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Boskovski Marko T MT Department of Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA; Section of Plastic Surgery, Yale School of Medicine, New Haven, - - 2014
This article presents the history of the discovery of compression of the median nerve in the carpal tunnel without an identifiable cause as a distinct clinical entity. By analyzing primary sources, we show that, at the beginning of the twentieth century, physicians described patients with paresthesias and numbness in the hands, most ...
Boskovski Marko T MT Section of Plastic Surgery, Yale School of Medicine, New Haven, - - 2014
This article presents the history of acroparesthesia and its contribution to the discovery of idiopathic carpal tunnel syndrome (CTS). We used primary sources from the middle of the nineteenth century onward to show that the first short descriptions of patients with nocturnal and early morning paresthesias, numbness, pain, and weakness ...
Castroneves Luciana A LA Thyroid Program of the Division of Endocrinology (L.A.C., R.H.J., M.A.M., J.S.L., A.J.W., C.C.G., H.D.S., N.Y.L., S.A.H.), the Clinical Research Center (H.A.F), and the Department of Laboratory Medicine (R.W.P., C.H., M.D.K) of Boston Children's Hospital, Boston, MA 02115; the Thyroid Section of the Division of Endocrinology, Diabetes, and Hypertension (S.A.H.), the Department of Pathology (D.D., A.T.A.), and the Division of Gastroenterology (C.U., V.D., A.D.) of the Brigham and Women's Hospital, Boston, MA 02115; the Harvard Neurodiscovery Center (L.D.) in Boston, MA 02115; the Dana Farber Cancer Institute (R.T. B., S.A.H.), Boston, MA 02115; the Division of Endocrinology (K.R.V.) of Beth Israel Deaconess Medical Center, Boston, MA 02115; and the Department of Molecular and Clinical Endocrinology and Oncology (C.L., D.S., M.D.), University of Naples Federico II, 80131 Naples, - - 2014
Type 3 deiodinase (D3), the physiologic inactivator of thyroid hormones, is induced during tissue injury and regeneration. This has led to the hypotheses that D3 impacts injury tolerance by reducing local T3 signaling and contributes to the fall in serum triiodothyronine (T3) observed in up to 75 of sick patients ...
Kauser Hina H Department of Ophthalmology, Hamdard Institute of Medical Sciences & Research, Hamdard University, New Delhi, - - 2014
The classical phenotype of Miller Fisher syndrome is characterized by ophthalmoplegia, ataxia and areflexia. However, less extensive forms have been described. The authors report a 14-y-old boy with positive anti-GQ1b antibodies with unusual clinical findings. He presented with headache, double vision and vomiting for 7 d. Examination revealed complete opththalmoplegia, ...
Janmohammadi Nasser N Department of Orthopedics, Mobility Impairment Research Center, Babol Medical Sciences Center, Babol, Iran. - - 2014
Numerous causes are reported for ulnar nerve compression at the wrist, known as Guyon's tunnel syndrome. In the present article, a patient with Guyon's tunnel syndrome during pregnancy concomitant with an anomaly of ulnar nerve is described. A 29-year-old Iranian woman presented with clinical features of Guyon's tunnel syndrome (pain ...
Ghasemi-Rad Mohammad M Mohammad Ghasemi-rad, Andrea Vegh, Adam Akkad, Emal Lesha, Mohammad Hossein Mohammadi, Anwarul Hasan, Center for Biomedical Engineering, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Cambridge, MA 02139, United - - 2014
Carpal tunnel syndrome (CTS) is the most commonly diagnosed disabling condition of the upper extremities. It is the most commonly known and prevalent type of peripheral entrapment neuropathy that accounts for about 90% of all entrapment neuropathies. This review aims to provide an outline of CTS by considering anatomy, pathophysiology, ...
Munro Monique M Section of Ophthalmology (MM, FC, RY), Department of Surgery, University of Calgary, Calgary, Alberta, Canada; Departments of Clinical Neurosciences (FC) and Radiology (DB), University of Calgary, Calgary Alberta, Canada; and Mitchell Eye Centre, Southern Alberta Eye Center, Calgary, Alberta, - - 2014
: Maffucci syndrome is a rare disease process characterized by enchondromatosis with cutaneous hemangiomatosis. We report a 20-year-old woman with Maffucci syndrome with a 5-day history of diplopia. She was found to have a left sixth nerve palsy due to a parasellar chondrosarcoma. Three weeks later, the patient's diplopia spontaneously ...
