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Goktas Sertan S Department of Ophthalmology, Konya Training and Research Hospital, Konya - - - 2014
PurposeTo measure choroidal thickness in patients with pseudoexfoliation (PEX) syndrome and to compare the values with control eyes using enhanced depth imaging optical coherence tomography (EDI-OCT).MethodsThirty-four patients with PEX syndrome and 30 age- and sex-matched healthy subjects were included in this study. Only one eye of each of the patients ...
Koch Clinic for Small Animal Surgery, Vetsuisse Faculty, University of - - 2014
For some time Norwich terriers have been known to suffer from respiratory problems. In order to assign this weakness to a pathophysiology, 23 terriers were examined clinically, with laryngoscope and with rhinomanometry. In addition their skulls were dimensioned on radiographs. Widened nostrils, overlong soft palates and the everted laryngeal pouches ...
Kumari Bhawana B From the Department of Neurology, Post Graduate Institute of Medical Education and Research Centre, Chandigarh, - - 2014
Nasopharyngeal carcinoma commonly presents with trismus, pain, otitis media, nasal regurgitation (due to paresis of the soft palate), hearing loss, and cranial nerve palsies.(1) Incidence of cranial nerve involvement varies from 12% to 35%.(2.)
Abdollahifakhim Shahin S Department of Pediatrics Otolaryngology, Pediatrics Hospital, Tabriz University of Medical Sciences, Tabriz, - - 2014
Lipoma is the most common soft tissue mass in adults but it is uncommon in children. Nasal septal lipoma is an even more rare entity. In this report, a 12-year-old girl was presented with congenital nasal septal lipoma. She had permanent partial nasal obstruction on her right side and disfigurement ...
Dang Yun Y Department of Dermatology, Second Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, - - 2014
Hyper IgE syndrome (HIES) is a rare disorder characterized by eczema, recurrent infections of the skin and lungs, typically with Staphylococcus aureus, Candida albicans and certain viruses, and elevated levels of serum IgE. Other clinical manifestations include characteristic facies (prominent forehead, broad nasal bridge and facial asymmetry), chronic eczematous dermatitis, ...
Pandit Sudipta S Department of Chest Medicine, Medical College, Kolkata, West Bengal, - - 2014
A young boy presented with cough and intermittent breathlessness for 3 months. He used to suffer from frequent cough and cold since childhood. Clinical examination revealed bilateral coarse basal crepitations and rhonchi. His apex beat was on right 5(th) intercostal space in mid-clavicular line. Investigation revealed situs inversus, bi-lateral bronchiectasis, ...
Di Donato N N Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany. Electronic address: - - 2013
We report on two female patients carrying small overlapping Xq26.2 deletions of 100 kb and 270 kb involving the PHF6 gene. Mutations in PHF6 have been reported in individuals with Borjeson-Forssman-Lehmann syndrome, a condition present almost exclusively in males. Two very recent papers revealed de novo PHF6 defects in seven ...
Felgentreff Kerstin K Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Center of Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: - - 2013
Loeys-Dietz syndrome (LDS) is a connective tissue disorder caused by monoallelic mutations in TGFBR1 and TGFBR2, which encode for subunits of the transforming growth factor beta (TGFβ) receptor. Affected patients are identified by vascular aneurysms with tortuosity and distinct morphological presentations similar to Marfan syndrome; however, an additional predisposition towards ...
Debost-Legrand Anne A CHU Clermont-Ferrand, Génétique Médicale, Clermont-Ferrand, - - 2013
Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. WHS results from a 4p16.3 deletion. Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS. Here we report our experience on 10 cases ...
Lee Daphne E - - 2013
• Premise of the study: Fuchsia (Onagraceae) anthers, pollen, and an ornithophilous Fuchsia-like flower from an earliest Miocene lacustrine diatomite deposit at Foulden Maar, southern New Zealand confirm a long record for Fuchsia in New Zealand and probably an equally long history for its distinctive honeyeater pollination syndrome. The anthers ...
Mohammadzadeh Iraj I Noncommunicable Pediatric Diseases Research Center, Babol University of Medical Sciences, - - 2013
Stevens-Johnson syndrome is an uncommon inflammatory skin disorder in which immune mechanisms, cytotoxic reactions, and delayed hypersensitivity seem to be involved. Herein, an unusual case with strange complaint of"bus allergy" is presented, suffering from severe generalized itching and skin lesions, followed by ulcers in his mouth and genitalia. The diagnosis ...
