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Results 401 - 450 of 1077
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Avila Magali - - 2013
We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display common clinical features including metopic ridging/trigonocephaly, developmental delay, epicanthal folds, and short hands. The ...
Danso-Abeam Dina - - 2013
BACKGROUND: Olmsted syndrome is a rare congenital skin disorder presenting with periorifical hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated with infections of the keratotic area. A recent study identified de novo mutations causing constitutive activation of TRPV3 as a cause of the keratotic manifestations of Olmsted syndrome. ...
Tsuji Hideaki - - 2013
A 35-year-old Japanese female patient with systemic lupus erythematosus (SLE) presented with fever, erythematous papules and nodules, and polyarthralgia. Skin biopsy of a nodule was compatible with Sweet's syndrome. The papules/nodules were well treated with an oral glucocorticoid. Thirty cases of Sweet's syndrome associated with lupus erythematosus (LE) have been ...
Senniappan Senthil - - 2013
Abstract Mutations in SLC29A3 lead to pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy plus syndrome. We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes, and cardiomyopathy. A 12-year-old girl with PHID syndrome presented with shortness of ...
Rosti Rasim O - - 2013
Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report a 4-year and 6-month-old female patient with this phenotype and review the clinical presentation of ...
Yu Ji-Youn - - 2013
Boerhaave's syndrome is spontaneous rupture of the esophagus, a rare condition with high mortality that occurs most often after forceful vomiting. Polyethylene glycol (PEG) solution is the most common preparation used for colonoscopy. Since large volumes have to be ingested, PEG may induce severe vomiting or retching. However, Boerhaave's syndrome ...
Mouallem Meir - - 2013
Tumor lysis syndrome (TLS) is an oncological emergency that results from massive cytolysis of malignant cells with a sudden release of their contents into the systemic circulation. TLS was rarely described in patients with malignant melanoma. In this article, we describe two patients with malignant melanoma who developed this syndrome. ...
R Snehalatha - - 2013
Rosai Dorfman syndrome known as Sinus Histiocytosis with Massive Lymphadenopathy (SHML) is an uncommon benign systemic histio-proliferative disease which affects lymph nodes , most often those of the neck (cervical lymphadenopathy). The characteristic histological feature is lymphophagocytosis which is specific for this syndrome. Evidence based survey reveals that many cases ...
Chen Zhiyuan Z Division of Animal Sciences; University of Missouri; Columbia, MO - - 2013
Beckwith-Wiedemann syndrome (BWS) is a human loss-of-imprinting syndrome primarily characterized by macrosomia, macroglossia, and abdominal wall defects. BWS has been associated with misregulation of two clusters of imprinted genes. Children conceived with the use of assisted reproductive technologies (ART) appear to have an increased incidence of BWS. As in humans, ...
Maffè G C GC Medicina Interna I, Università degli Studi di Pavia, Fondazione I.R.C.C.S, Policlinico San Matteo-Pavia, Pavia, - - 2013
Turner syndrome, a chromosomal disorder caused by partial or complete absence of one of the two X chromosomes, is characterized by an increased incidence (compared with that in the normal population) of either autoimmune disorders, including chronic inflammatory bowel diseases, or angiodysplasia of the small intestine. Because ultrasonography and color ...
Maxfield Steven D - - 2013
Abstract Purpose: To report optic disc dysplasia in a case of Poland syndrome. Design: Non-interventional case report. Methods: A 2-year-old boy with Poland syndrome was referred for ophthalmic evaluation after abnormal optic discs were found on exam. Results: Physical exam at birth revealed right-sided aplasia of the pectoralis major muscle, ...
Pomianowski Pawel - - 2013
Genetic studies over the past several decades have helped to better elucidate the genomics and inheritance of thoracic aortic diseases. Seminal work from various researchers have identified several genetic factors and mutations that predispose to aortic aneurysms, which will aid in better screening and early intervention, resulting in better clinical ...
