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Sihuay-Diburga D J - - 2014
Superior mesenteric artery syndrome (SMAS) has been proposed as a rare cause of proximal bowel obstruction resulting from compression of the third portion of the duodenum secondary to narrowing of the space between the aorta and superior mesenteric artery. The main risk factors associated with SMAS are significant weight loss, ...
Le Treut C C Service de dermatologie, bâtiment des spécialités médicales, CHU de Nancy allée du Morvan, Vandoeuvre-les-Nancy, - - 2014
Molluscum contagiosum (MC) is caused by a DNA virus of the poxvirus group. It is common in children, and is also found in sexually active adults and HIV-seropositive patients. Cellular immunity is essential to controlling MC virus infection. We report the first observation of a patient with stage IV Sezary ...
Turner-McGrievy Gabrielle G Arnold School of Public Health, Department of Health Promotion, Education, and Behavior Discovery I, University of South Carolina, 915 Greene Street, Room 529, Office #552, Columbia, SC, 29208, USA, - - 2014
Approximately 20 %-25 % of adults worldwide have metabolic syndrome. Vegetarian and vegan diets have demonstrated effectiveness in improving body weight, glycemic control, and cardiovascular risk factors, as compared with conventional therapeutic approaches, and are potentially useful in the prevention of metabolic syndrome. This article consists of two steps: (1) a review ...
Chen Li-Ju LJ Li-Ju Chen, Department of Nutrition, Mackay Memorial Hospital, Taitung 91202, - - 2014
To present our experience with refeeding syndrome in southeastern Taiwan. We conducted a retrospective study during a 2-year period at the Mackay Memorial Hospital, Taitung Branch. We enrolled patients with very little or no nutrition intake for more than 10 d, a high risk group of refeeding syndrome, including those ...
Narla Anupama A Division of Pediatric Hematology/Oncology, Lucile Packard Children's Hospital, Stanford University School of Medicine, Stanford, CA, USA; Division of Hematology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, - - 2014
Haploinsufficiency of ribosomal proteins (RPs) and upregulation of the tumour suppressor TP53 have been shown to be the common basis for the anaemia observed in Diamond Blackfan anaemia and 5q- myelodysplastic syndrome. We previously demonstrated that treatment with L-Leucine resulted in a marked improvement in anaemia in disease models. To ...
Vogt Barbara Perez BP 1 Department of Internal Medicine, Faculdade de Medicina de Botucatu, UNESP, Univ Estadual Paulista , São Paulo, Brazil - - 2014
Abstract Background: Chronic kidney disease (CKD) and metabolic syndrome are characterized by overlapping disorders, including glucose intolerance, hypertension, dyslipidemia, and, in some cases, obesity. However, there are no specific criteria for the diagnosis of metabolic syndrome in CKD. Metabolic syndrome can also be associated with increased risk of mortality. Some ...
Kaneko Hiroto - - 2014
Deletions of chromosome 7 are often detected in myelodysplastic syndrome. The most commonly deleted segments are clustered at band 7q22. A critical gene is therefore suggested to be located in this region. We report a patient with myelodysplastic syndrome whose marrow cells carried an inversion of 7q22 and q36 as ...
Varma Rajeev R From the Department of Radiology Harbor-UCLA Medical Center, Torrance, - - 2014
A 36-year-old woman presented with a calcium level of 15.7 mg/dL (normal, 8.5-11.0 mg/dL) and an extremely elevated parathyroid hormone level of 1549.6 pg/mL (normal, 10.0-65.0 pg/ mL). She subsequently underwent a parathyroid scan and ultrasound evaluation, which suggested parathyroid carcinoma. Biopsy of a lytic lesion in her left iliac ...
Bottomley Sylvia S SS Department of Medicine, University of Oklahoma College of Medicine, 755 Research Park, Suite 427, Oklahoma City, OK 73104, USA. Electronic address: - - 2014
Sideroblastic anemias (SAs) may be acquired or congenital and share the features of disrupted utilization of iron in the erythroblast, ineffective erythropoiesis, and variable systemic iron overload. Congenital forms can have associated syndromic features or be nonsyndromic, and many of them have mutations in genes encoding proteins involved in heme ...
Cheung K Kt KK Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong - - 2014
Cushing's syndrome due to exogenous steroids is common, as about 1% of the general populations use exogenous steroids for various indications. Although endogenous Cushing's syndrome due to ectopic adrenocorticotropic hormone from a pancreatic neuroendocrine tumour is rare, a correct and early diagnosis is important. The diagnosis and management require high ...