Bran Gregor M GM Department of Otorhinolaryngology-Head and Neck Surgery, Center for Plastic and Reconstructive Head and Neck Surgery, Dr. Horst Schmidt Kliniken, Ludwig-Erhard-Straße 100, 65199, Wiesbaden, Germany, - - 2014
Post-paralytic facial nerve syndrome (PFS) summarizes specific symptoms that result from an incomplete or poor recovery of the facial nerve after peripheral facial palsy. Selective chemodenervation using botulinum toxin A (Btx A) and mime therapy represent the therapeutic standard for treating PFS. We report on a 35-year-old male who was ...
Sunga Mary Anne P MA Department of Neurology and Psychiatry, University of Santo Tomas Hospital, España, Manila, - - 2014
With the increasing understanding of the involvement of basal ganglia circuits in the functions of movement, cognition, emotion and motivation, the network model of dystonia posits a plausible mechanism for the co-occurrence of mental dysfunctions in dystonia-plus syndromes. Genetic mutations that alter the production of neurotransmitters and receptors can potentially ...
Cerrato Felecia E FE Boston, Mass. From the Department of Plastic and Oral Surgery, Boston Children's Hospital and Harvard Medical - - 2014
Pfeiffer syndrome is characterized by craniosynostosis and a variety of associated upper and lower extremity anomalies. The authors reviewed presentation and treatment of upper extremity anomalies in a series of genotyped patients with Pfeiffer syndrome. Medical records of patients with Pfeiffer syndrome seen at the authors' institution over a 16-year ...
Sucher Benjamin M BM EMG Labs of Arizona Arthritis & Rheumatology Associates, 4550 East Bell Road, #170, Phoenix, AZ 85032, USA. Electronic address: - - 2014
Carpal tunnel syndrome (CTS) is a common median nerve compression syndrome and the most common peripheral mononeuropathy. The clinical syndrome is diagnosed by history and physical examination. Electrodiagnostic testing is the objective method used to measure median nerve dysfunction at the wrist and confirm the clinical diagnosis of CTS. Neuromuscular ...
Peters Sarika U SU 1Department of Pediatrics, Vanderbilt University, Nashville, TN, - - 2014
Normal levels of the methyl CpG-binding protein 2 (MeCP2) are critical to neurologic functioning, and slight alterations result in intellectual disability and autistic features. It was hypothesized that children with MECP2 duplication (overexpression of MeCP2) and Rett syndrome (underexpression of MeCP2) would exhibit distinct electroencephalographic (EEG) indices of auditory stimulus ...
Franz Torsten T Hand Surgery Service, Department of Surgery, Uster Hospital, Uster, Switzerland; Department of Plastic and Hand Surgery, Inselspital, University Hospital of Bern, Bern, - - 2014
Carpal tunnel syndrome is the most common entrapment neuropathy in the upper extremity. A rare case of carpal tunnel syndrome due to solitary osteochondroma arising from the metaphysis of the distal radius is presented. Preoperative diagnosis was suspected by physical examination and high-resolution sonography and confirmed by radiographs. Surgical treatment ...
Vyšata O O Department of Computing and Control Engineering, Institute of Chemical Technology, Technická 5, 166 28, Prague 6, Czech - - 2014
Studies have shown slow healing of peripheral nerve injury in elderly patients. Carpal tunnel syndrome (CTS) is the most frequent compressive mononeuropathy, affecting mostly older people and females. Few studies have assessed electrophysiological differences between younger and older patients. We aimed to evaluate age-dependent differences in electrophysiological parameters preoperatively and ...
Srinivas Sahana M SM Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, - - 2014
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS.
Bettini Laura Rachele LR Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit, San Gerardo Hospital, Monza, - - 2014
Cornelia de Lange syndrome (CdLS) is a complex genetic disease with skeletal involvement mostly related to upper limb malformations. We report on three males with clinical and molecular diagnoses of CdLS. Besides typical CdLS features, all showed different cervical spine malformations. To the best of our knowledge, this is an ...
Yiyit Nurettin N Department of Thoracic Surgery, GMMA Haydarpasa Training Hospital, Istanbul, Turkey. Electronic address: - - 2014
Poland's syndrome is a rare congenital anomaly characterized by an absence or hypoplasia of the greater and smaller pectoral muscles, breast or nipple anomalies, hypoplasia of subcutaneous tissue, chest wall deformities, pectoral and axillary alopecia, and hand anomalies. Poland's syndrome is usually unilateral. We present 8 patients with multiple bilateral ...