Samuelov Liat L 1] Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. - - 2013
The relative contribution of immunological dysregulation and impaired epithelial barrier function to allergic diseases is still a matter of debate. Here we describe a new syndrome featuring severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome) caused by homozygous mutations in DSG1. DSG1 encodes desmoglein 1, a major constituent of ...
Sousa Sérgio B - - 2013
Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; ...
Yalcin Arzu Didem - - 2013
Abstract Contex: The historic triad of nasal polyposis, asthma and intolerance to aspirin and related chemicals, recently designated as Samter's syndrome, is an inflammatory condition of unknown pathogenesis. This study surveyed the levels of chosen serum eosinophil cationic peptide (ECP), soluble CD200 (SCD200), interleukin (IL)-1β, high sensitive C-reactive protein (hs-CRP) ...
Guo Hong - - 2013
Brachydactyly is a relatively common congenital abnormality and can be associated with many other malformations. However, brachydactyly in association with absence of nasal bone is rare. Two Chinese siblings with a combination of nasal bone absence and brachydactyly are presented, apparently without other abnormalities. This combination of features do not ...
Evans Kelly N - - 2013
Frontonasal Dysplasia (FND) and Oculo-auriculo-vertebral spectrum (OAVS) are two well-recognized clinical entities. With features of both FND and OAVS, the term oculoauriculofrontonasal syndrome (OAFNS) was coined in 1981. The OAFNS phenotype combines elements of abnormal morphogenesis of the frontonasal and maxillary process (derived from forebrain neural crest) with abnormal development ...
Settipane Russell A - - 2013
Rhinitis is characterized by one or more of the following nasal symptoms: congestion, rhinorrhea (anterior and posterior), sneezing, and itching. It is classified as allergic or nonallergic, the latter being a diverse syndrome that is characterized by symptoms of rhinitis that are not the result of IgE-mediated events. Excluding infectious ...
Farruggia Piero - - 2013
Hypereosinophilic syndromes in children are rare disorders traditionally characterized by an eosinophil count exceeding 1,500/mm on at least 2 occasions or evidence of tissue eosinophilia associated with symptoms and marked blood eosinophilia, lacking any secondary cause (such as infections, allergic disease, chemical-induced eosinophilia, hypoadrenalism, cancer). Until now there have only ...
Ocak Z - - 2013
Pai syndrome is a rarely encountered disease characterized by findings of median cleft lip, facial skin polyps, nasal mucosal polyps and midline central nervous system lipoma. We report a case with prenatal detection of a pericallosal lipoma and a skin tag on the forehead. After delivery, the diagnosis was confirmed ...
Ricci G - - 2013
Approximately 30-50 percent of individuals with natural rubber latex (NRL) allergy show an associated hypersensitivity to particular plant-derived foods, which has been defined “latex-fruit syndrome” (LFS). In our population of 22 patients with IgE-mediated NRL allergy we found a relevant prevalence (36 percent) of LFS, which resulted significantly higher in ...
van Straten Cornelia - - 2013
An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated. Extensive demographic information, in particular of the clinical appearances, ...
Wirsching Kornelia Ec - - 2013
Comèl-Netherton syndrome is an inherited ichthyosis that is associated with highly impaired epidermal cornification and barrier function. Literature sparsely reports of the occurrence of early onset skin cancer in people with Netherton syndrome. To the best of our knowledge the suitability of the severely altered skin in patients with Netherton ...
Sánchez-Borges Mario - - 2013
Oral mite anaphylaxis is a new syndrome characterized by severe allergic symptoms occurring immediately after eating foods made with mite-contaminated wheat flour. This syndrome, which is more prevalent in tropical environments, is triggered more often by pancakes, and for that reason, it has been designated "the pancake syndrome." Because cooked ...
Chen Brian S - - 2012
Aspirin sensitivity syndrome is an underdiagnosed entity in pediatric otolaryngology. The diagnosis must be considered in a pediatric non-cystic fibrosis patient with florid nasal polyposis. In this small case series, we will describe 2 patient's presentation, work up, allergic and surgical therapies and their postoperative course. In doing so, we ...