Peck Joshua R JR Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, - - 2014
A 48-year-old man with cirrhosis secondary to nonalcoholic steatohepatitis and chronic hepatitis C infection underwent a successful orthotopic liver transplant from a B+ donor without intraoperative complications. His postoperative course was complicated by hemolytic anemia, and he was ultimately diagnosed as having passenger lymphocyte syndrome. Passenger lymphocyte syndrome is a ...
Jiang Jingjing - - 2014
A rare syndrome of watery diarrhea, hypokalemia and achlorhydria (WDHA) is usually caused by pancreatic endocrine tumors that secrete excessive vasoactive intestinal polypeptide (VIP). Here we report a rare case of WDHA caused by a pheochromocytoma. A 45-year old male presented with persistent and progressive watery diarrhea for half a ...
Dessauvagie Benjamin F BF Department of Tissue Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, Perth, WA 6009, Australia. Electronic address: - - 2014
Brain metastases are the most common intracranial malignancy in adults and may occasionally deposit within a pre-existing primary brain neoplasm. We describe, in two directly related family members, the rare occurrence of renal cell carcinoma (RCC) metastasis to haemangioblastoma (HB) in the context of Von Hippel-Lindau syndrome. Detection of this ...
Kostić Vladimir S VS Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul. Dr Subotića 6, 11000, Belgrade, Serbia, - - 2014
Huntington disease (HD), the most common inherited cause of chorea, is an autosomal dominant disorder, caused by an expanded trinucleotide CAG repeat (>39) in the HTT gene on chromosome 4p16.3. Among patients diagnosed as HD solely on clinical grounds, a certain number was negative on genetic testing for HD. Therefore, ...
Javanbakht Mohammad H - - 2014
Background and objectives: Nephrotic syndrome is a chronic disease especially common in the childhood and adolescence. Reactive oxygen species (ROS) and free radicals have significant role in the pathogenesis of nephrotic syndrome. The aim of this study was to evaluate the effect of soy protein and genistein (main isoflavone of ...
Gracia-Iguacel Carolina - - 2014
The presence of malnutrition in chronic kidney disease (CKD) is well-known. The discovery in the last 15 years of pathophysiological mechanisms that lead to this process, such as anorexia, the increase of protein catabolism and inflammation, has created the need for a new name by the International Society of Renal ...
Le Andrew Q AQ Department of Neurosurgery, Massachusetts General Hospital, and Harvard Medical School, Boston, - - 2014
Jugular foramen syndrome is a condition characterized by unilateral paresis of cranial nerves IX, X, and XI in the setting of extrinsic compression. Here, the authors describe the case of a giant cervical osteophyte resulting in compression of the jugular foramen. A 74-year-old man who presented with progressive dysphagia and ...
McMillen Kerry K KK 1 Seattle Cancer Care Alliance , Seattle, - - 2014
Abstract Background: Improved survival after allogeneic hematopoietic cell transplantation (allo-HCT) enables us to learn more about potential late complications after HCT, one of which is metabolic syndrome. There are no studies investigating the prevalence or development of metabolic syndrome within the first year post-HCT in adult myeloablative transplant recipients. Methods: ...
Tsantoula Fani F *Department of Immunology and Histocompatibility, School of Health Sciences, Faculty of Medicine, University of Thessaly, Larissa †Department of Hematology, Papageorgiou General Hospital, Thessaloniki, - - 2014
A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. A detailed family history and laboratory examinations revealed the presence of early-onset cataract in her 33-year-old mother, ...
Fallahzadeh Mohammad Amin - - 2014
A 9-year-old boy presented with fever not responding to antibiotic therapy and elevated blood urea and serum creatinine levels. The patient developed microangiopathic hemolytic anemia and thrombocytopenia during the hospital stay. Kidney biopsy confirmed the diagnosis of atypical hemolytic uremic syndrome (HUS). The patient had sufficient urine output, normal blood ...
Hynes Ann Marie AM Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, United - - 2014
Nephronophthisis (NPHP) is the major cause of pediatric renal failure, yet the disease remains poorly understood, partly due to the lack of appropriate animal models. Joubert syndrome (JBTS) is an inherited ciliopathy giving rise to NPHP with cerebellar vermis aplasia and retinal degeneration. Among patients with JBTS and a cerebello-oculo-renal ...
