Sample records for schamberg disease uncommon

  1. Recurrent purpura due to alcohol-related Schamberg's disease and its association with serum immunoglobulins: a longitudinal observation of a heavy drinker.

    PubMed

    Bonnet, Udo; Selle, Claudia; Isbruch, Katrin; Isbruch, Katrin

    2016-10-31

    It is unusual for purpura to emerge as a result of drinking alcohol. Such a peculiarity was observed in a 55-year-old man with a 30-year history of heavy alcohol use. The Caucasian patient was studied for 11 years during several detoxification treatments. During the last 2 years of that period, purpuric rashes were newly observed. The asymptomatic purpura was limited to both lower limbs, self-limiting with abstinence, and reoccurring swiftly with alcohol relapse. This sequence was observed six times, suggesting a causative role of alcohol or its metabolites. A skin biopsy revealed histological features of purpura pigmentosa progressiva (termed Schamberg's disease). Additionally, alcoholic fatty liver disease markedly elevated serum immunoglobulins (immunoglobulin A and immunoglobulin E), activated T-lymphocytes, and increased C-reactive protein. In addition, moderate combined (cellular and humoral) immunodeficiency was found. Unlike the patient's immunoglobulin A level, his serum immunoglobulin E level fell in the first days of abstinence, which corresponded to the time of purpura decline. Systemic vasculitis and clotting disorders were excluded. The benign character of the purpura was supported by missing circulating immune complexes or complement activation. An alcohol provocation test with vinegar was followed by the development of fresh "cayenne pepper" spots characteristic of Schamberg's disease. This case report demonstrates that Schamberg's disease can be strongly related to alcohol intake, in our patient most likely as a late complication of severe alcoholism with alcoholic liver disease. Immunologic disturbances thereby acquired could have constituted a basis for a hypersensitivity-like reaction after ingestion of alcohol. Schamberg's disease induction by vinegar may point to an involvement of acetate, a metabolite of ethanol.

  2. Pneumonitis in Adult Onset Still's Disease: Uncommon or Under Diagnosed?

    PubMed

    Fernandes, Silvia; Almeida, Margarida; Pereira da Silva, José Alberto; Romeu, José Carlos

    2017-08-31

    The adult onset Still's Disease is an uncommon entity characterized by multiple clinical manifestations. Pneumonitis, less often considered, deserves particular emphasis given the need for differential diagnosis and because it can progress to severe respiratory failure. With the aim to highlight the pulmonary parenchyma involvement in patients with adult onset Still's Disease, we present a case report which progresses with pneumonitis.

  3. Goodpasture’s Disease: An Uncommon Disease With an Atypical Clinical Course

    PubMed Central

    Shiferaw, Bethel; Miro, Viktor; Smith, Carroll; Akella, Jagadish; Chua, Walter; Kim, Zae

    2016-01-01

    Goodpasture’s disease is an uncommon composite of features including renal failure with pulmonary hemorrhage secondary to an autoimmune response that specifically targets these organ systems. We present a case of particular interest in regards to atypical presentation, and the uncommon treatment that the patient underwent. A 65-year-old Afghani female arrived with complaints of nausea, vomiting, loss of appetite, malaise, decreased urine output, exertional dyspnea, and cough. The patient presented initially with renal failure and unexpectedly developed respiratory failure after hemodialysis. Initial CT of thorax revealed diffuse bilateral pulmonary edema. Subsequently, the patient received a bronchoscopy demonstrating alveolar hemorrhage, which highlights a clinician’s need to maintain a differential and reassess patients. Anti-GBM antibody in the serum was detected and the renal biopsy revealed evidence of the antibody on immunofluorescence. In regards to management, the patient could only be treated with plasmapheresis as she had contraindication to initiation of immunosuppression, after which she showed significant clinical improvement. We would like to highlight the benefit of plasmapheresis without concomitant immunosuppression and recommend such an approach to be considered in similar clinical scenarios, where contraindication for immunosuppressant therapy exists. PMID:26668684

  4. Intracranial imaging of uncommon diseases is more frequently reported in clinical publications than in radiology publications.

    PubMed

    Lehman, V T; Doolittle, D A; Hunt, C H; Eckel, L J; Black, D F; Schwartz, K M; Diehn, F E

    2014-01-01

    Descriptions of uncommon diseases with intracranial imaging abnormalities are often difficult to find in the radiology literature. We hypothesized that reported imaging findings of such conditions in the recent literature were more frequent in clinical compared with radiology journals. PubMed searches from December 1, 2007 to December 1, 2012 were performed for 5 uncommon CNS diseases with intracranial imaging manifestations: 1) Susac syndrome; 2) amyloid β-related angiitis; 3) Parry-Romberg syndrome/en coup de sabre; 4) transient lesion of the splenium of the corpus callosum; and 5) reversible cerebral vasoconstriction syndrome. Articles were classified as a case report, case series, or original research. Journals were categorized as radiology or clinical. The 1- and 5-year Impact Factors of the journals were recorded. Two hundred two articles were identified for the 5 diseases, including 151 (74%) case reports, 26 case series (13%), and 25 original research articles (13%); 179 (89%) were published in nonradiology journals, compared with 23 (11%) in radiology journals. There was no significant difference between the mean 1- and 5-year Impact Factors of the radiology and clinical journals. Recent reports of the selected uncommon diseases with intracranial manifestations are more frequent in clinical journals when compared with dedicated radiology publications. Most publications are case reports. Radiologists should review both radiology and clinical journals when reviewing imaging features of uncommon diseases affecting the brain. Lack of reporting on such disease in the radiology literature may have significant practice, educational, and research implications for the radiology community.