Page Robert E RE - - 2012
The pollen hoarding syndrome consists of a large suite of correlated traits in honey bees that may have played an important role in colony organization and consequently the social evolution of honey bees. The syndrome was first discovered in two strains that have been artificially selected for high and low ...
Wolfe Christopher M - - 2012
Methyl aminolevulinate photodynamic therapy (MAL-PDT) is utilized in several countries for the treatment of basal cell carcinoma, but allergic sensitization has been reported by the manufacturer. To the best of our knowledge, we report the first case of urticaria following MAL-PDT in a patient with nevoid basal cell carcinoma syndrome. ...
Gómez L - - 2012
A 53 year-old man presented with a progressive enophthalmos without any sinus or nasal symptoms. There was no history of a trauma. The ophthalmology examination showed enophtalmos and hypoglobus. The computerized tomography (CT) showed a collapsed maxillary and frontal sinus and a lateral deviation of the nasal septum that led ...
Khalil Georges - - 2012
Halzoun syndrome typically manifests in the form of an allergic pharyngitis following the consumption of raw or undercooked ovine liver. First described in Lebanon in 1905, it was initially attributed to Fasciola hepatica, while later publications have attributed it to other pathogens. There has been no definitive documentation of the ...
Dutta Deep - - 2012
Cushing's syndrome (CS) is common after oral steroid use and has also been reported following topical or inhaled use, but it is extremely uncommon after intranasal administration. In this paper, we present the case of a child who developed CS after intranasal application of combined moxifloxacin-dexamethasone eye drops for epistaxis ...
Keel Pamela K PK Department of Psychology, Florida State University, Tallahassee, FL 32306, USA. - - 2013
Proposed DSM-5 severity dimensions reveal ambiguity regarding the extent to which certain features define boundaries between similar diagnoses or represent underlying dimensions within a broader category of bulimic syndromes. The current study utilized a novel mixed modeling approach that can simultaneously model latent dimensions and latent categories to address this ...
Ciprandi G - - 2012
Pollen allergy may be frequently associated with oral allergy to fruits and/or vegetables (the so called oral allergic syndrome). Some studies reported a possible positive effect exerted by allergen-specific immunotherapy on OAS course, while others did not. A case of OAS case onset after starting sublingual immunotherapy is reported.
Rael Efren L - - 2012
: Hyper-IgE syndrome is a primary immunodeficiency marked by abnormalities in the coordination of cell-cell signaling with the potential to affect TH17 cell, B cell, and neutrophil responses. Clinical manifestations include recurrent skin and lung infections, serum IgE elevation, connective tissue repair and development alterations, and the propensity for vascular ...
Laresgoiti-Servitje Estibalitz - - 2012
Preeclampsia is a syndrome that is characterized by inadequate placentation, which is due to deficient trophoblastic invasion of the uterine spiral arteries. This deficiency can lead to placental hypoxia, secretion of pro-inflammatory cytokines, and release of angiogenic and anti-angiogenic factors. Hypoxic conditions in the placenta can promote oxidative stress and ...
Lam Suet Kam - - 2012
The authors present an unusual case of bilateral medial foot compartment syndrome in a healthy woman after a low-intensity aerobics exercise class. The majority of compartment syndrome cases have occurred after trauma, such as combat crush injuries and motor vehicle accidents. We wish to call attention to a rare situation ...
Calò Lorenzo A - - 2012
OBJECTIVE:: An increased number of endothelial progenitor cells (EPCs), which correlated with heme oxygenase-1 gene expression and nitric oxide-mediated vasodilation [flow-mediated dilation (FMD)], has been recently reported by us in Bartter/Gitelman syndromes, rare diseases that represent a human model of endogenous angiotensin (Ang) II type-1 receptor antagonism and depicting an ...
Gokturk B - - 2012
Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from ...
Ibadin Michael Okoeguale - - 2012
A case of Prune Belly Syndrome in an infant, the second in a middle class family with both parents in their late thirties, is presented because of its rarity. Constraints in the manage-ment are discussed and relevant literature reviewed. This is intended to awaken interest and sharpen indices of suspicion ...
Frye Richard E - - 2012
Both copy number changes in the 22q13 region and mitochondrial disease have been associated with autism spectrum disorder. In this report, for the first time, a girl with autism spectrum disorder is described who exhibits both mitochondrial disease and a 22q13.1-33 duplication. This child demonstrated hypotonia, developmental delays, growth deficiency, ...