Chhabra Puneet P Department of Gastroenterology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India and Department of Surgery, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, - - 2014
Simultaneous dilation of both the common bile duct and the pancreatic duct (double-duct sign) is usually because of ampullary or pancreatic tumours. Here we report an unusual cause of double-duct dilation; we describe the case of a 49-year-old female who developed afferent loop syndrome after pylorus-preserving pancreaticoduodenectomy: cross-sectional imaging of ...
Ciarla Sara S University of L'Aquila, Department of Life, Health and Environmental Sciences , San Salvatore Hospital, L'Aquila , - - 2014
Abstract Objective: To investigate the relationship among serum uric acid levels and metabolic syndrome. Materials and methods: Anthropometric parameters, serum uric acid and metabolic parameters were evaluated in 139 subjects. Results: Serum uric acid levels were significantly higher in subjects with than without metabolic syndrome (p < 0.0001), and raised gradually with ...
Huang Chiao-Yu CY Department of Family Medicine, National Taiwan University Hospital, Taipei, - - 2014
Low vitamin D status has been linked to obesity, insulin resistance, and metabolic syndrome. In the present study, we aimed to explore the nature and strength of the relationship between vitamin D and metabolic syndrome among non-diabetic young adults. This was a campus-based cross-sectional study of 355 non-diabetic young adult ...
Parli Sara E SE Department of Pharmacy Services, UK HealthCare, Lexington, Kentucky (Drs Parli and Magnuson); and Department of Pharmacy Services, Jewish Hospital KentuckyOne Health, Louisville, Kentucky (Dr Ruf). Sara E. Parli, PharmD, is a critical care clinical pharmacist at UK HealthCare. She works primarily with the acute general surgery/trauma team to provide comprehensive pharmaceutical care to patients, including intravenous therapy. She also provides adjunct assistance to the nutrition support service. Kathryn M. Ruf, PharmD, BCPS, is the critical care specialist at Jewish Hospital in Louisville, Kentucky. She has a special interest in nutrition support therapies and has recently completed research focusing on refeeding syndrome in a heterogeneous intensive care unit population. Barbara Magnuson, PharmD, BCNSP, is the coordinator and clinical pharmacist on a multidisciplinary nutrition support service at UK HealthCare that promotes the maintenance or restoration of optimal nutritional therapy for patients, primarily in critical care areas, receiving parenteral and/or enteral - - 2014
Refeeding syndrome may occur after the reintroduction of carbohydrates in chronically malnourished or acutely hypermetabolic patients as a result of a rapid shift to glucose utilization as an energy source. Electrolyte abnormalities of phosphorus, potassium, and magnesium occur, leading to complications of various organ systems, and may result in death. ...
Roderique Joseph D JD Department of Anesthesiology, Virginia Commonwealth University Medical Center, Richmond, Virginia. Electronic address: - - 2014
We describe a case of hypotension on cardiopulmonary bypass for coronary artery bypass grafting, double valve repairs, and patent foramen ovale closure. The patient experienced vasoplegic syndrome while on cardiopulmonary bypass. He was treated with high-dose hydroxocobalamin (vitamin B12). His blood pressure responded rapidly, obviating any further vasopressor requirements.
Soomro Abdulsalam - - 2014
We report what we believe is the first case of posterior reversible encephalopathy syndrome (PRES) secondary to dialysis disequilibrium syndrome (DDS) in patients in whom all other possible causes of PRES were excluded and in whom a transient episode of tactile hallucination also occurred. We believe that this case of ...
Nishimoto Mitsutaka M Hematology, Graduate School of Medicine, Osaka City - - 2014
We describe an 18-year-old man with acute leukemia who presented with posterior reversible encephalopathy syndrome (PRES) shortly after developing acute pancreatitis. On day 15 after the third consolidation course with high-dose cytarabine, treatment with broad-spectrum antibiotics was initiated for febrile neutropenia. On day 16, he developed septic shock, and subsequently, ...
Parkash Om O Department of Medicine, The Aga Khan University Hospital, - - 2014
We report the case of a 20-year-old anorexic girl (BMI=12.9), who was misdiagnosed the first time and developed severe electrolyte imbalances due to lack of awareness about refeeding syndrome. Few cases of RS have been reported in literature and protocols have been suggested for prevention and management of this syndrome, ...