  5. Management of uncommon disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome.

    PubMed

    Merhi, Basma; Miller, Margaret; Lanis, Aviya; Katz, Brittany; Hsu, Tiffany; Tong, Iris

    2017-09-01

    Uncommon renal disorders in pregnancy can be challenging to manage given limited evidence in the literature to guide management. We present a series of three uncommon renal disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome. Previously published case reports with differing outcomes offer some guidance to the management of these disorders in pregnancy. In this case series, we address the management of these syndromes during pregnancy and discuss the maternal and fetal outcomes. All three of our patients had good maternal and fetal outcomes, which will contribute to current data on maternal and fetal outcomes in these rare diseases, which is limited.

  6. A common presentation to an uncommon disease. Penile Mondor's disease: a case report and literature review.

    PubMed

    Walsh, John C; Poimboeuf, Sabré; Garvin, Daniel S

    2014-01-01

    Penile Mondor's disease, or superficial thrombophlebitis of the dorsal vein of the penis, is a relatively uncommon but potentially anxiety-inducing self-limiting condition that should be easily recognizable by any primary care practitioner. It typically presents with a cord-like mass and pain to the dorsal penis and has a myriad of causes, including trauma, excessive sexual activity, excessive exercise, or malignancy. Although Penile Mondor's disease is typically a clinical diagnosis, Doppler ultrasound is the initial imaging modality of choice if there is question or doubt about the diagnosis. Accurate diagnosis and reassurance about the condition's benign and self-limiting nature assuages most patients' fears. Treatment is primarily symptomatic but may vary depending on possible underlying disease processes.

  7. Scleroderma and pseudo-scleroderma: uncommon presentations.

    PubMed

    Haustein, Uwe-Frithjof

    2005-01-01

    Scleroderma is characterized by major clinical symptoms, but a number of unrelated disease may mimic these features more or less completely. Even scleroderma itself sometimes presents in an unusual manner. This article deals with uncommon presentations of true scleroderma and its variants and pseudo -scleroderma diseases.

  8. Chemiluminescence of neutrophils from patients with Behçet's disease and its correlation with an increased proportion of uncommon serotypes of Streptococcus sanguis in the oral flora.

    PubMed

    Isogai, E; Ohno, S; Kotake, S; Isogai, H; Tsurumizu, T; Fujii, N; Yokota, K; Syuto, B; Yamaguchi, M; Matsuda, H

    1990-01-01

    Zymosan-induced chemiluminescence was investigated in whole blood and in neutrophils: in both, the peak count was frequently elevated in Behçet's disease, and was significantly higher than in healthy controls; similarly the peak time was shorter. There were more uncommon serotypes of Streptococcus sanguis in the oral flora of patients with Behçet's disease. Common serotypes were present in the flora of healthy controls, but not in patients with the disease. The percentage of Strep. sanguis in the oral flora was significantly correlated with the level of chemiluminescence response. Thus infection with uncommon serotypes of Strep. sanguis may play a role in the aetiology of Behçet's disease.

  9. Inherited and Uncommon Causes of Stroke.

    PubMed

    Majersik, Jennifer Juhl

    2017-02-01

    This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke. Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia. Moyamoya disease can cause either ischemic or hemorrhagic stroke; revascularization is recommended in some patients. Cerebral amyloid angiopathy causes both microhemorrhages and macrohemorrhages, resulting in typical stroke symptoms and progressive dementia. Pregnancy raises the risk of both ischemic and hemorrhagic stroke, particularly in women with preeclampsia/eclampsia. Pregnant women are also at risk for posterior reversible encephalopathy syndrome (PRES), reversible cerebral vasoconstriction syndrome, and cerebral venous sinus thrombosis. Experts recommend that pregnant women with acute ischemic stroke not be systematically denied the potential benefits of IV recombinant tissue plasminogen activator. Neurologists should become familiar with these uncommon causes of stroke to provide future risk assessment and family counseling and to implement appropriate treatment plans to prevent recurrence.

  10. Febrile urticaria in a family: uncommon manifestation of a common disease.

    PubMed

    Sharma, Vishal; Singhal, Mayank; Sharma, Alka; Kumar, Vivek

    2012-12-15

    Cutaneous manifestations are uncommon with malaria. These include urticaria, purpura fulminans, and petechial rash. We report on a series of three patients from a single family who had an urticarial rash with fever that was subsequently diagnosed to be caused by malaria. Urticarial rash has been previously reported with both falciparum and vivax malaria infections. Although the exact pathogenesis is not clear urticarial rash might be related with IgE mediated mast cell degranulation.

  11. An uncommon clinical form of foot-and-mouth disease in beef cattle presented with cornual skin lesions.

    PubMed

    Mohebbi, M R; Barani, S M; Mahravani, H

    2017-01-01

    Foot-and-mouth disease (FMD) is a major infectious disease in livestock. The common clinical signs in cattle include epidermal vesicles that are majorly distributed around oronasal cavity, feet and teats. The aim of this report is to document an uncommon clinical form of the disease which comprises the occurrence of classic vesicular lesion in a rarely observed location of the horn vegetative tissue. During Iran's outbreak of FMD in 2013, field investigation, clinical examination and sampling from the affected herds in Qom province were performed. Specimens of mouth epithelium and horn vegetative tissue were collected for virology and histopathologic study. All the samples collected from horns were positive for foot-and-mouth disease virus (FMDV) in both enzyme linked immunosorbent assay (ELISA) and polymerase chain reaction (PCR) tests, and the strain of the virus was identified as A05. Surprisingly, all the animals with horn lesion came from beef herds, were less than 12 months old and had more severe signs of the systemic disease. Since the same strain of virus did not cause similar lesions in surrounding dairy cows, it was concluded that occurrence of horn lesions may be more associated with host factors rather than virus strain.

