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Hinz Laura E LE Division of Endocrinology, University of Calgary Calgary, - - 2014
Objectives: To present a case of symptomatic autoimmune adrenal insufficiency with initially normal serum cortisol. Also, to caution about limitations of the current diagnostic algorithm for adrenal insufficiency which does not reflect the pathophysiology of early disease.Methods: We describe the clinical presentation and relevant investigations of a patient ultimately found ...
Thim Signe B SB Department of Paediatrics, Aarhus University Hospital, - - 2014
Autosomal dominant hypocalcaemia (ADH) is caused by activating variants in the calcium sensing receptor (CASR) gene, but detailed information on the paediatric phenotype is limited. The current paper presents a case of severe ADH and systematically reviews the literature on ADH in children. We found that the severity of clinical ...
Zhang Li-Li LL Department of Respiratory & Critical Care Medicine, Xiangya Hospital, Central South University, Changsha 410008, - - 2014
Discuss and improve the understanding of the clinical characters and diagnostic methods of myelomatous pleurisy, particularly of the patients with pleural effusion as an initial manifestation. A 53-year-old male, who had been misdiagnosed as tuberculous pleurisy in a local hospital, was diagnosed as multiple myeloma (MM) with pleural infiltration. We ...
Wang Aileen K AK Department of Medicine, Queens Hospital Center, Mount Sinai School of Medicine, Jamaica, NY, - - 2014
We report a case of symptomatic hypomagnesaemia in medical intensive care unit that is strongly related to proton pump inhibitors (PPIs) and provide literature review. A 65-year-old male with severe gastroesophageal reflux on omeprazole 20 mg orally twice a day, who presented to the hospital with abdominal pain, nausea, diarrhea, ...
Lee Chia-Chieh CC Department of Obstetrics and Gynecology, Cathay General Hospital, Taipei, - - 2014
Primary hyperparathyroidism (PHPT) is a rare clinical entity in reproductive women. Unusual hypercalcemia causing pancreatitis in the peripartum period carries significant morbidity to both the fetus and the mother. A 38-year-old woman developed a morbid course of intractable intra-abdominal abscess by pancreatitis, hydronephrosis by renal lithiasis, and unusual neurological presentations ...
Carvalho Diogo C DC Centro de Investigação de Esclerose Múltipla, Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, - - 2014
The relationship between Sjögren's syndrome (SS) and neuromyelitis optica spectrum disorder (NMOSD) is not completely understood. We report two patients with both conditions and review 47 other previously reported cases meeting currently accepted diagnostic criteria, from 17 articles extracted from PubMed. Out of 44 patients whose gender was informed, 42 ...
Panagopoulos Periklis - - 2014
Leptospirosis is a zoonosis caused by the spirochete, Leptospira interrogans. While most cases of leptospirosis are mild to moderate, the course may be complicated by multiorgan dysfunction. We present a rare case of leptospirosis with acute myocarditis, pancreatitis, polyarthritis, mononeuritis multiplex and severe vasculitis with necrosis of the extremities. A ...
Hoesli Rebecca Chow RC *University of Michigan, Ann Arbor, Michigan; and †University of California, San Francisco, California, - - 2014
Very few eustachian tube anomalies have been published in the literature and have consisted of descriptions of diverticula, hypoplasia/aplasia, fistula, or aberrant associated musculature. We present a girl with a novel anomaly consisting of a eustachian tube duplication that originates in the nasopharynx and exits posterior to a microtic and ...
Uchida Hajime H Transplantation Center, National Center for Child Health and Development, Tokyo, - - 2014
CPM is one of the most serious neurological complications that can occur after OLT and is characterized by symmetrical demyelinization in the basis pontis. The etiology of CPM remains unclear, although the rapid correction of the serum sodium and CNI concentrations may be associated with the development of CPM. With ...
Chortis Vasileios V School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, B15 - - 2014
More than 40 years after its initial description by Brain et al, 'Hashimoto's encephalopathy' (HE) remains an enigmatic clinical entity((1)) .Although no universally accepted definition exists, commonly employed diagnostic criteria include an acute or subacute presentation with neuropsychiatric symptoms consistent with encephalopathy, presence of serum anti-thyroid antibodies and exclusion of alternative ...
Gencpinar Pinar P 1Department of Child Neurology, Faculty of Medicine, Akdeniz University, Antalya, - - 2014
Extrapontine myelinolysis is characterized by symmetric demyelination following rapid shifts in serum osmolality in the supratentorial compartment. Extrapontine myelinolysis in children is rare compared to adults. The most common underlying pathophysiology is rapid correction of hyponatremia. Only 2 cases were published after diabetic ketoacidosis without electrolyte imbalance in the English ...
