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Singer Ora O Division of Rheumatology, University of Michigan, 300 North Ingalls Street, Suite 7C27, Ann Arbor, MI 48109-5422, USA. Electronic address: - - 2015
Cogan and Behcet syndromes are considered large vessel vasculitides. Both are rare diseases, with varied clinical manifestations affecting multiple organ systems. Although both have hallmark symptoms (ocular and vestibuloauditory inflammation in Cogan syndrome and aphthous ulcers in Behcet syndrome), neither has confirmatory diagnostic testing. Delayed diagnosis can result in poor ...
Pistoia Francesca F Neurological Institute, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, 67100, L'Aquila, Italy, - - 2015
Disorders of consciousness (DOCs) include coma, vegetative state (VS), and minimally conscious state (MCS). Coma is characterized by impaired wakefulness and consciousness, while VS and MCS are defined by lacking or discontinuous consciousness despite recovered wakefulness. Conversely, locked-in syndrome (LIS) is characterized by quadriplegia and lower cranial nerve paralysis with ...
Tadokoro-Cuccaro Rieko R Department of Paediatrics, Addenbrooke's Hospital, University of Cambridge, Cambridge, - - 2014
Androgen insensitivity syndrome (AIS) can present with a wide range of phenotypes, and its management requires a multidisciplinary approach from diagnosis in infancy to adulthood. This review provides an update on some clinical and genetic aspects in AIS. Additional outcome data on surgical and psychosexual findings are presented, together with ...
Yang Linlin L Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, - - 2014
The hyper-IgE syndromes have been recognized as a group of primary immunodeficiencies characterized by eczema, recurrent skin and lung infections, and elevated serum IgE. Recently, mutations in phosphoglucomutase 3 (encoding PGM3, which is involved in the protein glycosylation pathway) have been identified in autosomal recessive forms of hyper-IgE syndromes. Autosomal ...
Peixoto Isy Lima IL Amazonas Federal University, Manaus, AM, - - 2014
Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and ...
Dogan Ali A Departments of Orthopedics and - - 2014
Abstract Macrodactyly is a rare congenital deformity of the extremities, and with clinodactyly is even rarer. Both conditions may also be associated with a lipofibromatous hamartoma of the median nerve. We report an adult woman with clinodactyly and macrodactyly of the fourth and fifth fingers of her left hand associated ...
Hughes Michael S MS Harvard University (MSH); University of Saskatchewan (EJA); Massachusetts Eye and Ear Infirmary (DMC, RCS); and Massachusetts General Hospital (FH), Boston, - - 2014
: Central nervous system infiltration of Waldenström's macroglobulinemia is referred to as Bing-Neel Syndrome. We describe 2 patients whose clinical presentation was due to isolated involvement of the anterior visual pathways. The mechanism of visual failure in Bing-Neel Syndrome may involve both infiltrative and autoimmune processes.
Butler Daniel P DP London, United Kingdom From the Department of Plastic and Reconstructive Surgery, The Royal Free - - 2014
Congenital facial palsy can result in significant disfigurement. A potential treatment option is free functional muscle transfer to reanimate the face. For this to be possible, a suitable recipient artery and vein must be present in the affected hemiface. In this study, the authors aim to identify whether patients with ...
Lefter Stela S *Department of Neurology, Cork University Hospital, Cork, Ireland; †Department of Neurology, Beaumont Hospital, Dublin, Ireland; ‡Mater Private Hospital, Dublin, Ireland; §Department of Neurology, Children's University Hospital, Dublin, Ireland; ¶Department of Neurology, Belfast City Hospital, Northern Ireland, United Kingdom; and ‖Department of Pathology, University College Cork, Cork, - - 2014
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic abnormalities. We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and neonatal focal seizures. He later developed ...
Cruz L L Department of Pediatrics, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, - - 2014
Mitchell-Riley syndrome/Martinez-Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis. Most reported cases have been associated with homozygous or compound heterozygous mutations in the RFX6 gene, a transcriptional regulatory factor for pancreatic morphogenesis. Given the limited number of reported cases, the syndrome may be ...