  12. Healthcare-associated outbreaks due to Mucorales and other uncommon fungi.

    PubMed

    Davoudi, Setareh; Graviss, Linda S; Kontoyiannis, Dimitrios P

    2015-07-01

    Healthcare-associated outbreaks of fungal infections, especially with uncommon and emerging fungi, have become more frequent in the past decade. Here, we reviewed the history and definition of healthcare-associated outbreaks of uncommon fungal infections and discussed the principles of investigating, containing and treatment of these outbreaks. In case of these uncommon diseases, occurrence of two or more cases in a short period is considered as an outbreak. Contaminated medical devices and hospital environment are the major sources of these outbreaks. Care must be taken to differentiate a real infection from colonization or contamination. Defining and identifying cases, describing epidemiologic feature of cases, finding and controlling the source of the outbreak, treating patients, and managing asymptomatic exposed patients are main steps for outbreak elimination. These fungal outbreaks are not only difficult to detect but also hard to treat. Early initiation of appropriate antifungal therapy is strongly associated with improved outcomes in infected patients. Choice of antifungal drugs should be made based on spectrum, pharmacodynamic and pharmacokinetic characteristics and adverse effects of available drugs. Combination antifungal therapy and surgical intervention may be also helpful in selected cases. A multidisciplinary approach and close collaboration between all key partners are necessary for successful control of fungal outbreaks. © 2015 Stichting European Society for Clinical Investigation Journal Foundation.

  13. [Uncommon foreign body in a nose].

    PubMed

    Alagić-Smailbegović, Jasminka; Hadzić, Edina; Sutalo, Kamenko; Resić, Mudzahid

    2007-01-01

    Foreign body in the nose most frequently occurs in childhood. It could be of various origin, pieces of toys, paper and uncommon metal body. Consequences include one- sided nasal breathing problem, nasal secretion and in some cases pain and secretion become purulent. The aim of this paper is to present uncommon foreign body in the nose. RTG diagnosis and extraction are the methods of choice.

  14. Uncommon Success: A Conversation with Brett Peiser

    ERIC Educational Resources Information Center

    Meyer, Peter

    2014-01-01

    This article introduces a conversation with Brett Peiser, named chief executive officer of "Uncommon Schools" in July of 2012, along with the principal of North Star Academy Vailsburg Middle School, a charter school in Newark, New Jersey's West Ward. There is no doubt that "Uncommon Schools" has given thousands of low-income…

  15. Uncommon localizations of hydatid cyst. Review of the literature.

    PubMed

    Salamone, G; Licari, L; Randisi, B; Falco, N; Tutino, R; Vaglica, A; Gullo, R; Porello, C; Cocorullo, G; Gulotta, G

    2016-01-01

    Hydatid disease is an endemic anthropozoonosis with usual localization in liver and lungs. Rarely it localizes in uncommon sites as spleen, skeleton, kidney, brain, cardiac muscle, peritoneum, sub cutis. Complications of uncommon localizations are the same that for usual ones. Review of the literature on rare and atypical localization of hydatid cysts in soft tissues. Key-words used on Pub-Med [(echinococ OR hydatid) AND (soft tissue OR subcutaneous OR cutaneous)] without time limit. There were found 282 articles; 242 were excluded because of muscular or bone localizations. 40 were coherent. Different variables are taken into account: age, sex, geographic area, anatomic localization of the cyst, dimension, symptoms, signs, mobility, blood exams and specific serological tests, imaging techniques for diagnosis, existing of septa in the structure, treatment, anaesthesia, spillage, neo-adjuvant and adjuvant treatment, follow-up period, recurrent lesions. It would be useful create an homogeneous and standardized collection of data of these rare and potentially life-threatening conditions in order to create guide-line of diagnostic and therapeutic process and create (or adopt) unique classification of the lesions.

  16. Status assessment of New Zealand's naturally uncommon ecosystems.

    PubMed

    Holdaway, Robert J; Wiser, Susan K; Williams, Peter A

    2012-08-01

    Globally, ecosystems are under increasing anthropogenic pressure; thus, many are at risk of elimination. This situation has led the International Union for Conservation of Nature (IUCN) to propose a quantitative approach to ecosystem-risk assessment. However, there is a need for their proposed criteria to be evaluated through practical examples spanning a diverse range of ecosystems and scales. We applied the IUCN's ecosystem red-list criteria, which are based on changes in extent of ecosystems and reductions in ecosystem processes, to New Zealand's 72 naturally uncommon ecosystems. We aimed to test the applicability of the proposed criteria to ecosystems that are naturally uncommon (i.e., those that would naturally occur over a small area in the absence of human activity) and to provide information on the probability of ecosystem elimination so that conservation priorities might be set. We also tested the hypothesis that naturally uncommon ecosystems classified as threatened on the basis of IUCN Red List criteria contain more threatened plant species than those classified as nonthreatened. We identified 18 critically endangered, 17 endangered, and 10 vulnerable ecosystems. We estimated that naturally uncommon ecosystems contained 145 (85%) of mainland New Zealand's taxonomically distinct nationally critical, nationally endangered, and nationally vulnerable plant species, 66 (46%) of which were endemic to naturally uncommon ecosystems. We estimated there was a greater number of threatened plant species (per unit area) in critically endangered ecosystems than in ecosystems classified as nonthreatened. With their high levels of endemism and rapid and relatively well-documented history of anthropogenic change, New Zealand's naturally uncommon ecosystems provide an excellent case-study for the ongoing development of international criteria for threatened ecosystems. We suggest that interactions and synergies among decline in area, decline in function, and the scale of

  17. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Choy, F.Y.M.; Wei, C.; Applegarth, D.A.