Vujic I I Department of Dermatology, University of California San Francisco, San Francisco, CA, USA; Department of Dermatology, The Rudolfstiftung Hospital, Vienna, - - 2014
Mycoplasma pneumoniae, a bacterium known to be a common cause of pneumonia, has been documented to cause complications such as debilitating mucositis previously described as an atypical Stevens-Johnson syndrome without skin lesions. However, in the spectrum of epidermal dermatopathies, the condition is increasingly recognized as a separate entity, now termed ...
Wewalka Friedrich F 4th Department of Internal Medicine, Gastroenterology and Endocrinology, Elisabethinen Hospital, Fadingerstraße 1, 4020, Linz, Austria, - - 2014
A 33-year-old man presented with jaundice, mild pancreatitis, and some weight loss. Laboratory tests showed cholestatic icterus. Imaging revealed distal bile duct obstruction and a mass in the head of the pancreas suspicious for cancer. Besides the enlargement of the head, the whole pancreatic parenchyma was altered. Therefore, autoimmune pancreatitis ...
Jacobs Thomas P TP Division of Endocrinology, Department of Medicine, College of Physicians and Surgeons. Columbia University, NY, NY - - 2014
Context: Hypercalcemia, hypercalciuria, and recurrent nephrolithiasis are all common clinical problems. This case report illustrates a newly-described but possibly not uncommon cause of this presenting complex. Objective: Report a patient studied for over 30 years ,with the diagnosis finally made with modern biochemical and genetic tools. Design: Case report and ...
Laureano Andre A Hospital de Curry Cabral - Centro Hospitalar de Lisboa Central, Lisboa, - - 2014
Panniculitis is a recognized, but rare complication of α1-antitrypsin (A1AT) deficiency. Less than 60 cases have been reported, mostly in the homozygous PiZZ variant. We report the case of a 55-year old woman with A1AT panniculitis associated with the heterozygous phenotype PiMS and discrete reduction of A1AT serum levels. In ...
Wodowski Andrew J AJ University of Tennessee-Campbell Clinic Department of Orthopaedics & Biomedical Engineering, 956 Court Avenue, Suite E226, Memphis, TN, 38163, - - 2014
This case report describes a 54-year-old Hispanic male who developed femoral nerve palsy approximately 1 year after metal-on-metal total hip arthroplasty (MOM THA). Cobalt and chromium levels were 4.8 ppb and undetectable, respectively. MRI demonstrated a well-encapsulated pseudotumor that communicated with the anterior portion of the right hip, and EMG ...
- - 2014
Brucellosis is a multi-system infectious disease that presents with various manifestations and complications. Neurobrucellosis is an uncommon but serious presentation of brucellosis that can be seen in all stages of the disease. High index of suspicion, especially in endemic areas is essential to prevent morbidity from this disease. The case ...
Genuis Stephen J SJ Faculty of Medicine, University of Alberta, Edmonton, AB, Canada T6K - - 2014
There has been increasing recognition in the medical community and the general public of the widespread prevalence of gluten sensitivity. Celiac disease (CD) was initially believed to be the sole source of this phenomenon. Signs and symptoms indicative of nonceliac gluten sensitivity (NCGS), in which classical serum and intestinal findings ...
Sovrea Alina Simona AS Department of Medical Genetics, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania; - - 2014
Multiple endocrine neoplasia type 2 (MEN2) is a rare autosomal dominant monogenic disorder caused mostly by missense mutations in the RET (REarranged during Transfection) proto-oncogene on chromosome 10q11.2. MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with medullary thyroid carcinoma (MTC) incidence of 90-100%, bilateral ...
Tan Yongfang - - 2013
A 56-year-old man who was under chemotherapy presented with a 2-week history of erythema on the left palm, soles, glans penis and the foreskin with no itching and pain. Initially syphilid was suspected. However, both toluidine red unheated serum test (TRUST) and treponema pallidum particle agglutination assay (TPPA) were negative. ...
Guastafierro Salvatore - - 2013
A serum multiple monoclonal component (MC) is very rare. We here report 6 patients with 3 MCs. The triple MC was detected in all of them by immunofixation. 2/6 patients did not present hematological or oncological associated disease, while in the remaining 4, Waldenström macroglobulinaemia (2 cases), Polycythemia Vera and ...
Kandamany Nanda - - 2013
Congenital analbuminaemia is a very rare autosomal dominant disorder in which patients have no serum albumin and markedly low serum total protein concentration. Clinically patients present with mild oedema, hypotension, fatigue and lipodystrophy often with abnormal body habitus. With only around 50 reported cases in the literature worldwide, management of ...
Jin Jia-Lin - - 2013
All oral nucleoside analogues against hepatitis B virus, with an exception of telbivudine, have been reported causing lactic acidosis (LA). Here we report the first case of chronic hepatitis B developing severe refractory LA during telbivudine monotherapy. A 36-year-old man of Chinese origin received telbivudine antiviral treatment for chronic hepatitis ...