Bengtsson Mariette - - 2013
The Visual Analogue Scale for Irritable Bowel Syndrome (VAS-IBS), a self-rating questionnaire, was designed to measure symptoms and the effect of treatment in patients suffering from irritable bowel syndrome. The aim of this descriptive correlational study was to conduct further psychometric validation after the VAS-IBS had been used in clinical ...
Ohman Lena - - 2013
Gut microbiota alterations are increasingly being recognized as an important factor in the pathogenesis and pathophysiology of Irritable bowel syndrome (IBS). The onset of IBS symptoms after a bout of gastroenteritis comprises one of the strongest indications for the importance of gut microbiota for IBS. Moreover, recent studies have identified ...
Wangler Michael F MF Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, - - 2013
Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer predisposition syndrome characterized by melanotic macules and hamartomatous polyps. Small-bowel surveillance in the pediatric PJS population is not designed to identify small-bowel malignancy, which is thought to arise in adulthood. A 13-year-old boy presented with lead-point intussusception, requiring emergent surgical resection. A ...
Acer Tuğba - - 2013
There are case reports of duplication of the colon, rectum, anus, urinary system, lower genital tract, and external genitalia, spinal anomalies, and abdominal wall defects. However, it is rare to encounter a single newborn with all of the mentioned abnormalities, which have been defined as the caudal duplication syndrome (CDS). ...
Haenen F - - 2013
A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal cysts. At surgery, the cysts were excised and the postoperative course was uneventful. In conclusion, this ...
Chacon-Camacho Oscar F - - 2013
Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of ...
Dahlqvist G G Internal Medicine Department, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, - - 2013
A 24-year-old woman with a short bowel syndrome following post-ischemic small bowel resection, developed several episodes of lethargy, echolalia and ataxia. D-lactic acidosis was identified as the cause of neurological disturbances. This infrequent disorder can be precipitated by intake of a large amount of sugars, in patients with short bowel ...
Mavrodin C I - - 2013
Sindromul de compartiment abdominal - complicaåie în chirurgia defectelor parieto-abdominale voluminoase Incidenåa hipertensiunii intraabdominale (HTIA) şi a sindromului de compartiment abdominal (SCA) este subapreciatã în chirurgia defectelor parieto-abdominale de mari dimensiuni, cu diametrul transversal maxim de peste 10 cm, acesta fiind considerat principalul factor de risc pentru dezvoltarea hipertensiunii intraabdominale, ...
Adlekha Shashikant - - 2013
Bernard Soulier Syndrome is a very rare congenital bleeding disorder characterized by deficiency in glycoprotein Ib (Gp Ib) which is vital for clot formation. We present a case of 21-year-old girl with onset of menorrhagia since 4 months. She was investigated and diagnosed to be a case of AML-M4 with ...
Hu Ke - - 2013
Janus kinase 1 (JAK1), JAK2, and signal transducer and activator of transcription 3 (STAT3) play an important role in Th1 and Th17 differentiation and gene polymorphisms of these factors have been demonstrated to be associated with certain autoimmune diseases. The present study was performed to assess the association between JAK1, ...
Devi Basanti - - 2013
Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like ...
Carubbi Francesco - - 2013
Bariatric surgery represents a common approach for the control of severe morbid obesity, reducing caloric intake by modifying the anatomy of the gastrointestinal tract. Following jejunoileal bypass, a large spectrum of complications has been described, with rheumatic manifestation present in up to 20% of cases. Although bowel bypass syndrome, also ...
Speksnijder Leonie - - 2013
Acrocallosal syndrome is characterized by postaxial polydactyly, macrocephaly, agenesis of the corpus callosum, and severe developmental delay. In a few patients with this disorder, a mutation in the KIF7 gene has been reported, which was associated with impaired GLI3 processing and dysregulaton of GLI3 transcription factors. A single patient with ...
Neri Iria - - 2013
Baboon syndrome is a combination of diffuse symmetrical erythema on the major flexural areas and V-shaped erythema on both upper anteromedial thighs. Infectious agents have been described as possible triggers. We describe for the first time baboon syndrome in a child induced by a coinfection with Epstein-Barr virus and cytomegalovirus.