Dalla Bella Eleonora E Headache and Neuroalgology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, , Milan, - - 2014
To describe a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome associated with a heterozygous D90A mutation in superoxide dismutase (SOD1) gene. The patient underwent neurological and neurophysiologic examinations, including blink and jaw reflexes, sural nerve and skin biopsies, and analysis of TARDBP, FUS and C9ORF72 genes. Neurological examination ...
Steiner Adrian A Vetsuisse-Faculty, Farm Animal Clinic, University of Bern, Bremgartenstrasse 109a, Bern 3012, Switzerland. Electronic address: - - 2014
Contracted flexor tendon leading to flexural deformity is a common congenital defect in cattle. Arthrogryposis is a congenital syndrome of persistent joint contracture that occurs frequently in Europe as a consequence of Schmallenberg virus infection of the dam. Spastic paresis has a hereditary component, and affected cattle should not be ...
Lui Tun Hing TH Department of Orthopaedics and Traumatology, North District Hospital, Sheung Shui, New Territory, Hong Kong Special Administrative Region, People's Republic of China. Electronic address: - - 2014
Anterior tarsal tunnel syndrome is a rare entrapment neuropathy of the deep peroneal nerve beneath the inferior extensor retinaculum of the ankle. We report a patient with anterior tarsal tunnel syndrome who was successfully treated with endoscopic anterior tarsal tunnel release. Our endoscopic technique, because it preserves the inferior extensor ...
Chen Shih-Heng SH Christine M. Kleinert Institute for Hand and Microsurgery, Louisville, - - 2014
Ulnar neuropathy at or distal to the wrist, the so-called ulnar tunnel syndrome, is an uncommon but well-described condition. However, diagnosis of ulnar tunnel syndrome can be difficult. Paresthesias may be nonspecific or related to coexisting pathologies, such as carpal tunnel syndrome, cubital tunnel syndrome, thoracic outlet syndrome, C8-T1 radiculopathy, ...
Agrawal Ashish - - 2014
Endogenous erythroid colony (EEC) syndrome comprise of three cardinal features, i.e. ectrodactyly, ectodermal dysplasia and cleft lip. EEC itself has three different forms. Ectrodactyly (absence of one or more digits) can be present with clefting in the proximal portion of hand or foot known as split hand foot malformation (SHFM) ...
Hur Mi-Sun MS Department of Anatomy, Kwandong University College of Medicine, Gangneung, South - - 2014
The flexor digitorum accessorius longus (FDAL), a variant leg muscle, can cause tarsal tunnel syndrome. This study was performed to classify the variants of the FDAL by dissection and to correlate the dissection results with clinical cases of tarsal tunnel syndrome caused by this muscle. Eighty lower limbs of embalmed ...
Onuma Kenji K Department of Orthopaedic Surgery, Kitasato University School of Medicine , Sagamihara, Kanagawa , - - 2014
Abstract Gouty tophi are an uncommon cause of carpal tunnel syndrome. We describe a case of bilateral carpal tunnel syndrome due to gouty tophi. Gouty tophi in the right wrist developed slowly, but developed acutely in flexor tendons in the left wrist. Symptoms were numbness and finger movement dysfunction in ...
Mele Caterina C IRCCS Istituto di Ricerche Farmacologiche "Mario Negri", Clinical Research Center for Rare Diseases "Aldo e Cele Daccò", Via Camozzi, 3, Ranica, Bergamo, 24020, - - 2014
Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy defined by thrombocytopenia, nonimmune microangiopathic hemolytic anemia, and acute renal failure. The most frequent form is associated with infections by Shiga-like toxin-producing bacteria (STEC-HUS). Rarer cases are triggered by neuraminidase-producing Streptococcus pneumoniae (pneumococcal-HUS). The designation of aHUS is used to refer to ...
Zyluk A A Department of General and Hand Surgery, Pomeranian Medical University, Szczecin, - - 2014
Recent studies have demonstrated ultrasonography as a valuable tool for confirming the diagnosis of carpal tunnel syndrome. The objective of this study was to investigate sonographic parameters of the median nerve in patients diagnosed clinically with carpal tunnel syndrome.185 wrists in 185 patients, 149 women (81%) and 36 men (19%), ...
Chang Hye Jin HJ Department of Pediatrics, Seoul National University College of Medicine, Seoul, - - 2014
Hemolytic uremic syndrome (HUS) is one of the most common causes of acute renal failure in childhood and is primarily diagnosed in up to 4.5% of children who undergo chronic renal replacement therapy. Escherichia coli serotype O157:H7 is the predominant bacterial strain identified in patients with HUS; more than 100 ...
