerve block complicated the patient's treatment course. The area of atrophy was treated with autologous fat grafting. Following the adipose injection procedure, the patient experienced almost complete resolution of her CPRS-associated pain symptoms, along with improved cosmetic appearance of the area.

  15. Parkinson's disease-like presentation of multiple system atrophy with poor response to STN stimulation: a clinicopathological case report.

    Science.gov (United States)

    Lezcano, Elena; Gómez-Esteban, Juan C; Zarranz, Juan J; Alcaraz, Rafael; Atarés, Begoña; Bilbao, Gaizka; Garibi, Jesús; Lambarri, Imanol

    2004-08-01

    We report on a clinicopathological case of multiple system atrophy with good response to levodopa and subsequent development of motor complications. Because the subject complied with all the inclusion criteria (Core Assessment Program for Surgical Interventional Therapies in Parkinson's Disease), bilateral subthalamic nucleus deep brain stimulation electrodes were implanted.

  16. Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients

    Institute of Scientific and Technical Information of China (English)

    QU Yu-jin; SONG Fang; YANG Yan-ling; JIN Yu-wei; BAI Jin-li

    2011-01-01

    Background Infantile proximal spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. Approximately 90-95% cases of SMA result from homozygous deletion of survival motor neuron gene 1(SMN1) and 5% cases are caused by compound heterozygous mutation (a SMN1 deletion on one allele and a subtle mutation on the other allele).Methods In this research, two unrelated patients were clinically diagnosed according to the criteria of proximal SMA. Genetic diagnosis was performed to detect the homozygous deletion of exon 7 of SMN1 by PCR-restriction fragment length polymorphism (RFLP) and genomic sequencing. Multiplex ligation-dependent probe amplification (MLPA) analysis was carried out to measure copy numbers of SMN1, SMN2 and neuronal apoptosis inhibitor protein (NAIP) in the patients. Further sequencing of SMN1allele-specific PCR (AS-PCR) and SMN1 clones were also performed to analyze the point mutation of SMN1 gene. Additionally,the pedigree analysis of these two families was carried out to identify the transmission of the mutation.Results The inconsistent results using PCR-RFLP and genomic sequencing showed homozygous deletion of exon 7 of SMN1 and heterozygous deletion accompanied with a suspicious mutation in SMN1 gene, respectively. MLPA analysis of these two cases exhibited one SMN1 copy deletion. One identical c.863G>T (p. Arg288Met) mutation was found in two cases by sequencing the SMN1 clones, which confirmed that both cases were SMA compound heterozygotes. One case showed partial conversion to form hybrid SMN (SMN2 17/SMN1 E8) identified by clones sequencing and another case carrying 3 SMN2 implied complete conversion from SMN1 to SMN2.Conclusion p. Arg288Met is more a disease-causing mutation than a polymorphism variation, and children with this mutation may have more severe phenotypes.

  17. Beyond the midbrain atrophy: wide spectrum of structural MRI finding in cases of pathologically proven progressive supranuclear palsy

    Energy Technology Data Exchange (ETDEWEB)

    Sakurai, Keita; Tokumaru, Aya M.; Shimoji, Keigo [Tokyo Metropolitan Medical Center of Gerontology, Department of Diagnostic Radiology, Tokyo (Japan); Murayama, Shigeo; Kanemaru, Kazutomi; Morimoto, Satoru [Tokyo Metropolitan Geriatric Hospital, Department of Neurology, Tokyo (Japan); Aiba, Ikuko [National Hospital Organization Higashi Nagoya National Hospital, Department of Neurology, Nagoya (Japan); Nakagawa, Motoo; Ozawa, Yoshiyuki; Shimohira, Masashi; Shibamoto, Yuta [Nagoya City University Graduate School of Medical Sciences, Department of Radiology, Nagoya (Japan); Matsukawa, Noriyuki [Nagoya City University Graduate School of Medical Sciences, Department of Neurology and Neuroscience, Nagoya (Japan); Hashizume, Yoshio [Fukushimura Hospital, Choju Medical Institute, Toyohashi (Japan)

    2017-05-15

    Recently, it has been recognized that pathologically proven progressive supranuclear palsy (PSP) cases are classified into various clinical subtypes with non-uniform symptoms and imaging findings. This article reviews essential imaging findings, general information, and advanced magnetic resonance imaging (MRI) techniques for PSP and presents these MRI findings of pathologically proven typical and atypical PSP cases for educational purposes. With the review of literatures, notably including atypical pathologically proven PSP cases, MRI and clinical information of 15 pathologically proven typical and atypical PSP cases were retrospectively evaluated. In addition to typical symptoms, PSP patients can exhibit atypical symptoms including levodopa-responsive parkinsonism, pure akinesia, non-fluent aphasia, corticobasal syndrome, and predominant cerebellar ataxia. As well as clinical symptoms, the degree of midbrain atrophy, a well-known imaging hallmark, is not consistent in atypical PSP cases. This fact has important implications for the limitation of midbrain atrophy as a diagnostic imaging biomarker of PSP pathology. Additional evaluation of other imaging findings including various regional atrophies of the globus pallidus, frontal lobe, cerebral peduncle, and superior cerebellar peduncle is essential for the diagnosis of atypical PSP cases. It is necessary for radiologists to recognize the wide clinical and radiological spectra of typical and atypical PSP cases. (orig.)

  18. Resistance Training with Instability in Multiple System Atrophy: A Case Report

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    Carla Silva-Batista

    2014-09-01

    Full Text Available This case report assessed quality of life, activities of daily living, motor symptoms, functional ability, neuromuscular parameters and mRNA expression of selected genes related to muscle protein synthesis and degradation in a patient with Multiple System Atrophy (MSA. The patient underwent resistance training with instability devices (i.e., bosu, dyna disk, balance disk, Swiss ball for six months twice a week. After the six months training, the patient’s left and right quadriceps muscle cross-sectional area and leg press one-repetition maximum increased 6.4%, 6.8%, and 40%, respectively; the patient’s timed up and go, sit to stand, dynamic balance, and activities of daily living improved 33.3%, 28.6%, 42.3%, and 40.1%, respectively; the patient’s severity of motor symptoms and risk of falls decreased 32% and 128.1%, respectively. Most of the subscales of quality of life demonstrated improvements as well, varying from 13.0% to 100.0%. mRNA expression of mechanogrowth factor and mammalian target of rapamycin increased 12.7-fold and 1.5-fold, respectively. This case report describes likely the first nonpharmacological therapeutic tool that might be able to decrease the severity of motor symptoms and risk of falls, and to improve functional ability, neuromuscular parameters, and quality of the life in a patient with MSA.

  19. International Referral and Elderly Care—A Case of Atypical Parkinsonism and Cerebellar Atrophy

    Directory of Open Access Journals (Sweden)

    Ying-Hua Shieh

    2009-09-01

    Full Text Available A 66-year-old male patient had a history of hepatitis B, was a hepatitis C carrier, and had hypertension. He was referred to our family medicine international clinic by the Canadian Physician's Referral Service. He had had progressive general weakness over 2 years, and the symptom had recently exacerbated. He also had slurred speech, difficulty in swallowing with occasional choking, constipation, and urinary incontinence. He was diagnosed as having Parkinson disease, but his symptoms worsened despite treatment with levodopa 250mg four times daily for 2 years. He had sought medical help in many clinics in Taiwan and Canada and was referred to our outpatient clinic by his Canadian family physician. The neurologist suggested that the diagnosis was multiple system atrophy (MSA after history taking and neurologic examination. Rehabilitation programs, including physical therapy, occupational therapy and speech therapy, were arranged for him. Many Taiwanese immigrants prefer to come back to Taiwan for medical treatment. If we can integrate medical resources not only between different hospitals but also between different countries, many unnecessary medical expenses could be avoided. In this case, we summarized the case history and provided him with a CD of the images. This will be helpful in further care by a Canadian physician.

  20. An autopsy case of preclinical multiple system atrophy (MSA-C).

    Science.gov (United States)

    Kon, Tomoya; Mori, Fumiaki; Tanji, Kunikazu; Miki, Yasuo; Wakabayashi, Koichi

    2013-12-01

    Multiple system atrophy (MSA) is divided into two clinical subtypes: MSA with predominant parkinsonian features (MSA-P) and MSA with predominant cerebellar dysfunction (MSA-C). We report a 71-year-old Japanese man without clinical signs of MSA, in whom post mortem examination revealed only slight gliosis in the pontine base and widespread occurrence of glial cytoplasmic inclusions in the central nervous system, with the greatest abundance in the pontine base and cerebellar white matter. Neuronal cytoplasmic inclusions (NCIs) and neuronal nuclear inclusions (NNIs) were almost restricted to the pontine and inferior olivary nuclei. It was noteworthy that most NCIs were located in the perinuclear area, and the majority of NNIs were observed adjacent to the inner surface of the nuclear membrane. To our knowledge, only four autopsy cases of preclinical MSA have been reported previously, in which neuronal loss was almost entirely restricted to the substantia nigra and/or putamen. Therefore, the present autopsy case of preclinical MSA-C is considered to be the first of its kind to have been reported. The histopathological features observed in preclinical MSA may represent the early pattern of MSA pathology.

  1. Muscle atrophy

    Science.gov (United States)

    ... atrophy. Exercises may include ones done in a swimming pool to reduce the muscle workload, and other types ... a physical examination and ask about your medical history and symptoms, including: When did the muscle atrophy ...

  2. Neuroelectrophysiological indexes and clinical characteristics of patients with peroneal muscular atrophy: Retrospective analysis of 24 cases

    Institute of Scientific and Technical Information of China (English)

    Changchun Su; Qinbao Qin

    2006-01-01

    BACKGROUND: Peroneal muscular atrophy (PMA) is characterized by insidious onset, gradually progressive course of disease, very mild disability degree and easily subjecting to missed diagnosis and misdiagnosis.Nerve conductive velocity is helpful in the diagnosis of atypical cases.OBJECTIVE: To retrospectively analyze the characteristics of clinical manifestation, electromyogram (EMG),motor and sensory nerve conduction velocity of patients with PMA.DESIGN: Retrospective case analysis.SETTING: Department of Neurology, Guangzhou First People's Hospital.PARTICIPANTS: Twenty-four patients with PMA, including 16 males and 8 females, aged 5-68 years old,admitted to Guangzhou First People's Hospital between March 1996 and January 2006 were recruited.Informed consents were obtained from all the patients.METHODS: All the patients subjected to EMG and detection of nerve conduction velocity at distal end of four extremities with a Keypoint evoked potential/ EMG instrument (Denmark). Sensory and motor conduction velocity, EMG changes of upper and lower extremities were observed, and relationship of neuroelectrophysiological characteristics and clinical symptoms was analyzed.MAIN OUTCOME MEASURES: Changes in sensory and motor conduction velocity, EMG and clinical manifestations of 24 patients.RESULTS: ① All the patients suffered from insidious onset and gradually progressive course of PMA.Muscular atrophy of lower extremity was found in 14 patients, and that of upper extremity in 5 patients. ② Routine nerve conduction study showed that sensory and motor conduction velocity were stepped down,especially in 16 patients with type Ⅰ PMA (demyelinating pattern, nerve conduction velocity below normal level 50%). Motor nerve conduction velocity of median nerve, ulnar nerve, common peroneal nerve and tibial nerve averaged 34.8 m/s, 37.2 m/s, 16.5 m/s and 17.4 m/s, respectively; Sensory nerve conduction velocity of median nerve, ulnar nerve and sural nerve averaged 27.9%, 24.6 m

  3. Multiple system atrophy with syndrome of inappropriate antidiuretic hormone secretion: clinical analysis on three cases

    Directory of Open Access Journals (Sweden)

    Man-qing XIE

    2017-02-01

    Full Text Available Background Multiple system atrophy (MSA is a neurodegenerative disorder affecting motor (either extrapyramidal or cerebellar and autonomic nervous systems. The main clinical manifestations of MSA are parkinsonism, cerebellar ataxia and autonomic dysfunction. It may also affect the hypothalamus and related fibers, resulting in syndrome of inappropriate antidiuretic hormone secretion (SIADH and hyponatremia. This study aims to identify the clinical characteristics of MSA with SIADH, so as to provide evidence for clinical diagnosis and treatment. Methods Clinical manifestations, laboratory examinations and imaging features, diagnosis and treatment of 3 MSA patients with SIADH in our hospital from 2011 to 2015 were retrospectively analyzed. Results Among 3 MSA patients, 2 cases were parkinsonism-predominant (MSA-P and the other one was cerebellar-predominant (MSA-C. All of them presented severe hyponatremia. The lowest serum sodium concentration was 123, 118 and 121 mmol/L, respectively. The level of urinary sodium concentration was 91, 114 and 129 mmol/L, respectively. One was diagnosed as definite SIADH, and the other 2 cases were possible SIADH. Two cases were complicated with infection (one Legionella pneumophila and one pulmonary infection, which was greatly improved after anti-infection treatment and sodium supplement. The other case died of refractory hyponatremia in the end. Conclusions MSA patients with autogenous or concurrent infection may be susceptible to SIADH, therefore water-sodium balance management is important for MSA patients. MSA with SIADH is rare, and refractory hyponatremia may indicate a poor prognosis. DOI: 10.3969/j.issn.1672-6731.2017.02.009

  4. Hemifacial spasm and posterior auricular muscle.

    Science.gov (United States)

    Kiziltan, M; Sahin, R; Uzun, N; Kiziltan, G

    2006-09-01

    We aimed to investigate to which extent posterior auricular muscle (PAM) was affected and whether it contributed to the reflex activity in hemifacial spasm (HFS) patients. 19 HFS patients' spasm activities were recorded from facial muscles. Spasm activity of PAM was recorded synchronously on the symptomatic side in all patients. Lateral spread of blink reflex to orbicularis oris and PAMs were recorded in all but two patients. Botulinum toxin was applied to the PAM with the 14 patients presenting tinnitus, "clicking" or a "ticking" sound on the sane side and other positive auricular symptoms. After treatment, there was symptomatic improvement in 9 of 14 patients. The patients presenting with auricular symptoms and showing spasm activity in their PAMs can be thought as a candidate for botulinum toxin treatment scheme.

  5. A型肉毒杆菌毒素治疗面肌痉挛、 睑肌痉挛68例报告%Treatment of hemifacial spasm and blepharospasm with botudinum toxin A: clinical report of 68 cases

    Institute of Scientific and Technical Information of China (English)

    付耀高

    2001-01-01

    Aim: To evaluate the efficacy of Botulinum toxin A for hemifacial spasm and for the facialspasm and blepharospasm. Methods: a total of 68 individuals were enrolled in the clinical study. TheBotulinum Toxin A was locally injected into the involved muscles. The dosage for each injection was 1~2 ng/mL(2.5~50 U/mL). Results: The overall successful rate of relief of spasm was 100%. Amongthem, 85.3% of patients had excellent improvement on the spasm intensity scale, while the rest 14.7%of patients had moderate improvement. The beneficial effect began at the 4 h to 3days after the injection,and the duration of beneficial effects was 12~30 weeks. Only local side effects appeared in some pa-tients, but it was mild and reversible. Conclusion: Botulinum toxin A injection is an effective, safe andsimple therapeutic method for patients with hemifacial spasm and blepharospasm, and may be consideredas the first choice for the treatment of patients with hemifacial spasm and blepharospasm.%目的:探讨A型肉毒杆菌毒素治疗面肌痉挛和睑肌痉挛的效果。方法:应用A型肉毒杆菌毒素局部肌肉注射治疗共68例,药物浓度为0.1~0.2mg/ml(25~50 U/mL)。结果:有效率为100%,其中完全缓解85.3%,明显缓解及部分缓解14.7%,显效时间4 h~3 d,作用持续时间12~30周。无过敏和全身中毒反应。局部副作用轻微、可逆。结论:A型肉毒杆菌毒素治疗面肌痉挛和睑肌痉挛安全、简便,有效,可作为治疗面肌痉挛和睑肌痉挛的首选药物。

  6. Optic atrophy, necrotizing anterior scleritis and keratitis presenting in association with Streptococcal Toxic Shock Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Papageorgiou Konstantinos I

    2008-02-01

    Full Text Available Abstract Introduction We report a case of optic atrophy, necrotizing anterior scleritis and keratitis presenting in a patient with Streptococcal Toxic Shock Syndrome. Case presentation A 43-year-old woman developed streptococcal toxic shock syndrome secondary to septic arthritis of her right ankle. Streptococcus pyogenes (b-haemolyticus Group A was isolated from blood cultures and joint aspirate. She was referred for ophthalmology review as her right eye became injected and the pupil had become unresponsive to light whilst she was in the Intensive Therapy Unit (ITU. The iris appeared atrophic and was mid-dilated with no direct or consensual response to light. Three zones of sub-epithelial opacification where noted in the cornea. There where extensive posterior synechiae. Indirect ophthalmoscopy showed a pale right disc. The vision was reduced to hand movements (HM. A diagnosis of optic atrophy was made secondary to post-streptococcal uveitis. She subsequently developed a necrotizing anterior scleritis. Conclusion This case illustrates a previously unreported association of optic atrophy, necrotizing anterior scleritis and keratitis in a patient with post-streptococcal uveitis. This patient had developed Streptococcal Toxic Shock Syndrome secondary to septic arthritis. We recommend increased awareness of the potential risks of these patients developing severe ocular involvement.

  7. Mandibular distraction: evolution of treatment protocols in hemifacial microsomy.

    Science.gov (United States)

    Cascone, P; Gennaro, P; Spuntarelli, G; Iannetti, G

    2005-07-01

    Osteodistraction is currently used in those disorders presenting with osseus tissue deficit, excellent results having been obtained in the craniofacial complex. The factors contributing to the success of this procedure are a thin layer of subcutaneous tissue, minimum movement of the cutis, good vascularization of the soft tissues, and the good healing that ensues. The good plastic effects on the soft tissues and the possibility of constantly modulating the strength and monitoring the results have led to distraction osteogenesis gaining increasing consensus in the treatment of congenital and acquired deformities and in some selected cases, for the treatment of osseous deficits caused by trauma, postsurgical outcomes, or even severe alveolar deficits. Furthermore, in the last few years, this surgical technique has been successfully used in the treatment of pediatric deformities such as hemifacial microsomia, some severe class II skeletal deformities, and some syndromic cases, such as the treatment of temporomandibular ankylosis outcomes. In our opinion, guidelines in the indications for distraction are mandatory to select the procedure best suited to the pathologic situation of each individual patient.

  8. Revisiting the link between hypertension and hemifacial spasm.

    Science.gov (United States)

    Leong, Jia-Li; Li, Hui-Hua; Chan, Ling-Ling; Tan, Eng-King

    2016-02-19

    The relationship between hypertension and hemifacial spasm (HFS) has been debated. Microvascular decompression surgery is effective in some HFS patients with uncontrolled hypertension. To address current gaps in knowledge, we conducted a meta-analysis of case-control studies that have examined the prevalence of hypertension in HFS patients compared to non-HFS controls. We also evaluated the implications and limitations of the pooled studies. We identified 62 studies from PubMed, The Cochrane Library, Web of Science and Scholar.google.com and six studies that fit our inclusion criteria were included. A random-effects model was used to derive the pooled estimate of the Odds Ratio. The data was plotted on a Forest plot. A pooled analysis involving 51585 subjects, 549 cases, 720 neurological controls and 50316 controls from the general population, showed that HFS patients had a higher chance of developing hypertension (OR = 1.72, 95% CI = (1.12, 2.31), p-value  <0.001). The prevalence of hypertension was higher in HFS patients as compared to non-HFS patients. This meta-analysis highlights a positive correlation between hypertension and HFS. Blood pressure should be closely monitored during the follow-up of HFS patients. Preliminary links between ventrolateral medullary (VLM) compression and HFS should be further evaluated in future studies.

  9. Pattern of inner retinal layers involvement in pigmented paravenous retinochoroidal atrophy as determined by SD-OCT: case report.

    Science.gov (United States)

    Junqueira, Daniela Laura Melo; Lopes, Flavio Siqueira Santos; Biteli, Luís Gustavo; Prata, Tiago Santos

    2013-01-01

    Pigmented paravenous retinochoroidal atrophy is an ocular disease characterized by outer retina and choroidal atrophy often with overlying intraretinal bone spicule pigment deposition along the retinal veins. As a rare condition, there is scant information in the literature regarding the pattern of inner retinal layers involvement. We present a case of a 41-year-old white man initially referred for a glaucoma evaluation. Fundoscopy revealed patches of retinochoroidal atrophy and light pigmentation extending from the optic nerve head along the inferior-temporal retinal veins in both eyes. Using different spectral-domain optical coherence tomography (SD-OCT) protocols we identified a significant thinning of the inner retinal layers along the inferior-temporal veins, but with a lucid interval surrounding the optic nerve head. Standard automated perimetry revealed a superior absolute arcuate scotoma sparing the central fixation (good structure-functional correlation). This pattern of inner retinal layers involvement was not previously described. We believe SD-OCT added significantly to the anatomical description of this case. Physicians should consider these new anatomical findings and correlate them with functional status while assessing these patients.

  10. Pattern of inner retinal layers involvement in pigmented paravenous retinochoroidal atrophy as determined by SD-OCT: case report

    Directory of Open Access Journals (Sweden)

    Daniela Laura Melo Junqueira

    2013-12-01

    Full Text Available Pigmented paravenous retinochoroidal atrophy is an ocular disease characterized by outer retina and choroidal atrophy often with overlying intraretinal bone spicule pigment deposition along the retinal veins. As a rare condition, there is scant information in the literature regarding the pattern of inner retinal layers involvement. We present a case of a 41-year-old white man initially referred for a glaucoma evaluation. Fundoscopy revealed patches of retinochoroidal atrophy and light pigmentation extending from the optic nerve head along the inferior-temporal retinal veins in both eyes. Using different spectral-domain optical coherence tomography (SD-OCT protocols we identified a significant thinning of the inner retinal layers along the inferior-temporal veins, but with a lucid interval surrounding the optic nerve head. Standard automated perimetry revealed a superior absolute arcuate scotoma sparing the central fixation (good structure-functional correlation. This pattern of inner retinal layers involvement was not previously described. We believe SD-OCT added significantly to the anatomical description of this case. Physicians should consider these new anatomical findings and correlate them with functional status while assessing these patients.

  11. Recognition and Management of Offending Vessels in the Treatment of Hemifacial Spasm with Microvascular Decompression: Analysis of 78 Cases%微血管减压术治疗半面痉挛时责任血管的辨别和处理

    Institute of Scientific and Technical Information of China (English)

    付勇强; 涂锦泉; 韦名然; 周利; 樊晓军

    2012-01-01

    Objective To analyze the anatomical relationship between the offending vessels and the facial nerve in hemifacial spasm ( HFS ) and to provide anatomical basis for microvascular decompression ( MVD ) in patients with HFS. Methods The clinical data of 78 patients with HFS treated with MVD were analyzed retrospectively to find out whether the offending vessels existed or not and their origin and running course, and to summarize the efficacy of microvascular decompression on hemifacial spasm. Results There were offending vessels in 77 patients ( 98. 72% ) out of the 78 patients with HFS, including 39 cases ( 50. 00% ) of anterior inferior cerebellar artery ( AICA ), 21 cases ( 26. 93% ) of posterior inferior cerebellar artery ( PICA ), 10 cases ( 12. 82% ) of AICA and PICA, 3 cases ( 3. 85% ) of PICA and vertebral artery ( VA ), 2 cases ( 2. 56% ) of AICA and VA, and 2 cases ( 2. 56% ) of AICA, PICA and VA. 1 case ( 1. 28% ) had no offending vessels. The spasm disappeared immediately after the operation in 72 patients, and the symptoms of spam improved significantly in 5 patients, who were cured in three to six months. Conclusion Vascular compression may be the main cause of HFS, and the operation of MVD for HFS could achieve satisfactory efficacy. Exposing REZ during operation, accurately identifying the offending vessels, fully decompressing of REZ, the size of graft and the location of graft are important factors influencing surgical efficacy.%目的 分析半面痉挛(hemifacial spasm,HFS)患者颅内责任血管与面神经之间的解剖关系,为HFS微血管减压术(microvascular decompression,MVD)治疗提供临床解剖学依据.方法 回顾性分析78例经MVD治疗的HFS患者的临床资料,了解面神经受压迫是否存在责任血管及其来源与走向,并总结MVD治疗HFS的效果.结果 78例HFS患者中77例(98.72%)存在责任血管压迫,责任血管类型分别为小脑前下动脉(AICA)39例(50.00%),小脑后下动脉(PICA)21例(26

  12. Hemifacial Spasm Associated with Contralateral Foramen Magnum Meningioma.

    Science.gov (United States)

    Matsuda, Masahide; Akutsu, Hiroyoshi; Yamamoto, Tetsuya; Ishikawa, Eiichi; Matsumura, Akira

    2016-05-01

    Hemifacial spasm (HFS) caused by a contralateral tumor is extremely rare, and all previously reported cases involved tumors at the cerebellopontine angle. We provide the first report to our knowledge of HFS caused by a contralateral foramen magnum meningioma, which improved after tumor removal without microvascular decompression. An 80-year-old woman presented with HFS caused by a contralateral foramen magnum meningioma. She had a 3-year history of gradual worsening of right-sided HFS. Magnetic resonance imaging showed a homogeneous gadolinium-enhancing tumor occupying the left ventrolateral portion of the foramen magnum. The loop of the right anterior inferior cerebellar artery extended into the right pontomedullary junction, compressing the root exit zone (REZ) of the right facial nerve. After tumor removal, with no attempt of confirmation of vascular compression of the right facial nerve REZ, facial spasm gradually decreased and eventually almost disappeared. Postoperative magnetic resonance imaging revealed that the loop of anterior inferior cerebellar artery had shifted away from the right facial nerve REZ. Dorsal shift of the anterior inferior cerebellar artery loop toward the facial nerve REZ along with dorsal shift of the vertebral and basilar arteries secondary to the huge contralateral mass located in the ventrolateral portion of the foramen magnum was suggested to represent the main cause of facial spasm. Although an extremely rare condition, facial spasm can develop as a result of contralateral tumors in locations other than the cerebellopontine angle. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Using General Anesthesia plus Muscle Relaxant in a Patient with Spinal Muscular Atrophy Type IV: A Case Report.

    Science.gov (United States)

    Liu, Xiu-Fen; Wang, Dong-Xin; Ma, Daqing

    2011-01-01

    Spinal muscular atrophy (SMA) is a rare genetic disease characterized by degeneration of spinal cord motor neurons, which results in hypotonia and muscle weakness. Patients with type IV SMA often have onset of weakness from adulthood. Anesthetic management is often difficult in these patients as a result of muscle weakness and hypersensitivity to neuromuscular blocking agents as shown by (Lunn and Wang; 2008, Simic; 2008, and Cifuentes-Diaz et al.; 2002). Herein we report a case of anesthetic management of a patient with SMA type IV for mammectomy and review some other cases of SMA patients receiving different kinds of anesthesia.

  14. Efficacy of levetiracetam in primary hemifacial spasm.

    Science.gov (United States)

    Kuroda, Takeshi; Saito, Yu; Fujita, Kazuhisa; Yano, Satoshi; Ishigaki, Seiichiro; Kato, Hirotaka; Murakami, Hidetomo; Ono, Kenjiro

    2016-12-01

    Hemifacial spasm (HFS) is a peripherally-induced movement disorder characterized by the involuntary, unilateral, intermittent, irregular, tonic or clonic contractions of muscles innervated by the ipsilateral facial nerve. Kindling-like hyperactivity of the facial nucleus induced by constant stimulation of compressing artery is considered as the predominant mechanism underlying the pathogenesis of HFS. As a treatment for HFS, microsurgical decompression and botulinum toxin injection have been shown to be highly successful. Anticonvulsant drugs relieve HFS in some patients; however, the use of such drugs is limited owing to their side effects, predominantly in elderly patients. We experienced two elderly HFS patients who exhibited a marked response to levetiracetam (LEV) without side effects. Although the exact underlying pharmacological mechanism remains unknown, we assume anti-kindling effect as one of the important pharmacological mechanism underlying the effect of LEV against HFS. Moreover, LEV is considered to be suitable for use in elderly patients because of its good tolerability. In addition, the lack of hepatic induction or inhibition makes it an easy and safe drug when used in addition to other anticonvulsants. Although the long-term benefit remains unknown, LEV may represent an alternative treatment for elderly HFS patients who are unable to undergo or decline surgical intervention and/or botulinum toxin injections or are intolerant to other anticonvulsants.

  15. Posterior cortical atrophy - a prototypical case of dementia beginning with visual symptoms: case report

    Directory of Open Access Journals (Sweden)

    Leonardo Ferreira Caixeta

    2013-10-01

    Full Text Available Dementia presenting with prominent higher order visual symptoms may be observed in a range of neurodegenerative conditions and is often challenging to diagnose. We describe a case of progressive dementia presenting with prominent visual cortical symptoms. A 55-year-old, right-handed, woman with early onset of visual impairment not associated with anterior visual pathology, presenting with dyslexia, visual agnosia, Balint's syndrome, and spatial disorientation. Ophthalmologists should consider this condition especially in presenile patients with slowly progressive higher-order visual symptoms. Although described in association with different conditions, it may also occur in Alzheimer disease.

  16. Posterior cortical atrophy--a prototypical case of dementia beginning with visual symptoms: case report.

    Science.gov (United States)

    Caixeta, Leonardo Ferreira; Taleb, Alexandre Chater; Ghini, Bruno Galafassi; Soares, Vânia Lúcia Dias; Caixeta, Victor de Melo; Vargas, Ciro

    2013-10-01

    Dementia presenting with prominent higher order visual symptoms may be observed in a range of neurodegenerative conditions and is often challenging to diagnose. We describe a case of progressive dementia presenting with prominent visual cortical symptoms. A 55-year-old, right-handed, woman with early onset of visual impairment not associated with anterior visual pathology, presenting with dyslexia, visual agnosia, Balint's syndrome, and spatial disorientation. Ophthalmologists should consider this condition especially in presenile patients with slowly progressive higher-order visual symptoms. Although described in association with different conditions, it may also occur in Alzheimer disease.

  17. Isolated and painless infraspinatus atrophy in top-level volleyball players: report of two cases and review of the literature

    Directory of Open Access Journals (Sweden)

    Célia Harumi Tengan

    1993-03-01

    Full Text Available Isolated and painless infraspinatus atrophy and weakness are described in two top-level volleyball players. EMG revealed isolated denervation of the infraspinatus muscle. One athlete continued playing and his clinical features have not changed. The other recovered her muscle bulk and strength after stopping playing. These findings were attributed to intense activity of the shoulder joint, without any direct trauma. On clinical grounds, we did not consider these cases as true examples of entrapment neuropathy. Pathogenesis was related to traction of the distal branch of the suprascapular nerve during the act of reception of the ball («Manchete».

  18. [Multiple system atrophy and Alzheimer's disease: a case report of a rare association of two neuro-degenerative disorders].

    Science.gov (United States)

    Rusina, R; Bourdain, F; Matej, R

    2007-12-01

    Multiple system atrophy (MSA) is a neurodegenerative disorder typically characterised by cerebellar dysfunction, parkinsonism, pyramidal signs and dysautonomy. Cognitive impairement is usually limited to a moderate subcortical dysexecutive syndrom. We report the case of a 62-year-old woman suffering from MSA who progressively developed severe dementia. Neuropathological examination confirmed the diagnosis of definite MSA and also showed histopathological hallmarks of Alzheimer's disease. This association is extremely rare in the literature. Our observation confirmes that franc dementia in MSA should prompt a search for another associated cause and underlines the usefulness of neuropathological verifications in atypical clinical pictures.

  19. Massive degeneration and atrophy of the native heart after heterotopic transplantation: a case report.

    Science.gov (United States)

    Fiorelli, A I; Coelho, G H B; Lima, J L; Lourenço, D D F; Gutierres, P; Bacal, F; Bocchi, E; Dias, R R; Stolf, N A G

    2009-04-01

    Extreme myocardial degeneration leading to advanced stages of cardiomyopathy with extensive atrophy is rarely observed before patients die. However, heterotopic transplantation is a special situation wherein this phenomenon can be observed. The greater part of the failed heart shows recuperation after receiving circulatory assistance by reduction of myocardial work. Herein we have reported an unusual behavior of degenerative cardiomyopathy associated with intense myocardial apoptosis resulting in extreme ventricular atrophy after heterotopic heart transplantation. An 11-year-old girl with end-stage heart failure due to dilated cardiomyopathy of undetermined etiology without pulmonary hypertension underwent heterotopic cardiac transplantation with an undersized (by weight mismatch) donor heart. After 9 years heart failure reappeared due to native heart enlargement leading to allograft compression. The patient underwent native heart replacement leaving her with 2 donor hearts. Despite normal hemodynamic recuperation, the patient experienced massive arterial microemboli which led to death. Pathological studies showed exuberant myocardial degeneration in the native heart with intense atrophy of the muscle and gigantic ventricular enlargement. The left ventricle wall was extremely thin with rarefaction of cardiomyocytes and replacement by fibrosis. The right ventricle showed old extensive thrombosis. In conclusion, this report is not usual as it is not frequent to observe cardiomyopathy with an intense degree of myocardial degeneration and atrophy, because the patient dies earlier. In special situations it is possible that a recipient may have 2 donor hearts with normal hemodynamics. Heterotopic heart transplantation is a surgical alternative in a priority situation offering excellent outcomes; however, the native heart must be removed when there is compromise of the function of the heterotopic allograft.

  20. Rehabilitation and nutritional support for sarcopenic dysphagia and tongue atrophy after glossectomy: A case report.

    Science.gov (United States)

    Hashida, Nao; Shamoto, Hiroshi; Maeda, Keisuke; Wakabayashi, Hidetaka; Suzuki, Motoyuki; Fujii, Takashi

    2017-03-01

    Swallowing dysfunction is related to long-term weight loss and reduced body mass index in patients with head and neck cancer. We describe a 76-y-old woman who had severe sarcopenic dysphagia and atrophy of the reconstructed tongue for 17 mo after subtotal glossectomy due to tongue cancer and lost 14 kg during that period. Upon admission, the patient received diagnoses of malnutrition in the context of social or environmental circumstances with insufficient energy intake, loss of muscle mass, localized fluid accumulation, weight loss, and sarcopenia due to reduced skeletal muscle mass (skeletal muscle index dysphagia rehabilitation to improve sarcopenia, atrophy of the reconstructed tongue, and dysphagia. After 20 mo of treatment, she was considered to be no longer malnourished (11 kg weight gain) and without sarcopenia (skeletal muscle index 4.01 cm(2)/m(2)), and the volume of the reconstructed tongue was increased. Sarcopenia and atrophy of the reconstructed tongue may cause dysphagia after glossectomy due to tongue cancer. Additionally, nutritional support and rehabilitation could improve such dysphagia. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Epidermoid cyst causing hemifacial spasm epidermoid cyst in cerebellopontine angle presenting with hemifacial spasm

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    Murat Alemdar

    2012-01-01

    Full Text Available Hemifacial Spasm (HS occurs idiopathically or secondary to the lesions compressing the root exit zone of the facial nerve symptomatically. Symptomatic HS is generally due to vascular compression. We report on a 23-year-old male with right sided HS for a month. Magnetic resonance imaging (MRI of the brain revealed a well-demarcated epidermoid cyst in the right cerebellopontine cistern. It was hypointense on T1-weighted imaging, hyperintense on T2-weighted imaging without contrast enhancement, hyperintense on DWI, and slightly hypointense on ADC relative to the brain. Although it caused shifting of the pons and medulla to the left side and compression of the right cerebellar peduncles and fourth ventricle, the sole symptom of the patient was HS. Clinicians are advised to request MRI/scan for brainstem lesions from the patients with HS. Epidermoid cysts in cerebellopontine cistern may present with HS as the sole symptom.

  2. Hard and Soft Tissue Management of a Localized Alveolar Ridge Atrophy with Autogenous Sources and Biomaterials: A Challenging Clinical Case

    Science.gov (United States)

    Andreoni, D.

    2016-01-01

    Particularly in the premaxillary area, the stability of hard and soft tissues plays a pivotal role in the success of the rehabilitation from both a functional and aesthetic aspect. The present case report describes the clinical management of a localized alveolar ridge atrophy in the area of the upper right canine associated with a thin gingival biotype with a lack of keratinized tissue. An autogenous bone block harvested from the chin associated with heterologous bone particles was used to replace the missing bone, allowing for a prosthetic driven implant placement. Soft tissues deficiency was corrected by means of a combined epithelialized and subepithelial connective tissue graft. The 3-year clinical and radiological follow-up demonstrated symmetric gingival levels of the upper canines, with physiological peri-implant probing depths and bone loss. Thus, the use of autogenous tissues combined with biomaterials might be considered a reliable technique in case of highly aesthetic demanding cases.

  3. Hard and Soft Tissue Management of a Localized Alveolar Ridge Atrophy with Autogenous Sources and Biomaterials: A Challenging Clinical Case

    Directory of Open Access Journals (Sweden)

    C. Maiorana

    2016-01-01

    Full Text Available Particularly in the premaxillary area, the stability of hard and soft tissues plays a pivotal role in the success of the rehabilitation from both a functional and aesthetic aspect. The present case report describes the clinical management of a localized alveolar ridge atrophy in the area of the upper right canine associated with a thin gingival biotype with a lack of keratinized tissue. An autogenous bone block harvested from the chin associated with heterologous bone particles was used to replace the missing bone, allowing for a prosthetic driven implant placement. Soft tissues deficiency was corrected by means of a combined epithelialized and subepithelial connective tissue graft. The 3-year clinical and radiological follow-up demonstrated symmetric gingival levels of the upper canines, with physiological peri-implant probing depths and bone loss. Thus, the use of autogenous tissues combined with biomaterials might be considered a reliable technique in case of highly aesthetic demanding cases.

  4. Electrophysiologic Investigation During Facial Motor Neuron Suppression in Patients With Hemifacial Spasm: Possible Pathophysiology of Hemifacial Spasm: A Pilot Study

    OpenAIRE

    Choi, Soo In; Kim, Min-Wook; Park, Dong Yoon; Huh, Ryoong; Jang, Dae-Hyun

    2013-01-01

    Objective To evaluate the pathophysiological mechanism of hemifacial spasm (HFS), we performed electrophysiological examinations, such as supraorbital nerve stimulation with orbicularis oris muscle recording and lateral spread tests, after suppressing the patient's central nervous system by administering intravenous diazepam. Methods Six patients with HFS were recruited. Supraorbital nerve stimulation with orbicularis oris muscle recording and the lateral spread test were performed, followed ...

  5. Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series.

    Science.gov (United States)

    Furby, A; Béhin, A; Lefaucheur, J-P; Beauvais, K; Marcorelles, P; Mussini, J-M; Bassez, G; Créange, A; Eymard, B; Pénisson-Besnier, I

    2010-01-01

    Patients with cervical or mediastinal Hodgkin disease (HD) classically underwent chemotherapy plus extended-field radiation therapy. We report six patients who gradually developed severe atrophy and weakness of cervical paraspinal and shoulder girdle muscles 5-30 years after mantle irradiation for HD. Although clinical presentation was uniform, including a dropped head syndrome, electrophysiological and pathological findings were rather heterogeneous. Either neurogenic or myogenic processes may be involved and sometimes combined. We discuss the pathophysiological mechanisms underlying these cervicoscapular motor complications of mantle irradiation in HD.

  6. A Case of Multiple System Atrophy-Cerebellar Type Preceded by Dementia

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    Eun Hye Jang

    2012-10-01

    Full Text Available Multiple system atrophy (MSA is a sporadic, adult-onset disease characterized by progressive degeneration of nervous systems including cerebellar, pyramidal, extrapyramidal, and autonomic system. Although a few recent studies reported that cognitive impairments could occur in patients with MSA, prominent dementia with progressive decline is not a typical clinical manifestation of MSA. In particular, dementia with MSA-cerebellar type is very rare. We have experienced a patient with 2-year history of severe cognitive impairment, who was finally diagnosed as MSA-cerebellar type.

  7. Masticatory muscle defects in hemifacial microsomia: a new embryological concept.

    Science.gov (United States)

    Heude, Eglantine; Rivals, Isabelle; Couly, Gérard; Levi, Giovanni

    2011-08-01

    First arch syndromes correspond to a wide spectrum of human latero-facial congenital anomalies affecting cranial neural crest cells (CNCCs) derivatives of the first pharyngeal arch (PA1). The abnormal traits display variable quantitative expression and are often unilateral. Mandibular skeletal defects are invariably accompanied by hypoplasia or agenesis of masticatory muscles, but no explanation has been proposed for this association. Indeed, during embryonic development, CNCCs give only rise to skeletal components of the head while muscles derive from cephalic myogenic mesodermal cells (CMMCs). Recent studies on animal models have shown that communication between CNCCs and CMMCs is essential for the development of masticatory muscles: genetic lesions affecting only CNCCs can prevent muscularization of the jaws. To evaluate the involvement of CNCC/CMMC interactions in human craniofacial development, we performed a quantitative analysis of masticatory muscle and mandibular bone volumes on craniofacial CT-scans from 8 children, ages 3 months to 16 years, affected by hemifacial microsomia. We found that: (1) in seven patients the masseter muscle is absent in the affected side; (2) the absence of masseter is correlated neither with the age of the patients nor with the volume and shape of the affected ramus; and (3) in all cases the pterygoid and the temporal muscles are either reduced or absent. Our findings suggest that an early developmental event is the origin of the muscular defects in these patients. We propose that the hypoplasia or agenesis of masticatory muscles derives from a defect in the CNCCs/CMMCs communication during early embryonic development. Copyright © 2011 Wiley-Liss, Inc.

  8. Cognition in a multiple system atrophy series of cases from Argentina

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    Emilia Gatto

    2014-10-01

    Full Text Available Cognitive dysfunction may occur in 17-40% of patients with multiple system atrophy (MSA. It has been suggested a milder cognitive impairment in cerebellar (MSA-C than in parkinsonian variant (MSA-P. However, differences in cognitive profiles remain under discussion. Objective To evaluate cognitive features in a series of patients with “probable MSA” from Argentina. Method After informed consent was obtained, an extensive cognitive tests battery was administered. Nine patients (6 MSA-P and 3 MSA-C composed the sample. Results Depression was detected in 43% of patients. Seven patients showed at least one cognitive domain impairment. Temporospatial orientation, visuospatial abilities, executive and attentional functions, episodic memory and language were compromised in MSA-P, while MSA-C dysfunction was restricted to attentional and executive domains. Conclusion Despite the small sample size, our findings could suggest a more widespread cognitive impairment in MSA-P than MSA-C.

  9. Differential diagnostic relevance of high resolution magnetic resonance in patients with possible multiple system atrophy (MSA) - A case report.

    Science.gov (United States)

    Baronica, Koraljka Bacić; Ivkić, Goran; Ozretić, David; Milicević, Goran

    2011-01-01

    Multiple system atrophy (MSA) is sporadic, progressive neurodegenerative disorder characterized clinically by autonomic dysfunction, Parkinsonism (MSA-P), and cerebellar ataxia (MSA-C) in any combination. Parkinsonism is present in the majority of patients (80%). Early in the course of the disease autonomic dysfunctions are present in approximately 40% of patients, while the domination of cerebellar symptoms is present in 20% of all patients. According to second consensus statement on diagnosis of MSA, to make the diagnosis of possible MSA, except Parkinsonism or a cerebellar syndrome, there must be one feature involving autonomic dysfunction plus one other additional that can include findings on history, clinical examination or changes in structural or functional imaging. We present a case of 60-year old male with Parkinsonism and cerebellar symptoms accompanied with signs of autonomic nervous system involvement. Level of autonomic dysfunction was not the level required for the diagnosis of probable MSA. On initially performed 1.5T MRI, the most prominent neurodegenerative feature of brain stem, cerebellum and basal ganglia was atrophy, however features like "hot-cross bun" sign, "slit-like" putaminal rim and middle cerebellar peduncle hyperintensities were detected only after MR imaging on higher resolution (3T) device. Our case points to the possibility that some typical structural changes that can help in diagnostic process may not be clearly visible on 1.5 T MRI devices. In such cases we suggest using 3T MRI device, if feasible, in order to demonstrate findings that may help in establishing the diagnosis of possible MSA.

  10. Bed Rest Muscular Atrophy

    Science.gov (United States)

    Greenleaf, John E.

    2000-01-01

    A major debilitating response from prolonged bed rest (BR) is muscle atrophy, defined as a "decrease in size of a part of tissue after full development has been attained: a wasting away of tissue as from disuse, old age, injury or disease". Part of the complicated mechanism for the dizziness, increased body instability, and exaggerated gait in patients who arise immediately after BR may be a result of not only foot pain, but also of muscular atrophy and associated reduction in lower limb strength. Also, there seems to be a close association between muscle atrophy and bone atrophy. A discussion of many facets of the total BR homeostatic syndrome has been published. The old adage that use determines form which promotes function of bone (Wolff's law) also applies to those people exposed to prolonged BR (without exercise training) in whom muscle atrophy is a consistent finding. An extreme case involved a 16-year-old boy who was ordered to bed by his mother in 1932: after 50 years in bed he had "a lily-white frame with limbs as thin as the legs of a ladder-back chair". These findings emphasize the close relationship between muscle atrophy and bone atrophy. In addition to loss of muscle mass during deconditioning, there is a significant loss of muscle strength and a decrease in protein synthesis. Because the decreases in force (strength) are proportionately greater than those in fiber size or muscle cross-sectional area, other contributory factors must be involved; muscle fiber dehydration may be important.

  11. Bed Rest Muscular Atrophy

    Science.gov (United States)

    Greenleaf, John E.

    2000-01-01

    A major debilitating response from prolonged bed rest (BR) is muscle atrophy, defined as a "decrease in size of a part of tissue after full development has been attained: a wasting away of tissue as from disuse, old age, injury or disease". Part of the complicated mechanism for the dizziness, increased body instability, and exaggerated gait in patients who arise immediately after BR may be a result of not only foot pain, but also of muscular atrophy and associated reduction in lower limb strength. Also, there seems to be a close association between muscle atrophy and bone atrophy. A discussion of many facets of the total BR homeostatic syndrome has been published. The old adage that use determines form which promotes function of bone (Wolff's law) also applies to those people exposed to prolonged BR (without exercise training) in whom muscle atrophy is a consistent finding. An extreme case involved a 16-year-old boy who was ordered to bed by his mother in 1932: after 50 years in bed he had "a lily-white frame with limbs as thin as the legs of a ladder-back chair". These findings emphasize the close relationship between muscle atrophy and bone atrophy. In addition to loss of muscle mass during deconditioning, there is a significant loss of muscle strength and a decrease in protein synthesis. Because the decreases in force (strength) are proportionately greater than those in fiber size or muscle cross-sectional area, other contributory factors must be involved; muscle fiber dehydration may be important.

  12. Use of sugammadex in a patient with progressive muscular atrophy and in a patient with amyotrophic lateral sclerosis: Case report.

    Science.gov (United States)

    Yoo, Jae Hwa; Kim, Soon Im; Park, Sun Young; Jun, Mi Roung; Kim, Yong Eun; Kim, Hyoung June

    2017-06-01

    We herein present 2 cases involving the combination of rocuronium and sugammadex in patients with motor neuron disease. The patients were a 54-year-old man with progressive muscular atrophy who underwent removal of internal fixators in the arm and leg, and a 66-year-old woman with amyotrophic lateral sclerosis who underwent skin grafting in the left lower leg. General anesthesia was induced with propofol, rocuronium, and remifentanil and maintained with desflurane and remifentanil. At the end of the surgical procedure, we administered sugammadex. Three or 4 minutes after administration of sugammadex, the patients began to breathe spontaneously and were extubated without complications. Sugammadex can be used successfully to reverse neuromuscular blockade in patients with motor neuron disease.

  13. Hemifacial microsomia: management of the vertical ramus compartment

    OpenAIRE

    Maurice Yves Mommaerts

    2015-01-01

    Hemifacial microsomia and Goldenhar syndrome pose unique challenges to the craniofacial surgeon. The O.M.E.N.S. classification provides a description of the craniofacial features. For the "M" of O.M.E.N.S. (the mandible), the Pruzansky-Kaban classification provides therapeutic guidelines for joint and face reconstruction. A sequence of standard procedures, including temporomandibular joint reconstruction, facial rotation surgery, gluteal fat grafting, and patient-specific titanium implantatio...

  14. 脊髓性肌萎缩症伴开(牙合)1例%Spinal muscular atrophy with open bite: A case report

    Institute of Scientific and Technical Information of China (English)

    郑闱颖; 林军

    2013-01-01

    Spinal muscular atrophy is one rare type of autosomal recessive disorder.The disease is characterized by the progressive degeneration of spinal cord anterior horn motor neurons and brainstem motor nuclei,which leads to muscle atrophy and paralysis.One case of spinal muscular atrophy with open bite was reported here.%脊髓性肌萎缩症是由于脊髓前角运动神经元和脑干运动神经核变性而导致肌无力、肌萎缩的一种罕见的常染色体隐形遗传疾病.该病临床上极为罕见,本文报道1例脊髓性肌萎缩症伴开(牙合)的病例.

  15. The evolution of alexia in two cases of posterior cortical atrophy.

    Science.gov (United States)

    Catricalà, Eleonora; Rosa, Pasquale A Della; Ortelli, Paola; Ginex, Valeria; Marcone, Alessandra; Perani, Daniela; Cappa, Stefano F

    2011-01-01

    Posterior cortical atrophy (PCA) is an uncommon presentation of Alzheimer's disease (AD), characterised by prevalent anatomo-functional involvement of posterior cortical areas. Accordingly, the main clinical features at onset are disorders of high-order visual processing, such as alexia and impairments of visuo-spatial and visuo-constructional abilities. The clinical features in the early stages of disease are variable, and they have been suggested to stem from prevalent ventral or dorsal brain pathology, and/or asymmetric hemispheric involvement. With disease progression, these differences tend to blur with the increasing severity of neuropsychological dysfunction. We report two PCA patients showing different patterns of reading impairment (respectively, letter-by-letter reading and neglect dyslexia). A follow-up study suggested that the qualitative features of alexia remain distinctive with disease evolution. In addition, single photon emission tomography (SPECT) studies revealed different patterns of hypoperfusion, consistent with the alexia types. A careful reading assessment can provide important insights to the pattern of progression of the disease in patients with PCA up to the late stages of the pathology.

  16. The Evolution of Alexia in Two Cases of Posterior Cortical Atrophy

    Directory of Open Access Journals (Sweden)

    Eleonora Catricalà

    2011-01-01

    Full Text Available Posterior cortical atrophy (PCA is an uncommon presentation of Alzheimer's disease (AD, characterised by prevalent anatomo-functional involvement of posterior cortical areas. Accordingly, the main clinical features at onset are disorders of high-order visual processing, such as alexia and impairments of visuo-spatial and visuo-constructional abilities. The clinical features in the early stages of disease are variable, and they have been suggested to stem from prevalent ventral or dorsal brain pathology, and/or asymmetric hemispheric involvement. With disease progression, these differences tend to blur with the increasing severity of neuropsychological dysfunction. We report two PCA patients showing different patterns of reading impairment (respectively, letter-by-letter reading and neglect dyslexia. A follow-up study suggested that the qualitative features of alexia remain distinctive with disease evolution. In addition, single photon emission tomography (SPECT studies revealed different patterns of hypoperfusion, consistent with the alexia types. A careful reading assessment can provide important insights to the pattern of progression of the disease in patients with PCA up to the late stages of the pathology.

  17. Botulinum Toxin and Muscle Atrophy: A Wanted or Unwanted Effect.

    Science.gov (United States)

    Durand, Paul D; Couto, Rafael A; Isakov, Raymond; Yoo, Donald B; Azizzadeh, Babak; Guyuron, Bahman; Zins, James E

    2016-04-01

    While the facial rejuvenating effect of botulinum toxin type A is well known and widespread, its use in body and facial contouring is less common. We first describe its use for deliberate muscle volume reduction, and then document instances of unanticipated and undesirable muscle atrophy. Finally, we investigate the potential long-term adverse effects of botulinum toxin-induced muscle atrophy. Although the use of botulinum toxin type A in the cosmetic patient has been extensively studied, there are several questions yet to be addressed. Does prolonged botulinum toxin treatment increase its duration of action? What is the mechanism of muscle atrophy and what is the cause of its reversibility once treatment has stopped? We proceed to examine how prolonged chemodenervation with botulinum toxin can increase its duration of effect and potentially contribute to muscle atrophy. Instances of inadvertent botulinum toxin-induced atrophy are also described. These include the "hourglass deformity" secondary to botulinum toxin type A treatment for migraine headaches, and a patient with atrophy of multiple facial muscles from injections for hemifacial spasm. Numerous reports demonstrate that muscle atrophy after botulinum toxin type A treatment occurs and is both reversible and temporary, with current literature supporting the notion that repeated chemodenervation with botulinum toxin likely responsible for both therapeutic and incidental temporary muscle atrophy. Furthermore, duration of response may be increased with subsequent treatments, thus minimizing frequency of reinjection. Practitioners should be aware of the temporary and reversible effect of botulinum toxin-induced muscle atrophy and be prepared to reassure patients on this matter.

  18. Case study: Muscle atrophy and hypertrophy in a premier league soccer player during rehabilitation from ACL injury.

    Science.gov (United States)

    Milsom, Jordan; Barreira, Paulo; Burgess, Darren J; Iqbal, Zafar; Morton, James P

    2014-10-01

    The onset of injury and subsequent period of immobilization and disuse present major challenges to maintenance of skeletal muscle mass and function. Although the characteristics of immobilization-induced muscle atrophy are well documented in laboratory studies, comparable data from elite athletes in free-living conditions are not readily available. We present a 6-month case-study account from a professional soccer player of the English Premier League characterizing rates of muscle atrophy and hypertrophy (as assessed by DXA) during immobilization and rehabilitation after ACL injury. During 8 weeks of inactivity and immobilization, where the athlete adhered to a low carbohydrate-high protein diet, total body mass decreased by 5 kg attributable to 5.8 kg loss and 0.8 kg gain in lean and fat mass, respectively. Changes in whole-body lean mass was attributable to comparable relative decreases in the trunk (12%, 3.8 kg) and immobilized limb (13%, 1.4 kg) whereas the nonimmobilized limb exhibited smaller declines (7%, 0.8 kg). In Weeks 8 to 24, the athlete adhered to a moderate carbohydrate-high protein diet combined with structured resistance and field based training for both the lower and upper-body that resulted in whole-body muscle hypertrophy (varying from 0.5 to 1 kg per week). Regional hypertrophy was particularly pronounced in the trunk and nonimmobilized limb during weeks 8 to 12 (2.6 kg) and 13 to 16 (1.3 kg), respectively, whereas the previously immobilized limb exhibited slower but progressive increases in lean mass from Week 12 to 24 (1.2 kg). The athlete presented after the totality of the injured period with an improved anthropometrical and physical profile.

  19. Clinical features and treatment status of hemifacial spasm in China

    Institute of Scientific and Technical Information of China (English)

    Wang Lin; Hu Xingyue; Dong Hongjuan; Wang Wenzhao; Huang Yue; Jin Lingjing; Luo Yumin

    2014-01-01

    Background Hemifacial spasm (HFS) is a facial nerve disorder characterized by episodic involuntary ipsilateral facial muscle contraction.Information on Chinese patients with HFS has not been well-characterized.This study aimed to evaluate the clinical feature and the treatment status of HFS across China.Methods A cross-sectional study including 1003 primary HFS patients had been carried out in 15 movement disorder clinics in China in 2012.The investigated information was acquired from questionnaires and medical records including demographic data,site of onset,aggravating and relieving factors,treatments prior to the investigation,etc.Results In this study,the ratio of male to female was 1.0:1.8,the mean age at onset was (46.6±11.5) years.About 1.0% patients were bilaterally affected.The most often site of initial onset was the orbicularis oculi muscle.The most often affected sites were orbicularis oculi,zygomatic,and orbicularis oris muscles.Stress/anxiety and relaxation were most often aggravating and relieving factors,respectively; 2.3% patients had family history,28.4% cases were combined with hypertension,and 1.4% patients were with trigeminal neuralgia.Botulinum toxin type A (BTX-A) injection was the most commonly used treatment,followed by acupuncture and oral medication.BTX-A maintained the highest repeat treatment ratio (68.7%),while 98.4% patients gave up acupuncture.The mean latency of BTX-A effect was (5.0±4.7) days,the mean total duration of the effect was (19.5±11.7) weeks,and 95.9% patients developed improvements no worse than moderate in both severity and function.The most common side effect was droopy mouth.Conclusions The onset age of HFS in China is earlier than that in western countries.The most often used two treatments are BTX-A injection and acupuncture,while the latter kept the poor repeat treatment ratio because of dissatisfactory therapeutic effect.

  20. Cognitive impairment in a young marmoset reveals lateral ventriculomegaly and a mild hippocampal atrophy: a case report.

    Science.gov (United States)

    Sadoun, A; Strelnikov, K; Bonté, E; Fonta, C; Girard, P

    2015-11-03

    The number of studies that use the common marmoset (Callithrix jacchus) in various fields of neurosciences is increasing dramatically. In general, animals enter the study when their health status is considered satisfactory on the basis of classical clinical investigations. In behavioral studies, variations of score between individuals are frequently observed, some of them being considered as poor performers or outliers. Experimenters rarely consider the fact that it could be related to some brain anomaly. This raises the important issue of the reliability of such classical behavioral approaches without using complementary imaging, especially in animals lacking striking external clinical signs. Here we report the case of a young marmoset which presented a set of cognitive impairments in two different tasks compared to other age-matched animals. Brain imaging revealed a patent right lateral ventricular enlargement with a mild hippocampal atrophy. This abnormality could explain the cognitive impairments of this animal. Such a case points to the importance of complementing behavioral studies by imaging explorations to avoid experimental bias.

  1. Segmental sandwich osteotomy and tunnel technique for three-dimensional reconstruction of the jaw atrophy: a case report.

    Science.gov (United States)

    Santagata, Mario; Sgaramella, Nicola; Ferrieri, Ivo; Corvo, Giovanni; Tartaro, Gianpaolo; D'Amato, Salvatore

    2017-12-01

    A three-dimensionally favourable mandibular bone crest is desirable to be able to successfully implant placement to meet the aesthetic and functional criteria in the implant-prosthetic rehabilitation. Several surgical procedures have been advocated for bone augmentation of the atrophic mandible, and the sandwich osteotomy is one of these techniques. The aim of the present case report was to assess the suitability of segmental mandibular sandwich osteotomy combined with a tunnel technique of soft tissue. Based on our knowledge, nobody described before the sandwich osteotomy with tunnel technique to improve the healing of the wound and meet the dimensional requirements of preimplant bone augmentation in cases of a severely atrophic mandible. A 59-year-old woman with a severely atrophied right mandible was treated with the sandwich osteotomy technique filled with autologous bone graft harvested by a cortical bone collector from the ramus. Clinical examination revealed that the mandible was edentulous bilaterally from the first molar to the second molar region. Radiographically, atrophy of the mandibular alveolar ridge in the same teeth site was observed. We began to treat the right side. A horizontal osteotomy of the edentulous mandibular bone was then made with a piezoelectric device after tunnel technique of the soft tissue. The segmental mandibular sandwich osteotomy (SMSO) was finished by two (mesial and distal) slightly divergent vertical osteotomies. The entire bone fragment was displaced cranially, and the desirable position was obtained. The gap was filled completely with autologous bone chips harvested from the mandibular ramus through a cortical bone collector. No barrier membranes were used to protect the grafts. The vertical incisions were closing with interruptive suturing of the flaps with a resorbable material. In this way, the suture will not fall on the osteotomy line of the jaw; the result will be a better predictability of soft and hard tissue

  2. Hemifacial microsomia: management of the vertical ramus compartment

    Directory of Open Access Journals (Sweden)

    Maurice Yves Mommaerts

    2015-06-01

    Full Text Available Hemifacial microsomia and Goldenhar syndrome pose unique challenges to the craniofacial surgeon. The O.M.E.N.S. classification provides a description of the craniofacial features. For the "M" of O.M.E.N.S. (the mandible, the Pruzansky-Kaban classification provides therapeutic guidelines for joint and face reconstruction. A sequence of standard procedures, including temporomandibular joint reconstruction, facial rotation surgery, gluteal fat grafting, and patient-specific titanium implantation, each have their intricacies. The author provides his expert opinion, acquired over thirty years of experience, with an emphasis on descriptions of and solutions for ten problematic issues.

  3. Duodenal Villous Atrophy in a TTG-Negative Patient Taking Olmesartan: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Tasha Kulai

    2016-01-01

    Full Text Available Olmesartan, an angiotensin II receptor antagonist used to treat hypertension, is associated with few adverse effects. Here, a case of severe sprue-like enteropathy and acute kidney injury is described in a 68-year-old male taking olmesartan for 3-4 years. He presented to hospital with a five-week history of diarrhea, vomiting, and a 20 lb weight loss. Anti-TTG was negative with a normal IgA. Biopsies of the distal duodenum and duodenal cap revealed marked blunting of the villi with near complete villous atrophy of the biopsies from the bulb. There was an increase in intraepithelial lymphocytes as well as neutrophils in the surface epithelium. The patient’s diarrhea improved upon discontinuation of olmesartan and he returned to his previous weight. Repeat endoscopy four months later demonstrated complete resolution of inflammatory change with normal villous architecture. Long-term olmesartan use is associated with severe sprue-like enteropathy. The mechanism of intestinal injury is unknown. Duodenal biopsy results may mimic other enteropathies such as celiac disease. Physicians should consider medications as potential etiologies of enteropathy.

  4. Blockers of Angiotensin Other Than Olmesartan in Patients with Villous Atrophy: A Nationwide Case-Control Study

    Science.gov (United States)

    Mårild, Karl; Lebwohl, Benjamin; Green, Peter HR; Murray, Joseph A; Ludvigsson, Jonas F

    2015-01-01

    Objective To examine the association between previous use of non-olmesartan angiotensin receptor blockers (ARBs) or any angiotensin-converting enzyme inhibitors (ACEIs) in patients with small-intestinal villous atrophy (VA) as compared with general population matched controls. Patients and methods A case-control study was used to link nationwide histopathology data on 2933 individuals with VA (Marsh grade 3) to the Swedish Prescribed Drug Register to examine the association between use of ACEIs as well as the specific use of ARBs other than olmesartan and subsequent VA. Olmesartan is not available in Sweden and so this exposure was not examined. All individuals with VA were biopsied between July 1st 2005 and January 29th 2008 and matched on age, sex, calendar period of birth and county of residence to 14,571 controls from the general population. Results Use of non-olmesartan ARBs was not associated with VA (Odds ratio (OR) = 0.84; 95 % confidence interval [CI] = 0.64-1.09; P=.19). Neither was VA associated with a prior medication of any ACEIs (OR = 1.08; 95% CI = 0.90-1.30; P=.41). Restricting the analysis to individuals with repeated prescriptions for ACEIs or ARBs revealed only marginally changed risk estimates for VA. Conclusion The lack of association between use of ACEIs and non-olmesartan ARBs and subsequent VA suggests that, in the general population, these medications are not a major risk factor for VA development. PMID:26046408

  5. Morphological changes of skeletal muscle in spinal and bulbar muscular atrophy (SBMA), Kennedy's disease: a case report.

    Science.gov (United States)

    Acewicz, Albert; Wierzba-Bobrowicz, Teresa; Lewandowska, Eliza; Sienkiewicz-Jarosz, Halina; Sulek, Anna; Antczak, Jakub; Rakowicz, Maria; Ryglewicz, Danuta

    2015-01-01

    Spinal and bulbar muscular atrophy (SBMA, Kennedy's disease) is an X-linked recessive disease affecting lower motor neurons. In the present case report, we describe morphological changes in a muscle biopsy obtained from a 62-year-old patient with gynecomastia and with the following neurological symptoms: dysphagia, dysarthria, wasting and fasciculation of the tongue, proximal weakness, fasciculations in the limb muscles, and an absence of all tendon reflexes. Neurogenic alternations were predominantly observed using light and electron microscopy. The angulated atrophic muscle fibers formed bundles. The numerous nuclei were pyknotic or pale, some of them were also ubiquitin positive; they were grouped inside so-called "nuclear sacks". At the ultrastructural level, atrophic muscle fibers revealed disruption and loss of sarcomeres, duplication of Z-line, and rod-like structures. The nuclei, often with irregular shapes, revealed varying degrees of chromatin condensation, from dispersed to highly condensed, like pyknotic nuclei. Occasionally electron-dense inclusions in the nuclei were found. Some myogenic features like hypertrophic muscle fibers and proliferation of connective tissue were also visible. The neurogenic and myogenic pathological changes suggested SBMA, which was confirmed with genetic analysis (trinucleotide CAG (glutamie)-repeat expansion in the androgen-receptor gene).