Cao Ruixue R 1 Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai, People's Republic of China - - 2014
Heterotaxy syndrome, which causes significant morbidity and mortality, is a class of congenital disorders, in which normal left-right asymmetry cannot be properly established. To explore the role of copy number variants (CNVs) in the occurrence of heterotaxy syndrome, we recruited 93 heterotaxy patients and studied 12 of them by the ...
Nagori Shakil Ahmed - - 2014
Langer-Giedion syndrome (trichorhinophalangeal syndrome type II) is an extremely rare disorder characterized by dysmorphic facial features, multiple exostoses, mental retardation and digit deformities. We report the first case of any maxillofacial pathology in such a syndromic patient. A 22-year-old Indian woman with mild intellectual disability presented with malaligned teeth. Routine ...
Jose Jean J Department of Radiology, University of Miami Miller School of Medicine, Miami, Florida (JJ, NMG)University of Miami Miller School of Medicine, Miami, Florida (KB)Department of Plastic Surgery, University of Miami Miller School of Medicine, Miami, Florida (CS)Department of Radiology, Jackson Memorial Medical Center, Miami, Florida - - 2014
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive condition that causes palmoplantar keratoderma and premature exfoliation of primary and secondary dentition. There are several diseases that can mimic PLS, and it is estimated that the disease is far more prevalent than documented but may either be misdiagnosed or not acknowledged. ...
Chen Yi-Hsing - - 2014
Kabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions. A 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical facial ...
Keithlin Jessica - - 2014
Understanding of chronic sequelae development after Campylobacter infection is limited. The objective of the study was to determine via systematic review and meta-analysis the proportion of Campylobacter cases that develop chronic sequelae. A systematic review of English language articles published prior to July 2011 located using Pubmed, Agricola, CabDirect, and ...
Garcia-Cazorla Angels A Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu and CIBERER, ISCIII, Barcelona, Spain, - - 2014
Over one hundred diseases related to inherited defects of complex lipids synthesis and remodeling are now reported. Most of them were described within the last 5 years. New descriptions and phenotypes are expanding rapidly. While the associated clinical phenotype is currently difficult to outline, with only a few patients identified, it ...
Celik Yılmaz Y Department of Gastroenterology, Medical Faculty, Yuzuncu Yıl University, Van, - - 2014
POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) is a rare multisystemic disease of unknown pathogenesis. Proinflammatory and proangiogenic cytokines play important roles in its pathogenesis. POEMS syndrome is a rare cause of ascites. Until now, the coexistence of POEMS syndrome and hepatitis B has not been reported. ...
Schultz Kris Ann P KA Cancer and Blood Disorders, Children's Hospitals and Clinics of Minnesota, Minneapolis, - - 2014
Growing teratoma syndrome is characterized by growth of mature teratoma elements of a mixed germ cell tumor despite resolution of immature/malignant elements with administration of chemotherapy. Surgical resection is the only known cure for growing teratoma syndrome but in the brain, complete resection may be impossible. In these instances, mature ...
Ali Khalid - - 2014
Retro-chiasmal lesions almost always give rise to homonymous field defects with only one exception. The nasal visual field extends to 60% of the horizon, whereas the temporal field extends to a further 30°-40° beyond that; this part of the visual field is represented on the contralateral anterior parieto-occipital sulcus. A ...
Lang Fabian U FU Department of Psychiatry II, Ulm University, Ludwig-Heilmeyer-Str. 2, 89312, Günzburg, Germany, - - 2014
A substantial overlap exists between catatonic phenomena and features of neuroleptic malignant syndrome. The objective of this study is to examine whether catatonia can be distinguished from neuroleptic malignant syndrome and to identify symptoms that may have discriminatory power. We conducted a literature search to identify relevant studies up to ...
Okamoto Toshio T Department of Pediatrics, Asahikawa Medical University, Hokkaido, - - 2014
Short-rib polydactyly syndrome type III is an autosomal recessive lethal skeletal ciliopathy, which is phenotypically similar to nonlethal asphyxiating thoracic dystrophy. Mutations in DYNC2H1 have been identified in both of these disorders, indicating that they are variants of a single disorder. However, short-rib polydactyly syndrome type III is the more ...
