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van Asbeck Ellyze E Department of Pediatrics, Tulane University Medical School, Hayward Genetics Center, New Orleans, Louisiana, - - 2014
Duplications on Xq28 are common, although quite variable in size, but usually include the MECP2 gene. Here, we present a patient with a unique, small, 167-kb duplication at Xq28, not including MECP2. The most important gene in the duplicated region was IKBKG, mutations in which can cause a variety of ...
Miyata Hajime - - 2013
Trisomy 18 or Edwards syndrome is known to exhibit various developmental abnormalities in the central nervous system. We report dominant uncrossed pyramidal tract in trisomy 18 syndrome, based on the postmortem neuropathologic study of eight consecutive autopsied fetuses and infants with trisomy 18 ranging in age from 16 to 39 ...
Francomano Davide - - 2013
To investigate the possible effects of testosterone undecanoate (TU) injections in a population of obese (mean age 57) hypogonadal men with lower urinary tract symptoms (LUTS) in a long-term observational study. Twenty obese hypogonadal men with metabolic syndrome were treated with TU injections every 12 weeks for 60 months; also 20 matched ...
Cantiello Francesco - - 2013
To investigate the pathological relationship between metabolic syndrome and peri-urethral fibrosis status secondary to chronic prostate inflammation. Peri-urethral prostate tissue from 80 consecutive patients who underwent retropubic radical prostatectomy for prostate cancer was analyzed. Patients were divided in two groups according to whether or not they had a diagnosis of ...
Saad Amin F - - 2013
Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are ...
Ramírez-de-la-Piscina P - - 2013
Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor of unknown origin, it has the appearance of a malignant tumor but has a benign histology and clinical course. We report a case of a 63-year-old man diagnosed of IPT of the liver and followed for 10 years. During ...
Wagenlehner F - - 2013
Aim: The prostatitis syndrome is a frequent disease affecting men in their reproductive age. The prostatitis syndrome is classified according to the National Institutes of Health (NIH) definition. Andrological implications of the prostatitis syndrome might encompass fertility issues, sexual dysfunctions and endocrinological alterations and influences. Methods: A medline query using ...
Alevizaki Maria - - 2013
Hyperparathyroidism occurs in 20-30% of MEN2A syndrome patients. It is usually associated with mild disease and is frequently asymptomatic, especially in younger age. There is genotype/phenotype association and PHP is usually associated with codon 634 mutations; however association with more "rare" mutations has also been reported. The pathology of the ...
Gupta Meenakashi - - 2013
Common variable immune deficiency (CVID) is characterized by reduced serum immune globulins and impaired or absent antibody responses. Patients become more susceptible to infections and to lymphoproliferation and granulomatous inflammation. Ophthalmic manifestations of CVID are rare. The authors describe a case of orbital follicular hyperplasia in a 15-year-old girl with ...
Kupelian Varant - - 2013
In this study we investigated the relationship between lower urinary tract symptoms as defined by the American Urological Association symptom index and the metabolic syndrome, and determined the relationship between individual symptoms comprising the American Urological Association symptom index and the metabolic syndrome. The Boston Area Community Health Survey used ...
Boukatta Brahim - - 2013
We report a case of transurethral resection of prostate (TURP) syndrome. A 78-year-old man with prostatic hypertrophy was scheduled for transurethral resection of the prostate under spinal anesthesia. 30 minutes after the end of the surgery, the patient presented signs of TURP syndrome with bradycardia, arterial hypotension, cyanosis, hypoxemia and ...
Aherne Noel J - - 2013
Holt-Oram syndrome is an autosomal dominant disorder which is caused by mutations of TBX5 and is characterised by cardiac and skeletal abnormalities. TBX5 is part of the T-box gene family and is thought to upregulate tumour cell proliferation and metastasis when mutated. We report the first clinical case of prostate ...
Ziouziou Imad - - 2012
RéSUMé: Le syndrome de levée d'obstacle est une polyurie massive faisant suite au traitement d'une insuffisance rénale obstructive. Les mécanismes physiopathologiques sont multiples : un état de surcharge hydrique qui dépend du caractère complet ou incomplet de l'obstacle, des anomalies tubulaires (atteinte de la capacité de dilution et de concentration ...