  6. Sympathetic nerves bridge the cross-transmission in hemifacial spasm.

    Science.gov (United States)

    Zheng, Xuesheng; Hong, Wenyao; Tang, Yinda; Wu, Zhenghai; Shang, Ming; Zhang, Wenchuan; Zhong, Jun; Li, Shiting

    2012-05-23

    The pathophysiologic basis of hemifacial spasm is abnormal cross-transmission between facial nerve fibers. The author hypothesized that the demyelinated facial nerve fibers were connected with the sympathetic nerve fibers on the offending artery wall, and thus the latter function as a bridge in the cross-transmission circuit. This hypothesis was tested using a rat model of hemifacial spasm. A facial muscle response was recorded while the offending artery wall was electrically stimulated. The nerve fibers on the offending artery wall were blocked with lidocaine, or the superior cervical ganglion, which innervates the offending artery, was resected, and meanwhile the abnormal muscle response was monitored and analyzed. A waveform was recorded from the facial muscle when the offending artery wall was stimulated, named as "Z-L response". The latency of Z-L response was different from that of abnormal muscle response. When the nerve fibers on the offending artery wall were blocked by lidocaine, the abnormal muscle response disappeared gradually and recovered in 2h. The abnormal muscle response disappeared permanently after the sympathetic ganglion was resected. Our findings indicate that cross-transmission between the facial nerve fibers is bridged by the nerve fibers on the offending artery wall, probably sympathetic nerve fibers.

  7. An unusual cause of optic atrophy in a child

    Directory of Open Access Journals (Sweden)

    Nishant Kumar

    2014-01-01

    Full Text Available A 13-year-old child presenting with gross visual impairment was diagnosed as a case of optic atrophy. However, radiological investigations revealed osteopetrosis, which, though rare, can result in optic atrophy. The aim of this case report is to highlight this possibility while evaluating cases of optic atrophy in young patients.

  8. Learning about Spinal Muscular Atrophy

    Science.gov (United States)

    ... News Release Fischbeck Group Learning About Spinal Muscular Atrophy What is spinal muscular atrophy? What are the ... for Spinal Muscular Atrophy What is spinal muscular atrophy? Spinal muscular atrophy is a group of inherited ...

  9. An achondroplasic case with foramen magnum stenosis, hydrocephaly, cortical atrophy, respiratory failure and sympathetic dysfunction.

    Science.gov (United States)

    Ozcetin, Mustafa; Arslan, Mehmet Tayip; Karapinar, Bulent

    2012-03-01

    Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness, motor-mental retardation, hydrocephaly, and respiratory disorders. In this pathology, foramen magnum stenosis and accompanying disorders like respiratory depression is well documented. A 2.5 year-old child with the diagnosis of achondroplasia admitted to our clinic with severe respiratory depression, limb weakness, and motor mental retardation as well as sympathetic dysfunction. In radiologic evaluations, severe foramen magnum stenosis was detected. The patient was operated and posterior fossa decompression was accomplished to prevent compression of respiratory centers and neurons. This case is unique with the narrowest foramen magnum reported up to date and the sympathetic dysfunction which is not reported as a complication in achondroplasic patients. The authors review the relevant literature, focusing on the indications for cervicomedullary decompression in infants with achondroplasia.

  10. Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India

    Directory of Open Access Journals (Sweden)

    Surekha Bangal

    2012-12-01

    Full Text Available AbstractGyrate atrophy is a rare metabolic disease with autosomal recessive inheritance pattern characterised by hyperornithinemia and typical ocular findings. This report presents a 17-year-old intellectually challenged girl consulting for a progressive fall of visual acuity with night blindness. Fundus examination showed patches of chorioretinal atrophy with typical scalloped borders and peri vascular pigmentation in the equatorial region. Fundus fluroscein angiography revealed characteristic staining pattern. Other ocular associations included myopia and posterior sub capsular cataract. Progressive systemic proximal myopathy was one of the associated features. Dietary supplementation of vitamin B6 was advised.

  11. Hemifacial Pain and Hemisensory Disturbance Referred from Occipital Neuralgia Caused by Pathological Vascular Contact of the Greater Occipital Nerve

    Science.gov (United States)

    Choi, Jin-gyu

    2017-01-01

    Here we report a unique case of chronic occipital neuralgia caused by pathological vascular contact of the left greater occipital nerve. After 12 months of left-sided, unremitting occipital neuralgia, a hypesthesia and facial pain developed in the left hemiface. The decompression of the left greater occipital nerve from pathological contacts with the occipital artery resulted in immediate relief for hemifacial sensory change and facial pain, as well as chronic occipital neuralgia. Although referral of pain from the stimulation of occipital and cervical structures innervated by upper cervical nerves to the frontal head of V1 trigeminal distribution has been reported, the development of hemifacial sensory change associated with referred trigeminal pain from chronic occipital neuralgia is extremely rare. Chronic continuous and strong afferent input of occipital neuralgia caused by pathological vascular contact with the greater occipital nerve seemed to be associated with sensitization and hypersensitivity of the second-order neurons in the trigeminocervical complex, a population of neurons in the C2 dorsal horn characterized by receiving convergent input from dural and cervical structures. PMID:28331643

  12. Hemifacial Pain and Hemisensory Disturbance Referred from Occipital Neuralgia Caused by Pathological Vascular Contact of the Greater Occipital Nerve

    Directory of Open Access Journals (Sweden)

    Byung-chul Son

    2017-01-01

    Full Text Available Here we report a unique case of chronic occipital neuralgia caused by pathological vascular contact of the left greater occipital nerve. After 12 months of left-sided, unremitting occipital neuralgia, a hypesthesia and facial pain developed in the left hemiface. The decompression of the left greater occipital nerve from pathological contacts with the occipital artery resulted in immediate relief for hemifacial sensory change and facial pain, as well as chronic occipital neuralgia. Although referral of pain from the stimulation of occipital and cervical structures innervated by upper cervical nerves to the frontal head of V1 trigeminal distribution has been reported, the development of hemifacial sensory change associated with referred trigeminal pain from chronic occipital neuralgia is extremely rare. Chronic continuous and strong afferent input of occipital neuralgia caused by pathological vascular contact with the greater occipital nerve seemed to be associated with sensitization and hypersensitivity of the second-order neurons in the trigeminocervical complex, a population of neurons in the C2 dorsal horn characterized by receiving convergent input from dural and cervical structures.

  13. Research and Analysis of CT Images in 100 Cases of Mental Patients of Brain Atrophy%100例精神患者脑萎缩CT图像的分析研究

    Institute of Scientific and Technical Information of China (English)

    潘炳华; 汪爱妩

    2013-01-01

    目的:找出精神患者脑萎缩的特点及其与精神症状的相关性。方法分析100例精神患者脑萎缩和100例正常人脑萎缩的CT图像,从病因、性别、年龄以及脑萎缩发生部位等方面加以对比。结果研究组主要表现为局限性性脑皮质萎缩,青少年开始发病,性别差异不明显。对照组萎缩年龄主要发生在60岁以上的男性,男性的发病率是女性的两倍[5]。萎缩范围主要是脑皮质和脑白质同时萎缩。结论精神患者的脑萎缩程度与精神病史和精神症状成正比。%Objective to find out the mentallpatient brain atrophy and its correlation with psychiatric symptoms. Methods 100 cases of mentallpatients brain atrophy and 100 cases of normallbrain atrophy of CT image,compared from etiology,gender,age and brain atrophy areas. Results the study group mainly for the cortexes of brain atrophy,juvenile onset,gender dif erence.The controllgroup atrophy age occurs mainly in men over the age of 60,the incidence of male was two times of[5] women. Atrophy is mainly cerebrallcortex and white mat er atrophy at. Conclusion the mentallpatient's degree of brain atrophy and spirituallhistory and mentallsymptoms is proportionallto.

  14. Intra-operative neurophysiology during microvascular decompression for hemifacial spasm.

    Science.gov (United States)

    Fernández-Conejero, I; Ulkatan, S; Sen, C; Deletis, V

    2012-01-01

    There is evidence that primary hemifacial spasm (HFS) in the majority of patients is related to a vascular compression of the facial nerve at its root exit zone (REZ). As a consequence, the hyperexcitability of facial nerve generates spasms of the facial muscles. Microvascular decompression (MVD) of the facial nerve near its REZ has been established as an effective treatment of HFS. Intra-operative disappearance of abnormal muscle responses (lateral spread) elicited by stimulating one of the facial nerve branches has been used as a method to predict MVD effectiveness. Other neurophysiologic techniques, such as facial F-wave, blink reflex and facial corticobulbar motor evoked potentials (FCoMEP), are feasible to intra-operatively study changes in excitability of the facial nerve and its nucleus during MVDs. Intra-operative neuromonitoring with the mentioned techniques allows a better understanding of HFS pathophysiology and helps to optimise the MVD.

  15. 补锌治疗萎缩性鼻炎326例疗效分析%Analysis on Treatment Effects of Supplementing Zn to 326 Cases with Atrophy Rhinitis

    Institute of Scientific and Technical Information of China (English)

    高国芬; 刘尚安

    2001-01-01

    326 cases with atrophy rhinitis were treated by supplementing Zn. The results were significant,which indicated that Zn deficiency was related to atrophy rhinitis.%对诊断为萎缩性鼻炎的326例患者给予补锌治疗,收到了显著的疗效,显示萎缩性鼻炎的病因和缺乏微量元素有直接关系。

  16. [Atrophy of the bone marrow].

    Science.gov (United States)

    Dziecioł, J; Kemona, A; Sulik, M; Sulkowski, S; Brykalska, A; Sobaniec-Lotowska, M; Ostapiuk, H

    1990-01-01

    The authors made a quantitative analysis of the active hematopoietic tissue of the bone marrow with particular consideration of its atrophy in the course of various diseases. The material consisted of 407 non-selected autopsy cases. For a morphometric analysis the bone marrow was sampled from the sternum, ala ossis illi and spine. In the quantitative analysis of the active hematopoietic tissue we took into account age groups as quantitative changes appear with age. Atrophy of the bone marrow was in 19.4% of the studied cases. The presence of bone marrow atrophy was found in the course of various diseases, most frequently neoplastic, particularly in patients aged from 50 to 59 years.

  17. Seronegative Intestinal Villous Atrophy: A Diagnostic Challenge

    Directory of Open Access Journals (Sweden)

    Cláudio Martins

    2016-01-01

    Full Text Available Celiac disease is the most important cause of intestinal villous atrophy. Seronegative intestinal villous atrophy, including those that are nonresponsive to a gluten-free diet, is a diagnostic challenge. In these cases, before establishing the diagnosis of seronegative celiac disease, alternative etiologies of atrophic enteropathy should be considered. Recently, a new clinical entity responsible for seronegative villous atrophy was described—olmesartan-induced sprue-like enteropathy. Herein, we report two uncommon cases of atrophic enteropathy in patients with arterial hypertension under olmesartan, who presented with severe chronic diarrhea and significant involuntary weight loss. Further investigation revealed intestinal villous atrophy and intraepithelial lymphocytosis. Celiac disease and other causes of villous atrophy were ruled out. Drug-induced enteropathy was suspected and clinical improvement and histologic recovery were verified after olmesartan withdrawal. These cases highlight the importance for clinicians to maintain a high index of suspicion for olmesartan as a precipitant of sprue-like enteropathy.

  18. Spinal Muscular Atrophy (SMA)

    Science.gov (United States)

    ... Habits for TV, Video Games, and the Internet Spinal Muscular Atrophy (SMA) KidsHealth > For Parents > Spinal Muscular Atrophy (SMA) Print ... treatment for the disease's most troubling symptoms. About SMA Normally, healthy nerve cells in the brain called ...

  19. Optic nerve atrophy

    Science.gov (United States)

    Optic atrophy; Optic neuropathy ... There are many causes of optic atrophy. The most common is poor blood flow. This is called ischemic optic neuropathy. The problem most often affects older adults. The optic ...

  20. Multiple System Atrophy (MSA)

    Science.gov (United States)

    Diseases and Conditions Multiple system atrophy (MSA) By Mayo Clinic Staff Multiple system atrophy (MSA) is a rare neurological disorder that impairs your body's involuntary (autonomic) functions, including blood ...

  1. Application of electrophysiological methods and magnetic resonance tomographic angiography in the differentiation between hemifacial spasm and Meige syndrome.

    Science.gov (United States)

    Huang, Chuyi; Miao, Suhua; Chu, Heling; Muheremu, Aikeremujiang; Wu, Jinting; Zhou, Rongsong; Zuo, Huancong; Ma, Yu

    2016-05-01

    Bilateral hemifacial spasm and Meige syndrome can be easily confused due to their similar clinical manifestation. Here, we aimed to investigate the application of electrophysiological methods and magnetic resonance tomographic angiography (MRTA) in the differentiation between hemifacial spasm and Meige syndrome. 10 patients with bilateral hemifacial spasm and 9 patients with Meige syndrome received electrophysiological monitoring of nerves. There were two males and eight females with bilateral hemifacial spasm, aged 16-58 years with a course of 5-54 months. For the patients with Meige syndrome, there were three males and six females, aged 51-68 years with a course of 12-36 months. All patients received conventional MRTA of the brain blood vessels before decompression. We found that all patients with Meige syndrome showed synchronous contraction of bilateral orbicularis oculi muscles and (or) burst discharge from orbicularis oris muscles in surface electromyography (sEMG). However, those with hemifacial spasm presented with bilaterally asynchronous burst discharge. Electromyography for patients with Meige syndrome did not record abnormal muscle response (AMR), but recorded AMR for those with bilateral hemifacial spasm. The offending vessels were compressed in patients with hemifacial spasm in MRTA, while MRTA results were generally negative for those with Meige syndrome. Combining sEMG and AMR detection in EMG and MRTA, bilateral hemifacial spasm can be differentiated from Meige syndrome with a reduction of misdiagnosis rate.

  2. 多系统萎缩16例临床分析%Clinical Analysis of 16 Cases with Multiple System Atrophy

    Institute of Scientific and Technical Information of China (English)

    朱建明; 刘想林; 高云春; 郭桂香; 徐平

    2013-01-01

    目的:探讨多系统萎缩(MSA)的临床特点、影像学特征,以利于早期诊断,减少误诊率。方法:回顾性分析16例MSA患者临床资料。结果:拟诊MSA 11例,可能MSA 5例,其中橄榄桥脑小脑萎缩(MSA-OPCA)9例,纹状体黑质变性(MSA-SND)4例,Shy-Drager综合征(MSA-SDS)3例,MRI表现上OPCA患者以小脑、脑桥、延髓萎缩为主,SND主要病变在壳核,SDS个别有小脑萎缩。结论:临床表现和MRI结合可提高MSA的诊断率。%Objective:To analyze clinical manifestations and neuroimage for early diagnosis of multiple system atrophy(MSA).Method:Clinical materials of 16 MSA cases were retrospectively analyzed.Result:11 cases were probably diagnosed as MSA,another 5 cases were possible MSA.Among the 16 cases,9 cases were olivopontocerebellar atrophy(OPCA),4 cases striatonigral degeneration(SND),and 3 cases were Shy-Drager syndrome(SDS).MRI showed that main lesion of OPCA were in cerebellum,pons,medulla,SND in putamen. and partial SDS in cerebellum. Conclusion:The diagnostic accordance rate of MSA can be elevated with correlation between clinical manifestations and brain MRI.

  3. Spinal Muscular Atrophy (SMA)

    Science.gov (United States)

    ... Your 1- to 2-Year-Old Spinal Muscular Atrophy (SMA) KidsHealth > For Parents > Spinal Muscular Atrophy (SMA) A A A What's in this article? ... Outlook en español Atrofia muscular espinal Spinal muscular atrophy, or SMA, is an inherited condition that causes ...

  4. Monomelic atrophy.

    Science.gov (United States)

    Oryema, J; Ashby, P; Spiegel, S

    1990-05-01

    Weakness of distal muscles of one upper limb which progresses over 1 year and then appears to arrest ("monomelic amyotrophy") has been reported mainly in Japan and India. We report 5 cases of a similar syndrome occurring in Canada. In our cases the wasting affected the forearm muscles of one upper limb (sparing brachioradialis and extensor carpi radialis). There was minimal wasting and electromyographic changes in the opposite upper limb. The CT myelogram showed unilateral wasting of the cervical cord.

  5. Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series

    Directory of Open Access Journals (Sweden)

    Ueno Hiroki

    2011-12-01

    Full Text Available Abstract Introduction Previous studies have shown widespread multisystem degeneration in patients with sporadic amyotrophic lateral sclerosis who develop a total locked-in state and survive under mechanical ventilation for a prolonged period of time. However, the disease progressions reported in these studies were several years after disease onset. There have been no reports of long-term follow-up with brain imaging of patients with familial amyotrophic lateral sclerosis at an advanced stage of the disease. We report the cases of siblings with amyotrophic lateral sclerosis with homozygous deletions of the exon 5 mutation of the gene encoding optineurin, in whom brain computed tomography scans were followed up for more than 20 years. Case presentation The patients were a Japanese brother and sister. The elder sister was 33 years of age at the onset of disease, which began with muscle weakness of her left lower limb. Two years later she required mechanical ventilation. She became bedridden at the age of 34, and died at the age of 57. A computed tomography scan of her brain at the age of 36 revealed no abnormality. Atrophy of her brain gradually progressed. Ten years after the onset of mechanical ventilation, atrophy of her whole brain, including the cerebral cortex, brain stem and cerebellum, markedly progressed. Her younger brother was 36 years of age at the onset of disease, which presented as muscle weakness of his left upper limb. One year later, he showed dysphagia and dysarthria, and tracheostomy ventilation was performed. He became bedridden at the age of 37 and died at the age of 55. There were no abnormal intracranial findings on brain computed tomography scans obtained at the age of 37 years. At the age of 48 years, computed tomography scans showed marked brain atrophy with ventricular dilatation. Subsequently, atrophy of the whole brain rapidly progressed as in his elder sister. Conclusion We conclude that a homozygous deletion

  6. Quantitative MRI study of progressive cerebral atrophy in multiple system atrophy

    Energy Technology Data Exchange (ETDEWEB)

    Konagaya, Masaaki; Matsuoka, Yukihiko [Suzuka National Hospital, Suzuka, Mie (Japan); Konagaya, Yoko [JR Tokai General Hospital, Nagoya (Japan)

    2002-02-01

    We investigated cerebral atrophy in multiple system atrophy (MSA) by quantitative analysis of MRI. The subjects were 28 patients with MSA (14 striato-nigral degeneration; SND, 14 olivo-ponto-cerebellar atrophy; OPCA. 106 MRI examinations were performed totally) and 85 normal persons for control. The ratios of the ventral pons to the infratentorial space in the sagittal section, the putamen, cerebrum, frontal lobe and parietal and occipital lobes to the intracranial space in the horizontal section, and the temporal lobe to the intracranial space in the coronal section were measured. In the early stage of the disease, OPCA showed significant atrophy of the ventral pons compared with SND, and conversely, SND demonstrated significantly smaller putamen than that in OPCA. According to the progression of the disease, the atrophy of these neural tissues progressed, which resulted in so significant differences between SND and OPCA. The cerebral atrophy was observed in 17 MSA patients. The atrophy of the frontal lobe was much frequent and prominent to that in the temporal lobe and parietal and occipital lobes. SND showed higher incidence of the cerebral atrophy than OPCA in the early stage of the disease. In long period follow-up cases, one case showed cerebral atrophy in earlier stage, and another case in late stage. We indicated the involvement of the cerebral hemispheres in MSA, especially the frontal lobe. (author)

  7. Diagnosis and treatment of hemifacial spasm%半侧面肌痉挛的诊断和治疗

    Institute of Scientific and Technical Information of China (English)

    黄光; 汤晓芙

    2001-01-01

    目的观察半侧面肌痉挛患者的临床表现和肉毒毒素对半侧面肌痉挛的治疗效果。方法对近3年来神经内科门诊诊断的面肌痉挛病人290例进行回顾性研究,使用Cohen's量表对治疗效果进行评估。结果治疗后起效时间是5.4±7.8天,效果持续18.4±6.1周。治疗后完全缓解率达83.8%,明显缓解率达15.2%。30%的患者有副作用,主要是面肌、眼睑无力,眼睑下垂,流泪和眼干及复视,但这是暂时的、可逆的,2周内基本消失。结论 A型肉毒毒素治疗方法简便、易行,是治疗面肌痉挛的首选药物。%Objective To observe clinical feature of patients with hemifacial spasm and therapeutic effect of Chinese botulinum toxin type A.Methods We followed up 29 cases with hemifacial spasm for 3~13 months after treatment and valued the therapeutic effect using Cohen's scales for them.Results 83.8% of the patients had completed remission,15.2% obvious improvement.The effect lasted 18.4±6.1 weeks,30% of the patients had mild unwanted effect including weakness of facial muscles and eyelid、ptosis、eye dry and blurred vision.All have recovered within two weeks.Conclusions Chinese botulinum toxin type A appears an effective and safe treatment for hemifacial spasm.

  8. [A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs].

    Science.gov (United States)

    Shigeto, H; Yamada, T; Kobayashi, T; Goto, I

    1992-07-01

    A 16-year-old boy with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome was reported. He was the second child of first-cousin consanguineous parents. Since childhood, he was mentally retarded and had frequent episodes of vomiting but no unconsciousness attack. Because of progressive gait disturbance since the age of 15, he was admitted to Kyushu University Hospital. Neurological examination revealed mental defect and spastic paraparesis with bilateral positive pathological reflexes. Moreover, severe muscle atrophy and moderate weakness were observed in the distal portion of lower extremities. The diagnosis of HHH syndrome was made by the examination of amino acids in the serum and urine and by the incorporation study of radioactive ornithine into cultured fibroblasts. EMG and nerve biopsy studies suggested that the muscle atrophy seen in this patient was caused by the degeneration of spinal anterior horn cells. Amino acid imbalance, especially elevation of glutamine and glutamic acid in the CSF, may cause dysfunction of neuronal system including anterior horn cells.

  9. Trigemino-facial inhibitory reflexes in idiopathic hemifacial spasm.

    Science.gov (United States)

    Pavesi, Giovanni; Cattaneo, Luigi; Chierici, Elisabetta; Mancia, Domenico

    2003-05-01

    We investigated trigemino-facial excitatory and inhibitory responses in perioral muscles in hemifacial spasm (HFS). We examined 15 patients affected with idiopathic HFS and 8 healthy controls. Five patients had spasms mostly limited to the periocular region and 10 had spasms also involving the perioral muscles. Responses were recorded from the resting orbicularis oculi (OOc), levator labii superioris (LLS) and orbicularis oris (OOr) muscles, after supraorbital (SO) nerve stimulation and during isolated voluntary contraction of LLS muscle. Eight patients showed complete or partial preservation of the late silent period (SP2) in activated LLS muscle. The remaining 7 patients showed absence of SP2. Early and late excitatory responses were variably present in LLS muscle at rest. Patients with HFS clinically restricted to periocular muscles had at least partial preservation of the SP2. In conclusion, in HFS patients inhibitory trigemino-facial reflexes are impaired and excitatory trigemino-facial responses are elicited in perioral muscles. These two phenomena seem to develop independently; the degree of trigemino-facial reflex impairment parallels the extension of involuntary movements to the lower facial muscles.

  10. Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report Aracnodactilia contratural congênita com atrofia muscular espinhal: relato de caso

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    Rosana Herminia Scola

    2001-06-01

    Full Text Available We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA. The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.Relatamos o caso de uma paciente do sexo feminino de 3 anos e 6 meses com hipotonia, contraturas de múltiplas articulações, aracnodactilia, polegares aduzidos, dolicostenomelia e orelhas externas anormais sugerindo o diagnóstico de aracnodactilia contratural congênita (ACC. As enzimas musculares eram normais e a eletromiografia de agulha mostrou desinervação ativa e crônica. A biópsia muscular mostrou desinervação ativa e crônica compatível com atrofia muscular espinhal. A análise dos exons 7 e 8 do gene do survival motor neuron por reação em cadeia de polimerase não mostrou deleções. Atrofia muscular neurogênica é uma nova anormalidade associada a ACC, sugerindo a heterogeneidade clínica da ACC.

  11. Atrophy of type I and II muscle fibers is reversible in the case of grade >2 fatty degeneration of the supraspinatus muscle: an experimental study in rabbits.

    Science.gov (United States)

    Fabis, Jaroslaw; Danilewicz, Marian; Zwierzchowski, Jacek T; Niedzielski, Kryspin

    2016-03-01

    Although clinical investigations indicate that the limit of reversibility of rotator cuff muscles fibers type I and II atrophy is grade 2 of fatty degeneration (FD) according to the Goutallier computed tomography classification, little is known about the morphometric verification of these findings. The supraspinatus tendon was detached from the greater tubercle and the infraspinatus and subscapularis in 12 rabbits, and a 12-week observation period followed. This proved to be sufficient for development of grade >2 FD of the supraspinatus tendon. The tendon was then reinserted. The animals were euthanized 24 weeks after tendon reconstruction. The sections of middle part of supraspinatus were stained for adenosine triphosphatase reaction, and morphometric measurements were taken of type I and II muscle fiber diameters. The contralateral shoulders served as controls. The macroscopic inspection of the supraspinatus tendons revealed complete healing in all cases. No statistically significant differences were found between controls and operated-on shoulders for type I (P = .13) and type II (P = .55) muscle fibers. Atrophy of type I and II muscle fibers in rabbit supraspinatus muscle, characterized by grade >2 fatty degeneration according to the Goutallier computed tomography classification, is reversible after 24 weeks from reattachment of its tendon. A requirement for type I and II muscle fibers hypertrophy is a change in the biomechanical and functional conditions of the muscle after its tendon is reconstructed. Copyright © 2016 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

  12. Análise da ceratometria corneana em pacientes portadores de espasmo hemifacial

    OpenAIRE

    Pereira,Ivana Cardoso; Saraiva,Patrícia Grativol Costa; Saraiva,Fabio Petersen; MEDEIROS, Fabricio Witzel; Miki,Gustavo; Matayoshi,Suzana

    2011-01-01

    OBJETIVO: Determinar a variação da ceratometria em olhos de pacientes portadores de espasmo hemifacial submetidos a tratamento com toxina botulínica. MÉTODOS: Foram incluídos 18 pacientes portadores de espasmo hemifacial que foram submetidos ao exame oftalmológico completo, além da topografia corneana e Orbscan previamente à aplicação de toxina botulínica tipo A e 1 mês após o procedimento. RESULTADOS: Não houve diferença estatisticamente significante entre a ceratometria encontrada pela topo...

  13. Electromyogram and pathological features of adult spinal muscle atrophy:analysis of 46 cases%成人型脊髓性肌萎缩症46例电生理与病理变化

    Institute of Scientific and Technical Information of China (English)

    张平; 何晓军; 陈立晔

    2003-01-01

    AIM: To study the electromyogram and muscular pathological features of adult spinal muscular atrophy(SMA4). METHODS: 46 cases of SMA4 were evaluated based on clinical, histopathology, enzyme histochemistry and ultrastructure. RESULTS: A mean age of the patients with SMA4 was 38.7 years, clinical progressed was slowly. Clinic manifestations mainly appeared proximal muscular weakness and progressive muscular atrophy, and there was a relatively good prognosis. Laboratory found: one-fourth of the disease had elevated serum creatine kinase levels. Eletromyogram revealed neurogenic damages. The muscular pathological changes showed small groups of atrophy of denervation, ATPase reaction showed fibre-type grouping of renervation and hypertrophy in muscle fibers. CONCLUSION: Muscle biopsy was important; it could to help to establish to diagnose the disorder and provided available cases for gene study.

  14. Acute onset of brain atrophy and dementia in a patient with small cell lung cancer: a case report.

    Science.gov (United States)

    Asano, Michiko; Fujimoto, Nobukazu; Gemba, Kenichi; Wada, Sae; Ono, Katsuichiro; Ozaki, Shinji; Adachi, Yoshiaki; Yamamoto, Hiromichi; Kishimoto, Takumi

    2011-03-01

    A 59-year-old man who was diagnosed with small cell lung cancer (SCLC), achieved a complete response to the induction chemoradiotherapy and received prophylactic cranial irradiation (PCI) (25 Gy at 250 cGy per fraction) in October 2008. Three months later, he complained of anorexia, weight loss, fatigue, and short-term memory loss and developed dementia and systemic muscle weakness. Magnetic resonance imaging in April and July 2009 revealed the progression of the diffuse brain atrophy without evidence of the metastasis of SCLC. Paraneoplastic neurological syndrome was suspected because anti-Hu antibody was detected in his serum and cerebrospinal fluid, but the adverse effects of chemotherapy and/or radiotherapy were also suspected as the cause of his neurological disorder.

  15. Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Sakoe Kumi

    2010-04-01

    Full Text Available Abstract Background Alexander disease (ALX is a rare neurological disorder characterized by white matter degeneration and cytoplasmic inclusions in astrocytes called Rosenthal fibers, labeled by antibodies against glial fibrillary acidic protein (GFAP. Three subtypes are distinguished according to age at onset: infantile (under age 2, juvenile (age 2 to 12 and adult (over age 12. Following the identification of heterozygous mutations in GFAP that cause this disease, cases of adult-onset ALX have been increasingly reported. Case Presentation We present a 60-year-old Japanese man with an unremarkable past and no family history of ALX. After head trauma in a traffic accident at the age of 46, his character changed, and dementia and dysarthria developed, but he remained independent. Spastic paresis and dysphagia were observed at age 57 and 59, respectively, and worsened progressively. Neurological examination at the age of 60 revealed dementia, pseudobulbar palsy, left-side predominant spastic tetraparesis, axial rigidity, bradykinesia and gaze-evoked nystagmus. Brain MRI showed tadpole-like atrophy of the brainstem, caused by marked atrophy of the medulla oblongata, cervical spinal cord and midbrain tegmentum, with an intact pontine base. Analysis of the GFAP gene revealed a heterozygous missense mutation, c.827G>T, p.R276L, which was already shown to be pathogenic in a case of pathologically proven hereditary adult-onset ALX. Conclusion The typical tadpole-like appearance of the brainstem is strongly suggestive of adult-onset ALX, and should lead to a genetic investigation of the GFAP gene. The unusual feature of this patient is the symmetrical involvement of the basal ganglia, which is rarely observed in the adult form of the disease. More patients must be examined to confirm, clinically and neuroradiologically, extrapyramidal involvement of the basal ganglia in adult-onset ALX.

  16. Preserved Glucose Metabolism of Deep Cerebellar Nuclei in a Case of Multiple System Atrophy with Predominant Cerebellar Ataxia: F-18 Fluorodeoxyglucose Positron Emission Tomography Study

    Directory of Open Access Journals (Sweden)

    Oh Dae Kwon

    2010-10-01

    Full Text Available The cerebellar glucose metabolism of multiple system atrophy with predominant cerebellar ataxia (MSA-C is known to be decreased but is not defined among areas of cerebellum. We encountered a 54-year-old man who developed dizziness and progressive ataxia followed by urinary incontinence and orthostatic hypotension, all of those symptoms progressed relentlessly and the symptoms responded poorly to levodopa therapy. Visual analysis and statistical parametric mapping analysis of F-18 fluorodeoxyglucose positron emission tomography showed hypometabolism of both cerebellar hemisphere, severe at cortical area, and pons. There was clear sparing of deep cerebellar nuclei. Our report, as we know, shows the first case of preserved glucose metabolism of deep cerebellar nuclei relative to cerebellar cortex in an MSA-C patient.

  17. Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies

    Institute of Scientific and Technical Information of China (English)

    Oivi Uibo; Kaupo Teesalu; Kaja Metsküla; Tiia Reimand; Riste Saat; Tarvo Sillat; Koit Reimand; Tiina Talvik; Raivo Uibo

    2006-01-01

    AIM: To investigate the prevalence of celiac disease (CD) as well as CD marker antibodies and susceptibility HLA-DQ haplotypes in 134 karyotyped Down's syndrome (DS) patients.METHODS: Immunoglobulin A (IgA) and G (IgG)type anti-gliadin antibodies (AGA), IgA type anti-tissue transglutaminase (tTG) antibodies (anti-tTG) with antigen of guinea pig and human source were determined by enzyme-linked immunosorbent assay and endomysium antibodies (EMA) by indirect immunofluoresence test.HLA-DQA1*0501/DQB1*0201 (DQ2) was revealed by polymerase chain reaction. Celiac disease was diagnosed by revised ESPGHAN criteria.RESULTS: 41% of DS patients had AGA, 6.0% IgAanti-tTG with guinea pig antigen, and 3.0 % IgA EMA (all positive for anti-tTG with human tTG). Subtotal villous atrophy was found in 5 out of 9 DS patients who had agreed to small bowel biopsy. One of them had DQA1*0501/DQB1*0201 and anti-tTG and EMA i.e. typical for CD markers (this case also fulfilled the ESPGHAN diagnostic criteria), but other four lacked these markers. Three non-biopsied DS patients had also most probably CD because DQA1*0501/DQB1*0201 and IgA anti-tTG (EMA) were detected. Thus, the prevalence of CD among our DS patients population is 3.0 % (95 %of confidence interval [CI]: 0.1-5.9 %).CONCLUSION: We confirm the increased frequency of CD among DS patients. In addition, we have revealed a subgroup of patients with subtotal villous atrophy but without characteristic for CD immunological and genetic markers. Whether these cases represent CD (with atypical immunopathogenesis) or some other immune enteropathy, requires further investigations.

  18. Hemifacial spasm and postural abnormalities; clinical and posturographical analyses.

    Science.gov (United States)

    Degirmenci, Eylem; Oguzhanoglu, Attila; Atalay, Nilgun; Sahin, Fusun

    2015-09-01

    Hemifacial spasm (HFS) is defined as an involuntary, irregular clonic, or tonic movement of muscles innervated by the ipsilateral seventh cranial nerve. It is reported that the coexistence of non-motor- and motor-related symptoms can be seen in patients with HFS. Postural disturbances were investigated in some movement disorders; however, postural abnormalities due to HFS had not been reported before. In this study, we aimed to investigate the postural abnormalities in patients with HFS. In this cross-sectional, controlled study, Tinetti Balance and Gait Test (TBGT) scores and static posturography were performed on fifteen patients with HFS and fifteen healthy age- and sex-matched controls. The total TBGT score and TBGT-balance score were found to be significantly lower in the patient group than in the control group (p values were, respectively, 0.046 and 0.011). The ratio of the patients with high risk of falling was 40 %, and the difference was found to be significantly higher in the patient group (p value = 0.008). In Fourier analyses, a significant difference was found in the medium to high frequencies (F5-6) when the posturographic evaluation was performed on a solid ground with closed eyes, head rotated to right, and head rotated to the left positions (p values were, respectively, 0.045 and 0.007). The stability index of the HFS group was significantly higher than the control group when tested on the neutral, head right, and head left positions (p values were, respectively, 0.004, 0.049, and 0.003). In conclusion, our study showed that the patients with HFS have more balance and falling problems than the controls, which can be both clinically and posturographically determined.

  19. [Pre-surgical simulation of microvascular decompression for hemifacial spasm using 3D-models].

    Science.gov (United States)

    Mashiko, Toshihiro; Yang, Qiang; Kaneko, Naoki; Konno, Takehiko; Yamaguchi, Takashi; Watanabe, Eiju

    2015-01-01

    We have been performing pre-surgical simulations using custom-built patient-specific 3D-models. Here we report the advantageous use of 3D-models for simulating microvascular decompression(MVD)for hemifacial spasms. Seven cases of MVD surgery were performed. Two types of 3D-printers were used to fabricate the 3D-models:one using plaster as the modeling material(Z Printer®450, 3D systems, Rock Hill, SC, USA)and the other using acrylonitrile butadiene styrene(ABS)(UP! Plus 3D printer®, Beijing Tiertime Technology, Beijing). We tested three types of models. Type 1 was a plaster model of the brainstem, cerebellum, facial nerve, and the artery compressing the root exit zone of the facial nerve. Part of the cerebellum was digitally trimmed off to observe "the compressing point" from the same angle as that used during actual surgery. Type 2 was a modified Type 1 in which part of the skull was opened digitally to mimic a craniectomy. Type 3 was a combined model in which the cerebellum and the artery of the Type 2 model were replaced by a soft retractable cerebellum and an elastic artery. The cerebellum was made from polyurethane and cast from a plaster prototype. To fabricate elastic arteries, liquid silicone was painted onto the surface of an ABS artery and the inner ABS model was dissolved away using solvent. In all cases, the 3D-models were very useful. Although each type has advantages, the Type-3 model was judged extremely useful for training junior surgeons in microsurgical approaches.

  20. EXPRESSION OF CALCITONIN GENE-RELATED PEPTIDE IN FACIAL NERVE OF HEMIFACIAL SPASM

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    Objective To study the immunoreactivity of Calcitonin gene-related peptide (CGRP) in the facial nerve when Hemifacial Spasm is occurring. Methods The electrophysiological technique was used to explore abnormal muscle response (AMR) which was characteristic of Hemifacial Spasm.The animal models of Hemifacial Spasm in New Zealand white rabbits were established by compressing the main trunk of artificial demyelinated facial nerve with the temporal superficial artery. At 6 weeks after surgery, the facial nerves were taken from the experimental group and control one, the immunohistochemistry for CGRP using polyclonal antibody with ABC kit was performed in the facial nerves; at the same time, the observation for the facial nerves of light and transmission electron microscope was performed. Results The facial nerve demyelinated and the axons retrogressively changed, CGRP immunoreactive positive fibers were significantly detected in experimental groups; whereas this phenomenon was not found in control group. Conclusion CGRP can nutrien the injured facial nerve and plays an important role in the pathogenesis of Hemifacial Spasm.

  1. Comparison between full face and hemifacial CBCT cephalograms in clinically symmetrical patients: a pilot study

    Directory of Open Access Journals (Sweden)

    Cintia Helena Zingaretti Junqueira

    2015-04-01

    Full Text Available INTRODUCTION: One of the advantages of cone-beam computed tomography (CBCT is the possibility of obtaining images of conventional lateral cephalograms derived from partial or complete reconstruction of facial images. OBJECTIVE: This study aimed at comparing full face, right and left hemifacial CBCT cephalograms of orthodontic patients without clinical facial asymmetry. METHODS: The sample comprised nine clinically symmetrical patients who had pretreament full face CBCT. The CBCTs were reconstructed so as to obtain full face, right and left hemifacial cephalograms. Two observers, at two different times, obtained linear and angular measurements for the images using Dolphin 3D software. Dependent and independent t-tests were used to assess the reproducibility of measurements. Analysis of Variance and Kruskal-Wallis tests were used to compare the variables obtained in the CBCT derived cephalometric views. RESULTS: There was good reproducibility for CBCT scans and no statistically significant differences between measurements of full face, right and left hemifacial CBCT scans. CONCLUSIONS: Cephalometric measurements in full face, right and left hemifacial CBCT scans in clinically symmetrical patients are similar.

  2. Comparison between full face and hemifacial CBCT cephalograms in clinically symmetrical patients: a pilot study.

    Science.gov (United States)

    Junqueira, Cintia Helena Zingaretti; Janson, Guilherme; Junqueira, Marisa Helena Zingaretti; Mendes, Lucas Marzullo; Favilla, Eduardo Esberard; Garib, Daniela Gamba

    2015-01-01

    One of the advantages of cone-beam computed tomography (CBCT) is the possibility of obtaining images of conventional lateral cephalograms derived from partial or complete reconstruction of facial images. This study aimed at comparing full face, right and left hemifacial CBCT cephalograms of orthodontic patients without clinical facial asymmetry. The sample comprised nine clinically symmetrical patients who had pretreatment full face CBCT. The CBCTs were reconstructed so as to obtain full face, right and left hemifacial cephalograms. Two observers, at two different times, obtained linear and angular measurements for the images using Dolphin 3D software. Dependent and independent t-tests were used to assess the reproducibility of measurements. Analysis of Variance and Kruskal-Wallis tests were used to compare the variables obtained in the CBCT derived cephalometric views. There was good reproducibility for CBCT scans and no statistically significant differences between measurements of full face, right and left hemifacial CBCT scans. Cephalometric measurements in full face, right and left hemifacial CBCT scans in clinically symmetrical patients are similar.

  3. Hemifacial spasm in a patient with basilar artery dolichoectasia caused by uncontrolled hypertension

    Directory of Open Access Journals (Sweden)

    Gordon S. Crabtree

    2016-10-01

    Full Text Available A 47-year-old male presented with a 2-year history of hemifacial spasm. Magnetic resonance imaging performed showed his tortuous basilar artery with nerve compression, and the patient was treated conservatively with botulinum toxin injections with complete resolution of symptoms. This rare disease was caused by his long history of hypertension, which led to his major basilar artery dolichoectasia.

  4. Hemifacial spasm : Intraoperative electromyographic monitoring as a guide for microvascular decompression

    NARCIS (Netherlands)

    Mooij, JJA; Mustafa, MK; van Weerden, TW

    2001-01-01

    OBJECTIVE: Microvascular decompression is the logical and well-accepted treatment of choice for hemifacial spasm (HFS). In experienced hands, good to excellent results can be obtained. However, sometimes the exact site of the vascular compression is unclear. The aim of this study was to analyze whet

  5. Muscular reconstruction to improve the deterioration of facial appearance and speech caused by mandibular atrophy: technique and case reports.

    Science.gov (United States)

    Bosker, H; Wardle, M L

    1999-08-01

    One of the consequences of severe mandibular atrophy is the loss of attachment of the facial muscles that originate from the alveolar process and basal bone. Another is a loss of vestibular depth and reduction in the width of the attached gingiva. The result is reduced ability to chew, a changed and aged appearance, difficulties with pronunciation, and a reduced range of expressions. The traditional goal of treatment has been to improve the ability to chew. We describe a technique by which all these functions can be improved by a combination of insertion of implants and functional reconstruction of the facial muscles and position of the lips. When the muscles are repositioned, the buccal vestibule is deepened, and the incidence of gingival hyperplasia and infrabony pockets along the posts is eliminated. This treatment, which also rejuvenates the face and improves the ability to speak, should help to overcome the loss of self-confidence and self-esteem of these patients by improving their quality of life.

  6. Plasma Homocysteine, Vitamin B12 and Folate Levels in Multiple System Atrophy: A Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Shuyu Zhang

    Full Text Available Multiple system atrophy (MSA is a neurodegenerative disease, and its pathological hallmark is the accumulation of α-synuclein proteins. Homocysteine (Hcy is an intermediate amino acid generated during the metabolism of methionine. Hcy may contribute to the pathogenesis of neurodegenerative disorders. Vitamin B12 and folate are cofactors necessary for the methylation of homocysteine.This study compared the levels of serum Hcy, vitamin B12 and folate in patients with MSA with those in healthy people to reveal the possible association between MSA and plasma levels of Hcy, vitamin B12 and folate. We enrolled 161 patients with MSA and 161 healthy people in this study. The association between MSA and the levels of Hcy, vitamin B12 and folate were analyzed using binary logistic regression.The mean level of Hcy in patients with MSA was significantly higher than that in healthy controls (16.23 ± 8.09 umol/l vs 14.04 ± 4.25 umol/l, p < 0.05. After adjusting for age, sex and medical history, the odds ratio for Hcy was 1.07 (95% CI = 1.01-1.13, p < 0.05 for patients with MSA. Vitamin B12 and folate levels were not significantly different between patients with MSA and controls.Our data suggest that higher levels of Hcy may be associated with an increased risk for MSA.

  7. A Clinical review of thirteen cases of atrophie blanche%白色萎缩13例临床分析

    Institute of Scientific and Technical Information of China (English)

    叶庭路; 陆春; 钟绮丽; 于波; 顾有守; 潘慧清

    2012-01-01

    Objective: To promote the understanding of atrophie blanche and improve the diagnosis and treatment. Methods: Thirteen cases of atrophie blanche were retrospectively studied, by reviewing the clinical manifestations, laboratory examination results, therapeutic regimens and the follow-up data. Results: The symptoms of all the patients, most of them were young female, were more severe in the summer than those in the winter. The main skin lesions were red or mauve macules, patches, papules, or vesicles on both lower limbs, especially on the ankles and dorsa of the feet, which gradually became ulcerated, exudative and crusted. These lesions eventually became ivory atrophie scars, surrounded by telangiectasia or small glomus tumor-like appearance. Livedo reticularis on the lower extremities were seen in some patients. There were no specific laboratory findings. The histopathology of the skin specimens were consistent with the changes of livedo vasculitis. The patients were effectively treated with oral danazol, dipyridamole, low dose of aspirin, or DANSHEN dripping pills, and topical application of sodium heparin cream or mucopolysaccharide polysulfate cream. But the relapses were seen in most cases after stopping of the treatment. Conclusion: The diagnosis of atrophie blanche is mainly based on clinical manifestations and histopathologic findings. The remission could be successfully achieved by the medications but the relapses are often seen.%目的:提高对白色萎缩的临床认识,探讨其诊治方法.方法:回顾分析13例白色萎缩患者的临床表现、实验室检查、治疗及随访情况.结果:患者以青年女性居多,病情夏重冬轻.主要表现为双下肢,尤其双踝关节及足背部对称性红色或紫红色斑疹、斑片、丘疹及水疱,逐渐出现溃疡、渗出物及结痂,愈后遗留象牙白色萎缩性瘢痕,周围有毛细血管扩张和(或)形成小血管球瘤样外观.部分患者双下肢还有网状青斑样改变.实

  8. Nonsurgical treatment of hemifacial microsomia by therapeutic ultrasound and hybrid functional appliance

    Directory of Open Access Journals (Sweden)

    Tarek El-Bialy

    2010-03-01

    Full Text Available Tarek El-Bialy1, Ali Hasan2, Ahmad Janadas3, Tarik Albaghdadi41Division of Orthodontics, Department of Dentistry, University of Alberta, Edmonton, Alberta, Canada; 2Division of Orthodontics, Department of Preventive Dental Sciences, Faculty of Dentistry; 3Division of Oral and Maxillofacial Surgery, Department of Oral and Maxillofacial Surgery, Faculty of Dentistry; 4Division of Radiology, Faculty of Medicine, King Abdul Aziz University, Jeddah, Saudi ArabiaAim: Conventional treatment of patients with hemifacial microsomia involves orthognathic surgery and/or distraction osteogenesis of the mandible. Previous reports showed that low-intensity pulsed ultrasound (LIPUS enhances mandibular growth in growing rabbits and monkeys. In monkeys, LIPUS enhanced mandibular growth when combined with functional jaw orthopedic appliances. The purpose of this pilot study was to investigate if LIPUS could enhance mandibular growth in children with hemifacial microsomia.Methods: Five children (age range 3–11 years with hemifacial microsomia were treated with hybrid jaw orthopedic functional appliances and treatment of the affected mandibular condyle by LIPUS for 20 minutes per day.Results: The results showed that after one year of treatment, significant improvement of the underdeveloped side of patients’ faces and mandibles was recognized both clinically and radiographically.Discussion: Although improvement took a longer time than did a surgical approach, optimizing this technique may achieve better results in a shorter treatment time. A randomized controlled clinical trial to investigate the effect of optimized LIPUS application or functional appliances in the treatment of hemifacial microsomia is warranted.Keywords: hemifacial microsomia, LIPUS, non-surgical treatment, children

  9. Activation of microglia/macrophages expressing phosphorylated S6 ribosomal protein in a case of hemimegalencephaly with progressive calcification and atrophy.

    Science.gov (United States)

    Nonoda, Yutaka; Saito, Yoshiaki; Itoh, Masayuki; Nakagawa, Eiji; Sugai, Kenji; Takahashi, Akio; Otsuki, Taisuke; Saito, Yuko; Arima, Kunimasa; Mizuguchi, Masashi; Goto, Yu-ichi; Sasaki, Masayuki

    2009-12-15

    A 3-year-old boy with right hemimegalencephaly (HME) showed massive calcification in the subcortical white matter and progressive atrophy of the affected hemisphere. Hemispherotomy was successful in amelioration of the patient's intractable epilepsy, and a surgical specimen from the epileptic focus was examined pathologically. Disarrangement of cortical layers along with dysmorphic appearance of neurons, balloon cells in the cortex and white matter, bi-layered calcifications in the superficial cortical layer and subcortical white matter, heterotopic neurons in the white matter, and diffuse astrogliosis were noted. Perivascular clustering of alpha-B-crystallin positive balloon cells was occasionally observed in the area of calcification. A diffuse increase was observed in the number of CD68-positive microglia/macrophages, particularly in perivascular and peri-calcification areas. These cells were often located within the calcification foci, which implicates their participation in the calcification process. Phosphorylated S6 ribosomal protein (P-S6) was expressed in large-sized neurons and numerous balloon cells, as well as in CD68-positive cells. In contrast, phosphorylated mammalian target of rapamycin (mTOR) was expressed in a small percentage of astrocytes, and phosphorylated p70S6 kinase was rarely identified in perivascular cells. These findings suggest that inflammatory processes have contributed to the pathogenesis of progressive calcification and atrophy in the megalencephalic hemisphere in this patient. Dissociation of expression of mTOR cascade components is common to other reported cases of HME, but P-S6 expression in microglia/macrophages has not been recognized. The cellular mechanism and significance of P-S6-specific activation of the mTOR cascade in HME, particularly in the inflammatory cell lineage, should be explored further.

  10. Bimaxillary Orthognathic Approach to Correct Skeletal Facial Asymmetry of Hemifacial Microsomia in Adults.

    Science.gov (United States)

    Luo, En; Yang, Shimao; Du, Wen; Chen, Qianming; Liao, Chuhang; Fei, Wei; Hu, Jing

    2016-06-01

    Hemifacial microsomia (HFM) is the second most common congenital craniofacial deformity after cleft lip and palate. Distraction osteogenesis (DO) is regarded as an alternative and efficient treatment option for patients with HFM. However, DO was not proven effective for all cases, and the results of long-term follow-up were not satisfactory as expected. Compared with DO, the orthognathic surgery approach may offer more stable clinical outcomes for this kind of disease. The purpose of this study is to evaluate the long-term clinical and radiographic outcome of bimaxillary orthognathic surgery in the treatment of adult HFM. Eight patients with HFM who had undergone bimaxillary orthognathic surgery between 2008 and 2012 were included in the study. The surgical procedures included Le Fort I osteotomy, inverted-L osteotomy, sagittal split ramus osteotomy, genioplasty, and iliac bone grafting. Pre- and postoperative orthodontic treatments were performed, respectively. Clinical and radiographic examinations were carried out to assess postoperative outcomes. No obvious complications appeared postoperatively and no recurrences occurred during follow-up. All patients obtained satisfactory aesthetic results. Marked improvement in facial contour and occlusion were observed. Plain radiographs showed that the height ratios between the affected and unaffected ramus were ameliorated significantly. The bimaxillary orthognathic approach to correct the deformity of adult HFM can obtain stable results in the long-term follow-up, and should be considered as a priority method for the treatment of adult patients with dentofacial deformity. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  11. Dominant optic atrophy

    Directory of Open Access Journals (Sweden)

    Lenaers Guy

    2012-07-01

    bilateral, mild, otherwise unexplained visual loss related to optic discs pallor or atrophy, and typically occurring in the context of a family history of DOA. Optical Coherence Tomography further discloses non-specific thinning of retinal nerve fiber layer, but a normal morphology of the photoreceptors layers. Abnormal visual evoked potentials and pattern ERG may also reflect the dysfunction of the RGCs and their axons. Molecular diagnosis is provided by the identification of a mutation in the OPA1 gene (75% of DOA patients or in the OPA3 gene (1% of patients. Prognosis Visual loss in DOA may progress during puberty until adulthood, with very slow subsequent chronic progression in most of the cases. On the opposite, in DOA patients with associated extra-ocular features, the visual loss may be more severe over time. Management To date, there is no preventative or curative treatment in DOA; severely visually impaired patients may benefit from low vision aids. Genetic counseling is commonly offered and patients are advised to avoid alcohol and tobacco consumption, as well as the use of medications that may interfere with mitochondrial metabolism. Gene and pharmacological therapies for DOA are currently under investigation.

  12. Correlation of Brain Atrophy, Disability, and Spinal Cord Atrophy in a Murine Model of Multiple Sclerosis.

    Science.gov (United States)

    Paz Soldán, M Mateo; Raman, Mekala R; Gamez, Jeffrey D; Lohrey, Anne K; Chen, Yi; Pirko, Istvan; Johnson, Aaron J

    2015-01-01

    Disability progression in multiple sclerosis (MS) remains incompletely understood. Unlike lesional measures, central nervous system atrophy has a strong correlation with disability. Theiler's murine encephalomyelitis virus infection in SJL/J mice is an established model of progressive MS. We utilized in vivo MRI to quantify brain and spinal cord atrophy in this model and analyzed the temporal relationship between atrophy and disability. Infected and control mice were followed for 12 months. Disability was assessed periodically using rotarod assay. Volumetric MRI datasets were acquired at 7 Tesla. Ventricular volume and C4-5 spinal cord cross-sectional area measurements were performed using Analyze 10. At 3 months, brain atrophy reached statistical significance (P = .005). In contrast, disability did not differ until 4 months post-infection (P = .0005). Cord atrophy reached significance by 9 months (P = 0.009). By 12 months, brain atrophy resulted in 111.8% increased ventricular volume (P = .00003), while spinal cord cross-sectional area was 25.6% reduced (P = .001) among cases. Our results suggest that significant brain atrophy precedes and predicts the development of disability, while spinal cord atrophy occurs late and correlates with severe disability. The observed temporal relationship establishes a framework for mechanisms of disability progression and enables further investigations of their underlying substrate. Copyright © 2015 by the American Society of Neuroimaging.

  13. Multiple system atrophy.

    Science.gov (United States)

    Peeraully, Tasneem

    2014-04-01

    Multiple system atrophy (MSA) is a rare adult-onset synucleinopathy associated with dysautonomia and the variable presence of poorly levodopa-responsive parkinsonism and/or cerebellar ataxia. Other clinical symptoms that can be associated with MSA include hyperreflexia, stridor, sleep apnea, and rapid eye movement sleep behavior disorder (RBD). Mean survival from time of diagnosis ranges between 6 to 10 years, and definitive diagnosis is made on autopsy with demonstration of oligodendroglial cytoplasmic inclusions consisting of fibrillar α-synuclein. Magnetic resonance imaging (MRI) may be positive for cruciform T2 hyperintensity within the pons (the "hot cross bun sign"), volume loss in the pons and cerebellum, and T2 signal loss in the dorsolateral putamen with hyperintense rim on fluid attenuated inversion recovery (FLAIR) sequencing. Although most cases are sporadic, genetic polymorphisms have been identified both in familial and sporadic cases of MSA, and influence observed phenotypes. Treatment is symptomatic, with both pharmacological and nonpharmacological strategies. There are currently no consensus guidelines on management. Current and future research is aimed at identifying biomarkers and developing disease-modifying therapies.

  14. Dan Zhi Xiao Yao Yin Combined With Auricular-Point-Pressing for Treatment of Optic Atrophy - A Clinical Observation of 51 Cases

    Institute of Scientific and Technical Information of China (English)

    杨海燕

    2004-01-01

    To evaluate the therapeutic effect of Dan Zhi Xiao Yao Yin (丹栀消遥饮 Decoction of Moutan Bark and Capejasmine) combined with auricular-point- pressing therapy for treatment of optic atrophy. The visual acuity and visual field was observed in the 51 cases (58 eyes) from the treatment group that were treated with Dan Zhi Xiao Yao Yin combined with auricular-point-pressing therapy and the 43 cases (49 eyes)from the control group that were treated with routine western drugs at the end of the trial (60 days). The effective rates of increase in visual acuity obtained in the treatment and the control groups were 79.3% and 44.89% respectively and enlargement in visual field were 61.9% and 22.6% respectively. Statistical analysis showed that there were significant differences between two groups (P<0.05). The therapeutic effect of Dan Zhi Xiao Yao Yin combined with auricular-point -pressing therapy in increasing the visual acuity and enlarging the visual field was superior to that of the routine western drugs.

  15. The role of abnormal muscle response monitoring during microvascular decompression for treating hemifacial spasm

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    Xiao-chen CHEN

    2016-05-01

    Full Text Available Objective To investigate the significance of abnormal muscle response (AMR monitoring during microvascular decompression (MVD for hemifacial spasm (HFS in confirming the responsible blood vessel, improving the prognosis and reducing postoperative complications.  Methods A total of 34 HFS patients underwent AMR monitoring during MVD.  Results The AMR of mentalis was recorded in all 34 patients by electrically stimulating zygomatic branch of facial nerve before anesthesia. Compared with preoperation, the AMR latency after operation was significantly longer [(16.12 ± 3.17 ms vs (14.75 ± 3.32 ms, P = 0.015] and amplitude was significantly reduced [(0.11 ± 0.03)mV vs (0.13 ± 0.03 mV, P = 0.027]. AMR was disappeared in 32 cases (94.12% after the removal of responsible blood vessel. There was one patient (2.94% whose AMR disappeared momentarily after the incision of endocranium and disappeared completely after the removal of responsible blood vessel, while AMR still existed in one case (2.94% after the removal of responsible blood vessel. Responsible blood vessels included anterior inferior cerebellar artery (N = 30, 88.24%, posterior inferior cerebellar artery (N = 3, 8.82% and basilar artery (N = 1, 2.94%, which oppressed the root of facial nerve (N = 22, 64.71%, the distal part (N = 8, 23.53%, and both the root and distal part (N = 4, 11.76%. After operation, facial spasm disappeared. Thirty-one cases were cured, 2 cases evidently remitted, and one case inefficacious. The total effective rate was 97.06%.  Conclusions Continuously intraoperative monitoring of AMR contributes to confirming the responsible blood vessel, completing decompression for facial nerve more thoroughly, improving the prognosis, reducing delayed healing up, at the same time enhancing neurosurgeons' confidence and reducing operation time. DOI: 10.3969/j.issn.1672-6731.2016.05.010

  16. Custos e eficácia da toxina botulínica tipo A no tratamento do blefaroespasmo essencial e espasmo hemifacial Costs and efficacy of type A botulinum toxin for the treatment of essential blepharospasm and hemifacial spasm

    Directory of Open Access Journals (Sweden)

    Cintia Gomes Galvão Lasalvia

    2006-10-01

    Full Text Available OBJETIVO: Avaliar os custos do tratamento para blefaroespasmo essencial e espasmo hemifacial com toxina botulínica tipo A (Dysport®, correlacionando-os com sua eficácia terapêutica. MÉTODOS: Análise de 50 prontuários de pacientes com blefaroespasmo essencial e espasmo hemifacial, submetidos à terapia com Dysport®, no período de abril de 2002 a maio de 2004 no setor de Óculo-Plástica da Santa Casa de São Paulo. Dos 50 pacientes, 27 apresentavam blefaroespasmo essencial e 23 espasmo hemifacial. Informações sobre grau de satisfação, queixas e custos pessoais foram obtidas mediante questionário. Os custos do medicamento e dos materiais foram pesquisados no almoxarifado e na farmácia da Santa Casa. Quanto ao custo das consultas, utilizou-se a tabela de pagamento do SUS. Para a estatística foram utilizados os testes de Wilcoxon e Mann-Whitney. RESULTADOS: O custo total anual do tratamento foi de R$ 1.239,32 para o blefaroespasmo essencial e R$ 661,72 para o espasmo hemifacial. Para o paciente, o custo anual foi de R$ 145,48 para o blefaroespasmo essencial e R$ 126,07 para o espasmo hemifacial. Para o hospital, o custo anual foi de R$ 1.095,84 para o blefaroespasmo essencial e R$ 535,65 para o espasmo hemifacial. O tratamento com Dysport® promoveu melhora funcional significativa nos dois grupos. CONCLUSÃO: O procedimento tem custo elevado, principalmente devido ao preço da toxina. Entretanto, pela análise econômica da saúde fica demonstrado que o procedimento possui excelente relação custo-benefício.PURPOSE: To evaluate the costs and efficacy of type A botulinum toxin in the treatment of essential blepharospasm and hemifacial spasm. METHODS: Pacients with essential blepharospasm and hemifacial spasm had their files analyzed. All patients were treated with type A botulinum toxin (Dysport® between April 2002 and May 2004 at the Oculoplastic Clinics of "Santa Casa de São Paulo". Twenty-seven patients presented essential

  17. Spinal muscular atrophy

    National Research Council Canada - National Science Library

    D'Amico, Adele; Mercuri, Eugenio; Tiziano, Francesco D; Bertini, Enrico

    2011-01-01

    Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis...

  18. Spinal Muscular Atrophy

    Science.gov (United States)

    Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your ...

  19. Radiological analysis of hemifacial spasm with special reference to angiographic manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Carlos, R.; Hasuo, K.; Uchino, A.; Kudo, S.; Matsuura, K.; Fukui, M.; Matsushima, T.; Tamura, S.; Kitamura, K.

    1986-07-01

    Fifty-one patients with hemifacial spasm secondary to facial nerve compression by normal appearing, elongated, tortuous and/or dilated arteries, were treated by microsurgical neurovascular decompression. Post-operatively, 91% of 44 of these patients with one to six year postoperative follow-ups were satisfactory. The angiographic findings showed significant increase in the number of common trunk anomalies. Variations of the anterior and posterior inferior cerebellar and vertebral arteries are discussed in relation to nerve compression.

  20. Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm.

    Science.gov (United States)

    Karp, Barbara Illowsky; Alter, Katharine

    2016-02-01

    Blepharospasm is a focal dystonia characterized by involuntary, repetitive eye closure. Orofacial and oromandibular dystonia describe involuntary dystonic movements of orofacial and oromandibular musculature. Hemifacial spasm is characterized by repetitive synchronous contraction of facial nerve innervated muscles on one side of the face. In this article, the clinical presentation, epidemiology, and approaches to treatment are reviewed. Technical aspects of using botulinum toxin for treatment and reported outcomes are discussed.

  1. Análise da ceratometria corneana em pacientes portadores de espasmo hemifacial

    Directory of Open Access Journals (Sweden)

    Ivana Cardoso Pereira

    2011-12-01

    Full Text Available OBJETIVO: Determinar a variação da ceratometria em olhos de pacientes portadores de espasmo hemifacial submetidos a tratamento com toxina botulínica. MÉTODOS: Foram incluídos 18 pacientes portadores de espasmo hemifacial que foram submetidos ao exame oftalmológico completo, além da topografia corneana e Orbscan previamente à aplicação de toxina botulínica tipo A e 1 mês após o procedimento. RESULTADOS: Não houve diferença estatisticamente significante entre a ceratometria encontrada pela topografia corneana ou diferença no BFS ("best fit sphere" anterior e posterior e índice de Roush avaliados pelo Orbscan nos olhos acometidos pelo espasmo em relação ao olho contralateral quando comparados antes e após o procedimento. CONCLUSÃO: Neste estudo, não encontramos diferença entre olhos com espasmo hemifacial e olhos sem essa condição quando avaliados a ceratometria, o índice de Roush e o BFS corneano antes e após tratamento.

  2. Precise positioning of an intraoral distractor using augmented reality in patients with hemifacial microsomia.

    Science.gov (United States)

    Qu, Miao; Hou, Yikang; Xu, Yourong; Shen, Congcong; Zhu, Ming; Xie, Le; Wang, Hao; Zhang, Yan; Chai, Gang

    2015-01-01

    Through three-dimensional real time imaging, augmented reality (AR) can provide an overlay of the anatomical structure, or visual cues for specific landmarks. In this study, an AR Toolkit was used for distraction osteogenesis with hemifacial microsomia to define the mandibular osteotomy line and assist with intraoral distractor placement. 20 patients with hemifacial microsomia were studied and were randomly assigned to experimental and control groups. Pre-operative computed tomography was used in both groups, whereas AR was used in the experimental group. Afterwards, pre- and post-operative computed tomographic scans of both groups were superimposed, and several measurements were made and analysed. Both the conventional method and AR technique achieved proper positioning of the osteotomy planes, although the AR was more accurate. The difference in average vertical distance from the coronoid and condyle process to the pre- and post-operative cutting planes was significant (p 0.05) was observed in the average angle between the two planes. The difference in deviations between the intersection points of the overlaid mandible across two cutting planes was also significant (p Augmented reality tools such as the AR Toolkit may be helpful for precise positioning of intraoral distractors in patients with hemifacial microsomia in craniofacial surgery. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  3. Severe spinal muscular atrophy variant associated with congenital bone fractures.