Spraggs C F CF Genetics Department, GlaxoSmithKline Research & Development, Stevenage, UK. - - 2012
Lapatinib is a clinically important component of the treatment for HER2-positive metastatic breast cancer and has an acceptable safety profile. Lapatinib-associated Hy's Law cases have been characterized using human leukocyte antigen (HLA) DQA1*02:01/DRB1*07:01 and Gilbert's syndrome UGT1A1*28/*28 genotypes. The HLA-positive cases had higher alanine aminotransferase (ALT) elevation, whereas the HLA-negative ...
Demirel Fatma - - 2012
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare syndrome characterized by complete or partial agenesis of the uterus and vagina, due to a congenital defect of the Mullerian duct. Affected individuals have a 46,XX karyotype and a normal female phenotype. MRKH syndrome may be isolated (type I MRKH syndrome) or associated with ...
Senthilkumaran Subramanian - - 2012
ABSTRACT: Unintentional organophosphate compound poisoning, although known, contamination of organophosphate compound through laundered uniform and subsequent transcutaneous absorption, in 30 children is reported herewith for its rarity. Emergency physicians have to recognize such entities clinically, confirm by laboratory means wherever possible, and intervene with appropriate measures.
Hanioka Yusuke - - 2012
A case of Churg-Strauss syndrome complicated by chronic symmetrical dacryoadenitis suggestive of Mikulicz's disease is herein presented. A 72-year-old Japanese man, who had been previously diagnosed with asthma, presented with weakness of the left leg and purpura on the lower extremities. A neurological examination showed multiple mononeuropathies and a laboratory ...
Senchak Andrew - - 2012
Esthesioneuroblastoma (ENB) is a neuroendocrine tumor that typically manifests as advanced stage malignancy in the superior nasal cavity. The hallmark symptoms include nasal obstruction and epistaxis, which result from local tissue invasion. Atypical clinical features can also arise and must be considered when diagnosing and treating ENB. These can include ...
Başgül Yiğiter A - - 2012
Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by polydactyly, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies. We report a patient with a fetus with SRPS type II that presented at the 19th week ...
Gajula Prathima - - 2012
We report a rare case of Hunter syndrome-mucopolysaccharidosis type II (MPS II) with atypical presentation of mild mental retardation, acrocephalic head without corneal clouding, and multiple skin eruptions along with oral, dental, and radiographic findings. It is a rare syndrome with a very low prevalence of 1:100,000 births and as ...
Ohtake Akira - - 2011
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by a distinctive facial appearance, ectodermal abnormalities, and heart defects. Clinically, it overlaps with both Noonan syndrome and Costello syndrome. Mutations in KRAS, BRAF, and MAP2K1/2 (MEK1/2) have been identified in patients with CFC syndrome. BRAF mutations are involved ...
Falk Henry - - 2011
This paper summarizes environmental investigations (n = 458) conducted during the first 60 years of the epidemic-assistance investigation program at the Centers for Disease Control and Prevention. These investigations were grouped into 10 categories: toxic chemicals (n = 102), indoor air quality and outdoor air toxics (n = 21), new ...
McDermott David H - - 2011
WHIM is an acronym for a rare immunodeficiency syndrome (OMIM #193670) caused by autosomal dominant mutations truncating the C-terminus of the chemokine receptor CXC chemokine receptor 4 (CXCR4). WHIM mutations may potentiate CXCR4 signalling, suggesting that the United States Food and Drug Administration (FDA)-approved CXCR4 antagonist AnorMED3100 (AMD3100) (also known ...
Pincus Seth H - - 2011
Ricin toxin (RT) is derived from castor beans, produced by the plant Ricinus communis. RT and its toxic A chain (RTA) have been used therapeutically to arm ligands that target disease-causing cells. In most cases these ligands are cell-binding monoclonal antibodies (MAbs). These ligand-toxin conjugates or immunotoxins (ITs) have shown ...
Tormoehlen Laura M - - 2011
Leukoencephalopathy is a syndrome of neurologic deficits, including alteration of mental status, caused by pathologic changes in the cerebral white matter. The term, toxic leukoencephalopathy, encompasses a wide variety of exposures and clinical presentations. The diagnosis in these syndromes is made by careful attention to the history, clinical features, and ...
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