Jalilian Chris - - 2013
Immunoglobulin type gamma 4 (Ig)G4-related disease (IgG4-RD) is a relatively recently described clinical entity characterised by elevated levels of serum IgG4 and tissue infiltration of IgG4+ plasma cells in various organ systems. Cutaneous involvement is rare but is becoming increasingly appreciated; typically presenting as erythematous papules and/or nodules that are ...
Pukitis Aldis - - 2013
Secondary systemic (AA) amyloidosis is reported as a serious complication that occurs in long-standing Crohn's disease (CD), with an incidence of 0.3-10.9%. Various therapeutic approaches using medicines and elemental diet have been recommended, but still there are no established standards of treatment for secondary systemic amyloidosis in CD. Only a ...
Su Heng-Chuan HC Department of Urology, Ruijin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, - - 2013
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a distinctive subtype of Cushing's syndrome (CS), with different clinical manifestations according to the level of serum cortisol. Based on clinical manifestations and serum cortisol, we divide AIMAH into three types, subclinical AIMAH, clinical AIMAH and high-risk AIMAH, with varied treatment methods being adapted ...
Callaway Jonathan L A - - 2013
The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect sub-microscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in ...
Wong Kiong-Ming - - 2013
We report the case of a 38-year-old man who developed vanishing bile duct syndrome in association with Hodgkin's lymphoma. He was noted to have cervical lymphadenopathy and marked elevation of total serum bilirubin at diagnosis. He achieved complete remission with normalization of serum bilirubin after eight courses of Adriamycin, bleomycin, ...
Pandey Shivlal - - 2013
Immunoglobulin D multiple myeloma (IgD MM) accounts for almost 2% of all myeloma cases. It is associated with an increased frequency of undetectable or small monoclonal (M)-protein levels on electrophoresis; osteolytic lesions; extramedullary involvement; amyloidosis; a lambda (lambda) light chain predilection; renal failure; hypercalcemia; and, often, advanced disease at diagnosis. ...
Miyazaki Noriko - - 2013
We report an extremely rare case of primary ovarian Burkitt lymphoma. A 15-year-old girl was referred to our department because of persistent constipation and abdominal distension. Abdominal computed tomography and magnetic resonance imaging revealed a 10-cm-diameter solid tumor located on the right side of the uterus. Serum lactate dehydrogenase and ...
Gao Mao-Feng - - 2013
Simultaneous bilateral quadriceps tendon rupture is a rare injury that represents < 5% of all quadriceps tendon ruptures. It is generally associated with chronic metabolic disorders and is seen in patients with uraemia undergoing maintenance haemodialysis. The present case was a 46-year-old man who presented with pain and the inability to extend ...
Caputo Carmela - - 2013
Fifteen cases of lymphocytic hypophysitis due to IgG4-related disease have been reported demonstrating marked improvement with corticosteroid therapy. This is the first case of IgG4-related hypophysitis demonstrating improvement with azathioprine, where corticosteroids were initially tried but ceased due to concern regarding enlargement of the pituitary infiltrate. Case description and review ...
Luceri Patricia M - - 2013
The authors report a case of hypercalcemia in a 79-year-old woman that led to multiple hospitalizations. The case was challenging because the hypercalcemia was ultimately found to have 2 distinct causes. The patient initially presented with an elevated parathyroid hormone (PTH) level, consistent with primary hyperparathyroidism. She underwent parathyroidectomy and ...
Aghajanova Lusine - - 2013
In this report, we describe abrupt onset of secondary amenorrhea in a woman with history of chronic systemic sarcoidosis. Endocrinologic evaluation of her hypothalamic-pituitary axis revealed abnormally low levels of follicle-stimulating hormone, luteinizing hormone, and insulinlike growth factor 1 and elevated prolactin. Urine osmolality was low, and serum osmolality was ...
Morgan-Followell Bethanie - - 2013
To report a case of Lambert-Eaton myasthenic syndrome (LEMS) in a child and review the existing literature of LEMS in children. We report a pediatric case of LEMS with the classic clinical triad of proximal weakness, autonomic dysfunction, and areflexia; the characteristic increment in compound motor action potential on high-frequency ...
Nalotto Linda - - 2013
In this paper, we report our experience with the use of rituximab (RTX) in the treatment of refractory idiopathic inflammatory myopathies (IIM) and review the literature on this topic. Six adult patients (5 female, 1 male) with active IIM, as defined by persistent proximal muscle weakness, elevated serum muscle enzymes, ...
Alvarez-Camino J-C - - 2013
Objectives: Treatment of osteoarthritis (OA) using autologous conditioned serum (ACS) has become in recent years an alternative to consider in the approach of the degenerative joint disease of the knee. There is no support in the literature for the use of ACS for the treatment of OA of the temporomandibular ...