    Science.gov (United States)

    Felderhoff-Mueser, Ursula; Grohmann, Katja; Harder, Anja; Stadelmann, Christine; Zerres, Klaus; Bührer, Christoph; Obladen, Michael

    2002-09-01

    Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMNI) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures.

  4. 针刺治疗面肌痉挛疗效观察%Therapeutic Observation of Acupuncture for Hemifacial Spasm

    Institute of Scientific and Technical Information of China (English)

    赵岩; 王胜; 高珺

    2016-01-01

    目的:观察针刺治疗面肌痉挛的临床疗效以及对眼轮匝肌在收缩状态下表面肌电信号的影响。方法将76例面肌痉挛患者随机分为治疗组和对照组,每组38例。对照组采用常规药物治疗,治疗组在对照组基础上采用针刺治疗。比较两组治疗前后患者眼轮匝肌在收缩状态下的表面肌电信号、临床疗效和副反应发生情况。结果两组治疗后MF、MPF数值与同组治疗前比较,差异均具有统计学意义(P<0.05)。治疗组治疗后MPF数值与对照组比较,差异具有统计学意义(P<0.05)。治疗组总有效率为92.1%,对照组为63.2%,两组比较差异具有统计学意义(P<0.05)。两组治疗后TESS评分与同组治疗前比较,差异均具有统计学意义(P<0.05)。治疗组治疗后TESS评分与对照组比较,差异具有统计学意义(P<0.05)。结论针刺是一种治疗面肌痉挛的有效方法,能缓解肌肉疲劳。%Objective To observe the clinical efficacy of acupuncture in treating hemifacial spasm and its effect on the surface electromyogram signal of orbicularis oculi muscle under contraction state.Method Seventy-six patients with hemifacial spasm were randomized into a treatment group and a control group, 38 cases in each group. The control group was intervened by conventional medications, while the treatment group was by acupuncture in addition to the intervention given to the control group. The surface electromyogram signal of orbicularis oculi muscle under contraction before and after intervention, clinical efficacies, and side effects were compared between the two groups.Result The MF and MPF values were significantly changed after intervention in both groups (P<0.05). After intervention, the MPF value in the treatment group was significantly different from that in the control group (P<0.05). The total effective rate was 92.1% in the treatment group versus 63.2% in the control group, and the difference was

  5. 茎乳孔注射地西泮配合SGB治疗面肌痉挛的疗效观察%Stylomastoid Foramen Injection Diazepam with SGB Treat Hemifacial Spasm Curative Effect Observation

    Institute of Scientific and Technical Information of China (English)

    董志科

    2013-01-01

    Objective: To explore the stylomastoid foramen injection of diazepam with curative ef ect, SGB for the treatment of hemifacial spasm. Method: in 2008 May ~2009 May admit ed to our hospital 20 cases of patients with hemifacial spasm made retrospective analysis, analysis of the stylomastoid foramen injection of diazepam combined with the ef ect of SGB treatment. Results:after 1 times of injection termination of seizures in 8 cases, after 2 times of injection after termination of seizures in 6 cases, with 3~5 injections after termination of seizures in 6 cases, the patients were followed up for 1 years without recurrence. Conclusion: the stylomastoid foramen injection of diazepam with the efficacy of stel ate ganglion block in treatment of hemifacial spasm with.%目的:分析探讨茎乳孔注射地西泮配合SGB治疗面肌痉挛的疗效。方法对2008年5月~2009年5月收治于我院的20例面肌痉挛患者做出了回顾性分析,分析茎乳孔注射地西泮配合SGB治疗的疗效。结果经1次注射终止发作8例,经2次注射后终止发作6例,经3~5次注射后终止发作6例,其病例随访1年仍无复发。结论茎乳孔注射地西泮配合星状神经节阻滞治疗面肌痉挛疗效满意。

  6. Reconstruction of maxillary ridge atrophy caused by dentoalveolar trauma, using autogenous block bone graft harvested from chin: a case report

    Directory of Open Access Journals (Sweden)

    Francisley Ávila Souza

    2014-06-01

    Full Text Available Background: Dentoalveolar trauma, especially when involving front teeth, negatively affect the patient’s life; in particular, tooth avulsion is a complex injury that affects multiple tissues, and no treatment option offers stable long-term outcomes. The aim of this study was to report a case of reconstruction of atrophic anterior alveolar ridge after tooth loss, performed with autograft harvested from the chin, and subsequent prosthetic rehabilitation with the use of an osseointegrated implant. Case report: A 23-years-old Caucasian girl, presented an atrophic alveolar bone in the area of tooth 11, as a result of tooth resorption 10 years after a tooth reimplantation procedure. Reconstruction was performed with autogenous bone harvested from the chin. After 6-months healing period to allow autograft incorporation, a dental implant was inserted. After further 6- months, a screw-retained implant supported metal-ceramic prosthesis was fabricated. Results The prosthetic rehabilitation was successful, and after a follow-up period of 5 years, the achieved result was stable. Conclusion: It can be concluded that the autogenous bone graft harvested from the chin, is a safe and effective option for alveolar ridge defects reconstruction, allowing a subsequent placement of a dental implant supporting a prosthetic restoration.

  7. Magnetic resonance imaging of vascular compression in trigeminal neuralgia and hemifacial spasms; The efficacy of oblique sagittal view

    Energy Technology Data Exchange (ETDEWEB)

    Nagaseki, Yoshishige; Horikoshi, Tohru; Omata, Tomohiro; Sugita, Masao; Nukui, Hideaki; Sakamoto, Hajime; Kumagai, Hiroshi (Yamanashi Medical College, Tamaho (Japan)); Sasaki, Hideo; Tsuji, Reizou

    1991-06-01

    We show how neurosurgical planning can benefit from the better visualization of the precise vascular compression of the nerve provided by the oblique-sagittal and gradient-echo method (OS-GR image) using magnetic resonance images (MRI). The scans of 3 patients with trigeminal neuralgia (TN) and of 15 with hemifacial spasm (HFS) were analyzed for the presence and appearance of the vascular compression of the nerves. Imaging sequences consisted of an OS-GR image (TR/TE: 200/20, 3-mm-thick slice) cut along each nerve shown by the axial view, which was scanned at the angle of 105 degrees taken between the dorsal line of the brain stem and the line corresponding to the pontomedullary junction. In the OS-GR images of the TN's, the vascular compressions of the root entry zone (REZ) of the trigeminal nerve were well visualized as high-intensity lines in the 2 cases whose vessels were confirmed intraoperatively. In the other case, with atypical facial pain, vascular compression was confirmed at the rostral distal site on the fifth nerve, apart from the REZ. In the 15 cases of HFS, twelve OS-GR images (80%) demonstrated vascular compressions at the REZ of the facial nerves from the direction of the caudoventral side. During the surgery for these 12 cases, in 11 cases (excepting the 1 case whose facial nerve was not compressed by any vessels), vascular compressions were confirmed corresponding to the findings of the OS-GR images. Among the 10 OS-GR images on the non-affected side, two false-positive findings were visualized. It is concluded that OS-GR images obtained by means of MRI may serve as a useful planning aid prior to microvascular decompression for cases of TN and HFS. (author).

  8. Simplifying the Treatment of Bone Atrophy in the Posterior Regions: Combination of Zygomatic and Wide-Short Implants—A Case Report with 2 Years of Follow-Up

    Science.gov (United States)

    Thomé, Geninho; Bielemann, Amália Machado; Hermann, Caio; Melo, Ana Cláudia Moreira; Padovan, Luis Eduardo Marques; de Mattias Sartori, Ivete Aparecida

    2016-01-01

    The rehabilitation of maxillary and mandibular bone atrophy represents one of the main challenges of modern oral implantology because it requires a variety of procedures, which not only differ technically, but also differ in their results. In the face of limitations such as deficiencies in the height and thickness of the alveolar structure, prosthetic rehabilitation has sought to avoid large bone reconstruction through bone grafting; this clinical behavior has become a treatment system based on evidence from clinical scientific research. In the treatment of atrophic maxilla, the use of zygomatic implants has been safely applied as a result of extreme technical rigor and mastery of this surgical skill. For cases of posterior mandibular atrophy, short implants with a large diameter and a combination of short and long implants have been recommended to improve biomechanical resistance. These surgical alternatives have demonstrated a success rate similar to that of oral rehabilitation with the placing of conventional implants, allowing the adoption of immediate loading protocol, a decrease in morbidity, simplification and speed of the treatment, and cost reduction. This case report presents complete oral rehabilitation in a patient with bilateral bone atrophy in the posterior regions of the maxilla and mandible with the goal of developing and increasing posterior occlusal stability during immediate loading. PMID:27867669

  9. Simplifying the Treatment of Bone Atrophy in the Posterior Regions: Combination of Zygomatic and Wide-Short Implants—A Case Report with 2 Years of Follow-Up

    Directory of Open Access Journals (Sweden)

    Fernanda Faot

    2016-01-01

    Full Text Available The rehabilitation of maxillary and mandibular bone atrophy represents one of the main challenges of modern oral implantology because it requires a variety of procedures, which not only differ technically, but also differ in their results. In the face of limitations such as deficiencies in the height and thickness of the alveolar structure, prosthetic rehabilitation has sought to avoid large bone reconstruction through bone grafting; this clinical behavior has become a treatment system based on evidence from clinical scientific research. In the treatment of atrophic maxilla, the use of zygomatic implants has been safely applied as a result of extreme technical rigor and mastery of this surgical skill. For cases of posterior mandibular atrophy, short implants with a large diameter and a combination of short and long implants have been recommended to improve biomechanical resistance. These surgical alternatives have demonstrated a success rate similar to that of oral rehabilitation with the placing of conventional implants, allowing the adoption of immediate loading protocol, a decrease in morbidity, simplification and speed of the treatment, and cost reduction. This case report presents complete oral rehabilitation in a patient with bilateral bone atrophy in the posterior regions of the maxilla and mandible with the goal of developing and increasing posterior occlusal stability during immediate loading.

  10. Scrotal Swelling and Testicular Atrophy due to Schistosomiasis in a 9-Year-Old Boy: A Case Report

    Directory of Open Access Journals (Sweden)

    Peter F. Rambau

    2011-01-01

    Full Text Available Schistosomiasis is a communicable disease which commonly involves urinary bladder causing hematuria, or large bowel causing bloody stool. The common species encountered in this lake region surrounding Lake Victoria in Tanzania are Schistosoma haematobium and Schistosoma mansoni. Complications can lead to portal hypertension due portal fibrosis in liver, and fibrosis in lung can lead to pulmonary hypertension; this commonly seen with S. mansoni. Major complications of S. maeametobium are chronic cystitis with squamous metaplasia with subsequent development of squamous cell carcinoma. Involvement of spinal cord causing paraplegia has been observed in S. haematobium. Other unusual pathology of schistosomiasis has been described, such as involvement of the appendix, ovary, prostate, and cervix. Here, we present a case of schistosomiasis in a 9-year-old boy who presented with left scrotal pain for one year which was accompanied by scrotal swelling; surgical exploration was done, and the finding was hydrocele and atrophic testes with nodules on the surface. Histological examination reveals atrophic testis and heavy active granulomatous inflammation with schistosoma eggs consistent with Schistosoma haematobium in the tunica vaginalis.

  11. A case of diabetic amyotrophy with severe atrophy and weakness of shoulder girdle muscles showing good response to intravenous immune globulin.

    Science.gov (United States)

    Wada, Yuko; Yanagihara, Chie; Nishimura, Yo; Oka, Nobuyuki

    2007-01-01

    A 45-year-old man with insulin-dependent diabetic mellitus developed progressive asymmetrical weakness and atrophy of both shoulder girdle muscles within 1 year. In the last month, he also developed slight weakness of both thighs. Neuropathology of the sural nerve showed an axonal degeneration and perivascular inflammation and electromyography revealed neurogenic changes. Because of a diagnosis of suspected diabetic amyotrophy, intravenous immunoglobulin was administered. This treatment produced marked improvement. Physicians should take into account the possibility of diabetic amyotrophy in patients with diabetic mellitus showing primary involvement of shoulder girdle muscles marked by weakness and atrophy.

  12. Progressive cerebral atrophy in neuromyelitis optica.

    Science.gov (United States)

    Warabi, Yoko; Takahashi, Toshiyuki; Isozaki, Eiji

    2015-12-01

    We report two cases of neuromyelitis optica patients with progressive cerebral atrophy. The patients exhibited characteristic clinical features, including elderly onset, secondary progressive tetraparesis and cognitive impairment, abnormally elevated CSF protein and myelin basic protein levels, and extremely highly elevated serum anti-AQP-4 antibody titer. Because neuromyelitis optica pathology cannot switch from an inflammatory phase to the degenerative phase until the terminal phase, neuromyelitis optica rarely appears as a secondary progressive clinical course caused by axonal degeneration. However, severe intrathecal inflammation and massive destruction of neuroglia could cause a secondary progressive clinical course associated with cerebral atrophy in neuromyelitis optica patients.

  13. Research opportunities in muscle atrophy

    Science.gov (United States)

    Herbison, G. J. (Editor); Talbot, J. M. (Editor)

    1984-01-01

    Muscle atrophy in a weightless environment is studied. Topics of investigation include physiological factors of muscle atrophy in space flight, biochemistry, countermeasures, modelling of atrophied muscle tissue, and various methods of measurement of muscle strength and endurance. A review of the current literature and suggestions for future research are included.

  14. Dominant optic atrophy

    DEFF Research Database (Denmark)

    Lenaers, Guy; Hamel, Christian; Delettre, Cécile

    2012-01-01

    DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC...

  15. Age-related macular degeneration with choroidal neovascularization in the setting of pre-existing geographic atrophy and ranibizumab treatment. Analysis of a case series and revision paper

    Directory of Open Access Journals (Sweden)

    Miguel Hage Amaro

    2012-12-01

    Full Text Available PURPOSE: To report the response of choroidal neovascularization (CNV to intravitreal ranibizumab treatment in the setting of age-related macular degeneration (AMD with extensive pre-existing geographic atrophy (GA and a revision paper. METHODS: This is a revision paper and a retrospective case series of 10 eyes in nine consecutive patients from a photographic database. The patients were actively treated with ranibizumab for neovascular AMD with extensive pre-existing GA. Patients were included if they had GA at or adjacent to the foveal center that was present before the development of CNV. The best corrected visual acuity and optical coherence tomography (OCT analysis of the central macular thickness were recorded for each visit. Serial injections of ranibizumab were administered until there was resolution of any subretinal fluid clinically or on OCT. Data over the entire follow-up period were analyzed for overall visual and OCT changes. All patients had been followed for at least 2 years since diagnosis. RESULTS: The patients received an average of 6 ± 3 intravitreal injections over the treatment period. Eight eyes had reduced retinal thickening on OCT. On average, the central macular thickness was reduced by 94 ± 101 µm. Eight eyes had improvement of one or more lines of vision, where as one eye had dramatic vision loss and one had no change. The average treatment outcome for all patients was -0.07 ± 4.25 logMAR units, which corresponded to a gain of 0.6 ± 4.4 lines of Snellen acuity. The treatment resulted in a good anatomic response with the disappearance of the subretinal fluid, improved visual acuity, and stabilized final visual results. CONCLUSION: The results of this case series suggest that the use of an intravitreal anti-vascular endothelial growth factor (VEGF agent (ranibizumab for CNV in AMD with extensive pre-existing GA is effective. Our results are not as striking as published results from large-scale trials of anti

  16. [Liver Atrophy and Failure Associated with Paclitaxel and Bevacizumab Combination Therapy for Metastatic Breast Cancer].

    Science.gov (United States)

    Yamamoto, Mari; Ikeda, Masahiko; Kubo, Shinichiro; Tsukioki, Takahiro; Nakamoto, Shougo

    2016-07-01

    We managed 6 cases of severe liver atrophy and failure associated with paclitaxel and bevacizumab combination therapy (PB therapy)for HER2-negative metastatic breast cancer. In this case-controlstudy, we examined the records of these 6 patients to investigate past treatment, medication history, and degree of atrophy, and compared their data with that of 67 patients without liver atrophy. The degree of the liver atrophy used SYNAPSE VINCENT®of the image analysis software. The results showed that patients with liver atrophy had a longer pretreatment period than those without liver atrophy(33.5 months vs 15.5 months), and they also experienced a longer median time to treatment failure with PB therapy than other patients(11 months vs 6 months). The ratio of individuals presenting with diffuse liver metastasis among patients with liver metastasis was 80% with liver atrophy, compared to 8% without liver atrophy. The degree of liver atrophy was an average of 67%in terms of volume ratio before/after PB therapy(57-82%). The individualwith the greatest extent of liver atrophy died of liver failure, not as a result of breast cancer progression. The direct causal link between bevacizumab and liver atrophy and failure is unclear, but the individuals in this study had a long previous history of treatment, and diffuse liver metastases may develop in patients undergoing long periods of PB therapy, which may also cause liver atrophy; therefore, the possibility of liver failure should be considered in such cases.

  17. Espasmo hemifacial resultados da descompressão microvascular em 53 pacientes

    OpenAIRE

    Paulo Niemeyer Filho; Marcelo Bezerra; Gabriel Mufarrej

    1990-01-01

    Num período de 10 anos, 53 pacientes com espasmo hemifacial foram submetidos a 54 procedimentos de descompressão microvascular da raiz do facial, na fossa posterior. A técnica empregada foi a mesma desenvolvida por Jannetta e o resultado cirúrgico inicial foi considerado excelente em 91% dos casos. O follow-up variou de 60 dias a 7 anos, cora 40 pacientes acompanhados por mais de 2 anos e 16, por mais de 5 anos. Apenas um paciente apresentou reciciva dos espasmos. Não houve óbito e as complic...

  18. A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210

    Directory of Open Access Journals (Sweden)

    K. N. Venkateshwara Prasad

    2013-01-01

    Full Text Available Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna.

  19. Custos e eficácia da toxina botulínica tipo A no tratamento do blefaroespasmo essencial e espasmo hemifacial

    OpenAIRE

    Lasalvia,Cintia Gomes Galvão; Pereira,Luciano de Sousa; Cunha,Marcos Carvalho da; Kitadai,Silvia Prado Smit

    2006-01-01

    OBJETIVO: Avaliar os custos do tratamento para blefaroespasmo essencial e espasmo hemifacial com toxina botulínica tipo A (Dysport®), correlacionando-os com sua eficácia terapêutica. MÉTODOS: Análise de 50 prontuários de pacientes com blefaroespasmo essencial e espasmo hemifacial, submetidos à terapia com Dysport®, no período de abril de 2002 a maio de 2004 no setor de Óculo-Plástica da Santa Casa de São Paulo. Dos 50 pacientes, 27 apresentavam blefaroespasmo essencial e 23 espasmo hemifacial...

  20. Espasmo hemifacial e impressão basilar associados a malformação de arnold-chiari relato de caso

    OpenAIRE

    Manoel Baldoino Leal Filho; Elza Dias-Tosta; Nasser Allan; Paulo Said; José Luis F. Mendonça; Fernando Guilhon Henriques

    1992-01-01

    Os autores relatam o caso de uma paciente com espasmo hemifacial e impressão basilar associados a malformação de Arnold-Chiari. Com a descompressão cirúrgica da fossa posterior, empregada no tratamento da impressão basilar, houve melhora do quadro clínico e o espasmo hemifacial se reduziu quanto à frequência, duração e intensidade. É enfatizada a necessidade do tratamento etiológico do espasmo hemifacial, antes de se recorrer à toxina botulínica.

  1. Espasmo hemifacial e impressão basilar associados a malformação de arnold-chiari relato de caso

    Directory of Open Access Journals (Sweden)

    Manoel Baldoino Leal Filho

    1992-09-01

    Full Text Available Os autores relatam o caso de uma paciente com espasmo hemifacial e impressão basilar associados a malformação de Arnold-Chiari. Com a descompressão cirúrgica da fossa posterior, empregada no tratamento da impressão basilar, houve melhora do quadro clínico e o espasmo hemifacial se reduziu quanto à frequência, duração e intensidade. É enfatizada a necessidade do tratamento etiológico do espasmo hemifacial, antes de se recorrer à toxina botulínica.

  2. [Posterior cortical atrophy].

    Science.gov (United States)

    Solyga, Volker Moræus; Western, Elin; Solheim, Hanne; Hassel, Bjørnar; Kerty, Emilia

    2015-06-02

    Posterior cortical atrophy is a neurodegenerative condition with atrophy of posterior parts of the cerebral cortex, including the visual cortex and parts of the parietal and temporal cortices. It presents early, in the 50s or 60s, with nonspecific visual disturbances that are often misinterpreted as ophthalmological, which can delay the diagnosis. The purpose of this article is to present current knowledge about symptoms, diagnostics and treatment of this condition. The review is based on a selection of relevant articles in PubMed and on the authors' own experience with the patient group. Posterior cortical atrophy causes gradually increasing impairment in reading, distance judgement, and the ability to perceive complex images. Examination of higher visual functions, neuropsychological testing, and neuroimaging contribute to diagnosis. In the early stages, patients do not have problems with memory or insight, but cognitive impairment and dementia can develop. It is unclear whether the condition is a variant of Alzheimer's disease, or whether it is a separate disease entity. There is no established treatment, but practical measures such as the aid of social care workers, telephones with large keypads, computers with voice recognition software and audiobooks can be useful. Currently available treatment has very limited effect on the disease itself. Nevertheless it is important to identify and diagnose the condition in its early stages in order to be able to offer patients practical assistance in their daily lives.

  3. 颈动脉狭窄伴局限性皮质脑萎缩22例临床观察%Carotid Stenosis with Limitations of Cortical Brain Atrophy of 22 Cases of Clinical Observation

    Institute of Scientific and Technical Information of China (English)

    常晓侠

    2015-01-01

    目的:通过回顾22例局限性皮质脑萎缩患者临床病例,探讨颈动脉狭窄和局限性皮质脑萎缩的关联性。方法研究选取发生轻度脑梗死患者22例,对其颈动脉血管狭窄情况进行检查评价。结果患者颈动脉正常侧狭窄率正常的比例为22.7%,发生局限性皮质脑萎缩侧均不同程度存在动脉粥样硬化斑块,血管狭窄程度均在中度以上,显著高于正常侧。结论研究显示颈动脉狭窄和脑部局限性皮质脑萎缩之间存在关联性,临床上应重视对局限性皮质脑萎缩患者的颈动脉血管情况检查,及时掌握病情。%Objective Through the review of 22 patients with localized cortical brain atrophy clinical cases, to explore the correlation of carotid stenosis and limitations of cortical brain atrophy.Methods To study the selection of 22 patients with mild cerebral infarction, to evaluate check its carotid artery stenosis. Results The patients with carotid artery stenosis rate is 22.7% of normal, normal side in limitations of cortical brain atrophy side are different degree of atherosclerosis plaques, vascular stenosis degree above moderate, is significantly higher than the normal side.Conclusion The study shows that carotid stenosis and limitations of cortical brain atrophy, and correlation between clinical should pay attention to the limitations of the carotid artery in patients with cortical brain atrophy inspection, timely grasp the condition.

  4. Steroid-induced Kager's fat pad atrophy

    Energy Technology Data Exchange (ETDEWEB)

    Taneja, Atul K. [Hospital Israelita Albert Einstein, Musculoskeletal Radiology Division, Imaging Department, Sao Paulo (Brazil); Musculoskeletal Imaging, Diagnostic Center, Hospital do Coracao (HCor) and Teleimagem, Sao Paulo, SP (Brazil); Santos, Durval C.B. [Hospital Israelita Albert Einstein, Musculoskeletal Radiology Division, Imaging Department, Sao Paulo (Brazil)

    2014-08-15

    We report a rare case of Kager's fat pad atrophy and fibrosis in a 60-year-old woman 1 year after a steroid injection for Achilles tendinopathy. There are few published reports of steroid-induced atrophy affecting deeper layers of fat tissue. To our knowledge, this case report is the first to illustrate its features using magnetic resonance imaging. A review of the scientific literature is also presented. (orig.)

  5. [A case or Leber hereditary optic neuropathy (LHON): differential diagnosis with post inflammatory atrophy of nerve II using the mtDNA analysis].

    Science.gov (United States)

    Lubos, Leszek; Wajgt, Andrzej; Maciejowski, Maciej; Mroczek-Tońska, Katarzyna; Bartnik, Ewa; Dziekanowska, Danuta

    2003-01-01

    The Leber hereditary optic neuropathy (LHON) is a disease due to a mtDNA mutation. The disorder results from enzymatic perturbations in the mitochondrial respiratory chain. Clinically the LHON may present as a progressive axonal atrophy of the optic nerves with or without other neurological symptoms. The process of reaching the diagnosis of the LHON by means of the molecular analysis of mtDNA is discussed.

  6. CASE REPORT OF CEREBRAL ATROPHY INDUCED BY HAEMOPHILUS INFLUENZA TYPE B CONJUGATE VACCINE%b型流感嗜血杆菌结合疫苗致脑萎缩病例报告

    Institute of Scientific and Technical Information of China (English)

    王仁富; 廖红英

    2012-01-01

    [目的]对接种某种b型流感嗜血杆菌结合疫苗后发生脑萎缩的个案进行分析,结合该个案提出对避免预防接种异常反应工作提出建议.[方法]个案分析.[结果]患儿的脑萎缩是接种疫苗后发生抽搐、发热、意识障碍等症状产生的后遗症.[结论]预防接种工作人员在接种疫苗时须加强安全意识,避免异常反应的发生.%[Objective] To analyze the cases with brain atrophy induced by vaccination with Haemophilus influenzae type b vaccine, combined with the case put forward to avoid abnormal reaction to the work of vaccination recommendations. [Methods] Case report analysis was taken. [RssultS] Children with brain atrophy is the occurrence of seizures after vaccination, fever, disturbance of consciousness and olher symptoms resulting sequela. [Conclusion] Vaccination of staff should be vaccinated to enhance safety awareness and prevent the occurrence of abnormal reaction.

  7. Usefulness of three-dimensional display for microvascular decompression surgery in patients with hemifacial spasm and trigeminal neuralgia

    Energy Technology Data Exchange (ETDEWEB)

    Kumon, Yoshiaki; Sakaki, Saburo; Ohue, Shiroh; Ohta, Shinsuke; Kohno, Kanehisa; Ishimaru, Yoshihiro [Ehime Univ., Shigenobu (Japan). Shool of Medicine

    1997-03-01

    This report deals with the usefulness of three-dimensional (3D) display for microvascular decompression surgery in patients with hemifacial spasm and trigeminal neuralgia. Twenty-two patients with hemifacial spasm and six with trigeminal neuralgia were studied by magnetic resonance (MR) imaging using three-dimensional spoiled gradient recalled acquisition in the steady state (3D-SPGR), MR angiography and 3D display. The 3D displayed images were roconstructed at a work station from the 3D-SPGR MR data by the surface rendering method. In all patients, the preoperative 3D-SPGR MR images demonstrated the causative vessels that had been compressed or were attached to the root exit or root entry zone (REZ) of the facial or trigeminal nerve. The causative vessels were identified on MR angiography. The 3D display provided clear information regarding the anatomical relationship between the causative vessels and the REZ of the nerves. Among the 22 patients with hemifacial spasm, the causative vessels were the posterior inferior cerebellar arteries (PICA) in 11, and the anterior inferior cerebellar arteries in the other 11. In the six patients with trigeminal neuralgia, the causative vessels were identified as the superior cerebellar arteries in five, and PICA in the remaining one. The surgical findings were compatible with those demonstrated by 3D displayed images. The symptoms were completely relieved after surgery in 20 patients with hemifacial spasm and in all six patients with trigeminal neuralgia. In conclusion, 3D-SPGR MR imaging and MR angiography are useful for the detection of the causative vessels in patients with hemifacial spasm and trigeminal neuralgia. Moreover, 3D display is especially useful for the presentation of the anatomical relationship and the simulation of surgical procedures. (author)

  8. Is the Supraspinatus Muscle Atrophy Truly Irreversible after Surgical Repair of Rotator Cuff Tears?

    Science.gov (United States)

    Chung, Seok Won; Kim, Sae Hoon; Tae, Suk-Kee; Yoon, Jong Pil; Choi, Jung-Ah

    2013-01-01

    Background Atrophy of rotator cuff muscles has been considered an irreversible phenomenon. The purpose of this study is to evaluate whether atrophy is truly irreversible after rotator cuff repair. Methods We measured supraspinatus muscle atrophy of 191 patients with full-thickness rotator cuff tears on preoperative magnetic resonance imaging and postoperative multidetector computed tomography images, taken at least 1 year after operation. The occupation ratio was calculated using Photoshop CS3 software. We compared the change between pre- and postoperative occupation ratios after modifying the preoperative occupation ratio. In addition, possible relationship between various clinical factors and the change of atrophy, and between the change of atrophy and cuff integrity after surgical repair were evaluated. Results The mean occupation ratio was significantly increased postoperatively from 0.44 ± 0.17 to 0.52 ± 0.17 (p atrophy (more than a 10% increase in occupation ratio) and 33 (17.3%) worsening (more than a 10% decrease). Various clinical factors such as age tear size, or initial degree of atrophy did not affect the change of atrophy. However, the change of atrophy was related to repair integrity: cuff healing failure rate of 48.5% (16 of 33) in worsened atrophy; and 22.2% (18 of 81) in improved atrophy (p = 0.007). Conclusions The supraspinatus muscle atrophy as measured by occupation ratio could be improved postoperatively in case of successful cuff repair. PMID:23467404

  9. 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...

  10. Early permanent disappearance of abnormal muscle response during microvascular decompression for hemifacial spasm: a retrospective clinical study.

    Science.gov (United States)

    Jiang, Chengrong; Xu, Wu; Dai, Yuxiang; Lu, Tianyu; Jin, Wei; Liang, Weibang

    2016-12-15

    The objective of this study is to explore the cause of early abnormal muscle response (AMR) disappearance during microvascular decompression for hemifacial spasm and the clinical outcomes of these patients. Three hundred seventy-two patients received microvascular decompression (MVD) under intraoperative electrophysiological monitoring in Nanjing Drum Tower Hospital in 2014; the characteristic AMR of HFS was observed in 359 patients during the operation. And the 359 patients were divided into two groups based on whether AMR had remained before the beginning of the decompression procedure for offending vessels. Thirty-three patients who showed a permanent disappearance of AMR before the beginning of decompression were regarded as group I. Dural opening and the succeeding CSF drainage produced a permanent disappearance of AMR in 13. During the dissection of lateral cerebellomedullary cistern, a permanent disappearance of AMR was found in 20 patients. Thirty-two patients were cured immediately; delayed resolution (7 days after surgery) was found in one patient. No complications were observed and no recurrence was found during the follow-up period in the 33 patients. In the other 326 patients (group II), AMR disappeared temporarily before the beginning of the decompression procedure for offending vessels in 42 patients. After decompression, AMR disappeared completely in 305 patients. Two hundred sixty-seven patients were cured immediately and 57 patients got a delayed resolution (2 days to 45 weeks after surgery). The two left did not get a complete abolition of spasm. Three cases of hearing loss, one hoarseness, and nine delayed facial paralysis were observed. The reason of early abnormal muscle response disappearance may be that the degree of neurovascular compression was not serious; these patients were more likely to get an immediate cure. Continuous intraoperative electrophysiological monitoring of AMR is necessary.

  11. Genetics Home Reference: multiple system atrophy

    Science.gov (United States)

    ... Home Health Conditions multiple system atrophy multiple system atrophy Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Multiple system atrophy is a progressive brain disorder that affects movement ...

  12. Very severe spinal muscular atrophy (Type 0).

    Science.gov (United States)

    Al Dakhoul, Suleiman

    2017-01-01

    This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth. The patient was homozygously deleted for exon 7 and exon 8 of the survival motor neuron gene 1. Very severe SMA should be considered in the differential diagnosis of respiratory distress at birth, and more research should be dedicated to investigate the genetic determinants of its widely variable phenotypes.

  13. Cerebellar and cerebral atrophy in trichothiodystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Hye-Kyung; Sargent, Michael A.; Poskitt, Kenneth J. [British Columbia Children' s Hospital, Department of Radiology, Vancouver, BC (Canada); Prendiville, Julie S. [British Columbia Children' s Hospital, Division of Paediatric Dermatology, Department of Paediatrics, Vancouver, BC (Canada)

    2005-10-01

    Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matter, which is similar to the previously described cases. In addition, there was progressive cerebellar and cerebral atrophy, which has not been well documented in association with trichothiodystrophy. (orig.)

  14. The inheritance of peripapillary atrophy

    NARCIS (Netherlands)

    Healey, Paul R.; Mitchell, Paul; Gilbert, Clare E.; Lee, Anne J.; Ge, Dongliang; Snieder, Harold; Spector, Timothy D.; Hammond, Christopher J.

    2007-01-01

    PURPOSE. To estimate the relative importance of genes and environment in peripapillary atrophy type beta (beta-PPA) in a classic twin study. METHODS. Female twin pairs (n = 506) aged 49 to 79 years were recruited from the St. Thomas' UK Adult Twin Registry. Peripapillary atrophy was identified from

  15. Espasmo hemifacial: resultados do tratamento cirúrgico em 14 casos

    Directory of Open Access Journals (Sweden)

    Rui R. D. Carvalho

    1973-06-01

    Full Text Available Quatorze pacientes com espasmo hemifacial foram submetidos a exploração cirúrgica e neurolise do 7º par craniano no ângulo ponto-cerebelar. Em 7 pacientes havia indubitável compressão do nervo facial por alça anômala da artéria cerebelar anterior e inferior sendo que um paciente também apresentava malformação de Arnold-Chiari. Em um paciente havia aracnoidite envolvendo o nervo. Em 6 outros, o nervo achava-se aparentemente livre. Houve alívio imediato e duradouro do espasmo em 10 pacientes, 2 permaneceram inalterados e um apresentou recidiva após 10 meses. Houve um óbito no pós-operatório imediato, conseqüente a traumatismo craniano por queda do paciente.

  16. Sexual Well-Being in Patients with Blepharospasm, Spasmodic Torticollis, and Hemifacial Spasm: A Pilot Study

    Science.gov (United States)

    Perozzo, Paola; Salatino, Adriana; Cerrato, Paolo; Ricci, Raffaella

    2016-01-01

    Mood, anxiety, and other psychological symptoms are common in dystonic patients suffering from blepharospasm (BSP) and spasmodic torticollis (ST). Since sexual well-being is an important aspect of mental health, here, we investigated whether these patients may also experience a worsening of their sexual life. In particular, quality of sexual life was evaluated in patients suffering from BSP (N = 30), ST (N = 30), and in a control group of patient with Hemifacial spasm (HFS; N = 30), undergoing botulinum toxin type A therapy. A group of 30 age-matched healthy volunteers constituted an additional control group. Patients were evaluated just before the periodic injection of botulinum toxin. Sexual functioning was assessed using the Sexual Functioning Inventory, a reduced form of the Golombok Rust Inventory, previously employed in patients with Parkinson’s disease. Depression (Beck Depression Inventory) and anxiety (STAI-X1/X2) were also assessed. Results revealed that sexual functioning was significantly affected in patients with BSP, ST, and HFS with respect to healthy controls. Dystonic patients manifested more sexual dysfunction than patients with HFS. Overall, females had a poorer quality of sexual life than males and, among females, women with BSP were the most dysfunctional. Psychological symptoms were present in patients with dystonia, but not in patients with HFS. As discussed in the paper, several factors might be taken into account to explain worse quality of sexual life in patients with dystonia compared to patients with hemifacial spasm. Among them an important role might be played by the central origin of dystonia pathophysiology (i.e., altered activity of cortico-striato-thalamic-cortical circuits). Future investigations are necessary to further explore these preliminary findings, considering that this is the first time that sexual well-being is evaluated in patients with BSP, ST, and HFS, and comparable data are not available. PMID:27761118

  17. Sexual Well-Being in Patients with Blepharospasm, Spasmodic Torticollis, and Hemifacial Spasm: A Pilot Study.

    Science.gov (United States)

    Perozzo, Paola; Salatino, Adriana; Cerrato, Paolo; Ricci, Raffaella

    2016-01-01

    Mood, anxiety, and other psychological symptoms are common in dystonic patients suffering from blepharospasm (BSP) and spasmodic torticollis (ST). Since sexual well-being is an important aspect of mental health, here, we investigated whether these patients may also experience a worsening of their sexual life. In particular, quality of sexual life was evaluated in patients suffering from BSP (N = 30), ST (N = 30), and in a control group of patient with Hemifacial spasm (HFS; N = 30), undergoing botulinum toxin type A therapy. A group of 30 age-matched healthy volunteers constituted an additional control group. Patients were evaluated just before the periodic injection of botulinum toxin. Sexual functioning was assessed using the Sexual Functioning Inventory, a reduced form of the Golombok Rust Inventory, previously employed in patients with Parkinson's disease. Depression (Beck Depression Inventory) and anxiety (STAI-X1/X2) were also assessed. Results revealed that sexual functioning was significantly affected in patients with BSP, ST, and HFS with respect to healthy controls. Dystonic patients manifested more sexual dysfunction than patients with HFS. Overall, females had a poorer quality of sexual life than males and, among females, women with BSP were the most dysfunctional. Psychological symptoms were present in patients with dystonia, but not in patients with HFS. As discussed in the paper, several factors might be taken into account to explain worse quality of sexual life in patients with dystonia compared to patients with hemifacial spasm. Among them an important role might be played by the central origin of dystonia pathophysiology (i.e., altered activity of cortico-striato-thalamic-cortical circuits). Future investigations are necessary to further explore these preliminary findings, considering that this is the first time that sexual well-being is evaluated in patients with BSP, ST, and HFS, and comparable data are not available.

  18. Sexual well-being in patients with blepharospasm, spasmodic torticollis and hemifacial spasm: a pilot study

    Directory of Open Access Journals (Sweden)

    Paola Perozzo

    2016-10-01

    Full Text Available Mood, anxiety and other psychological symptoms are common in dystonic patients suffering from blepharospam (BSP and spasmodic torticollis (ST. Since sexual well-being is an important aspect of mental health, here, we investigated whether these patients may also experience a worsening of their sexual life. In particular, quality of sexual life was evaluated in patients suffering from BSP (N=30, ST (N=30, and in a control group of patient with Hemifacial spasm (HFS; N=30, undergoing botulinum toxin type A therapy. A group of 30 age-matched healthy volunteers constituted an additional control group. Patients were evaluated just before the periodic injection of botulinum toxin. Sexual functioning was assessed using the Sexual Functioning Inventory (SFI, a reduced form of the Gollombok Rust Inventory, previously employed in patients with Parkinson’s disease. Depression (Beck Depression Inventory and anxiety (STAI-X1/X2 were also assessed. Results revealed that sexual functioning was significantly affected in patients with BSP, ST, and HFS with respect to healthy controls. Dystonic patients manifested more sexual dysfunction than patients with HFS. Overall, females had a poorer quality of sexual life than males and, among females, women with BSP were the most dysfunctional. Psychological symptoms were present in patients with dystonia, but not in patients with HFS. As discussed in the paper, several factors might be taken into account to explain worse quality of sexual life in patients with dystonia compared to patients with hemifacial spasm. Among them an important role might be played by the central origin of dystonia pathophysiology (i.e. altered activity of cortico-striato-thalamic-cortical circuits. Future investigations are necessary to further explore these preliminary findings, considering that this is the first time that sexual well-being is evaluated in patients with BSP, ST and HFS, and comparable data are not available.

  19. Relation between the persistence of an abnormal muscle response and the long-term clinical course after microvascular decompression for hemifacial spasm.

    Science.gov (United States)

    Tobishima, Hana; Hatayama, Toru; Ohkuma, Hiroki

    2014-06-17

    Mentalis muscle responses to electrical stimulation of the zygomatic branch of the facial nerve are considered abnormal muscle responses (AMRs) and can be used to monitor the success of decompression in microvascular decompression (MVD) surgery. The aim of this study was to compare the long-term outcome of MVD surgery in which the AMR disappeared to the outcome of surgery in which the AMR persisted. From 2005 to 2009, 131 patients with hemifacial spasm received MVD surgery with intraoperative monitoring of AMR. At 1 week postsurgery, spasms had resolved in 82% of cases in the AMR-disappearance group and 46% of cases in the persistent-AMR group, mild spasms were present in 10% of cases in the AMR-disappearance group and 31% of cases in the persistent-AMR group, and moderate were present spasms in 8% of cases in the AMR-disappearance group and 23% of cases in the persistent-AMR group (P spasms had resolved in 92% of cases in the AMR-disappearance group and 84% of cases in the persistent-AMR group, mild spasms were present in 6% of cases in the AMR-disappearance group and 8% of cases in the persistent-AMR group, and moderate spasms were present in 3% of cases in the AMR-disappearance group and 8% of the cases in the persistent-AMR group (P = 0.56). These results indicate that the long-term outcome of MVD surgery in which the AMR persisted was no different to that of MVD surgery in which the AMR disappeared.

  20. Iodine 123-labeled meta-iodobenzylguanidine myocardial scintigraphy in the cases of idiopathic Parkinson`s disease, multiple system atrophy, and progressive supranuclear palsy

    Energy Technology Data Exchange (ETDEWEB)

    Yoshita, Mitsuhiro; Hayashi, Michiyuki; Hirai, Shunsaku [Tokyo Metropolitan Neurological Hospital (Japan)

    1997-06-01

    To investigate cardiac sympathetic function in Parkinson`s disease (PD), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP), {sup 123}I-MIBG myocardial scintigraphy was performed in 25 patients with PD, 25 patients with MSA, 14 patients with PSP, and 20 control subjects. In planar imaging studies, the heart-to-mediastinum average count ratio (H/M) was calculated for both early and delayed images. The mean value of H/M in patients with PD was significantly lower than in those with MSA, PSP, or no disease. Regardless of disease severity or intensity of anti-parkinsonian pharmacotherapy, mean values for H/M were always low in patients with PD. The mean values of H/M in patients with MSA and PSP were significantly lower than in controls. There was no significant difference between the mean value of H/M in MSA with orthostatic hypotension (OH) and that in MSA without OH, and also there was no significant difference between the mean value of H/M in MSA with striatonigral degeneration and that in MSA with olivopontocerebellar atrophy. Although the mean value of H/M in PSP with amitriptyline treatment was significantly lower than that in PSP patients without amitriptyline treatment, there was no significant difference between the mean value of H/M in PSP patients without amitriptyline treatment and that in controls. There was no correlation between H/M and disease duration in those three akinetic-rigid disorders that we have studied here. Thus, PD may have an abnormality of cardiac sympathetic function which has not been detected by previous cardiovascular autonomic studies. Particularly in early stages, {sup 123}I-MIBG myocardial scintigraphy may help to differentiate PD from MSA and PSP. (K.H.)

  1. A型肉毒毒素注射治疗眼睑及面肌痉挛的效果与护理%Effect and nursing of botulinum toxin type A injection treatment of blepharospasm and hemifacial spasm

    Institute of Scientific and Technical Information of China (English)

    刘敬楠; 董桂霞

    2010-01-01

    Objective To observe the effect of botulinum toxin type A injection treatment of blepharospasm and hemifacial spasm. Methods One hundred and five patients with blepharospasm and hemifacial spasm were given botulinum toxin A injecting on local face, the effect was analyzed. And mental nursing, injection nursing and health education were performed. Results After telephone follow-up or return visit, 105 cases were effective in 1 to 3 days on average (1.1 ±0.5) days; complete remission in 64 cases (60.95% ), apparent relieved in 28 cases (26.67%), partial remission in 6 cases (5.71% ). No systemic toxicity and allergic reactions occurred. Local side effects were minor and short. Conclusions Botulinum toxin A can effectively control blepharospasm and hemifacial spasm by injecting a little dose on local muscle. Attentive nursing measures were important to reduce physical and mental suffering for patients.%目的 探讨小剂量A型肉毒毒素多点注射治疗眼睑及面肌痉挛的临床疗效、安全性及护理方法.方法 105例眼睑及面肌痉挛患者,给予小剂量A型肉毒毒素多点注射治疗,进行复诊或电话随访,记录复诊、电话随访的临床指标,并给予心理护理、注射护理和健康教育.结果 经过电话随访或复诊,105例患者均在1~3 d内显效,平均(1.1±0.5)d;完全缓解64例(60.95%),明显缓解28例(26.67%),部分缓解6例(5.71%).无全身中毒及过敏反应,局部不良反应轻微、短暂.结论 小剂量A型肉毒毒素多点注射治疗眼睑及面肌痉挛的临床疗效确切,安全性较高,针对患者给予细心周到的护理,对患者康复、减轻其身心痛苦具有重要意义.

  2. The Significance of Intraoperative Electromyographic “Lateral Spread” in Predicting Outcome of Microvascular Decompression for Hemifacial Spasm

    OpenAIRE

    Eckardstein, Kajetan von; Harper, Charles; Castner, Marina; Link, Michael

    2014-01-01

    Objectives During microvascular decompression (MVD) of the facial nerve for hemifacial spasm (HFS), an abnormal muscle response can be recorded upon stimulation of the facial nerve, also known as the lateral spread response. This response may vanish after MVD and has been associated with a successful outcome. The purpose of this study was to determine if resolution of lateral spread correlated with the elimination of HFS in a single surgeon's experience.

  3. No clinical or neurophysiological evidence of botulinum toxin diffusion to non-injected muscles in patients with hemifacial spasm.

    Science.gov (United States)

    Lorenzano, C; Bagnato, S; Gilio, F; Fabbrini, G; Berardelli, A

    2006-04-01

    Botulinum toxin injected into a muscle may diffuse to nearby muscles thus producing unwanted effects. In patients with hemifacial spasm, we evaluated clinically and neurophysiologically, whether botulinum toxin type A (BoNT-A) diffuses from the injection site (orbicularis oculi) to untreated muscles (orbicularis oris from the affected side and orbicularis oculi and oris from the unaffected side). We studied 38 patients with idiopathic hemifacial spasm. Botulinum toxin was injected into the affected orbicularis oculi muscle alone (at 3 standardized sites) at a clinically effective dose. Patients were studied before (T0) and 3-4 weeks after treatment (T1). We evaluated the clinical effects of botulinum toxin and muscle strength in the affected and unaffected muscles. We also assessed the peak-to-peak amplitude compound muscle action potential (CMAP) recorded from the orbicularis oculi and orbicularis oris muscles on both sides after supramaximal electrical stimulation of the facial nerve at the stylomastoid foramen. In all patients, botulinum toxin treatment reduced muscle spasms in the injected orbicularis oculi muscle and induced no muscle weakness in the other facial muscles. The CMAP amplitude significantly decreased in the injected orbicularis oculi muscle, but remained unchanged in the other facial muscles (orbicularis oris muscle on the affected side and contra-lateral unaffected muscles). In conclusion, in patients with hemifacial spasm, botulinum toxin, at a clinically effective dose, induces no clinical signs of diffusion and does not reduce the CMAP size in the nearby untreated orbicularis oris or contralateral facial muscles.

  4. 放射外科治疗面肌抽搐的初步研究%Treatment of idiopathic hemifacial spasm with with radiosurgery or hypofractionated stereotactic radiotherapy:preliminary results

    Institute of Scientific and Technical Information of China (English)

    吕学明; 袁绍纪; 孙希炎; 陈援朝; 吕福林; 吕晓彦; 解相礼; 许呈来

    2011-01-01

    Objective In this article we present four patients affected by idiopathic hemifa-cial spasm, refractory to medical therapy and botulinum toxin injections, who were treated by ra-diosurgery and hypofractionated stereotactic radiotherapy in four cases. Methods Radiosurgery, with a single dose of 5 Gy, was used in the first patient affected by idiopathic hemifacial spasm and autoimmune polyneuropathy with severe hypoacusia; hypofractionated stereotactic radiotherapy, with 15 Gy in 5 fractions of 3 Gy each, was preferred in the other 3 cases. In all patients, the target consisted of the vestibulocochlear-facial bundle immediately before its entry into the internal acoustic foramen. Results A marked improvement of symptoms was observed in 2 patients, and almost complete disappearance in the other cases, with no complications, particularly, auditory. Conclusion Radiosurgery or hypofractionated stereotactic radiotherapy could represent a therapeutic alternative to microvascular decompression for idiopathic hemifacial spasm for patients not suitable for surgery.%目的 探讨放射治疗对原发性面肌抽搐的效果及并发症分析.方法 其中1例听觉减弱的患者单次给予一次性剂量8 Gy治疗,其余3位听觉正常患者给予5天5次连续不同部位每次3Gy剂量,共计15Gy.所有患者靶点选择在面听神经束出脑干处至进人内听道前部分.结果 2例患者症状消失,1例症状明显减轻.另1例口服药物治疗下症状未见发作.未见明显并发症,特别是听、面神经功能无损伤.4例患者均放疗后2~4周短期随访及18个月到42个月的中期随访,放疗结果满意.结论 放疗治疗原发性面肌抽搐仍为不适于手术患者的一种治疗选择方法,疗效确切.

  5. Therapeutic observation of superficial needling for hemifacial spasm%皮下针疗法治疗面肌痉挛疗效观察

    Institute of Scientific and Technical Information of China (English)

    温木生

    2015-01-01

    目的:观察皮下针疗法治疗面肌痉挛的疗效。方法:选择面肌痉挛患者80例,按随机数字表随机分为两组,每组40例。观察组予以皮下针刺局部阿是穴及腕踝针上1、上2和上3穴治疗,对照组使用常规针刺法。两组均每日1次,7次为一个疗程,治疗2个疗程后观察疗效。结果:观察组总有效率和痊愈率分别为97.5%和57.5%,对照组分别为85.0%和37.5%,两组痊愈率及总有效率差异均有统计学意义(P<0.05)。结论:皮下针治疗面肌痉挛疗效优于常规针刺。%Objective:To observe the therapeutic efficacy of superficial needling in treating hemifacial spasm. Methods:Eighty patients with facial spasm were randomized into two groups by the random number table, 40 cases in each group. The observation group was intervened by superficial needling at local Ashi points and wrist-ankle acupuncture at the Upper 1, Upper 2 and Upper 3 points; while the control group was by ordinary acupuncture. For both groups, the treatment was given once a day, 7 times as a treatment course, and the therapeutic efficacy was evaluated after 3 courses. Results:The total effective rate and recovery rate were respectively 97.5% and 57.5% in the observation group versus 85.0% and 37.5% in the control group, and the differences were statistically significant (P Conclusion:Superficial needling can produce a more significant efficacy in treating hemifacial spasm than ordinary acupuncture.

  6. [A case of an anti-Ma2 antibody-positive patient presenting with variable CNS symptoms mimicking multiple system atrophy with a partial response to immunotherapy].

    Science.gov (United States)

    Shiraishi, Wataru; Iwanaga, Yasutaka; Yamamoto, Akifumi

    2015-01-01

    A 70-year-old man with a 5-month history of progressive bradykinesia of the bilateral lower extremities was admitted to our hospital. At the age of 64, he underwent proximal gastrectomy for gastric cancer. He also had a history of subacute combined degeneration of the spinal cord since the age of 67, which was successfully treated with vitamin B12 therapy. Four weeks before admission to our hospital, he admitted himself to his former hospital complaining of walking difficulty. Two weeks later, however, his symptoms progressed rapidly; he was immobilized for two weeks and did not respond to the vitamin therapy. On admission to our hospital, he showed moderate paralysis of the lower extremities, cog-wheel rigidity of the four extremities, and dystonic posture of his left hand. He also showed orthostatic hypotension and vesicorectal disorders. Blood examination and cerebrospinal fluid analysis revealed no remarkable abnormalities. Electroencephalography showed frontal dominant, high voltage, sharp waves. His brain and spinal MRI revealed no notable abnormalities. We suspected autoimmune disease and commenced one course of intravenous methylprednisolone therapy, resulting in improvement of the parkinsonism and orthostatic hypotension. Based on these results, we investigated possible neural antigens and detected anti-Ma2 antibody. In addition to limbic encephalitis, anti-Ma2 antibody-positive neural disorders are characterized by rapid eye movement sleep behavior disorders or parkinsonism. Here, we report an anti-Ma2 antibody positive patient presenting variable CNS symptoms mimicking multiple system atrophy, who responded to immunotherapy.

  7. Testicular atrophy secondary to a large long standing incarcerated inguinal hernia

    Directory of Open Access Journals (Sweden)

    Nikolaos S Salemis

    2011-09-01

    Full Text Available Testicular atrophy is a rare but distressing complication of inguinal hernia repair. Apart from the postsurgical etiology, ischemic orchitis and subsequent testicular atrophy may occur secondary to compression of the testicular vessels by chronically incarcerated hernias. We present a rare case of testicular atrophy secondary to a large long standing incarcerated inguinal hernia of 2-decade duration in a 79-year-old man. Testicular atrophy should be always considered in long standing incarcerated inguinal hernias and patients should be adequately informed of this possibility during the preoperative work-up. Preoperative scrotal ultrasonography can be used to determine testicular status in this specific group of patients.

  8. Simultaneous display of MRA and MPR in detecting vascular compression for trigeminal neuralgia or hemifacial spasm: comparison with oblique sagittal views of MRI

    Energy Technology Data Exchange (ETDEWEB)

    Arbab, A.S.; Aoki, S.; Yoshikawa, T.; Kumagai, H.; Araki, T. [Department of Radiology, Yamanashi Medical University, Yamanashi 409-3898 (Japan); Nishiyama, Y.; Nagaseki, Y.; Nukui, H. [Department of Neurosurgery, Yamanashi Medical University, Yamanashi 409-3898 (Japan)

    2000-07-01

    A new technique, simultaneous display of magnetic resonance angiography (MRA) and multiplanar reconstruction (MPR), was performed by a workstation to identify the involved vessels in patients with trigeminal neuralgia (TN) or hemifacial spasm (HFS), and the results were compared with those of oblique sagittal MRI technique. Twelve patients with either HFS or TN were prospectively assessed by simultaneous display of MRA and MPR, and oblique sagittal techniques, to point out the neurovascular compression and to identify the involved vessels. Three-dimensional (3D) time-of-flight (TOF) spoiled gradient-echo (SPGR) images were acquired to create MRA and MPR. Oblique sagittal views were also created and displayed on films. A total of 15 vessels in 12 patients were identified as compressing vessels during surgery. Simultaneous display of MRA and MPR technique pointed out the presence of vessels at and/or around root entry/exit zone (REZ) in all 12 patients, but proper identification by the name of the individual vessel was correct in 13 of 15 cases. However, oblique sagittal technique indicated the presence of vessels at and/or around REZ in 11 patients, but only 8 of 14 vessels were correctly identified. Our new method, simultaneous display of MRA-MPR, facilitated correct identification of the involved vessels compared with the oblique sagittal view method. (orig.)

  9. [Guiding values of facial nerve 3D-TOF-MRA and 3D-FIESTA scan for primary hemifacial spasm operation].

    Science.gov (United States)

    Wu, Guo-qing; Wang, Lei; Yin, Wei-ning; Liu, Xian-ming; Li, Chuan-feng; Wu, Guo-hong

    2013-12-03

    To explore the operative guiding values of facial nerve three-dimensional time-of-flight magnetic resonance angiography (3D-TOF-MRA) and three-dimensional fast imaging employing steady state acquisition three-dimensional fast imaging employing steady state acquisition (3D-FIESTA) scan. A total of 125 cases of primary hemifacial spasm was treated at our hospital from 2004 to 2012. Among them, 80 cases received preoperative facial nerve MRA scan. The imaging and intraoperative findings were compared to determine the responsible blood vessels. Responsible blood vessels were found in all 80 cases. Sixty patients (75%) had the involvement of single vessel of anterior inferior cerebellar artery (AICA, n = 57), posterior inferior cerebellar artery (PICA, n = 1), superior cerebellar artery (SCA, n = 1) and vertebral artery (VA, n = 1). Two or more vessels were implicated in 9 patients (11.25%). The culprits were AICA+ internal auditory artery (n = 8) and PICA+ internal auditory artery (n = 1). The source of responsible vessels of 11 cases could not be determined before surgery. Through intraoperative anatomy, 59 patients had single vessel lesions, including AICA (n = 53), PICA (n = 4), SCA (n = 1) and VA (n = 1). Among 14 cases of multiple vessels, there were AICA + internal auditory artery (n = 7), internal auditory artery + PICA (n = 2), AICA + brain stem perforating artery (n = 3) and AICA + vein (n = 2). Seven cases were uncertain. No significant statistical difference existed between two groups. Facial nerve 3D-TOF-MRA and 3D-FIESTA scan can identify the status of responsible blood vessels to guide operations.

  10. [Susceptibility gene in multiple system atrophy (MSA)].

    Science.gov (United States)

    Tsuji, Shoji

    2014-01-01

    To elucidate molecular bases of multiple system atrophy (MSA), we first focused on recently identified MSA multiplex families. Though linkage analyses followed by whole genome resequencing, we have identified a causative gene, COQ2, for MSA. We then conducted comprehensive nucleotide sequence analysis of COQ2 of sporadic MSA cases and controls, and found that functionally deleterious COQ2 variants confer a strong risk for developing MSA. COQ2 encodes an enzyme in the biosynthetic pathway of coenzyme Q10. Decreased synthesis of coenzyme Q10 is considered to be involved in the pathogenesis of MSA through decreased electron transport in mitochondria and increased vulnerability to oxidative stress.

  11. Quantitative analysis of the muscle atrophy in osteoarthritis of the hip by computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Tajiri, Masahiro; Hieda, Hiroshi (Kurume Univ., Fukuoka (Japan). School of Medicine)

    1984-06-01

    Twenty normal hips and 30 cases of the unilateral osteoarthritic hips were examined by computed tomography in order to measure the atrophy of the muscles around the hip. We discussed the relationship among the muscle atrophy, stages of the osteoarthritic hip, and the clinical score of the JOA's criteria. The results were as follows: 1. There is no difference between the muscle volume of both sides in normal hips. 2. Atrophy of the gluteus maximus and the gluteus medius were already observed at the preosteoarthritic stage and the gluteus minimus, the tensor fasciae latae, iliopsoas revealed atrophy at the late stage. 3. There was a negative correlation between the percentage of atrophy of the gluteus maximus and the clinical score of the JOA's criteria. 4. In cases of normal position of the greater trochanter, artophy of the gluteus medius was more distinguished in cases of abductors of grade 4 by MMT than in those of normal grade.

  12. Idiopathic atrophie blanche.

    Science.gov (United States)

    Amato, Lauretta; Chiarini, Caterina; Berti, Samantha; Massi, Daniela; Fabbri, Paolo

    2006-01-01

    clinical, serologic, histopathologic, and immunopathologic findings, a diagnosis of idiopathic atrophie blanche was made. The patient was treated with dapsone (50 mg p.o. q.d.) and pentoxifylline (400 mg p.o. t.i.d.) with pain relief and complete resolution of the ulcerations after 6 weeks of therapy.

  13. Misdiagnosis of hemifacial spasm is a frequent event in the primary care setting

    Directory of Open Access Journals (Sweden)

    Alberto R. M. Martinez

    2014-02-01

    Full Text Available Primary hemifacial spasm (HFS is characterized by irregular and involuntary contraction of the muscles innervated by the ipsilateral facial nerve. Treatment controls symptoms and improves quality of life (QoL. Objective : Evaluate the initial diagnosis and treatment of HFS prior to referral to a tertiary center. Method : We interviewed through a standard questionnaire 66 patients currently followed in our center. Results : Mean age: 64.19±11.6 years, mean age of symptoms onset: 51.9±12.5 years, male/female ratio of 1:3. None of the patients had a correct diagnosis in their primary care evaluation. Medication was prescribed to 56.8%. Mean time from symptom onset to botulinum toxin treatment: 4.34 ±7.1 years, with a 95% satisfaction. Thirty percent presented social embarrassment due to HFS. Conclusion : Despite its relatively straightforward diagnosis, all patients had an incorrect diagnosis and treatment on their first evaluation. HFS brings social impairment and the delay in adequate treatment negatively impacts QoL.

  14. Combined maxillary and mandibular distraction osteogenesis in patients with hemifacial microsomia.

    Science.gov (United States)

    Sant'Anna, Eduardo Franzotti; Lau, Geórgia W T; Marquezan, Mariana; de Souza Araújo, Mônica Tirre; Polley, John W; Figueroa, Alvaro A

    2015-05-01

    Hemifacial microsomia is a deformity of variable expressivity with unilateral hypoplasia of the mandible and the ear. In this study, we evaluated skeletal soft tissue changes after bimaxillary unilateral vertical distraction. Eight patients (4 preadolescents 4 adolescents) each with a grade II mandibular deformity underwent a LeFort I osteotomy and an ipsilateral horizontal mandibular ramus osteotomy. A semiburied distraction device was placed over the ramus, and intermaxillary fixation was applied. Anteroposterior cephalometric and frontal photographic analyses were conducted before and after distraction. Statistics were used to analyze the preoperative and postoperative changes. Cephalometrically, the nasal floor and the occlusal and gonial plane angles decreased. The ratios of affected-unaffected ramus and gonial angle heights improved by 15% and 20%, respectively. The position of menton moved toward the midline. The photographic analysis showed a decrease of the nasal and commissure plane angles, and the chin moved to the unaffected side. The parallelism between the horizontal skeletal and soft tissue planes improved, with an increase in the affected side ramus height and correction of the chin point toward the midline. Simultaneous maxillary and mandibular distraction improved facial balance and symmetry. Patients in the permanent dentition with fixed orthodontic appliances and well-aligned dental arches responded well to this intervention. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  15. A retrospective analysis of growth of the constructed condyle-ramus in children with hemifacial microsomia.

    Science.gov (United States)

    Mulliken, J B; Ferraro, N F; Vento, A R

    1989-10-01

    A retrospective analysis of changes in costochondral rib grafts used to construct the condyle-ramus in children with hemifacial microsomia (HFM) was made. The mean age at surgical correction was 6.5 years, and the average follow-up was 4.5 years. Direct measurements were made on panoramic radiographs. The condyle-ramus length was expressed as a percentage change comparing the constructed with the normal side. During the first 2 postoperative years, there was either no change or a slight decrease in the length of the rib graft. After 2 years, however, the costochondral graft elongated at a slow, irregular rate. The mode change was 11 percent over the postoperative study period. In four patients who exhibited rapid growth of the normal condyleramus (greater than the mean change of 0.94 cm), the constructed side failed to keep pace. In another group of four patients who exhibited moderate elongation of the normal side, the grafted side grew commensurately or demonstrated greater than normal percentage change in length. There was no correlation between the initial size of the costochondral graft, age at time of operation, or presenting type of mandibular deformity. These findings are discussed in terms of the intrinsic growth and the functional matrix theories of mandibular development.

  16. Congenital infiltrating lipomatosis of face: case report and review of literature.

    Science.gov (United States)

    Shenoy, Archana R; Nair, Keerthi K; Lingappa, Ashok; Shetty, K Sadashiva

    2015-01-01

    Hemifacial hyperplasia is a rare condition causing unilateral enlargement of all tissues. We report a case of progressive facial asymmetry caused by congenital infiltrating lipomatosis of the face in a 6-year-old boy. The approach to diagnosis in our case is discussed along with a review of cases reported in the literature.

  17. Blefarospasmo essencial e espasmo hemifacial: características dos pacientes, tratamento com toxina botulínica A e revisão da literatura

    OpenAIRE

    Schellini Silvana Artioli; Matai Olívia; Igami Thais Zamudio; Padovani Carlos Roberto; Padovani Carlos Pereira

    2006-01-01

    OBJETIVO: Conhecer as características dos portadores de blefarospasmo essencial e espasmo hemifacial, assim como a resposta ao tratamento utilizando toxina botulínica A. MÉTODOS: Trinta e quatro portadores de blefarospasmo essencial ou espasmo hemifacial foram avaliados quanto a idade, sexo, queixas oculares, tempo de existência da doença, tipo de comprometimento, complicações e resultado do tratamento com toxina botulínica A. RESULTADOS: A mediana da idade dos pacientes foi de 63 anos e a mé...