McClelland Collin - - 2013
: We report a case of congenital mydriasis in a neonate with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Pilocarpine testing and gastrointestinal pathology in our patient suggest that the mydriasis is due to an underlying smooth muscle myopathy of the iris sphincter muscle. These findings may have important implications regarding ...
Ni Qing-Feng - - 2013
Patients with gallbladder carcinoma can present with a variety of paraneoplastic syndromes, including Cushing's syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the sign of Leser-Trélat. Surgical resection of the primary tumor results in resolution of these paraneoplastic syndromes. We present a 67-year old female with facial and cervical erythema ...
Malik Rohit - - 2013
Nager syndrome, also called preaxial acrofacial dysostosis, comprises two groups of defects involving the limbs and craniofacial region, respectively. This syndrome is rare and only 70 cases have been reported in the literature. The exact cause of this syndrome is unknown, but there is indication that it is genetically based. ...
Schultze-Florey R E - - 2013
Recently, germline mutations of DICER1 have been identified in patients with rare neoplasms suggesting the existence of a newly discovered cancer prone syndrome. Initially, DICER1 mutations were identified in patients with familial pleuropulmonary blastoma. Subsequently, additional manifestations of the syndrome have been identified including cystic nephroma, medulloepithelioma, Sertoli-Leydig cell tumor ...
Algaze Claudia - - 2013
We describe a newborn with a phenotype consistent with Adams-Oliver syndrome and truncus arteriosus. Although cardiovascular malformations associated with this syndrome have been previously published in the literature, this is the first description of truncus arteriosus in a patient with Adams-Oliver syndrome. We review other reports of Adams-Oliver syndrome previously ...
Lee Nathan - - 2013
Muir-Torre syndrome represents a rare autosomal dominant familial cancer predisposition disorder defined by the occurrence of cutaneous sebaceous tumors and an internal malignancy, most commonly gastrointestinal carcinoma. Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome, are associated with microsatellite instability (MSI) and germline mutations in ...
Petazzi Paolo - - 2013
Mecp2 is a transcriptional repressor protein that is mutated in Rett syndrome, a neurodevelopmental disorder that is the second most common cause of mental retardation in women. It has been shown that the loss of the Mecp2 protein in Rett syndrome cells alters the transcriptional silencing of coding genes and ...
Aydoseli A - - 2013
Currarino's syndrome (CS) is characterized by a triad of a sacral bony defect, anorectal malformations and presacral mass, most commonly an anterior sacral meningocele. Since it was first described as a syndrome by Currarino et al. in 1981, approximately 300 cases have been reported in the literature. Diagnosis of CS ...
Ahmed Fozia Z - - 2013
In recent years the phenomenon of reverse twiddler's syndrome has been described, characterized by pulse generator manipulation resulting in lead advancement rather than retraction. We describe what we believe to be the first reported case of both classic and reverse twiddler's syndrome occurring simultaneously in a patient with a biventricular ...
Mou Xin - - 2013
OBJECTIVE: To explore the relationship between Chinese medicine (CM) constitutive susceptibility and syndrome diversity in diabetic nephropathy (DN). METHODS: Epidemiologic investigation on constitution adopting the "Constitution in Chinese Medicine Questionnaire" (CCMQ), and survey on syndrome type by CM syndrome scale (preliminary) were carried out in 180 DN patients. Cluster analysis ...
Lindsay Holly H Department of Pediatrics, Children's Center for Cancer and Blood Diseases, Children's Hospital of Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, - - 2013
We describe a 12-year-old girl, simultaneously presenting with colonic adenocarcinoma and medulloblastoma from bialleic deletions in the mismatch repair gene PMS2. Her distinctive physical and clinical findings are characteristic of constitutional mismatch repair deficiency syndrome. Earlier recognition of such findings may permit better screening and more effective treatment.
Almeida de Jesus Adriana A Translational Autoinflammatory Diseases Section, National Institute of Arthritis, Musculoskeletal and Skin diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD 20814, - - 2013
The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome ...
