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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, ...
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. ...
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 ...
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 ...
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 ...
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 ...
Ali Mohammed Arshad MA Department of Anesthesiology and Intensive Care, Salmania Medical Complex, Manama, - - 2014
Thrombotic thrombocytopenic purpura (TTP) is a rare syndrome of unknown cause with an estimated incidence of one case per million. The disease is characterized by a pentad of symptoms: Thrombocytopenia, microangiopathic hemolytic anemia, neurologic changes, renal dysfunction, and fever. It causes thrombosis in the microvasculature of several organs, producing diverse ...
Klootwijk Enriko D ED From the Centre for Nephrology (E.D.K., H.C.S., D.B., G.J., H.C., A.M.H., R.J.U., R.K.) and Institute of Child Health (D.B., R.K.), University College London, and Biomolecular Medicine, Imperial College London (S.L.R., A.D.W., E.H., J.K.N.) - both in London; the Departments of Medical Cell Biology (M.R., C.B., D.P., C.S., R. Warth), Internal Medicine III (K.R.), Internal Medicine II (S.W.R.), and Molecular and Cellular Anatomy (R. Witzgall) and the Institutes of Functional Genomics (J.R., K.E., N.A., P.J.O., K.D.) and Pathology (J.S.), University of Regensburg, and the Department of Radiology, Barmherzige Brueder Hospital (N.Z.) - all in Regensburg, Germany; the National Human Genome Research Institute (A.H.-W., S.L.R., H.C.S., K.O., I.B., D.M.K., W.A.G., R.K.) and National Heart, Lung, and Blood Institute (Y.I.), National Institutes of Health, Bethesda, MD; the Division of Pediatric Nephrology, University of Florida, Jacksonville (A.T., M.I.); the Genome Biology Department, Australian National University, Canberra, ACT, Australia (M.A.-B.); Kitasato University Medical Center, Saitama, Japan (H.N.); and the Department of Pathology, Northwestern University, Chicago (Y.J., - - 2014
In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause and underlying defect remain unknown. We clinically and genetically characterized members of a five-generation black family with isolated autosomal dominant Fanconi's ...
Norasyikin A W AW Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Kuala Lumpur, - - 2014
Objective: To report an uncommon presentation of a rare case of autoimmune polyglandular syndrome type IIIb in an elderly woman. Clinical Presentation and Intervention: A 62-year-old woman presented with anaemic symptoms and jaundice. Blood tests showed macrocytic anaemia due to vitamin B12 deficiency with Coombs negative haemolysis. A thyroid function ...
Dahmani O O Department of Nephrology and Dialysis, Louis Jaillon General Hospital, Saint Claude, - - 2014
We report a case of an 80-year-old Caucasian woman on maintenance hemodialysis for almost three years through a right-tunneled jugular catheter. She presented with recurrent epistaxis for which she was periodically blood transfused despite erythropoietin therapy. She continued manifesting epistaxis, which was progressively emerging as a sign related to superior ...
Erfani T T Department of Rheumatology, Westmead Hospital, New South Wales, - - 2014
Gross ascites is a rare presentation of lupus. Ascites in lupus may be due to lupus peritonitis or secondary to one of the complications including nephrotic syndrome. The ascites due to lupus peritonitis has been described as exudative with a serum-ascites albumin gradient (SAAG) below 11 g/L, unless associated with ...
Kudo Yujin Y Department of Thoracic Surgery, Hachioji Medical Center, Tokyo Medical - - 2014
Chylothorax results from various causes, such as malignancy, trauma, or infection. POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) is a multisystemic syndrome that is associated with plasma cell disorder. Pleural effusion is a common manifestation of POEMS syndrome, but the association of POEMS syndrome with chylothorax has ...
Lee Hye Won HW Division of Gastroenterology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, - - 2014
Hemolytic uremic syndrome (HUS) is a rare thrombotic complication characterized by a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. HUS may be caused by several different conditions, including infection, malignancy, and chemotherapeutic agents, such as mitomycin, cisplatin, and most recently, gemcitabine. The outcome of gemcitabine-induced HUS is ...
Nishimura Nahoko N Division of Nephrology and Rheumatology, Department of Internal Medicine, University School of Medicine, Nagakute, Aichi, 480-1195, - - 2014
A 66-year-old woman receiving continuous ambulatory peritoneal dialysis developed acute respiratory distress 12 hours after a fall. Blood gas analysis revealed hypoxia (PaO2 67.7 torr) and metabolic acidosis with an increased anion gap, consistent with lactic acidosis (lactate, 86.5 mg/dL; normal range, 4.0-16.0). Magnetic resonance imaging showed a lumbar vertebral ...