Wu Yongkang Y Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, - - 2013
Rituximab, an anti-CD20 monoclonal antibody, is widely used with good response for the treatment of B-cell lymphoma and various refractory autoimmune diseases. Although rituximab is effective, rare but serious pulmonary adverse reactions have been reported. We report on a case of rituximab-induced life-threatening interstitial lung disease in a patient with ...
Khan Tanya T - - 2013
Abstract Purpose: We report an unusual case of orbital IgG4-related disease and discuss the distinguishing characteristics of the ophthalmic disease subtype. Design: Case report. Methods: Literature review and case description. Results: Although lacrimal gland involvement has always been reported and elevated serum IgG4 is commonly observed, our case demonstrated neither ...
Su Jiann-Sheng JS Division of Gastroenterology and Hepatology, Kuang Tien General Hospital, Taichung 433, - - 2013
Hepatoid adenocarcinoma (HAC) is a rare but important special type of extrahepatic adenocarcinoma with clinicopathological presentation mimicking hepatocellular carcinoma (HCC), and prompt and correct diagnosis can be a challenge, especially in endemic areas with a high incidence of HCC. To date, HAC has only been reported in case series or ...
Nayak Hemanta Kumar - - 2013
Waldenstrom macroglobulinemia is a rare lymphoplasmacytic lymphoma characterized by a wide range of clinical presentations related to direct tumor infiltration and the production of IgM. Most commonly it presents with cytopenia, hepatosplenomegaly, lymphadenopathy, constitutional symptoms, and hyperviscosity syndrome. We report a case of Waldenstrom macroglobulinemia in an 60-year-old female who ...
SieroĊ„ Dominik - - 2013
Intervertebral disc calcification is a rare condition in children; in most cases, it is asymptomatic and therefore not diagnosed. In our study, we present a case of idiopathic intervertebral disc calcification within the cervical segment, at the level of C2/C3 and C4/C5 vertebrae in a 5-year-old girl with torticollis. Basic ...
Erden Abdulsamet - - 2013
Lithium is one of the drugs used widely in the treatment of mood disorders. However, it has a very narrow therapeutic index and side effects can be seen in many organ systems, one of which affects the kidneys. We can see varying degrees of renal damage associated with acute or ...
Cobanoglu Nazan - - 2013
A 6-year-old boy presented with recurrent pneumonia and diarrhoea for 3 years. He had extensive mediastinal lymphadenopathy and atelectasis with low serum levels of IgA, IgG and IgG3. An inguinal lymph node biopsy demonstrated histological and histochemical features of Rosai-Dorfman disease. There was emperipolesis and histiocytes were immune-positive for S100 ...
McFarlane M E C - - 2013
Despite the fact the mucocoele of the appendix is a rare entity it has been the subject of much interest in the literature. The term mucocoele refers to cystic dilatation of the appendix filled with mucin resulting from proximal obstruction of the appendix lumen. We report two patients presenting with ...
Nakajima Nobuhito - - 2013
We herein report the case of a 58-year-old man with advanced esophageal carcinoma who developed posterior reversible encephalopathy syndrome (PRES). He initially presented with a severe consciousness disturbance. A subsequent examination revealed hypercalcemia and an elevated serum parathyroid hormone-related peptide (PTHrP) level. Magnetic resonance imaging performed on admission and 24 ...
Al-Matary Abdulrahman A Department of Neonatology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. - - 2013
The authors review the role of selenium and highlight possible low selenium levels in soil that may result in deficient states in Saudi Arabia. The authors report a case of selenium-responsive cardiomyopathy in a 15-month old Saudi Arabian boy. This case of selenium deficiency causing dilated cardiomyopathy is presented with ...
Jarraya Mohamed - - 2012
Fluid-fluid level in bone metastases is an extremely rare finding, with only five case reports published in the literature. Here we report a case of an atypical isolated bone metastasis presenting with a fluid-fluid level revealing lung cancer in a 47-year-old patient without history of cancer. The differential diagnosis and ...
Argyri Ioanna - - 2012
Acute kidney injury (AKI) refers to the rapid loss of renal function. In clinical practice, AKI is common among hospitalized patients of all age groups including neonates and remains an important cause of morbidity and mortality due to its late diagnosis and therefore delayed therapeutic intervention. Although the precise incidence ...
- - 2012
The Level of Evidence (LOE) pyramid was missing from 2 articles in the August issue of Aesthetic Surgery Journal: "Progressive Tension Sutures in Abdominoplasty: A Review of 597 Consecutive Cases" by Todd A. Pollock and Harlan Pollock (Aesthetic Surg J 2012; 32:729-742) (Original doi: 10.1177/1090820X12452294) "Vertical Reduction Mammaplasty Utilizing the ...
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