Fries W - - 2013
BACKGROUND: Recently, there have been increasingly frequent reports on the occurrence of macrophage activation syndrome (MAS) in patients with inflammatory bowel disease (IBD). Clinically, MAS is characterized mainly by fever, hepatosplenomegaly, cytopenia, and elevated circulating ferritin and CD25. Mortality, even if diagnosed rapidly, is high. AIM: To identify all reports ...
Farjadian Shirin - - 2013
Irritable bowel syndrome is a common chronic functional gastrointestinal disorder of unknown etiology. Serotonin is an important factor in sensory signaling in the brain-gut axis, which plays a key role in intestinal motility and secretion. Serotonin clearance is mediated by a specific protein called the serotonin reuptake transporter. Transcription activity ...
Nguyen-Minh Sylvie - - 2013
Chromosome 18 abnormalities rank among the most common autosomal anomalies with 18q being the most frequently affected. A deletion of 18q has been attributed to microcephaly, mental retardation, short stature, facial dysmorphism, myelination disorders, limb and genitourinary malformations and congenital aural atresia. On the other hand, duplications of 18q have ...
Djurdjevic Tanja - - 2013
INTRODUCTION: Posterior interosseous nerve (PIN) syndrome is a rare compression neuropathy of the PIN in the region of the supinator muscle, most common by the arcade of Frohse. We aimed to specify ultrasonographic findings in patients with PIN-syndrome in comparison to healthy volunteers. MATERIALS AND METHODS: Ultrasound images and clinical ...
Izumi Kosuke K Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, - - 2013
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an X-linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations in the MBTPS2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal transmembrane ...
Sato Daisuke - - 2013
Dumping syndrome, or rapid gastric emptying, is a frequent complication after gastric surgery. In this case, the patient was a 47-year-old woman who 10 years previously had undergone distal gastrectomy with Billroth I reconstruction for early-stage gastric cancer. She presented with symptoms of weakness, headache, palpitation, sweating, dizziness and significant ...
Vera-Lastra Olga - - 2013
An adjuvant is a substance that enhances the antigen-specific immune response, induces the release of inflammatory cytokines, and interacts with Toll-like receptors and the NALP3 inflammasome. The immunological consequence of these actions is to stimulate the innate and adaptive immune response. The activation of the immune system by adjuvants, a ...
Larrat Sylvain - - 2013
The pathogenesis of the recently recognized "red vent syndrome" in wild Atlantic salmon (Salmo salar) is not fully understood. Pathologic observations indicate that this syndrome is associated with the presence of nonencapsulated larvae of the nematode Anisakis simplex in the body wall, the lower intestinal wall, and the visceral cavity ...
Togawa Hiroko - - 2013
Pierson syndrome (OMIM 609049) is typically characterized by congenital nephritic syndrome and peculiar ocular anomalies with microcoria. It is caused by mutations in LAMB2, which encodes laminin β2. Approximately 50 mutations of LAMB2 from approximately 40 unrelated families have been identified; however, most of them were from Western countries. Although ...
Dua Himanshu H Department of Paediatrics, NKP Salve Institute of Medical Sciences, - - 2013
Orofacial digital syndromes are a heterogeneous group of rare malformative diseases, characterised by abnormalities of the oral cavity, maxillofacial region and digits. Orofacial digital syndromes are classified into ten types with orofacial digital syndrome type II, Mohr's syndrome being transmitted as autosomal recessive disorder. Here a case of a full ...
Annigeri Venkatesh M - - 2013
We report a rare case of prune belly syndrome associated with congenital pouch colon, which was managed successfully.
Sevencan Adnan - - 2013
Jaffe-Campanacci syndrome (JCS) is a well-known condition with its clinical and radiological characteristics. Extraskeletal congenital anomalies of this syndrome include café-au-lait spots, mental retardation, cardiovascular abnormalities, ocular deformities, hypogonadism or cryptorchidism. Multiple non-ossifying fibromas are also characteristic bone lesions. In this article, we present a new syndrome mimicking JCS, which ...
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