  18. Optic atrophy and glaucomatous cupping.

    Science.gov (United States)

    Radius, R L; Maumenee, A E

    1978-02-01

    We reviewed 170 eyes of 112 patients with optic atrophy from various causes. Special attention was directed towards measured cup:disk ratios as well as presence of glaucomatous-like cupping of the optic nerve head. We observed a small but significant increase in nerve head cupping in eyes with optic atrophy when compared to contralateral eyes, as well as to eyes of 50 diabetic patients. No characteristic glaucomatous disk changes were documented. We evaluated these findings with respect to possible causes of glaucomatous disk and field changes.

  19. 53例脊肌萎缩症Ⅱ型患者的临床特征①%Clinical Features of Spinal Muscular Atrophy TypeⅡ:53 Cases Report

    Institute of Scientific and Technical Information of China (English)

    2013-01-01

    Objective To investigate the clinical features of spinal muscular atrophy typeⅡ. Methods The data of clinical manifesta-tion, laboratory data, onset, diagnosis, and rehabilitation of 53 outpatients suffering from spinal muscular atrophy typeⅡ(SMA-Ⅱ) were analyzed. Results Among 53 patients with SMA-Ⅱconfirmed by molecular genetic tests, 27 patients were male while 26 were female. The mean age was 3.35 years (ranged 0.75~7.8 years), and the age receiving gene diagnosis was 17.27 months. Only 15%had a family history, and abnormalities were found in 23%patients' mothers during pregnancy. 83.4%of them had water choke cough, while 87%expectoration weakness. None of them had cough assist machines and had regular spirometry monitoring. 53%of the patients took semi-liquid diet, how-ever, none of them used stomach tube. Symmetrical flaccid paralysis was so remarkable, even muscle strength of lower limbs in 87.7%of these patients were only grades 1-2. 92%had scoliosis, while 83%had tendon contracture. EMG showed extensive neurogenic changes. All children did not accept normal pre-school education, and 85%patients did not accept formal rehabilitation. Conclusion Most of phenotype of SMA-Ⅱfor the children was similar and more severe in China. Most of the patient didn't get formal education, rehabilitation and care.%  目的探讨脊肌萎缩症(SMA)-Ⅱ型患者的临床特征。方法对门诊基因确诊的53例SMA-Ⅱ患者的临床和实验室资料给予分析,并进行问卷调查。结果男∶女为1.04∶1(27∶26)。本次就诊年龄为9个月~7.8岁,平均3.35岁。首次基因确诊平均年龄为17.27月龄。15%有家族史,其余均为散发。23%母亲孕期异常。87%患者反复感冒,咳痰无力,但均未进行常规肺活量监测,也未给予咳痰器辅助咳痰。83.4%患者有饮水呛咳。53%半流质饮食,均未予胃管辅助。所有患者均表现为四肢呈对称性、弛缓性瘫痪,下肢重于上肢,87.7%

  20. Types of SMA (Spinal Muscular Atrophy)

    Science.gov (United States)

    ... genes other than the SMN1 gene. Spinal Muscular Atrophy Respiratory Distress (SMARD) SMARD is a very rare ... and 50. It causes muscle weakness and wasting (atrophy) throughout the body, which is most noticeable in ...

  1. Genetics Home Reference: dentatorubral-pallidoluysian atrophy

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions DRPLA dentatorubral-pallidoluysian atrophy Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Dentatorubral-pallidoluysian atrophy , commonly known as DRPLA , is a progressive brain ...

  2. Evaluating Autologous Lipofilling for Parry-Romberg Syndrome-Associated Defects: A Systematic Literature Review and Case Report.

    Science.gov (United States)

    Rodby, Katherine A; Kaptein, Yvonne E; Roring, James; Jacobs, Ryan J; Kang, Vicky; Quinn, Karina P; Antony, Anuja K

    2016-05-01

    Parry-Romberg syndrome (PRS) is a rare craniofacial disease that causes progressive hemifacial atrophy of the soft tissue before spontaneously entering remission. Autologous fat grafting may provide a less invasive alternative, producing aesthetically pleasing results while avoiding the need for traditional microsurgical free flap coverage. A systematic review of the literature was conducted. Inclusion and exclusion criteria were applied. The case report highlights the technique using two-dimensional and three-dimensional photography. Our review yielded 31 articles in addition to our case describing 147 cases of lipofilling to correct PRS soft-tissue defects. Patients underwent an average of 2.2 procedures, receiving on average 95 mL of grafted fat. Disease severity was classified into mild (41%), moderate (42%), and severe (17%) in the identified patients. Increasing disease severity correlated with an increasing number of procedures and fat-grafting volumes to achieve adequate aesthetic outcomes (mean, 1.5 and 38 mL; 2.3 and 81 mL; 3.7 and 129 mL, respectively). Reported benefits over flap-based reconstructions included reductions in cost (40%), operative time (50%), donor-site morbidity (52%), and rate of complications (33%). Aesthetic benefits cited included improved skin quality (65%), more natural contours (1%), and more natural facial expressions (10%). Fat grafting for correction of PRS-associated soft-tissue defects is receiving heightened acceptance for its ability to restore natural facial contours. While additional fat-grafting procedures may be required with increased disease severity, autologous fat grafting may be a beneficial option as a sole modality to correct PRS-associated soft-tissue atrophy.

  3. The clinical,neuroimaging and electrophysiological presentations in 62 cases with multiple system atrophy%多系统萎缩患者的临床、影像及电生理分析

    Institute of Scientific and Technical Information of China (English)

    邱峰; 戚晓昆; 姚生; 李丽萍; 刘建国

    2009-01-01

    目的 探讨多系统萎缩(multiple system atrophy,MSA)的临床、影像以及电生理改变特点,为临床诊断提供依据.方法 对62例MSA患者的临床资料、神经影像学以及肌电图检查结果进行回顾性分析.结果 我们共收集拟诊MSA患者62例,其中MSA-A型29例(46.8 % ),主要临床特点表现为直立性低血压为主的自主神经系统症状;MSA-C型24例(38.7 % ),主要表现为小脑性共济失调;MSA-P型9例(14.5 % ),则以锥体外系症状为主.头颅MRI显示MSA-A型患者部分出现小脑病灶;MSA-C型患者主要病变在小脑、脑桥和延髓;MSA-P型患者病变主要在壳核.51例患者行肛门括约肌肌电图(external anal sphincter electromyography,EAS-EMG)检查,其中46例示典型神经源性损害;19例(30.6 % )曾被误诊为其他疾病.结论 MSA早期易漏诊或误诊,结合临床表现、神经影像学以及EAS-EMG检查,可提高MSA的诊断率.%Objective To evaluate the clinical,neuroimaging and electrophysiology features of 62 patients with multiple system atrophy(MSA).Methods Sixty-two cases with diagnosis of probable MSA were recruited in a retrospective studied.Clinical,neuroimage and external anal sphincter electromyography (EAS-EMG)data was retrospectively analyzed.Results In 62 cases(44 male and 18 female),the onset age was between 37 and 76.Among them,29 cases(46.8 % )were MSA-A,with orthostatie hypotension as the main clinical manifestation;24 cases(38.7 % )were MSA-C,with cerebellar ataxia ag the main chnical manifestation;9 cases(14.5 % )were MSA-P,with extrapyramidal symptoms as the main clinical manifestation.MRI showed that main lesion of MSA-A was in the cerebellum:that of MSA-C was in the cerebellum,pons and medulla;and that of MSA-P was in the putamen.Fifty-one cases did EAS-EMG and 46 cases showed neurogenie impairments.Nineteen cases were initially misdiagnosed with other diseases.Conclusions MSA is easy to be omitted or misdiagnosed at early stage.The diagnostie

  4. Pigmented paravenous chorioretinal atrophy with Coat′s like response

    Directory of Open Access Journals (Sweden)

    Manish Tandon

    2013-01-01

    Full Text Available Pigmented paravenous chorioretinal atrophy (PPCRA is an uncommon retinal disorder of unknown etiology that is neither well understood nor classified. We report an atypical case of PPCRA, associated with Coat′s like response (CLR in a 64-year-old man of Asian origin. Both the eyes were involved, though asymmetrically.

  5. Epidural anaesthesia in a child with possible spinal muscular atrophy

    NARCIS (Netherlands)

    Veen, A; Molenbuur, B; Richardson, FJ

    2002-01-01

    Spinal muscular atrophy (SMA) is a rare lower motor neurone disease in which anaesthetic management is often difficult as a result of muscle weakness and hypersensitivity to neuromuscular blocking agents. Neuraxial anaesthesia is controversial in these patients; however, some cases have been reporte

  6. Epidural anaesthesia in a child with possible spinal muscular atrophy

    NARCIS (Netherlands)

    Veen, A; Molenbuur, B; Richardson, FJ

    2002-01-01

    Spinal muscular atrophy (SMA) is a rare lower motor neurone disease in which anaesthetic management is often difficult as a result of muscle weakness and hypersensitivity to neuromuscular blocking agents. Neuraxial anaesthesia is controversial in these patients; however, some cases have been reporte

  7. Small bowel villous atrophy: celiac disease and beyond.

    Science.gov (United States)

    Elli, Luca; Branchi, Federica; Sidhu, Reena; Guandalini, Stefano; Assiri, Asaad; Rinawi, Firas; Shamir, Raanan; Das, Prasenjit; Makharia, Govind K

    2017-02-01

    Small bowel villous atrophy can represent a diagnostic challenge for gastroenterologists and pathologists. In Western countries small bowel atrophy and mild non-atrophic alterations are frequently caused by celiac disease. However, other pathology can mimic celiac disease microscopically, widening the differential diagnosis. The several novelties on this topic and the introduction of the device-assisted enteroscopy in the diagnostic flowchart make an update of the literature necessary. Areas covered: In this review, a description of the different clinical scenarios when facing with small bowel mucosal damage, particularly small bowel atrophy, is described. The published literature on this subject has been summarized and reviewed. Expert commentary: When an intestinal mucosal alteration is histologically demonstrated, the pathology report forms part of a more complex workup including serological data, clinical presentation and clinical history. A multidisciplinary team, including pathologists and enteroscopy-devoted endoscopists, is frequently required to manage patients with small bowel alterations, especially in cases of severe malabsorption syndrome.

  8. Prepontine Schwannoma Presenting With Atypical Facial Symptoms - A Case Report

    Directory of Open Access Journals (Sweden)

    Rishi Kumar Bali

    2005-01-01

    Full Text Available Face is an important landmark and any pathological condition affecting it has tremendous bearing on psychological make up of the patient. This report describes a rare case of a young female who presented with Hemifacial dysaesthesia complicated by ipsilateral masticatory complex dyskinesia.

  9. Aesthetic recovery of alveolar atrophy following autogenous onlay bone grafting using interconnected porous hydroxyapatite ceramics (IP-CHA) and resorbable poly-L-lactic/polyglycolic acid screws: case report

    National Research Council Canada - National Science Library

    Kubozono, Kazumi; Takechi, Masaaki; Ohta, Kouji; Ono, Shigehiro; Nakagawa, Takayuki; Fujimoto, Shinichi; Kamata, Nobuyuki

    2014-01-01

    ...) and bioresorbable poly-L-lactic/polyglycolic acid (PLLA-PGA) screws was utilized. A 51-year-old man had aesthetic complications related to alveolar atrophy following maxillary bone cyst extraction...

  10. The Association Between Neurocysticercosis and Hippocampal Atrophy is Related to Age.

    Science.gov (United States)

    Del Brutto, Oscar H; Issa, Naoum P; Salgado, Perla; Del Brutto, Victor J; Zambrano, Mauricio; Lama, Julio; García, Héctor H

    2017-01-11

    Neurocysticercosis (NCC) has been associated with hippocampal atrophy, but the prevalence and pathogenic mechanisms implicated in this relationship are unknown. Using a population-based, case-control study design, residents in a rural village (Atahualpa) aged ≥ 40 years with calcified NCC were identified as cases and paired to NCC-free individuals (control subjects) matched by age, sex, and level of education. Cases and control subjects underwent magnetic resonance imaging for hippocampal rating according to the Scheltens' scale for medial temporal atrophy and were interviewed to identify those with a clinical seizure disorder. The prevalence of hippocampal atrophy was compared between cases and control subjects by the use of the McNemar's test for correlated proportions. Seventy-five individuals with calcified NCC and their matched control subjects were included in the analysis. Hippocampal atrophy was noted in 26 (34.7%) cases and nine (12%) control subjects (odds ratio: 4.4; 95% confidence interval: 1.6-14.9, P atrophy, and the single control subject had normal hippocampi. This study confirms an association between NCC and hippocampal atrophy, and shows that this association is stronger in older age groups. This suggests that NCC-related hippocampal atrophy takes a long time to develop. © The American Society of Tropical Medicine and Hygiene.

  11. Frontoparietal cortical atrophy with gliosis in the gray matter of cerebral cortex: case report Atrofia cortical frontoparietal com gliose na substância cinzenta do córtex cerebral: relato de caso

    Directory of Open Access Journals (Sweden)

    Paulo Roberto de Brito-Marques

    2002-06-01

    Full Text Available The case of a patient who suffered from progressive amnesia, depressive humor, language and visuospatial disturbances, and hallucination episodies with interference at the daily living activities is reported. She had moderate neuropsichological diffuse deficits at the first examination, especially at the executive and visuo-constructive functions. Her cerebrospinal fluid test presented high total protein. Magnetic resonance image showed slight white matter increase in periventricular, semi-oval center bilateral and left external capsule regions, besides light frontal and parietal lobe atrophy, bilaterally. Brain single photon emission computerized tomography revealed both a bilateral moderate frontal and a severe parietal lobe hypoperfusion, especially on the left side. Macroscopic examination showed cortical atrophy, severe on the frontal, moderate on the parietal and mild on the posterior third temporal lobes, bilaterally. There was a slight atrophy on the neostriatum in the basal ganglia. The histopathological findings of the autopsy showed severe neuronal loss with intensive gemioscytic gliosis and variable degrees of status spongiosus in cortical layer. Hematoxylin-eosin and Bielschowsky staining did not show neuronal swelling (balooned cell, argyrophilic inclusion (Pick's bodies, neurofibrillary tangles nor senile plaques. Immunohistochemical staining for anti-ubiquitin, anti-tau, anti-beta-amyloide, and anti-prion protein were tested negative.É descrito o caso de uma paciente que apresentava amnésia, humor deprimido, distúrbio de linguagem e visoespacial, e alucinação visual com evolução progressiva, interferindo nas atividades de vida diária. Na primeira avaliação neuropsicológica havia déficit difuso de intensidade moderada, especialmente nas funções executivas e viso-construtivas. O exame de líquido céfalo-raqueano mostrou a taxa de proteína elevada. Ressonância magnética evidenciou leve hiperintensidade de sinal na

  12. 脊髓性肌萎缩伴呼吸窘迫1型1例回顾性研究%Retrospective Study of One Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

    Institute of Scientific and Technical Information of China (English)

    麦嘉卉; 马伟科; 韩春锡; 何颜霞; 廖建湘

    2015-01-01

    Aim To report the first case of spinal muscular atrophy with respiratory distress type 1 (SMARD1) in China and discuss the diagnosis strategy of SMARD1.Methods The history, physical examination, clinical exams and genetic analysis results of the patient with SMARD1 were retrospectively analyzed, and the related literatures were reviewed.Results At 1 month old, the patient had scaffold orthodontic treatment because of the hip dysplasia, then developed into muscle weakness, more evident in the distal parts and predominantly in the legs. At the age of 2 years old, she developed contractures of the knees and elbows. Respiratory failure happened at the age of 4 years and 10 months. Her blood tests and genetic analysis of SMN gene were not remarkable except for the slightly increased of creatine kinase and the aminotransferases. The EMG revealed neurogenic damages. Her chest X-ray reported eventration of the right diaphragm. IGHMBP2 gene sequencing identiifed homozygous mutation of c.1813 C>T. The diagnosis of SMARD1 was conformed. Conclusion SMARD1 is one of the variation types of spinal muscular atrophy, which manifested as irreversible diaphragmatic paralysis, respiratory failure between 6 weeks and 6 months of age, as well as progressive symmetrical muscular weakness and muscle atrophy. Nowadays, genetic analysis is the principal method for diagnosis.%目的:报道国内首例脊髓性肌萎缩伴呼吸窘迫1型(SMARD1)病例,探讨SMARD1的诊断和鉴别诊断。方法回顾性分析1例女性4岁10个月患儿的病史、体格检查、辅助检查以及基因检测结果,并结合文献进行讨论。结果患儿出生1个月,因“双侧髋关节发育不良”行支架矫正治疗1个月后发现四肢肌无力,下肢重于上肢、远端重于近端。2岁时出现膝关节和肘关节变形,4岁10个月时出现呼吸窘迫、呼吸衰竭。患儿血常规、生化、SMN基因检测均正常。肌酸激酶轻度升高。肌电图检查提示

  13. Combined Bimaxillary Distraction Osteogenesis Associated with Orthognathic Surgery for Hemifacial Microsomia in Adults.

    Science.gov (United States)

    Liu, Hanghang; Zhang, Xiaohui; Liu, Li; Chen, Qianming; Shao, Jun; Luo, En

    2017-06-01

    Hemifacial microsomia (HFM) is one of the most common congenital craniofacial asymmetries. Distraction osteogenesis (DO) is always recommended as an effective option for the treatment of HFM, but some studies showed that the asymmetry remained after DO. In comparison with DO, stable clinical outcomes could be achieved by orthognathic surgery approach as well. However, soft tissue expansion cannot be performed. In this study, we aim to assess the radiographic and clinical results of bimaxillary DO associated with staged orthognathic surgery in the treatment of craniofacial asymmetry for adult HFM patients. Twelve HFM patients who had been treated with bimaxillary DO and secondary orthognathic surgery between 2006 and 2013 were included in this study. Bimaxillary DO and staged orthognathic surgery were performed according to the particular condition. Clinical and cephalometric photographs were carried out pre- and postoperatively to evaluate the outcomes. No significant complications occurred postoperatively. Excellent cosmetic outcomes such as notable improvement in facial pattern and occlusion were achieved. Cephalometrically, the height ratios of the affected/unaffected ramus were improved by 23.81% on average, and the photographic analysis demonstrated a rotation of the chin point toward the mid-line. Moreover, the occlusal cant was corrected from the slant to level by 8.95° on average. The application of bimaxillary DO associated with staged orthognathic surgery in correcting the asymmetry of adult patients with HFM could have satisfactory aesthetic results, and it should be considered an alternative option for these patients. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.

  14. Analysis of facial motor evoked potentials for assessing a central mechanism in hemifacial spasm.

    Science.gov (United States)

    Wilkinson, Marshall F; Chowdhury, Tumul; Mutch, W Alan; Kaufmann, Anthony M

    2017-02-01

    OBJECTIVE Hemifacial spasm (HFS) is a cranial nerve hyperactivity disorder characterized by unique neurophysiological features, although the underlying pathophysiology remains disputed. In this study, the authors compared the effects of desflurane on facial motor evoked potentials (MEPs) from the spasm and nonspasm sides of patients who were undergoing microvascular decompression (MVD) surgery to test the hypothesis that HFS is associated with a central elevation of facial motor neuron excitability. METHODS Facial MEPs were elicited in 31 patients who were undergoing MVD for HFS and were administered total intravenous anesthesia (TIVA) with or without additional desflurane, an inhaled anesthetic known to centrally suppress MEPs. All measurements were completed before dural opening while a consistent mean arterial blood pressure was maintained and electroencephalography was performed. The activation threshold voltage and mean amplitudes of the MEPs from both sides of the face were compared. RESULTS There was a significantly lower mean activation threshold of facial MEPs on the spasm side than on the nonspasm side (mean ± SD 162.9 ± 10.1 vs 198.3 ± 10.1 V, respectively; p = 0.01). In addition, MEPs were also elicited more readily when single-pulse transcranial electrical stimulation was used on the spasm side (74% vs 31%, respectively; p = 0.03). Although desflurane (1 minimum alveolar concentration) suppressed facial MEPs on both sides, the suppressive effects of desflurane were less on the spasm side than on the nonspasm side (59% vs 79%, respectively; p = 0.03), and M waves recorded from the mentalis muscle remained unchanged, which indicates that desflurane did not affect the peripheral facial nerve or neuromuscular junction. CONCLUSIONS Centrally acting inhaled anesthetic agents can suppress facial MEPs and therefore might interfere with intraoperative monitoring. The elevated motor neuron excitability and differential effects of desflurane between the spasm

  15. Mitochondrial signaling contributes to disuse muscle atrophy

    Science.gov (United States)

    Wiggs, Michael P.; Duarte, Jose A.; Zergeroglu, A. Murat; Demirel, Haydar A.

    2012-01-01

    It is well established that long durations of bed rest, limb immobilization, or reduced activity in respiratory muscles during mechanical ventilation results in skeletal muscle atrophy in humans and other animals. The idea that mitochondrial damage/dysfunction contributes to disuse muscle atrophy originated over 40 years ago. These early studies were largely descriptive and did not provide unequivocal evidence that mitochondria play a primary role in disuse muscle atrophy. However, recent experiments have provided direct evidence connecting mitochondrial dysfunction to muscle atrophy. Numerous studies have described changes in mitochondria shape, number, and function in skeletal muscles exposed to prolonged periods of inactivity. Furthermore, recent evidence indicates that increased mitochondrial ROS production plays a key signaling role in both immobilization-induced limb muscle atrophy and diaphragmatic atrophy occurring during prolonged mechanical ventilation. Moreover, new evidence reveals that, during denervation-induced muscle atrophy, increased mitochondrial fragmentation due to fission is a required signaling event that activates the AMPK-FoxO3 signaling axis, which induces the expression of atrophy genes, protein breakdown, and ultimately muscle atrophy. Collectively, these findings highlight the importance of future research to better understand the mitochondrial signaling mechanisms that contribute to disuse muscle atrophy and to develop novel therapeutic interventions for prevention of inactivity-induced skeletal muscle atrophy. PMID:22395111

  16. Blefarospasmo essencial e espasmo hemifacial: características dos pacientes, tratamento com toxina botulínica A e revisão da literatura

    Directory of Open Access Journals (Sweden)

    Schellini Silvana Artioli

    2006-01-01

    Full Text Available OBJETIVO: Conhecer as características dos portadores de blefarospasmo essencial e espasmo hemifacial, assim como a resposta ao tratamento utilizando toxina botulínica A. MÉTODOS: Trinta e quatro portadores de blefarospasmo essencial ou espasmo hemifacial foram avaliados quanto a idade, sexo, queixas oculares, tempo de existência da doença, tipo de comprometimento, complicações e resultado do tratamento com toxina botulínica A. RESULTADOS: A mediana da idade dos pacientes foi de 63 anos e a média, de 61 anos, sem diferença quanto ao sexo; 66,66% possuíam espasmo hemifacial e 33,33%, blefarospasmo essencial. Vários pacientes apresentavam também olho seco. A melhora com a utilização da toxina botulínica A ocorreu em 91,30% dos pacientes tratados. As complicações com o tratamento foram ptose palpebral (8,33% e desvio da rima bucal (8,33%. CONCLUSÃO: O blefarospasmo essencial e o espasmo hemifacial geralmente acometem idosos, de ambos os sexos. O tratamento com a toxina botulínica A é eficiente, com índice muito baixo de complicações.

  17. Clinical research progress of hemifacial spasm%面肌痉挛的临床研究进展

    Institute of Scientific and Technical Information of China (English)

    王芳; 马停停; 韩慧敏

    2016-01-01

    面肌痉挛又称面肌抽搐,是因一侧面神经异常兴奋弓起同侧面部肌肉出现阵发非自主无痛性,反复发作的强直或抽搐,该病发病机制尚无定论,其病程进展缓慢,呈渐进性发展。随着微血管减压术的推广及广泛应用,人们对面肌痉挛的发病机制有了更深的认识。本文针对面肌痉挛的临床诊断及内外科治疗的进展进行综述,有助于临床对面肌痉挛的规范诊疗。%Hemifacial Spasm,also called facial tic is one side facial muscular paroxysm non-spontaneous and non-pain recurrent rigidity or tic caused by abnormal excitement of the same side facial nerves.The pathogenesisof the disease is still unclear with slow symptoms progression and progressive development.With the widespread application of microvas-cular decompression,the pathogenesis of hemifacial spasm is more profoundly understood.In this article,a review is made about clinical diagnose and progress of medical and surgical treatment to improve the standardized clinical treatment of facial spasm.

  18. THE PROPERTIES AND LONGITUDINAL EXPERIENCE OF CHINESE TYPE A BOTULINUM TOXIN FOR THE TREATMENT OF FOCAL DYSTONIA AND HEMIFACIAL SPASM

    Institute of Scientific and Technical Information of China (English)

    万新华; 汤晓芙; 王荫椿

    2003-01-01

    Objective. To introduce the properties of Chinese type A botulinum toxin (CBTXA, made by Lanzhou Institute of Biological Products), and its long-term effect for focal dystonia and hemifacial spasm. Method. The purity and recovery of crude and crystalline toxin were tested. Long-term data from 305 patients with hemifacial spasm (HFS), blepharospasm (BS) and cervical dystonia (CD) were evaluated and subgroups of patients received CBTXA injections between 1994 and 2000 in at least six separate treatment sessions, with follow up for 2-8 years. The therapeutic results of the last session CBTXA injections were analyzed in comparison with the first session. Result. CBTXA purity was high[(2.55~2.60)×107D50/mgPr, A260/A280 ≤0.55, high molecular substance accounted for 99.2% of total proteins]. Long term treatment with CBTXA in patients with focal dystonia and HFS was not associated with any decline in benefit, and efficacy may improve slightly with repeat treatments. CBTXA is an excellent long-term treatment of HFS, BS and CD. Conchusion. We conclude that Chinese type A botulinum toxin is of botulinum toxin therapy quality standard according to results obtained from the basic study and long-term clinical applications. The reinjection of CBTXA significantly improves the quality of life of most patients and is a safe, effective and comparatively economical treatment for patients with focal dystonia and HFS.

  19. Cluster Headache Associated with Secondary Unilateral Blepharospasm: A Case Report and Review of the Literature.

    Science.gov (United States)

    Bagheri, Abbas; Mohammadi, Minoo; Harooni, Ghader; Khosravifard, Keyvan; Feizi, Mohadeseh; Yazdani, Shahin

    2017-01-01

    Cluster headache is one of the most serious types of headache that is accompanied by autonomic parasympathetic symptoms. Its association with hemifacial spasm in the same side had been rarely reported. The aim of this report is describing a case with this association and treatment strategies. Here we report a 37-year-old female with cluster headache associated with secondary unilateral blepharospasm that was successfully treated with combination therapy including botulinum toxin injection. Hemifacial spasm associated with cluster headache needs special attention and can be treated successfully.

  20. A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb

    Directory of Open Access Journals (Sweden)

    Das Amitava

    2008-01-01

    Full Text Available A case of Goldenhar-Gorlin syndrome in a seven-month-old male infant presented with the features of epibulbar dermoid, microtia and hemifacial microsomia associated with thumb defect. The dermoid was bilateral and microtia was unilateral. Preauricular appendages and pits were double and single respectively on both the sides. Hemifacial microsomia was unilateral and was associated with cleft lip, macrostomia, dental misalignment, large tongue and high arched palate. The association of hypoplastic thumb with Goldenhar-Gorlin syndrome has not been documented in the past.

  1. Gastric atrophy, diagnosing and staging

    Institute of Scientific and Technical Information of China (English)

    Hala MT El-Zimaity

    2006-01-01

    H pylori is now accepted as the cause of gastritis and gastritis-associated diseases, such as duodenal ulcer,gastric ulcer, gastric carcinoma, and gastric MALT lymphoma. The natural history of H pylori gastritis includes inflammation progressing from the antrum into the adjacent corpus resulting in an atrophic front of advancing injury leading to a reduction in acid secretion and eventual loss of parietal cells and development of atrophy. Sub-typing intestinal metaplasia has no clinical value to the patient, the pathologist, or the endoscopist.The pattern, extent, and severity of atrophy, with or without intestinal metaplasia, is a far more important predictor than is intestinal metaplasia subtype. The challenge remains to identify a reliable marker that relates to pre-malignant potential.

  2. Neuronal involvement in muscular atrophy

    Directory of Open Access Journals (Sweden)

    Bruno Alejandro Cisterna

    2014-12-01

    Full Text Available The innervation of skeletal myofibers exerts a crucial influence on the maintenance of muscle tone and normal operation. Consequently, denervated myofibers manifest atrophy, which is preceded by an increase in sarcolemma permeability. Recently, de novo expression of hemichannels formed by connexins and other none selective channels, including P2X7 receptors, TRPV2 channels were demonstrated in denervated fast skeletal muscles. The denervation-induced atrophy was drastically prevented in denervated muscles deficient in connexins 43 and 45. Nonetheless, the transduction mechanism by which the nerve represses the expression of the above mentioned none selective channels remains unknown. The paracrine action of extracellular signaling molecules including ATP, neurotrophic factors (i.e., BDNF, agrin/Lrp4/MuSK and acetylcholine are among the possible perpetrators of repression for connexin expression. This review discusses the possible role of relevant factors in maintaining the normal functioning of fast skeletal muscles and suppression of connexin hemichannel expression.

  3. Calcified neurocysticercosis associates with hippocampal atrophy: a population-based study.

    Science.gov (United States)

    Del Brutto, Oscar H; Salgado, Perla; Lama, Julio; Del Brutto, Victor J; Campos, Xavier; Zambrano, Mauricio; García, Héctor H

    2015-01-01

    Calcified neurocysticercosis has been associated with hippocampal atrophy in patients with refractory epilepsy, but the relevance of this association in the population at large is unknown. We assessed calcified cysticerci and its association with hippocampal atrophy in elderly persons living in Atahualpa, an Ecuadorian village endemic for neurocysticercosis. All Atahualpa residents ≥ 60 years of age were invited to undergo computed tomography/magnetic resonance imaging for neurocysticercosis detection. Twenty-eight (11%) out of 248 enrolled persons had calcified cysticerci (case-patients) and were matched 1:1 by age, sex, and years of education to individuals without neurocysticercosis on computed tomography/magnetic resonance imaging (controls). Four case-patients and none of the controls had epilepsy (P = 0.134). Cognitive performance was similar across both groups. The Scheltens' medial temporal atrophy scale was used for hippocampal rating in case-patients and matched controls without neurocysticercosis. Mean score in the Scheltens' scale was higher in case-patients than in controls (P < 0.001). Atrophic hippocampi were noticed in 19 case-patients and five controls (P = 0.003). Atrophy was bilateral in 11 case-patients and unilateral in eight. All case-patients with unilateral hippocampal atrophy had at least one ipsilateral calcification. This study shows an association between calcified cysticerci and hippocampal atrophy and raises the possibility of an inflammation-mediated hippocampal damage as the responsible mechanism for these findings.

  4. Calcified Neurocysticercosis Associates with Hippocampal Atrophy: A Population-Based Study

    Science.gov (United States)

    Del Brutto, Oscar H.; Salgado, Perla; Lama, Julio; Del Brutto, Victor J.; Campos, Xavier; Zambrano, Mauricio; García, Héctor H.

    2015-01-01

    Calcified neurocysticercosis has been associated with hippocampal atrophy in patients with refractory epilepsy, but the relevance of this association in the population at large is unknown. We assessed calcified cysticerci and its association with hippocampal atrophy in elderly persons living in Atahualpa, an Ecuadorian village endemic for neurocysticercosis. All Atahualpa residents ≥ 60 years of age were invited to undergo computed tomography/magnetic resonance imaging for neurocysticercosis detection. Twenty-eight (11%) out of 248 enrolled persons had calcified cysticerci (case-patients) and were matched 1:1 by age, sex, and years of education to individuals without neurocysticercosis on computed tomography/magnetic resonance imaging (controls). Four case-patients and none of the controls had epilepsy (P = 0.134). Cognitive performance was similar across both groups. The Scheltens' medial temporal atrophy scale was used for hippocampal rating in case-patients and matched controls without neurocysticercosis. Mean score in the Scheltens' scale was higher in case-patients than in controls (P < 0.001). Atrophic hippocampi were noticed in 19 case-patients and five controls (P = 0.003). Atrophy was bilateral in 11 case-patients and unilateral in eight. All case-patients with unilateral hippocampal atrophy had at least one ipsilateral calcification. This study shows an association between calcified cysticerci and hippocampal atrophy and raises the possibility of an inflammation-mediated hippocampal damage as the responsible mechanism for these findings. PMID:25349375

  5. Olmesartan-Induced Enteropathy: An Unusual Cause of Villous Atrophy

    Directory of Open Access Journals (Sweden)

    Marta Eusébio

    2016-03-01

    Olmesartan is an angiotensin receptor blocker commonly prescribed for the management of hypertension. Spruelike enteropathy associated with this drug is a recently described entity with few cases reported. It presents with chronic diarrhea and intestinal villous atrophy and should be included in its differential diagnosis. This case intends to alert clinicians for the possibility of this event in a patient on treatment with this drug.

  6. Visual Dysfunction in Posterior Cortical Atrophy

    Directory of Open Access Journals (Sweden)

    Mari N. Maia da Silva

    2017-08-01

    Full Text Available Posterior cortical atrophy (PCA is a syndromic diagnosis. It is characterized by progressive impairment of higher (cortical visual function with imaging evidence of degeneration affecting the occipital, parietal, and posterior temporal lobes bilaterally. Most cases will prove to have Alzheimer pathology. The aim of this review is to summarize the development of the concept of this disorder since it was first introduced. A critical discussion of the evolving diagnostic criteria is presented and the differential diagnosis with regard to the underlying pathology is reviewed. Emphasis is given to the visual dysfunction that defines the disorder, and the classical deficits, such as simultanagnosia and visual agnosia, as well as the more recently recognized visual field defects, are reviewed, along with the evidence on their neural correlates. The latest developments on the imaging of PCA are summarized, with special attention to its role on the differential diagnosis with related conditions.

  7. Visual Dysfunction in Posterior Cortical Atrophy

    Science.gov (United States)

    da Silva, Mari N. Maia; Millington, Rebecca S.; Bridge, Holly; James-Galton, Merle; Plant, Gordon T.

    2017-01-01

    Posterior cortical atrophy (PCA) is a syndromic diagnosis. It is characterized by progressive impairment of higher (cortical) visual function with imaging evidence of degeneration affecting the occipital, parietal, and posterior temporal lobes bilaterally. Most cases will prove to have Alzheimer pathology. The aim of this review is to summarize the development of the concept of this disorder since it was first introduced. A critical discussion of the evolving diagnostic criteria is presented and the differential diagnosis with regard to the underlying pathology is reviewed. Emphasis is given to the visual dysfunction that defines the disorder, and the classical deficits, such as simultanagnosia and visual agnosia, as well as the more recently recognized visual field defects, are reviewed, along with the evidence on their neural correlates. The latest developments on the imaging of PCA are summarized, with special attention to its role on the differential diagnosis with related conditions. PMID:28861031

  8. Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: a case report and review of the literature

    Science.gov (United States)

    Sahai, S; Rajan, S; Singh, N; Arora, H

    2013-01-01

    Congenital infiltrating lipomatosis of the face (CIL-F) is a rare lipomatous lesion with diffuse fatty infiltration of tissues and hyperplasia of underlying bone. We report clinical and CT findings in an unusual case of CIL-F presenting with progressive hemifacial asymmetry, manifesting as severely restricted mouth opening owing to exophytic temporomandibular joint ankylosis. The role of imaging in diagnosis is presented with a review of the literature. Differential diagnosis of CIL-F and its exclusion as a cause of hemifacial hyperplasia are also discussed. PMID:22241871

  9. Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: a case report and review of the literature.

    Science.gov (United States)

    Sahai, S; Rajan, S; Singh, N; Arora, H

    2013-01-01

    Congenital infiltrating lipomatosis of the face (CIL-F) is a rare lipomatous lesion with diffuse fatty infiltration of tissues and hyperplasia of underlying bone. We report clinical and CT findings in an unusual case of CIL-F presenting with progressive hemifacial asymmetry, manifesting as severely restricted mouth opening owing to exophytic temporomandibular joint ankylosis. The role of imaging in diagnosis is presented with a review of the literature. Differential diagnosis of CIL-F and its exclusion as a cause of hemifacial hyperplasia are also discussed.

  10. Mitochondrial signaling contributes to disuse muscle atrophy

    OpenAIRE

    Powers, Scott K.; Wiggs, Michael P.; Duarte, Jose A.; Zergeroglu, A. Murat; Demirel, Haydar A.

    2012-01-01

    It is well established that long durations of bed rest, limb immobilization, or reduced activity in respiratory muscles during mechanical ventilation results in skeletal muscle atrophy in humans and other animals. The idea that mitochondrial damage/dysfunction contributes to disuse muscle atrophy originated over 40 years ago. These early studies were largely descriptive and did not provide unequivocal evidence that mitochondria play a primary role in disuse muscle atrophy. However, recent exp...

  11. Immunomodulatory effects of bone marrow-derived mesenchymal stem cells in a swine hemi-facial allotransplantation model.

    Directory of Open Access Journals (Sweden)

    Yur-Ren Kuo

    Full Text Available BACKGROUND: In this study, we investigated whether the infusion of bone marrow-derived mesenchymal stem cells (MSCs, combined with transient immunosuppressant treatment, could suppress allograft rejection and modulate T-cell regulation in a swine orthotopic hemi-facial composite tissue allotransplantation (CTA model. METHODOLOGY/PRINCIPAL FINDINGS: Outbred miniature swine underwent hemi-facial allotransplantation (day 0. Group-I (n = 5 consisted of untreated control animals. Group-II (n = 3 animals received MSCs alone (given on days -1, +1, +3, +7, +14, and +21. Group-III (n = 3 animals received CsA (days 0 to +28. Group-IV (n = 5 animals received CsA (days 0 to +28 and MSCs (days -1, +1, +3, +7, +14, and +21. The transplanted face tissue was observed daily for signs of rejection. Biopsies of donor tissues and recipient blood sample were obtained at specified predetermined times (per 2 weeks post-transplant or at the time of clinically evident rejection. Our results indicated that the MSC-CsA group had significantly prolonged allograft survival compared to the other groups (P<0.001. Histological examination of the MSC-CsA group displayed the lowest degree of rejection in alloskin and lymphoid gland tissues. TNF-α expression in circulating blood revealed significant suppression in the MSC and MSC-CsA treatment groups, as compared to that in controls. IHC staining showed CD45 and IL-6 expression were significantly decreased in MSC-CsA treatment groups compared to controls. The number of CD4+/CD25+ regulatory T-cells and IL-10 expressions in the circulating blood significantly increased in the MSC-CsA group compared to the other groups. IHC staining of alloskin tissue biopsies revealed a significant increase in the numbers of foxp3(+T-cells and TGF-β1 positive cells in the MSC-CsA group compared to the other groups. CONCLUSIONS: These results demonstrate that MSCs significantly prolong hemifacial CTA survival. Our data indicate the MSCs did not

  12. Cube propagation for focal brain atrophy estimation

    DEFF Research Database (Denmark)

    Pai, Akshay Sadananda Uppinakudru; Sørensen, Lauge; Darkner, Sune

    2013-01-01

    or localization of atrophy and subsequent summing to an ROI measure of atrophy. ST and SF only offer whole ROI atrophy measures. JI and SF suffer from a lack of precision originating from respectively approximating a space and a time integral by a finite sum. VM suffers from a high computational burden and the ST......Precise and robust whole brain, ventricle, and hippocampal atrophy measurements are important as they serve as biomarkers for Alzheimer’s disease. They are used as secondary outcomes in drug trials, and they correlate with the cognitive scores. When two successive scans are non-linearly aligned...

  13. Functional end-plate recovery in long-term botulinum toxin therapy of hemifacial spasm: a nerve conduction study.

    Science.gov (United States)

    Butera, C; Guerriero, R; Amadio, S; Ungaro, D; Tesfaghebriel, H; Bianchi, F; Comi, G; Del Carro, U

    2013-02-01

    Botulinum toxin type-A is currently thought to be effective and safe for hemifacial spasm (HFS). The pre-synaptic block of acetylcholine release at the neuromuscular junction induces depression of orbicularis oculi muscle compound motor action potential (CMAP). The aim of our study was to evaluate at what extent end-plate functional recovery is possible even in botulinum toxin treatments lasting up to 15 years. We examined 81 outpatients with primary HFS (mean treatment duration = 7.2 ± 4.2 years) who underwent neurophysiologic study, once clinical effect of the previous treatment had vanished. The mean CMAP amplitude, mean rectified amplitude of response 1 (R1) of the blink reflex and area of response 2 (R2) of treated orbicularis oculi muscle were measured in comparison to the controlateral side. Mean amplitude of the above mentioned parameters was slightly lower (about 20%; p muscle complex.

  14. Association of the COQ2 V393A variant with risk of multiple system atrophy in East Asians: a case-control study and meta-analysis of the literature.

    Science.gov (United States)

    Zhao, QuanZhen; Yang, Xinglong; Tian, SiJia; An, Ran; Zheng, JinHua; Xu, Yanming

    2016-03-01

    Recent studies in Japan have associated multiple system atrophy (MSA), a neurodegenerative disease of uncertain etiology, with polymorphism in the COQ2 gene. This led us to explore whether the same polymorphism is associated with MSA in Han Chinese and more broadly in East Asians. We conducted a case-control study with 82 Han Chinese with probable MSA and 484 gender- and age-matched healthy subjects, genotyping them using the ligase detection reaction. The results were meta-analyzed together with data from four previous studies to gain a broader picture of possible disease associations in East Asian populations. The COQ2 variants M78V and R337X were not detected in our Han Chinese patients or controls; only the heterozygous V393A variant (CT genotype) was detected. The frequency of this genotype was significantly higher in patients (7.3%) than in controls (1.86%; OR 4.17, 95% CI 1.44-12.04, p = 0.004). Subgroup analysis among patients showed a significant association of V393A with MSA involving cerebellar signs (MSA-C; OR 4.59, 95% CI 1.36-15.48, p = 0.007), but not with MSA involving parkinsonism (MSA-P). Meta-analysis of our results in Han Chinese with data from case-control studies in Japan, Korea, mainland China and Taiwan showed a significant association of V393A with MSA (OR 2.05, 95% CI 1.29-3.25, p = 0.002), which subgroup analysis showed to be significant for MSA-C (OR 2.75, 95% CI 1.98-3.84, p < 0.001) but not for MSA-P (OR 1.25, 95% CI 0.64-2.46, p = 0.51). These findings provide evidence that the previously reported association of COQ2 V393A polymorphism with increased risk of MSA in Japanese also applies to Han Chinese, as well as more broadly to other East Asian populations. This association may be particularly strong for MSA-C.

  15. Evolution of Cerebral Atrophy in a Patient with Super Refractory Status Epilepticus Treated with Barbiturate Coma

    Science.gov (United States)

    George, Pravin; Nattanmai, Premkumar; Ahrens, Christine; Hantus, Stephen; Sarwal, Aarti

    2017-01-01

    Introduction. Status epilepticus is associated with neuronal breakdown. Radiological sequelae of status epilepticus include diffusion weighted abnormalities and T2/FLAIR cortical hyperintensities corresponding to the epileptogenic cortex. However, progressive generalized cerebral atrophy from status epilepticus is underrecognized and may be related to neuronal death. We present here a case of diffuse cerebral atrophy that developed during the course of super refractory status epilepticus management despite prolonged barbiturate coma. Methods. Case report and review of the literature. Case. A 19-year-old male with a prior history of epilepsy presented with focal clonic seizures. His seizures were refractory to multiple anticonvulsants and eventually required pentobarbital coma for 62 days and midazolam coma for 33 days. Serial brain magnetic resonance imaging (MRI) showed development of cerebral atrophy at 31 days after admission to our facility and progression of the atrophy at 136 days after admission. Conclusion. This case highlights the development and progression of generalized cerebral atrophy in super refractory status epilepticus. The cerebral atrophy was noticeable at 31 days after admission at our facility which emphasizes the urgency of definitive treatment in patients who present with super refractory status epilepticus. Further research into direct effects of therapeutic coma is warranted. PMID:28182114

  16. Evolution of Cerebral Atrophy in a Patient with Super Refractory Status Epilepticus Treated with Barbiturate Coma

    Directory of Open Access Journals (Sweden)

    Christopher R. Newey

    2017-01-01

    Full Text Available Introduction. Status epilepticus is associated with neuronal breakdown. Radiological sequelae of status epilepticus include diffusion weighted abnormalities and T2/FLAIR cortical hyperintensities corresponding to the epileptogenic cortex. However, progressive generalized cerebral atrophy from status epilepticus is underrecognized and may be related to neuronal death. We present here a case of diffuse cerebral atrophy that developed during the course of super refractory status epilepticus management despite prolonged barbiturate coma. Methods. Case report and review of the literature. Case. A 19-year-old male with a prior history of epilepsy presented with focal clonic seizures. His seizures were refractory to multiple anticonvulsants and eventually required pentobarbital coma for 62 days and midazolam coma for 33 days. Serial brain magnetic resonance imaging (MRI showed development of cerebral atrophy at 31 days after admission to our facility and progression of the atrophy at 136 days after admission. Conclusion. This case highlights the development and progression of generalized cerebral atrophy in super refractory status epilepticus. The cerebral atrophy was noticeable at 31 days after admission at our facility which emphasizes the urgency of definitive treatment in patients who present with super refractory status epilepticus. Further research into direct effects of therapeutic coma is warranted.

  17. Genetics Home Reference: spinal and bulbar muscular atrophy

    Science.gov (United States)

    ... Kennedy spinal and bulbar muscular atrophy Kennedy's disease SBMA X-linked spinal and bulbar muscular atrophy Related ... Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006 ...

  18. [Association of post-radiation focal muscular atrophy and hypertrophy].

    Science.gov (United States)

    Serratrice, G; Sangla, I; Pouget, J; Azulay, J P

    1993-01-01

    We report a 48 year old woman who had radiotherapy for uterine carcinoma and who developed amyotrophy and muscle hypertrophy in one lower limb. Very few cases of post-radiation monomelic amyotrophy have been reported. On the other hand denervation hypertrophy was presumed to be well known. The seat of the lesions was presumed to be radicular and spinal. The mechanism of atrophy and hypertrophy is discussed.

  19. Phenytoin-induced cerebellar atrophy in an epileptic boy

    Directory of Open Access Journals (Sweden)

    Nithin Kumar

    2013-01-01

    Full Text Available Epilepsy is an important health problem due to its high prevalence and potential for causing long-term morbidity. It is commonly treated in children with phenytoin sodium. It has wide pharmacokinetic variability and a narrow therapeutic range that leads to toxicity. Here, we report a case of phenytoin-induced cerebellar atrophy in a 16-year-old epileptic boy who presented to the hospital with a viral infection.

  20. Neurocysticercosis (NCC) with Hydrocephalus, Optic Atrophy and Vision Loss: A Rare Presentation.

    Science.gov (United States)

    Chaudhary, Nagendra; Mahato, Shyam Kumar; Khan, Salamat; Pathak, Santosh; Bhatia, B D

    2015-02-01

    Neurocysticercosis (NCC) is one of the most common parasitic infestations (Taenia solium) of central nervous system (CNS) in children. Seizures are the common presenting symptoms. Hydrocephalus and optic atrophy are rare complications which may require neurosurgical interventions. We report a case of NCC with hydrocephalus and bilateral optic atrophy associated with vision loss in a Nepalese patient who improved with anti-parasitic therapy followed by ventriculo-peritoneal (VP) shunting.

  1. Atrophy of muscles surrounding the shoulder in hemiplegia. Analysis with MRI

    Energy Technology Data Exchange (ETDEWEB)

    Fukuda, Fumio; Kobayashi, Tsunesaburo; Matsumoto, Shinichi [Fukushima Rosai Hospital, Iwaki (Japan)

    1996-01-01

    Decrease of range of motion and subluxation of shoulders are common secondary dysfunctions after the stroke. The purpose of this study is to evaluate the atrophy of muscles surrounding shoulders in hemiplegic patients and to delineate the correlations between those atrophies and shoulder functions. MRI studies were done on bilateral shoulders in 13 hemiplegic patients with shoulder pain. The cross sectional areas of muscles surrounding shoulder, i.e., subscapularis, supraspinatus, infraspinatus, teres minor and deltoid muscle were measured on those images obtained. The degree of atrophies were evaluated by dividing cross-sectional area of the muscle on affected shoulder by that of non-affected shoulder, that is muscle atrophy ratio [MAR], for each muscle in every case. Also, the range of movements [ROM], the degree of subluxation and muscle strength of shoulder flexion were evaluated. All muscle cross-sectional areas on the affected side were significantly smaller than those of muscles on the unaffected side (p<0.01). The means of MARs were 0.68, 0.69, 0.86, 0.72 and 0.69 for subscapularis, supraspinatus, infraspinatus, teres minor and deltoid muscle. The pattern of muscle atrophies, however, varies from case to case. Both correlations of ROM versus supraspinatus MAR and degree of shoulder subluxation versus deltoid MAR were statistically significant (p<0.05). These results indicate the contribution of muscle atrophy to the shoulder dysfunction in hemiplegic patients. (author).

  2. 面肌痉挛病因学机制的实验研究%Experimental Study on the Etiological Mechanism of Hemifacial Spasm

    Institute of Scientific and Technical Information of China (English)

    海舰; 李善泉; 丁美修; 王秉玉

    2000-01-01

    Objective To investigate the etiology and pathogenesis of hemifacial spasm by estab-lishing animal models. Methods 28 New Zealand white rabbits were randomly divided into modelgroup and control group. The animal models of hemifacial spasm were replicated by compression of themain trunk of the artificial demyelinated facial nerve with the temporal superficial artery. The electro-physiological technique was used to explore the abnormal muscle reponse (AMR) at the third and sixthweek of postoperation respectively. Results No AMR was elicited in each group at the third week ofpostoperation, while AMR was elicited in model group rather than the other groups at the sixth week af-ter operation. Conclusion Aterial vascular compression on the facial nerve accounts for hemifacial spasm;Proper animal models of hemifacial spasm provide good experimental basis for the study of its pathogenesis.%目的 建立面肌痉挛动物(HFS)模型,探讨其病因及发病机理。方法28只新西兰大白兔随机分为模型组和对照组,采用颞浅动脉压迫人为脱髓鞘变的外周面神经主干的方法复制HFS动物模型,术后3、6周分别通过电生理技术诱发异常肌反应(AMR)。结果术后3周各组动物均未诱发AMR,术后6周在模型组动物上诱发AMR,而对照组动物仍无AMR。 结论动脉压迫面神经是HFS的发病原因;建立合适的HFS动物模型为进一步研究其发病机理提供了实验基础。

  3. Análise clínica de pacientes com espasmo hemifacial primário e pós-paralítico: estudo retrospectivo

    OpenAIRE

    Andre Carvalho Felicio; Clecio de Oliveira Godeiro-Junior; Vanderci Borges; Sonia Maria de Azevedo Silva; Henrique Ballalai Ferraz

    2007-01-01

    OBJECTIVE: To compared the clinical features of 373 patients with primary and postparalytic hemifacial spasm (HFS). METHOD: Data analyzed were gender, ethnicity, age at symptom onset, disease duration, affected side, distribution of facial spasm at onset, hypertension, family history of HFS, previous history of facial palsy and latency between facial palsy and HFS. RESULTS:The prevalence of patients with Asian origin was similar in both groups such as female/male ratio, mean age at symptom on...

  4. Atrophying pityriasis versicolor: is this a new variant of pityriasis versicolor?

    Science.gov (United States)

    Yang, Yun-Seok; Shin, Min-Kyung; Haw, Choong-Rim

    2010-11-01

    An atypical clinical form of pityriasis versicolor has been infrequently reported, in which cutaneous atrophy is associated with individual pityriasis versicolor lesions. The pathogenesis of this atrophy remains unclear, but is believed to be a delayed-type hypersensitivity reaction to antigens derived from the Malassezia species. A 60-year-old man presented with multiple, slightly scaly, and depressed maculopatches or plaques on the trunk and extremities. Our microscopic examination of the skin scrapings on a KOH preparation revealed numerous short hyphae and spores. The patient was treated daily with 200 mg of itraconazole in combination with topical antifungals, achieving clinical improvement and mycological recovery, which was confirmed upon follow-up 1 month later. This is the first case report of atrophying pityriasis versicolor in Korea. It needs to be differentiated from other atrophying disorders of the skin.

  5. 巨刺法透穴治疗面肌痉挛疗效观察%Therapeutic Observation of Contralateral Needling plus Point-toward-point Method for Hemifacial Spasm

    Institute of Scientific and Technical Information of China (English)

    王洪国; 陈晓; 陈子弘

    2015-01-01

    目的:研究巨刺法透穴治疗面肌痉挛的临床应用效果,结合临床资料,寻找最佳治疗方法。方法选取94例面肌痉挛患者,随机分为治疗组和对照组,每组47例。对照组采用患侧针刺治疗,治疗组采用巨刺法透穴治疗,对比两组患者的病症反应,面肌痉挛组织恢复情况,计算治疗有效率。结果治疗组患者面肌痉挛病症有效缓和,治疗有效率为97.9%,明显优于对照组83.0%,差异具有统计学意义(P<0.05)。结论巨刺法透穴治疗面肌痉挛有显著疗效,有助于患者恢复面肌功能。%ObjectiveTo observe the efficacy of contralateral needling plus point-toward-point method in treatinghemifacial spasm, and to seek the optimal treatment protocol by combining clinical data.MethodNinety-four patients with hemifacial spasm were randomized into a treatment group and a control group, 47 cases in each group. The control group was by acupuncture at the affected side, while the treatment group was by contralateral needling plus point-toward-point method. The therapeutic efficacy was analyzed by comparing the changes of symptoms and the recovery of the spastic facial tissues.ResultThe symptoms in the treatment group were effectively mitigated, and the effective rate was 97.9%, significantly higher than 83.0% in the control group (P<0.05).ConclusionContralateral needling plus point-toward-point method is significantly effective in treating hemifacial spasm, and it benefits the recovery of the facial muscle function.

  6. Neuro-Behcet's disease showing severe atrophy of the cerebrum.

    Science.gov (United States)

    Miyakawa, T; Murayama, E; Deshimaru, M; Shikai, I; Kozuma, S

    1976-03-15

    A 38-year-old female died 6 years after the onset of what was, clinically and histopathologically, consistent with neuro-Behcet's disease. Pathologically the cerebrum showed severe atrophy. The main changes were observed in the grey and white matter, the diencephalon and the basal ganglia by light microscopy. All these changes originated in softenings around blood vessels, especially small vessels or capillaries. These foci fused together to form large regions of softening. Glial or mesenchymal reactions were minimal. In the white matter there was slight perivascular-infiltration, mainly consisting of lymphocytes. In view of these findings, it is suggested that these changes were caused by an allergic vasculitis. The present case of Neuro-Behcet's disease is the first one showing general atrophy of the cerebrum. It is very important in relation to demyelinating encephalitis.

  7. Regional gray matter atrophy and neuropsychologcal problems in relapsing-remitting multiple sclerosis

    Institute of Scientific and Technical Information of China (English)

    Aiyu Lin; Fuyong Chen; Fang Liu; Zhiwen Li; Ying Liu; Shifang Lin; Xiaoyi Wang; Jiting Zhu

    2013-01-01

    In multiple sclerosis, gray matter atrophy is extensive, and cognitive deficits and mood disorders are frequently encountered. It has been conjectured that focal atrophy is associated with emotional de-cline. However, conventional MRI has revealed that the pathological characteristics cannot ful y account for the mood disorders. Moreover, there is no correlation between cognitive disorders and MRI results in clinical y isolated syndromes or in cases of definite multiple sclerosis. In this case-control study, voxel-based morphometric analysis was performed on 11 subjects with relapsing-remitting multiple sclerosis, and the results show that these patients exhibit gray matter atrophy. Moreover, the gray matter atrophy in the superior and middle gyri of the right frontal lobe in patients with multiple sclerosis was correlated with scores from the Hamilton Anxiety Rating Scale. The scores obtained with the Repeatable Battery for the Assessment of Neuropsychological Status were associated with gray matter atrophy in the middle gyrus of the left frontal lobe, the superior and middle gyrus of the right frontal lobe, the middle gyrus of the left cingulate, the superior and middle gyri of the left frontal lobe, and the triangular area of the left frontal lobe. However, there was no statistical significance. These findings suggest that the cingulate and frontal cortices of the nant hemisphere are the most severely atrophic regions of the brain, and this atrophy is correlated with cognitive decline and emotional abnormalities.

  8. Possible role of polyamines in gyrate atrophy.

    Directory of Open Access Journals (Sweden)

    Sulochana Konerirajapuram

    2000-01-01

    Full Text Available PURPOSE: Gyrate atrophy (GA is marked by hyperornithinemia and lowered ornithine amino transferase (OAT. However there are patients of GA without hyperornithinemia and those with hyperornithinemia without GA. Some cases of GA have been reported to have low lysine. The purpose of the study was to determine if polyamines, the metabolites of ornithine, and lysine have any diagnostic role in GA. METHODS: Ornithine in plasma was estimated by two-dimensional paper chromatography, with elution of the coloured spot, and the absorbance measured using a spectrophotometer at 560 nm. OAT assay in lymphocytes was done spectrophotometrically using ornithine as substrate. Blood and urinary polyamines were extracted with n-butanol, benzoylated and analysed with HPLC; putrescine, spermine, spermidine, and cadaverine were assayed individually at 254 nm with the UV detector using ODS, G18 column with 63% methanol as solvent. RESULTS: Of the 7 patients investigated, 6 had features typical of GA. One was diagnosed to have atypical retinitis pigmentosa (case 3. The first five cases had elevated ornithine and diminished OAT, but cases 6 and 7 had near-normal ornithine and case 7 had near-normal OAT. However, all 7 patients had increased levels of total polyamines in urine compared to normals. Five had increased putrescine and three had increased spermine. All the 7 had decreased cadaverine in urine. Thus, though there were inconsistencies with ornithine and OAT, all the 7 patients had elevated polyamines from ornithine and decreased cadaverine. CONCLUSION: In addition to estimating ornithine and OAT in GA, it is suggested that urinary polyamines may be analysed as the latter appears to correlate better with the clinical condition and help in the diagnosis to a greater extent. Moreover, while ornithine is an innocuous amino acid, polyamines are known to damage DNA and proteins.

  9. Executive functioning in patients with blepharospasm in comparison with patients with hemifacial spasm Funções executivas em pacientes com blefaroespasmo em comparação a pacientes com espasmo hemifacial

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    Fernando Machado Vilhena Dias

    2009-03-01

    Full Text Available BACKGROUND: Non-motor symptoms have been described in primary dystonia, but the results on cognitive impairment in this condition are discordant. Blepharospasm (BM is a type of primary focal dystonia characterized by recurrent and involuntary eye blinking. Hemifacial spasm (HS, a condition with different pathophysiology, constitutes an adequate control group when investigating non-motor disturbances in BM. OBJECTIVE:To compare the performance of patients with BM and HS in the Frontal Assessment Battery (FAB. METHOD: Twenty-two patients with BM and 29 patients with HS were submitted to the FAB and the Mini-Mental State Examination (MMSE. FAB scores were compared between the two groups. Correlations between FAB and sociodemographic and clinical variables were calculated. RESULTS: BM group was not different from HS in relation to gender, age, length of symptoms, educational level and performance in the MMSE. FAB scores were also similar in both groups. FAB scores correlated negatively with age and positively with educational level and MMSE scores. CONCLUSION: Executive functioning as assessed by FAB is not altered in BM in comparison with HS.INTRODUÇÃO: Alterações não-motoras são descritas na distonia primária, embora sejam conflitantes os resultados sobre prejuízo cognitivo nessa condição. Blefaroespasmo (BE é um tipo de distonia primária focal caracterizada por contrações recorrentes e involuntárias das pálpebras. Espasmo hemifacial (EH, cuja fisiopatologia é distinta do BE, constitui bom grupo controle quando se investiga alterações não-motoras no BE. OBJETIVO: Comparar o desempenho de pacientes com BE e com EH na Bateria de Avaliação Frontal (BAF. MÉTODO: BAF e Mini-Exame do Estado Mental (MEEM foram administrados a 22 pacientes com BE e 29 com EH. Os escores da BAF foram comparados entre os dois grupos. Correlações entre resultados na BAF e variáveis sócio-demográficas e clínicas foram calculadas. RESULTADOS: Os

  10. Botulinum toxin type A in the treatment of hemifacial spasm: an 11-year experience Toxina botulínica tipo A no tratamento do espasmo hemifacial: 11 anos de experiência

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    Egberto Reis Barbosa

    2010-08-01

    Full Text Available In order to evaluate the long-term effect of botulinum toxin type A (BTX in the treatment of hemifacial spasm (HFS, a retrospective analysis of patients treated at the Movement Disorders Unit of the Division of Neurology, Clinical Hospital, University of São Paulo, School of Medicine from 1993 to 2004 was made. A total of 808 injections with BTX were administered to 54 patients with HFS. The mean duration of improvement per application was 3.46 months and the mean rate of improvement using subjective judgement by the patient was of 83%. Adverse effects, mostly minor, were observed in 64.8% of patients at least once along the period of follow-up and the most frequent of them was orbicularis oris paralysis (38.8%. There was no decrement in response when compared the first and the last injection recorded.Para avaliar o efeito em longo prazo da toxina botulínica tipo A (TXB no tratamento do espasmo hemifacial (EHF, foi feita uma análise retrospectiva de pacientes tratados no Ambulatório de Distúrbios do Movimento da Divisão de Clínica Neurológica - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo no período de 1993 a 2004. Um total de 808 aplicações de TXB foram administradas a 54 pacientes com EHF. A duração média de melhora foi de 3,46 meses e a taxa média de melhora segundo avaliação subjetiva do paciente foi de 83%. Efeitos adversos, em sua maioria menores, foram observados em 64,8% dos pacientes ao menos uma vez durante o seguimento e o mais freqüente foi paralisia do orbicular da boca (38,3%. Não se observou decremento na resposta quando se comparou a primeira com a última aplicação anotada.

  11. Progressive Brain Atrophy in Super-refractory Status Epilepticus.

    Science.gov (United States)

    Hocker, Sara; Nagarajan, Elanagan; Rabinstein, Alejandro A; Hanson, Dennis; Britton, Jeffrey W

    2016-10-01

    Prolonged seizures in super-refractory status epilepticus (SRSE) have been shown to cause neuronal death and reorganization, and visual inspection in individual case studies has demonstrated progressive cortical and subcortical atrophy. At present, magnetic resonance imaging (MRI) studies that evaluate brain atrophy in SRSE are lacking. To document and quantify the development of atrophy over time in SRSE. This retrospective medical record review included all patients with SRSE who were admitted to a tertiary referral campus of the Mayo Clinic Hospital with SRSE from January 1, 2001, to December 31, 2013. Patients with (1) an initial MRI scan performed within 2 weeks of SRSE onset, (2) a second MRI scan within 6 months of SRSE resolution, and (3) a minimum duration of 1 week between MRI scans were included. The ventricular brain ratio (VBR) was measured on T2-weighted fluid-attenuated inversion recovery (FLAIR) images at disease onset and during follow-up. Measurements were performed on axial FLAIR images with section thickness of less than 5 mm. The plane immediately superior to the caudate head was chosen for analysis. The hypothesis that atrophy develops during SRSE despite seizure control (electroencephalogram background suppression with anesthetic drugs) was tested. Data were analyzed from June 1 to December 31, 2015. Change in VBR (ΔVBR) as a percentage of the starting measure. Nineteen patients met the inclusion criteria; these included 10 men (53%) and 9 women (47%) with a median age of 41 (interquartile range [IQR], 25-68) years. Anesthetic agents were required for a median of 13 (IQR, 5-37) days. Initial MRI was performed a median of 2 (IQR, 1-7.5) days from the onset of SRSE, and the second MRI was performed a median of 11 (IQR, 5-15.5) days from the resolution of SRSE, with a median of 40 (IQR, 15-65) days between MRI scans. Median ΔVBR was 23.3% (IQR, 10.5%-70.3%). A significant correlation between the duration of anesthetic agent use and ΔVBR was

  12. Infraspinatus muscle atrophy from suprascapular nerve compression.

    Science.gov (United States)

    Cordova, Christopher B; Owens, Brett D

    2014-02-01

    Muscle weakness without pain may signal a nerve compression injury. Because these injuries should be identified and treated early to prevent permanent muscle weakness and atrophy, providers should consider suprascapular nerve compression in patients with shoulder muscle weakness.

