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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 ...
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 ...
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.
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 ...
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 ...
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 ...
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 ...
Vilain Re - - 2011
Vilain RE, Dudding T, Braye SG, Groombridge C, Meldrum C, Spigelman AD, Ackland S, Ashman L, Scott RJ. Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome? Familial gastrointestinal stromal tumours (GISTs) are rare but otherwise well-characterized tumour syndromes, most commonly occurring on a background of germline-activating mutations ...
Sheikhzadeh S - - 2011
Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in ...
Tanima Das - - 2011
Extrapyramidal syndrome is an uncommon sequelae of acute organophosphorous (OP) poisoning. It is a manifestation of the intermediate syndrome described in OP poisoning. It may or may not be associated with neuroimaging changes in the striatum. We present a case of acute OP poisoning with interesting positive CT scan findings.
Carreras E - - 2011
In this review, we analyse the role of the endothelium in the development of several complications that appear soon after haematopoietic SCT (HSCT). Once it had been demonstrated that sinusoidal damage is the initiating event of the sinusoidal obstruction syndrome, it was considered that other short-term complications with overlapping clinical ...
Li Adrienne L K - - 2011
The surgical management of a giant condyloma of Buschke and Löwenstein poses particular reconstructive challenges, given the wound size, depth, and infection risk. We present a case where a pedicled anterolateral thigh flap is used to reconstruct a complex wound following resection of a giant condyloma of Buschke and Löwenstein ...
Sun Lizhong - - 2011
OBJECTIVE: The optimal surgical repair for patients with Marfan syndrome with type A dissection involving the aortic arch is controversial. We retrospectively reviewed our experience of total arch replacement combined with stented elephant trunk implantation for patients with Marfan syndrome with type A dissection. METHODS: Between April 2003 and September ...
Tosun Bilgehan - - 2011
Spontaneous osteonecrosis of the navicular in the adult is known as Mueller-Weiss syndrome, which is a rare disease characterized by a collapse of the lateral portion of the tarsal navicular combined with a medial protrusion of the talar head and peri-navicular osteoarthritis. In this article, we describe a case of ...
Piano Salvatore - - 2011
The recurrence of type 1 hepatorenal syndrome has been described in up to 20% of responders to terlipressin and albumin after the discontinuation of the treatment. Subsequent recurrence of type 1 hepatorenal syndrome may require long-term treatment with terlipressin and albumin. We describe our experience of long-term administration of terlipressin ...
Martus Jeffrey E - - 2011
Study Design: Retrospective study.Objective: To compare arthrodesis techniques for pediatric cervical kyphosis.Summary of Background Data: Cervical kyphosis is rare in the pediatric population. The most common etiologies are acquired instability or an underlying syndrome. The largest pediatric case series in the literature describes the treatment of nine patients.Methods: A retrospective ...
Emaminia Abbas A Department of Surgery, University of Virginia, Charlottesville, Va 22908-0679, - - 2011
In 2005, the time-based waiting list for lung transplantation was replaced by an illness/benefit lung allocation score (LAS). Although short-term outcomes after transplantation have been reported to be similar before and after the new system, little is known about long-term results. The objective of this study was to evaluate the ...
Lucendo A J - - 2011
Eosinophilic esophagitis (EoE) has been associated with an increased risk of esophageal mucosal tears induced by vomiting to dislodge impacted food or following endoscopic procedures. However, Boerhaave's syndrome or transmural perforation of the organ resulting from vomiting induced to dislodge impacted food has rarely been reported. In this article, we ...
Chien Jason W JW Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA 98109-1024, USA. - - 2011
Bronchiolitis obliterans syndrome is a potentially fatal complication of allogeneic hematopoietic cell transplantation that is defined as the development of new fixed airflow obstruction within the first 2 years after transplantation. The prevalence of this syndrome is estimated to be 5.5% among all allogeneic hematopoietic cell transplantation recipients, and 14% ...
Brieger Angela - - 2011
MutLα plays an essential role in DNA mismatch repair (MMR) and is additionally involved in other cellular mechanisms such as the regulation of cell cycle checkpoints and apoptosis. Therefore, not only germline MMR gene defects but also the subcellular localization of MutLα might be of importance for the development of ...
Rump P - - 2011
Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a new family with three ...
Siegel D H DH Department of Dermatology and Pediatrics, Oregon Health and Science University, Portland, USA. - - 2011
The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair. Systematically to characterize the ...
Watanabe Naruhito - - 2011
We describe a case of severe aortic stenosis in a 16-year-old male with Hurler's syndrome who had prior bone marrow transplantation. The excised aortic valve leaflets showed characteristic pathologic findings of Hurler's syndrome. This is the first case report of aortic valve replacement in a patient with Hurler's syndrome treated ...
