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Dayal Devi D Departments of Pediatrics, #Nuclear Medicine and $Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. - - 2014
This record review of 82 children with Down Syndrome (DS) between April 2004 and March 2014 who had thyroid dysfunction, showed that majority (76, 92.6%) had subclinical hypothyroidism. Of the 60 patients who underwent radionuclide scan, 63.3% had a normal gland; the rest exhibited only impaired tracer uptake. Ultrasonograms done ...
Dumbre Patil Sampat S Director and Head, Orthopedic Department, Noble Hospital, Hadapsar, Pune, Maharashtra, India. Electronic address: - - 2014
High-energy trauma associated with calcaneal fracture or Lisfranc fracture dislocation and midfoot crushing injuries are known causes of compartment syndrome in the foot. Suppurative infection in the deep osseofascial compartments can also cause compartment syndrome. We describe the case of a 29-year-old female who had developed a suppurative local infection ...
Schreiber Adam L AL Department of Rehabilitation Medicine, Jefferson Rehabilitation Medicine Associates, Jefferson Medical College, Thomas Jefferson University, 25 South 9th Street, 1st Floor, Philadelphia, PA 19107, USA. Electronic address: - - 2014
This article describes 2 nonsurgical approaches to the treatment of carpal tunnel syndrome that are not routinely offered, probably due to a lack of awareness. Osteopathic manipulative treatment (OMT) is commonly used for many medical problems, including musculoskeletal issues. OMT of the carpal tunnel is well described and researched, and ...
Lee Dong Hyun DH Departments of Nuclear Medicine and Molecular Imaging, Ajou University School of Medicine, 164, World cup-ro, Yeongtong-gu, Suwon, 443-380 Republic of - - 2014
We investigated the relation between carotid artery FDG uptake and cardiovascular risk based on the Framingham risk score (FRS) and evaluated the possible role of FDG uptake in terms of risk stratification of asymptomatic adults. We evaluated 290 adults who underwent FDG PET/CT as part of general health screens. We ...
Williams Christol - - 2014
Costello syndrome is a rare genetic disorder with an estimated 300 medical cases worldwide. Typical features that characterize this syndrome include short stature, macrocephaly, developmental delay, loose skin folds, distinctive coarse facial features, and multiorgan system anomalies. The following case report discusses the anesthetic management for a 3-year-old boy undergoing ...
Alfahad Tariq B TB Department of Neurology, George Washington University, Washington, - - 2014
Truncal sensory level (TSL) is a localizing sign for spinal cord pathology. However, in rare instances, lesions higher up in the spinothalamic tract can cause TSL. A 26-year-old woman presented with numbness from waist down with a T7 TSL on examination with negative spine magnetic resonance imaging. Later, the patient ...
Kargl Simon S From the Departments of *Pediatric Surgery, †Pediatric Anesthesiology and Critical Care Medicine, and ‡Pediatrics, Women's and Children's Hospital Linz, - - 2014
Ingestion of viscous lidocaine in children can lead to potentially lethal neurologic and cardiac effects. We report the case of a 2-year-old boy who developed posterior reversible encephalopathy syndrome 2 days after unobserved ingestion of about 500 mg viscous lidocaine (40 mg/kg of bodyweight). Initially, the child presented with convulsive ...
Gupta Neha N Department of Anaesthesia, M. L. B. Medical College, Jhansi, Uttar Pradesh, - - 2014
Dural ectasia is one of the likely causes of incomplete or failed spinal anaesthesia. Its association with diseases like Marfans syndrome, neurofibromatosis, osteogenesis imperfecta, vertebral fracture, postopertative adhesions, trauma etc., is often overlooked as a reason for inadequate spinal anaesthesia. Greater than normal volume of cerebrospinal fluid in the lumber ...
Abdalla Ebtesam Mohamed - - 2013
Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, ...
Baran R - - 2013
Hoigné syndrome is the most common name given to a condition which has been called in different ways. We want to show that an intralesional injection of prednisolone into the proximal nail fold may produce dorsal pain, dyspnoea and headaches within the 2 min following the injection and to explain the ...
Huang Ren-Yeong - - 2013
Intraoral anesthesia is probably the most commonly used procedure in dentistry. Although inferior alveolar nerve block (IANB) anesthesia is one of the safest procedures to anesthetize the mandibular teeth, side effects of IANB anesthesia can still give rise to potential risks for patients. Fortunately, most observed alterations are transient and ...
