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Casper Catharina - - 2013
The majority of studies investigating the molecular pathogenesis and cell biology underlying dystonia have been performed in individuals with primary dystonia. This includes monogenic forms such as DYT1and DYT6 dystonia, and primary focal dystonia which is likely to be multifactorial in origin. In recent years there has been renewed interest ...
Xu Hao - - 2013
Objective. This trial aims to look for the protein biomarker of "toxin syndrome" of CHD patients. Methods. We have performed two trials in this paper. The first trial was a randomized controlled trial (RCT) of the plasma proteome in unstable angina (UA) patients by Maldi-Tof Mass. The second trial was ...
Shimoe Takashi - - 2013
Carpal tunnel syndrome is a common condition; however, it has not been previously reported in patients with hemihypertrophy. A 67-year-old woman with left-sided hemihypertrophy presented with carpal tunnel syndrome of the left hand. Magnetic resonance imaging showed enlargement of the median nerve proximal to the transverse carpal ligament. Carpal tunnel ...
Frank Rachel M RM Section of Shoulder and Elbow Surgery, Department of Orthopaedic Surgery, Rush University Medical Center, Chicago, IL 60612, - - 2013
The scapulothoracic articulation is a sliding junction between the deep aspect of the scapula and thoracic rib cage at the levels of ribs 2 through 7. Motion at this articulation is dynamically stabilized by a variety of muscular attachments, allowing for controlled positioning of the glenoid to assist in glenohumeral ...
Naher B S - - 2013
Freeman sheldon syndrome or Whistling face syndrome is a disorder involving face and the musculoskeletal system. There are three basic abnormalities like microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers and talipes equinovarus. Other associated less specific abnormalities are short broad neck, kyphoscoliosis. Most of the features ...
Milanlioglu Aysel - - 2013
Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, ...
Zhang Junfeng J Discipline of Chinese and Western Integrative Medicine, Nanjing University of Chinese Medicine, Nanjing 210023, China ; College of Basic Medicine, Nanjing University of Chinese Medicine, Nanjing 210023, - - 2013
In traditional Chinese medicine (TCM), correct syndrome differentiation is the most important principle guiding the prescription of Chinese herbal formulae for the treatment of gastric cancer (GC). We aimed to reveal the genetic mechanisms underlying GC syndrome differentiation (ZHENG) in a population of 387 GC patients. Twenty-nine single nucleotide polymorphisms (SNPs) ...
Derksen Angelika - - 2013
We report a 61-year-old man presenting with rapidly progressive stiffness and painful muscle spasms in the lower extremity muscles. The patient was diagnosed with chronic lymphocytic leukaemia (CLL) approximately a year before symptom onset. Electromyography displayed continuous motor unit activity and immunocytochemistry showed a positive staining for antiglycine receptor (anti-GlyR) ...
Otani Kazuhiro - - 2013
  We report a 39-year-old female admitted for fever. She showed physical findings of bilateral granulomatous uveitis, swelling of the bilateral parotid glands, and paralysis of the left second branch of the trigeminal nerve. Her chest X-ray showed evidence of bilateral hilar lymphadenopathy. We performed biopsy of her parotid gland, and ...
Yan Hailiang - - 2013
Myoclonus dystonia syndrome is a rare movement disorder featured by myoclonic jerks and dystonia. We identified here a point mutation in ε-sarcoglycan gene exon 6 associating with inherited myoclonus dystonia syndrome in a Chinese Han family. The mutation identified induces a stop codon and terminates the transcription of ε-sarcoglycan mRNA. ...
Meundi Manasa Anand - - 2013
Hypoglossia-hypodactyly is a rare congenital anomaly affecting the tongue and the limbs. Hall in 1971 classified it under a complex group of disorders called oromandibular limb hypogenesis syndromes. It is an extremely rare condition with around 40 cases reported in the world literature. The cause of the syndrome is unknown. ...
Balakrishnan Sudha - - 2013
This chapter aims to address the questions of the definition and effective management of spasticity, in order to assist the reader to recognize, assess, and treat people with this impairment. Spasticity is a physiological consequence of an insult to the brain or spinal cord, which can lead to life-threatening, disabling, ...