    1994-06-01

    Gaucher disease is the most frequent lysosomal lipid storage disease. It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. We have sequenced the full length cDNA of the glucocerebrosidase gene and identified an uncommon mutation in nucleotide position 1604 (genoma DNA nucleotide position 6683) from a Gaucher disease patient of Jewish-Polish-Russian descent with type 1 Gaucher disease. It is a G{yields}A transition in exon 11 that results in {sup 496}Arg{yields}{sup 496}His of glucocerebrosidase. Thismore » missense mutation is present in the heterozygous form and creates a new cleavage site for the endonuclease HphI. We have developed a simple method to detect the presence of this mutation by using HphI restriction fragment length polymorphism analysis of glucocerebrosidase genomic DNA or cDNA. The mutation in the other Gaucher allele of this patient is an A{yields}G transition at cDNA nucleotide position 1226 which creates an XhoI cleavage site after PCR mismatch amplification. The presence of this mutation was also confirmed by sequence analysis. Based on previous reports that mutation 1226 is present only in type 1 Gaucher disease and the observation that there is no neurological involvement in this patient, we conclude that our patient with the 1226/1604 genotype is diagnosed as having type 1 Gaucher disease. Since it was also postulated that mutation 1226 in the homozygous form will usually result in a good prognosis, we speculate that the orthopedic complications and the unusual presence of glomerulosclerosis in this patient may be attributable to the mutation at nucleotide 1604. This speculation will require a description of more patients with this mutation for confirmation. 32 refs., 5 figs.« less

  18. Case studies of uncommon headaches.

    PubMed

    Evans, Randolph W

    2006-05-01

    The following interesting and uncommon headache disorders are presented through case studies: exploding head syndrome, hypnic headache, neck-tongue syndrome, "Alice in Wonderland" syndrome, nummular headache, red ear syndrome, burning mouth syndrome, spontaneous intracranial hypotension syndrome, and cardiac cephalalgia.

  19. Deep brain stimulation for the treatment of uncommon tremor syndromes.

    PubMed

    Ramirez-Zamora, Adolfo; Okun, Michael S

    2016-08-01

    Deep brain stimulation (DBS) has become a standard therapy for the treatment of select cases of medication refractory essential tremor and Parkinson's disease however the effectiveness and long-term outcomes of DBS in other uncommon and complex tremor syndromes has not been well established. Traditionally, the ventralis intermedius nucleus (VIM) of the thalamus has been considered the main target for medically intractable tremors; however alternative brain regions and improvements in stereotactic techniques and hardware may soon change the horizon for treatment of complex tremors. In this article, we conducted a PubMed search using different combinations between the terms 'Uncommon tremors', 'Dystonic tremor', 'Holmes tremor' 'Midbrain tremor', 'Rubral tremor', 'Cerebellar tremor', 'outflow tremor', 'Multiple Sclerosis tremor', 'Post-traumatic tremor', 'Neuropathic tremor', and 'Deep Brain Stimulation/DBS'. Additionally, we examined and summarized the current state of evolving interventions for treatment of complex tremor syndromes. Expert commentary: Recently reported interventions for rare tremors include stimulation of the posterior subthalamic area, globus pallidus internus, ventralis oralis anterior/posterior thalamic subnuclei, and the use of dual lead stimulation in one or more of these targets. Treatment should be individualized and dictated by tremor phenomenology and associated clinical features.

  20. Deep brain stimulation for the treatment of uncommon tremor syndromes

    PubMed Central

    Ramirez-Zamora, Adolfo; Okun, Michael S.

    2016-01-01

    ABSTRACT Introduction: Deep brain stimulation (DBS) has become a standard therapy for the treatment of select cases of medication refractory essential tremor and Parkinson’s disease however the effectiveness and long-term outcomes of DBS in other uncommon and complex tremor syndromes has not been well established. Traditionally, the ventralis intermedius nucleus (VIM) of the thalamus has been considered the main target for medically intractable tremors; however alternative brain regions and improvements in stereotactic techniques and hardware may soon change the horizon for treatment of complex tremors. Areas covered: In this article, we conducted a PubMed search using different combinations between the terms ‘Uncommon tremors’, ‘Dystonic tremor’, ‘Holmes tremor’ ‘Midbrain tremor’, ‘Rubral tremor’, ‘Cerebellar tremor’, ‘outflow tremor’, ‘Multiple Sclerosis tremor’, ‘Post-traumatic tremor’, ‘Neuropathic tremor’, and ‘Deep Brain Stimulation/DBS’. Additionally, we examined and summarized the current state of evolving interventions for treatment of complex tremor syndromes. Expert c ommentary: Recently reported interventions for rare tremors include stimulation of the posterior subthalamic area, globus pallidus internus, ventralis oralis anterior/posterior thalamic subnuclei, and the use of dual lead stimulation in one or more of these targets. Treatment should be individualized and dictated by tremor phenomenology and associated clinical features. PMID:27228280

  1. High Incidence of Invasive Group A Streptococcus Disease Caused by Strains of Uncommon emm Types in Thunder Bay, Ontario, Canada