Yang Teng-Kai - - 2012
To investigate the impact of metabolic syndrome on lower urinary tract symptoms in a sample of middle-aged men receiving a health checkup. Subjects aged 45 years or older who voluntarily underwent a medical checkup were enrolled. Participant demographics and health history were collected by a self-administered questionnaire. All participants were ...
Kheterpal Emil - - 2012
OBJECTIVE: The prevalence of metabolic syndrome has been increasing worldwide, however its association with prostate cancer (CaP) is unclear. We reviewed patients undergoing robot assisted radical prostatectomy (RARP) to evaluate if those with metabolic syndrome had more aggressive disease. MATERIALS AND METHODS: A prospective database of patients undergoing RARP between ...
Watanabe Yoh - - 2012
We report 2 patients with Herlyn-Werner-Wunderlich syndrome, 1 with advanced endometrioid adenocarcinoma of the semiobstructed side of the uterine cervix and 1 with primary clear cell carcinoma of the obstructed side of the upper vagina.
Greco A - - 2013
The objective of our study was to review our current knowledge of the aetiopathogenesis of Cogan's syndrome, including viral infection and autoimmunity, and to discuss disease pathogenesis with relevance to pharmacotherapy. Relevant publications on the aetiopathogenesis and pharmacotherapy of Cogan's syndrome from 1945 to 2012 were analysed. Cogan's syndrome is ...
Tzioufas Athanasios G - - 2012
Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease mostly affecting the exocrine glands. A large number of autoantibodies have been detected in the serum of patients with pSS. Among them, anti-Ro/SSA and anti-La/SSB autoantibodies are the most common; they serve as disease markers and are involved in the pathogenesis ...
Tan T-C - - 2012
Lupus enteritis may occur as an acute presentation of systemic lupus erythematosus (SLE), and is not uncommonly associated with acute uretero-cystitis and/or hydronephrosis. Extensive involvement of the gastrointestinal tract from the stomach to the rectum in acute SLE is uncommon. We describe a 22-year-old Chinese female who presented with acute ...
Ornstein Bradley W - - 2012
PURPOSE OF REVIEW: This review summarizes the recent advances in complement biology and the evolving understanding of these contributions to the pathophysiology and treatment of predominantly pediatric disease syndromes. RECENT FINDINGS: Identification of lupus patients with complete deficiencies of one of the plasma complement proteins enabled the field to move ...
Sandhu Gagangeet - - 2012
We report the case of a 63-year-old man who presented with acute kidney injury, active urine sediment, nephrotic syndrome, and hypocomplementemia after a recent report of a sore throat. Kidney biopsy showed diffuse proliferative and exudative glomerulonephritis with C3-dominant staining by immunofluorescence. Taken together, clinical and pathologic findings were most ...
Kamalanathan Sadishkumar - - 2012
Turner's syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner's syndrome presenting with chronic kidney disease and ...
Anaya Juan-Manuel - - 2012
The multiple autoimmune syndromes (MAS) consist on the presence of three or more well-defined autoimmune diseases (ADs) in a single patient. The aim of this study was to analyze the clinical and genetic characteristics of a large series of patients with MAS. A cluster analysis and familial aggregation analysis of ...
Gauthier Hélène - - 2012
In 2011 abiraterone acetate (AA) was approved for the treatment of castrate-resistant metastatic prostate cancer patients who have failed docetaxel chemotherapy. We report the case of a patient who experienced a confirmed PSA decrease of ≤50% after stopping AA, mimicking an antiandrogen withdrawal syndrome.
Kadikoy Huseyin - - 2012
Posterior reversible encephalopathy syndrome (PRES) is characterized by acute onset of headache, nausea, focal neurological deficits or seizures along with radiological findings of white matter defects in the parietal and occipital lobes. Causes of PRES include uremia, hypertensive encephalopathy, eclampsia and immunosuppressive medications. Usually, the treat-ment of choice involves correcting ...
Kamei Atsushi - - 2012
We report a case of Aicardi-Goutières syndrome with systemic lupus erythematosus and hypothyroidism. A 3-year-old girl, diagnosed with Aicardi-Goutières syndrome at 9months, was transferred to our hospital for fever of unknown origin. Severe spasticity with dystonic posturing and flexion contracture of the limbs were noted. Interstitial pneumonia with pleural effusion ...