Kruszka Paul P Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, - - 2014
Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked form of the condition has been associated with mutations in the MID1 gene on Xp22. The autosomal dominant form has been ...
Papavassiliou Paulie P Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, - - 2014
The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. The primary topics discussed in this overview of the extant literature include the history of this condition and its diagnosis, the incidence of mosaicism, the meiotic and/or mitotic chromosomal malsegregation events resulting ...
Sinha Tanvi T Department of Cell, Developmental and Integrative Biology, University of Alabama at Birmingham, - - 2014
Outflow tract (OFT) malformation accounts for ∼30% of human congenital heart defects and manifests frequently in TBX1 haplo-insufficiency associated DiGeorge (22q11.2 deletion) syndrome. OFT myocardium originates from second heart field (SHF) progenitors in the pharyngeal and splanchnic mesoderm (SpM), but how these progenitors are deployed to the OFT is unclear. ...
Sung Ki Hyuk KH aDepartment of Orthopaedic Surgery, Myongji Hospital, Kyungki bDepartment of Bioinformatics, Korea University of Science and Technology cKorean Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon dDivision of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, - - 2014
Escobar syndrome is a nonlethal subtype of multiple pterygium syndromes, characterized by webbing across the joints, congenital joint contracture, facial dysmorphism and a variety of other congenital anomalies. We report orthopaedic manifestation and the treatment outcome of two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene.
Kumar Kshitiz K Dr. Agarwal's Retina Foundation and Dr. Agarwal's Eye Hospital, Chennai, - - 2014
To report ophthalmic features in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, an uncommon presentation. Case report. An 18-year-old Indian boy presented with progressive diminution of vision, night blindness, lenticular opacities, and midperipheral chorioretinal atrophy. Spectral domain optical coherence tomography revealed myopic foveoschisis, and Humphrey visual fields 30-2 showed peripheral field constriction. He had no ...
Bowen Juan M JM From the Divisions of Primary Care Internal Medicine (J.M.B.) and Cardiovascular Diseases (J.M.B., H.M.C.), Mayo Clinic, Rochester, - - 2014
Marfan's syndrome was once a disease of unknown cause, and those affected often died young from aortic dissection. Today, most patients with Marfan's syndrome who receive comprehensive care have a near-normal life expectancy. Initial therapeutic strategies evolved from clinical research done before the disease pathogenesis was understood. They include prophylactic ...
Jean-Marçais Nolwenn N Service de Génétique, Hôpital Universitaire de la Côte de Nacre, Caen, France; Service de Pédiatrie, Hôpital Universitaire de la Côte de Nacre, Caen, - - 2014
Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040). This disorder includes intellectual disability in all patients, skeletal abnormalities, including brachydactyly E (BDE) in approximately half, obesity, and facial dysmorphism. Patients with 2q37 microdeletion or HDAC4 mutation are defined as having an AHO-like phenotype ...
Webb Katie M KM Edward Via College of Osteopathic Medicine, Blacksburg, Virginia; East Alabama Medical Center, Opelika, Alabama, - - 2014
A 64-year-old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention ...
Smith Miriam J MJ Miriam J. Smith, Simon G. Williams, Sanjeev S. Bhaskar, James O'Sullivan, Beverley Anderson, Sarah B. Daly, Jill E. Urquhart, Zaynab Bholah, William G. Newman, and D. Gareth R. Evans, Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre, and Central Manchester University Hospitals National Health Service (NHS) Foundation Trust; Deemesh Oudit, Christie NHS Foundation Trust; Edmund Cheesman and Anna Kelsey, Central Manchester University Hospital NHS Foundation Trust, Royal Manchester Children's Hospital; Martin G. McCabe, Institute of Cancer Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom; and Christian Beetz, Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena, Jena, - - 2014
Heterozygous germline PTCH1 mutations are causative of Gorlin syndrome (naevoid basal cell carcinoma), but detection rates > 70% have rarely been reported. We aimed to define the causative mutations in individuals with Gorlin syndrome without PTCH1 mutations. We undertook exome sequencing on lymphocyte DNA from four unrelated individuals from families ...