    PubMed Central

    Athey, Taryn B. T.; Teatero, Sarah; Sieswerda, Lee E.; Gubbay, Jonathan B.; Marchand-Austin, Alex; Li, Aimin; Wasserscheid, Jessica; Dewar, Ken; McGeer, Allison; Williams, David

    2015-01-01

    An outbreak of type emm59 invasive group A Streptococcus (iGAS) disease was declared in 2008 in Thunder Bay District, Northwestern Ontario, 2 years after a countrywide emm59 epidemic was recognized in Canada. Despite a declining number of emm59 infections since 2010, numerous cases of iGAS disease continue to be reported in the area. We collected clinical information on all iGAS cases recorded in Thunder Bay District from 2008 to 2013. We also emm typed and sequenced the genomes of all available strains isolated from 2011 to 2013 from iGAS infections and from severe cases of soft tissue infections. We used whole-genome sequencing data to investigate the population structure of GAS strains of the most frequently isolated emm types. We report an increased incidence of iGAS in Thunder Bay compared to the metropolitan area of Toronto/Peel and the province of Ontario. Illicit drug use, alcohol abuse, homelessness, and hepatitis C infection were underlying diseases or conditions that might have predisposed patients to iGAS disease. Most cases were caused by clonal strains of skin or generalist emm types (i.e., emm82, emm87, emm101, emm4, emm83, and emm114) uncommonly seen in other areas of the province. We observed rapid waxing and waning of emm types causing disease and their replacement by other emm types associated with the same tissue tropisms. Thus, iGAS disease in Thunder Bay District predominantly affects a select population of disadvantaged persons and is caused by clonally related strains of a few skin and generalist emm types less commonly associated with iGAS in other areas of Ontario. PMID:26491184

  2. Developing Textbook Materials in Uncommon Languages.

    ERIC Educational Resources Information Center

    Lathrop, Thomas A.

    Guidelines are offered for preparing and publishing textbook materials in Portuguese and other uncommonly taught languages. The available options for publishing Portuguese materials include two textbook publishers, three university presses, self-publication, and the Cabrilho Press, which produces language textbooks. Methods for submitting…

  3. High Incidence of Invasive Group A Streptococcus Disease Caused by Strains of Uncommon emm Types in Thunder Bay, Ontario, Canada.

    PubMed

    Athey, Taryn B T; Teatero, Sarah; Sieswerda, Lee E; Gubbay, Jonathan B; Marchand-Austin, Alex; Li, Aimin; Wasserscheid, Jessica; Dewar, Ken; McGeer, Allison; Williams, David; Fittipaldi, Nahuel

    2016-01-01

    An outbreak of type emm59 invasive group A Streptococcus (iGAS) disease was declared in 2008 in Thunder Bay District, Northwestern Ontario, 2 years after a countrywide emm59 epidemic was recognized in Canada. Despite a declining number of emm59 infections since 2010, numerous cases of iGAS disease continue to be reported in the area. We collected clinical information on all iGAS cases recorded in Thunder Bay District from 2008 to 2013. We also emm typed and sequenced the genomes of all available strains isolated from 2011 to 2013 from iGAS infections and from severe cases of soft tissue infections. We used whole-genome sequencing data to investigate the population structure of GAS strains of the most frequently isolated emm types. We report an increased incidence of iGAS in Thunder Bay compared to the metropolitan area of Toronto/Peel and the province of Ontario. Illicit drug use, alcohol abuse, homelessness, and hepatitis C infection were underlying diseases or conditions that might have predisposed patients to iGAS disease. Most cases were caused by clonal strains of skin or generalist emm types (i.e., emm82, emm87, emm101, emm4, emm83, and emm114) uncommonly seen in other areas of the province. We observed rapid waxing and waning of emm types causing disease and their replacement by other emm types associated with the same tissue tropisms. Thus, iGAS disease in Thunder Bay District predominantly affects a select population of disadvantaged persons and is caused by clonally related strains of a few skin and generalist emm types less commonly associated with iGAS in other areas of Ontario. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  4. Targeted Approaches Applied to Uncommon Diseases: A Case of Salivary Duct Carcinoma Metastatic to the Brain Treated with the Multikinase Inhibitor Neratinib

    PubMed Central

    Sorenson, Karl R.; Piovezani Ramos, Guilherme; Villasboas Bisneto, Jose Caetano; Price, Katharine

    2017-01-01

    Salivary duct carcinoma is a rare malignancy associated with hormone receptor and human epidermal growth factor receptor 2 (HER2) overexpression. Local surgical control is the cornerstone of therapy, but a subset of patients develops metastatic disease portending a poor prognosis and limited management options. Intracranial metastases are an uncommon manifestation and present a therapeutic challenge. We report the case of a 31-year-old male who presented with facial pain and swelling subsequently diagnosed with salivary duct carcinoma. Our patient underwent extensive locoregional resection and analysis of the tumor tissue demonstrated evidence of androgen receptor expression and HER2 overexpression. His course was complicated by metastatic extra- and intracranial recurrence despite combined modality treatment with radiation and chemotherapy followed by anti-HER2 monoclonal antibody therapy and androgen deprivation therapy. After exhausting standard treatment options, he received experimental therapy with a new small-molecule tyrosine kinase inhibitor, neratinib, with evidence of a transient clinical response and no significant adverse effects. This case exemplifies the potential and limitations of targeted therapy, particularly when applied to patients with rare diseases and presentations. PMID:28878657

  5. Targeted Approaches Applied to Uncommon Diseases: A Case of Salivary Duct Carcinoma Metastatic to the Brain Treated with the Multikinase Inhibitor Neratinib.