Yan Kunimasa - - 2012
Podocytes are terminally differentiated post-mitotic cells similar to neurons, and their damage leads to nephrotic syndrome, which is characterized by massive proteinuria associated with generalized edema. A recent functional genetic approach has identified the pathological relevance of several mutated proteins in glomerular podocytes to the mechanism of proteinuria in hereditary ...
Tsai Han-Mou - - 2012
Thrombotic microangiopathy, or the syndrome of thrombocytopenia and hemolysis with schistocytes on blood smears, has been a subject of uncertainty and intense controversy. The pathogenesis of thrombotic microangiopathy was unknown and no classification of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome was satisfactory. In recent years, a disintegrin and metalloproteinase ...
Rosenfeld Myrna R - - 2012
PURPOSE OF REVIEW:: This article provides an update on classic paraneoplastic syndromes of the CNS and autoimmune encephalitis syndromes associated with antibodies against synaptic proteins, including the NMDA receptor, LGI1, and Caspr2, among others. RECENT FINDINGS:: Most classic paraneoplastic syndromes are associated with antibodies against intracellular (onconeuronal) antigens, appear to ...
Favier Rémi - - 2012
We report a case of lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) in an 11 year old girl initially hospitalized for bleeding. The patient presented with petechia, persisting bleeding after tooth extraction performed two days before, nephritic syndrome (renal failure, proteinuria and macroscopic hematuria), severe anemia, thrombocytopenia, lymphopenia. The association of these abnormalities suggested ...
Miranda Carlos Henrique - - 2012
The antiphospholipid syndrome (APS) is an autoimmune thrombophilia, characterized by the presence of plasma antibodies against phospholipids, associated with recurrent episodes of venous and/or arterial thrombosis and gestational morbidity (especially recurrent miscarriage). We report the case of a young female patient diagnosed with systemic lupus erythematosus (SLE) associated with the ...
Forastiero Ricardo - - 2012
Antiphospholipid syndrome (APS) is an autoimmune disease characterized clinically by the occurrence of venous or arterial thrombosis, and/or pregnancy morbidity. The detection of persistently elevated levels of antiphospholipid antibodies (aPL) is a requisite laboratory feature for the diagnosis of APS. The positivity for at least one aPL test: lupus anticoagulant ...
Akbary Silvija - - 2012
ABSTRACT: Evans syndrome is a rare disease characterized by autoimmune hemolytic anemia and thrombocytopenia. Its initial presentation with intracranial hemorrhage is rare. We report a case of a 12-year-old girl who presented to the emergency department with altered mental status secondary to an intracranial hemorrhage and later diagnosed to have ...
Lazalde Brissia - - 2012
Cyclophosphamide (CPA) is an alkylating agent widely used as an immunosuppressive agent in the treatment of several autoimmune diseases, including systemic lupus erythematosus. Its teratogenic effect has been well studied in different experimental mammalian and non-mammalian animal models. In humans, 11 cases of CPA teratogenesis have been documented. We present ...
Quinn Anthony S - - 2012
The antiphospholipid syndrome (APS) is an enigmatic autoimmune disorder in which patients present with thrombosis and/or recurrent pregnancy losses together with laboratory evidence for the presence of autoantibodies in the blood that recognize proteins that bind to anionic phospholipids - the most important of which is β(2)-glycoprotein I (β(2)GPI). Earlier, ...
Kim Hyun Ju - - 2012
Fibrillary glomerulonephritis (FGN) is a rare cause of progressive renal dysfunction resulting in fibrillary deposits in the mesangium and/or glomerular basement membrane (GBM). Some case reports have shown FGN in patients with rheumatoid arthritis and other autoimmune diseases. This is the first case report of FGN in a patient with ...
Oostvogels R - - 2012
The development of immunological abnormalities in various neoplasms is a rather common phenomenon. The prevalence of life-threatening systemic vasculitis in malignancy, however, is much lower. Nonetheless we found an unexpected frequency of several autoimmune manifestations, including systemic vasculitis, in certain myelodysplastic syndromes. We illustrate this finding with the case of ...