  13. Mitochondrial signaling contributes to disuse muscle atrophy

    National Research Council Canada - National Science Library

    Powers, Scott K; Wiggs, Michael P; Duarte, Jose A; Zergeroglu, A Murat; Demirel, Haydar A

    2012-01-01

    It is well established that long durations of bed rest, limb immobilization, or reduced activity in respiratory muscles during mechanical ventilation results in skeletal muscle atrophy in humans and other animals...

  14. Testicular atrophy following paediatric primary orchidopexy: A prospective study.

    Science.gov (United States)

    Durell, J; Johal, N; Burge, D; Wheeler, R; Griffiths, M; Kitteringham, L; Stanton, M; Manoharan, S; Steinbrecher, H; Malone, P; Griffin, S J

    2016-08-01

    With the Nordic consensus statement advocating orchidopexy at an earlier age, the present study sought to investigate the outcomes of primary paediatric orchidopexy at a tertiary UK centre. To prospectively assess testicular atrophy following primary orchidopexy for undescended testes in a paediatric population. Secondary outcomes were complication rates and whether outcomes were dependent on grade of operating surgeon. Prospective data regarding age at operation, classification of the undescended testis, length of follow-up, and subjective comparison of intraoperative and postoperative testicular volumes compared with the contralateral testis were collected. Testicular atrophy was defined as >50% loss of testicular volume or a postoperative testicular volume atrophy occurred in 2.6% of cases. There was no reported testicular re-ascent. All secondary acquired cases underwent a previous ipsilateral hernia repair. There was no significant difference in outcomes comparing the grade of surgeon (consultant n = 8, trainee/staff-grade surgeon n = 7-8). There was a trend towards postoperative catch-up growth in approximately one fifth of cases. Previous studies have reported a testicular atrophy rate of 5%. The present study reported a similar rate of 2.6%. In agreement with a previous publication, it was also found that testicular atrophy was not dependent on the grade of operating surgeon. The mechanism for testicular catch-up growth is not well understood. Animal studies have supported the hypothesis that increased temperature has a detrimental effect on testicular volume. However, follow-up in the present cohort was short (median 6.9 months), making interpretation of this finding difficult. It is acknowledged that clinical palpation alone to determine testicular volume potentially introduces intra-observer and inter-observer error. However, prospective studies using ultrasound to determine testicular volumes following orchidopexy have reported catch-up growth. This

  15. Hippocampal atrophy rates in Alzheimer disease

    Science.gov (United States)

    Henneman, W J.P.; Sluimer, J D.; Barnes, J; van der Flier, W M.; Sluimer, I C.; Fox, N C.; Scheltens, P; Vrenken, H; Barkhof, F

    2009-01-01

    Objective: To investigate the added value of hippocampal atrophy rates over whole brain volume measurements on MRI in patients with Alzheimer disease (AD), patients with mild cognitive impairment (MCI), and controls. Methods: We included 64 patients with AD (67 ± 9 years; F/M 38/26), 44 patients with MCI (71 ± 6 years; 21/23), and 34 controls (67 ± 9 years; 16/18). Two MR scans were performed (scan interval: 1.8 ± 0.7 years; 1.0 T), using a coronal three-dimensional T1-weighted gradient echo sequence. At follow-up, 3 controls and 23 patients with MCI had progressed to AD. Hippocampi were manually delineated at baseline. Hippocampal atrophy rates were calculated using regional, nonlinear fluid registration. Whole brain baseline volumes and atrophy rates were determined using automated segmentation and registration tools. Results: All MRI measures differed between groups (p < 0.005). For the distinction of MCI from controls, larger effect sizes of hippocampal measures were found compared to whole brain measures. Between MCI and AD, only whole brain atrophy rate differed significantly. Cox proportional hazards models (variables dichotomized by median) showed that within all patients without dementia, hippocampal baseline volume (hazard ratio [HR]: 5.7 [95% confidence interval: 1.5–22.2]), hippocampal atrophy rate (5.2 [1.9–14.3]), and whole brain atrophy rate (2.8 [1.1–7.2]) independently predicted progression to AD; the combination of low hippocampal volume and high atrophy rate yielded a HR of 61.1 (6.1–606.8). Within patients with MCI, only hippocampal baseline volume and atrophy rate predicted progression. Conclusion: Hippocampal measures, especially hippocampal atrophy rate, best discriminate mild cognitive impairment (MCI) from controls. Whole brain atrophy rate discriminates Alzheimer disease (AD) from MCI. Regional measures of hippocampal atrophy are the strongest predictors of progression to AD. GLOSSARY AD = Alzheimer disease; BET = brain

  16. Neurosyphilis with dementia and bilateral hippocampal atrophy on brain magnetic resonance imaging

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    Mehrabian Shima

    2012-09-01

    Full Text Available Abstract Background This article reports a rare case of active neurosyphilis in a man with mild to moderate dementia and marked hippocampal atrophy, mimicking early onset Alzheimer’s disease. Few cases have so far described bilateral hippocampal atrophy mimicking Alzheimer’s disease in neurosyphilis. Case presentation The patient presented here is a 33 year old Bulgarian male, whose clinical features include progressive cognitive decline and behavioral changes over the last 18 months. Neuropsychological examination revealed mild to moderate dementia (Mini Mental State Examination score was 16/30 with impaired memory and attention, and executive dysfunction. Pyramidal, and extrapyramidal signs, as well as dysarthria and impairment in coordination, were documented. Brain magnetic resonance imaging showed cortical atrophy with noticeable bilateral hippocampal atrophy. The diagnosis of active neurosyphilis was based on positive results of the Venereal Disease Research Laboratory test/Treponema pallidum hemagglutination reactions in blood and cerebrospinal fluid samples. In addition, cerebrospinal fluid analysis showed pleocytosis and elevated protein levels. High-dose intravenous penicillin therapy was administered. At 6 month follow up, improvements were noted clinically, on neuropsychological examinations, and in cerebrospinal fluid samples. Conclusion This case underlines the importance of early diagnosis of neurosyphilis. The results suggest that neurosyphilis should be considered when magnetic resonance imaging results indicate mesiotemporal abnormalities and hippocampal atrophy. Neurosyphilis is a treatable condition which requires early aggressive antibiotic therapy.

  17. Preprosthetic and implantological surgery in patients with severe maxillary atrophy.

    Science.gov (United States)

    González-García, Raúl; Naval-Gías, Luís; Muñoz-Guerra, Mario Fernando; Sastre-Pérez, Jesús; Rodríguez-Campo, Francisco José; Gil-Díez-Usandizaga, José Luís

    2005-01-01

    To evaluate the success of the osseointegration of dental implants in patients with severe maxillary atrophy after sinus lift augmentation and onlay graft surgery with autologous bone grafts. A descriptive and analytic study of 27 patients with severe maxillary atrophy and partial or total edentulism, after 4 years follow-up. All cases underwent to autologous bone graft sinus lift augmentation with or without onlay grafts in the anterior maxillae. After this, reconstruction with osseointegrated implants was performed. After the follow-up period, 89.1% of implants were osseointegrated and loaded. Anterior iliac crest bone graft provides good results with respect to implant osseointegration. The achievement of two surgical procedures for bone grafts surgery and implants surgery, separated 2 or more months, provides better results for osseointegration in comparison to a sole surgical procedure (p<0.01). Implants survival predictability is greater when a second surgical procedure is performed, once bone grafts have experimented an appropriate consolidation. The use of onlay graft and sinus lift augmentation techniques is useful in the resolution of complex problems such as the severe maxillary atrophy.

  18. Toxina botulínica no blefaroespasmo, no espasmo hemifacial e na distonia cervical: resultados em 33 pacientes Botulinum toxin in blepharospasm, hemifacial spasm and cervical dystonia: results in 33 patients

    Directory of Open Access Journals (Sweden)

    Sérgio Ap. Novis

    1995-09-01

    Full Text Available Avaliamos os resultados terapêuticos obtidos com o emprego de toxina botulínica do tipo A em 33 pacientes com distonia (12 com blefaroespamo; 10 com espasmo hemifacial e 11 com torcicolo espasmódico. Utilizamos uma escala de pontuação de gravidade antes de cada aplicação, sendo reavaliados duas semanas após, seguindo a mesma escala. Entre os com blefaroespasmo, oito eram mulheres e quatro homens; a média de idade foi 57,7 anos; a média do tempo de doença de quatro anos; três tinham história similar na família; nove eram essenciais e três fizeram uso de neurolépticos (distonia tardia. A dose média empregada ficou em 51,3 U, com a duração média do efeito benéfico de 2,8 meses. Do total de 22 aplicações (injeções e reinjeções, 14 (63,7% tiveram resultado ótimo, 5 (22,7% bom e três (13,6% nulo. Naqueles com espasmo hemifacial, oito eram mulheres e dois homens; a média de idade foi 52,6 anos; a média do tempo de doença 7,4 anos; oito eram essenciais e dois pós-páralíticos. A dose média empregada ficou em 32 U. Do total de 15 aplicações, todos (100% tiveram resultado ótimo, com a duração média do efeito benéfico de 3,4 meses. Nos pacientes com distonia cervical, oito eram homens e três mulheres; a média de idade foi 44,2 anos; a média do tempo de doença 12,2 anos; seis eram essenciais, três fizeram uso de neuroléptico e dois tinham história familiar. A dose média empregada ficou em 238,6 U, com a duração média do efeito benéfico de 4,7 meses. Do total de 20 aplicações, 18 (90% tiveram resultado bom, 1 (5% regular e 1 (5% nulo. Ptose palpebral, paresia facial e disfagia foram os efeitos colaterais mais encontrados. Concluímos que a toxina botulínica revelou-se eficaz no tratamento destas condições.The effects of botulinum toxin type A were studied in 33 patients with dystonia (12 blepharospasms, 10 hemifacial spasms and 11 spasmodic torticollis. A rate scale was used to evaluate the severity

  19. Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy.

    Science.gov (United States)

    Angelini, Corrado; Tasca, Elisabetta; Nascimbeni, Anna Chiara; Fanin, Marina

    2014-12-01

    Muscle fatigability and atrophy are frequent clinical signs in limb girdle muscular dystrophy (LGMD), but their pathogenetic mechanisms are still poorly understood. We review a series of different factors that may be connected in causing fatigue and atrophy, particularly considering the role of neuronal nitric oxide synthase (nNOS) and additional factors such as gender in different forms of LGMD (both recessive and dominant) underlying different pathogenetic mechanisms. In sarcoglycanopathies, the sarcolemmal nNOS reactivity varied from absent to reduced, depending on the residual level of sarcoglycan complex: in cases with complete sarcoglycan complex deficiency (mostly in beta-sarcoglycanopathy), the sarcolemmal nNOS reaction was absent and it was always associated with early severe clinical phenotype and cardiomyopathy. Calpainopathy, dysferlinopathy, and caveolinopathy present gradual onset of fatigability and had normal sarcolemmal nNOS reactivity. Notably, as compared with caveolinopathy and sarcoglycanopathies, calpainopathy and dysferlinopathy showed a higher degree of muscle fiber atrophy. Males with calpainopathy and dysferlinopathy showed significantly higher fiber atrophy than control males, whereas female patients have similar values than female controls, suggesting a gender difference in muscle fiber atrophy with a relative protection in females. In female patients, the smaller initial muscle fiber size associated to endocrine factors and less physical effort might attenuate gender-specific muscle loss and atrophy.

  20. Zika virus causes testicular atrophy

    Science.gov (United States)

    Uraki, Ryuta; Hwang, Jesse; Jurado, Kellie Ann; Householder, Sarah; Yockey, Laura J.; Hastings, Andrew K.; Homer, Robert J.; Iwasaki, Akiko; Fikrig, Erol

    2017-01-01

    Zika virus (ZIKV) is an emerging mosquito-borne flavivirus that has recently been found to cause fetal infection and neonatal abnormalities, including microcephaly and neurological dysfunction. ZIKV persists in the semen months after the acute viremic phase in humans. To further understand the consequences of ZIKV persistence in males, we infected Ifnar1−/− mice via subcutaneous injection of a pathogenic but nonlethal ZIKV strain. ZIKV replication persists within the testes even after clearance from the blood, with interstitial, testosterone-producing Leydig cells supporting virus replication. We found high levels of viral RNA and antigen within the epididymal lumen, where sperm is stored, and within surrounding epithelial cells. Unexpectedly, at 21 days post-infection, the testes of the ZIKV-infected mice were significantly smaller compared to those of mock-infected mice, indicating progressive testicular atrophy. ZIKV infection caused a reduction in serum testosterone, suggesting that male fertility can be affected. Our findings have important implications for nonvector-borne vertical transmission, as well as long-term potential reproductive deficiencies, in ZIKV-infected males. PMID:28261663

  1. Can antioxidants protect against disuse muscle atrophy?

    Science.gov (United States)

    Powers, Scott K

    2014-11-01

    Long periods of skeletal muscle inactivity (e.g. prolonged bed rest or limb immobilization) results in a loss of muscle protein and fibre atrophy. This disuse-induced muscle atrophy is due to both a decrease in protein synthesis and increased protein breakdown. Although numerous factors contribute to the regulation of the rates of protein breakdown and synthesis in skeletal muscle, it has been established that prolonged muscle inactivity results in increased radical production in the inactive muscle fibres. Further, this increase in radical production plays an important role in the regulation of redox-sensitive signalling pathways that regulate both protein synthesis and proteolysis in skeletal muscle. Indeed, it was suggested over 20 years ago that antioxidant supplementation has the potential to protect skeletal muscles against inactivity-induced fibre atrophy. Since this original proposal, experimental evidence has implied that a few compounds with antioxidant properties are capable of delaying inactivity-induced muscle atrophy. The objective of this review is to discuss the role that radicals play in the regulation of inactivity-induced skeletal muscle atrophy and to provide an analysis of the recent literature indicating that specific antioxidants have the potential to defer disuse muscle atrophy.

  2. Serological assessment of gastric mucosal atrophy in gastric cancer

    Directory of Open Access Journals (Sweden)

    Bornschein Jan

    2012-01-01

    Full Text Available Abstract Background Non-invasive tools for gastric cancer screening and diagnosis are lacking. Serological testing with the detection of pepsinogen 1 (PG1, pepsinogen 2 (PG2 and gastrin 17 (G17 offers the possibility to detect preneoplastic gastric mucosal conditions. Aim of this study was to assess the performance of these serological tests in the presence of gastric neoplasia. Methods Histological and serological samples of 118 patients with gastric cancer have been assessed for tumor specific characteristics (Laurén type, localisation, degree of mucosal abnormalities (intestinal metaplasia, atrophy and serological parameters (PG1, PG2, PG1/2-ratio, G17, H. pylori IgG, CagA status. Association of the general factors to the different serological values have been statistically analyzed. Results Patients with intestinal type gastric cancer had lower PG1 levels and a lower PG1/2-ratio compared to those with diffuse type cancer (p = 0.003. The serum levels of PG2 itself and G17 were not significantly altered. H. pylori infection in general had no influence on the levels of PG1, PG2 and G17 in the serum of gastric cancer patients. There was a trend towards lower PG1 levels in case of positive CagA-status (p = 0.058. The degree of both intestinal metaplasia and atrophy correlated inversely with serum levels for PG1 and the PG1/2-ratio (p Conclusions Glandular atrophy and a positive CagA status are determinant factors for decreased pepsinogen 1 levels in the serum of patients with gastric cancer. The serological assessment of gastric atrophy by analysis of serum pepsinogen is only adequate for patients with intestinal type cancer.

  3. Upregulation of Nav1.8 in demyelinated facial nerves might be relevant to the generation of hemifacial spasm.

    Science.gov (United States)

    Xia, Lei; Dou, Ning-Ning; Zhong, Jun; Zhu, Jin; Wang, Yong-Nan; Liu, Ming-Xing; Visocchi, Massimiliano; Li, Shi-Ting

    2014-07-01

    Our previous studies demonstrated that the abnormal muscle response could vanish when the ipsilateral superior cervical ganglion was removed and reappear when norepinephrine was dripped at the neurovascular conflict site. Evidentially, we believed that the mechanism of hemifacial spasm should involve emersion of ectopical action potential in the compressed facial nerve fibers. As the action potential is ignited by ion channel opening, we focused on Nav1.8 that has been found overexpressed in peripheral nerve while damaged. In this study, Moller model was adopted, 20 Sprague-Dawley rats underwent drip of norepinephrine, and the abnormal muscle response wave was monitored in 14 rats. Antibodies against unique epitopes of the α subunit of sodium channel isoforms were used to detect the Nav1.8 neuronal isoforms, and the immunohistochemistry showed strong staining in 13 rats, which were all in the abnormal muscle response positive group (P spasm is an ectopic action potential that emerged on the damaged facial nerve, which might be coupled by Nav1.8.

  4. Global brain atrophy but not hippocampal atrophy is related to type 2 diabetes

    NARCIS (Netherlands)

    Wisse, L.E.; Bresser, J. de; Geerlings, M.I.; Reijmer, Y.D.; Portegies, M.L.; Brundel, M.; Kappelle, L.J.; Graaf, Y. van der; Biessels, G.J.; Kessels, R.P.C.

    2014-01-01

    AIMS: It has been suggested that in patients with type 2 diabetes mellitus (T2DM), brain atrophy is most pronounced in the hippocampus, but this has not been investigated systematically. The present pooled analysis of three studies examined if hippocampal atrophy is more prominent than global brain

  5. Can endoscopic atrophy predict histological atrophy? Historical study in United Kingdom and Japan.

    Science.gov (United States)

    Kono, Shin; Gotoda, Takuji; Yoshida, Shigeaki; Oda, Ichiro; Kondo, Hitoshi; Gatta, Luigi; Naylor, Greg; Dixon, Michael; Moriyasu, Fuminori; Axon, Anthony

    2015-12-14

    To assess the diagnostic concordance between endoscopic and histological atrophy in the United Kingdom and Japan. Using published data, a total of 252 patients, 126 in the United Kingdom and 126 in Japan, aged 20 to 80 years, were evaluated. The extent of endoscopic atrophy was classified into five subgroups according to a modified Kimura-Takemoto classification system and was compared with histological findings of atrophy at five biopsy sites according to the updated Sydney system. The strength of agreement of the extent of atrophy between histology and visual endoscopic inspection showed good reproducibility, with a weighted kappa value of 0.76 (P atrophy (OR = 0.10, 95%CI: 0.03-0.36). The strength of agreement between endoscopic and histological atrophy, assessed by cancer risk-oriented grading, was reproducible, with a kappa value of 0.81 (95%CI: 0.75-0.87). Only nine patients (3.6%) were endoscopically underdiagnosed with antral predominant rather than extensive atrophy and were considered false negatives. Endoscopic grading can predict histological atrophy with few false negatives, indicating that precancerous conditions can be identified during screening endoscopy, particularly in patients in western countries.

  6. Transverse facial cleft: A series of 17 cases

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    L K Makhija

    2011-01-01

    Full Text Available Introduction: Transverse facial cleft (Tessier type 7 or congenital macrostomia is a rare congenital anomaly seldom occurring alone and is frequently associated with deformities of the structures developing from the first and second branchial arches. The reported incidence of No. 7 cleft varies from 1 in 60,000 to 1 in 300,000 live births. Material and Methods: Seventeen patients of transeverse facial cleft who presented to us in last 5 years were included in the study. Their history regarding familial and environmental predispositions was recorded. The cases were analysed on basis of sex, laterality, severity, associated anomalies and were graded according to severity. They were operated by z plasty technique and were followed up for 2 years to look for effectiveness of the technique and its complications. Result: Out of the seventeen patients of transverse cleft, none had familial predilection or any environmental etiology like antenatal radiological exposure or intake of drugs of teratogenic potential. Most of the patients (9/17 were associated with hemifacial microsomia and 1 patient was associated with Treacher Colin′s Syndrome. Out of the 6 cases of Grade I clefts, 4 were isolated transverse clefts and of the 10 patients of Grade II clefts, 7 were associated with hemifacial microsomia. We encountered only one case of Grade III Transverse Cleft which was not only associated with hemifacial microsomia but also had cardiac anomaly. Out of the17 cases, 15 were operated and in most of them the outcome was satisfactory.

  7. No relevant midbrain atrophy in Parkinson's disease.

    Science.gov (United States)

    Mäkinen, E; Joutsa, J; Isotalo, J; Kaasinen, V

    2016-11-01

    To investigate whether significant midbrain atrophy is present in Parkinson's disease (PD), and if so, whether it can be used as a marker of striatal dopaminergic degeneration. In total, 150 PD patients and 155 controls were scanned with both brain dopamine transporter (DAT) [(123) I]FP-CIT SPECT and 1.5T MRI. Midbrain atrophy was measured from sagittal MRIs using the midbrain-to-pons ratios. Both striatal region-of-interest-based (Brass) and striatal and extrastriatal voxel-by-voxel-based DAT binding (SPM8) were investigated in relation to midbrain atrophy. The midbrain-to-pons ratios in PD patients were slightly lower than those in the controls (mean 0.59 vs 0.61, P atrophy is present in PD and can be detected with MRI. However, the midbrain atrophy in PD is not associated with the level of striatal dopaminergic dysfunction, and midbrain measurements therefore cannot be used as a clinically useful predictor of dopamine function. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Chorioretinal Atrophy after Spontaneous Resolution of Myopic Foveoschisis

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    Antonio García-Ben

    2014-01-01

    Full Text Available Myopic foveoschisis is one of the major complications of pathologic myopia, and it was most recently identified by new imaging modalities. During the natural evolution of this complication, anatomical and visual improvement without surgical intervention is an unusual course, and most of these eyes remain stable or progressively worsen. The authors report a case of a highly myopic eye that developed patchy chorioretinal atrophy after spontaneous resolution of myopic foveoschisis, which to the best of our knowledge has not been reported previously in the medical literature.

  9. Newly developed vaginal atrophy symptoms II and vaginal pH: a better correlation in vaginal atrophy?

    Science.gov (United States)

    Tuntiviriyapun, P; Panyakhamlerd, K; Triratanachat, S; Chatsuwan, T; Chaikittisilpa, S; Jaisamrarn, U; Taechakraichana, N

    2015-04-01

    The primary objective of this study was to evaluate the correlation among symptoms, signs, and the number of lactobacilli in postmenopausal vaginal atrophy. The secondary objective was to develop a new parameter to improve the correlation. A cross-sectional descriptive study. Naturally postmenopausal women aged 45-70 years with at least one clinical symptom of vaginal atrophy of moderate to severe intensity were included in this study. All of the objective parameters (vaginal atrophy score, vaginal pH, the number of lactobacilli, vaginal maturation index, and vaginal maturation value) were evaluated and correlated with vaginal atrophy symptoms. A new parameter of vaginal atrophy, vaginal atrophy symptoms II, was developed and consists of the two most bothersome symptoms (vaginal dryness and dyspareunia). Vaginal atrophy symptoms II was analyzed for correlation with the objective parameters. A total of 132 naturally postmenopausal women were recruited for analysis. Vaginal pH was the only objective parameter found to have a weak correlation with vaginal atrophy symptoms (r = 0.273, p = 0.002). The newly developed vaginal atrophy symptoms II parameter showed moderate correlation with vaginal pH (r = 0.356, p atrophy score (r = 0.230, p atrophy symptoms and the objective parameters. Vaginal pH was significantly correlated with vaginal atrophy symptoms. The newly developed vaginal atrophy symptoms II was associated with a better correlation. The vaginal atrophy symptoms II and vaginal pH may be better tools for clinical evaluation and future study of the vaginal ecosystem.

  10. The Risk of Vocal Fold Atrophy after Serial Corticosteroid Injections of the Vocal Fold.

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    Shi, Lucy L; Giraldez-Rodriguez, Laureano A; Johns, Michael M

    2016-11-01

    The aim of this study was to illustrate the risk of vocal fold atrophy in patients who receive serial subepithelial steroid injections for vocal fold scar. This study is a retrospective case report of two patients who underwent a series of weekly subepithelial infusions of 10 mg/mL dexamethasone for benign vocal fold lesion. Shortly after the procedures, both patients developed a weak and breathy voice. The first patient was a 53-year-old man with radiation-induced vocal fold stiffness. Six injections were performed unilaterally, and 1 week later, he developed unilateral vocal fold atrophy with new glottal insufficiency. The second patient was a 67-year-old woman with severe vocal fold inflammation related to laryngitis and calcinosis, Raynaud's phenomenon, esophagean dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome. Five injections were performed bilaterally, and 1 week later, she developed bilateral vocal fold atrophy with a large midline glottal gap during phonation. In both cases, the steroid-induced vocal atrophy resolved spontaneously after 4 months. Serial subepithelial steroid infusions of the vocal folds, although safe in the majority of patients, carry the risk of causing temporary vocal fold atrophy when given at short intervals. Copyright © 2016 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

  11. Qualidade de vida e custos diretos em pacientes com blefaroespasmo essencial e espasmo hemifacial, tratados com toxina botulínica-A

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    Osaki Midori Hentona

    2004-01-01

    Full Text Available OBJETIVO: Avaliar os custos e a qualidade de vida dos pacientes com blefaroespasmo essencial e espasmo hemifacial, submetidos à terapia com a toxina botulínica-A. MÉTODOS: Vinte e oito pacientes, sendo 16 com blefaroespasmo essencial e 12 com espasmo hemifacial, tratados com toxina botulínica-A, foram avaliados por meio de dois instrumentos: o SF-36 e a Escala de Disfunção de Blefaroespasmo. Os custos foram calculados segundo o número de unidades da toxina utilizadas por cada paciente no período de um ano. RESULTADOS: O custo total direto foi estimado em 1081,62 reais por ano (±89,39 para blefaroespasmo essencial e 618,06 reais por ano (±60,06 para espasmo hemifacial, para tratamento ambulatorial (p<0,001. Antes do tratamento, todos os domínios do SF-36 foram significantemente piores em ambas as doenças. Sob tratamento efetivo com toxina botulínica-A, os aumentos nos índices do SF-36 evidenciaram mudanças nas taxas de saúde geral da população em estudo, com diferença estatisticamente significante entre as respostas pré e pós-tratamento (p<0,05. Relacionando-se o SF-36 com Escala de Disfunção de Blefaroespasmo, foram observadas nos casos de blefaroespasmo essencial, relações significantes positivas (capacidade funcional, estado geral, aspecto emocional e aspectos sociais, ao passo que nos pacientes com espasmo hemifacial não foi encontrada nenhuma correlação. CONCLUSÃO: Este estudo demonstra notável impacto negativo das doenças na qualidade de vida desses pacientes, e uma significante melhora em ambas as doenças após tratamento com toxina botulínica-A. Além disso, os dados fornecem subsídios para justificar o alto custo da aquisição da toxina botulínica-A, devido a seus consideráveis benefícios para a qualidade de vida.

  12. Clinical assessment of patients with primary and postparalytic hemifacial spasm: a retrospective study Análise clínica de pacientes com espasmo hemifacial primário e pós-paralítico: estudo retrospectivo

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    Andre Carvalho Felicio

    2007-09-01

    Full Text Available OBJECTIVE: To compared the clinical features of 373 patients with primary and postparalytic hemifacial spasm (HFS. METHOD: Data analyzed were gender, ethnicity, age at symptom onset, disease duration, affected side, distribution of facial spasm at onset, hypertension, family history of HFS, previous history of facial palsy and latency between facial palsy and HFS. RESULTS:The prevalence of patients with Asian origin was similar in both groups such as female/male ratio, mean age at symptom onset, disease duration, affected side and distribution at onset of facial twitching. The upper left side of the face was the main affected region at onset. Almost 40% of the patients in both groups had hypertension. A prevalence of vascular abnormalities on the posterior fossa was seen in 7% and 12.5% of both groups. CONCLUSION: The clinical profile and radiological findings of patients with primary and postparalytic HFS are similar. The association of hypertension with vascular abnormalities and HFS was not frequent.OBJETIVO: Comparar características clínicas de 373 pacientes com espasmo hemifacial (EHF primário e pós-paralítico. MÉTODO: Os dados analisados foram: sexo, etnia, idade no início dos sintomas, duração da doença, lado afetado, distribuição dos espasmos no início da doença, hipertensão arterial, história familiar de EHF, história prévia de paralisia facial periférica e latência entre a paralisia facial e o início do EHF. RESULTADOS: A prevalência de pacientes com origem asiática foi semelhante em ambos os grupos assim como razão homem/mulher, média de idade no início dos sintomas, duração da doença, lado afetado e distribuição dos espasmos no início dos sintomas. O quadrante superior esquerdo da face foi o lado mais afetado no início dos sintomas. Quase 40% dos pacientes em ambos os grupos tinha hipertensão arterial. A prevalência de anormalidades vasculares na fossa posterior foi observada, respectivamente, em 7

  13. Association between anti-endomysial antibody and total intestinal villous atrophy in children with coeliac disease.

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    Ozgenc F

    2003-01-01

    Full Text Available BACKGROUND: There is growing evidence to suggest that detection of anti-gliadin antibody (AGA and anti-endomysial antibody (EmA can serve as sensitive markers of the degree of histological abnormalities in patients with coeliac disease. AIM: To evaluate the association between the presence of AGA and EmA and villous atrophy in intestinal biopsies of children with suspected coeliac disease. SETTINGS AND DESIGN: Intestinal samples of 46 children with failure to thrive, chronic diarrhoea, malabsorption and short stature with either AGA and/or EmA positivity were evaluated, retrospectively. The diagnosis of coeliac disease was based on ESPGHAN criteria. METHODS AND MATERIAL: Patients with total villous atrophy who fulfilled the ESPGHAN criteria for the diagnosis of coeliac disease were diagnosed to have coeliac disease. Nine patients without villous atrophy were taken as negative controls for this study. AGA-IgA was measured both by immunoflourescence (IF and ELISA and EmA-IgA by IF while patients were on normal diet. Relationship between autoantibody positivity and intestinal total villous atrophy was evaluated. RESULTS: Overall positivity for AGA IgA was 85% (39/46 by IF+ELISA and EmA positivity was 85% (39/46 by IF within the study group. Histological examination revealed total villous atrophy with lymphocyte infiltration and crypt hyperplasia in 37 (80% patients. AGA IgA was positive in 14 (38% and 31 (84% of these children by ELISA and IF, respectively. EmA positivity was detected in 35/37 (95% cases with atrophy and 4/9 (44% without atrophy (p=0.002. Thirty out of 37 (81% patients with villous atrophy had both AGA IgA (IF and EmA positivity (p=0.186. All of the sixteen patients that had both positive AGA IgA (ELISA+IF and EmA had total villous atrophy (p=0.037. CONCLUSION: A significant association between total villous atrophy and EmA positivity has been documented in this study.

  14. Surgery by a retro-sigmoid keyhole approach in treatment of trigeminal neuralgia, hemi-facial spasm and glossopharyngeal neuralgia%乙状窦后锁孔手术治疗三叉神经痛、半面痉挛和舌咽神经痛

    Institute of Scientific and Technical Information of China (English)

    马兆鑫; 李明; 曹奕; 陈旭辉

    2011-01-01

    Objective The aim of the study was to describe and evaluate the efficacy of keyhole microsurgery to manage patients with trigeminal neuralgia (TN), hemi-facial spasm (HFS) and glossopharyngeal neuralgia (GPN). Methods Two hundred and seven patients underwent micro-vascular decompression (MVD) and neurotomy via the retrosigmoid keyhole approach in our department clinic; MVD for trigeminal neuralgia 169 cases, hemifacial spasm 31 cases , glossopharyngeal neuralgia 4 cases and neurotomy for glossopharyngeal neuralgia 3 cases. There was no serious complication such as deaths or infarction in the cerebellum or the brainstem. Results Complete and partial symptoms relief was obtained in 160 (94.7% ) cases and failure in 9 (5.3% ) cases with MVD for trigeminal neuralgia, postoperatively. Also, complications occurred in one case with only cerebellar hematoma. The postoperative results of MVD for hemi-facial spasm with symptoms relief was noted in 29 (93.5% ) cases and failure in 2 (6.5% ) cases. Postoperative complications occurred in one case with moderate hearing loss, and another three cases complained of transient facial paralysis. Symptoms relief was achieved in all 7 (100% ) cases that had undergone MVD or neurotomy for glosspharyngeal neuralgia. Postoperative complications occurred in one case with moderate vocal paralysis. Conclusion We think that microsurgery via the retro-sigmoid keyhole approach is safe and effective for CPA hyperactive cranial nerve dysfunction syndromes.%目的 评价锁孔术治疗三叉神经痛(TN)、半面痉挛(HFS)和舌咽神经痛(GPN)的疗效.方法 对207例患者实施乙状窦后锁孔入路微血管减压术(MVD)和神经切断术,其中三叉神经痛169例,半面痉挛31例,舌咽神经痛7例.结果 三叉神经痛治愈和好转160例(94.7%),无效9(5.3%);半面痉挛患者治愈29例(93.5%),无效2例(6.5%);舌咽神经痛患者治愈7例(100%).术后未发生严重并发症,如死亡或小脑、脑干梗死等.

  15. Cardiac Atrophy and Heart Failure In Cancer.

    Science.gov (United States)

    Sweeney, Mark; Yiu, Angela; Lyon, Alexander R

    2017-04-01

    Functional changes in the heart in patients with cancer can be a result of both the disease itself and various cancer therapies, and limiting cardiac damage has become an increasingly important issue as survival rates in patients with cancer have improved. Processes involved in cancer-induced cardiac atrophy may include cardiomyocyte atrophy and apoptosis, decreased protein synthesis, increased autophagy and proteolysis via the ubiquitin-proteosome system. Further to direct effects of malignancy on the heart, several chemotherapeutic agents are known to affect the myocardium, in particular the anthracyclines. The aim of this report is to review the effects of cancer and cancer treatment on the heart and what is known about the underlying mechanisms. Furthermore, clinical strategies to limit and treat cancer-associated cardiac atrophy are discussed, emphasising the benefit of a multidisciplinary approach by cardiologists and oncologists to optimise models of care to improve outcomes for patients with cancer.

  16. Does gastric atrophy exist in children?

    Institute of Scientific and Technical Information of China (English)

    Georges Dimitrov; Frédéric Gottrand

    2006-01-01

    Several clinical reports confirmed that gastric atrophy is a pathology not only limited to adult patients. In pediatrics, it is most often described in association with a Hpylori infection but this bacteria does not seem to be the only etiological factor of this preneoplastic state in children. The frequency of gastric atrophy and intestinal metaplasia in children are unknown because they are not systematically sought during upper gastrointestinal endoscopy. The lack of specific histological classification of children's gastropathies makes their diagnosis difficult for pathologists. Based on our knowledge to date, we think that it is necessary to describe, in detail, the natural course of this lesion during childhood. A close and prolonged clinical and endoscopic follow-up is important for children with gastric atrophy.

  17. Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy

    Science.gov (United States)

    Deguise, Marc-Olivier; Boyer, Justin G.; McFall, Emily R.; Yazdani, Armin; De Repentigny, Yves; Kothary, Rashmi

    2016-01-01

    Motor neuron loss and neurogenic atrophy are hallmarks of spinal muscular atrophy (SMA), a leading genetic cause of infant deaths. Previous studies have focused on deciphering disease pathogenesis in motor neurons. However, a systematic evaluation of atrophy pathways in muscles is lacking. Here, we show that these pathways are differentially activated depending on severity of disease in two different SMA model mice. Although proteasomal degradation is induced in skeletal muscle of both models, autophagosomal degradation is present only in Smn2B/− mice but not in the more severe Smn−/−; SMN2 mice. Expression of FoxO transcription factors, which regulate both proteasomal and autophagosomal degradation, is elevated in Smn2B/− muscle. Remarkably, administration of trichostatin A reversed all molecular changes associated with atrophy. Cardiac muscle also exhibits differential induction of atrophy between Smn2B/− and Smn−/−; SMN2 mice, albeit in the opposite direction to that of skeletal muscle. Altogether, our work highlights the importance of cautious analysis of different mouse models of SMA as distinct patterns of atrophy induction are at play depending on disease severity. We also revealed that one of the beneficial impacts of trichostatin A on SMA model mice is via attenuation of muscle atrophy through reduction of FoxO expression to normal levels. PMID:27349908

  18. In vivo models of multiple system atrophy.

    Science.gov (United States)

    Fernagut, Pierre-Olivier; Ghorayeb, Imad; Diguet, Elsa; Tison, François

    2005-08-01

    Multiple system atrophy (MSA) is a sporadic adult-onset neurodegenerative disorder of unknown etiology clinically characterized by a combination of parkinsonian, pyramidal, and cerebellar signs. Levodopa-unresponsive parkinsonism is present in 80% of MSA cases, and this dominant clinical presentation (MSA-P) is associated with a combined degeneration of the substantia nigra pars compacta and the striatum in anatomically related areas. The limited knowledge of the pathophysiology of MSA and the lack of therapeutic strategies prompted the development of lesion models reproducing striatonigral degeneration, the substrate of levodopa-unresponsive parkinsonism in MSA-P. This method was carried out first in rats with two different stereotaxic strategies using either two neurotoxins ("double toxin-double lesion") or a single neurotoxin ("single toxin-double lesion"). Double-lesioned rat models showed severe motor impairment compared to those with a single nigral or striatal lesion and helped to mimic different stages of the disease. Systemic models were also developed in mice and primates using the nigral toxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and the striatal toxin 3-nitropropionic (3-NP). In mice, although MPTP reduced the subsequent sensitivity to 3-NP in a sequential lesion, simultaneous nigral and striatal insults were shown to exacerbate striatal damage. MPTP-treated monkeys displayed a significant worsening of parkinsonism and a loss of levodopa-responsiveness after the appearance of hindlimb dystonia and striatal lesion formation induced by subsequent 3-NP intoxication. The different species and intoxication paradigms used will be useful to investigate functional changes in substantia nigra and striatum and to define neuroprotective, neurorestorative, or symptomatic therapeutic strategies.

  19. Geographic atrophy phenotype identification by cluster analysis.

    Science.gov (United States)

    Monés, Jordi; Biarnés, Marc

    2017-07-20

    To identify ocular phenotypes in patients with geographic atrophy secondary to age-related macular degeneration (GA) using a data-driven cluster analysis. This was a retrospective analysis of data from a prospective, natural history study of patients with GA who were followed for ≥6 months. Cluster analysis was used to identify subgroups within the population based on the presence of several phenotypic features: soft drusen, reticular pseudodrusen (RPD), primary foveal atrophy, increased fundus autofluorescence (FAF), greyish FAF appearance and subfoveal choroidal thickness (SFCT). A comparison of features between the subgroups was conducted, and a qualitative description of the new phenotypes was proposed. The atrophy growth rate between phenotypes was then compared. Data were analysed from 77 eyes of 77 patients with GA. Cluster analysis identified three groups: phenotype 1 was characterised by high soft drusen load, foveal atrophy and slow growth; phenotype 3 showed high RPD load, extrafoveal and greyish FAF appearance and thin SFCT; the characteristics of phenotype 2 were midway between phenotypes 1 and 3. Phenotypes differed in all measured features (p≤0.013), with decreases in the presence of soft drusen, foveal atrophy and SFCT seen from phenotypes 1 to 3 and corresponding increases in high RPD load, high FAF and greyish FAF appearance. Atrophy growth rate differed between phenotypes 1, 2 and 3 (0.63, 1.91 and 1.73 mm(2)/year, respectively, p=0.0005). Cluster analysis identified three distinct phenotypes in GA. One of them showed a particularly slow growth pattern. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  20. Brain stem and cerebellar atrophy in chronic progressive neuro-Behçet's disease

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    Kanoto, Masafumi, E-mail: mkanoto@med.id.yamagata-u.ac.jp [Department of Diagnostic Radiology, Faculty of Medicine, Yamagata University, Iida-Nishi 2-2-2, 990-9585 Yamagata (Japan); Hosoya, Takaaki, E-mail: thosoya@med.id.yamagata-u.ac.jp [Department of Diagnostic Radiology, Faculty of Medicine, Yamagata University, Iida-Nishi 2-2-2, 990-9585 Yamagata (Japan); Toyoguchi, Yuuki, E-mail: c-elegans_0201g@mail.goo.ne.jp [Department of Diagnostic Radiology, Faculty of Medicine, Yamagata University, Iida-Nishi 2-2-2, 990-9585 Yamagata (Japan); Oda, Atsuko, E-mail: a.oda@med.id.yamagata-u.ac.jp [Department of Diagnostic Radiology, Faculty of Medicine, Yamagata University, Iida-Nishi 2-2-2, 990-9585 Yamagata (Japan)

    2013-01-15

    Purpose: Chronic progressive neuro-Behçet's disease (CPNBD) resembles multiple sclerosis (MS) on patient background and image findings, and therefore is difficult to diagnose. The purpose is to identify the characteristic magnetic resonance imaging (MRI) findings of CPNBD and to clarify the differences between the MRI findings of CPNBD and those of MS. Materials and methods: The subjects consist of a CPNBD group (n = 4; 1 male and 3 females; mean age, 51 y.o.), a MS group (n = 19; 3 males and 16 females; mean age, 45 y.o.) and a normal control group (n = 23; 10 males and 13 females; mean age, 45 y.o.). Brain stem atrophy, cerebellar atrophy, and leukoencephalopathy were retrospectively evaluated in each subjects. In middle sagittal brain MR images, the prepontine distance was measured as an indirect index of brain stem and cerebellar atrophy and the pontine and mesencephalic distance was measured as a direct index of brain stem atrophy. These indexes were statistically analyzed. Results: Brain stem atrophy, cerebellar atrophy, and leukoencephalopathy were seen in all CPNBD cases. Prepontine distance was significantly different between the CPNBD group and the MS group (p < 0.05), and between the CPNBD group and the normal control group (p < 0.001). Pontine and mesencephalic distance were significantly different between the CPNBD group and the MS group (p < 0.001, p < 0.01 respectively), and between the CPNBD group and the normal control group (p < 0.001). Conclusions: Chronic progressive neuro-Behçet's disease should be considered in patients with brain stem and cerebellar atrophy in addition to leukoencephalopathy similar to that seen in multiple sclerosis.

  1. Restless legs syndrome in multiple system atrophy.

    Science.gov (United States)

    Ghorayeb, Imad; Dupouy, Sandrine; Tison, François; Meissner, Wassilios G

    2014-12-01

    The purpose of the study was to evaluate the frequency of restless legs syndrome in 30 patients with multiple system atrophy. Eight patients complained from restless legs syndrome, their severity score was 19.4 ± 4.1. Pittsburgh Sleep Quality Index scores were significantly higher in patients with restless legs syndrome than those without (9.3 ± 3.7 vs. 4.8 ± 2.9, p = 0.00165). Periodic limb movements were found in 75% of patients with restless legs syndrome. Restless legs syndrome is more prevalent in multiple system atrophy as compared to the acknowledged prevalence in the general population.

  2. Posterior cortical atrophy: a brief review.

    Science.gov (United States)

    Kirshner, Howard S; Lavin, Patrick J M

    2006-11-01

    Posterior cortical atrophy is a striking clinical syndrome in which a dementing illness begins with visual symptoms. Initially, the problem may seem to be loss of elementary vision, but over time the patient develops features of visual agnosia, topographical difficulty, optic ataxia, simultanagnosia, ocular apraxia (Balint's syndrome), alexia, acalculia, right-left confusion, and agraphia (Gerstmann's syndrome), and later a more generalized dementia. Occasional patients have visual hallucinations and signs of Parkinson's disease or Lewy body dementia. A number of different neuropathologic disorders are associated with posterior cortical atrophy.

  3. Validation of a Chinese version of disease specific quality of life scale (HFS-36 for hemifacial spasm in Taiwan

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    Chang Hong-Shiu

    2009-12-01

    Full Text Available Abstract Background and object There was no Chinese questionnaire to evaluate the health-related quality of life (HRQoL in patients with hemifacial spasm (HFS. In this study, we aimed to validate a new disease-specific HRQoL scale for HFS (HFS-36 in Chinese version, and compared it to SF-36, a generic HRQoL scale. Patients and Methods The HFS-36 Chinese version was modified from English version of HFS-30, including subscales of mobility, activities of daily living (ADL, emotional well-being, stigma, social support, cognition, bodily discomfort, and communication. All the items were scored on the 5-point scales, ranging from 0(never to 4(always. Patients with HFS were asked to answer HFS-36 and SF-36 questionnaires on the same day before and 6-8 weeks after Botulinum toxin (BTX injections, respectively. The reliability and validity of HFS-36 scale were evaluated statistically. Results Totally, 103 patients (68 females; 35 males were recruited in this study, with a mean age of 57.6 ± 11.5 years and a mean duration of HFS for 7.6 ± 5.8 years. The intra-class correlation (ICC and Cronbach's α were over 0.7 in the majority of items. HFS-36 showed a good correlation to HFS severity before BTX treatment and a significant improvement of subscale scoring after BTX treatment. HFS-36 also had a significant correlation to the mental health of SF-36. Conclusions The Chinese version of HFS-36 demonstrated a good reliability and validity in subscales of motility, ADL, emotion well-being, stigma and bodily discomfort. The HRQoL was significantly improved after BTX treatment assessed by HFS-36 or SF-36. Compared to SF-36, HFS-36 scale was more sensitive and specific to evaluate the HRQoL in HFS.

  4. Identification of offending vessele in trigeminal neuralgia and hemifacial spasm using SPGR-MRI and 3D-TOF-MRA

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    Niwa, Yoshikazu; Shiotani, Masahiro; Karasawa, Hidetake; Ohseto, Kiyoshige; Naganuma, Yoshikazu [Kanto Teishin Hospital, Tokyo (Japan)

    1996-04-01

    We investigated 100 consecutive patients with trigeminal neuralgia (TN) and 53 patients with hemifacial spasm (HFS) concerning the anatomical relationship between the root entry (exit) zone (REZ) of cranial nerve and the offending artery, using spoiled GRASS MRI (SPGR-MRI) and three dimensional-time of fly-MRA (MRA). In 67 of 100 (67%) patients with TN, this new radiological method, SPGR-MRI and MRA demonstrated the relationship between the fifth cranial nerve root and offending artery causing neurovascular compression (NVC), and in 46 of 53 (87%) with HFS, demonstrated the similar relationship between seventh and eighth nerve complex and offending artery. Microvascular decompression (MVD) was performed in 10 with HFS, and NVC of the REZ of the facial nerve caused by the offending artery was exactly predicted by SPGR-MRI and MRA in 9 (90%). The combination of SPGR-MRI and MRA is very useful for demonstrating NVC as the cause of TN and HFS. On the other hand, we investigated asymptomatic 206 trigemimal and 253 facial nerves about the relationship between their REZ and the surrounding structures using the similar method. The contact of REZ of cranial nerve with surrounding artery is demonstrated in 31.6% of trigeminal nerves and in 22.5% of facial nerves. These results indicate that the contact of REZ of cranial nerve with surrounding artery is not rare in healthy subjects, though causing TN and HFS in particular patients. In this context, we discussed the difference between the contact which is asymptomatic and the compression which is symptomatic. (author)

  5. Error analysis of a CAD/CAM method for unidirectional mandibular distraction osteogenesis in the treatment of hemifacial microsomia.

    Science.gov (United States)

    Sun, Hao; Li, Biao; Zhao, Zeliang; Zhang, Lei; Shen, Steve G F; Wang, Xudong

    2013-12-01

    Our aim was to investigate the errors in a computer-aided design and manufacture (CAD/CAM) method of unidirectional mandibular distraction osteogenesis. Six patients with hemifacial microsomia were selected, and studied on computed tomographic (CT) scans taken at 3 time intervals: preoperatively, at the end of the latent period, and at the end of consolidation. The plan for mandibular distraction osteogeneisis was designed using CT-based 3-dimensional visible software. The osteotomy line and site of the drill were transferred to a rapid prototyping surgical guide. The osteotomy of the mandible and implantation of the distraction device were completed under guidance. The accuracy of the transferred surgical plan was confirmed by fusion of images after the latency period. The 3-dimensional superimposition of the preoperative simulation, and the postoperative actual models at the end of consolidation, showed that the mean (SD) error between the actual and the predicted height of the ramus was 0.6 (0.6) mm. The error between the actual and predicted intercondylar distance was 8.1 (2.1) mm. There was a significant difference in intercondylar distance between the simulated and actual groups (p=0.00024). The 3-dimensional CT-based planning system described in this paper was transferred precisely from the virtual plan to the real-time operation. The planning system also gave a precise prediction of the height of the ramus after mandibular distraction osteogenesis. However, because of the pull of the lateral pterygoid muscle and pseudarthrosis, the intercondylar distance decreased compared with the predicted value. These influencing factors should be considered when the planning system is refined.

  6. Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

    Science.gov (United States)

    Dentino, K M; Valstar, A; Padwa, B L

    2016-06-01

    The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P.

  7. Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy

    Science.gov (United States)

    ... Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness ... muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of ...

  8. [Infantile spinal atrophy: our experience in the last 25 years].

    Science.gov (United States)

    Madrid Rodríguez, A; Martínez Martínez, P L; Ramos Fernández, J M; Urda Cardona, A; Martínez Antón, J

    2015-03-01

    To determine the incidence of spinal muscular atrophy (SMA) in our study population and genetic distribution and epidemiological and clinical characteristics and to analyze the level of care and development. Retrospective descriptive study of patients treated in our hospital in the past 25 years (from 1987 to early 2013), with a clinical and neurophysiological diagnosis of SMA. A total of 37 patients were found, representing an incidence for our reference population and year of 1 case per 10,000 live births. Males predominated (male/female ratio: 1.6/1). The type of SMA diagnosed more frequently was, type i (26 cases), followed by type ii (9 cases), one case with SMA type iii, and one case of spinal muscular atrophy with respiratory distress type 1 (SMARD1). The most frequent genetic alteration was homozygous deletion of exons 7 and 8 of SMN1 gene in 31 cases, while five patients had atypical genetics. The median survival for type i was 8.0 months and 15.8 years for type ii. The incidence in our population remains stable at around 1/10.000. Most cases presented with, predominantly male, typical genetics. In approximately 1/10 patients the genetic alteration was different from the classical one to the SMN gene. The prevalence of AME unrelated SMN gene was 1/37. The level of care has increased in line with social and welfare demands in recent years. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  9. Grey matter atrophy in patients suffering from multiple sclerosis.

    Science.gov (United States)

    Kincses, Zsigmond Tamás; Tóth, Eszter; Bankó, Nóra; Veréb, Dániel; Szabó, Nikoletta; Csete, Gergő; Faragó, Péter; Király, András; Bencsik, Krisztina; Vécsei, László

    2014-09-30

    White matter lesions are defining characteristics of multiple sclerosis (MS), whereas grey matter involvement is a less recognised attribute. Recent investigations using dedicated imaging approaches have made it possible to depict cortical lesions. Additionally, grey matter atrophy may be estimated using various methods. Several studies have suggested that grey matter atrophy closely correlates to clinical disability. In this review we have collected information on grey matter atrophy in MS and the effect of disease modifying therapies upon brain atrophy.

  10. [Two boys with non-progressive unilateral atrophy of the calf muscles].

    Science.gov (United States)

    Sasaki, Masayuki; Oomi, Tsuyoshi; Segawa, Masami; Komaki, Hirofumi; Sugai, Kenji

    2006-11-01

    We report here two boys who presented with atrophy of the right calf muscle. The onset was insidious and the symptom was found in infancy in case 2. They were followed for more than 5 years and no progression was seen. No sensory disturbances or autonomic nervous system symptoms were observed. Although needle electric myograph and muscle biopsy findings showed a neurogenic pattern, no cause was confirmed. Recently, a new disease concept of "benign monomelic amyotrophy of lower limb" was established and this could be applied to these patients. This disorder is rare and it is seen in young adults. It is characterized by non-progressive unilateral calf muscle atrophy. There is almost no possibility that this disorder is a variant of spinal muscular atrophy. When a patient presents with unilateral calf muscle atrophy, the treatable causes of the atrophy, including spinal cord disorders or peripheral nerve disorders, should be excluded first. If a confirmed cause cannot be found, then there should be a careful follow-up of the patient, even if the symptoms are stable.

  11. Rapidly worsening bulbar symptoms in a patient with spinobulbar muscular atrophy

    Directory of Open Access Journals (Sweden)

    Montserrat Diaz-Abad

    2013-12-01

    Full Text Available X-linked spinobulbar muscular atrophy (Kennedy’s disease affects muscles and motor neurons, manifesting as weakness and wasting of bulbar, facial, and proximal limb muscles due to loss of anterior horn cells in the brain and spinal cord. We present the case of a patient with X-linked spinobulbar muscular atrophy with rapidly worsening bulbar symptoms caused by laryngopharyngeal irritation associated with a viral upper respiratory tract infection, seasonal allergies and laryngopharyngeal reflux, who dramatically improved with multimodality therapy.

  12. Retinal pigment epithelial atrophy following indocyanine green dye-assisted surgery for serous macular detachment

    Directory of Open Access Journals (Sweden)

    Hussain Nazimul

    2008-01-01

    Full Text Available To report subretinal migration of indocyanine green dye (ICG and subsequent retinal pigment epithelial (RPE atrophy during macular surgery for serous macular detachment. A 65-year-old woman presented with residual epiretinal membrane and serous detachment of the macula following vitreoretinal surgery for epiretinal membrane. She underwent resurgery with ICG-assisted internal limiting membrane peeling and intraocular tamponade. Intraoperatively a large area of subretinal ICG was seen with subsequent RPE mottling and atrophy of the macula in the area involved during follow-up. This case demonstrates that subretinal migration of ICG is possible and can be toxic to RPE.

  13. Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

    OpenAIRE

    Bowerman Melissa; Murray Lyndsay M; Boyer Justin G; Anderson Carrie L; Kothary Rashmi

    2012-01-01

    Abstract Background Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. It is caused by mutations/deletions of the survival motor neuron 1 (SMN1) gene and is typified by the loss of spinal cord motor neurons, muscular atrophy, and in severe cases, death. The SMN protein is ubiquitously expressed and various cellular- and tissue-specific functions have been investigated to explain the specific motor neuron loss in SMA. We have previously shown that the RhoA/Rho kinase (...

  14. Three patients with mood disorders showing catatonia and frontotemporal lobes atrophy.

    Science.gov (United States)

    Utumi, Yushi; Iseki, Eizo; Arai, Heii

    2013-12-01

    Here we report the cases of three patients with mood disorders showing catatonia and frontotemporal lobe atrophy. Catatonia is a syndrome linked to frontal dysfunction that most frequently occurs in patients with mood disorders. The diagnostic criteria of catatonia and frontotemporal dementia partly overlap. In the present patients, catatonia might be closely related to frontal dysfunction caused by frontotemporal lobe atrophy. With regard to therapeutics for catatonia, we found that administering a low dose of lorazepam alone or after electroconvulsive therapy may be useful for treating and preventing catatonia. We also found that administering glutaminate antagonists such as memantine may be useful for treating lorazepam-resistant catatonia.

  15. Picture agnosia as a characteristic of posterior cortical atrophy.

    Science.gov (United States)

    Sugimoto, Azusa; Midorikawa, Akira; Koyama, Shinichi; Futamura, Akinori; Hieda, Sotaro; Kawamura, Mitsuru

    2012-01-01

    Posterior cortical atrophy (PCA) is a degenerative disease characterized by progressive visual agnosia with posterior cerebral atrophy. We examine the role of the picture naming test and make a number of suggestions with regard to diagnosing PCA as atypical dementia. We investigated 3 cases of early-stage PCA with 7 control cases of Alzheimer disease (AD). The patients and controls underwent a naming test with real objects and colored photographs of familiar objects. We then compared rates of correct answers. Patients with early-stage PCA showed significant inability to recognize photographs compared to real objects (F = 196.284, p = 0.0000) as measured by analysis of variants. This difficulty was also significant to AD controls (F = 58.717, p = 0.0000). Picture agnosia is a characteristic symptom of early-stage PCA, and the picture naming test is useful for the diagnosis of PCA as atypical dementia at an early stage. Copyright © 2012 S. Karger AG, Basel.

  16. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.

    Science.gov (United States)

    Wolf, Nicole I; Koenig, Michel

    2013-01-01

    The hereditary ataxias with onset in childhood are a group of heterogeneous disorders, usually with autosomal recessive inheritance. In many of them, magnetic resonance imaging (MRI) shows cerebellar atrophy. The most prominent exception to this is Friedreich's ataxia, where MRI shows normal cerebellar volume, but sometimes spinal cord atrophy. In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and ataxia with oculomotor apraxia type I and II. Mitochondrial metabolism is impaired in another group of inherited ataxias including the emergent group of defects in coenzyme Q10 synthesis. Few of these disorders are amenable to effective treatment, the most important of these being vitamin E-responsive ataxia. The autosomal dominant spinocerebellar ataxias are rare in childhood. Some of them, especially SCA7 and SCA2, may begin in childhood or even infancy, family history being positive in these cases. Additional clinical clues such as presence or absence of neuropathy or oculomotor apraxia still help in making a definitive diagnosis albeit there are still many unsolved cases. In pontocerebellar hypoplasia, a neurodegenerative disease with prenatal onset, the genetic basis of the different subtypes has recently been elucidated and involves genes with different functions.

  17. Dysphagia in spinal muscular atrophy type II: more than a bulbar problem?

    NARCIS (Netherlands)

    Engel-Hoek, L. van den; Erasmus, C.E.; Bruggen, H.W. van; Swart, B.J.M. de; Sie, L.T.L.; Steenks, M.H.; Groot, I.J.M. de

    2009-01-01

    OBJECTIVE: In patients with spinal muscular atrophy (SMA) type II, feeding problems and dysphagia are common, but the underlying mechanisms of these problems are not well defined. This case control study was designed to determine the underlying mechanisms of dysphagia in SMA type II. METHODS: Six

  18. Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

    Science.gov (United States)

    Kunte, Hagen; Trendelenburg, George; Matzen, Julia; Ventz, Manfred; Kornak, Uwe; Harms, Lutz

    2010-01-01

    A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected. This is a case report of a triple A syndrome patient with a predominance of neurological features and a new heterozygous compound mutation in triple A syndrome gene.

  19. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

    DEFF Research Database (Denmark)

    Almind, Gitte J; Grønskov, Karen; Milea, Dan;

    2011-01-01

    Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of OPA1 were recently reported...

  20. Redox control of skeletal muscle atrophy.

    Science.gov (United States)

    Powers, Scott K; Morton, Aaron B; Ahn, Bumsoo; Smuder, Ashley J

    2016-09-01

    Skeletal muscles comprise the largest organ system in the body and play an essential role in body movement, breathing, and glucose homeostasis. Skeletal muscle is also an important endocrine organ that contributes to the health of numerous body organs. Therefore, maintaining healthy skeletal muscles is important to support overall health of the body. Prolonged periods of muscle inactivity (e.g., bed rest or limb immobilization) or chronic inflammatory diseases (i.e., cancer, kidney failure, etc.) result in skeletal muscle atrophy. An excessive loss of muscle mass is associated with a poor prognosis in several diseases and significant muscle weakness impairs the quality of life. The skeletal muscle atrophy that occurs in response to inflammatory diseases or prolonged inactivity is often associated with both oxidative and nitrosative stress. In this report, we critically review the experimental evidence that provides support for a causative link between oxidants and muscle atrophy. More specifically, this review will debate the sources of oxidant production in skeletal muscle undergoing atrophy as well as provide a detailed discussion on how reactive oxygen species and reactive nitrogen species modulate the signaling pathways that regulate both protein synthesis and protein breakdown.

  1. Matrix metalloproteinase imbalance in muscle disuse atrophy.

    Science.gov (United States)

    Giannelli, G; De Marzo, A; Marinosci, F; Antonaci, S

    2005-01-01

    Muscle atrophy commonly occurs as a consequence of prolonged muscle inactivity, as observed after cast immobilization, bed rest or space flights. The molecular mechanisms responsible for muscle atrophy are still unknown, but a role has been proposed for altered permeability of the sarcolemma and of the surrounding connective tissue. Matrix metallo-proteinases (MMPs) are a family of enzymes with proteolytic activity toward a number of extracellular matrix (ECM) components; they are inhibited by tissue inhibitors of MMPs (TIMPs). In a rat tail-suspension experimental model, we show that after fourteen days of non-weight bearing there is increased expression of MMP-2 in the atrophic soleus and gastrocnemius and decreased expression of TIMP-2. In the same experimental model the expression of Collagen I and Collagen IV, two main ECM components present in the muscles, was reduced and unevenly distributed in unloaded animals. The difference was more evident in the soleus than in the gastrocnemius muscle. This suggests that muscle disuse induces a proteolytic imbalance, which could be responsible for the breakdown of basal lamina structures such as Collagen I and Collagen IV, and that this leads to an altered permeability with consequent atrophy. In conclusion, an MMP-2/TIMP-2 imbalance could have a role in the mechanism underlying muscle disuse atrophy; more studies are needed to expand our molecular knowledge on this issue and to explore the possibility of targeting the proteolytic imbalance with MMP inhibitors.

  2. Genetics Home Reference: spinal muscular atrophy

    Science.gov (United States)

    ... and abdomen, weakness in the leg muscles, involuntary muscle contractions, tremors, and a protrusion of the abdomen thought to be related to muscle weakness. Some affected individuals experience difficulty swallowing and problems with bladder and ... Frequency Spinal muscular atrophy affects 1 in 6,000 to 1 ...

  3. Optical coherence tomography of macular atrophy associated with microcephaly and presumed intrauterine Zika virus infection

    Directory of Open Access Journals (Sweden)

    Adriana Gondim de Moura Campos

    Full Text Available ABSTRACT This case report describes the retinal optical coherence tomography (OCT findings in a microcephalic infant with macular atrophy presumably caused by intrauterine Zika virus infection. OCT demonstrated atrophy of the outer retinal layers and choriocapillaris, including the outer nuclear layer and ellipsoid zone, associated with retinal pigment epithelium hyper-reflectivity and increased OCT penetration into deeper layers of the choroid and sclera. A major concern associated with this infection is the apparent increased incidence of microcephaly in fetuses born to mothers infected with the Zika virus. It is becoming increasingly difficult to ignore the upsurge in congenital microcephaly observed in Brazil. Recently, ocular findings in infants with microcephaly associated with intrauterine Zika virus infection have been described. This is the first report of OCT imaging of macular atrophy in a child with presumed Zika virus infection-associated microcephaly.