Milone Marco - - 2014
Although Mirizzi syndrome is widely reported in literature, little is known about acute acalcholous cholecystitis determinig the findings of a Mirizzi syndrome. We report a case of MRCP-confirmed Mirizzi syndrome in acute acalculous cholecystitis resolved by surgery. Acute acalcholosus cholecystitis determinig a Mirizzi Syndrome should be included in the Mirizzi ...
Saldarriaga-Cantillo Alejandra A a Universidad del Valle, Medicina Familiar , Calle 4B 36-00 edificio 116, Cali 76001000 , - - 2014
Abstract Noah syndrome is a variant of Diogenes syndrome that presents as hoarding a large number of animals. Predisposing factors for developing this disorder are situations of psychosocial stress and loneliness. However, the medical conditions of the sufferer, which can represent the organic substrate for the development of this psychopathology, ...
Martis Nihal N Service de Médecine Interne, Centre Hospitalier Universitaire de Nice, 151 route de Saint-Antoine de Ginestière, 06200, Nice, - - 2014
Leishmaniasis caused by Leishmania infantum is endemic in the Mediterranean region. Its visceral form can present a diagnostic challenge owing to the disease's wide spectrum of clinical presentations. We describe the very atypical case of a 66-year-old male Caucasian patient with hepatopulmonary syndrome and an exceptionally rare expression of visceral ...
Poelzl Gerhard G Clinical Division of Cardiology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria, - - 2014
Accumulating evidence shows that acute as well as chronic heart disease can directly contribute to an acute or chronic worsening of liver function and vice versa. Description and definition of cardiohepatic syndrome (CHS) in this review are based on the cardiorenal syndrome (CRS) concept. The eye-catching analogy between CHS and ...
Mather Harriet - - 2014
This report describes the case of a 49-year-old man who presented to the hospice with severe neuropathic pain, cramps, muscle twitching, generalised sweating, insomnia and anxiety in the context of metastatic thymoma. The symptoms were exquisitely corticosteroid sensitive raising the possibility of an immunogenic aetiology. Morvan's syndrome, a paraneoplastic, immune-mediated ...
Gripp Karen W KW Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, and Sidney Kimmel Medical School at T. Jefferson University, Philadelphia, - - 2014
Lateral meningocele syndrome (LMS, OMIM%130720), also known as Lehman syndrome, is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS ...
Posey Jennifer E JE Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA, - - 2014
We describe an infant with popliteal pterygia, syngnathia, cleft lip and palate, and retrognathia diagnosed with popliteal pterygium syndrome (PPS). The neonatal course was complicated by severe obstructive apnea necessitating tracheostomy. Conclusion: This report illustrates the potential for airway compromise in PPS patients and the need for thorough neonatal airway ...
Kaga Akimune A Department of Pediatrics, Tohoku University Hospital, Sendai, Miyagi, - - 2014
Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down ...
van Huet Ramon A C RA Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The - - 2014
Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our detailed clinical observations in patients with MAK-associated RP, including an assessment of syndromic symptoms frequently observed in ciliopathies. In ...
Giannantoni Nadia Mariagrazia NM Institute of Neurology, Catholic University, Rome, Italy - - 2014
Sturge-Weber syndrome is a rare, sporadic, congenital neurocutaneous syndrome, likely due to abnormal development of the cephalic microvasculature. Symptoms and signs depend on the extent and location of the venous dysplasia. We describe a case of a 33-year-old woman presenting with drug-resistant epilepsy, chronic headache, and recurring nonepileptic seizures. Computed ...
Worbe Yulia Y 1 Centre de Référence National Maladie Rare 'Syndrome Gilles de la Tourette', Pôle des Maladies du Système Nerveux, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France 2 Sorbonne Universités, UPMC Université Paris 06, UM 75, ICM, F-75013 Paris, France 3 Assistance Publique Hôpitaux de Paris (APHP), INSERM, ICM, Centre d'Investigation Clinique Pitié Neurosciences, CIC-1422, Département des Maladies du Système Nerveux, Hôpital Pitié-Salpêtrière, Paris, France - - 2014
Gilles de la Tourette syndrome is a childhood-onset syndrome characterized by the presence and persistence of motor and vocal tics. A dysfunction of cortico-striato-pallido-thalamo-cortical networks in this syndrome has been supported by convergent data from neuro-pathological, electrophysiological as well as structural and functional neuroimaging studies. Here, we addressed the question ...