Ghatak Tanmoy T Department of Critical Care Medicine, SGPGIMS, Lucknow, Uttar Pradesh, - - 2013
Due to high mortality associated with aortic dissection, anesthetic management of patients with Marfan syndrome with severe aortic root dilation is a challenging situation. We describe the anesthetic management of a patient with Marfan syndrome with severe aortic root dilation, who required major surgery like cholecystectomy with partial liver resection ...
Tsao Bryan E - - 2013
Introduction: We report the electrodiagnostic (EDX) features of 32 patients with surgically-verified true neurogenic thoracic outlet syndrome (TN-TOS). Methods: Retrospective record review. Results: We found uniform EDX evidence of a chronic axon loss process that affected the lower portion of the brachial plexus and that disproportionately involved the T1 more ...
Basuthakur Sumitra - - 2013
A young male presented with clinical and radiological features of right apical lung mass and Horner's syndrome. Subsequently the patient was diagnosed as a case of malignant peripheral nerve sheath tumour (MPNST) at the apex of right lung originating from an intercostal nerve and compressing ipsilateral cervical sympathetic plexus and ...
Hall Jill J - - 2013
Drug interactions involving human immunodeficiency virus protease inhibitors are common due to their inhibition of the cytochrome P450 3A4 isoenzyme. We describe the case of an HIV-infected patient treated with ritonavir-boosted darunavir who developed cushingoid features following an intra-articular injection of triamcinolone acetate. We review the probable mechanism for this ...
Varela-Centelles P - - 2013
A pilot study was performed to examine the presence of nerve fibres in minor salivary gland tissue samples obtained by two procedures: punch and linear incisional techniques. The study was undertaken on a convenience sample of five cryopreserved corpses (mean age 74±3.5 years; three males and two females). Biopsies were ...
Nikkar-Esfahani A - - 2013
Background: Conductive hyperacusis in superior semicircular canal dehiscence syndrome occurs due to the presence of a 'third window' created by the dehiscence. Reversible blocking of the round window can, in theory, cause a reduction in the compression-related volume displacement, and thereby minimise symptoms of conductive hyperacusis. This study describes a ...
Murthy Praveen G - - 2013
Operative intervention for recalcitrant carpal tunnel syndrome often utilizes local vascularized tissue to provide coverage of the median nerve in an attempt to limit scarring or adherence of the nerve to its surrounding structures. Although the hypothenar fat pad is the most commonly cited source of vascularized tissue, alternative options ...
Kim Gi Beom - - 2013
A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found ...
Sharma Sanjay - - 2013
We have described the occurrence of Morvan syndrome (MoS) after scrotal tap and injection of sclerosing agent for the treatment of hydrocele in 5 male. The mean age was 43.2 years, and the gap between the procedure and development of clinical features suggestive of MoS was 1.5-3 months. The neurophysiology ...
Witzmann F - - 2013
Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations ...
Santhosh Mysore Chandramouli Basappji - - 2013
Interscalene block is commonly associated with reversible ipsilateral phrenic nerve block, recurrent laryngeal nerve block, and cervical sympathetic plexus block, presenting as Horner's syndrome. We report a very rare Pourfour Du Petit syndrome which has a clinical presentation opposite to that of Horner's syndrome in a 24-year-old male who was ...
Hagiya Hideharu - - 2013
An 88-year-old man died of streptococcal toxic shock syndrome due to a group G streptococcus infection that was possibly caused by an intramuscular injection given 30 hours earlier in his right deltoid muscle. The causative pathogen was later identified to be Streptococcus dysgalactiae subsp. equisimilis (stG485). Although providing intramuscular injections ...
Leary Joyce - - 2013
Epidural steroid injections are well accepted as a treatment for radicular back pain in appropriate candidates. While overall incidence of systemic side effects has not been well established, at least five biochemically proven cases of iatrogenic Cushing's Syndrome have been reported as complications of epidural steroid treatment. We present an ...
Marsh Chad A - - 2012
Objective-To determine treatment outcome on the basis of pathological changes identified on MRI and lameness duration in horses with navicular syndrome that underwent injection of corticosteroid and hyaluronan into the navicular bursa. Design-Retrospective case series. Animals-101 horses with navicular syndrome. Procedures-Medical records of horses with signs of navicular syndrome evaluated ...