Cartee Todd V - - 2012
Sweet syndrome (SS) is a distinctive but poorly understood clinical syndrome, which likely represents an immunologic reaction pattern to a wide range of underlying or preceding conditions, including viral illnesses, inflammatory bowel disease, and malignancies. We report the case of a patient who presented with an acute eruption that was ...
Gokce M - - 2012
Haematological involvement of systemic lupus erythematosus (SLE) - which ranges from the well-described haemolytic anaemia to macrophage activation syndrome - has a large impact on both morbidity and mortality. On the other hand, association between haematological malignities and SLE - in terms of pathophysiology and molecular genetics - is an ...
Lim Y L - - 2012
Amicrobial pustulosis associated with autoimmune disease (APAD) is a rare clinical condition, characterized by relapsing pustular eruption, affecting mainly the skin folds. Almost all previously described cases were young women with varying underlying autoimmune diseases. We report a 36-year-old woman with the interesting triad of APAD, Sjögren syndrome and IgA ...
Weiler Fernanda Guimarães - - 2012
Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed ...
Peri Yogev - - 2012
Sjögren's syndrome is a chronic autoimmune disease characterised by progressive injury to exocrine glands accompanied by diverse extra-glandular manifestations. The spectrum of Sjögren's manifestations expanded in recent years to include new symptoms and signs such as small fibre neuropathy, and also well-defined activity and prognostic indexes. Similar to other non-organ-specific ...
Meroni Pl - - 2012
Beta2 glycoprotein I (β2GPI)-dependent antiphospholipid antibodies (aPLs) are the main pathogenic autoantibody population and at the same time the laboratory diagnostic tool for the antiphospholipid syndrome (APS). These antibodies are responsible for both the vascular and the obstetric manifestations of the syndrome but the pathogenic mechanisms behind these manifestations are ...
Krishnamurthy Sriram - - 2012
An 11-year-old girl with clinical features of Kartagener syndrome presented with signs of acute glomerulonephritis. Blood urea and creatinine were mildly elevated and anti-streptolysin O and C3 levels were normal. Renal biopsy demonstrated mesangial proliferation and direct immunofluorescence showed IgM and C3 deposits. This appears to be the first report ...
Khattri Saakshi - - 2012
Primary Sjogren's syndrome is an autoimmune disease wherein there is lymphocytic infiltration of salivary and lacrimal glands. This inflammation is thought to be caused by B-lymphocytes. The most common clinical feature of Sjogren's is dryness of the mouth and eyes, but rare complications can occur such as autoimmune cytopenias. Here ...
Romei C - - 2012
Multiple endocrine neoplasia (MEN) are clinical inherited syndromes affecting different endocrine glands. Three different patterns of MEN syndromes can occur (MEN 1, MEN 2A, and MEN 2B). MEN syndromes are very rare, affect all ages and both sexes are equally affected. MEN 1 is characterized by the neoplastic transformation of ...
Murray Nigel P - - 2012
Hypernephroma can present as a variety of paraneoplastic, nonmetastatic conditions, including vasculitis, and rarely a lupus-type anticoagulant. Nephrectomy leads to the resolution of the systemic complaints. Malignancy, in this case hypernephroma, can present as an immune-mediated paraneoplastic syndrome which resolves after removal of the underlying tumor.
Demirel Ismail - - 2012
Transurethral resection of prostate (TURP) syndrome is a complication characterised by symptoms changing from an asymptomatic hyponatremic state to convulsions, coma and death due to absorption of irrigation fluid during TURP. The syndrome appears to be related to the amount of fluid that enters the circulation via the blood vessels ...
Rabbani Bahareh - - 2012
The incidence of Congenital Adrenal Hyperplasia (CAH) is 1:10,000 - 16,000 worldwide, of which 90% occurs in the CYP21A2 gene coding for steroid 21-hydroxylase. On the other hand, Turner's syndrome, with an incidence of 1:2500, is a form of gonadal dysgenesis which leads to early ovarian failure and other phenotypic ...
Samson M - - 2012
Systemic lupus erythematosus (SLE) has been described as a cause of thrombotic microangiopathy, especially thrombotic thrombocytopenic purpura (TTP). Haemolytic-uraemic syndrome (HUS) is less frequent in SLE. We report a case of such an association during an episode of severe lupus nephritis in a young woman, who was successfully treated with ...
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