  4. Retinal nerve fiber layer atrophy as relevant feature for diffuse unilateral subacute neuroretinitis (DUSN: case series Atrofia das camadas de fibras nervosas da retina como característica relevante na neurorretinite subaguda difusa unilateral (DUSN: série de casos

    Directory of Open Access Journals (Sweden)

    Antonio Marcelo Barbante Casella

    2010-04-01

    Full Text Available PURPOSE: To report the findings of optical coherence tomography (OCT in three cases of diffuse unilateral subacute neuroretinitis (DUSN. METHODS: Three young patients with confirmed diagnosis of diffuse unilateral subacute neuroretinitis were followed-up using Stratus® OCT. RESULTS: Optical coherence tomography findings included retinal nerve fiber layer atrophy and focal edema where the worm was initially lodged. In two patients we could identify the worm by optical coherence tomography as an area of hiper-reflectivity. The worms were laser photocoagulated and post-treatment optical coherence tomography scanning revealed improvement of edema, nerve fiber layer thinning and a retinal hyper-reflectivity where laser had been applied. CONCLUSION: The main finding reported here is the potential of optical coherence tomography in detecting the presence of retinal nerve fiber layer atrophy and focal retinal edema in areas affected by the worm. Optical coherence tomography can be used to distinguish diffuse unilateral subacute neuroretinitis from other mimicking diseases like punctate outer retinitis, when there are no retinal fiber layer atrophy.OBJETIVO: Demonstrar os achados da tomografia de coerência óptica em três casos de neurorretinite subaguda difusa unilateral (DUSN. MÉTODOS: Os pacientes com diagnóstico confirmado de neurorretinite subaguda difusa unilateral realizaram seguimento pré e pós-tratamento por meio da tomografia de coerência óptica, Stratus® OCT. RESULTADOS: Os achados marcantes da tomografia de coerência óptica foram a atrofia das camadas de fibras nervosas da retina e edema da retina localizado em áreas nas quais a larva esteve. Em dois pacientes pôde-se localizar a larva no espaço sub-retiniano por meio da tomografia de coerência óptica, que se traduziu por pequena área densa (hiperrefletividade. As larvas foram fotocoaguladas a laser e os achados da tomografia de coerência óptica após o tratamento

  5. Relationship between posterior fossa space and hemifacial spasm%后颅窝空间大小与面肌痉挛发生的相关性

    Institute of Scientific and Technical Information of China (English)

    梁韡斌; 毛珂; 韦可聪; 张高炼

    2015-01-01

    Objective To quantitatively study the posterior fossa effective space and its relationship with hemifacial spasm (HFS).Methods We conducted a case-control study of patients diagnosed with HFS and sex-and age-matched healthy controls.All subjects underwent high-resolution three-dimensional MRI.The software of 3D-Slicer was used to measure the posterior fossa space and hindbrain tissue volume between the two groups.Results Sixty patients and 60 controls were enrolled in this study.Compared to controls,patients with HFS had a higher posterior fossa crowdedness index (PFCI;83.7% ± 0.6% vs 79.2% ± 0.4%;t =2.58, P =0.01).The multivariate linear regression analysis revealed that a higher PFCI was associated with younger age (r =-0.61, P =0.02), female gender (r =0.76, P =0.003) and HFS (r =-0.43, P =0.01).Conclusions Patients with HFS have a more crowded posterior fossa space than healthy controls, potentially leading to cranial nerve and vascular structure crowding, thus increasing HFS risk.Women have a higher PFCI, which may explain the strong female preponderance in epidemiologic studies.%目的 定量研究面肌痉挛患者及健康人后颅窝有效空间大小,探索后颅窝容积缩小与面肌痉挛发生之间的相关性.方法 共纳入2013年5月至2014年6月就诊于四川大学华西医院神经外科的60例诊断明确的面肌痉挛患者,60名对照为性别、年龄配对的健康人.两组均行头部三维薄层磁共振检查,利用容积测量软件3 D-slicer分别测量两组后颅窝脑组织和骨性空间大小.结果 面肌痉挛患者组后颅窝拥挤指数为83.7%±0.6%;健康对照组后颅窝拥挤指数为79.2%±0.4%,两组差异有统计学意义(t=2.58,P=0.01).多元线性回归分析提示较高的后颅窝拥挤指数与较小的年龄(r=-0.61,P=0.02)、女性(r=0.76,P=0.003)及面肌痉挛患者(r=-0.43,P=0.01)相关.结论 面肌痉挛患者后颅窝较健康对照组更加拥挤,后颅窝空间狭小可能与"

  6. ["True neurologic thoracic outlet syndrome" -- anatomical features and electrophysiological long-term follow-up of lateral thenar atrophy].

    Science.gov (United States)

    Hug, U; Jung, F J; Guggenheim, M; Wedler, V; Burg, D; Künzi, W

    2006-02-01

    Atrophies of the intrinsic muscles of the hand are considered to be a typical symptom of the "true neurologic" form of thoracic outlet syndrome (TOS). The classical form of this entity was described as early as 1970, consisting of a cervical rib or a prolonged transverse process of C7, complete with a fibrous band to the first thoracic rib, resulting in atrophy of the intrinsic muscles of the hand. All our TOS patients presenting with such atrophy displayed anatomical findings consistent with this definition. Based on this observation, the TOS classification currently in clinical use, which differentiates between "disputed" and "true neurologic" subgroups of the neurologic form, is reviewed. In all cases of "true neurologic TOS" with atrophy of the intrinsic muscles of the hand, the lateral thenar muscles are affected first. We present the electrophysiological long-term results of such thenar atrophies of seven patients with eight operated extremities after brachial plexus decompression. The amplitude of the neurographically measured potential over the opponens pollicis and the abductor pollicis brevis muscle, respectively, was defined as quantitative parameter for muscles atrophy. Neither distinct reinnervation nor progressive denervation was evident in any of the cases after a follow-up period, on average, of more than five years post surgery. These findings are in conflict with clinical observations reporting a major postoperative improvement of the motor deficits.

  7. [Mechanism of cardiac atrophy under weightlessness/simulated weightlessness].

    Science.gov (United States)

    Zhong, Guo-Hui; Ling, Shu-Kuan; Li, Ying-Xian

    2016-04-25

    Cardiac remodeling is the heart's response to external or internal stimuli. Weightlessness/simulated weightlessness leads to cardiac atrophy and heart function declining. Understanding the mechanism of cardiac atrophy under weightlessness is important to help astronaut recover from unloading-induced cardiovascular changes after spaceflight. Unloading-induced changes of hemodynamics, metabolic demands and neurohumoral regulation contribute to cardiac atrophy and function declining. During this process, Ca(2+)-related signaling, NF-κB signaling, ERK signaling, ubiquitin-proteasome pathway and autophagy are involved in weightlessness-induced cardiac atrophy. This article reviews the underlying mechanism of cardiac atrophy under weightlessness/simulated weightlessness.

  8. Periorbital muscle atrophy associated with topical bimatoprost therapy

    Directory of Open Access Journals (Sweden)

    Wang PX

    2014-01-01

    Full Text Available Priscilla Xinhui Wang, Victor Teck Chang Koh, Jin Fong ChengDepartment of Ophthalmology, National University Health System, SingaporeAbstract: Topical Bimatoprost is a common and popular prostaglandin analog used as an ocular hypotensive agent in the treatment of glaucoma. Side effects include ocular hyperaemia, ocular pruritus, and periocular and iris pigmentary changes. Perioribital lipodystrophy is another well-documented outcome associated with chronic use of topical bimatoprost, which results in periorbital hallowing, upper eyelid sulcus deepening, eyelid retraction and enophthalmos. We report an unusual case of periocular muscle atrophy and weakness from unilateral topical bimatoprost use. Our patient had primary angle closure and experienced a right upper eyelid ptosis 2 months after she started to use topical bimatoprost in that eye. Clinical measurements of her eyelids clearly showed reduction in the function of her right levator muscle, suggesting that effects of topical bimatoprost may not be limited to periorbital fat. She was advised to stop topical bimatoprost and right ptosis correction surgery with levator muscle advancement was performed successfully. Ophthalmologists and patients should be aware of this potential rare side effect of topical bimatoprost, as it may be potentially disfiguring, especially with monocular use. However, its exact mechanism of action needs to be clarified further.Keywords: prostaglandin analog, levator, muscle atrophy, muscle weakness, ptosis, side effects

  9. Descompresión microvascular en espasmo hemifacial: Reporte de 13 casos y revisión de la literatura

    Science.gov (United States)

    Campero, Alvaro; Herreros, Isabel Cuervo-Arango; Barrenechea, Ignacio; Andjel, Germán; Ajler, Pablo; Rhoton, Albert

    2016-01-01

    Objetivo: El propósito del presente trabajo es presentar los resultados de 13 pacientes con diagnóstico de espasmo hemifacial (EHF), en los cuales se realizó una descompresión microvascular (DMV). Material y Método: Desde Junio de 2005 a Mayo de 2014, 13 pacientes con diagnóstico de EHF fueron intervenidos quirúrgicamente, realizando una DMV. Se evaluó: edad, sexo, tiempo de evolución de la sintomatología, hallazgos intraoperatorios y resultados postoperatorios. Resultados: De los 13 pacientes intervenidos, 7 fueron mujeres y 6 varones. La media de edad fue de 53 años. El tiempo medio entre el inicio de la sintomatología y la intervención quirúrgica osciló entre 3 y 9 años. En todos los casos el EHF era típico, uno de ellos con neuralgia trigeminal concomitante, observándose en todos compresión neurovascular intraoperatoria. Por orden decreciente de frecuencia la causa de la compresión fue arteria cerebelosa anteroinferior, arteria cerebelosa posteroinferior, arteria dolicomega basilar y arteria dolicomega vertebral. El seguimiento postoperatorio fue en promedio de 24 meses. El 62% presentó desaparición postquirúrgica inmediata de la sintomatología preoperatoria, el 30% desaparición tras un período de 3 semanas a 2 meses (8% con mejoría parcial), y en el 8% no hubo mejoría. En cuanto a las complicaciones postoperatorias: 3 pacientes presentaron paresia facial II-III en la escala de House-Brackman (se recuperaron en un período de 6 meses), y 1 paciente presentó fístula de líquido cefalorraquídeo. Ninguno de los pacientes de la serie presentaron hipoacusia transitorio o permanente. Conclusión: La DMV como tratamiento del EHF es un procedimiento efectivo y seguro, que permite la resolución completa de la patología en la mayoría de los casos. PMID:27127708

  10. The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9

    Directory of Open Access Journals (Sweden)

    Sargan David R

    2007-07-01

    Full Text Available Abstract Background Dogs have the second largest number of genetic diseases, after humans. Among the diseases present in dogs, progressive retinal atrophy has been reported in more than a hundred breeds. In some of them, the mutation has been identified and genetic tests have allowed the identification of carriers, thus enabling a drastic reduction in the incidence of the disease. The Finnish lapphund is a dog breed presenting late-onset progressive retinal atrophy for which the disease locus remains unknown. Results In this study we mapped the progressive retinal atrophy locus in the Finnish lapphund using a DNA pooling approach, assuming that all affected dogs within the breed share the same identical-by descent-mutation as the cause of the disease (genetic homogeneity. Autosomal recessive inheritance was also assumed, after ruling out, from pedigree analysis, dominant and X-linked inheritance. DNA from 12 Finnish lapphund cases was mixed in one pool, and DNA from 12 first-degree relatives of these cases was mixed to serve as the control pool. The 2 pools were tested with 133 microsatellite markers, 3 of which showed a shift towards homozygosity in the cases. Individual genotyping with these 3 markers confirmed homozygosity for the GALK1 microsatellite only (chromosome 9. Further individual genotyping with additional samples (4 cases and 59 controls confirmed the association between this marker and the disease locus (p Conclusion The locus for progressive rod-cone degeneration is known to be close to the GALK1 locus, on the telomeric region of chromosome 9, where the retinal atrophy locus of the Finnish lapphund has been mapped. This suggests that the disease in this breed, as well as in the Swedish lapphund, may correspond to progressive rod-cone degeneration. This would increase the number of known dog breeds having this particular form of progressive retinal atrophy.

  11. Update on alternative therapies for vulvovaginal atrophy

    Directory of Open Access Journals (Sweden)

    Chollet J

    2011-10-01

    Full Text Available Janet A Chollet1,2 1Beth Israel Deaconess Medical Center, Boston, 2Pear Tree Pharmaceuticals, Waltham, MA, USA Abstract: Although systemic absorption of estrogen with local treatment for vulvovaginal atrophy (VVA is most likely to be negligible, it is unknown whether this minimal absorption will affect outcomes in women with breast cancer. Use of adjuvant therapy with aromatase inhibitors for breast cancer is associated with high incidence of VVA symptoms. Because of the impact of moderate to severe VVA symptoms on the quality of life in breast cancer survivors, there has been an intense search for alternative therapies. Further, the publicity that followed the publication of data from the Women’s Health Initiative Study has led to the suggestion by the medical community to use the lowest dose therapy possible for minimal time duration in order to avoid risks. This article will highlight the progress in alternative therapies for VVA. Keywords: vulvovaginal atrophy, hormone therapy, alternative therapy

  12. Research progress of posterior cortical atrophy

    Directory of Open Access Journals (Sweden)

    Li-jun PENG

    2016-06-01

    Full Text Available Posterior cotical atrophy (PCA is a kind of progressive dementia with main clinical manifestations of visual dysfunction as the starting symptom and associated with progressive cognitive disorder. The histopathology and imaging of PCA show visual dysfunction, neuritic plaques (NPs and neurofibrillary tangles (NFTs, which are the same as those in Alzheimer's disease (AD. Researches also showed that mutation of presenilin-1 (PS-1 gene and apolipoprotein E (ApoE genotype may participate in the occurrence and development of PCA. Parieto-occipital lobe atrophy, hypoperfusion and/or glucose metabolism reduction in the right posterior cerebrum can be seen in PCA. Cholinesterase inhibitors (ChEIs may improve the symptoms and postpone the progression of illness. No unified diagnostic criteria will reduce the comparability between different studies. Reasonable usage of the diagnostic criteria of PCA will be helpful in classifying and differentiating this disease. DOI: 10.3969/j.issn.1672-6731.2016.06.011

  13. Multiple system atrophy and cognitive dysfunction

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    Sen-yang LANG

    2016-06-01

    Full Text Available As the survival of patients with multiple system atrophy (MSA is prolonged, patients may present cognitive dysfunction or even dementia in addition to autonomic dysfunction, damage of extrapyramidal system and cerebellar ataxia. This article made a brief summary on the research progress of MSA combined with cognitive dysfunction reported at home and abroad. DOI: 10.3969/j.issn.1672-6731.2016.06.003

  14. Sensorimotor gating deficits in multiple system atrophy

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Biernat, Heidi Bryde; Nikolic, Miki

    2014-01-01

    Prepulse inhibition (PPI) of the auditory blink reflex is a measure of sensorimotor gating, which reflects an organism's ability to filter out irrelevant sensory information. PPI has never been studied in patients with multiple system atrophy (MSA), although sensorimotor deficits are frequently...... associated with synucleinopathies. We investigated whether alterations in PPI were more pronounced in MSA compared with Parkinson's disease (PD), idiopathic rapid eye movement sleep behavior disorder (iRBD) and healthy controls....

  15. Coeliac disease: more than villous atrophy.

    Science.gov (United States)

    Wahab, Peter J; Meijer, Jos W R; Dumitra, Daniela; Goerres, Marije S; Mulder, Chris J J

    2002-06-01

    A continuing flow of new scientific developments concerning coeliac disease in the last decade asks for the formulation of a new concept of pathophysiology and clinical approach of the coeliac condition. Immunogenetic studies have shown a correlation of the disease to the HLA region on the short arm of chromosome 6. Immunological research has led to the concept of a T-cell driven immunologic response of the small intestine, with the identification of highly sensitive and specific antibodies, and in addition the understanding of the histopathology of coeliac disease has changed dramatically, initiated by the proposition of a spectrum of gluten sensitive enteropathy by Marsh in 1992. Clinical studies report a significant change in patient characteristics and epidemiology. The incidence of the disease has shifted to a majority of adult coeliacs and the disease may present with less severe symptoms of malabsorption while screening studies suggest an overall prevalence of up to 1 in 200-300. In the present paper (an update on histopathology) we specifically describe the work of our group in Arnhem, concerning the identification and validation of the spectrum of intestinal histopathology in gluten sensitive enteropathy, i.e. lymphocytic enteritis (Marsh I lesion), lymphocytic enteritis with crypthyperplasia (Marsh II lesion), and villous atrophy, subdivided in partial villous atrophy (Marsh IIIA), subtotal villous atrophy (Marsh IIIB) and total villous atrophy (Marsh IIIC). Special attention is given to a subgroup of "refractory coeliacs", including the identification of (pre-) malignant aberrant T-cells in the intestinal mucosa of these patients. The new data on immunogenetics, epidemiology, histo-pathology and patient characteristics point to a significant change of views on coeliac disease.

  16. Proximal spinal muscular atrophy: current orthopedic perspective

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    Haaker G

    2013-11-01

    Full Text Available Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach. Keywords: spinal muscular atrophy, scoliosis, contractures, fractures, lung function, treatment, rehabilitation, surgery, ventilation, nutrition, perioperative management

  17. Space travel directly induces skeletal muscle atrophy

    Science.gov (United States)

    Vandenburgh, H.; Chromiak, J.; Shansky, J.; Del Tatto, M.; Lemaire, J.

    1999-01-01

    Space travel causes rapid and pronounced skeletal muscle wasting in humans that reduces their long-term flight capabilities. To develop effective countermeasures, the basis of this atrophy needs to be better understood. Space travel may cause muscle atrophy indirectly by altering circulating levels of factors such as growth hormone, glucocorticoids, and anabolic steroids and/or by a direct effect on the muscle fibers themselves. To determine whether skeletal muscle cells are directly affected by space travel, tissue-cultured avian skeletal muscle cells were tissue engineered into bioartificial muscles and flown in perfusion bioreactors for 9 to 10 days aboard the Space Transportation System (STS, i.e., Space Shuttle). Significant muscle fiber atrophy occurred due to a decrease in protein synthesis rates without alterations in protein degradation. Return of the muscle cells to Earth stimulated protein synthesis rates of both muscle-specific and extracellular matrix proteins relative to ground controls. These results show for the first time that skeletal muscle fibers are directly responsive to space travel and should be a target for countermeasure development.

  18. Cellular and molecular mechanisms of muscle atrophy

    Science.gov (United States)

    Bonaldo, Paolo; Sandri, Marco

    2013-01-01

    Skeletal muscle is a plastic organ that is maintained by multiple pathways regulating cell and protein turnover. During muscle atrophy, proteolytic systems are activated, and contractile proteins and organelles are removed, resulting in the shrinkage of muscle fibers. Excessive loss of muscle mass is associated with poor prognosis in several diseases, including myopathies and muscular dystrophies, as well as in systemic disorders such as cancer, diabetes, sepsis and heart failure. Muscle loss also occurs during aging. In this paper, we review the key mechanisms that regulate the turnover of contractile proteins and organelles in muscle tissue, and discuss how impairments in these mechanisms can contribute to muscle atrophy. We also discuss how protein synthesis and degradation are coordinately regulated by signaling pathways that are influenced by mechanical stress, physical activity, and the availability of nutrients and growth factors. Understanding how these pathways regulate muscle mass will provide new therapeutic targets for the prevention and treatment of muscle atrophy in metabolic and neuromuscular diseases. PMID:23268536

  19. Space travel directly induces skeletal muscle atrophy

    Science.gov (United States)

    Vandenburgh, H.; Chromiak, J.; Shansky, J.; Del Tatto, M.; Lemaire, J.

    1999-01-01

    Space travel causes rapid and pronounced skeletal muscle wasting in humans that reduces their long-term flight capabilities. To develop effective countermeasures, the basis of this atrophy needs to be better understood. Space travel may cause muscle atrophy indirectly by altering circulating levels of factors such as growth hormone, glucocorticoids, and anabolic steroids and/or by a direct effect on the muscle fibers themselves. To determine whether skeletal muscle cells are directly affected by space travel, tissue-cultured avian skeletal muscle cells were tissue engineered into bioartificial muscles and flown in perfusion bioreactors for 9 to 10 days aboard the Space Transportation System (STS, i.e., Space Shuttle). Significant muscle fiber atrophy occurred due to a decrease in protein synthesis rates without alterations in protein degradation. Return of the muscle cells to Earth stimulated protein synthesis rates of both muscle-specific and extracellular matrix proteins relative to ground controls. These results show for the first time that skeletal muscle fibers are directly responsive to space travel and should be a target for countermeasure development.

  20. Cellular and molecular mechanisms of muscle atrophy

    Directory of Open Access Journals (Sweden)

    Paolo Bonaldo

    2013-01-01

    Full Text Available Skeletal muscle is a plastic organ that is maintained by multiple pathways regulating cell and protein turnover. During muscle atrophy, proteolytic systems are activated, and contractile proteins and organelles are removed, resulting in the shrinkage of muscle fibers. Excessive loss of muscle mass is associated with poor prognosis in several diseases, including myopathies and muscular dystrophies, as well as in systemic disorders such as cancer, diabetes, sepsis and heart failure. Muscle loss also occurs during aging. In this paper, we review the key mechanisms that regulate the turnover of contractile proteins and organelles in muscle tissue, and discuss how impairments in these mechanisms can contribute to muscle atrophy. We also discuss how protein synthesis and degradation are coordinately regulated by signaling pathways that are influenced by mechanical stress, physical activity, and the availability of nutrients and growth factors. Understanding how these pathways regulate muscle mass will provide new therapeutic targets for the prevention and treatment of muscle atrophy in metabolic and neuromuscular diseases.

  1. Etiology and clinical profile of childhood optic nerve atrophy at a tertiary eye care center in South India

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    Supriya Chinta

    2014-01-01

    Full Text Available Background: Optic nerve atrophy is an important ophthalmological sign that may be associated with serious systemic conditions having a significant bearing on the overall morbidity of the child. Studies specific to etiology of childhood optic atrophy are scarce, this being the first such study from India to the best of our knowledge. Aim: The aim was to analyze the clinical features and etiology of diagnosed cases of optic nerve atrophy in children <16 years of age. Materials and Methods: Retrospective review of records of children diagnosed with optic nerve atrophy between the ages of 0 and 16 years from 2006 to 2011. Results: A total of 324 children (583 eyes were identified. Among these 160 (49% presented with defective vision, 71 (22% with strabismus, 18 (6% with only nystagmus. Rest had a combination of two or three of the above symptoms. Sixty-five patients (20% had a unilateral affection. Hypoxic ischemic encephalopathy seen in 133 patients (41% was the most frequent cause of childhood optic atrophy, followed by idiopathic in 98 (30%, hydrocephalus in 24 (7%, compressive etiology in 18 (5%, infective in 19 (6%, congenital in 6 (2%, inflammatory in 5 (2% patients, respectively. Conclusion: Hypoxic ischemic encephalopathy appears to be the most common cause of optic atrophy in children in this series. The most common presenting complaint was defective vision.

  2. Will Preoperative Atrophy and Fatty Degeneration of the Shoulder Muscles Improve after Rotator Cuff Repair in Patients with Massive Rotator Cuff Tears?

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    Hiroshi Yamaguchi

    2012-01-01

    Full Text Available Recently, retear rate after repair for massive cuff tear have been improved through devised suture techniques. However, reported retear rate is relevant to preoperative atrophy and fatty degeneration. The purpose of this study was to investigate whether preoperative atrophy and fatty degeneration of rotator cuff muscles improve by successful repair. Twenty-four patients with massive rotator cuff tear were evaluated on the recovery of atrophy and fatty degeneration of supraspinatus and infraspinatus muscle after surgery. Atrophy was classified by the occupation ratio and fatty degeneration by modified Goutallier's classification. Both were assessed on magnetic resonance imaging (MRI before and after the operation. When the cuff was well repaired, improvement of the atrophy and fatty degeneration were observed in a half and a one-fourth of the cases, respectively. In retear cases, however, atrophy and fatty degeneration became worse. Improvement of atrophy and fatty degeneration of the rotator cuff muscles may be expected in the cases with successful achievement of rotator cuff repair for large and massive tear.

  3. 胺碘酮联合肉毒素A治疗面肌痉挛的临床疗效观察%Clinical efficacy of amiodarone combined with botulinum toxin A in hemifacial spasm

    Institute of Scientific and Technical Information of China (English)

    冯建钦; 张鹏飞

    2016-01-01

    Objective To observe the clinical efficacy of amiodarone combined with botulinum toxin A in the treatment of hemifacial spasm.Methods Sixty-five patients with hemifacial spasm were randomly divided into amiodarone(n=33)and control(n=32)group.In the amiodarone group,oral amiodarone and local intramuscular injection of botulinum toxin A were administered.In the control group,only local intramuscular injections of botulinum toxin A was performed.The clinical efficacy was evaluated according to the Cohen rating on the 1st,4th,16th,32nd week.Results The Cohen rating in amiodarone group was significantly better than control group on 4th,16th,32nd week(P<0.05).The complete remission in amiodarone group was significantly higher than control group on 4th,16th,32nd week(75.8% vs.43.8%,81.8% vs.12.5%,81.8% vs.6.2%,all P <0.05).The total effective rate in amiodarone group was significantly higher than control group on 16th,32nd week(97.0%vs.75.0%,93.9% vs.65.6%,all P<0.05). There was one case of recurrence in control group on 4th week,while there was no recurrence in amiodarone group.The recurrence in control group on 16th,32nd week was higher than amiodarone group(56.3 % vs.0.0 %,65.6% vs.12.1%,all P<0.05).There was no signigicant difference in adverse reactions between amiodarone group and control group(24.2%vs.18.8%).Conclusion Combination of amiodarone and botulinum toxin A is more effective than botulinum toxin A alone in the treatment of hemifacial spasm.%目的:探讨胺碘酮( amiodarone)与肉毒素A( botulinum toxin A)联合治疗面肌痉挛的临床疗效。方法65例面肌痉挛患者,随机分为胺碘酮组(33例,胺碘酮联合肉毒素A治疗)和对照组(32例,单纯肉毒素A治疗)。2组治疗前及治疗1、4、16、32周时依据Cohen痉挛强度分级标准进行功能分级及疗效判定。结果治疗4、16、32周时,胺碘酮组Cohen分级明显优于对照组( P<0.05)。治疗4、16和32周时,胺碘酮组的完

  4. Real-time Monitoring of the Lateral Spread Response Resulting from Serial Decompression for Hemifacial Spasm Caused by a Fusiform Aneurysm.

    Science.gov (United States)

    Lee, Sung Ho; Choi, Seok Keun; Kim, Johnho

    2015-07-01

    Fusiform aneurysm as a cause of hemifacial spasm (HFS) is an extremely rare condition. A 69-year-old man developed paroxysmal spasm of his left side facial muscles over a period of 5 years. Radiologic images demonstrated a left vertebral artery (VA) fusiform aneurysm compressing the root entry zone of the left facial nerve. The patient underwent serial surgical procedures for the treatment of HFS under intraoperative electromyography monitoring. Lateral spread response (LSR) did not disappear despite 5 minutes of extracranial left VA ligation and remained after cerebrospinal fluid drainage after dura opening. After interposition of the VA through Teflon felt insertion, the LSR finally disappeared. The patient became symptom free immediately after the surgery and continued as such throughout a follow-up period of 1 year. This is the first report involving real-time monitoring of the LSR changes resulting from serial procedures of decompression in an HFS caused by a fusiform aneurysm of the VA.

  5. A Patient With PHACE Syndrome With Marked Ipsilateral Cerebral Atrophy

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    Nan-Koong Wang

    2010-04-01

    Full Text Available The association of posterior fossa malformation, facial cavernous hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects and eye abnormalities (PHACE syndrome represents a rare congenital anomaly with a broad spectrum of clinical manifestations and female predominance. We herein report on a girl who manifested the typical clinical features of PHACE syndrome, unusually associated with severe ipsilateral cerebral atrophy and hemiplegia. She received surgical aortoplasty, local steroid injection and laser therapy for the hemangioma, and intense physical therapy soon after diagnosis. The etiology of PHACE syndrome remains unclear, and its clinical spectrum is broad. The current case suggests that the spectrum of PHACE syndrome should be further expanded to include other forms of cerebral disorder.

  6. Unusual association of sporadic olivopontocerebellar atrophy and motor neuron disease.

    Science.gov (United States)

    Testa, D; Tiranti, V; Girotti, F

    2002-12-01

    Sporadic olivopontocerebellar atrophy (OPCA) is a neurodegenerative disorder that presents a wide clinical spectrum. Motor neuron disease (MND) is characterized by a selective degeneration of motor neurons. A 60-year-old man developed slurred speech and unsteadiness of gait. He had also noticed difficulty in holding his head upright and shoulder weakness. The disease had a rapid progression. At the age of 63 years, magnetic resonance imaging supported a diagnosis of OPCA, and a diagnosis of MND was suggested by clinical and electrophysiological findings. He also had upward gaze palsy. A muscular biopsy showed sporadic ragged red and Cox deficient fibers. The present case could define a unique disorder, as the occasional occurrence of two degenerative disorders appears unlikely.

  7. Alexander disease with mild dorsal brainstem atrophy and infantile spasms.

    Science.gov (United States)

    Torisu, Hiroyuki; Yoshikawa, Yoko; Yamaguchi-Takada, Yui; Yano, Tamami; Sanefuji, Masafumi; Ishizaki, Yoshito; Sawaishi, Yukio; Hara, Toshiro

    2013-05-01

    We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8 months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease.

  8. Strategies for treating scoliosis in children with spinal muscular atrophy.

    Science.gov (United States)

    Tobert, Daniel G; Vitale, Michael G

    2013-11-01

    Progressive pulmonary dysfunction is a major complication of spinal muscular atrophy (SMA). Growing constructs are a well-established alternative to spinal arthrodesis to maximize pulmonary growth. We describe patients who demonstrated sustained pulmonary function and improved quality of life following hybrid growing construct implantation. The purpose of this article is to demonstrate a range of approaches for managing scoliosis in children with SMA by utilizing vertical expandable prosthetic titanium rib implantation or growing rods with lateral rib fixation to improve clinical and patient-reported outcomes. Pulmonary compromise and quality of life decline are leading concerns in the SMA population. This case series highlights important surgical strategies that can be utilized to treat scoliosis in patients with SMA.

  9. Prelaminated extended temporoparietal fascia flap without tissue expansion for hemifacial reconstruction.

    Science.gov (United States)

    Altındaş, Muzaffer; Arslan, Hakan; Bingöl, Uğur Anıl; Demiröz, Anıl

    2017-10-01

    Disfigurement of the face caused by postburn scars, resected congenital nevi and vascular malformations has both functional and psychological consequences. Ideal reconstruction of the facial components requires producing not only function but also the better appearance of the face. The skin of the neck, supraclavicular or cervicothoracic regions are the most commonly used and the most likely source of skin for facial reconstruction in those techniques which prefabrications with tissue expansion are used. This retrospective cohort study describes the two staged prelaminated temporoparietal fascia flap which eliminates the usage of tissue expansion by using skin graft harvested from the neck and occipital region and the application of this flap for the lower three-fourths of the face. 5 patients received prelaminated temporoparietal fascia flap without tissue expansion for facial resurfacing. The mean age at surgery was 39, 2 years (range, 17-60 years). The average follow up was 21.6 months (range, 10-48 months). The size of the raised prelaminated temporoparietal fascia flaps ranged from 9 × 8 cm to 14 × 10 cm. All flaps survived after second stage. Varied degrees of venous congestion were observed after flap insets in all cases but none required any further treatment for the congestion. The entire lesion could not be resected due to the large size of the lesion in all patients. Two stage prelaminated temporoparietal fascia flap with skin graft is an effective technique for the reconstruction of partial facial defects in selected patients. It is simple, quick, safe and reliable, and requires no expansion of skin or no microsurgery. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  10. Network structure of brain atrophy in de novo Parkinson's disease.

    Science.gov (United States)

    Zeighami, Yashar; Ulla, Miguel; Iturria-Medina, Yasser; Dadar, Mahsa; Zhang, Yu; Larcher, Kevin Michel-Herve; Fonov, Vladimir; Evans, Alan C; Collins, D Louis; Dagher, Alain

    2015-09-07

    We mapped the distribution of atrophy in Parkinson's disease (PD) using magnetic resonance imaging (MRI) and clinical data from 232 PD patients and 117 controls from the Parkinson's Progression Markers Initiative. Deformation-based morphometry and independent component analysis identified PD-specific atrophy in the midbrain, basal ganglia, basal forebrain, medial temporal lobe, and discrete cortical regions. The degree of atrophy reflected clinical measures of disease severity. The spatial pattern of atrophy demonstrated overlap with intrinsic networks present in healthy brain, as derived from functional MRI. Moreover, the degree of atrophy in each brain region reflected its functional and anatomical proximity to a presumed disease epicenter in the substantia nigra, compatible with a trans-neuronal spread of the disease. These results support a network-spread mechanism in PD. Finally, the atrophy pattern in PD was also seen in healthy aging, where it also correlated with the loss of striatal dopaminergic innervation.

  11. OCT Minimum Intensity as a Predictor of Geographic Atrophy Enlargement

    Science.gov (United States)

    Stetson, Paul F.; Yehoshua, Zohar; Garcia Filho, Carlos Alexandre A.; Portella Nunes, Renata; Gregori, Giovanni; Rosenfeld, Philip J.

    2014-01-01

    Purpose. We determined whether the minimum intensity (MI) of the optical coherence tomography (OCT) A-scans within the retina can predict locations of growth at the margin of geographic atrophy (GA) and the growth rate outside the margin. Methods. The OCT scans were analyzed at baseline and 52 weeks. Expert graders manually segmented OCT images of GA. The 52-week follow-up scans were registered to the baseline scan coordinates for comparison. The OCT MI values were studied within a 180-μm margin around the boundary of GA at baseline. Baseline MI values were compared in areas of progression and nonprogression of the GA, and sensitivity and specificity were assessed for prediction of growth at the margin. Average MI values in the margins were compared to overall growth rates to evaluate the prediction of growth outside the margins. Results. A statistically significant increase in MI (P < 0.05) was seen in areas of growth in 21/24 cases (88%), and 22/24 cases (92%) when the foveal subfield was excluded. Locations of growth within the margins at 52 weeks were predicted with 61% sensitivity and 61% specificity. The MI values correlated significantly with overall growth rate, and high and low growth rate subjects were identified with 80% sensitivity and 64% specificity. Conclusions. The MI may be increased at the margins of GA lesions before enlargement, which may indicate disruption or atrophy of the photoreceptors in these areas before GA becomes apparent. Increased MI may help predict areas of enlargement of GA, and may relate to overall growth rate and be a useful screening tool for GA. (ClinicalTrials.gov number, NCT00935883.) PMID:24408973

  12. Progressive transcortical sensory aphasia and progressive ideational apraxia owing to temporoparietal cortical atrophy.

    Science.gov (United States)

    Funayama, Michitaka; Nakajima, Asuka

    2015-11-11

    In contrast to frontotemporal lobar degeneration, atrophy of the focal posterior lateral cortex has not been thoroughly studied. Three clinical types of focal cortical atrophy have been described: 1) logopenic variant of primary progressive aphasia, which presents with impaired repetition despite normal articulation; 2) posterior cortical atrophy, which presents with prominent visuospatial deficits; and 3) primary progressive apraxia. All three clinical types are characterized by specific patterns of hypometabolism/hypoperfusion: the left posterior perisylvian area in the logopenic variant of primary progressive aphasia, bilateral parietooccipital areas in posterior cortical atrophy, and the parietal cortex in primary progressive apraxia. However, not every patient clearly fits into one of these categories. Here we describe two patients with atypical focal cortical presentations. They presented with a history of a few years of progressive transcortical sensory aphasia characterized by fluent output with normal grammar and syntax, normal repetition, sentence comprehension deficits, and anomia without loss of word meaning. They also presented with progressive apraxia that began at the initial stages. Some forms of posterior symptoms including acalculia, agraphia, and visuospatial deficits were also observed. Hypoperfusion was noted mainly in the left temporoparietal region, which is slightly posterior to the perisylvian area. Although our cases lack in CSF findings and PIB scan, these two cases and previous reports might suggest the existence of a subgroup of patients presenting with transcortical sensory aphasia, apraxia, and posterior symptoms (acalculia, agraphia, and visuospatial deficits) in the setting of Alzheimer's disease. This subgroup may reflect the spectrum of clinical manifestations between logopenic variant of primary progressive aphasia and posterior cortical atrophy.

  13. A quantitative evaluation of pontine atrophy by MR imaging in patients with spinocerebellar degeneration

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    Takeda, Hirotomo; Tsukamoto, Hiroshi; Kawaguchi, Hiroshi [St. Marianna Univ., Kawasaki, Kanagawa (Japan). School of Medicine

    2000-04-01

    The purpose of this study is to evaluate if pontine measurement on MR images is capable of diagnosing spinocerebellar degeneration (SCD). The study population consists of 68 cases with SCD (34 males and 34 females with a mean age of 57.8 years ranging from 28 to 82 years) and 240 controls (120 males and 120 females with a mean age of 49.3 years ranging from 20 to 78 years). Patients with SCD were classified into three groups. Type I includes 23 cases with olivopontocerebellar atrophy (OPCA), 7 with spinocerebellar ataxia 2 (SCA2), one with SCA3, 3 with multiple system atrophy (MSA), and one with dentate-rubro-pallido-luysian atrophy (DRPLA) (total of 35 cases). Type II consists of 12 cases with late cortical cerebellar atrophy (LCCA) and 3 with SCA6 (total of 15 cases). The last group includes 18 cases with unclassified SCD. The pontine index was calculated using the following equation; transverse distance between bilateral trigeminal nerve root x AP distance of the pons between the pontine basilar sulcus and the median sulcus of the fourth ventricle. Measurement was performed at the level of the trigeminal nerve root on axial T1-weighted images. Pontine indexes were 699{+-}77.19 for the controls and 455{+-}134.23 for SCD groups (pERROR [Basic syntax error] in: <0ERROR [Basic syntax error] in:.0001; t-test). For SCD patients the pontine indexes were significantly Small for Type I in contrast to Type II (pERROR [Basic syntax error] in:<0ERROR [Basic syntax error] in:.001; t-test). Sensitivity of the Pontine indexes for SCD was 70.6% with a cutoff value of 540 (mean-2SD of controls). In agreement with the findings of the study it is proposed that the pontine index may be useful in diagnosis of SCD and OPCA in particular. (author)

  14. Avaliação fonoaudiológica na atrofia de múltiplos sistemas: estudo com cinco pacientes Multiple system atrophy speech assessment: study of five cases

    Directory of Open Access Journals (Sweden)

    Denise Botelho Knopp

    2002-09-01

    Full Text Available A atrofia de múltiplos sistemas (AMS é caracterizada pela presença de sinais parkinsonianos, cerebelares, autonômicos e piramidais, em várias combinações. O aparecimento de disartria e disfagia no primeiro ano de manifestação de parkinsonismo, sugere o diagnóstico de AMS. O objetivo deste estudo foi o de caracterizar do ponto de vista fonoaudiológico os distúrbios da fala e da voz dos pacientes com AMS. Foram selecionados cinco pacientes, com idade média de 51,2 anos e com diagnóstico provável de AMS. Cada paciente foi submetido a avaliação neurológica e fonoaudiológica. Esta última foi composta dos seguintes itens: anamnese; avaliação miofuncional e avaliação perceptivo-auditiva da fala. Os sintomas de fala e voz apareceram 1,1 ano após o início dos sintomas motores e a disartrofonia apresentada por todos os pacientes foi a do tipo mista, mesclando os componentes hipocinético, atáxico e espástico, com predomínio do primeiro. Nossos achados são diferentes daqueles comumente vistos em pacientes com a doença de Parkinson, onde o componente hipocinético é o único achado. Os dados levantados indicam que a avaliação fonoaudiológica é importante no diagnóstico diferencial e no planejamento terapêutico da AMS.Multiple system atrophy (MSA is characterized by parkinsonian, cerebellar and pyramidal features along with autonomic dysfunction in different combinations. Onset of dysarthria during the first year of the manifestation of a parkinsonian syndrome suggests the diagnosis of MSA. The aim of this study was to characterize the voice and the speech of patients with MSA. We studied five MSA patients with a mean age of 51.2 years. Each patient was submitted to a neurological and a specific speech and voice assessment. The latter consisted of the following: clinical interview, myofunctional examination, and perceptual speech evaluation. Speech and voice complaints occurred at an average time of 1.1 year after the

  15. Parry-Romberg (Syndrome)

    Science.gov (United States)

    ... progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is ... progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is ...

  16. Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy

    Directory of Open Access Journals (Sweden)

    Sibel Doguizi

    2015-01-01

    Full Text Available Introduction. Gyrate atrophy is a rare genetical metabolic disorder affecting vision. Here, we report a 9-year-old boy with gyrate atrophy associated with bilateral macular edema at the time of diagnosis and the effect of long term metabolic control on macular edema. Case Presentation. A 9-year-old boy presented with a complaint of low visual acuity (best corrected visual acuity: 20/80 in both eyes, refractive error: −12.00 D. Dilated fundus examination revealed multiple bilateral, sharply defined, and scalloped chorioretinal atrophy areas in the midperipheral and peripheral zone. Spectral-domain optical coherence tomography revealed bilateral cystoid macular edema in both eyes. Serum ornithine level was high (622 μmol/L. An arginine-restricted diet reduced serum ornithine level (55 μmol/L. However, visual findings including macular edema remained unchanged in 2 years of follow-up. Conclusion. Arginine-restricted diet did not improve macular edema in our patient with gyrate atrophy. A more comprehensive understanding of the underlying factors for macular edema will lead to the development of effective therapies.

  17. Optic atrophy differentially diagnosed as spinocerebellar ataxia from Leber hereditary optic neuropathy by gene mutation analysis.

    Science.gov (United States)

    Song, Y P; Chen, Z S; Mo, G Y; Ding, Q; Zhu, L; Yan, M

    2012-01-01

    Optic atrophy describes a group of diseases of retinal ganglion cells and axons that eventually lead to loss of vision. Optic atrophy has both congenital and acquired causes, and its diagnosis (or differential diagnosis) is complicated. This case report describes a 20-year-old man who presented with a 1-year history of progressive vision loss in both eyes and no obvious systemic symptoms. Fundus examination revealed bilateral optic atrophy. Based on clinical characteristics, visual field analysis and pattern visual evoked potential examination, the presumptive diagnosis was Leber hereditary optic neuropathy (LHON). Analysis of mitochondrial DNA indicated the absence of all of three common mutations associated with LHON (m.3460G>A, m.11778G>A, m.14484T>C). Detailed questioning of the patient revealed a history of prolonged language development and poor balance. Neurological examination indicated abnormal co-ordination, suggesting the presence of inherited spinocerebellar ataxia (SCA). Analysis of the SCA7 gene revealed a high number of trinucleotide repeats [(CAG)(n), n > 64], confirming the diagnosis of SCA. The aetiology of optic atrophies is complicated and the molecular genetic detection approach provides the best information for diagnosing these diseases.

  18. Circulating micrornas as potential biomarkers of muscle atrophy

    Science.gov (United States)

    Wang, Fei

    2016-07-01

    Noninvasive biomarkers with diagnostic value and prognostic applications have long been desired to replace muscle biopsy for muscle atrophy patients. Growing evidence indicates that circulating microRNAs are biomarkers to assess pathophysiological status. Here, we show that the medium levels of six muscle-specific miRNAs (miR-1/23a/206/133/499/208b, also known as myomiRs) were all elevated in the medium of starved C2C12 cell (P atrophy patients, indicating that they might represent the degree of muscle atrophy. Collectively, our data indicated that circulating myomiRs could serve as promising biomarkers for muscle atrophy.

  19. Acceleration of hippocampal atrophy rates in asymptomatic amyloidosis.

    Science.gov (United States)

    Andrews, K Abigail; Frost, Chris; Modat, Marc; Cardoso, M Jorge; Rowe, Chris C; Villemagne, Victor; Fox, Nick C; Ourselin, Sebastien; Schott, Jonathan M

    2016-03-01

    Increased rates of brain atrophy measured from serial magnetic resonance imaging precede symptom onset in Alzheimer's disease and may be useful outcome measures for prodromal clinical trials. Appropriate trial design requires a detailed understanding of the relationships between β-amyloid load and accumulation, and rate of brain change at this stage of the disease. Fifty-two healthy individuals (72.3 ± 6.9 years) from Australian Imaging, Biomarkers and Lifestyle Study of Aging had serial (0, 18 m, 36 m) magnetic resonance imaging, (0, 18 m) Pittsburgh compound B positron emission tomography, and clinical assessments. We calculated rates of whole brain and hippocampal atrophy, ventricular enlargement, amyloid accumulation, and cognitive decline. Over 3 years, rates of whole brain atrophy (p atrophy (p = 0.001, p = 0.023), and ventricular expansion (p atrophy rates were also independently associated with β-amyloid accumulation over the first 18 months (p = 0.003). Acceleration of left hippocampal atrophy rate was associated with baseline β-amyloid load across the cohort (p atrophy are associated with both baseline β-amyloid load and accumulation, and that there is presymptomatic, amyloid-mediated acceleration of hippocampal atrophy. Clinical trials using rate of hippocampal atrophy as an outcome measure should not assume linear decline in the presymptomatic phase.

  20. The Impact of Gastric Atrophy on the Incidence of Diabetes

    Science.gov (United States)

    Yu, Tse-Ya; Wei, Jung-Nan; Kuo, Chun-Heng; Liou, Jyh-Ming; Lin, Mao-Shin; Shih, Shyang-Rong; Hua, Cyue-Huei; Hsein, Yenh-Chen; Hsu, Ya-Wen; Chuang, Lee-Ming; Lee, Mei-Kuei; Hsiao, Ching-Hsiang; Wu, Ming-Shiang; Li, Hung-Yuan

    2017-01-01

    Gastric atrophy results in lower plasma ghrelin, higher gastrin secretion, a change in gut microbiota, and altered dietary nutrient absorption, which may be associated with the incidence of diabetes. Helicobacter pylori (H. pylori) infection is a major cause of gastric atrophy and is associated with diabetes in some reports. Since there is no study which investigates the impact of gastric atrophy on diabetes, we conduct a prospective cohort study to examine the relationship between H. pylori infection, gastric atrophy, and incident diabetes. In this study, subjects with gastric atrophy had a lower risk of incident diabetes, compared to those without gastric atrophy. The extent of gastric atrophy, measured by serum pepsinogen (PG) I/II ratio, was correlated with age, H. pylori IgG titer, HOMA2-IR, and HOMA2%B. When gastric atrophy is more extensive, presented as a lower serum PG I/II ratio, the risk of incident diabetes is lower. On the other hand, there was no significant association between H. pylori infection and the incidence of diabetes. In conclusion, the presence and the extent of gastric atrophy, but not H. pylori infection, are associated with incident diabetes. Further studies are needed to investigate the detailed mechanisms and the potential applications of the findings to guide diabetes screening and treatment strategies. PMID:28045079

  1. Application of EMG monitoring to microvascular decompression for hemifacial spasm%肌电图监测在面肌痉挛微血管减压术中的应用

    Institute of Scientific and Technical Information of China (English)

    黄进; 吴祥奎; 张岩松; 邵君飞

    2016-01-01

    目的:探讨面肌肌电图监测在面肌痉挛微血管减压术(MVD)中的应用价值。方法回顾性分析MVD治疗的72例面肌痉挛患者的临床资料,术中仔细辨别并处理责任血管,通过实时记录面肌的肌电反应了解减压效果。结果60例有明确责任血管压迫,6例单纯性蛛网膜粘连或增厚,6例存在隐匿性责任血管。术后异常肌电图波形完全消失54例,基本消失16例,无明显变化2例。术后临床症状完全消失57例,部分消失14例,无改善1例;总有效率为98.6%(71/72)。结论面肌肌电图监测可实时了解术中减压效果,对面肌痉挛的MVD,尤其是隐匿性责任血管所致面肌痉挛具有重要的指导作用。%Objective To explore the applied value of intraoperative electromyography (EMG) monitoring to microvascular decompression for hemifacial spasm. Methods The clinical data of 72 patients with hemifacial spasm, who underwent microvascular decompression under intraoperative EMG monitoring, were analyzed retrospectively. The real-time recording of EMG response of facial muscles was performed by the needle electrode put into the ipsilateral orbicularis oculi muscle, orbicularis oris muscle and masseter. Intraoperative careful identification and treatment of vessels responsible for hemifacial spasm in order to understand the effect of decompression and objectively evaluate the prognoses of the patients. Results The blood vessels responsible for the hemifacial spasm were definitely determined in 60 patients. The arachnoid adhesion or thickening was found in 6 patients. The occult blood vessels probably were the vessels responsible for the hemifacial spasm in 6 patients. The abnormal EMG waveforms completely disappeared in 54 patients, almost disappeared in 16 and were unchanged in 2 after the decompression. The clinical symptoms disappeared completely in 57 patients, partly in 14 and were unchanged in 1 after the decompression. The

  2. CLADA: cortical longitudinal atrophy detection algorithm.

    Science.gov (United States)

    Nakamura, Kunio; Fox, Robert; Fisher, Elizabeth

    2011-01-01

    Measurement of changes in brain cortical thickness is useful for the assessment of regional gray matter atrophy in neurodegenerative conditions. A new longitudinal method, called CLADA (cortical longitudinal atrophy detection algorithm), has been developed for the measurement of changes in cortical thickness in magnetic resonance images (MRI) acquired over time. CLADA creates a subject-specific cortical model which is longitudinally deformed to match images from individual time points. The algorithm was designed to work reliably for lower resolution images, such as the MRIs with 1×1×5 mm(3) voxels previously acquired for many clinical trials in multiple sclerosis (MS). CLADA was evaluated to determine reproducibility, accuracy, and sensitivity. Scan-rescan variability was 0.45% for images with 1mm(3) isotropic voxels and 0.77% for images with 1×1×5 mm(3) voxels. The mean absolute accuracy error was 0.43 mm, as determined by comparison of CLADA measurements to cortical thickness measured directly in post-mortem tissue. CLADA's sensitivity for correctly detecting at least 0.1mm change was 86% in a simulation study. A comparison to FreeSurfer showed good agreement (Pearson correlation=0.73 for global mean thickness). CLADA was also applied to MRIs acquired over 18 months in secondary progressive MS patients who were imaged at two different resolutions. Cortical thinning was detected in this group in both the lower and higher resolution images. CLADA detected a higher rate of cortical thinning in MS patients compared to healthy controls over 2 years. These results show that CLADA can be used for reliable measurement of cortical atrophy in longitudinal studies, even in lower resolution images.

  3. Sensory disturbances of buccal and lingual nerve by muscle compression: a case report and review of the literature

    OpenAIRE

    Alvira González, Joaquín; Gay Escoda, Cosme

    2016-01-01

    Introduction Several studies on cadavers dissection have shown that collateral branches of the trigeminal nerve cross muscle bundles on their way, being a possible etiological factor of some nerve disturbances. Case Report A 45-year-old man attended to the Temporomandibular Joint and Orofacial Pain Unit of the Master of Oral Surgery and Implantology in Hospital Odontològic of Barcelona University, referring tingling in the left hemifacial región and ipsilateral lingual side for one year, with...

  4. Cardiac atrophy after bed rest and spaceflight

    Science.gov (United States)

    Perhonen, M. A.; Franco, F.; Lane, L. D.; Buckey, J. C.; Blomqvist, C. G.; Zerwekh, J. E.; Peshock, R. M.; Weatherall, P. T.; Levine, B. D.

    2001-01-01

    Cardiac muscle adapts well to changes in loading conditions. For example, left ventricular (LV) hypertrophy may be induced physiologically (via exercise training) or pathologically (via hypertension or valvular heart disease). If hypertension is treated, LV hypertrophy regresses, suggesting a sensitivity to LV work. However, whether physical inactivity in nonathletic populations causes adaptive changes in LV mass or even frank atrophy is not clear. We exposed previously sedentary men to 6 (n = 5) and 12 (n = 3) wk of horizontal bed rest. LV and right ventricular (RV) mass and end-diastolic volume were measured using cine magnetic resonance imaging (MRI) at 2, 6, and 12 wk of bed rest; five healthy men were also studied before and after at least 6 wk of routine daily activities as controls. In addition, four astronauts were exposed to the complete elimination of hydrostatic gradients during a spaceflight of 10 days. During bed rest, LV mass decreased by 8.0 +/- 2.2% (P = 0.005) after 6 wk with an additional atrophy of 7.6 +/- 2.3% in the subjects who remained in bed for 12 wk; there was no change in LV mass for the control subjects (153.0 +/- 12.2 vs. 153.4 +/- 12.1 g, P = 0.81). Mean wall thickness decreased (4 +/- 2.5%, P = 0.01) after 6 wk of bed rest associated with the decrease in LV mass, suggesting a physiological remodeling with respect to altered load. LV end-diastolic volume decreased by 14 +/- 1.7% (P = 0.002) after 2 wk of bed rest and changed minimally thereafter. After 6 wk of bed rest, RV free wall mass decreased by 10 +/- 2.7% (P = 0.06) and RV end-diastolic volume by 16 +/- 7.9% (P = 0.06). After spaceflight, LV mass decreased by 12 +/- 6.9% (P = 0.07). In conclusion, cardiac atrophy occurs during prolonged (6 wk) horizontal bed rest and may also occur after short-term spaceflight. We suggest that cardiac atrophy is due to a physiological adaptation to reduced myocardial load and work in real or simulated microgravity and demonstrates the plasticity

  5. Cardiac atrophy after bed rest and spaceflight

    Science.gov (United States)

    Perhonen, M. A.; Franco, F.; Lane, L. D.; Buckey, J. C.; Blomqvist, C. G.; Zerwekh, J. E.; Peshock, R. M.; Weatherall, P. T.; Levine, B. D.

    2001-01-01

    Cardiac muscle adapts well to changes in loading conditions. For example, left ventricular (LV) hypertrophy may be induced physiologically (via exercise training) or pathologically (via hypertension or valvular heart disease). If hypertension is treated, LV hypertrophy regresses, suggesting a sensitivity to LV work. However, whether physical inactivity in nonathletic populations causes adaptive changes in LV mass or even frank atrophy is not clear. We exposed previously sedentary men to 6 (n = 5) and 12 (n = 3) wk of horizontal bed rest. LV and right ventricular (RV) mass and end-diastolic volume were measured using cine magnetic resonance imaging (MRI) at 2, 6, and 12 wk of bed rest; five healthy men were also studied before and after at least 6 wk of routine daily activities as controls. In addition, four astronauts were exposed to the complete elimination of hydrostatic gradients during a spaceflight of 10 days. During bed rest, LV mass decreased by 8.0 +/- 2.2% (P = 0.005) after 6 wk with an additional atrophy of 7.6 +/- 2.3% in the subjects who remained in bed for 12 wk; there was no change in LV mass for the control subjects (153.0 +/- 12.2 vs. 153.4 +/- 12.1 g, P = 0.81). Mean wall thickness decreased (4 +/- 2.5%, P = 0.01) after 6 wk of bed rest associated with the decrease in LV mass, suggesting a physiological remodeling with respect to altered load. LV end-diastolic volume decreased by 14 +/- 1.7% (P = 0.002) after 2 wk of bed rest and changed minimally thereafter. After 6 wk of bed rest, RV free wall mass decreased by 10 +/- 2.7% (P = 0.06) and RV end-diastolic volume by 16 +/- 7.9% (P = 0.06). After spaceflight, LV mass decreased by 12 +/- 6.9% (P = 0.07). In conclusion, cardiac atrophy occurs during prolonged (6 wk) horizontal bed rest and may also occur after short-term spaceflight. We suggest that cardiac atrophy is due to a physiological adaptation to reduced myocardial load and work in real or simulated microgravity and demonstrates the plasticity

  6. Bilateral linear scleroderma "en coup de sabre" associated with facial atrophy and neurological complications

    Directory of Open Access Journals (Sweden)

    Altmeyer Peter

    2001-12-01

    Full Text Available Abstract Background Linear scleroderma "en coup de sabre" (LSCS usually affects one side of the face and head in the frontoparietal area with band-like indurated skin lesions. The disease may be associated with facial hemiatrophy. Various ophthalmological and neurological abnormalities have been observed in patients with LSCS. We describe an unusual case of LSC. Case presentation A 23 year old woman presented bilateral LSCS and facial atrophy. The patient had epileptic seizures as well as oculomotor and facial nerve palsy on the left side which also had pronounced skin involvement. Clinical features of different stages of the disease are presented. Conclusions The findings of the presented patient with bilateral LSCS and facial atrophy provide further evidence for a neurological etiology of the disease and may also indicate that classic progressive facial hemiatrophy (Parry-Romberg syndrome and LSCS actually represent different spectra of the same disease.

  7. Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.

    Science.gov (United States)

    Tashiro, Yuichi; Yamazaki, Tsuneo; Nagamine, Shun; Mizuno, Yuji; Yoshiki, Adachi; Okamoto, Koichi

    2014-01-01

    We herein describe a case of a 38-year-old man with familial hemiplegic migraine with a T666M mutation in the electrical potential-dependent calcium ion channel (CACNA1A) gene. His migraine was accompanied by hemiparesis and impaired consciousness. Brain magnetic resonance imaging revealed abnormalities in the right cortical hemisphere. Single-photon emission computed tomography demonstrated a decrease in iomazenil uptake and an increase in (99m)Tc-ethyl cysteinate dimer uptake at the ipsilateral site. Positron emission tomography showed a decrease in 18F-fluorodeoxyglucose uptake in the same area, which later showed atrophic changes. The patient's brain atrophy ceased after treatment with sodium valproate. This case suggests that the progression of brain atrophy can be prevented with adequate prophylaxis.

  8. Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

    Science.gov (United States)

    Castro-Gago, Manuel; Dacruz-Alvarez, David; Pintos-Martínez, Elena; Beiras-Iglesias, Andrés; Arenas, Joaquín; Martín, Miguel Ángel; Martínez-Azorín, Francisco

    2016-01-01

    Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more intense at lower limb muscles, mildly elevated creatine kinase (CK), serum aspartate transaminase (AST) and lactate. Electromyography (EMG) showed neurogenic potentials in the proximal muscles. Histological studies of a muscle biopsy showed neurogenic atrophy with enlarged mitochondria in the periphery of the fibers, and complex I deficiency. Finally, genetic analysis showed the presence of a homozygous mutation in the gene for choline kinase beta (CHKB: NM_005198.4:c.810T>A, p.Tyr270(∗)). We describe here the second Spanish patient whit mutation in CHKB gene, who despite having the same mutation, presented an atypical aspect: congenital neurogenic muscular atrophy progressing to a combined neuropathic and myopathic phenotype (mixed pattern).

  9. Oats induced villous atrophy in coeliac disease

    Science.gov (United States)

    Lundin, K E A; Nilsen, E M; Scott, H G; Løberg, E M; Gjøen, A; Bratlie, J; Skar, V; Mendez, E; Løvik, A; Kett, K

    2003-01-01

    The current trend is to allow coeliac disease (CD) patients to introduce oats to their gluten free diet. We sought further data from the clinical setting with regards to oats consumption by coeliac patients. Several oat products were tested for wheat contamination using a commercial enzyme linked immunoassay (ELISA) kit, and six samples were examined by an ELISA using a cocktail of monoclonal antibodies, mass spectrometry, and western blot analysis. Nineteen adult CD patients on a gluten free diet were challenged with 50 g of oats per day for 12 weeks. Serological testing and gastroduodenoscopy was performed before and after the challenge. Biopsies were scored histologically and levels of mRNA specific for interferon γ were determined by reverse transcription-polymerase chain reaction analysis. Oats were well tolerated by most patients but several reported initial abdominal discomfort and bloating. One of the patients developed partial villous atrophy and a rash during the first oats challenge. She subsequently improved on an oats free diet but developed subtotal villous atrophy and dramatic dermatitis during a second challenge. Five of the patients showed positive levels of interferon γ mRNA after challenge. Some concerns therefore remain with respect to the safety of oats for coeliacs. PMID:14570737

  10. Geographic atrophy: Etiopathogenesis and current therapies.

    Science.gov (United States)

    Sastre-Ibáñez, M; Barreiro-González, A; Gallego-Pinazo, R; Dolz-Marco, R; García-Armendariz, B

    2017-09-05

    Geographic atrophy is characterized by severe visual deficit whose etiology and pathophysiology are yet to be elucidated. As a working hypothesis, oxidative damage could trigger a chronic inflammation in Bruch's membrane-RPE-choriocapillaris complex, mostly due to complement pathway overactivation. Some individuals with mutations in the complement system and other factors have diminished capacity in the modulation of the inflammatory response, which results in cell damage and waste accumulation. This accumulation of intracellular and extracellular waste products manifests as drusen and pigmentary changes that precede the atrophy of photoreceptors, RPE, choriocapillaris with an ischemic process with decreased choroid flow. All these processes can be detected as tomographic findings and autofluorescence signals that are useful in the evaluation of patients with atrophic AMD, which helps to establish an individualized prognosis. Anti-inflammatory, antioxidant and therapies that decrease the accumulation of toxins for the preservation of the RPE cells and photoreceptors are being investigated in order to slow down the progression of this disease. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Effects of muscle atrophy on motor control

    Science.gov (United States)

    Stuart, D. G.

    1985-01-01

    As a biological tissue, muscle adapts to the demands of usage. One traditional way of assessing the extent of this adaptation has been to examine the effects of an altered-activity protocol on the physiological properties of muscles. However, in order to accurately interpret the changes associated with an activity pattern, it is necessary to employ an appropriate control model. A substantial literature exists which reports altered-use effects by comparing experimental observations with those from animals raised in small laboratory cages. Some evidence suggests that small-cage-reared animals actually represent a model of reduced use. For example, laboratory animals subjected to limited physical activity have shown resistance to insulin-induced glucose uptake which can be altered by exercise training. This project concerned itself with the basic mechanisms underlying muscle atrophy. Specifically, the project addressed the issue of the appropriateness of rats raised in conventional-sized cages as experimental models to examine this phenomenon. The project hypothesis was that rats raised in small cages are inappropriate models for the study of muscle atrophy. The experimental protocol involved: 1) raising two populations of rats, one group in conventional (small)-sized cages and the other group in a much larger (133x) cage, from weanling age (21 days) through to young adulthood (125 days); 2) comparison of size- and force-related characteristics of selected test muscles in an acute terminal paradigm.

  12. Is the subcallosal medial prefrontal cortex a common site of atrophy in Alzheimer’s disease and frontotemporal lobar degeneration?

    Directory of Open Access Journals (Sweden)

    Olof eLindberg

    2012-11-01

    Full Text Available Regions affected late in neurodegenerative disease are thought to be anatomically connected to regions affected earlier. The subcallosal medial prefrontal cortex (SMPC has connections with the dorsolateral prefrontal cortex (DLPFC, orbitofrontal cortex (OFC and hippocampus (HC, which are regions that may become atrophic in frontotemporal lobar degeneration (FTLD and Alzheimer’s disease (AD. We hypothesized that the SMPC is a common site of frontal atrophy in the FTLD subtypes and in AD. The volume of the SMPC, DLPFC, OFC, HC and entorhinal cortex were manually delineated for 12 subjects with frontotemporal dementia (FTD, 13 with semantic dementia (SD, 9 with progressive nonfluent aphasia (PNFA, 10 AD cases and 13 controls. Results revealed significant volume loss in the left SMPC in FTD, SD and PNFA, while the right SMPC was also atrophied in SD and FTD. In AD a non significant tendency of volume loss in the left SMPC was found (p=0.08, with no volume loss on the right side. Results indicated that volume loss reflected the degree of brain connectivity. In SD and AD temporal regions displayed most atrophy. Among the frontal regions, the SMPC (which receives the strongest temporal projections demonstrated most volume loss, the OFC (which receives less temporal projections less volume loss, while the DLPFC (which is at multisynaptic distance from the temporal regions demonstrated no volume loss. In PNFA, the left SMPC was atrophic, possibly reflecting progression from the left anterior insula, while FTD patients may have had SMPC atrophy at the initial stages of the disease. Atrophy of the SMPC may thus be affected by either initial temporal or initial frontal atrophy, making it a common site of frontal atrophy in the dementia subtypes investigated.

  13. Association of White Matter Lesions, Cerebral Atrophy, Intracranial Extravascular Calcifications, and Ventricular-Communicating Hydrocephalus with Delirium Among Veterans.

    Science.gov (United States)

    Detweiler, Mark B; Sherigar, Rathnakara M; Bader, Geoffrey; Sullivan, Kelly; Kenneth, Arline; Kalafat, Naciye; Reddy, Pavan; Lutgens, Brian

    2017-06-01

    The literature regarding the underlying neuropathogenesis of delirium on head computed tomography (CT) is limited. The aim of this research was to investigate, using case-control retrospective chart review, the association of white matter lesions (WML), cerebral atrophy, intracranial extravascular calcifications, and ventricular-communicating hydrocephalus in older adult military veterans with and without delirium hospitalized in a Veterans Affairs Medical Center. Head CT scans were examined for WML, atrophy, and intracranial extravascular calcifications globally in the cortex, subcortex (frontal, temporal, parietal, occipital lobes), basal ganglia (globus pallidus, caudate, putamen), and internal capsule, in addition to the presence of ventricular-communicating hydrocephalus. WML were graded as not present, 2 cm. Atrophy, cerebral atrophy, intracranial extravascular calcifications, and ventricular-communicating hydrocephalus were graded as present or not present. There was a significant association of WML in the temporal lobe periventricular cortical and subcortical brain and a significant association of atrophy in the parietal lobes and the cerebellum in hospitalized older adult military veterans with delirium compared with hospitalized older adult military veterans without delirium. There were no differences between the delirium and nondelirium groups for intracranial extravascular calcifications and ventricular-communicating hydrocephalus. The results suggest that atrophy in the parietal lobes and the cerebellum of hospitalized older adult military veterans may be associated with an elevated risk of delirium when compared with age, race, and sex-matched control veterans. Continuing efforts are needed to clarify the role of atrophy during delirium in the veteran and nonveteran older adult population to reduce progressive frailty and decreased quality of life secondary to hospital and posthospital-discharge delirium.