Algahtani Hussein H College of Medicine, King Saud bin Abdualziz University for Health Sciences, Jeddah, Saudi Arabia. Electronic address: - - 2014
Carpal tunnel syndrome is the most common focal peripheral neuropathy seen in most electrophysiological laboratories. Although the incidence of carpal tunnel syndrome in adults is 50 to 150 cases per 100,000 people, it is rare in children. There are less than 200 case reports of carpal tunnel syndrome in children, ...
Kim Jae Hyoung JH 1Department of Radiology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, - - 2014
Duane retraction syndrome consists of abduction deficit and palpebral fissure narrowing, upshoots, or downshoots on adduction. Infants with abduction deficit should be considered to have Duane retraction syndrome until disproven, because congenital abducens nerve palsy is extremely rare. The abducens nerve on the affected side is absent in type 1 ...
Kühn Andrea A AA 1Department of Neurology, Charité-University Medicine, Berlin, - - 2014
Myoclonus dystonia syndrome is often misdiagnosed in young children and appropriate treatment is delayed, which has a negative impact on motor development, participation, and emotional well-being. In severely affected patients, deep brain stimulation of the globus pallidus internus has been used successfully to treat both dystonia and myoclonus. Here, the ...
Rasmussen Eva Rye ER Department of Otorhinolaryngology Head and Neck Surgery, Koege Hospital, Koege, - - 2014
Ramsay Hunt syndrome is defined by herpes zoster oticus and peripheral facial nerve palsy which is often associated with otalgia. The syndrome is, in rare cases, associated with other cranial nerve paralyses including the vagal nerve causing unilateral vocal cord paralysis. Vocal cord paralysis is more often seen as a ...
Elsaftawy Ahmed - - 2014
Abstract Acute compartment syndrome is caused due to a sudden increase in the tissue pressure in a given fascial compartment. Missed and undiagnosed or not treated in time can lead to irreversible damage to limb muscles and nerves due to ischemia mechanism. This paper presents a case of a patient ...
Dalton David M DM University Department of Orthopaedic Surgery, Galway University Hospital, Galway, - - 2014
Acute spontaneous compartment syndrome of the forearm is rarely reported in the literature. It is typically associated with trauma or thromboembolism in the acute setting and repetitive exertional stress in the chronic setting. However it is rare for it to present bilaterally with no apparent underlying cause. We report the ...
Al Faleh Khalid K Division of Neonatology, Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi - - 2014
Poland's syndrome comprises a spectrum of chest-wall deformities affecting, to various degrees, the rib cage, the chest-wall muscles, neurovascular structures of the ipsilateral arm and the overlying breast. We present a neonate with features of depressed right chest-wall with no respiratory distress. Computed tomography showed hypolasia of the right pectoralis ...
Alaygut Demet D Department of Pediatric Nephrology, Dokuz Eylül University Faculty of Medicine, ─░zmir, Turkey. - - 2014
Tubulointerstitial nephritis (TIN) refers to a group of heterogeneous diseases affecting the interstitial compartment of the kidney. It might be primary or can develop secondary to many urinary systemic diseases. Primary TIN develops mainly following drug usage, exposure to toxins, and also infections and humoral and cell-mediated immune reactions. In ...
- - 2013
We report a case of a 23-year-old man diagnosed with overlapping Bickerstaff brainstem encephalitis (BBE) and Guillain-Barre syndrome (GBS). The patient initially presented with fever and headache and gradually developed ataxia, disturbance of consciousness, respiratory muscle paralysis, bilateral facial paralysis and quadriplegia accompanied by significant atrophy of limb, temporalis and ...
Operario Darwin J DJ University of Virginia Health System, Division of Infectious Diseases and International Health, Charlottesville, Virginia, - - 2013
We report a case of hemolytic uremic syndrome in a 69-year old woman due to Shiga toxin-producing Escherichia coli, possibly serotype O111, to illustrate the potentially deleterious implications of a Campylobacter EIA result and the increasing importance of molecular testing when conventional methods are limited.
Synofzik Matthis M  1 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, - - 2013
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic basis of these two syndromes, demonstrating that both clinically distinct entities are allelic for recessive mutations in the gene PNPLA6. ...
Kruer Michael C MC Sanford Children's Health Research Center, Sioux Falls, SD, USA; Division of Pediatric Neurology, Sanford Children's Specialty Clinic, Sioux Falls, SD, - - 2013
Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11. Among these, ATP13A2 and PLA2G6 are inconsistently associated with brain iron deposition. Using homozygosity mapping ...