Mentula Panu - - 2014
Severe acute pancreatitis has high mortality, but multiple and timely interventions can improve survival. Early in the course of the disease aggressive fluid resuscitation is needed for the prevention and treatment of shock. In conjunction with leaking capillaries this results in increased tissue edema, which may lead to intra-abdominal hypertension ...
Yoo Ki-Bong KB Department of Preventive Medicine and Institute of Health Services Research, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun- gu, Seoul 120-752, Korea. - - 2014
Objective: The purpose of this study is to find out the association between eating breakfast, breakfast patterns, and the metabolic syndrome. Methods: We used the fourth Korean National Health and Nutrition Examination Survey from 2007 to 2009. A total of 16,734 subjects were included. Breakfast dietary patterns were extracted by ...
Ono Yosuke Y Department of Obstetrics and Gynecology, Kurobe City Hospital, Mikkaichi 1108-1, Kurobe, Toyama, Japan ; Department of Obstetrics and Gynecology, University of Toyama, Sugitani 2630, Toyama, Toyama, - - 2014
Several etiologies have been proposed for erythrocytosis associated with uterine leiomyoma. We report a case of erythrocytosis associated with a large uterine leiomyoma, in which specific immunostaining for erythropoietin was positive. A 55-year-old woman, gravida 0, para 0, was referred to our hospital for treatment for a large uterine myoma ...
Crowley Rachel K - - 2014
This is the first report of which the authors are aware to describe this c.2166delinsGG mutation in X-linked hypophosphataemia and to describe normalisation of renal threshold for phosphate excretion after parathyroidectomy for tertiary hyperparathyroidism in X-linked hypophosphataemia. We present the case of a 34-year-old Caucasian woman with X-linked hypophosphataemia. She ...
Abidi Kamel K Pediatric Nephrology Department, Charles Nicolle Hospital, - - 2014
Introduction: Senior-Loken syndrome is a rare entity that combines familial nephronophthisisand retinal dystrophy. It has an autosomal recessive inheritance pattern and is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the first or second decades of life. Systemic associations of this syndrome include sensorineural hearing ...
Van Fraeyenhove Frank F Department of Medical Oncology, Ziekenhuisnetwerk Antwerpen, Antwerp, - - 2014
Pancreatic neuroendocrine tumors (NETs), including poorly differentiated carcinomas (NECs), are rarely encountered. The majority of these tumors do not secrete excess hormones, but functioning NETs produce large amounts of vasoactive peptides and may cause carcinoid syndrome. Synthetic somatostatin analogs (SSAs) have been widely used in NETs for control of hormonal ...
Nagappa Madhu M Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, - - 2014
Abetalipoproteinemia is an uncommon cause of ataxia and retinitis pigmentosa (RP). Most of the neurological and ocular manifestations occur secondary to deficiency syndromes that is consequent to fat malabsorption from the small intestine. In this report, we have described the phenotype of a young adult female who manifested with recurrent ...
Akbari Mohammad Taghi MT Department of Medical Genetics, Tarbiat Modares University, Al-Ahmad Expressway, Tehran, Iran, - - 2013
Thiamine-responsive megaloblastic anemia (TRMA) or Roger syndrome is a rare autosomal recessive disorder characterized by the occurrence of multiple clinical manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. A few patients have been also described with congenital cardiac malformations. The patients usually respond to treatment with pharmacological doses of ...
Sawai Toshihiro T Department of Pediatrics, Shiga University of Medical Science, Otsu, - - 2013
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 ...
Zhu Yin - - 2013
Etiological diagnosis is an important part of the diagnosis and treatment of acute pancreatitis. Hantavirus infection is a rare cause of acute pancreatitis, which is easy to ignore. There is a need to analyze clinical features of acute pancreatitis caused by Hantavirus. This is a retrospective study conducted from May ...
Barazzoni Rocco R 1Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, - - 2013
A biomarker can be defined as a measurable variable that may be used as an indicator of a given biological state or condition. Biomarkers have been used in health and disease for diagnostic purposes, as tools to assess effectiveness of nutritional or drug intervention, or as risk markers to predict ...
Xu Mei M Department of Opthalmology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Lab of Ophthalmology, Chongqing Eye Institute , Chongqing , P. R. China - - 2013
Abstract Purpose: Vogt-Koyanagi-Harada (VKH) syndrome is a multisystem disorder presumed to be mediated by an autoimmune response. Recent studies have shown that interleukin (IL) 25 was involved in the T-cell immune response. This study analyzed the expression and potential role of IL-25 in the pathogenesis of VKH syndrome. Methods: The ...