Sinha Shiba S Pinderfields General Hospital, Aberford Road, Wakefield, England, United Kingdom. - - 2013
We describe the largest reported epineural ganglion of the ulnar nerve arising in the cubital tunnel. A 54-year-old male, driver presented with progressive symptoms of left sided cubital tunnel syndrome. Surgery demonstrated a 11 × 3 cm ganglion which was successfully removed. Post-operatively the patient demonstrated partial recovery with no recurrence of the ...
Kharb Sandeep - - 2012
An 82-year-old male, a known case of severe osteoporosis with vertebral fracture and prostatic carcinoma, was treated with gonadotropin releasing hormone analogue, calcium carbonate, cholecalciferol sachet and injection teriparatide. His diet consisted of milk and curd. He developed altered behavior and generalized weakness, and on investigation, hypercalcemia, hypokalemia, and metabolic ...
Grati M'hamed - - 2012
Usher syndrome is the leading cause of genetic deaf-blindness. Monoallelic mutations in PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and GPR98, which respectively encode usherin and GPR98. PDZ domain-containing 7 protein (PDZD7) is a paralog of the scaffolding proteins harmonin and whirlin, which ...
Nour Islam - - 2012
Linear nevus sebaceous syndrome is a multisystem disorder including nevus sebaceous, which is the hallmark of this syndrome, together with central nervous system, ocular and skeletal anomalies. We report a case of extensive skin lesions, CNS and eye anomalies in a full term infant who was conceived by intracytoplasmic sperm ...
Miao Zheng-You - - 2012
OBJECTIVE: To compare the effectiveness of first trimester, second trimester, and integrated screening for Down's syndrome. SETTING: Two prenatal diagnosis centres in China. METHODS: A total of 11,966 pregnant women (≥18 years) were screened over 21 months. First trimester screening (11-13 weeks) comprised measurement of serum free beta-human chorionic gonadotrophin ...
Jain Shivani - - 2012
This is a case report of Eagle's syndrome due to osseous metaplasia of the stylohyoid apparatus treated conservatively by injection of a local anesthetic - steroid combination. The incidence, etiopathogenesis, classification, clinical picture and various approaches to treatment of ossified stylohyoid ligament associated with Eagle's syndrome have been discussed. Anterolateral ...
Lalla Rakesh - - 2012
Purple glove syndrome is an uncommon but dreaded complication of intravenous phenytoin administration characterised by pain, oedema and purple-blue discolouration of the limb distal to the site of injection. We describe a 37-year-old gentleman having the characteristic purple glove appearance after phenytoin loading, and discuss the salient features of this ...
Oudrhiri Lamia - - 2012
We report a case of a 19-year-old girl who presented with 5-year history of swelling of upper lip and fissured tongue treated with dapsone then oral steroids without any improvement. Clinical examination found peripheral facial nerve paralysis and Labial mucosa biopsy showed non-necrotizing giganto-epithelioid granuloma. Diagnosis of Melkersson-Rosenthal syndrome was ...
Walid Trabelsi T Departement of Anesthesia and Intensive Care Unit, Tunisian Military Hospital, 1002 Tunis, - - 2012
Horner's syndrome results from paralysis of the ipsilateral sympathetic cervical chain (stellate ganglion) caused by surgery, drugs (mainly high concentrations of local anesthetics), local compression (hematoma or tumor), or inadequate perioperative positioning of the patient. It occurs in 100% of the patients with an interscalene block of the brachial plexus ...
Camargo Jose F JF Department of Medicine, Division of Infectious Diseases, New York Medical College, Valhalla, NY 10595, - - 2012
We report a rare case of orbital apex syndrome following epidural steroid injections of the lumbar spine in an immunocompetent individual with osteomyelitis and discitis caused by Aspergillus fumigatus. We suspect that the craniospinal venous system, also known as the Batson's plexus, was the main route for steroid-facilitated disease propagation ...
Youssef Doaa Mohammed - - 2011
Introduction. Upregulation of interleukin-2 may be involved, not only in the pathophysiology of nephrotic syndrome, but also in steroid resistance treatment, by increasing expression of multidrug resistant gene-1 (MDR1) gene on lymphocytes and its product P-glycoprotein effluxing corticosteroid. Our aim was to assess the relation of serum soluble interleukin-2 receptor ...
Pauley Kaleb M - - 2011
MicroRNAs (miRNAs), small non-coding RNA molecules that post-transcriptionally regulate gene expression, are known to play key roles in regulating immune responses and autoimmunity. We investigated miR-146a expression in Sjögren's syndrome (SjS) patients as well as in the SjS-prone C57BL/6.NOD-Aec1Aec2 mouse model, to elucidate its involvement in SjS pathogenesis. Expression of ...