Logullo Francesco F Department of Experimental and Clinical Medicine, Neurological Clinic, Marche Polytechnic University, Ancona, Italy, - - 2013
Anterior tarsal tunnel syndrome (ATTS) is a rare entrapment neuropathy of the deep peroneal nerve beneath the extensor retinaculum on the top of the ankle. ATTS is often asymptomatic or olygosymptomatic. There are few reports describing the ATTS. We describe the clinical and electrophysiological features of 85 patients with unilateral ...
De Franco P - - 2013
Bifid median nerve is an anatomic variation that occurs in about 18% of patients with symptoms suggestive of carpal tunnel syndrome and in about 15% of symptom-free subjects. Reversed palmaris longus is a rare anatomic muscular variation. The simultaneous presence of a bifid median nerve and a reversed palmaris longus ...
Lawson Victoria H - - 2013
Myotonic dystrophy type 1 (DM1) is highly variable systemic disorder with prominent myopathic involvement in distal limb, facial, and jaw muscles. Bent spine syndrome presents a diagnostic challenge, and usually, DM1 is not included in the differential. We report 2 cases of DM1 with bent spine syndrome. To further investigate ...
Kang Jung Hoon JH Department of Rehabilitation, Chosun University College of Medicine, Gwangju, - - 2013
Tapia syndrome is a rare entity characterized by unilateral paralysis of the tongue and vocal cord caused by X(th) and XII(th) cranial nerve lesions. However, there has been no report of Tapia syndrome immediately following spine surgery. A 47-year-old man underwent posterior decompressive laminectomy for cervical stenosis. The surgery took ...
Tang Xiao-Jun XJ Department of Maxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 33 Ba-Da-Chu Road, Shi-Jing-Shan, Beijing 100144, - - 2013
Parry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare developmental disorder characterized by progressing unilateral facial atrophy slowly, which may affect the skin, fat, muscle and bone. It can also be associated with different systemic manifestations and deformities. In this article, we present the two cases with Parry-Romberg ...
Rosove Michael H MH UCLA Division of Hematology-Oncology, David Geffen School of Medicine at the University of California, 100 UCLA Medical Plaza, Suite 550, Los Angeles, CA 90095. Electronic address: - - 2013
To review the clinical features and pathophysiologic mechanisms of the thrombotic microangiopathies (TMAs) including acquired and congenital thrombotic thrombocytopenic purpura (TTP), Shiga toxin-induced and atypical (non-Shiga toxin-induced) hemolytic uremic syndrome (HUS), and the TMAs associated with pregnancy, drugs, and organ transplantation. PubMed Medline was used to identify articles published from ...
Manfield Laura - - 2013
Carpal tunnel syndrome is typically diagnosed from history and physical examination then confirmed with electrodiagnosis. Electrodiagnosis provides only limited anatomic information and evaluation of space-occupying lesions. The authors present two cases in which demonstrated flexor pollicis longus tenosynovitis coexistent with carpal tunnel syndrome was diagnosed with ultrasonography. Ultrasonography is an ...
Davis Lamar - - 2013
Carpal tunnel syndrome or median neuropathy at the wrist is a rare condition in children. Of the reported patients with carpal tunnel syndrome, mucopolysaccharidoses and the mucolipidoses are the most common causes. We report 13 patients between the ages of 2 and 17 years of age with carpal tunnel syndrome. Mucopolysaccharidoses ...
Amorim Simone - - 2013
Introduction: SPOAN syndrome (spastic paraplegia, optic atrophy, and neuropathy), is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family. Methods: 27 patients with SPOAN syndrome (20 women) aged 4 to 58 years underwent nerve conduction studies (NCS) of median, ulnar, tibial, and fibular nerves and sensory NCS ...
Abichandani Sagar - - 2013
The authors wished to evaluate the comprehensive literature on carpal tunnel syndrome to discover work specific to carpal tunnel syndrome among dentists in order to determine whether there is any correlation with dentists having a higher prevalence of its occurrence. A review of dental literature involving carpal tunnel syndrome was ...
Potulska-Chromik Anna - - 2013
Carpal tunnel syndrome rarely occurs in children. We retrospectively analyzed clinical data of 11 patients aged 5-17 diagnosed with carpal tunnel syndrome at a single pediatric neuromuscular center. Nerve conduction studies were performed according to the American Association of Electrodiagnostic Medicine recommendations. Additional imaging tests of the wrist were performed ...
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