Wang Rong - - 2013
A previously healthy young female, presenting with nausea, vomiting, diarrhea, anemia, thrombocytopenia, and acute renal failure, was admitted to our hospital. Her clinical and histological features were consistent with both hemolytic uremic syndrome and IgA nephropathy, and she responded to steroid treatment, plasma transfusion, and gamma globulin therapy and did ...
Arambewela M H MH University Medical Unit, Teaching Hospital, Karapitiya, Sri Lanka. - - 2013
Acute hypokalemic periodic paralysis (HPP), a clinical syndrome characterised by acute systemic weakness and low serum potassium (K+), is a rare but treatable cause of acute limb weakness. Hypokalemia can be caused by K+ loss via the kidneys or extra renal routes mainly the gut, or due to transcellular potassium ...
Dabke Pooja S - - 2013
Background Gilbert syndrome is characterized by mild unconjugated hyperbilirubinemia. The high levels of bilirubin could be related to the co-inheritance of Gilbert syndrome determined either by mutations of the coding region or by variation in the (TA)n motifs of the promoter region of the bilirubin UGT1A1 gene. The co-inheritance of ...
Liu Qing-Feng - - 2013
San-Huang formula is a popular traditional Chinese medicine (TCM) preparation to replenish Qi, resolve phlegm, dissipate blood stasis, and therapy metabolic syndrome in China. Metabolic syndrome, which is accompanied by Qi and blood stasis, mainly arises from spleen deficiency in essence. There is limited information available for differences of pharmacokinetic ...
Grover Casey A - - 2013
As early as 1826, divers diving to great depths noted that descent often resulted in a phenomenon of intoxication and euphoria. In 1935, Albert Behnke discovered nitrogen as the cause of this clinical syndrome, a condition now known as nitrogen narcosis. Nitrogen narcosis consists of the development of euphoria, a ...
Tsuchida Yohei - - 2013
Dialysis disequilibrium syndrome is characterized by neurological symptoms resulting from cerebral edema, which occurs as a consequence of hemodialysis. Dialysis disequilibrium syndrome most often occurs in patients who have just started hemodialysis, during hemodialysis, or soon after hemodialysis; although it may also occur in patients who are under maintenance hemodialysis ...
Cornec-Le Gall Emilie - - 2013
A 20-year-old man was hospitalized for malignant hypertension, mechanical hemolysis, and kidney failure. Kidney biopsy confirmed glomerular and arteriolar thrombotic microangiopathy. Etiologic analyses, which included ADAMTS13 activity, stool culture, complement factor proteins (C3, C4, factor H, factor I, and MCP [membrane cofactor protein]), anti-factor H antibodies, HIV (human immunodeficiency virus) ...
Tojo Akihiro - - 2013
The kidneys play an important role in protein metabolism. Renal tubules reabsorb 3 g of albumin under normal conditions, and exhibit a 6-fold increase in the reabsorption of albumin in patients with focal segmental glomerulosclerosis. The capacity of tubular lysosomal proteolysis can be increased up to 8-fold; however, proteinuria over the ...
Vasiliadisl K K First Surgical Department, General Hospital Papageorgiou, Nea Efkarpia 564 03, Thessaloniki, Greece. - - 2013
We report a case of an ampullary carcinoma presenting as acute pancreatitis in a patient with familial adenomatous polyposis (FAP) syndrome and severe duodenal adenomatosis. A 48-year-old woman was hospitalised because of an episode of acute pancreatitis. She had a history of prophylactic total colectomy for FAP 2 years earlier. ...
L Gulseth Hanne - - 2013
Vitamin D is essential in bone mineralization and calcium homeostasis, and an increasing body of evidence suggests that vitamin D may be important for maintaining extraskeletal health, including having beneficial effects on cardiometabolic outcomes. Vitamin D deficiency is widespread, but the role of vitamin D in the metabolic syndrome is ...
Shafqat H - - 2013
We report the case of a 48-year-old man with acquired Fanconi syndrome due to IgG-kappa monoclonal gammopathy, who received a single dose of denosumab 60 mg for secondary prevention of skeletal fractures, in conjunction with oral calcium and vitamin D supplementation. The treatment was complicated with a severe, symptomatic hypocalcemia occurring ...
Du Yujun - - 2013
Cardiorenal syndrome (CRS) is characterized as a syndrome involving both the cardiovascular system and kidneys. Due to its complexity and high mortality, it has becoming a significant burden and a universal clinical challenge to society worldwide. The mechanisms underlying CRS are potentially multifactorial, including hemodynamic alterations, neurohormonal activation, inflammation, oxidative ...
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