Palmieri Annalisa - - 2011
Biodegradable fixation devices made of the polymers polylactide, polyglycolide and their copolymers are used routinely during maxillofacial, craniofacial, and orthopedic reconstructive surgical procedures, thanks to their property of biodegradation that avoid the need for implant removal. In particular, they are used in the treatment of craniosynostosis in pediatric patients affected ...
Liu Xin - - 2011
PURPOSE OF REVIEW: Patients with chronic large granular lymphocyte (LGL) leukemia often have rheumatoid arthritis (RA), neutropenia and splenomegaly, thereby resembling the manifestations observed in patients with Felty's syndrome, which is a rare complication of RA characterized by neutropenia and splenomegaly. Both entities have similar clinical and laboratory presentation, as ...
Jang Won Cheoul - - 2011
SLC22A12 gene, encoding urate transport 1, has been known to be responsible to urate metabolism. This study sought to determine the association between the novel G109T polymorphism in SLC22A12 with serum uric acid and the development of metabolic syndrome in Korean male subjects. A total of 132 healthy male subjects ...
Akawi Nadia A - - 2011
Intrauterine growth retardation (IUGR) is a nonspecific finding that occurs in approximately 0.17% of all live-births. However, IUGR can also be a significant feature of many recognized genetic syndromes including Silver-Russel syndrome (SRS), Three M syndrome (3-M), Dubowitz syndrome, and Mulibrey nanism. Differentiation of 3-M syndrome from autosomal recessive SRS ...
Burkardt Deepika D'Cunha - - 2011
Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal-onset microcephaly and proportionate growth deficiency, ...
O'Sullivan James J Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester, - - 2011
Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal enamel formation. AI is found as an isolated entity or as part of a syndrome, and an autosomal-recessive syndrome associating AI and gingival hyperplasia was recently reported. Using whole-exome sequencing, we ...
Hills Christine B - - 2011
Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation in the EVC or EVC2 genes. Common atrium (CA) is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC. We performed a retrospective review of the cases submitted to ...
Techanukul Tanasit - - 2011
Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 ...
Johnson Arlen W - - 2011
Mutations in the human SBDS (Shwachman-Bodian-Diamond syndrome) gene are the most common cause of Shwachman-Diamond syndrome, an inherited bone marrow failure syndrome. In this issue of Genes & Development, Finch and colleagues (pp. 917-929) establish that SBDS functions in ribosome synthesis by promoting the recycling of eukaryotic initiation factor 6 ...
Engelen Erik E Department of Cell Biology, Erasmus Medical Center (MC), Rotterdam, The - - 2011
The HMG-box transcription factor Sox2 plays a role throughout neurogenesis and also acts at other stages of development, as illustrated by the multiple organs affected in the anophthalmia syndrome caused by SOX2 mutations. Here we combined proteomic and genomic approaches to characterize gene regulation by Sox2 in neural stem cells. ...
Bruce Kimberley D KD Developmental Origins of Health and Disease Division, Institute of Developmental Sciences, University of Southampton School of Medicine, Southampton, UK. - - 2011
The metabolic syndrome (MetS) represents a cluster of cardiometabolic risk factors, including central obesity, insulin resistance, glucose intolerance, dyslipidemia, hypertension, hyperinsulinemia and microalbuminuria, and more recently, nonalcoholic fatty liver disease (NAFLD), polycystic ovarian syndrome (PCOS) and atherosclerosis. Although the concept of the MetS is subject to debate due to lack ...
Chopra Nagesh N Division of Cardiology, Department of Medicine, Oates Institute for Experimental Therapeutics, Vanderbilt University School of Medicine, Nashville, TN 37232, - - 2011
To survey recent developments in the field of genetics encompassing discovery of new candidate genes, new diagnostic strategies, and new therapies for sudden cardiac death (SCD) syndromes. In addition to new mutations in known SCD genes, several novel genes not previously implicated in SCD causation have been found, particularly in ...
Potti Tommy A - - 2011
The NOG gene encodes noggin, a secreted polypeptide that is important for regulating multiple signaling pathways during human development, particularly in cartilage and bone. The hallmark of NOG-related syndromes is proximal symphalangism, defined by abnormal fusion of the proximal interphalangeal joints of the hands and feet. Many additional features secondary ...
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