Tahara Tomomitsu T Department of Gastroenterology, Fujita Health University School of Medicine, Toyoake, - - 2014
Plummer-Vinson syndrome (PVS) is a rare entity characterized by upper esophageal webs and iron deficiency anemia. We report a case of PVS whose esophageal web was rapidly improved by iron therapy. A 77-year-old woman was admitted to our hospital with complaints of dysphagia, vomiting, shortness of breath and weight loss ...
Kashima Ayako A Faculty of Human Life and Environment, Nara Women's University, Nara, - - 2014
Several studies show that hyperuricemia, abnormally high levels of uric acid in the blood, frequently occurs in adult Down's syndrome patients, but paediatric research is scarce. We aimed to clarify its prevalence in paediatric Down's syndrome patients, and its association with lifestyle-related laboratory variables and nutritional intake, to consider possible ...
Park Joon Mo JM Division of Gastroenterology and Hepatology, Department of Internal Medicine, Yeugnam University College of Medicine, Daegu, - - 2014
Plummer-Vinson syndrome manifests as cervical dysphagia, iron deficiency anemia, an upper esophageal web, and atrophic glossitis. The cause of the esophageal web is thought to be iron deficiency anemia; however, the cause of Plummer-Vinson syndrome has not been established. Crohn's disease is usually accompanied by malnutrition and iron deficiency anemia; ...
Martinelli Diego D Unit of Metabolism, Department of Pediatrics, Bambino Gesu Children's Hospital, Rome, Italy; Section on Translational Neuroscience, Molecular Medicine Program, NICHD/NIH, Bethesda, - - 2014
MEDNIK (mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia) syndrome has been recently described as a new disorder of copper metabolism. This multisystem disease combines clinical and biochemical signs of both Menkes and Wilson's diseases, in which liver copper overload is treatable using zinc acetate therapy. MEDNIK syndrome is caused ...
Gagne Katelyn E KE Division of Hematology/Oncology, Stem Cell Program, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United - - 2014
Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been implicated. Both syndromes share several features including early-onset of severe anemia, variable non-hematologic manifestations, sporadic ...
Johri A M AM Department of Medicine, Division of Cardiology, Cardiovascular Imaging Network at Queen's University, Kingston, ON, Canada. Electronic address: - - 2014
As the incidence of metabolic syndrome increases, there is also a growing interest in finding safe and inexpensive treatments to help lower associated risk factors. l-carntine, a natural dietary supplement with the potential to ameliorate atherosclerosis, has been the subject of recent investigation and controversy. A majority of studies have ...
Stagi Stefano S Health's Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy. Electronic address: - - 2014
The periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is an autoinflammatory disease characterized by regularly recurrent fever episodes due to seemingly unprovoked inflammation. To assess serum 25-hydroxyvitamin D [25(OH)D] concentrations in children with PFAPA syndrome and evaluate longitudinally the effect of wintertime vitamin D supplementation on the ...
Santos Paulo Roberto PR federal university of - - 2014
Bardet-Biedl syndrome is rare. Although its diagnosis depends on cardinal clinical manifestations which appear in childhood, we report four cases of Bardet-Biedl syndrome lately diagnosed in a dialysis center. Three cases were diagnosed in end-stage renal disease patients when they started maintenance hemodialysis, and one case was diagnosed through screening ...
Suzuki Kazuhito K 1Department of Medical Hematology/Oncology, The Cancer Institute Hospital, Japanese Foundation for Cancer - - 2014
Tumor-lysis syndrome is a rare complication in patients with multiple myeloma. However, bortezomib treatment for myeloma is often associated with tumor-lysis syndrome. We developed an index called the rapid anemia progression index, which represents the duration and progression of anemia, to evaluate risk factors for tumor-lysis syndrome. We retrospectively reviewed ...
Adès Lionel L Service d'hématologie, Hôpital St Louis (Assistance Publique Hôpitaux de Paris) and Paris 7 University, Paris, - - 2014
Myelodysplastic syndromes are clonal marrow stem-cell disorders, characterised by ineffective haemopoiesis leading to blood cytopenias, and by progression to acute myeloid leukaemia in a third of patients. 15% of cases occur after chemotherapy or radiotherapy for a previous cancer; the syndromes are most common in elderly people. The pathophysiology involves ...