Elliott Rex - - 2013
Carpal tunnel syndrome is a common peripheral entrapment that causes neuralgia in the median nerve distribution of the hand. The primary aim of this study was to evaluate the efficacy of massage therapy as a treatment for carpal tunnel syndrome. Within this process, the locations of trigger-points that refer neuropathy ...
D'Amore A - - 2012
Guillain-Barré syndrome is a post infectious, immune-mediated disease with cranial nerve involvement observed in 45-75% of patients. Bilateral facial nerve palsy is rather uncommon and occurs in 0.3% to 2% of all facial palsies. We describe a rare case of a 29-year-old man with bilateral facial palsy caused by a ...
Lange J - - 2012
This study evaluates the diagnostic value of ultrasound as a first-line exam in carpal tunnel syndrome. In 16 patients with carpal tunnel syndrome and 32 matched controls, evaluation of the median nerve was performed by the cross-sectional area at wrist level and wrist-forearm ratio. This study found statistically significant differences ...
Wang Tom Kai Ming - - 2012
First bite syndrome (FBS) is characterized by unilateral pain in the parotid region after the first bite of each meal, usually following ipsilateral neck surgery. The proposed mechanism is sympathetic denervation of the parotid gland, from iatrogenic injury to the sympathetic trunk supplying this gland. Local botulinum toxin injection has ...
Ramos-Leví Ana M - - 2012
Introduction: Multiple endocrine neoplasia type 2 (MEN 2) is an uncommon autosomal dominant cancer syndrome which can be associated with nerve conduction abnormalities. Methods: A 14-year-old boy with a family history of consanguinity developed progressive gait clumsiness, pes cavus, hypotonia, and mucosal tumors of the lips and tongue since the ...
Wipperman Jennifer - - 2012
Physical maneuvers are an essential step in diagnosing carpal tunnel syndrome. This update can help you get up to speed on diagnosis and treatment.
Lekawanvijit Suree S Department of Epidemiology and Preventive Medicine, Centre of Cardiovascular Research and Education in Therapeutics, Monash University, Melbourne, Victoria 3004, - - 2012
Cardiorenal syndrome is a condition in which a complex interrelationship between cardiac dysfunction and renal dysfunction exists. Despite advances in treatment of both cardiovascular and kidney disease, cardiorenal syndrome remains a major global health problem. Characteristic of the pathophysiology of cardiorenal syndrome is bidirectional cross-talk; mediators/substances activated by the disease ...
Peng Chen Zhongxing - - 2012
Two decades ago, botulinum neurotoxin (BoNT) type A was introduced to the commercial market. Subsequently, the toxin was approved by the FDA to address several neurological syndromes, involving muscle, nerve, and gland hyperactivity. These syndromes have typically been associated with abnormalities in cholinergic transmission. Despite the multiplicity of botulinal serotypes ...
Foley Jacqueline Mary - - 2012
The objective of this paper is to discuss the classification, diagnosis, pathophysiology and management of Thoracic outlet syndrome (TOS). Thoracic outlet syndrome (TOS) is a complex entity that is characterized by different neurovascular signs and symptoms involving the upper limb. TOS is defined as upper extremity symptoms due to compression ...
Ochi K - - 2012
Simple decompression of the ulnar nerve at the elbow has not been shown to reduce nerve strain in cadavers. In this study, ulnar nerve strain at the elbow was measured intraoperatively in 11 patients with cubital tunnel syndrome, before and after simple decompression. Statistical analysis was performed using a paired ...
Razik Aisha - - 2012
Abstract This report presents the case of a 44-year-old man who presented with elective bilateral carpal tunnel decompression. At the operation, he was found to have bilateral palmaris profundus tendons within the carpal tunnel, impinging on the median nerve. In releasing both carpal tunnels, the patient's symptoms were alleviated and ...