Panda Dipanjan - - 2011
A 6-year-old boy presented with pancytopenia. Bone marrow morphology showed dyspoiesis and cytoplasmic vacuolation in myeloid precursor cells. Cytoplasmic vacuoles are described in erythroid cells in myelodysplastic syndrome (MDS) but are extremely rare in myeloid precursor cells. We ruled out viral and autoimmune etiology, hypocupremia, Pearson syndrome, and chromosomal abnormalities. ...
Yu Guo-Pan - - 2011
Acute leukemia with coexisting Gilbert's syndrome treated by allogeneic hematopoietic stem cell transplantation (allo-HSCT) is rarely reported. Here we described a case whose transaminase levels were almost normal, although transient hyperbilirubinemia repeatedly happened during chemotherapy.
Shirai Yusaku - - 2011
Budd-Chiari syndrome is a very rare pathological entity that ultimately leads to liver failure. Several therapeutic modalities, including percutaneous transluminal angioplasty, have been attempted to save the life of patients with Budd-Chiari syndrome. Few reports have described a salvage living donor liver transplantation performed after percutaneous transluminal angioplasty in a ...
Eckrich Michael J - - 2011
X-linked lymphoproliferative syndrome is a well-described syndrome often characterized by progression to fatal infectious mononucleosis. Many mutations of the SH2D1A gene have been identified in patients with X-linked lymphoproliferative syndrome. These mutations are often associated with either decreased or impaired function of the protein product, signaling lymphocytic activation molecule-associated protein. ...
Wang Zhaoxia - - 2010
The 13513G>A mutation in the ND5 gene of mitochondrial DNA (mtDNA) is usually associated with mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS), or Leigh syndrome (LS). In this study, we describe three young Chinese patients with MELAS/LS overlap syndrome who carried the m.13513G>A mutation. Clinical and MRI features ...
Lansman Steven L - - 2010
The term acute aortic syndrome refers to a heterogeneous group of conditions that cause a common set of signs and symptoms, the foremost of which is aortic pain. Various pathologic entities may give rise to this syndrome, but the topic has come to focus on penetrating aortic ulcer and intramural ...
Ohgaki Hiroko - - 2010
There are several well-characterized hereditary syndromes that predispose to the development of tumors of the nervous system, and that result from germline mutations in high-penetrance genes. In this review, we provide a brief overview of these syndromes. The elucidation of the molecular basis of hereditary syndromes has greatly contributed to ...
Darius T - - 2010
Exceptionally, gastrointestinal involvement of Churg-Strauss syndrome (CSS) may require extensive bowel resection resulting in a short bowel syndrome. Living related intestinal transplantation (IT) has emerged as an alternative to deceased-donor IT in the management of patients with irreversible short bowel syndrome. Herein, we have presented a 35-year-old patient with isolated ...
Aliferis K - - 2010
Peters plus syndrome is an autosomal recessive rare congenital disorder defined by corneal Peters anomaly with short disproportionate stature, development delay and dysmorphic facial features. In addition, cardiac, genito-urinary and/or central nervous system malformations can be present. Mutations in the beta-1,3-galactosyltransferase-like glycosyltransferase gene (B3GALTL) have been reported in patients with ...
Mets Rebecca B - - 2010
Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. Observational case series with confirmatory genetic analysis. A pair of siblings, followed over 17 years, ...
Jaakkola E - - 2010
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. We report a large consanguineous pedigree from northern Finland with six individuals belonging into four different sibships and affected with typical COFS syndrome phenotype. Two deceased patients ...
Zhang Y - - 2010
The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders involving craniofacial dysostosis and limb anomalies. Depending on the type of limb defects, two major groups have been defined: Nager syndrome with predominant preaxial anomalies and Miller syndrome with postaxial malformations. Genomic copy number variation, a common type of genomic ...
Au Brandon K C BK John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, - - 2011
Bronchiolitis obliterans syndrome (BOS) is a pulmonary complication of allogeneic hematopoietic cell transplantation (aHCT). Recent National Institutes of Health consensus diagnostic criteria for BOS have not been assessed in a clinical setting. Modified National Institutes of Health diagnostic consensus criteria for BOS were applied to evaluate its prevalence, risk factors, ...
Hunkapiller Julie - - 2011
Oral-Facial-Digital 1 (OFD1) Syndrome is an X-linked developmental disorder caused by mutations in the gene Ofd1. OFD1 syndrome involves malformation of the face, oral cavity, and digits and may be characterized by cystic kidneys and mental retardation. Deletion or missense mutations in Ofd1 also result in loss of primary cilia, ...
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