    PubMed

    Sorenson, Karl R; Piovezani Ramos, Guilherme; Villasboas Bisneto, Jose Caetano; Price, Katharine

    2017-01-01

    Salivary duct carcinoma is a rare malignancy associated with hormone receptor and human epidermal growth factor receptor 2 (HER2) overexpression. Local surgical control is the cornerstone of therapy, but a subset of patients develops metastatic disease portending a poor prognosis and limited management options. Intracranial metastases are an uncommon manifestation and present a therapeutic challenge. We report the case of a 31-year-old male who presented with facial pain and swelling subsequently diagnosed with salivary duct carcinoma. Our patient underwent extensive locoregional resection and analysis of the tumor tissue demonstrated evidence of androgen receptor expression and HER2 overexpression. His course was complicated by metastatic extra- and intracranial recurrence despite combined modality treatment with radiation and chemotherapy followed by anti-HER2 monoclonal antibody therapy and androgen deprivation therapy. After exhausting standard treatment options, he received experimental therapy with a new small-molecule tyrosine kinase inhibitor, neratinib, with evidence of a transient clinical response and no significant adverse effects. This case exemplifies the potential and limitations of targeted therapy, particularly when applied to patients with rare diseases and presentations.

  6. Uncommon opportunistic fungal infections of oral cavity: A review

    PubMed Central

    Deepa, AG; Nair, Bindu J; Sivakumar, TT; Joseph, Anna P

    2014-01-01

    The majority of opportunistic oral mucosal fungal infections are due to Candida albicans and Aspergillus fumigatus species. Mucor and Cryptococcus also have a major role in causing oral infections, whereas Geotrichum, Fusarium, Rhodotorula, Saccharomyces and Penicillium marneffei are uncommon pathogens in the oral cavity. The broad spectrum of clinical presentation includes pseudo-membranes, abscesses, ulcers, pustules and extensive tissue necrosis involving bone. This review discusses various uncommon opportunistic fungal infections affecting the oral cavity including their morphology, clinical features and diagnostic methods. PMID:25328305

  7. Mental Representation of Fractions: It All Depends on Whether They Are Common or Uncommon.

    PubMed

    Liu, Fuchang

    2017-08-13

    This study examined whether common and uncommon fractions are mentally represented differently and whether common ones are used in accessing the magnitudes of uncommon ones. In Experiments 1 and 2, college education majors, most of whom were female, Caucasian, and in their early 20s, made comparisons involving common and uncommon fractions. In Experiment 3, participants were presented with comparison tasks involving uncommon fractions and asked to describe the strategies which they used in making such comparisons. Analysis of reaction times and error rates support the hypothesis that for common fractions, it is their holistic real value, rather than their individual components, that gets represented. For uncommon fractions, the access of their magnitudes is a process of retrieving and using a known common one having a similar value. Such results suggest that the development of the cognizance of the magnitudes of fractions may be principally a matter of common ones only and that learners' handling of uncommon fractions may be greatly facilitated through instructions on matching them with common ones having a similar value.

  8. A population-specific uncommon variant in GRIN3A associated with schizophrenia.

    PubMed

    Takata, Atsushi; Iwayama, Yoshimi; Fukuo, Yasuhisa; Ikeda, Masashi; Okochi, Tomo; Maekawa, Motoko; Toyota, Tomoko; Yamada, Kazuo; Hattori, Eiji; Ohnishi, Tetsuo; Toyoshima, Manabu; Ujike, Hiroshi; Inada, Toshiya; Kunugi, Hiroshi; Ozaki, Norio; Nanko, Shinichiro; Nakamura, Kazuhiko; Mori, Norio; Kanba, Shigenobu; Iwata, Nakao; Kato, Tadafumi; Yoshikawa, Takeo

    2013-03-15

    Genome-wide association studies have successfully identified several common variants showing robust association with schizophrenia. However, individually, these variants only produce a weak effect. To identify genetic variants with larger effect sizes, increasing attention is now being paid to uncommon and rare variants. From the 1000 Genomes Project data, we selected 47 candidate single nucleotide variants (SNVs), which were: 1) uncommon (minor allele frequency < 5%); 2) Asian-specific; 3) missense, nonsense, or splice site variants predicted to be damaging; and 4) located in candidate genes for schizophrenia and bipolar disorder. We examined their association with schizophrenia, using a Japanese case-control cohort (2012 cases and 2781 control subjects). Additional meta-analysis was performed using genotyping data from independent Han-Chinese case-control (333 cases and 369 control subjects) and family samples (9 trios and 284 quads). We identified disease association of a missense variant in GRIN3A (p.R480G, rs149729514, p = .00042, odds ratio [OR] = 1.58), encoding a subunit of the N-methyl-D-aspartate type glutamate receptor, with study-wide significance (threshold p = .0012). This association was supported by meta-analysis (combined p = 3.3 × 10(-5), OR = 1.61). Nominally significant association was observed in missense variants from FAAH, DNMT1, MYO18B, and CFB, with ORs of risk alleles ranging from 1.41 to 2.35. The identified SNVs, particularly the GRIN3A R480G variant, are good candidates for further replication studies and functional evaluation. The results of this study indicate that association analyses focusing on uncommon and rare SNVs are a promising way to discover risk variants with larger effects. Copyright © 2013 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  9. Jaundice and life-threatening hemobilia: an uncommon presentation of choledochal cyst.