  14. [STUDY EFFECT OF ASSOSIATED PATHOLOGY ON THE DEVELOPMENT OF OPTIC NERVE ATROPHY].

    Science.gov (United States)

    Vasyuta, V A

    2015-01-01

    Studied effect of assosiated pathology on the development of optic nerve atrophy (ONA). The basis of population study was comparison some factors in the groups with ONA and without ONA (analysis case-control) and evaluation of relative risk. Analysis showed that the risk of development of ONA increased in coronary heart disease, hypertension, diabetes, atherosclerosis. A functional-organizational model of care for patients with ONA was proposed.

  15. Anetodermia y otras atrofias circunscriptas de la piel Anetoderma and localized atrophies of the skin

    Directory of Open Access Journals (Sweden)

    RE Achenbach

    Full Text Available Efectuamos una revisión de las denominadas atrofias circunscriptas de la piel, con énfasis en la anetodermia y la atrofodermia; ilustramos algunos casos vividos en los últimos años.A review of the localized atrophies of the skin, focusing in the anetodermia and atrophoderma are made. Some of the cases from our Department of Dermatology are pictured.

  16. Corpus callosum atrophy in patients with mild Alzheimer's disease

    DEFF Research Database (Denmark)

    Frederiksen, Kristian Steen; Garde, Ellen; Skimminge, Arnold

    2011-01-01

    Several studies have found atrophy of the corpus callosum (CC) in patients with Alzheimer's disease (AD). However, it remains unclear whether callosal atrophy is already present in the early stages of AD, and to what extent it may be associated with other structural changes in the brain......, such as age-related white matter changes (ARWMC) and progression of the disease....

  17. Cerebral atrophy after acute traumatic subdural orextradural hematomas in adults

    Institute of Scientific and Technical Information of China (English)

    冯海龙; 谭海斌; 黄光富; 廖晓灵

    2002-01-01

    @@ Cerebral atrophy is one of the serious sequelae ofsevere head injury. 1 Neuropathologicalinvestigation has revealed that cerebral atrophy iscaused by either diffuse axonal injury or cerebralhypoxia and ischemia. Secondary ipsilateral cerebralatrophy caused by acute subdural hematomas in infantshas been reported recently, but this unilateral cerebralatrophy after head injury in adult patients has rarelybeen reported.

  18. Multifocal motor neuropathy and progressive atrophy : Pathophysiological similarities and differences

    NARCIS (Netherlands)

    Vlam, L.

    2015-01-01

    Progressive muscular atrophy (PMA) and multifocal motor neuropathy (MMN) share many clinical similarities. They are both characterized by progressive asymmetric muscle weakness with atrophy and fasciculations. Tendon reflexes are normally low or absent, although in some patients with MMN normal or e

  19. Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy

    Science.gov (United States)

    Aicua, Irene; Verhagen, Okker; Arenaza, Naroa; Cubo, Esther

    2014-01-01

    Background X-linked spinal and bulbar muscular atrophy (SBMA) is a rare adult-onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation is exceedingly rare. Our aim was to describe/document the characteristic signs of tremor in spinal and bulbar muscular atrophy. Case Report We report a case of a 58-year-old male with a positive family history of tremor. On examination, the patient had jaw and hand tremors but he also exhibited gynecomastia, progressive bulbar paresis, and wasting and weakness primarily in the proximal limb muscles. The laboratory tests revealed an elevated creatine phosphokinase. Genetic testing was positive for X-SBMA, with 42 CAG repeats. Discussion Essential tremor is one of the most common movement disorders, yet it is important for clinicians to be aware of the presence of other distinguishing features that point to alternative diagnoses. The presence of action tremor associated with muscle atrophy and gynecomastia should lead to a suspicion of SBMA. PMID:25374767

  20. Automated analysis of whole skeletal muscle for muscular atrophy detection of ALS in whole-body CT images: preliminary study

    Science.gov (United States)

    Kamiya, Naoki; Ieda, Kosuke; Zhou, Xiangrong; Yamada, Megumi; Kato, Hiroki; Muramatsu, Chisako; Hara, Takeshi; Miyoshi, Toshiharu; Inuzuka, Takashi; Matsuo, Masayuki; Fujita, Hiroshi

    2017-03-01

    Amyotrophic lateral sclerosis (ALS) causes functional disorders such as difficulty in breathing and swallowing through the atrophy of voluntary muscles. ALS in its early stages is difficult to diagnose because of the difficulty in differentiating it from other muscular diseases. In addition, image inspection methods for aggressive diagnosis for ALS have not yet been established. The purpose of this study is to develop an automatic analysis system of the whole skeletal muscle to support the early differential diagnosis of ALS using whole-body CT images. In this study, the muscular atrophy parts including ALS patients are automatically identified by recognizing and segmenting whole skeletal muscle in the preliminary steps. First, the skeleton is identified by its gray value information. Second, the initial area of the body cavity is recognized by the deformation of the thoracic cavity based on the anatomical segmented skeleton. Third, the abdominal cavity boundary is recognized using ABM for precisely recognizing the body cavity. The body cavity is precisely recognized by non-rigid registration method based on the reference points of the abdominal cavity boundary. Fourth, the whole skeletal muscle is recognized by excluding the skeleton, the body cavity, and the subcutaneous fat. Additionally, the areas of muscular atrophy including ALS patients are automatically identified by comparison of the muscle mass. The experiments were carried out for ten cases with abnormality in the skeletal muscle. Global recognition and segmentation of the whole skeletal muscle were well realized in eight cases. Moreover, the areas of muscular atrophy including ALS patients were well identified in the lower limbs. As a result, this study indicated the basic technology to detect the muscle atrophy including ALS. In the future, it will be necessary to consider methods to differentiate other kinds of muscular atrophy as well as the clinical application of this detection method for early ALS

  1. Bone and muscle atrophy with suspension of the rat

    Science.gov (United States)

    Leblanc, A.; Marsh, C.; Evans, H.; Johnson, P.; Schneider, V.; Jhingran, S.

    1985-01-01

    In order to identify a suitable model for the study of muscle atrophy due to suspension in space, a modified version of the Morey tail suspension model was used to measure the atrophic responses of rat bone and muscle to 14-30 days of unloading of the hindlimbs. The progress of atrophy was measured by increases in methylene diphosphonate (MDP) uptake. It is found that bone uptake of methylene diphosphonate followed a phasic pattern similar to changes in the bone formation rate of immobilized dogs and cats. Increased MDP uptake after a period of 60 days indicated an accelerated bone metabolism. Maximum muscle atrophy in the suspended rats was distinctly different from immobilization atrophy. On the basis of the experimental results, it is concluded that the tail suspension model is an adequate simulation of bone atrophy due to suspension.

  2. Centrifugal intensity and duration as countermeasures to soleus muscle atrophy

    Science.gov (United States)

    D'Aunno, Dominick S.; Thomason, Donald B.; Booth, Frank W.

    1990-01-01

    The effects of artificially induced gravity on the atrophy process of slow-twitch soleus muscle are studied in order to determine whether centrifugation could be an effective countermeasure to nonweight bearing at 1 G. It is observed that the soleus muscle atrophied 32 percent during seven days of nonweight bearing without countermeasures, and centrifugation treatment did not completely prevent atrophy relative to precontrol wet weight of the soleus muscle. Nonweight-bearing groups receiving treatments of 1, 1.5, or 2.6 G had 48, 56, and 65 percent, respectively, of the atrophy observed in a nonweight-bearing-only group compared with the precontrol group. It is concluded that, as a countermeasure to nonweight-bearing-induced atrophy of the soleus muscle, centrifugation at 2.6 G is no more effective than exposure to 1 or 1.5 G.

  3. Bone and muscle atrophy with suspension of the rat

    Science.gov (United States)

    Leblanc, A.; Marsh, C.; Evans, H.; Johnson, P.; Schneider, V.; Jhingran, S.

    1985-01-01

    In order to identify a suitable model for the study of muscle atrophy due to suspension in space, a modified version of the Morey tail suspension model was used to measure the atrophic responses of rat bone and muscle to 14-30 days of unloading of the hindlimbs. The progress of atrophy was measured by increases in methylene diphosphonate (MDP) uptake. It is found that bone uptake of methylene diphosphonate followed a phasic pattern similar to changes in the bone formation rate of immobilized dogs and cats. Increased MDP uptake after a period of 60 days indicated an accelerated bone metabolism. Maximum muscle atrophy in the suspended rats was distinctly different from immobilization atrophy. On the basis of the experimental results, it is concluded that the tail suspension model is an adequate simulation of bone atrophy due to suspension.

  4. Indices of Regional Brain Atrophy: Formulae and Nomenclature

    Science.gov (United States)

    Arias-Carrión, Oscar

    2015-01-01

    The pattern of brain atrophy helps to discriminate normal age-related changes from neurodegenerative diseases. Albeit indices of regional brain atrophy have proven to be a parameter useful in the early diagnosis and differential diagnosis of some neurodegenerative diseases, indices of absolute regional atrophy still have some important limitations. We propose using indices of relative atrophy for representing how the volume of a given region of interest (ROI) changes over time in comparison to changes in global brain measures over the same time. A second problem in morphometric studies is terminology. There is a lack of systematization naming indices and the same measure can be named with different terms by different research groups or imaging softwares. This limits the understanding and discussion of studies. In this technological report, we provide a general description on how to compute indices of absolute and relative regional brain atrophy and propose a standardized nomenclature. PMID:26261753

  5. Neuro-cognitive mechanisms of simultanagnosia in patients with posterior cortical atrophy.

    Science.gov (United States)

    Neitzel, Julia; Ortner, Marion; Haupt, Marleen; Redel, Petra; Grimmer, Timo; Yakushev, Igor; Drzezga, Alexander; Bublak, Peter; Preul, Christoph; Sorg, Christian; Finke, Kathrin

    2016-12-01

    Posterior cortical atrophy is dominated by progressive degradation of parieto-occipital grey and white matter, and represents in most cases a variant of Alzheimer's disease. Patients with posterior cortical atrophy are characterized by increasing higher visual and visuo-spatial impairments. In particular, a key symptom of posterior cortical atrophy is simultanagnosia i.e. the inability to perceive multiple visual objects at the same time. Two neuro-cognitive mechanisms have been suggested to underlie simultanagnosia, either reduced visual short-term memory capacity or decreased visual processing speed possibly resulting from white matter impairments over and above damage to cortical brain areas. To test these distinct hypotheses, we investigated a group of 12 patients suffering from posterior cortical atrophy with homogenous lesion sides in parieto-occipital cortices and varying severity of grey and white matter loss. More specifically, we (i) tested whether impaired short-term memory capacity or processing speed underlie symptoms of simultanagnosia; (ii) assessed the link to grey and white matter damage; and (iii) integrated those findings into a neuro-cognitive model of simultanagnosia in patients with posterior cortical atrophy. To this end, simultaneous perception of multiple visual objects was tested in patients with posterior cortical atrophy mostly with positive Alzheimer's disease biomarkers and healthy age-matched controls. Critical outcome measures were identification of overlapping relative to non-overlapping figures and visuo-spatial performance in tests sensitive to simultanagnosia. Using whole report of briefly presented letter arrays based on the mathematically formulated 'Theory of Visual Attention', we furthermore quantified parameters of visual short-term memory capacity and visual processing speed. Grey and white matter atrophy was assessed by voxel-based morphometry analyses of structural magnetic resonance data. All patients showed severe

  6. Hypospadias as a novel feature in spinal bulbar muscle atrophy.

    Science.gov (United States)

    Nordenvall, Anna Skarin; Paucar, Martin; Almqvist, Catarina; Nordenström, Anna; Frisén, Louise; Nordenskjöld, Agneta

    2016-04-01

    Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene. The SBMA phenotype consists of slowly progressive neuromuscular symptoms and undermasculinization features as the result of malfunction of the AR. The latter mainly includes gynecomastia and infertility. Hypospadias is also a feature of undermasculinization with an underdeveloped urethra and penis; it has not been described as part of the SBMA phenotype but has been suggested to be associated with a prolonged CAG repeat in the AR gene. This study includes the first epidemiologic description of the co-occurrence of hypospadias and SBMA in subjects and their male relatives in Swedish population-based health registers, as well as an additional clinical case. One boy with severe hypospadias was screened for mutations in the AR gene and was found to have 42 CAG repeats in it, which is in the full range of mutations causing SBMA later in life. We also detected a maximum of four cases displaying the combination of SBMA and hypospadias in our national register databases. This is the third case report with hypospadias in association with CAG repeat expansions in the AR gene in the full range known to cause SBMA later in life. Our findings suggest that hypospadias may be an under diagnosed feature of the SBMA phenotype and we propose that neurologists working with SBMA further investigate and report the true prevalence of hypospadias among patients with SBMA.

  7. Dental implants for severely atrophied jaws due to ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Preetha Balaji

    2015-01-01

    Full Text Available The aim was to present the successful esthetical and functional rehabilitation of partial anodontia in a case of severe ectodermal dysplasia with complete atrophy of the jaws. A 17-year-old male with Class III malocclusion with partial anodontia sought dental implant treatment. His expectation was that of Class I occlusion. The challenge in the case was to match the expectation, reality, and the clinical possibilities. Ridge augmentation was performed with a combination of rib graft and recombinant human bone morphogenetic protein-2. Simultaneously, 6 implants (Nobel Biocare™ - Tapered Groovy were placed in maxillary arch and 10 in the mandible. Simultaneous placement ensured faster and better osseointegration though a mild compromise of the primary stability was observed initially. After adequate healing, Customized Zirconia Procera™ system was used to build the framework. Zirconia crown was cemented to the framework. Radiological and clinical evidence of osseointegration was observed in all 16 dental implants. Successful conversion of Class III to Class I occlusion was achieved with the combination of preprosthetic alveolar ridge augmentation, Procera™ Implant Bridge system. Abnormal angulations and or placement of dental implants would result in failure of the implant. Hence conversion of Class III to Class I occlusion needs complete and complex treatment planning so that the entire masticatory apparatus is sufficiently remodeled. Planning should consider the resultant vectors that would otherwise result in failure of framework or compromise the secondary stability of the dental implant during function. A successful case of rehabilitation of complex partial anodontia is presented.

  8. Cardiac atrophy in women following bed rest.

    Science.gov (United States)

    Dorfman, Todd A; Levine, Benjamin D; Tillery, Tommy; Peshock, Ronald M; Hastings, Jeff L; Schneider, Suzanne M; Macias, Brandon R; Biolo, Gianni; Hargens, Alan R

    2007-07-01

    Both chronic microgravity exposure and long-duration bed rest induce cardiac atrophy, which leads to reduced standing stroke volume and orthostatic intolerance. However, despite the fact that women appear to be more susceptible to postspaceflight presyncope and orthostatic hypotension than male astronauts, most previous high-resolution studies of cardiac morphology following microgravity have been performed only in men. Because female athletes have less physiological hypertrophy than male athletes, we reasoned that they also might have altered physiological cardiac atrophy after bed rest. Magnetic resonance imaging was performed in 24 healthy young women (32.1 +/- 4 yr) to measure left ventricular (LV) and right ventricular (RV) mass, volumes, and morphology accurately before and after 60 days of 6 degrees head-down tilt (HDT) bed rest. Subjects were matched and then randomly assigned to sedentary bed rest (controls, n = 8) or two treatment groups consisting of 1) exercise training using supine treadmill running within lower body negative pressure plus resistive training (n = 8), or 2) protein (0.45 g x kg(-1) x day(-1) increase) plus branched-chain amino acid (BCAA) (7.2 g/day) supplementation (n = 8). After sedentary bed rest without nutritional supplementation, there were significant reductions in LV (96 +/- 26 to 77 +/- 25 ml; P = 0.03) and RV volumes (104 +/- 33 to 86 +/- 25 ml; P = 0.02), LV (2.2 +/- 0.2 to 2.0 +/- 0.2 g/kg; P = 0.003) and RV masses (0.8 +/- 0.1 to 0.6 +/- 0.1 g/kg; P men (8.0%; Perhonen MA, Franco F, Lane LD, Buckey JC, Blomqvist Zerwekh JE, Peshock RM, Weatherall PT, Levine BD. J Appl Physiol 91: 645-653, 2001). In contrast, there were no significant reductions in LV or RV volumes in the exercise-trained group, and the length of the major axis was preserved. Moreover, there were significant increases in LV (1.9 +/- 0.4 to 2.3 +/- 0.3 g/kg; P women similar to men following sedentary 60 days HDT bed rest. However, exercise training and, to a

  9. Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome.

    Science.gov (United States)

    Galvez-Ruiz, Alberto

    2015-01-01

    Dominant optic atrophy (DOA) and Wolfram syndrome share a great deal of clinical variability, including an association with hearing loss and the presence of optic atrophy at similar ages. The objective of this paper was to discuss the phenotypic variability of these syndromes with respect to the presentation of two clinical cases. We present two patients, each with either DOA or Wolfram syndrome, and contribute to the research literature through our findings of two novel mutations. The overlapping of several clinical characteristics in hereditary optic neuropathies can complicate the differential diagnosis. Future studies are needed to better determine the genotype-phenotype correlation for these diseases.

  10. Assessing atrophy measurement techniques in dementia: Results from the MIRIAD atrophy challenge

    Science.gov (United States)

    Cash, David M.; Frost, Chris; Iheme, Leonardo O.; Ünay, Devrim; Kandemir, Melek; Fripp, Jurgen; Salvado, Olivier; Bourgeat, Pierrick; Reuter, Martin; Fischl, Bruce; Lorenzi, Marco; Frisoni, Giovanni B.; Pennec, Xavier; Pierson, Ronald K.; Gunter, Jeffrey L.; Senjem, Matthew L.; Jack, Clifford R.; Guizard, Nicolas; Fonov, Vladimir S.; Collins, D. Louis; Modat, Marc; Cardoso, M. Jorge; Leung, Kelvin K.; Wang, Hongzhi; Das, Sandhitsu R.; Yushkevich, Paul A.; Malone, Ian B.; Fox, Nick C.; Schott, Jonathan M.; Ourselin, Sebastien

    2015-01-01

    Structural MRI is widely used for investigating brain atrophy in many neurodegenerative disorders, with several research groups developing and publishing techniques to provide quantitative assessments of this longitudinal change. Often techniques are compared through computation of required sample size estimates for future clinical trials. However interpretation of such comparisons is rendered complex because, despite using the same publicly available cohorts, the various techniques have been assessed with different data exclusions and different statistical analysis models. We created the MIRIAD atrophy challenge in order to test various capabilities of atrophy measurement techniques. The data consisted of 69 subjects (46 Alzheimer's disease, 23 control) who were scanned multiple (up to twelve) times at nine visits over a follow-up period of one to two years, resulting in 708 total image sets. Nine participating groups from 6 countries completed the challenge by providing volumetric measurements of key structures (whole brain, lateral ventricle, left and right hippocampi) for each dataset and atrophy measurements of these structures for each time point pair (both forward and backward) of a given subject. From these results, we formally compared techniques using exactly the same dataset. First, we assessed the repeatability of each technique using rates obtained from short intervals where no measurable atrophy is expected. For those measures that provided direct measures of atrophy between pairs of images, we also assessed symmetry and transitivity. Then, we performed a statistical analysis in a consistent manner using linear mixed effect models. The models, one for repeated measures of volume made at multiple time-points and a second for repeated “direct” measures of change in brain volume, appropriately allowed for the correlation between measures made on the same subject and were shown to fit the data well. From these models, we obtained estimates of the

  11. Assessing atrophy measurement techniques in dementia: Results from the MIRIAD atrophy challenge.

    Science.gov (United States)

    Cash, David M; Frost, Chris; Iheme, Leonardo O; Ünay, Devrim; Kandemir, Melek; Fripp, Jurgen; Salvado, Olivier; Bourgeat, Pierrick; Reuter, Martin; Fischl, Bruce; Lorenzi, Marco; Frisoni, Giovanni B; Pennec, Xavier; Pierson, Ronald K; Gunter, Jeffrey L; Senjem, Matthew L; Jack, Clifford R; Guizard, Nicolas; Fonov, Vladimir S; Collins, D Louis; Modat, Marc; Cardoso, M Jorge; Leung, Kelvin K; Wang, Hongzhi; Das, Sandhitsu R; Yushkevich, Paul A; Malone, Ian B; Fox, Nick C; Schott, Jonathan M; Ourselin, Sebastien

    2015-12-01

    Structural MRI is widely used for investigating brain atrophy in many neurodegenerative disorders, with several research groups developing and publishing techniques to provide quantitative assessments of this longitudinal change. Often techniques are compared through computation of required sample size estimates for future clinical trials. However interpretation of such comparisons is rendered complex because, despite using the same publicly available cohorts, the various techniques have been assessed with different data exclusions and different statistical analysis models. We created the MIRIAD atrophy challenge in order to test various capabilities of atrophy measurement techniques. The data consisted of 69 subjects (46 Alzheimer's disease, 23 control) who were scanned multiple (up to twelve) times at nine visits over a follow-up period of one to two years, resulting in 708 total image sets. Nine participating groups from 6 countries completed the challenge by providing volumetric measurements of key structures (whole brain, lateral ventricle, left and right hippocampi) for each dataset and atrophy measurements of these structures for each time point pair (both forward and backward) of a given subject. From these results, we formally compared techniques using exactly the same dataset. First, we assessed the repeatability of each technique using rates obtained from short intervals where no measurable atrophy is expected. For those measures that provided direct measures of atrophy between pairs of images, we also assessed symmetry and transitivity. Then, we performed a statistical analysis in a consistent manner using linear mixed effect models. The models, one for repeated measures of volume made at multiple time-points and a second for repeated "direct" measures of change in brain volume, appropriately allowed for the correlation between measures made on the same subject and were shown to fit the data well. From these models, we obtained estimates of the

  12. Muscle Atrophy Reversed by Growth Factor Activation of Satellite Cells in a Mouse Muscle Atrophy Model

    DEFF Research Database (Denmark)

    Hauerslev, Simon; Vissing, John; Krag, Thomas O

    2014-01-01

    Muscular dystrophies comprise a large group of inherited disorders that lead to progressive muscle wasting. We wanted to investigate if targeting satellite cells can enhance muscle regeneration and thus increase muscle mass. We treated mice with hepatocyte growth factor and leukemia inhibitory...... factor under three conditions: normoxia, hypoxia and during myostatin deficiency. We found that hepatocyte growth factor treatment led to activation of the Akt/mTOR/p70S6K protein synthesis pathway, up-regulation of the myognic transcription factors MyoD and myogenin, and subsequently the negative growth...... control factor, myostatin and atrophy markers MAFbx and MuRF1. Hypoxia-induced atrophy was partially restored by hepatocyte growth factor combined with leukemia inhibitory factor treatment. Dividing satellite cells were three-fold increased in the treatment group compared to control. Finally, we...

  13. Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

    Directory of Open Access Journals (Sweden)

    Millino Caterina

    2009-04-01

    Full Text Available Abstract Background Spinal muscular atrophy (SMA is a neurodegenerative disorder associated with mutations of the survival motor neuron gene SMN and is characterized by muscle weakness and atrophy caused by degeneration of spinal motor neurons. SMN has a role in neurons but its deficiency may have a direct effect on muscle tissue. Methods We applied microarray and quantitative real-time PCR to study at transcriptional level the effects of a defective SMN gene in skeletal muscles affected by the two forms of SMA: the most severe type I and the mild type III. Results The two forms of SMA generated distinct expression signatures: the SMA III muscle transcriptome is close to that found under normal conditions, whereas in SMA I there is strong alteration of gene expression. Genes implicated in signal transduction were up-regulated in SMA III whereas those of energy metabolism and muscle contraction were consistently down-regulated in SMA I. The expression pattern of gene networks involved in atrophy signaling was completed by qRT-PCR, showing that specific pathways are involved, namely IGF/PI3K/Akt, TNF-α/p38 MAPK and Ras/ERK pathways. Conclusion Our study suggests a different picture of atrophy pathways in each of the two forms of SMA. In particular, p38 may be the regulator of protein synthesis in SMA I. The SMA III profile appears as the result of the concurrent presence of atrophic and hypertrophic fibers. This more favorable condition might be due to the over-expression of MTOR that, given its role in the activation of protein synthesis, could lead to compensatory hypertrophy in SMA III muscle fibers.

  14. Fluid biomarkers in multiple system atrophy

    DEFF Research Database (Denmark)

    Laurens, Brice; Constantinescu, Radu; Freeman, Roy

    2015-01-01

    Despite growing research efforts, no reliable biomarker currently exists for the diagnosis and prognosis of multiple system atrophy (MSA). Such biomarkers are urgently needed to improve diagnostic accuracy, prognostic guidance and also to serve as efficacy measures or surrogates of target...... engagement for future clinical trials. We here review candidate fluid biomarkers for MSA and provide considerations for further developments and harmonization of standard operating procedures. A PubMed search was performed until April 24, 2015 to review the literature with regard to candidate blood...... and cerebrospinal fluid (CSF) biomarkers for MSA. Abstracts of 1760 studies were retrieved and screened for eligibility. The final list included 60 studies assessing fluid biomarkers in patients with MSA. Most studies have focused on alpha-synuclein, markers of axonal degeneration or catecholamines. Their results...

  15. Diagnosis and therapy of multiple system atrophy

    Directory of Open Access Journals (Sweden)

    GU Wei-hong

    2012-06-01

    Full Text Available Multiple system atrophy (MSA is a sporadic and rapidly progressive neurodegenerative disorder characterised clinically by any combination of autonomic, cerebellar ataxia, parkinsonian, and pyramidal signs. Over the past 10 years, substantial progress has been achieved to establish MSA as an α-synucleinopathy along with other neurodegenerative diseases. Although the diagnosis of this disorder is largely based on clinical expertise, some investigations have been proposed to assist in early differential diagnosis, especially neuroimaging examination, which have resulted in revised diagnostic criteria. The UMSARS is a reliable and valid scale for semiquantitative clinical assessments of MSA patients. An outline of the rationale for managing symptomatic deterioration in MSA is provided including novel neuroprotective therapeutic approaches, together with the treatment of traditional Chinese medicine.

  16. Isolated Unilateral Tongue Atrophy: A Possible Late Complication of Juxta Cephalic Radiation Therapy.

    Science.gov (United States)

    Alqahtani, Saeed A; Agha, Caroline; Rothstein, Ted

    2016-07-26

    BACKGROUND Isolated unilateral hypoglossal nerve injury is extremely rare. It may be caused by radiation therapy targeting neoplasms of the cephalic region. CASE REPORT A 51-year-old man with synovial sarcoma of the left upper arm status post extensive radiation therapy in 1980 presented in late 2014 with gradual onset of speech difficulty and difficulty moving his tongue for a couple of weeks. Neurological examination revealed isolated left-sided unilateral tongue atrophy. Postradiation residual extensive cicatrix with erythema over the whole left upper extremity extending to the neck on the affected side was noticed. On head magnetic resonance imaging (MRI) before and after administration of gadolinium, he was found to have asymmetrically fatty striations, atrophy, and fibrosis in the left tongue consistent with radiation toxicity. The patient's tongue weakness persisted without improvement. CONCLUSIONS The diagnosis of unilateral hypoglossal nerve injury is usually difficult. Detailed neurological examinations and thorough investigations including head MRI are very helpful. Previous exposure to radiation therapy is a potential cause of hypoglossal nerve injury. To our knowledge, this is the first case report that presents isolated unilateral tongue atrophy as a late complication of juxta cephalic radiation therapy.

  17. Disappearance of cerebral cortical atrophy following replacement therapy with vitamin B12 in an infant

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz Keskin

    2016-03-01

    Full Text Available Vitamin B12 (cobalamin deficiency during infancy is seen most commonly in exclusively breast-fed infants born to mothers with inadequate vitamin B12 stores. In addition to megaoblastic anemia, physical, social and neuromotor retardation may be seen in affected patients. In severe cases, thrombocytopenia and neutropenia may accompany anemia mimicking leukemia or aplastic anemia. Patients may rarely develop cerebral cortical atrophy evident on neuroimaging. In this article, a 12-month-old female infant with psychomotor developmental retardation who was referred to our hospital with the initial diagnosis of leukemia due to the finding of pancytopenia is presented. Further investigations revealed severe nutritional vitamin B12 deficiency in this case. Cranial magnetic resonance imaging (MRI showed cerebral cortical atrophy. Replacement therapy with vitamin B12 resulted in marked improvement of psychomotor status, and cranial MRI performed 7 months following the diagnosis and treatment initiation revealed resolution of cortical atrophy. [Cukurova Med J 2016; 41(1.000: 152-160

  18. Macroscopic extent of gastric mucosal atrophy: increased risk factor for esophageal squamous cell carcinoma in Japan

    Directory of Open Access Journals (Sweden)

    Kobayashi Noritoshi

    2009-05-01

    Full Text Available Abstract Background We aimed to estimate whether the macroscopic extent of gastric mucosal atrophy is associated with a risk for esophageal squamous cell carcinoma using a case-control study in Japanese subjects, a population known to have a high prevalence of CagA-positive H. pylori infection. Methods Two hundred and fifty-three patients who were diagnosed as having esophageal squamous cell carcinoma, and 253 sex- and age-matched controls were enrolled in the present study. The macroscopic extent of gastric mucosal atrophy was evaluated based on the Kimura and Takemoto Classification. A conditional logistic regression model with adjustment for potential confounding factors was used to assess the associations. Results Body gastritis, defined endoscopically, was independently associated with an increased risk for esophageal squamous cell carcinoma. Conclusion Our findings suggest that macroscopic body gastritis may be a risk factor for esophageal squamous cell carcinoma in Japan. Further studies are needed to confirm these findings.

  19. Anterior pituitary lobe atrophy as late complication of hemorrhagic fever with renal syndrome

    Directory of Open Access Journals (Sweden)

    Jovanović Dragan

    2009-01-01

    Full Text Available Introduction. Hemorrhagic fever with renal syndrome (HFRS is acute infective multisystemic disease followed by febrility, hemorrhages and acute renal insufficiency. Bleeding in the anterior pituitary lobe leading to tissue necrosis occurs in acute stage of severe clinical forms of HFRS, while atrophy of the anterior pituitary lobe with diminution of the gland function occurs after recovery stage. Case report. We presented a patient with the development of chronic renal insufficiency and hypopituitarism as complication that had been diagnosed six years after Hantavirus infection. Magnetic resonance of the pituitary gland revealed atrophy and empty sella turcica. Conclusion. Regarding frequency of this viral infection and its endemic character in some parts of our country partial and/or complete loss of pituitary function should be considered during the late stage of HFRS.

  20. Reviewing the options for local estrogen treatment of vaginal atrophy

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    Lindahl SH

    2014-03-01

    Full Text Available Sarah H Lindahl Sutter East Bay Medical Foundation, SEBMF – Diablo Division, Castro Valley, CA, USA Background: Vaginal atrophy is a chronic condition with symptoms that include vaginal dryness, pain during sex, itching, irritation, burning, and discharge, as well as various urinary problems. Up to 45% of postmenopausal women may be affected, but it often remains underreported and undertreated. This article aims to review the current recommendations for treatment of vaginal atrophy, and current data on the effectiveness and safety of local vaginal estrogen therapies. Methods: Literature regarding vaginal atrophy (2007–2012 was retrieved from PubMed and summarized, with emphasis on data related to the treatment of vaginal atrophy with local vaginal estrogen therapy. Results: Published data support the effectiveness and endometrial safety of low-dose local estrogen therapies. These results further support the general recommendation by the North American Menopause Society that a progestogen is not needed for endometrial protection in patients using low-dose local vaginal estrogen. Benefits of long-term therapy for vaginal atrophy include sustained relief of symptoms as well as physiological improvements (eg, decreased vaginal pH and increased blood flow, epithelial thickness, secretions. Conclusion: Currently available local vaginal estrogen therapies are well tolerated and effective in relieving symptoms of vaginal atrophy. Recent data support the endometrial safety of low-dose regimens for up to 1 year. Keywords: menopause, estrogen, local estrogen therapy, vaginal atrophy

  1. Transcriptional profile of a myotube starvation model of atrophy

    Science.gov (United States)

    Stevenson, Eric J.; Koncarevic, Alan; Giresi, Paul G.; Jackman, Robert W.; Kandarian, Susan C.

    2005-01-01

    Skeletal muscle wasting is a pervasive phenomenon that can result from a wide range of pathological conditions as well as from habitual muscular inactivity. The present work describes a cell-culture condition that induces significant atrophy in skeletal muscle C2C12 myotubes. The failure to replenish differentiation media in mature myotubes leads to rapid atrophy (53% in diameter), which is referred to here as starvation. Affymetrix microarrays were used to develop a transcriptional profile of control (fed) vs. atrophied (nonfed) myotubes. Myotube starvation was characterized by an upregulation of genes involved in translational inhibition, amino acid biosynthesis and transport, and cell cycle arrest/apoptosis, among others. Downregulated genes included several structural and regulatory elements of the extracellular matrix as well as several elements of Wnt/frizzled and TGF-beta signaling pathways. Interestingly, the characteristic transcriptional upregulation of the ubiquitin-proteasome system, calpains, and cathepsins known to occur in multiple in vivo models of atrophy were not seen during myotube starvation. With the exception of the downregulation of extracellular matrix genes, serine protease inhibitor genes, and the upregulation of the translation initiation factor PHAS-I, this model of atrophy in cell culture has a transcriptional profile quite distinct from any study published to date with atrophy in whole muscle. These data show that, although the gross morphology of atrophied muscle fibers may be similar in whole muscle vs. myotube culture, the processes by which this phenotype is achieved differ markedly.

  2. White matter hyperintensities are associated with disproportionate progressive hippocampal atrophy

    Science.gov (United States)

    Manning, Emily N.; Bartlett, Jonathan W.; Cash, David M.; Malone, Ian B.; Ridgway, Gerard R.; Lehmann, Manja; Leung, Kelvin K.; Sudre, Carole H.; Ourselin, Sebastien; Biessels, Geert Jan; Carmichael, Owen T.; Fox, Nick C.; Cardoso, M. Jorge; Barnes, Josephine

    2017-01-01

    ABSTRACT This study investigates relationships between white matter hyperintensity (WMH) volume, cerebrospinal fluid (CSF) Alzheimer's disease (AD) pathology markers, and brain and hippocampal volume loss. Subjects included 198 controls, 345 mild cognitive impairment (MCI), and 154 AD subjects with serial volumetric 1.5‐T MRI. CSF Aβ42 and total tau were measured (n = 353). Brain and hippocampal loss were quantified from serial MRI using the boundary shift integral (BSI). Multiple linear regression models assessed the relationships between WMHs and hippocampal and brain atrophy rates. Models were refitted adjusting for (a) concurrent brain/hippocampal atrophy rates and (b) CSF Aβ42 and tau in subjects with CSF data. WMH burden was positively associated with hippocampal atrophy rate in controls (P = 0.002) and MCI subjects (P = 0.03), and with brain atrophy rate in controls (P = 0.03). The associations with hippocampal atrophy rate remained following adjustment for concurrent brain atrophy rate in controls and MCIs, and for CSF biomarkers in controls (P = 0.007). These novel results suggest that vascular damage alongside AD pathology is associated with disproportionately greater hippocampal atrophy in nondemented older adults. © 2016 The Authors Hippocampus Published by Wiley Periodicals, Inc. PMID:27933676

  3. White matter hyperintensities are associated with disproportionate progressive hippocampal atrophy.

    Science.gov (United States)

    Fiford, Cassidy M; Manning, Emily N; Bartlett, Jonathan W; Cash, David M; Malone, Ian B; Ridgway, Gerard R; Lehmann, Manja; Leung, Kelvin K; Sudre, Carole H; Ourselin, Sebastien; Biessels, Geert Jan; Carmichael, Owen T; Fox, Nick C; Cardoso, M Jorge; Barnes, Josephine

    2017-03-01

    This study investigates relationships between white matter hyperintensity (WMH) volume, cerebrospinal fluid (CSF) Alzheimer's disease (AD) pathology markers, and brain and hippocampal volume loss. Subjects included 198 controls, 345 mild cognitive impairment (MCI), and 154 AD subjects with serial volumetric 1.5-T MRI. CSF Aβ42 and total tau were measured (n = 353). Brain and hippocampal loss were quantified from serial MRI using the boundary shift integral (BSI). Multiple linear regression models assessed the relationships between WMHs and hippocampal and brain atrophy rates. Models were refitted adjusting for (a) concurrent brain/hippocampal atrophy rates and (b) CSF Aβ42 and tau in subjects with CSF data. WMH burden was positively associated with hippocampal atrophy rate in controls (P = 0.002) and MCI subjects (P = 0.03), and with brain atrophy rate in controls (P = 0.03). The associations with hippocampal atrophy rate remained following adjustment for concurrent brain atrophy rate in controls and MCIs, and for CSF biomarkers in controls (P = 0.007). These novel results suggest that vascular damage alongside AD pathology is associated with disproportionately greater hippocampal atrophy in nondemented older adults. © 2016 The Authors Hippocampus Published by Wiley Periodicals, Inc.

  4. Cerebellar Atrophy in Adult Survivors of Childhood Cerebellar Tumor.

    Science.gov (United States)

    Ailion, Alyssa S; King, Tricia Z; Wang, Liya; Fox, Michelle E; Mao, Hui; Morris, Robin M; Crosson, Bruce

    2016-05-01

    The cerebellum (CB) is known for its role in supporting processing speed (PS) and cognitive efficiencies. The CB often sustains damage from treatment and resection in pediatric patients with posterior fossa tumors. Limited research suggests that CB atrophy may be associated with the radiation treatment experienced during childhood. The purpose of the study was to measure cerebellar atrophy to determine its neurobehavioral correlates. Brain magnetic resonance images were collected from 25 adult survivors of CB tumors and age- and gender-matched controls (M age= 24 years (SD=5), 52% female). Average age at diagnosis was 9 years (SD=5) and average time since diagnosis was 15 years (SD=5). PS was measured by the Symbol Digit Modality Test. To quantify atrophy, an objective formula was developed based on prior literature, in which Atrophy=[(CB White+CB Gray Volume)/Intracranial Vault (ICV)]controls-[(CB White+CB Gray+Lesion Size Volume)/ICV]survivors. Regression analyses found that the interaction term (age at diagnosis*radiation) predicts CB atrophy; regression equations included the Neurological Predictor Scale, lesion size, atrophy, and the interaction term and accounted for 33% of the variance in oral PS and 48% of the variance in written PS. Both interactions suggest that individuals with smaller CB lesion size but a greater degree of CB atrophy had slower PS, whereas individuals with a larger CB lesion size and less CB atrophy were less affected. The results of the current study suggest that young age at diagnosis and radiation is associated with CB atrophy, which interacts with lesion size to impact both written and oral PS.

  5. Treating dyspareunia caused by vaginal atrophy: a review of treatment options using vaginal estrogen therapy

    Directory of Open Access Journals (Sweden)

    SA Kingsberg

    2009-08-01

    Full Text Available SA Kingsberg¹, S Kellogg², M Krychman³1University Hospitals Case Medical Center, Case Western Reserve University Cleveland OH, USA; 2The Pelvic and Sexual Health Institute of Philadelphia, Drexel University College of Medicine, Philadelphia, USA; 3Southern California Center for Sexual Health and Survivorship Medicine, Newport Beach, CA, USAAbstract: Vulvovaginal atrophy (VVA and dryness are common symptoms of the decline in endogenous production of estrogen at menopause and often result in dyspareunia. Yet while 10% to 40% of women experience discomfort due to VVA, it is estimated that only 25% seek medical help. The main goals of treatment for vaginal atrophy are to improve symptoms and to restore vaginal and vulvar anatomic changes. Treatment choices for postmenopausal dyspareunia resulting from vulvovaginal atrophy will depend on the underlying etiology and might include individualized treatment. A number of forms of vaginal estrogen and manner of delivery are currently available to treat moderate to severe dyspareunia caused by VVA. They all have been shown to be effective and are often the preferred treatment due to the targeted efficacy for urogenital tissues while resulting in only minimal systemic absorption. Both healthcare professionals and patients often find it difficult to broach the subject of sexual problems associated with VVA. However, with minimal effort to initiate a conversation about these problems, healthcare providers can provide useful information to their postmenopausal patients in order to help them each choose the optimal treatment for their needs and symptoms.Keywords: dyspareunia, postmenopausal vulvovaginal atrophy, vaginal estrogen therapy

  6. Brain atrophy in multiple sclerosis: therapeutic, cognitive and clinical impact

    Directory of Open Access Journals (Sweden)

    Juan Ignacio Rojas

    2016-03-01

    Full Text Available ABSTRACT Multiple sclerosis (MS was always considered as a white matter inflammatory disease. Today, there is an important body of evidence that supports the hypothesis that gray matter involvement and the neurodegenerative mechanism are at least partially independent from inflammation. Gray matter atrophy develops faster than white matter atrophy, and predominates in the initial stages of the disease. The neurodegenerative mechanism creates permanent damage and correlates with physical and cognitive disability. In this review we describe the current available evidence regarding brain atrophy and its consequence in MS patients.

  7. Posterior cortical atrophy: an atypical variant of Alzheimer disease.

    Science.gov (United States)

    Suárez-González, Aida; Henley, Susie M; Walton, Jill; Crutch, Sebastian J

    2015-06-01

    Posterior cortical atrophy (PCA) is a neurodegenerative syndrome characterized by striking progressive visual impairment and a pattern of atrophy mainly involving posterior cortices. PCA is the most frequent atypical presentation of Alzheimer disease. The purpose of this article is to provide a summary of PCA's neuropsychiatric manifestations. Emotional and psychotic symptoms are discussed in the context of signal characteristic features of the PCA syndrome (the early onset, focal loss of visual perception, focal posterior brain atrophy) and the underlying cause of the disease. The authors' experience with psychotherapeutic intervention and PCA support groups is shared in detail.

  8. Deformation-Based Atrophy Estimation for Alzheimer’s Disease

    DEFF Research Database (Denmark)

    Pai, Akshay Sadananda Uppinakudru

    Alzheimer’s disease (AD) - the most common form of dementia, is a term used for accelerated memory loss and cognitive abilities enough to severely hamper day-to-day activities. One of the most globally accepted markers for AD is atrophy, in mainly the brain parenchyma. The goal of the PhD project...... and a new way to estimate atrophy from a deformation field. We demonstrate the performance of the proposed solution but applying it on the publicly available Alzheimer’s disease neuroimaging data (ADNI) initiative and compare to existing state-of-art atrophy estimation methods....

  9. Deformation-Based Atrophy Estimation for Alzheimer’s Disease

    DEFF Research Database (Denmark)

    Pai, Akshay Sadananda Uppinakudru

    Alzheimer’s disease (AD) - the most common form of dementia, is a term used for accelerated memory loss and cognitive abilities enough to severely hamper day-to-day activities. One of the most globally accepted markers for AD is atrophy, in mainly the brain parenchyma. The goal of the PhD project...... and a new way to estimate atrophy from a deformation field. We demonstrate the performance of the proposed solution but applying it on the publicly available Alzheimer’s disease neuroimaging data (ADNI) initiative and compare to existing state-of-art atrophy estimation methods....

  10. Clinical characteristics and efficacy of microvascular decompression for young onset hemifacial spasm patients%青年面肌痉挛患者的临床特征及显微血管减压术疗效分析

    Institute of Scientific and Technical Information of China (English)

    姜成荣; 倪红斌; 戴宇翔; 徐武; 梁维邦

    2015-01-01

    Objective To investigate the clinical characteristics,causes and surgical treatment of young onset hemifacial spasm patients.Methods A total of 982 patients underwent microvascular decompression (MVD) for hemifacial spasm (HFS) in Nanjing Drum Tower Hospital The Affiliated Hospital of Nanjing University Medical School from January,2010 to December,2013.17 patients with the onset age ≤22 years old were analyzed retrospectively.Results Among the 17 unilateral HFS patients,4 were males and 13 were females.The mean age of onset was [19.4 ±2.3(14-22)] years.The mean duration before operation was [5.5 ± 3.0 (1-11)] years.The preoperative MRI showed that the average outside diameter of the offending vessels was (1.66 ± 0.81) mm,the average angle of the posterior fossa was (29.92 ± 4.78) °.The offending arteries were observed in all patients.The local anatomic variations and exceptional arteries were found in 14 patients.16 patients got a clinical resolution,of which 14 cases were cured immediately,delayed resolution (1,3 months after surgery) was found in two cases,without recurrence during the follow-up period(1-3 years).One patient relapsed 10 d after the surgery.One case of delayed facial paralysis (14 days after surgery) and one hoarseness were observed.Conclusions Young onset HFS patients were rare.Exceptional arteries and anatomic structural variation might be the main causes of this disease.MVD had good effect.%目的 探讨青年面肌痉挛(HFS)患者的临床特征、发病原因及显微血管减压术的治疗效果.方法 2010年1月至2013年12月南京大学医学院附属鼓楼医院神经外科采用显微血管减压术治疗HFS患者982例,回顾性分析其中17例(1.7%)发病年龄≤22岁患者的临床特征及治疗效果.结果 17例患者均为单侧HFS;其中男4例,女13例;发病年龄14 ~ 22岁,平均为(19.4±2.3)岁;病程l~11年,平均为(5.5±3.0)年.术前MRI显示,17例责任血管平均外径为(1.66 ±0.81)mm

  11. Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy.

    Science.gov (United States)

    Iyer, Chitra C; McGovern, Vicki L; Wise, Dawnne O; Glass, David J; Burghes, Arthur H M

    2014-05-01

    Spinal muscular atrophy (SMA) is an autosomal recessive disease causing degeneration of lower motor neurons and muscle atrophy. One therapeutic avenue for SMA is targeting signaling pathways in muscle to ameliorate atrophy. Muscle Atrophy F-box, MAFbx, and Muscle RING Finger 1, MuRF1, are muscle-specific ubiquitin ligases upregulated in skeletal and cardiac muscle during atrophy. Homozygous knock-out of MAFbx or MuRF1 causes muscle sparing in adult mice subjected to atrophy by denervation. We wished to determine whether blockage of the major muscle atrophy pathways by deletion of MAFbx or MuRF1 in a mouse model of SMA would improve the phenotype. Deletion of MAFbx in the Δ7 SMA mouse model had no effect on the weight and the survival of the mice while deletion of MuRF1 was deleterious. MAFbx(-/-)-SMA mice showed a significant alteration in fiber size distribution tending towards larger fibers. In skeletal and cardiac tissue MAFbx and MuRF1 transcripts were upregulated whereas MuRF2 and MuRF3 levels were unchanged in Δ7 SMA mice. We conclude that deletion of the muscle ubiquitin ligases does not improve the phenotype of a Δ7 SMA mouse. Furthermore, it seems unlikely that the beneficial effect of HDAC inhibitors is mediated through inhibition of MAFbx and MuRF1. Copyright © 2014 Elsevier B.V. All rights reserved.

  12. Prognostic value of intra-operative abnormal muscle response monitoring during microvascular decompression for long-term outcome of hemifacial spasm.

    Science.gov (United States)

    Li, Jiping; Zhang, Yuqing; Zhu, Hongwei; Li, Yongjie

    2012-01-01

    The reliability of intra-operative abnormal muscle response (AMR) monitoring as an indicator of post-operative outcome in patients with hemifacial spasm (HFS) is under debate. The primary aim of this study was to evaluate the correlation between intra-operative AMR changes and long-term post-operative outcome. We monitored intra-operative AMR during microvascular decompression (MVD) in consecutive patients with HFS (n = 104). Patients in this study were divided into two groups based on whether their AMR disappeared or persisted following MVD. Ninety patients were followed-up, and the mean duration from surgery to final follow-up examination was 3.7 years. Fourteen patients were lost to follow-up. AMR disappeared during surgery for 80 patients; of these, 74 achieved complete resolution of HFS, five had persistent HFS, and one patient developed a recurrence of HFS. Of the 10 patients with persistent AMR despite effective MVD, eight patients achieved complete resolution, one patient had persistent HFS, and one developed recurrent HFS. The long-term clinical outcome of HFS after MVD did not significantly correlate with intra-operative AMR changes (p = 0.791). Therefore, we suggest that intra-operative AMR monitoring may not be a reliable indicator of long-term post-operative outcome for HFS.

  13. Preoperative assessment of trigeminal neuralgia and hemifacial spasm using constructive interference in steady state-three-dimensional fourier transformation magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Yamakami, Iwao; Kobayashi, Eiichi; Hirai, Shinji; Yamaura, Akira [Chiba Univ. (Japan). School of Medicine

    2000-11-01

    Results of microvascular decompression (MVD) for trigeminal neuralgia (TN) and hemifacial spasm (HFS) may be improved by accurate preoperative assessment of neurovascular relationships at the root entry/exit zone (REZ). Constructive interference in steady state (CISS)-three-dimensional Fourier transformation (3DFT) magnetic resonance (MR) imaging was evaluated for visualizing the neurovascular relationships at the REZ. Fourteen patients with TN and eight patients with HFS underwent MR imaging using CISS-3DFT and 3D fast inflow with steady-state precession (FISP) sequences. Axial images of the cerebellopontine angle (CPA) obtained by the two sequences were reviewed to assess the neurovascular relationships at the REZ of the trigeminal and facial nerves. Eleven patients subsequently underwent MVD. Preoperative MR imaging findings were related to surgical observations and results. CISS MR imaging provided excellent contrast between the cranial nerves, small vessels, and cerebrospinal fluid (CSF) in the CPA. CISS was significantly better than FISP for delineating anatomic detail in the CPA (trigeminal and facial nerves, petrosal vein) and abnormal neurovascular relationships responsible for TN and HFS (vascular contact and deformity at the REZ). Preoperative CISS MR imaging demonstrated precisely the neurovascular relationships at the REZ and identified the offending artery in all seven patients with TN undergoing MVD. CISS MR imaging has high resolution and excellent contrast between cranial nerves, small vessels, and CSF, so can precisely and accurately delineate normal and abnormal neurovascular relationships at the REZ in the CPA, and is a valuable preoperative examination for MVD. (author)

  14. Continuous intraoperative monitoring of abnormal muscle response in microvascular decompression for hemifacial spasm; a real-time navigator for complete relief.

    Science.gov (United States)

    Hirono, Seiichiro; Yamakami, Iwao; Sato, Motoki; Kado, Ken; Fukuda, Kazumasa; Nakamura, Takao; Higuchi, Yoshinori; Saeki, Naokatsu

    2014-04-01

    Intermittent monitoring of abnormal muscle response (iAMR) has been reported to be useful for improving the surgical outcome of microvascular decompression (MVD) for hemifacial spasm (HFS). However, iAMR has not elucidated the relationship between AMR change and the corresponding surgical procedure, or the pathogenesis of AMR and HFS. The purpose of this study is to clarify the usefulness of continuous AMR monitoring (cAMR) for improving the surgical results of MVD and for understanding the relationship between AMR change and corresponding surgical procedure, and the pathogenesis of AMR and HFS. Fifty consecutive patients with HFS treated by MVD under cAMR monitoring, which continuously records AMR every minute throughout the surgical period, were retrospectively analyzed. The patients were assessed for the presence of HFS 1 week after the surgery and at final follow-up. Forty-six patients showed the complete disappearance of HFS. In 32, AMR disappeared abruptly and simultaneously with decompression of an offending vessel. AMR showed dynamic and various changes including temporary disappearance, or sudden, gradual, or componential disappearance before and during the decompression procedure, and even during the dural and skin closure after the initial decompression procedure. Facial spasm remained in four patients despite permanent AMR disappearance. cAMR monitoring improves the outcome of MVD. Although the main cause of HFS and AMR is vascular compression at the facial nerve, hyperexcitability of the facial nucleus is also involved in the pathogenesis of HFS and AMR. The proportional involvement of these causes differs between patients.

  15. Mechanisms of cisplatin-induced muscle atrophy

    Energy Technology Data Exchange (ETDEWEB)

    Sakai, Hiroyasu, E-mail: sakai@hoshi.ac.jp [Department of Pharmacology, Hoshi University, 2-4-41 Ebara, Shinagawa-ku, Tokyo 1428501 (Japan); Division of Pharmacy Professional Development and Research, Hoshi University, 2-4-41 Ebara, Shinagawa-ku, Tokyo 1428501 (Japan); Sagara, Atsunobu; Arakawa, Kazuhiko; Sugiyama, Ryoto; Hirosaki, Akiko; Takase, Kazuhide; Jo, Ara [Department of Pharmacology, Hoshi University, 2-4-41 Ebara, Shinagawa-ku, Tokyo 1428501 (Japan); Sato, Ken [Department of Pharmacology, Hoshi University, 2-4-41 Ebara, Shinagawa-ku, Tokyo 1428501 (Japan); Division of Pharmacy Professional Development and Research, Hoshi University, 2-4-41 Ebara, Shinagawa-ku, Tokyo 1428501 (Japan); Chiba, Yoshihiko [Department of Biology, Hoshi University, 2-4-41 Ebara, Shinagawa-ku, Tokyo 1428501 (Japan); Yamazaki, Mitsuaki [Department of Anesthesiology, Graduate School of Medicine and Pharmaceutical Sciences for Research, University of Toyama, 2630 Sugitani, Toyama-shi, Toyama 9300194 (Japan); Matoba, Motohiro [Department of Palliative Medicine and Psychooncology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo 1040045 (Japan); Narita, Minoru, E-mail: narita@hoshi.ac.jp [Department of Pharmacology, Hoshi University, 2-4-41 Ebara, Shinagawa-ku, Tokyo 1428501 (Japan)

    2014-07-15

    Fatigue is the most common side effect of chemotherapy. However, the mechanisms of “muscle fatigue” induced by anti-cancer drugs are not fully understood. We therefore investigated the muscle-atrophic effect of cisplatin, a platinum-based anti-cancer drug, in mice. C57BL/6J mice were treated with cisplatin (3 mg/kg, i.p.) or saline for 4 consecutive days. On Day 5, hindlimb and quadriceps muscles were isolated from mice. The loss of body weight and food intake under the administration of cisplatin was the same as those in a dietary restriction (DR) group. Under the present conditions, the administration of cisplatin significantly decreased not only the muscle mass of the hindlimb and quadriceps but also the myofiber diameter, compared to those in the DR group. The mRNA expression levels of muscle atrophy F-box (MAFbx), muscle RING finger-1 (MuRF1) and forkhead box O3 (FOXO3) were significantly and further increased by cisplatin treated group, compared to DR. Furthermore, the mRNA levels of myostatin and p21 were significantly upregulated by the administration of cisplatin, compared to DR. On the other hand, the phosphorylation of Akt and FOXO3a, which leads to the blockade of the upregulation of MuRF1 and MAFbx, was significantly and dramatically decreased by cisplatin. These findings suggest that the administration of cisplatin increases atrophic gene expression, and may lead to an imbalance between protein synthesis and protein degradation pathways, which would lead to muscle atrophy. This phenomenon could, at least in part, explain the mechanism of cisplatin-induced muscle fatigue. - Highlights: • Cisplatin decreased mass and myofiber diameter in quadriceps muscle. • The mRNA of MAFbx, MuRF1 and FOXO3 were increased by the cisplatin. • The mRNA of myostatin and p21 were upregulated by cisplatin. • The phosphorylation of Akt and FOXO3a was decreased by cisplatin.

  16. Multiple System Atrophy Manifested by Bilateral Vocal Cord Palsy as an Initial Sign

    Directory of Open Access Journals (Sweden)

    Yuri Seo

    2015-05-01

    Full Text Available A 71-year-old male initially presented with vocal cord palsy and underwent tracheostomy. After thorough examination, urogenital dysfunction, orthostatic hypotension, and Parkinsonism were found, which led to the diagnosis of multiple system atrophy (MSA. After the tracheostomy, bi-level positive airway pressure ventilation was required during the night due to nocturnal hypoxemia. Nighttime hypoxemia is related to central sleep apnea, which is one of the manifestations of MSA. This is the first case of MSA manifested by bilateral vocal cord palsy as an initial sign in Korea. This case supports the notion that MSA should be taken into consideration when vocal cord paralysis is observed.

  17. Braille alexia during visual hallucination in a blind man with selective calcarine atrophy.

    Science.gov (United States)

    Maeda, Kengo; Yasuda, Hitoshi; Haneda, Masakazu; Kashiwagi, Atsunori

    2003-04-01

    The case of a 56-year-old man who has been blind for 25 years due to retinal degeneration is herein described. The patient complained of elementary visual hallucination, during which it was difficult for him to read Braille. Brain magnetic resonance imaging showed marked atrophy of the bilateral striate cortex. Visual hallucination as a release phenomenon of the primary visual cortex has never been reported to cause alexia for Braille. The present case supports the results of recent functional imaging studies of the recruitment of striate and prestriate cortex for Braille reading.

  18. Muscle ring finger 1 mediates cardiac atrophy in vivo

    National Research Council Canada - National Science Library

    Monte S. Willis; Mauricio Rojas; Luge Li; Craig H. Selzman; Ru-Hang Tang; William E. Stansfield; Jessica E. Rodriguez; David J. Glass; Cam Patterson

    2009-01-01

    ...; cardiac hypertrophy. We now demonstrate that therapeutic cardiac atrophy induced in patients after left ventricular assist device placement is associated with an increase in cardiac MuRF1 expression...

  19. The pathogenesis and treatment of cardiac atrophy in cancer cachexia

    National Research Council Canada - National Science Library

    Murphy, Kate T

    2016-01-01

    .... In addition to a loss of skeletal muscle mass and function, many patients with cancer cachexia also experience cardiac atrophy, remodeling, and dysfunction, which in the field of cancer cachexia...

  20. Genetics Home Reference: gyrate atrophy of the choroid and retina

    Science.gov (United States)

    ... atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and ... Criteria for Links Data Files & API Site Map Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  1. Biochemical adaptations of antigravity muscle fibers to disuse atrophy

    Science.gov (United States)

    Booth, F. W.

    1978-01-01

    Studies are presented in four parts of this report. The four parts include; (1) studies to gain information on the molecular basis of atrophy by antigravity muscle; (2) studies on the work capacity of antigravity muscles during atrophy and during recovery from atrophy; (3) studies on recovery of degenerated antigravity fibers after removal of hind-limb casts; and (4) studies on the atrophy and recovery of bone. The philosophy of these studies was to identify the time sequence of events in the soleus muscle of the rat following immobilization of the hind limbs, so that the length of the soleus muscle within the fixed limb is less than its resting length. In two separate studies, no decline in the weight of the soleus muscle could be detected during the first 72 hours of limb immobilization.

  2. Disease-Induced Skeletal Muscle Atrophy and Fatigue

    NARCIS (Netherlands)

    Powers, Scott K.; Lynch, Gordon S.; Murphy, Kate T.; Reid, Michael B.; Zijdewind, Inge

    2016-01-01

    Numerous health problems including acute critical illness, cancer, diseases associated with chronic inflammation, and neurological disorders often result in skeletal muscle weakness and fatigue. Disease-related muscle atrophy and fatigue is an important clinical problem because acquired skeletal mus

  3. Mechanisms of muscle growth and atrophy in mammals and Drosophila

    National Research Council Canada - National Science Library

    Piccirillo, Rosanna; Demontis, Fabio; Perrimon, Norbert; Goldberg, Alfred L

    2014-01-01

    .... Although the pathogenesis of this condition has been primarily studied in mammals, Drosophila is emerging as an attractive system to investigate some of the mechanisms involved in muscle growth and atrophy. Results...

  4. Abnormalities of fixation, saccade and pursuit in posterior cortical atrophy.

    Science.gov (United States)

    Shakespeare, Timothy J; Kaski, Diego; Yong, Keir X X; Paterson, Ross W; Slattery, Catherine F; Ryan, Natalie S; Schott, Jonathan M; Crutch, Sebastian J

    2015-07-01

    The clinico-neuroradiological syndrome posterior cortical atrophy is the cardinal 'visual dementia' and most common atypical Alzheimer's disease phenotype, offering insights into mechanisms underlying clinical heterogeneity, pathological propagation and basic visual phenomena (e.g. visual crowding). Given the extensive attention paid to patients' (higher order) perceptual function, it is surprising that there have been no systematic analyses of basic oculomotor function in this population. Here 20 patients with posterior cortical atrophy, 17 patients with typical Alzheimer's disease and 22 healthy controls completed tests of fixation, saccade (including fixation/target gap and overlap conditions) and smooth pursuit eye movements using an infrared pupil-tracking system. Participants underwent detailed neuropsychological and neurological examinations, with a proportion also undertaking brain imaging and analysis of molecular pathology. In contrast to informal clinical evaluations of oculomotor dysfunction frequency (previous studies: 38%, current clinical examination: 33%), detailed eyetracking investigations revealed eye movement abnormalities in 80% of patients with posterior cortical atrophy (compared to 17% typical Alzheimer's disease, 5% controls). The greatest differences between posterior cortical atrophy and typical Alzheimer's disease were seen in saccadic performance. Patients with posterior cortical atrophy made significantly shorter saccades especially for distant targets. They also exhibited a significant exacerbation of the normal gap/overlap effect, consistent with 'sticky fixation'. Time to reach saccadic targets was significantly associated with parietal and occipital cortical thickness measures. On fixation stability tasks, patients with typical Alzheimer's disease showed more square wave jerks whose frequency was associated with lower cerebellar grey matter volume, while patients with posterior cortical atrophy showed large saccadic intrusions

  5. Reversible "brain atrophy" in patients with Cushing's disease

    OpenAIRE

    Gnjidić, Živko; Sajko, Tomislav; Kudelić, Nenad; Malenica, Maša; Vizner, Branka; Vrkljan, Milan; Hat, Josip; Rumboldt, Zoran

    2008-01-01

    During the past 25 years, we came across 60 patients with corticotroph pituitary adenomas and Cushing’s disease. Neuroradiological examination showed prominent volume loss of the brain parenchyma, unexpected for the patient’s age. This »brain atrophy« appeared to regress after surgical removal of pituitary adenoma and normalization of cortisol level. Observed difference between degree of »brain atrophy« in the Cushing’s disease group and in the control group was statistically sign...

  6. Early and Degressive Putamen Atrophy in Multiple Sclerosis

    OpenAIRE

    Julia Krämer; Meuth, Sven G.; Jan-Gerd Tenberge; Patrick Schiffler; Heinz Wiendl; Michael Deppe

    2015-01-01

    Putamen atrophy and its long-term progress during disease course were recently shown in patients with multiple sclerosis (MS). Here we investigated retrospectively the time point of atrophy onset in patients with relapsing-remitting MS (RRMS). 68 patients with RRMS and 26 healthy controls (HC) were admitted to 3T MRI in a cross-sectional study. We quantitatively analyzed the putamen volume of individual patients in relation to disease duration by correcting for age and intracranial volume (IC...

  7. The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Babak Soltani

    2011-09-01

    Full Text Available ObjectiveA 4-month-old female with osteogenesis imperfecta (OI type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. Due to severe hypotonia, NCV and EMG were performed, and spinal muscular atrophy (SMA type I was diagnosed.Keywords: Osteogenesis imperfecta; spinal muscular atrophy; hypotonia

  8. Crossed cerebro-cerebellar atrophy with Dyke Davidoff Masson syndrome.

    Science.gov (United States)

    Algahtani, Hussein A; Aldarmahi, Ahmed A; Al-Rabia, Mohammed W; Young, G Bryan

    2014-01-01

    Dyke Davidoff Masson syndrome (DDMS) refers to atrophy or hypoplasia of one cerebral hemisphere following a prior fetal or childhood insult. It has characteristics of clinical and radiological changes. These changes include hemiparesis, seizures, facial-asymmetry, and mental retardation. We present a 25-year-old man with crossed cerebrocerebellar atrophy and DDMS. His seizures were well controlled using a combination of antiepileptic drugs.