Stritt Andrea - - 2012
This case describes evidence for a Shiga-toxin producing Escherichia coli (STEC) O146:H28 infection leading to hemolytic uremic syndrome in a neonate. STEC O146:H28 was linked hitherto with asymptomatic carriage in humans. Based on strain characteristics and genotyping data, the mother is a healthy carrier, who transmitted the STEC during delivery. ...
de Bot Susanne T - - 2012
Although the combined presence of ataxia and pyramidal features has a long differential, the presence of a true spastic-ataxia as the predominant clinical syndrome has a rather limited differential diagnosis. Autosomal recessive ataxia of Charlevoix-Saguenay, late-onset Friedreich ataxia, and hereditary spastic paraplegia type 7 are examples of genetic diseases with ...
Bhatnagar A - - 2012
Servelle Martorelle Syndrome is a congenital vascular malformation associated with soft tissue hypertrophy and bony hypoplasia. This rarely involves whole of an extremity, with involvement of part of limbs reported in literature. We present a case of a twelve year boy who presented to the Department of Plastic Surgery SGPGIMS ...
Bachoura Abdo - - 2012
Ulnar tunnel syndrome could be broadly defined as a compressive neuropathy of the ulnar nerve at the level of the wrist. The ulnar tunnel, or Guyon's canal, has a complex and variable anatomy. Various factors may precipitate the onset of ulnar tunnel syndrome. Patient presentation depends on the anatomic zone ...
Buluc Levent - - 2012
Acromicric dysplasia is a skeletal dysplasia that is characterized by short stature, short hands and feet, typical facial dysmorphism, normal mental development, and characteristic hand radiology. Carpal tunnel syndrome may be seen in adults with acromicric dysplasia; however, to the authors' knowledge, it has not been reported in pediatric patients. ...
Kariya Shin - - 2012
Mucopolysaccharidosis type I/Hurler syndrome is an autosomal recessive disease caused by a deficiency of α-L-iduronidase activity. Recurrent middle ear infections and hearing loss are common complications in Hurler syndrome. Although sensorineural and conductive components occur, the mechanism of sensorineural hearing loss has not been determined. The purpose of this study ...
Dhond Rupali P - - 2012
Neuroimaging data demonstrate that carpal tunnel syndrome, a peripheral neuropathy, is accompanied by maladaptive central neuroplasticity. To further investigate this phenomenon, we collected magnetoencephalography data from 12 patients with carpal tunnel syndrome and 12 healthy control subjects undergoing somatosensory stimulation of the median nerve-innervated Digits 2 and 3, as well ...
Catena Nunzio - - 2012
: The Poland anomaly (PA) comprises unilateral absence or hypoplasia of the pectoralis major muscle and a variable degree of ipsilateral hand and upper limb anomalies. Various hand and upper limb anomalies classifications in PA have been previously published. In this work, a new classification of hand and upper limb ...
Meila Dan - - 2012
Neurovascular compression is assumed to cause symptoms like trigeminal neuralgia, hemifacial spasm and vestibular paroxysmia. We present a patient with recurrent episodes of transient dysarthria due to isolated right hypoglossal nerve (HN) palsy. We describe the first case of a calcified persistent hypoglossal artery (PHA) as the putative cause of ...
Sims John R - - 2012
BACKGROUND: First bite syndrome is an unexpected yet relatively common complication of surgeries involving the parapharyngeal space. It can have a significant effect on both the quality of life and physical health of affected patients. This study presents 3 cases of first bite syndrome treated with botulinum toxin and a ...
Niver Genghis E - - 2012
Carpal tunnel syndrome is a common condition and is a well-recognized phenomenon following a distal radius fracture. The treating surgeon should be vigilant in noticing the signs and symptoms. If acute carpal tunnel syndrome is noted, then surgical release of the carpal tunnel and fracture fixation should be performed urgently. ...
Miller T A - - 2012
Piriformis Syndrome (PS) is an uncommon, controversial neuromuscular disorder that is presumed to be a compression neuropathy of the sciatic nerve at the level of the piriformis muscle (PM). The diagnosis is hampered by a lack of agreed upon clinical criteria and a lack of definitive investigations such as imaging ...