    PubMed

    Koh, Peng Soon; Yoong, Boon Koon; Vijayananthan, Anushya; Nawawi, Ouzreiah; Mahadeva, Sanjiv

    2013-08-01

    Hemobilia with jaundice as a result of cholestasis and bleeding from choledochal cyst is uncommon. Ascertaining the diagnosis is often challenging and delayed diagnosis can lead to significant consequences due to hemodynamic instability, particularly in elderly patients. Although surgery remains the definitive treatment modality, interventional radiology for hemostasis has been increasingly recognized as an option. In this manuscript, we described two Malaysian cases of jaundice and hemobilia associated with choledochal cysts and the challenges related with clinical diagnosis and management. © 2013 The Authors. Journal of Digestive Diseases © 2013 Wiley Publishing Asia Pty Ltd and Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine.

  10. [New exploration on clinical treatment of injuries caused by uncommon agents or in extraordinary regions].

    PubMed

    Liu, Y

    2018-05-20

    Burns caused by uncommon agents means those caused by other agents except heating power, with special characteristics existing in traumatogenesis, pathophysiology, and clinical manifestation. With the development of social economy, various new techniques and new equipments are springing up. In the practical use, improper operations would become traumatogenic agents and cause various special types of trauma. In addition, some special injuries emerged with the changes in people's lifestyle. For battle injury, some new war wounds, which are different from fire-arm injuries in the past, appeared with the emergence of acoustic wave, light wave, electrical and magnetic weapons. Extraordinary regions are those located on body surface with anatomic and physiological particularity. Injuries caused by uncommon traumatogenic agent or in extraordinary region are different from those ordinary burns and trauma, and their clinical treatments have special characteristics. Clinical treatments were studied aiming at these special characteristics, and some achievements in treatment of high-voltage electrical burn, hydrofluoric acid burn, wounds on special regions, and new types of burns and trauma have been made. However, a doctor's duty is not only to cure the diseases and save the patients' lives, but also to prevent the diseases. The suitable treatment and precautionary measures for the new types of burns and trauma that differ from ordinary burns and trauma in the past remain to be explored.

  11. Culture, Relevance, and Schooling: Exploring Uncommon Ground

    ERIC Educational Resources Information Center

    Scherff, Lisa, Ed.; Spector, Karen, Ed.

    2011-01-01

    In "Culture, Relevance, and Schooling: Exploring Uncommon Ground," Lisa Scherff, Karen Spector, and the contributing authors conceive of culturally relevant and critically minded pedagogies in terms of opening up new spatial, discursive, and/or embodied learning terrains. Readers will traverse multiple landscapes and look into a variety of spaces…

  12. Cerebellitis as an uncommon complication of infectious mononucleosis.

    PubMed

    de Fraiture, D M; Sie, T H; Boezeman, E H; Haanen, H C

    1997-08-01

    Cerebellitis is an uncommon complication of infectious mononucleosis. We describe such a patient with infectious mononucleosis and cerebellitis as a major feature of a more global encephalitis. In the discussion the cerebral complications are reviewed.

  13. Uncommon and/or bizarre features of dementia: Part III.

    PubMed

    Cipriani, Gabriele; Nuti, Angelo; Danti, Sabrina; Picchi, Lucia; Di Fiorino, Mario

    2018-06-01

    Clinical neurologists have long recognized that dementia can present as atypical or variant syndromes/symptoms. This study aimed at describing uncommon or bizarre symptoms/syndromes observed in patients suffering from dementia. Medline and Google scholar searches were conducted for relevant articles, chapters, and books published before 2018. Search terms used included compulsion, dementia, extracampine hallucination, disordered gambling, humour, and obsession. Publications found through this indexed search were reviewed for further relevant references. The uncommon/bizarre feature of dementia was described as case reports and there were no systematic investigations.

  14. Novel Occurrence of Uncommon Polyamines in Higher Plants 1

    PubMed Central

    Kuehn, Glenn D.; Rodriguez-Garay, Benjamin; Bagga, Suman; Phillips, Gregory C.

    1990-01-01

    Diamines and polyamines are ubiquitous components of living cells, and apparently are involved in numerous cellular and physiological processes. Certain “uncommon” polyamines have limited distribution in nature and have been associated primarily with organisms adapted to extreme environments, although the precise function of these polyamines in such organisms is unknown. This article summarizes current knowledge regarding the occurrence in higher plants of the uncommon polyamines related to and including norspermidine and norspermine. A putative biosynthetic pathway to account for the occurrences of these uncommon polyamines in higher plants is presented, with a summary of the supporting evidence indicating the existence of the requisite enzymatic activities in alfalfa, Medicago sativa L. PMID:16667862

  15. Ribbing disease: Uncommon cause of a common symptom

    PubMed Central

    Damle, Nishikant Avinash; Patnecha, Manish; Kumar, Praveen; Gadodia, Ankur; Subbarao, Kiran; Bal, Chandrasekhar

    2011-01-01

    Ribbing disease is a rare form of sclerosing dysplasia characterized by benign endosteal and periosteal bone growth confined to the diaphyses of the long bones, usually the tibiae and femora. It occurs after puberty and is more commonly seen in women. The most common presenting symptom is pain that is usually self-limited; however, progression is known. The etiology and optimal treatment for the disease are as yet undefined. We present here the case of a 31-year-old woman with clinical, radiological and bone scan manifestations of Ribbing disease corroborated by bone biopsy. Radiographs demonstrated cortical thickening of the diaphyses of both tibiae. 99mTc-methylene diphosphonate bone scan revealed intense irregular uptake in diaphyseal region of both tibiae. Magnetic resonance imaging showed cortical thickening with bone marrow edema in bilateral tibial diaphysis with minimal adjacent soft tissue edema. Bone biopsy revealed predominantly dense lamellar bone with irregular sized and spaced haversian systems. Serum and urine markers of bone metabolism were within normal limits. The patient was treated with analgesics, and had partial relief from pain. Medullary rimming is the next treatment option in case pain progresses. This report emphasizes the role of bone scan in the diagnosis of this rare condition. PMID:21969779