Maiorana Arianna A Division of Metabolism and Research Unit of Metabolic Biochemistry, Department of Pediatric Medicine, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy. Electronic address: - - 2014
Refeeding syndrome can occur in several contexts of relative malnutrition in which an overaggressive nutritional support is started. The consequences are life threatening with multiorgan impairment, and severe electrolyte imbalances. During refeeding, glucose-involved insulin secretion causes abrupt reverse of lipolysis and a switch from catabolism to anabolism. This creates a ...
Misceo Doriana D Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, - - 2014
Stormorken syndrome is a rare autosomal dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache and ichthyosis. A heterozygous missense mutation in STIM1 exon 7 (c.910C>T; p.Arg304Trp) (NM_003156.3) was found to segregate with the disease in six Stormorken syndrome patients in four families. ...
Lim Ng Keng NK Department of Surgery, University Malaya, Kuala Lumpur, - - 2014
Superior vena caval syndrome (SVCS) is a debilitating condition attributed to malignancy in more than 70% of cases. However, solitary head and neck metastases arising from renal cell carcinomas without evidence of disease elsewhere are rare. We report a case of renal cell carcinoma presenting as a rapidly growing right ...
Lameris Anke L L - - 2014
Abstract Background: Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by the deletion of 26-28 genes on chromosome 7. Fifteen percent of WBS patients present with hypercalcaemia during infancy, which is generally mild and resolves spontaneously before the age of 4 years. The mechanisms underlying the transient hypercalcaemia in ...
Leem Ah Young AY Division of Medical Oncology, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, - - 2014
Ifosfamide-induced Fanconi syndrome is a rare complication that typically occurs in young patients due to a cumulative dose of ifosfamide > 40-60 g/m(2), a reduction in kidney mass, or concurrent cisplatin treatment. It is usually characterized by severe and fatal progression accompanied by type II proximal renal tubular dysfunction, as ...
Tanemoto Masayuki M Division of Nephrology, Department of Internal Medicine, Teikyo University School of Medicine, Tokyo 174-8605, Japan. Electronic address: - - 2014
The Kir4.1/Kir5.1 channel mediates basolateral K(+) recycling in renal distal tubules; this process is critical for Na(+) reabsorption at the tubules. Mutations in Kir4.1 are associated with EAST/SeSAME syndrome, a genetic disorder characterized by renal salt wasting. In this study, we found that MAGI-1 anchors Kir4.1 channels (Kir4.1 homomer and ...
Bernabé García Juana J Cátedra de Riesgo Cardiovascular, Universidad Católica de Murcia, Guadalupe, Murcia, - - 2014
1) Nutritional assessment of the diet followed by patients with metabolic syndrome, and 2) biochemical analysis of the oxidation-reduction level in patients with metabolic syndrome. A cross-sectional study was conducted in patients with metabolic syndrome in Murcia. Fifty-three patients, 33 with and 20 without (control group) metabolic syndrome, were selected. ...
Motobayashi Mitsuo M Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, - - 2014
Several immune mechanisms are suspected in the unknown etiology of West syndrome (WS). We report a male infant who suffered from WS and X-linked T-B+NK- severe combined immunodeficiency (X-SCID) with a missense mutation of the IL2RG gene (c.202G>A, p.Glu68Lys). He promptly began vitamin B6 and valproic acid treatment, but infantile ...
Darrigo Luiz Guilherme LG Jr Bone Marrow Transplantation Unit, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil; Pediatric Oncology Unit, Ribeirão Preto Medical School, University of São Paulo, São Paulo, - - 2014
Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders. We report the case of a six-yr-old boy with Seckel syndrome and aplastic anemia who underwent successful allogeneic bone marrow transplantation from ten of ten ...
Sawai Toshihiro T Department of Pediatrics, Shiga University of Medical Science, Otsu, - - 2014
Atypical hemolytic uremic syndrome (aHUS) is rare and comprises the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Recently, abnormalities in the mechanisms underlying complement regulation have been focused upon as causes of aHUS. The prognosis for patients who present with aHUS is very poor, with the first ...
Nakaya Takeo T Department of Molecular Pathology, Tokyo Medical University, Tokyo, - - 2014
Shwachman-Diamond syndrome, which is characterized by pancreatic fatty degeneration, skeletal growth retardation, and hematological dysfunction, is a congenital disease caused by SBDS gene mutations. Although hematological disorders often accompany this syndrome, carcinomas associated with this syndrome have not been reported except in one breast cancer and one moderately differentiated pancreatic ...
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