  9. Type II muscle fibers atrophy associated with silent corticotroph adenoma in a dog.

    Directory of Open Access Journals (Sweden)

    L Insabato

    2010-11-01

    Full Text Available The Silent Corticotroph Adenoma (SCA is a pituitary adenoma variant characterized by the immunoreactivity for adrenocorticotropic hormone (ACTH and related peptides, without the clinical signs of Cushing's disease. SCA has been postulated to either secrete structurally abnormal ACTH that is inactive but detectable by immunohistochemistry or radioimmunoassay, or to secrete ACTH intermittently or at low levels continuously. Excess of ACTH has been associated to type II muscle atrophy. We describe a case of type II muscle fibers atrophy associated with silent corticotroph adenoma in a dog. The dog showed moderate to severe proximal muscle wasting and weakness with normal levels of muscle-associated enzymes. In the limb muscle biopsies, type II fibers were uniformly smaller than type I fibers. In temporalis muscles, there were few atrophic fibers, and several irregular areas of loss of enzymatic activity observed in NADH, SDH and COX stains. The tumour showed a trabecular growth pattern and immunohistochemical analysis demonstrated the presence of cytoplasmic immunoreactivity for ACTH. The muscle atrophy was considered to be related to an excess of inactive ACTH. Studying spontaneous occurring rare diseases in animals could help to understand the mechanism of similar diseases in human has well.

  10. Facio-auricular vertebral syndrome-a case report

    Directory of Open Access Journals (Sweden)

    Reddy M

    2005-01-01

    Full Text Available Facio Auricular Vertebral (FAV or Goldenhar syndrome is a very rare kind of syndromic deafness and is inherited as autosomal dominant. A study was taken up to understand the prevalence of this syndrome in children below the age of 14 years with hearing loss. Out of 1073 children with hearing impairment, Goldenhar syndrome was observed only in 1 (0.09% case. The child suffered severe hearing loss. Facial paralysis and hemifacial microsomia were prominent features observed in the child. Facio-Auricular-Vertebral syndrome is therefore synonymously used with Goldenhar syndrome.

  11. Transmission of multiple system atrophy prions to transgenic mice.

    Science.gov (United States)

    Watts, Joel C; Giles, Kurt; Oehler, Abby; Middleton, Lefkos; Dexter, David T; Gentleman, Steve M; DeArmond, Stephen J; Prusiner, Stanley B

    2013-11-26

    Prions are proteins that adopt alternative conformations, which become self-propagating. Increasing evidence argues that prions feature in the synucleinopathies that include Parkinson's disease, Lewy body dementia, and multiple system atrophy (MSA). Although TgM83(+/+) mice homozygous for a mutant A53T α-synuclein transgene begin developing CNS dysfunction spontaneously at ∼10 mo of age, uninoculated TgM83(+/-) mice (hemizygous for the transgene) remain healthy. To determine whether MSA brains contain α-synuclein prions, we inoculated the TgM83(+/-) mice with brain homogenates from two pathologically confirmed MSA cases. Inoculated TgM83(+/-) mice developed progressive signs of neurologic disease with an incubation period of ∼100 d, whereas the same mice inoculated with brain homogenates from spontaneously ill TgM83(+/+) mice developed neurologic dysfunction in ∼210 d. Brains of MSA-inoculated mice exhibited prominent astrocytic gliosis and microglial activation as well as widespread deposits of phosphorylated α-synuclein that were proteinase K sensitive, detergent insoluble, and formic acid extractable. Our results provide compelling evidence that α-synuclein aggregates formed in the brains of MSA patients are transmissible and, as such, are prions. The MSA prion represents a unique human pathogen that is lethal upon transmission to Tg mice and as such, is reminiscent of the prion causing kuru, which was transmitted to chimpanzees nearly 5 decades ago.

  12. Iritis and iris atrophy after eyebrow epilation with alexandrite laser

    Directory of Open Access Journals (Sweden)

    Elkin Z

    2011-12-01

    Full Text Available Zachary Elkin1, Milan P Ranka1, Eleanore T Kim1, Ronit Kahanowicz1, Wayne G Whitmore21Department of Ophthalmology, New York University; 2Department of Ophthalmology, New York Presbyterian Hospital, Weill Cornell Medical College, New York, NY, USAPurpose: To report a case of bilateral iritis and transillumination defects after laser hair removal of the eyebrows with an alexandrite laser.Methods: A 41-year-old male presented with bilateral eye pain and mild photophobia 2 days after receiving alexandrite (755 nm laser epilation of both eyebrows. Examination showed visual acuity of 20/20 in both eyes, 2+ conjunctival injection in both eyes, 1+ cells in the anterior chamber of right eye and trace cells in left eye, poor right pupil dilation, and left pupil without movement. Intraocular pressure and fundus examination were normal. He was diagnosed with iritis and iris atrophy, associated with laser epilation. Topical steroids and cycloplegic drops were prescribed for 1 month.Results: After 1 month of treatment, transillumination defects remained in both eyes, but greater in right. In dim light, the right pupil was 4 mm and oval and the left pupil was 6 mm and round. Visual acuity remained 20/20 in both eyes.Conclusion: Laser hair removal of the eyebrows can lead to permanent ocular damage even with eye protection, and should be avoided.Keywords: laser hair removal, transillumination defects, alexandrite laser

  13. A genome-wide association study in multiple system atrophy

    Science.gov (United States)

    Sailer, Anna; Nalls, Michael A.; Schulte, Claudia; Federoff, Monica; Price, T. Ryan; Lees, Andrew; Ross, Owen A.; Dickson, Dennis W.; Mok, Kin; Mencacci, Niccolo E.; Schottlaender, Lucia; Chelban, Viorica; Ling, Helen; O'Sullivan, Sean S.; Wood, Nicholas W.; Traynor, Bryan J.; Ferrucci, Luigi; Federoff, Howard J.; Mhyre, Timothy R.; Morris, Huw R.; Deuschl, Günther; Quinn, Niall; Widner, Hakan; Albanese, Alberto; Infante, Jon; Bhatia, Kailash P.; Poewe, Werner; Oertel, Wolfgang; Höglinger, Günter U.; Wüllner, Ullrich; Goldwurm, Stefano; Pellecchia, Maria Teresa; Ferreira, Joaquim; Tolosa, Eduardo; Bloem, Bastiaan R.; Rascol, Olivier; Meissner, Wassilios G.; Hardy, John A.; Revesz, Tamas; Holton, Janice L.; Gasser, Thomas; Wenning, Gregor K.; Singleton, Andrew B.

    2016-01-01

    Objective: To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS). Methods: We performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed. Results: We found no significant loci after stringent multiple testing correction. A number of regions emerged as potentially interesting for follow-up at p < 1 × 10−6, including SNPs in the genes FBXO47, ELOVL7, EDN1, and MAPT. Contrary to previous reports, we found no association of the genes SNCA and COQ2 with MSA. Conclusions: We present a GWAS in MSA. We have identified several potentially interesting gene loci, including the MAPT locus, whose significance will have to be evaluated in a larger sample set. Common genetic variation in SNCA and COQ2 does not seem to be associated with MSA. In the future, additional samples of well-characterized patients with MSA will need to be collected to perform a larger MSA GWAS, but this initial study forms the basis for these next steps. PMID:27629089

  14. "Apperceptive" alexia in posterior cortical atrophy.

    Science.gov (United States)

    Mendez, Mario F; Shapira, Jill S; Clark, David G

    2007-02-01

    The most common presenting complaint in posterior cortical atrophy (PCA) is reading difficulty. Although often described as an alexia without agraphia, alexia in PCA may have multiple causes, including a primary visuoperceptual etiology, attentional alexia, and central reading difficulty. This study evaluated 14 patients with early PCA and disturbances in reading ability in comparison to 14 normal controls. All 14 patients had a progressive disorder of complex visual functions and neuroimaging evidence of occipitoparietal dysfunction. They underwent a task requiring identification of single letters with and without flanking distractors. They also read single words consisting of regular English spelling or irregular grapheme-phoneme correspondence (irregular words) and pronounceable nonsense words (pseudowords). The PCA patients made errors in letter identification when letters were flanked by visually similar letters or numbers. They could read most single regular and irregular words but made visual errors and had particular trouble with pseudowords. They could not use a letter-by-letter reading strategy effectively. The PCA patients had similar difficulties on other visuoperceptual tests. These findings are consistent with an alexia manifested by perceptual and attentional difficulty on attempting serial visual processing of letters in the context of other letters. This "apperceptive alexia" results when the configuration of letters into words is impaired during letter-by-letter reading. Disproportionate difficulty reading pseudowords suggests an additional impairment in phonological processing. PCA patients have variable neuropathology and individual patients may have other contributions to their reading impairment.

  15. Spinal Muscular Atrophy: Current Therapeutic Strategies

    Science.gov (United States)

    Kiselyov, Alex S.; Gurney, Mark E.

    Proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by death of motor neurons in the spinal cord. SMA is caused by deletion and/or mutation of the survival motor neuron gene (SMN1) on chromosome 5q13. There are variable numbers of copies of a second, related gene named SMN2 located in the proximity to SMN1. Both genes encode the same protein (Smn). Loss of SMN1 and incorrect splicing of SMN2 affect cellular levels of Smn triggering death of motor neurons. The severity of SMA is directly related to the normal number of copies of SMN2 carried by the patient. A considerable effort has been dedicated to identifying modalities including both biological and small molecule agents that increase SMN2 promoter activity to upregulate gene transcription and produce increased quantities of full-length Smn protein. This review summarizes recent progress in the area and suggests potential target product profile for an SMA therapeutic.

  16. Forced oscillation technique in spinal muscular atrophy.

    Science.gov (United States)

    Gauld, Leanne M; Keeling, Lucy A; Shackleton, Claire E; Sly, Peter D

    2014-09-01

    Spinal muscular atrophy (SMA) causes respiratory compromise that is difficult to assess in young children. The forced oscillation technique (FOT) is commercially available for children as young as 2 years of age and is nonvolitional. The aim of this study was to assess the usefulness of FOT in young children with SMA. Children with SMA aged resistance at 8 Hz (Rrs8) (mean z score, +0.66; SD, 1.34; P = .12) were abnormal. Four children performed spirometry. Linear relationships to Xrs8 exist: FVC (R2, 0.54), unassisted PCF (R2, 0.33), assisted PCF (R2, 0.43), and AHI (R2, 0.32). Over 12 months, Xrs8z score worsened (rate of change of +1.08, P change +0.51, P .05) was found between clinical characteristics and FOT values. FOT is feasible in young children with SMA, with abnormal values of reactance and resistance on grouped data, worsening over 12 months. Xrs8 is related to respiratory tests used to monitor progress in SMA (FVC, PCF, AHI). Further research on the value of FOT in managing individuals is warranted.

  17. Association of FAS (TNFRSF6)-670 gene polymorphism with villous atrophy in coeliac disease

    Institute of Scientific and Technical Information of China (English)

    Jing Wu; BZ Alizadeh; TV Veen; JWR Meijer; CJJ Mulder; AS Pe(n)a

    2004-01-01

    AIM: To investigate the association of FAlSgene polymorphism with coeliac disease (CD) development.METHODS: FAS-G670A gene polymorphism, located in a gamma interferon activation site, was studied in 146 unrelated CD patients and 203 healthy ethnically matched controls. The restriction fragment length polymorphism (RFLP) method was used to identify FAS-G670A gene polymorphism.RESULTS: No significant difference was found in genotype frequency between CD cases and controls. In controls,however, the frequency of the GGgenotype was significantly higher in women (26.5%) than in men (12.8%) (OR= 2.44,95% CI1.15-5.20, P=0.020) and it was also higher in men with CD than controls (OR=2.60, 95% C70.96-7.05, P=0.061).The GG genotype frequency was significantly higher in patients with most severe villous atrophy (Marsh IIIc lesions)(OR=3.74, 95% CI 1.19-11.82, P=0.025). A significantly less proportion of men suffered from Marsh IIIc lesions than women (OR=0.20, 95% CI0.06-0.68, P=0.01). The risk of having severe villous atrophy increased with the additive effect of the Gallele in women (P=0.027 for trend, age and gender adjusted).CONCLUSION: FAS-G670A gene polymorphism is associated with the severity of villous atrophy in CD. Female gender is also associated with the severity of villous atrophy.

  18. "THE RELATION OF HYPERHOMOCYSTEINEMIA TO COGNITIVE FUNCTION AND BRAIN ATROPHY IN PATIENTS WITH MULTIPLE SCLEROSIS "

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    M. Ghaffarpour

    2007-06-01

    Full Text Available Cognitive impairment may be a common even at the onset of multiple sclerosis (MS. In this case-control study, we tried to find out the probable relationship between homocysteine levels and cerebral atrophy or cognitive impairment in patients with multiple sclerosis. One hundred fifty six patients who had MS according to McDonald diagnostic criteria were included in this study. Patients’ age, gender, and educational level, MS duration and clinical type, disability, cognitive function state based on minimental state examination (MMSE, presence of hyperhomocysteinemia, and brain atrophy were evaluated. There was no statistically significant relationship between hyperhomocysteinemia and cognitive status. Total homocysteine levels had a significant correlation with MMSE score only in those patients with elementary level of education. Also total homocysteine levels and overall cerebral atrophy did not indicate significant relationship according to those independent variables mentioned above except in the patients with EDSS less than 6. When intercaudate ratio > 0.10 was applied as a criterion for cerebral atrophy, we found that hyperhomocysteinemia related significantly to intercaudate ratio > 0.10 in females, aged between 21 and 30 years, MS duration ≤ 5 years, primary progressive MS and relapsing-remitting MS clinical types, EDSS ≤ 3 and elementary level of education. We suggest applying MMSE only for the first step of cognitive function survey. In the next steps, much more exact test must be used (e.g. MSNQ. Also we can not suggest measuring plasma homocysteine level as criterion for monitoring the cognitive function in patients with MS.

  19. Descompresión microvascular para el espasmo hemifacial 10 años de experiencia en el Instituto Nacional de Neurología y Neurocirugía

    OpenAIRE

    Arvizú Saldaña,Emiliano; Vales Hidalgo,Olivia; Hinojosa,Ramón; Reyes Moreno,Ignacio

    2004-01-01

    El espasmo hemifacial se caracteriza por contracciones paroxísticas e involuntarias de los músculos de expresión facial, es más frecuente en el lado izquierdo y en mujeres. Tiene un carácter progresivo y rara vez presenta regresión espontánea. Su manejo incluye el tratamiento medicamentoso, la inyección de toxina botulínica y la descompresión microvascular del nervio. Material y métodos: presentamos los resultados de 116 descompresiones microvasculares realizadas en 88 pacientes en los último...

  20. 牵张成骨对半侧颜面发育不全患者颌骨生长的影响%The Effects of Distraction Osteogenesis on Jaw Development in Hemifacial Microsomia Patients

    Institute of Scientific and Technical Information of China (English)

    姜文辉; 王旭东

    2008-01-01

    半侧颜面发育不全(hemifacial microsomia,HM)的发生率为1/5000[1]。又称为半侧小颜面畸形、Goldenhar综合征、第一和第二鳃弓综合征(the first and second arch syndrome)、眼-耳-脊柱发育不良(oculo-ariculo-vertebral spectrum)等[2]。HM是一种临床表现多样、进展性的、不对称性的颅面部畸形。

  1. Calculation of brain atrophy using computed tomography and a new atrophy measurement tool

    Science.gov (United States)

    Bin Zahid, Abdullah; Mikheev, Artem; Yang, Andrew Il; Samadani, Uzma; Rusinek, Henry

    2015-03-01

    Purpose: To determine if brain atrophy can be calculated by performing volumetric analysis on conventional computed tomography (CT) scans in spite of relatively low contrast for this modality. Materials & Method: CTs for 73 patients from the local Veteran Affairs database were selected. Exclusion criteria: AD, NPH, tumor, and alcohol abuse. Protocol: conventional clinical acquisition (Toshiba; helical, 120 kVp, X-ray tube current 300mA, slice thickness 3-5mm). Locally developed, automatic algorithm was used to segment intracranial cavity (ICC) using (a) white matter seed (b) constrained growth, limited by inner skull layer and (c) topological connectivity. ICC was further segmented into CSF and brain parenchyma using a threshold of 16 Hu. Results: Age distribution: 25-95yrs; (Mean 67+/-17.5yrs.). Significant correlation was found between age and CSF/ICC(r=0.695, patrophy among elderly VA patients is attributable to the presence of other comorbidities. Conclusion: Brain atrophy can be reliably calculated using automated software and conventional CT. Compared to MRI, CT is more widely available, cheaper, and less affected by head motion due to ~100 times shorter scan time. Work is in progress to improve the precision of the measurements, possibly leading to assessment of longitudinal changes within the patient.

  2. Muscle atrophy reversed by growth factor activation of satellite cells in a mouse muscle atrophy model.

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    Simon Hauerslev

    Full Text Available Muscular dystrophies comprise a large group of inherited disorders that lead to progressive muscle wasting. We wanted to investigate if targeting satellite cells can enhance muscle regeneration and thus increase muscle mass. We treated mice with hepatocyte growth factor and leukemia inhibitory factor under three conditions: normoxia, hypoxia and during myostatin deficiency. We found that hepatocyte growth factor treatment led to activation of the Akt/mTOR/p70S6K protein synthesis pathway, up-regulation of the myognic transcription factors MyoD and myogenin, and subsequently the negative growth control factor, myostatin and atrophy markers MAFbx and MuRF1. Hypoxia-induced atrophy was partially restored by hepatocyte growth factor combined with leukemia inhibitory factor treatment. Dividing satellite cells were three-fold increased in the treatment group compared to control. Finally, we demonstrated that myostatin regulates satellite cell activation and myogenesis in vivo following treatment, consistent with previous findings in vitro. Our results suggest, not only a novel in vivo pharmacological treatment directed specifically at activating the satellite cells, but also a myostatin dependent mechanism that may contribute to the progressive muscle wasting seen in severely affected patients with muscular dystrophy and significant on-going regeneration. This treatment could potentially be applied to many conditions that feature muscle wasting to increase muscle bulk and strength.

  3. Visual neglect in posterior cortical atrophy

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    Andrade Katia

    2010-08-01

    Full Text Available Abstract Background In posterior cortical atrophy (PCA, there is a progressive impairment of high-level visual functions and parietal damage, which might predict the occurrence of visual neglect. However, neglect may pass undetected if not assessed with specific tests, and might therefore be underestimated in PCA. In this prospective study, we aimed at establishing the side, the frequency and the severity of visual neglect, visual extinction, and primary visual field defects in an unselected sample of PCA patients. Methods Twenty-four right-handed PCA patients underwent a standardized battery of neglect tests. Visual fields were examined clinically by the confrontation method. Results Sixteen of the 24 patients (66% had signs of visual neglect on at least one test, and fourteen (58% also had visual extinction or hemianopia. Five patients (21% had neither neglect nor visual field defects. As expected, left-sided neglect was more severe than right-sided neglect. However, right-sided neglect resulted more frequently in this population (29% than in previous studies on focal brain lesions. Conclusion When assessed with specific visuospatial tests, visual neglect is frequent in patients with PCA. Diagnosis of neglect is important because of its negative impact on daily activities. Clinicians should consider the routine use of neglect tests to screen patients with high-level visual deficits. The relatively high frequency of right-sided neglect in neurodegenerative patients supports the hypothesis that bilateral brain damage is necessary for right-sided neglect signs to occur, perhaps because of the presence in the right hemisphere of crucial structures whose damage contributes to neglect.

  4. P型多系统萎缩的MRI表现%MRI Features of Multiple System Atrophy P Type

    Institute of Scientific and Technical Information of China (English)

    邝岚琼; 王小宜; 邢妩; 廖伟华; 谢芳芳; 那伟

    2012-01-01

    Objective To analyze the MRI features of the multiple system atrophy ( MSA) P,in order to provide ima-geology basis for clinical diagnosis. Materials and Methods MRI findings in 9 patients with MSA P type( parkinsonism in dominant multiple system atrophy) in XiangYa Hospital were analyzed retrospectively. Results Of 9 patients, 6 had abnormal findings in putamen, 4 had putamen atrophy, 2 had the long T2 signal of the putamen edge ( fissure sign) , and 3 had the putamen diffuse little long T1 & T2 signals, and 4 had the very long T, & very short T2 signals in outer back of putamen. Moreover, among these 6 patients, there was one case merely featured in the putamen atrophy and one in the very long T1 & very short T2 signal in the outer back of putamen, and the other 4 cases were found the abnormal changes in a variety of core shell overlap there. There were 5 cases of brain stem abnormalities, one with cross sign, and four with the whole brain stem atrophy (two were found the little long T1 & T2 signal concerning symmetry of the cerebellum feet). Hemisphere abnormalities were found in 3 cases, 3 cases of them were the atrophy of both bilateral frontal temporal parietal oc-cipitals, 2 cases atrophy of bilateral frontal lobes. Cerebellar hemisphere atrophy was found in two cases. Cross sign was found in late MSA P type,and FLAIR sequences facilitate the detection of abnormal signal. Conclusion MRI facilitates the clinical diagnosis of MSA P type.%目的 分析P型多系统萎缩(multiple system atrophy,MSA)的MRI特征,为临床诊断提供影像学依据.资料与方法 回顾性分析经临床诊断为MSA-P型9例患者的常规MRI资料.结果 9例中,6例壳核有异常发现,其中壳核萎缩4例,壳核边缘长T2信号(裂隙征)2例,壳核弥漫性稍长T1、稍长T2信号3例,壳核后外侧极长T1、极短T2信号4例.6例中,单纯表现为壳核萎缩及壳核后外侧极长T1、极短T2信号各1例,余4例为多种壳核异常改变重叠出现.5例脑

  5. Neural correlates of cognitive impairment in posterior cortical atrophy.

    Science.gov (United States)

    Kas, Aurélie; de Souza, Leonardo Cruz; Samri, Dalila; Bartolomeo, Paolo; Lacomblez, Lucette; Kalafat, Michel; Migliaccio, Raffaella; Thiebaut de Schotten, Michel; Cohen, Laurent; Dubois, Bruno; Habert, Marie-Odile; Sarazin, Marie

    2011-05-01

    With the prospect of disease-modifying drugs that will target the physiopathological process of Alzheimer's disease, it is now crucial to increase the understanding of the atypical focal presentations of Alzheimer's disease, such as posterior cortical atrophy. This study aimed to (i) characterize the brain perfusion profile in posterior cortical atrophy using regions of interest and a voxel-based approach; (ii) study the influence of the disease duration on the clinical and imaging profiles; and (iii) explore the correlations between brain perfusion and cognitive deficits. Thirty-nine patients with posterior cortical atrophy underwent a specific battery of neuropsychological tests, mainly targeting visuospatial functions, and a brain perfusion scintigraphy with 99mTc-ethyl cysteinate dimer. The imaging analysis included a comparison with a group of 24 patients with Alzheimer's disease, matched for age, disease duration and Mini-Mental State Examination, and 24 healthy controls. The single-photon emission computed tomography profile in patients with posterior cortical atrophy was characterized by extensive and severe hypoperfusion in the occipital, parietal, posterior temporal cortices and in a smaller cortical area corresponding to the frontal eye fields (Brodmann areas 6/8). Compared with patients with Alzheimer's disease, the group with posterior cortical atrophy showed more severe occipitoparietal hypoperfusion and higher perfusion in the frontal, anterior cingulate and mesiotemporal regions. When considering the disease duration, the functional changes began and remained centred on the posterior lobes, even in the late stage. Correlation analyses of brain perfusion and neuropsychological scores in posterior cortical atrophy highlighted the prominent role of left inferior parietal damage in acalculia, Gerstmann's syndrome, left-right indistinction and limb apraxia, whereas damage to the bilateral dorsal occipitoparietal regions appeared to be involved in B

  6. Evaluation of the progression rate of atrophy lesions in punctate inner choroidopathy (PIC) based on autofluorescence analysis.

    Science.gov (United States)

    Hua, Rui; Liu, Limin; Chen, Lei

    2014-12-01

    To investigate the autofluorescence (AF) characteristics of punctate inner choroidopathy (PIC) and to evaluate the progression rate of retinal pigment epithelium (RPE) atrophy lesions in PIC using confocal scanning laser ophthalmoscopy. Twenty-two eyes of 14 PIC cases and 21 eyes of 21 non-proliferative diabetic retinopathy (NPDR) cases which received retinal coagulation as a control group were enrolled in this study. Enhanced depth imaging optical coherence tomography (EDI-OCT) and AF were recorded from all patients at 18 months follow-up. The RPE atrophy areas of PIC and laser scars in NPDR were analyzed using the Region Finder software of the Heidelberg Eye Explorer. This software allows direct export of AF images from the database and semi-automated detection of atrophic areas by shadow correction, vessel detection, and selection of seed points. At baseline, both hyperfluorescence and hypofluorescence were observed in the lesions of PIC eyes with a focal elevation of RPE and corresponding disruption of the ellipsoid region of the inner segment ellipsoid zone (EZ). In contrast, hypo-AF was detected when there was a lack of RPE. The mean progression rate of RPE atrophy in PIC and NPDR were 3.735 mm(2)/year (0.056-0.545) and 0.127 mm(2)/year (0.015-0.466), respectively. Compared with the atrophy area in the last visit, the progression rate in PIC was significantly greater than that in NPDR (Z=5.615, P<0.0001). The results of AF reflect the status of PIC and the progression rate of RPE atrophy in PIC, which can be used to predict the progress of PIC noninvasively. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. CLINICAL AND RADIOGRAPHIC FEATURES OF PARRY-ROMBERG SYNDROME

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    Mithula NAIR

    2017-10-01

    Full Text Available Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months. Despite almost complete involvement of the right paramedian area and the early age of onset, she had neither eye changes nor any dental malformations.

  8. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.

    Science.gov (United States)

    Takeuchi, Akihito; Okamoto, Nobuhiko; Fujinaga, Shoko; Morita, Hirosuke; Shimizu, Junya; Akiyama, Tomoyuki; Ninomiya, Shinsuke; Takanashi, Jun-ichi; Kubo, Toshihide

    2015-08-01

    Schinzel-Giedion syndrome is a rare congenital malformation syndrome. Recently, SETBP1 was identified as the causative gene. Herein, we present a Japanese boy with Schinzel-Giedion syndrome resulting from a novel mutation in SETBP1 in order to establish the clinical features and serial MRI findings associated with the syndrome. On the third day of life, the boy was referred to our hospital because of facial abnormalities and feeding difficulty. Midfacial retraction, frontal bossing, deep groove under the eyes, upturned nose, low-set ears, bilateral cryptorchidism, and generalized hypertrichosis were identified on admission. At the age of 7 months, epileptic spasms in series occurred. Based on characteristic facial and skeletal abnormalities and severe developmental delay, we clinically diagnosed him with Schinzel-Giedion syndrome. Direct sequencing of the SETBP1 gene revealed a heterozygous mutation (p.Ile871Ser) in exon 4. Although neither cardiac defect nor choanal stenosis were present in our case, the phenotype of our case was nearly identical to those of previously reported cases confirmed by genetic analysis. Serial MRI from the age of 1 month-3 years revealed progressive brain atrophy, especially in the white matter and basal ganglia. However, myelination was age-appropriate and no obvious abnormal signals in the white matter were seen. Diffusion weighted imaging revealed no abnormal findings. Accumulation of MRI data including diffusion weighted imaging from Schinzel-Giedion syndrome cases is needed to understand the mechanism underlying progressive brain atrophy in this syndrome.

  9. Application effect of hyperbaric oxygen in the patients with optic atrophy and influence for the hemodynamic parameters

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    Kun Zhang

    2015-01-01

    Full Text Available AIM: To observe the application effect of hyperbaric oxygen in the patients with optic atrophy and influence degree for the hemodynamic parameters.METHODS: Fifty patients with optic atrophy in our hospital from January 2012 to January 2014 were objected, they were randomly divided into control group(conventional optic atrophy treatment groupand observation group(conventional treatment and hyperbaric oxygen treatment group, each group was 25 cases. Statistical analysis of two group before and after treatment eyesight, vision acuity, visual field defect and ophthalmic artery, central retinal artery blood flow parameters were undergone.RESULTS: The sight, visual field sensitivity and field vision defect of observation group were all better than those of control group at first, second and third course after the treatment, arteriae ophthalmica and arteriae centralis retinae EDV and PSV were all higher than those of control group, PI and RI were all lower than those of control group were all significant differences(PCONCLUSION: The application effect of hyperbaric oxygen in the patients with optic atrophy is better, and the influence of treatment method for the ocular hemodynamic parameters are more active.

  10. Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.

    Science.gov (United States)

    Luan, Xinghua; Huang, Xiaojun; Liu, Xiaoli; Zhou, Haiyan; Chen, Shengdi; Cao, Li

    2016-08-01

    Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal muscular atrophy 1 (DSMA1) or distal hereditary motor neuropathies type 6 (dHMN6), is a rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, distal muscular weakness and muscle atrophy. The disease is caused by mutations in the gene encoding immunoglobulinm-binding protein 2 (IGHMBP2). We present a female child with novel compound heterozygous mutations in IGHMBP2 gene c.344C>T (p.115T>M) and c.1737C>A (p.579F>L), displaying distal limbs weakness and atrophy without signs of diaphragmatic palsy or respiratory insufficiency. We review 20 reported SMARD1 cases that have no respiratory involvement or have late onsets. We propose that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity. Diaphragmatic palsy and respiratory distress may be absent and SMARD1 should be considered in infantile with the onset of peripheral neuropathies.

  11. Craniofacial abnormalities in goldenhar syndrome: a case report with review of the literature

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    Ramesh Kumaresan

    2014-12-01

    Full Text Available Goldenhar syndrome (oculo-auriculo-vertebral spectrum is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia, auricular, ocular and vertebral anomalies. In many cases, this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies. Herewith, we present a case of Goldenhar syndrome in a 21-year-old male, who presented all the classical signs of this rare condition. This article also summarizes the characteristic features of patients with Goldenhar syndrome

  12. Expression of atrophy-related transcription factors in the process of intrinsic laryngeal muscle atrophy after denervation.

    Science.gov (United States)

    Sei, Hirofumi; Taguchi, Aki; Nishida, Naoya; Hato, Naohito; Gyo, Kiyofumi

    2015-01-01

    We examined changes in the expressions of three atrophy-related transcription factors (FOXO3a, P-FOXO3a, and PGC-1α) in the process of intrinsic laryngeal muscle atrophy after denervation. In total, 51 Wistar rats were used. After transection of the unilateral recurrent laryngeal nerve, the thyroarytenoid (TA) muscle and the posterior cricoarytenoid (PCA) muscle were excised and subjected to histological and Western blot studies. Relationships between the expressions of transcription factors during atrophy of the intrinsic laryngeal muscles were investigated by comparing the results of the treated side (T) with those of the untreated side (U), and sequential changes in the T/U ratio after denervation were assessed. Loss of wet muscle weight, together with a decrease in muscle fiber cross-sectional area and increase in the number of muscle fibers/mm(2), occurred more quickly in TA muscle than in PCA muscle. Muscle atrophy progressed rapidly between 7 and 28 days after denervation, while expression of FOXO3a was maximal on day 7, in both TA and PCA muscles. By contrast, P-FOXO3a expression decreased gradually after denervation. Expression of PGC-1α increased slowly until day 7, and then it declined. Denervation-induced atrophy of the intrinsic laryngeal muscles was closely linked with the expression of FOXO3a and PGC-1α, suggesting that atrophy of these muscles may involve the actions of these transcription factors. In addition, muscle atrophy progressed faster in TA muscle than in PCA muscle, due mainly to differences in muscle fiber composition.

  13. Early and Degressive Putamen Atrophy in Multiple Sclerosis.

    Science.gov (United States)

    Krämer, Julia; Meuth, Sven G; Tenberge, Jan-Gerd; Schiffler, Patrick; Wiendl, Heinz; Deppe, Michael

    2015-09-25

    Putamen atrophy and its long-term progress during disease course were recently shown in patients with multiple sclerosis (MS). Here we investigated retrospectively the time point of atrophy onset in patients with relapsing-remitting MS (RRMS). 68 patients with RRMS and 26 healthy controls (HC) were admitted to 3T MRI in a cross-sectional study. We quantitatively analyzed the putamen volume of individual patients in relation to disease duration by correcting for age and intracranial volume (ICV). Patient's relative putamen volume (RPV), expressed in percent of ICV, was significantly reduced compared to HC. Based on the correlation between RPV and age, we computed the age-corrected RPV deviation (ΔRPV) from HC. Patients showed significantly negative ΔRPV. Interestingly, the age-corrected ΔRPV depended logarithmically on disease duration: Directly after first symptom manifestation, patients already showed a reduced RPV followed by a further degressive volumetric decline. This means that atrophy progression was stronger in the first than in later years of disease. Putamen atrophy starts directly after initial symptom manifestation or even years before, and progresses in a degressive manner. Due to its important role in neurological functions, early detection of putamen atrophy seems necessary. High-resolution structural MRI allows monitoring of disease course.

  14. Early and Degressive Putamen Atrophy in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Julia Krämer

    2015-09-01

    Full Text Available Putamen atrophy and its long-term progress during disease course were recently shown in patients with multiple sclerosis (MS. Here we investigated retrospectively the time point of atrophy onset in patients with relapsing-remitting MS (RRMS. 68 patients with RRMS and 26 healthy controls (HC were admitted to 3T MRI in a cross-sectional study. We quantitatively analyzed the putamen volume of individual patients in relation to disease duration by correcting for age and intracranial volume (ICV. Patient’s relative putamen volume (RPV, expressed in percent of ICV, was significantly reduced compared to HC. Based on the correlation between RPV and age, we computed the age-corrected RPV deviation (ΔRPV from HC. Patients showed significantly negative ΔRPV. Interestingly, the age-corrected ΔRPV depended logarithmically on disease duration: Directly after first symptom manifestation, patients already showed a reduced RPV followed by a further degressive volumetric decline. This means that atrophy progression was stronger in the first than in later years of disease. Putamen atrophy starts directly after initial symptom manifestation or even years before, and progresses in a degressive manner. Due to its important role in neurological functions, early detection of putamen atrophy seems necessary. High-resolution structural MRI allows monitoring of disease course.

  15. Astaxanthin intake attenuates muscle atrophy caused by immobilization in rats.

    Science.gov (United States)

    Shibaguchi, Tsubasa; Yamaguchi, Yusuke; Miyaji, Nobuyuki; Yoshihara, Toshinori; Naito, Hisashi; Goto, Katsumasa; Ohmori, Daijiro; Yoshioka, Toshitada; Sugiura, Takao

    2016-08-01

    Astaxanthin is a carotenoid pigment and has been shown to be an effective inhibitor of oxidative damage. We tested the hypothesis that astaxanthin intake would attenuate immobilization-induced muscle atrophy in rats. Male Wistar rats (14-week old) were fed for 24 days with either astaxanthin or placebo diet. After 14 days of each experimental diet intake, the hindlimb muscles of one leg were immobilized in plantar flexion position using a plaster cast. Following 10 days of immobilization, both the atrophic and the contralateral plantaris muscles were removed and analyzed to determine the level of muscle atrophy along with measurement of the protein levels of CuZn-superoxide dismutase (CuZn-SOD) and selected proteases. Compared with placebo diet animals, the degree of muscle atrophy in response to immobilization was significantly reduced in astaxanthin diet animals. Further, astaxanthin supplementation significantly prevented the immobilization-induced increase in the expression of CuZn-SOD, cathepsin L, calpain, and ubiquitin in the atrophied muscle. These results support the postulate that dietary astaxanthin intake attenuates the rate of disuse muscle atrophy by inhibiting oxidative stress and proteolysis via three major proteolytic pathways. © 2016 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society.

  16. Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy.

    Science.gov (United States)

    Fanin, Marina; Nascimbeni, Anna C; Angelini, Corrado

    2014-09-01

    Muscle fiber atrophy and the molecular pathways underlying this process have not been investigated in dysferlinopathy patients. In 22 muscles from dysferlinopathy patients we investigated fiber atrophy by morphometry and ubiquitin-proteasome and autophagic pathways using protein and/or transcriptional analysis of atrophy- and autophagy-related genes (MuRF1, atrogin1, LC3, p62, Bnip3). Dysferlinopathy showed significant fiber atrophy and higher MuRF-1 protein and mRNA levels, which correlated with fiber size, suggesting activation of the atrophy program by proteasome induction. Some of the MuRF-1 upregulation and proteasome induction may be attributed to the prominent regeneration found. A potential role of impaired autophagy was suggested by p62-positive protein aggregates in atrophic fibers and significantly higher levels of LC3-II and p62 proteins and overexpression of p62 and Bnip3 mRNA. Damaged muscle fibers and prominent inflammatory changes may also enhance autophagy due to the insufficient level of proteasomal degradation of mutant dysferlin. Copyright © 2014 Wiley Periodicals, Inc.

  17. Different levels of implicit emotional recognition in posterior cortical atrophy (PCA).

    Science.gov (United States)

    Gonzalez-Gadea, María Luz; Ibanez, Agustín; Damm, Juliane; Ramirez Romero, Diana Andrea; Abrevaya, Sofia; Manes, Facundo; Richly, Pablo; Roca, Maria

    2015-01-01

    Previous single-case reports in posterior cortical atrophy (PCA) have shown preserved nonconscious visual recognition despite the absence of explicit recognition. In this study, we investigated three levels of visual recognition in both a female patient with PCA and a control group during the presentation of neutral, positive, and negative affective stimuli. Our results confirmed the profile of impaired explicit recognition and intact psychophysiological responses in the patient. In addition, she was able to implicitly recognize the valence and intensity of arousal of these stimuli. We suggest that implicit emotional awareness may mediates explicit and psychophysiological recognition in PCA.

  18. Management of scoliosis in patients with Duchenne muscular dystrophy and spinal muscular atrophy: A literature review.

    Science.gov (United States)

    Garg, Sumeet

    2016-01-01

    Scoliosis occurs in nearly all non-ambulatory children with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Non-operative treatments have not been shown to be effective at preventing progression of scoliosis. Progressive scoliosis can impact the ability of patients to sit comfortably, be cosmetically unappealing, and in severe cases exacerbate pulmonary disease. The main goal of operative treatment is to improve sitting balance and prevent progression of scoliosis. Complication rates are high and there is little data on effect of operative treatment on quality of life in children with SMA and DMD. Comprehensive multi-disciplinary pre-operative evaluations are vital to reduce the risks of operative treatment.

  19. Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant

    Directory of Open Access Journals (Sweden)

    Geeta Gathwala

    2014-01-01

    Full Text Available Spinal muscular atrophy (SMA is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. In addition to the three classical SMA types, a new form known as type 0 with intrauterine onset, profound hypotonia and a progressive and early fatal course has been described. Herein we report a case of type 0 SMA with a Dandy Walker variant anomaly, which has not hitherto been reported in the world literature.

  20. Spontaneous regression of a cystic hypoglossal schwannoma causing unilateral tongue atrophy.

    Science.gov (United States)

    Durnford, Andrew J; Harrisson, Stuart E; Ditchfield, Adam; Shenouda, Emad

    2014-01-01

    A 60-year-old lady presented with intermittent headaches. Examination revealed striking marked unilateral tongue atrophy. Magnetic resonance imaging (MRI) revealed a cystic lesion in the hypoglossal canal and a provisional diagnosis of cystic hypoglossal schwannoma made. Annual surveillance scans showed stable appearances but surprisingly at 3 years they showed a significant reduction in the size of the lesion. Most patients with hypoglossal schwannomas present with ipsilateral hypoglossal nerve palsy; careful cranial nerve examination is vital in diagnosing such rare lesions. Little is known of their natural history, with most lesions undergoing surgery. This case highlights spontaneous regression following non-operative management.

  1. Apoptosis in skeletal muscle and its relevance to atrophy

    Institute of Scientific and Technical Information of China (English)

    Esther E Dupont-Versteegden

    2006-01-01

    Apoptosis is necessary for maintaining the integrity of proliferative tissues, such as epithelial cells of the gastrointestinal system. The role of apoptosis in post mitotic tissues, such as skeletal muscle, is less well defined. Apoptosis during muscle atrophy occurs in both myonuclei and other muscle cell types. Apoptosis of myonuclei likely contributes to the loss of muscle mass, but the mechanisms underlying this process are largely unknown. Caspase-dependent as well as -independent pathways have been implicated and the mode by which atrophy is induced likely determines the apoptotic mechanisms that are utilized. It remains to be determined whether a decrease in apoptosis will alleviate atrophy and distinct research strategies may be required for different causes of skeletal muscle loss.

  2. Can endurance exercise preconditioning prevention disuse muscle atrophy?

    Directory of Open Access Journals (Sweden)

    Michael P Wiggs

    2015-03-01

    Full Text Available Emerging evidence suggests that exercise training can provide a level of protection against disuse muscle atrophy. Endurance exercise training imposes oxidative, metabolic, and heat stress on skeletal muscle which activates a variety of cellular signaling pathways that ultimately leads to the increased expression of proteins that have been demonstrated to protect muscle from inactivity –induced atrophy. This review will highlight the effect of exercise-induced oxidative stress on endogenous enzymatic antioxidant capacity (i.e., superoxide dismutase, glutathione peroxidase, and catalase, the role of oxidative and metabolic stress on PGC1-α, and finally highlight the effect heat stress and HSP70 induction. Finally, this review will discuss the supporting scientific evidence that these proteins can attenuate muscle atrophy through exercise preconditioning.

  3. High-frequency chest-wall oscillation in a noninvasive-ventilation-dependent patient with type 1 spinal muscular atrophy.

    Science.gov (United States)

    Keating, Joanna M; Collins, Nicola; Bush, Andrew; Chatwin, Michelle

    2011-11-01

    With the recent increased use of noninvasive ventilation, the prognoses of children with neuromuscular disease has improved significantly. However, children with muscle weakness remain at risk for recurrent respiratory infection and atelectasis. We report the case of a young girl with type 1 spinal muscular atrophy who was dependent on noninvasive ventilation, and in whom conventional secretion-clearance physiotherapy became insufficient to clear secretions. We initiated high-frequency chest-wall oscillation (HFCWO) as a rescue therapy, and she had improved self-ventilation time. This is the first case report of HFCWO for secretion clearance in a severely weak child with type 1 spinal muscular atrophy. In a patient with neuromuscular disease and severe respiratory infection and compromise, HFCWO can be used safely in combination with conventional secretion-clearance physiotherapy.

  4. Atrophy of the corpus callosum correlates with white matter lesions in patients with cerebral ischaemia

    Energy Technology Data Exchange (ETDEWEB)

    Meguro, K.; Yamadori, A. [Section of Neuropsychology, Division of Disability Science, Tohoku University Graduate School of Medicine, 2-1, Seiryo-machi, Aoba-ku, 980-8575 Sendai (Japan); Constans, J.M.; Courtheoux, P.; Theron, J. [MR Unit, University of Caen School of Medicine, Caen (France); Viader, F. [Department of Neuroradiology, University of Caen School of Medicine, Caen (France)

    2000-06-01

    Many studies of white matter high signal (WMHS) on T2-weighted MRI have disclosed that it is related to cerebral ischaemia and to brain atrophy. Atrophy of the corpus callosum (CC) has also been studied in relation to ischaemia. Our objective was to test the hypothesis that CC atrophy could be due to ischaemia. We therefore assessed CC, WMHS and brain atrophy in patients with risk factors without strokes (the risk factor group) and in those with infarcts (the infarct group), to investigate the relationships between these factors. We studied 30 patients in the infarct group, 14 in the risk factor group, and 29 normal subjects. Using axial T1-weighted MRI, cortical atrophy and ventricular enlargement (brain atrophy) were visually rated. Using axial T2-weighted MRI, WMHS was assessed in three categories: periventricular symmetrical, periventricular asymmetrical and subcortical. Using the mid-sagittal T1-weighted image, the CC was measured in its anterior, posterior, midanterior and midposterior portions. In the normal group, no correlations were noted between parameters. In the infarct group, there were significant correlations between CC and brain atrophy, and between CC atrophy and WMHS. After removing the effects of age, gender and brain atrophy, significant correlations were noted between some CC measures and subcortical WMHS. In the risk factor group, there were significant correlations between CC and brain atrophy and between CC atrophy and WMHS. After allowance for age, gender and brain atrophy, significant correlations between some CC measures and periventricular WMHS remained. The hypothesis that CC atrophy could be due to cerebral ischaemia was supported by other analyses. Namely, for correlations between the extent of infarcts and partial CC atrophy in patients with anterior middle cerebral artery (MCA) and with posterior MCA infarcts, there were significant correlations between the extent of infarct and midanterior CC atrophy in the former, and posterior

  5. Accelerating regional atrophy rates in the progression from normal aging to Alzheimer's disease

    Energy Technology Data Exchange (ETDEWEB)

    Sluimer, Jasper D. [VU University Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); VU University Medical Centre, Alzheimer Centre, Amsterdam (Netherlands); VU University Medical Centre, Image Analysis Centre, Amsterdam (Netherlands); VU University Medical Centre, Department of Diagnostic Radiology and Alzheimer Centre, PO Box 7057, Amsterdam (Netherlands); Flier, Wiesje M. van der; Scheltens, Philip [VU University Medical Centre, Alzheimer Centre, Amsterdam (Netherlands); VU University Medical Centre, Department of Neurology, Amsterdam (Netherlands); Karas, Giorgos B.; Barkhof, Frederik [VU University Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); VU University Medical Centre, Alzheimer Centre, Amsterdam (Netherlands); VU University Medical Centre, Image Analysis Centre, Amsterdam (Netherlands); Schijndel, Ronald van [VU University Medical Centre, Image Analysis Centre, Amsterdam (Netherlands); VU University Medical Centre, Department of Informatics, Amsterdam (Netherlands); Barnes, Josephine; Boyes, Richard G. [UCL, Institute of Neurology, Dementia Research Centre, London (United Kingdom); Cover, Keith S. [VU University Medical Centre, Department of Physics and Medical Technology, Amsterdam (Netherlands); Olabarriaga, Silvia D. [University of Amsterdam, Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Centre, Amsterdam (Netherlands); Fox, Nick C. [VU University Medical Centre, Department of Neurology, Amsterdam (Netherlands); UCL, Institute of Neurology, Dementia Research Centre, London (United Kingdom); Vrenken, Hugo [VU University Medical Centre, Alzheimer Centre, Amsterdam (Netherlands); VU University Medical Centre, Image Analysis Centre, Amsterdam (Netherlands); VU University Medical Centre, Department of Physics and Medical Technology, Amsterdam (Netherlands)

    2009-12-15

    We investigated progression of atrophy in vivo, in Alzheimer's disease (AD), and mild cognitive impairment (MCI). We included 64 patients with AD, 44 with MCI and 34 controls with serial MRI examinations (interval 1.8 {+-} 0.7 years). A nonlinear registration algorithm (fluid) was used to calculate atrophy rates in six regions: frontal, medial temporal, temporal (extramedial), parietal, occipital lobes and insular cortex. In MCI, the highest atrophy rate was observed in the medial temporal lobe, comparable with AD. AD patients showed even higher atrophy rates in the extramedial temporal lobe. Additionally, atrophy rates in frontal, parietal and occipital lobes were increased. Cox proportional hazard models showed that all regional atrophy rates predicted conversion to AD. Hazard ratios varied between 2.6 (95% confidence interval (CI) = 1.1-6.2) for occipital atrophy and 15.8 (95% CI = 3.5-71.8) for medial temporal lobe atrophy. In conclusion, atrophy spreads through the brain with development of AD. MCI is marked by temporal lobe atrophy. In AD, atrophy rate in the extramedial temporal lobe was even higher. Moreover, atrophy rates also accelerated in parietal, frontal, insular and occipital lobes. Finally, in nondemented elderly, medial temporal lobe atrophy was most predictive of progression to AD, demonstrating the involvement of this region in the development of AD. (orig.)

  6. Muscle ring finger 1 mediates cardiac atrophy in vivo.

    Science.gov (United States)

    Willis, Monte S; Rojas, Mauricio; Li, Luge; Selzman, Craig H; Tang, Ru-Hang; Stansfield, William E; Rodriguez, Jessica E; Glass, David J; Patterson, Cam

    2009-04-01

    Pathological cardiac hypertrophy, induced by various etiologies such as high blood pressure and aortic stenosis, develops in response to increased afterload and represents a common intermediary in the development of heart failure. Understandably then, the reversal of pathological cardiac hypertrophy is associated with a significant reduction in cardiovascular event risk and represents an important, yet underdeveloped, target of therapeutic research. Recently, we determined that muscle ring finger-1 (MuRF1), a muscle-specific protein, inhibits the development of experimentally induced pathological; cardiac hypertrophy. We now demonstrate that therapeutic cardiac atrophy induced in patients after left ventricular assist device placement is associated with an increase in cardiac MuRF1 expression. This prompted us to investigate the role of MuRF1 in two independent mouse models of cardiac atrophy: 1) cardiac hypertrophy regression after reversal of transaortic constriction (TAC) reversal and 2) dexamethasone-induced atrophy. Using echocardiographic, histological, and gene expression analyses, we found that upon TAC release, cardiac mass and cardiomyocyte cross-sectional areas in MuRF1(-/-) mice decreased approximately 70% less than in wild type mice in the 4 wk after release. This was in striking contrast to wild-type mice, who returned to baseline cardiac mass and cardiomyocyte size within 4 days of TAC release. Despite these differences in atrophic remodeling, the transcriptional activation of cardiac hypertrophy measured by beta-myosin heavy chain, smooth muscle actin, and brain natriuretic peptide was attenuated similarly in both MuRF1(-/-) and wild-type hearts after TAC release. In the second model, MuRF1(-/-) mice also displayed resistance to dexamethasone-induced cardiac atrophy, as determined by echocardiographic analysis. This study demonstrates, for the first time, that MuRF1 is essential for cardiac atrophy in vivo, both in the setting of therapeutic

  7. Grb2-associated binder 1 polymorphism was associated with the risk of Helicobactor pylori infection and gastric atrophy

    Directory of Open Access Journals (Sweden)

    Yasuyuki Goto, Takafumi Ando, Kazuko Nishio, Sayo Kawai, Yoshiko Ishida, Mariko Naito, Hidemi Goto, Nobuyuki Hamajima

    2007-01-01

    Full Text Available Background: Various single nucleotide polymorphisms (SNPs have explained the association between Helicobacter pylori (H. pylori and gastric atrophy and cancer. This study investigated the associations of Grb2 associated binder 1 (Gab1 polymorphism and the combination of PTPN11 gene encoding src homology 2 domain-containing protein tyrosine phosphatase-2 (SHP2 and Gab1 gene with gastric cancer and gastric atrophy among H. pylori seropositive subjects. Methods: A single nucleotide polymorphism at intron 2 of Gab1 (JST164345 was examined for 454 Japanese health checkup examinees (126 males and 328 females aged 35 to 85 without a history of gastric cancer and 202 gastric cancer patients (134 males and 68 females aged 33 to 94 with pathologically confirmed diagnosis of gastric adenocarcinoma. Results: The decreased OR of the Gab1 A/A for H. pylori seropositivity was 0.25 (95% confidence interval (CI: 0.08-0.71. Among seropositive healthy controls, the OR of the Gab1 G/A+A/A for gastric atrophy was significant (OR=1.95, 95% CI: 1.12 -3.40. Seropositive individuals with PTPN11 G/G and Gab1 G/A+A/A demonstrated the highest risk of gastric atrophy with significance (OR=3.49, 95% CI: 1.54-7.90 relative to PTPN11 G/A+A/A and Gab1 G/G, the lowest risk combination, as a reference. However, the gene-gene interaction between PTPN11 and Gab1 was not observed (OR=1.39, 95% CI: 0.41-4.66. Compared to gastric cancer case, the Gab1 did not influence the step of atrophy/metaplasia-gastric cancer sequence. Conclusions: This study represents that the Gab1 polymorphism was associated with the low risk of H. pylori infection and the high risk of gastric atrophy among seropositive healthy controls, and that seropositive individuals with PTPN11 G/G and Gab1 G/A+G/G were associated with the greatest risk of gastric atrophy. These findings require confirmation in much larger studies.

  8. 微血管减压术治疗老年面肌痉挛的临床疗效和安全性分析%Clinical efficacy and safety of microvascular decompression in treating elderly patients with hemifacial spasm

    Institute of Scientific and Technical Information of China (English)

    王凯; 张继志; 邓东风; 李亮; 王洪国

    2012-01-01

    目的 探讨微血管减压术(MVD)在老年患者面肌痉挛治疗上的临床疗效和安全性.方法 收集自2005年至2012年351例因面肌痉挛在大连大学附属中山医院行MVD的患者,将其中44例年龄大于等于65岁为老年组,余307例年龄小于65岁为年轻组.回顾性分析比较老年组和年轻组的治愈率及并发症. 结果 2组患者一般资料比较:老年组与年轻组患者在男女比例、病变部位、住院时间、责任血管上差异无统计学意义(P>0.05);在年龄、病程上差异有统计学意义(P<0.05).老年患者总体治愈率为97.7%,年轻组为97.1%;并发症如永久性神经功能障碍,导致听力下降和面肌麻痹在老年组有1例(占2.27%,1/44),年轻组为5例(占1.63%,5/307),无死亡病例.结论 MVD是治疗面肌痉挛最有效的治疗方法,治疗老年面肌痉挛患者较之年轻患者没有更高的并发症发生率和死亡率.对于原发性面肌痉挛患者,只要其一般健康情况能够耐受全身麻醉,可考虑行MVD.%Objective To investigate the curative effect and safety of microvascular decompression (MVD) for hemifacial spasm (HFS) in elderly patients.Methods Three hundred and fifty-one patients with HFS,admitted to our hospital from 2006 to 2011 and underwent MVD,were chosen in our study; among them,44 patients older than 65 years were chosen as elderly group and the other as young group.The complications and the cure rates were evaluated and compared between the elderly group and the young group.Results No significant statistical differences on gender,location of the lesions,hospitalization time and offending vessels were noted between the elderly and young groups (P>0.05).However,significant statistical difference on both age and diease duration was noted between the two groups (P<0.05).The overall cure rate was 97.7% for elderly patients and 97.1% for young patients.Permanent neurological deficits,such as hearing loss and facial

  9. Recommendations for the management of postmenopausal vaginal atrophy

    DEFF Research Database (Denmark)

    Sturdee, D W; Panay, N; Ulrich, Lian

    2010-01-01

    for hormone replacement therapy (HRT) over recent years that has suggested an increased risk of breast cancer, heart disease and stroke. But, regardless of whether these scares are justified, local treatment of vaginal atrophy is not associated with these possible risks of systemic HRT. Other reasons...... dryness can be helped by simple lubricants but the best and most logical treatment for urogenital atrophy is to use local estrogen. This is safe, effective and with few contraindications. It is hoped that these guidelines and recommendations, produced to coincide with World Menopause Day 2010, will help...

  10. Bilaterally impaired hand dexterity with posterior cortical atrophy

    Directory of Open Access Journals (Sweden)

    Nages Nagaratnam, MD, FRACP, FRCPA, FACC

    2015-12-01

    Full Text Available A 79-year- old man presented with bilaterally impaired hand movements pertaining to handling of objects although hand movements without the use of objects were preserved, findings consistent with tactile apraxia. His hand and finger movements were slow and clumsy. He had an isolated optic ataxia, a component of Balint's syndrome. The computed tomography scan showed enlargement of the posterior horns of the lateral ventricles. He had recurrent falls probably owing to visual attentional deficits, which may be present in patients with posterior cortical atrophy. The findings can be deemed to fall within the posterior cortical atrophy spectrum. The underlying mechanisms are discussed.

  11. From alveolar diffuse atrophy to aggressive periodontitis: a brief history.

    Science.gov (United States)

    Guzeldemir, Esra; Toygar, Hilal Uslu

    2006-01-01

    Technologic advances in mechanics, electronics, physics, chemistry, and computer science have contributed to advances in dental medicine. Periodontology is not only a clinical science but is also directly related to the basic sciences. Research is conducted in laboratories rather than in clinics now. During the last century, aggressive periodontitis has received attention from numerous researchers because of its multifactorial features. This paper explores the long scientific journey of aggressive periodontitis, beginning with its first definition as alveolar diffuse atrophy. Perhaps in the future, "alveolar diffuse atrophy" will be referred to by another name or term. However, this journey will never end.

  12. Vulvar and Vaginal Atrophy: Physiology, Clinical Presentation, and Treatment Considerations.

    Science.gov (United States)

    Lev-Sagie, Ahinoam

    2015-09-01

    Vulvovaginal atrophy is a common condition associated with decreased estrogenization of the vaginal tissue. Symptoms include vaginal dryness, irritation, itching, soreness, burning, dyspareunia, discharge, urinary frequency, and urgency. It can occur at any time in a woman's life cycle, although more commonly in the postmenopausal phase, during which the prevalence is approximately 50%. Despite the high prevalence and the substantial effect on quality of life, vulvovaginal atrophy often remains underreported and undertreated. This article aims to review the physiology, clinical presentation, assessment, and current recommendations for treatment, including aspects of effectiveness and safety of local vaginal estrogen therapies.

  13. Mechanisms of Muscle Growth and Atrophy in Mammals and Drosophila

    Science.gov (United States)

    Piccirillo, Rosanna; Demontis, Fabio; Perrimon, Norbert; Goldberg, Alfred L.

    2014-01-01

    The loss of skeletal muscle mass (atrophy) that accompanies disuse and systemic diseases is highly debilitating. Although the pathogenesis of this condition has been primarily studied in mammals, Drosophila is emerging as an attractive system to investigate some of the mechanisms involved in muscle growth and atrophy. In this review, we highlight the outstanding unsolved questions that may benefit from a combination of studies in both flies and mammals. In particular, we discuss how different environmental stimuli and signaling pathways influence muscle mass and strength and how a variety of disease states can cause muscle wasting. PMID:24038488

  14. Homocysteine, Liver Function Derangement and Brain Atrophy in Alcoholics.

    Science.gov (United States)

    Fernández-Rodríguez, Camino; González-Reimers, Emilio; Quintero-Platt, Geraldine; de la Vega-Prieto, María José; Pérez-Hernández, Onán; Martín-González, Candelaria; Espelosín-Ortega, Elisa; Romero-Acevedo, Lucía; Santolaria-Fernández, Francisco

    2016-11-01

    Hyperhomocysteinemia may be involved in the development of brain atrophy in alcoholics. Its pathogenesis is multifactorial. In the present study, we analyse the relationship between homocysteine levels and brain atrophy, and the relative weight of co-existing factors such as liver function impairment, the amount of ethanol consumed, serum vitamin B12, B6, and folic acid levels on homocysteine levels and brain alterations in alcoholic patients. We included 59 patients admitted to this hospital for major withdrawal symptoms and 24 controls. The mini-mental state examination test and a brain computed tomography (CT) scan were performed and several indices were calculated. Serum levels of homocysteine, folic acid, vitamin B6 and vitamin B12 were determined. Liver function was assessed by Child-Pugh score. The daily consumption of ethanol in grams per day and years of addiction were recorded. A total of 83.6% and 80% of the patients showed cerebellar or frontal atrophy, respectively. Patients showed altered values of brain indices, higher levels of homocysteine and vitamin B12, but lower levels of folic acid, compared with controls. Homocysteine, B12 and liver function variables showed significant correlations with brain CT indices. Multivariate analyses disclosed that Pugh's score, albumin and bilirubin were independently related to cerebellar atrophy, frontal atrophy, cella index or ventricular index. Serum vitamin B12 was the only factor independently related to Evans index. It was also related to cella index, but after bilirubin. Homocysteine levels were independently related to ventricular index, but after bilirubin. Vitamin B12 and homocysteine levels are higher among alcoholics. Liver function derangement, vitamin B12 and homocysteine are all independently related to brain atrophy, although not to cognitive alterations. Hyperhomocysteinemia has been described in alcoholics and may be related to brain atrophy, a reversible condition with an obscure pathogenesis

  15. X-linked spinal and bulbar muscular atrophy (Kennedy's disease with long-term electrophysiological evaluation: case report Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy com seguimento eletrofisiológico de longo prazo: relato de caso

    Directory of Open Access Journals (Sweden)

    João Aris Kouyoumdjian

    2005-03-01

    Full Text Available X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND, who presented acute and reversible left vocal fold (dysphonia and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34. Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy é uma neuronopatia motora em adultos causada por expansões na repetição CAG no gene do receptor andrógeno. Neste relato, descreve-se o caso de homem de 66 anos, com diagnóstico prévio de doença do neurônio motor (DNM que apresentou quadro agudo e reversível de paresia de prega vocal (disfonia e de músculos faríngeos à esquerda; posteriormente seguiram-se surtos de fraqueza lentamente progressiva, atrofia e fasciculações em língua, masseter, face, faringe e membros superiores predominantemente proximal, associada a tremor

  16. Successful Treatment of Hemifacial Myokymia and Dystonia Associated to Linear Scleroderma “En Coup de Sabre” with Repeated Botox Injections

    Directory of Open Access Journals (Sweden)

    Carlos A. Cañas

    2012-01-01

    Full Text Available Linear scleroderma “en coup de sabre” (LSCS is a form of localized scleroderma presents as band-like sclerotic lesions of the frontoparietal area. It has been reported in association with diverse neurological manifestations like seizures, migraine, neuromyotonia, dystonia and abnormalities in MRI and CT studies as cerebral atrophy, white matter lesions, intraparenchymal calcification, meningeocortical alterations, and skull atrophy. We describe a patient with LSCS associated with two abnormal movements: permanent myokimia of right masseter muscle and recurrent spasmodic retraction of right cigomatic and depressor labii inferioris muscles. He was initially treated with methotrexate and steroids without response, so later on he underwent repeated Botox injections with remarkable improvement.

  17. Brain atrophy and lesion load predict long term disability in multiple sclerosis

    DEFF Research Database (Denmark)

    Popescu, Veronica; Agosta, Federica; Hulst, Hanneke E

    2013-01-01

    To determine whether brain atrophy and lesion volumes predict subsequent 10 year clinical evolution in multiple sclerosis (MS).......To determine whether brain atrophy and lesion volumes predict subsequent 10 year clinical evolution in multiple sclerosis (MS)....

  18. Genetics Home Reference: spinal muscular atrophy with respiratory distress type 1

    Science.gov (United States)

    ... Home Health Conditions SMARD1 spinal muscular atrophy with respiratory distress type 1 Enable Javascript to view the expand/ ... All Close All Description Spinal muscular atrophy with respiratory distress type 1 ( SMARD1 ) is an inherited condition that ...

  19. Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.

    Directory of Open Access Journals (Sweden)

    Lucia V Schottlaender

    Full Text Available The objective of this study was to evaluate whether the levels of coenzyme Q10 (CoQ10 in brain tissue of multiple system atrophy (MSA patients differ from those in elderly controls and in patients with other neurodegenerative diseases.Flash frozen brain tissue of a series of 20 pathologically confirmed MSA patients [9 olivopontocerebellar atrophy (OPCA type, 6 striatonigral degeneration (SND type, and 5 mixed type] was used for this study. Elderly controls (n = 37 as well as idiopathic Parkinson's disease (n = 7, dementia with Lewy bodies (n = 20, corticobasal degeneration (n = 15 and cerebellar ataxia (n = 18 patients were used as comparison groups. CoQ10 was measured in cerebellar and frontal cortex tissue by high performance liquid chromatography.We detected a statistically significant decrease (by 3-5% in the level of CoQ10 in the cerebellum of MSA cases (P = 0.001, specifically in OPCA (P = 0.001 and mixed cases (P = 0.005, when compared to controls as well as to other neurodegenerative diseases [dementia with Lewy bodies (P<0.001, idiopathic Parkinson's disease (P<0.001, corticobasal degeneration (P<0.001, and cerebellar ataxia (P = 0.001].Our results suggest that a perturbation in the CoQ10 biosynthetic pathway is associated with the pathogenesis of MSA but the mechanism behind this finding remains to be elucidated.

  20. Longitudinal assessment of global and regional atrophy rates in Alzheimer's disease and dementia with Lewy bodies

    Directory of Open Access Journals (Sweden)

    Elijah Mak

    2015-01-01

    Conclusions: AD showed a faster rate of global brain atrophy compared to DLB, which had similar rates of atrophy to HC. Among dementia subjects, younger age was associated with accelerated atrophy, reflecting more aggressive disease in younger people. PBVC could aid in differentiating between DLB and AD, however its utility as an outcome marker in DLB is limited.