Otsubo Yoshikazu Y Department of Pediatrics, Sasebo City General Hospital , Sasebo, Nagasaki , - - 2014
Blau syndrome (BS) is an autosomal dominant autoinflammatory disease associated with NOD2 gene mutations. It is characterized by arthritis, skin rash, and uveitis. Here, we report contrasting outcomes of a daughter and her mother with BS. Their long-term follow-up revealed the efficacy of anti-tumor necrosis factor inhibitor (TNF) with respect ...
Chen Zhiting Z Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. - - 2014
The Leigh syndrome (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure, is one of the most severe mitochondrial diseases. In the majority of cases, the disease is fatal and patients die before age 5. Mutation m.10197 G>A was found to relate to the ...
Lehti Venla V Research Centre for Child Psychiatry, University of Turku, Lemminkäisenkatu 3/Teutori, 20014, Turku, Finland, - - 2014
Parental immigration has been suggested as a possible risk factor for autism spectrum disorders (ASD), but findings have been inconsistent. Very few studies have focused specifically on Asperger's syndrome. The aim of this study was to examine the association between maternal and paternal immigration and the diagnosis of Asperger's syndrome ...
Guenat David - - 2014
Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin¿s Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region ...
Campbell Candace L CL University of Arkansas for Medical Sciences, Department of Pediatrics, Little Rock, Arkansas; University of Arkansas for Medical Sciences, Division of Cardiology, Little Rock, - - 2014
Kleefstra syndrome arises from haploinsufficiency of EHMT1 caused by either microdeletions at 9q34.3 or intragenic mutations. Patients with Kleefstra syndrome have multisystem involvement including intellectual disability, hypotonia, and characteristic facial features. We report on the severe neonatal presentation of the first case of Kleefstra syndrome associated with hypoplastic left heart ...
Piana Roberta La RL Laboratory of Neurogenetics of Movement, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada - - 2014
Allan-Herndon-Dudley syndrome is an X-linked disease caused by mutations in the solute carrier family 16 member 2 (SLC16A2) gene. As SLC16A2 encodes the monocarboxylate transporter 8 (MCT8), a thyroid hormone transporter, patients with Allan-Herndon-Dudley syndrome present a specific altered thyroid hormone profile. Allan-Herndon-Dudley syndrome has been associated with myelination delay ...
Katzir Miki M Department of Neurosurgery, Rambam Health Care Campus, The Technion, Israel Institution of Technology , Haifa , - - 2014
Uncal herniation is accompanied by a decreased level of consciousness. We describe a patient who remained fully alert despite the uncal herniation. The computed tomography (CT) scans allowed us to visualize the uncus and its spatial relation to the cerebral peduncle. We describe the sliding uncus syndrome.
Atwood Todd T 1  US Geological Survey, Alaska Science Center, 4210 University Dr., Anchorage, Alaska 99508, - - 2014
Abstract Alopecia (hair loss) has been observed in several marine mammal species and has potential energetic consequences for sustaining a normal core body temperature, especially for Arctic marine mammals routinely exposed to harsh environmental conditions. Polar bears (Ursus maritimus) rely on a thick layer of adipose tissue and a dense ...
Emanuel Patrick O PO University of Auckland, New Zealand; Department of Dermatology, Mount Sinai Medical Centre, New York; Diagnostic Medlab, Ellerslie, Auckland, New - - 2014
We describe three cases of periocular edema with histopathologic features of intralymphatic histiocytosis without extravascular granulomas. All were elderly males with no other significant medical problems. Previous reports of periocular Melkersson-Rosenthal syndrome are identical clinically, and some reports show illustrations of intralymphatic histiocytosis histopathologically, in addition to other features typical ...
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