McShane John M - - 2012
The purpose of this study was to evaluate the effectiveness of a novel treatment procedure, sonographically guided percutaneous needle release of the carpal tunnel, for individuals with carpal tunnel syndrome. Seventeen patients (89% female; mean age, 62 years; SD, 13.6 years) with a clinical diagnosis of carpal tunnel syndrome who ...
Talari Keerthi - - 2012
Proteus syndrome (PS) is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with ...
Camargos Sarah - - 2012
Taking into account the crescent interest in the field of dystonia genetics, we have organized a didactic and fast algorithm to diagnose the main forms of hereditary dystonias. The key branch of this algorithm is pointed to dystonia classification in primary, plus, or paroxysmal. The specific characteristics of each syndrome ...
Georgakopoulos Constantine D - - 2012
We report a case of atypical Cogan's syndrome presenting as bilateral endogenous endophthalmitis in a woman with ovarian cancer. A 62-year-old woman with ovarian cancer developed bilateral interstitial keratitis and panuveitis accompanied by bilateral sensorineural hearing loss and chondritis. Auricular cartilage biopsy ruled out relapsing polychondritis and the diagnosis of ...
Avula Shivaram - - 2012
Pallister-Hall syndrome (PHS) is a rare condition characterised by anomalies including hypothalamic hamartoma, bifid epiglottis and postaxial polydactyly. Hearing loss has been recognised in this condition. Cochlear abnormalities have been described in mouse models of PHS, but there are no reports of similar findings in humans to date. This report ...
Tamura Atsushi - - 2012
Objective: This paper aims to comprehensively document a rare case of sensorineural hearing loss accompanied by hemophagocytic syndrome which could be one of the causes of cochlear dysfunction. Methods: A 63-year-old man presented with right-sided sudden hearing loss and dizziness and pure-tone audiometry showed a right-sided sensorineural hearing loss. The ...
McGoldrick Niall P - - 2012
Compartment syndrome is a well described limb-threatening and potentially life-threatening condition. Compartment syndromes of the upper and lower limbs are well documented in the literature. The gluteal region, however, is often not considered as a compartment despite having three osseofascial boundaries. We report a case of gluteal compartment syndrome which ...
Imran Tanzeel - - 2012
Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has ...
Knaudt Björn - - 2012
The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from ...
Dutt Rajdhar - - 2012
7 days old baby was admitted in Kamla Raja Raja Hospital with complaints of swelling on upper limb and lower limb. Polydactly of fingers and toes were present. All systems were normal Lab investigation - Blood examination was normal Ultrasound of abdomen, Echocardiography and CT scan of brain - Normal.
Alam S T - - 2012
Hypertrichosis is abnormal increase in body hair, when it becomes extensive known as Were Wolf Syndrome. Any part of body can be affected and body hairs are longer and darker. Hairs may be of any type like lanugo, vellous or terminal. It may be present since birth or may occur ...
Shvartsbeyn Marianna - - 2012
Background: Mutation in the folliculin gene in Birt-Hogg-Dubé (BHD) syndrome leads to a spectrum of benign tumors of the hair follicle, classically including both fibrofolliculoma and trichodiscoma. In addition, lesions clinically indistinguishable from fibrofolliculoma/ trichodiscoma may show histopathologic findings of perifollicular fibroma or angiofibroma. Although some consider perifollicular fibroma to ...
Tincani Bruna J - - 2012
To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group. The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were ...
Franks Stephen - - 2012
Excess male-pattern body hair in women is a very common and psychologically damaging condition. Although its cause is usually a chronic and benign disorder (most commonly polycystic ovary syndrome) it may rarely be an indication of a more serious endocrine disease such as Cushing syndrome or an androgen-secreting tumour. Investigations ...
T Nguyen - - 2012
Tricho-dento-osseous (TDO) syndrome is an autosomal dominant trait characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. Genetic studies have identified a 4-bp deletion in the DLX3 gene that is associated with TDO; however, phenotypic characterization and classification of ...
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