  16. Uncommon BRAF mutations in the follicular variant of thyroid papillary carcinoma: New insights.

    PubMed

    Rossi, Esther Diana; Martini, Maurizio; Bizzarro, Tommaso; Capodimonti, Sara; Cenci, Tonia; Lombardi, Celestino Pio; Pontecorvi, Alfredo; Fadda, Guido; Larocca, Luigi Maria

    2015-10-01

    Mutational analysis is reshaping the practice of fine-needle aspiration cytology for the diagnosis of thyroid nodules. The v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) valine (V) to glutamic acid (E) substitution at codon 600 (BRAF(V600E)) is the most effective diagnostic/prognostic marker and is used mainly for papillary thyroid carcinomas (PTCs). Although BRAF(V600E) represents 95% of all BRAF mutations, uncommon BRAF mutations have been identified in thyroid carcinomas. For the current study, the authors evaluated morphologic (plump pink cells and sickle-shaped nuclei) anti-BRAF(V600E) antibody (VE1) immunocytochemical and molecular findings of BRAF mutations in PTCs and in the follicular variant of PTC (FVPC). Between January 2013 and June 2014, there were 150 cytologic samples with surgical follow-up at the authors' institution. BRAF mutations, which were identified using liquid-based cytology, were classified into wild-type BRAF, BRAF(V600E), and uncommon BRAF mutations. All clinicopathologic correlations between BRAF and FVPCs were analyzed. Forty-four of 150 samples were identified as benign histologic lesions, and the authors focused on the 106 cytologic samples from patients who had malignant outcomes (60 PTCs and 46 FVPCs). The series included 16 follicular neoplasms, 36 samples diagnosed as suspicious of malignancy, and 54 samples diagnosed as positive for malignancy. The BRAF(V600E) mutation was detected in 17.4% of FVPCs and in 66.6% of PTCs, whereas uncommon BRAF mutations were detected only in FVPCs. Plump pink cells and VE1 expression were not identified in samples that had uncommon BRAF mutations. VE1 immunocytochemistry yielded positive results in all 36 samples that had the BRAF(V600E) mutation. Uncommon BRAF mutations were observed only in FVPCs and were linked to less aggressive behavior. Negative/weak VE1 expression was observed in both wild-type and uncommon BRAF mutations. The current investigation did not reveal any plump cells or

  17. European and German food legislation facing uncommon foodstuffs.

    PubMed

    Grabowski, Nils Th; Klein, Günter; López, Antonio Martínez

    2013-01-01

    In Europe, uncommon foodstuff (UFS, i.e., traditional foods from specific European regions and uncommon ethnic foods from non-EU countries) have been contributing to a diversification of the food supply. E-commerce and specialized retail shops are the main sources for UFS. This article discusses the legal bases for UFS introduction and evaluation. By means of 35 representative UFS, this article analyses the possibilities of trade and veterinary inspection of these products in Germany, comparing European Union and national food legislation with the many idiosyncrasies the UFS presents. Conservatory legislation bans the trade with endangered species (primates, cetaceans, songbirds), but for many other species, this is a complex matter that may ban only subpopulations from trade. Although introduction of legal UFS is regulated (yet complicated), the lack of appropriate definitions, intra-European trade harmonization, and of sufficient scientific knowledge hampers a satisfactory evaluation of many UFSs, for example, reptile meat or terrestrial insects. In these cases, official inspection would only be very basic.

  18. Systemic lupus erythematosus pancreatitis: an uncommon presentation of a common disease.

    PubMed

    Rodriguez, Eduardo A; Sussman, Daniel A; Rodriguez, Vanessa R

    2014-11-17

    Acute pancreatitis is uncommon in systemic lupus erythematosus (SLE). When recognized early and properly treated with IV steroids and hydration, the course may be benign, as exemplified in the following report. A 21-year-old woman with history of SLE and stage IV lupus nephritis, was admitted to the Sergio Bernales Hospital ICU (Lima, Peru), complaining of worsening epigastric pain radiating to the back, and nausea and vomiting for 1 week. She denied prior cholelithiasis, alcohol use, or recent medication changes. On examination, she was tachycardic and normotensive, with a slightly distended abdomen and epigastric tenderness on deep palpation, without signs of peritoneal irritation. Laboratory results demonstrated leukocytosis without left shift, creatinine of 2.26 mg/dL, amylase of 750 U/L, and lipase of 1038 U/L. Liver chemistries, calcium, lactic acid, triglycerides, and IgG4 were normal and alcohol level was undetectable. Ultrasound did not show cholelithiasis, biliary sludge, or common bile duct dilation. CT of the abdomen showed pancreas head (parenchyma) stranding with uniform enhancement consistent with interstitial pancreatitis. Despite receiving IV fluids, opiates, anti-emetics, and nothing by mouth, her clinical condition deteriorated, prompting the use of IV methylprednisolone. After completing 1 week of IV steroids, she was transferred to the medical floor clinically improved. The patient was discharged with an oral steroid taper and complete resolution of symptoms. After ruling out common causes, such as hepatobiliary pathology or toxin-related insults like alcohol, hypercalcemia, hypertriglyceridemia or medications, steroids may be used in SLE pancreatitis because they might improve the overall prognosis.

  19. Fulminant infection by uncommon organisms in animal bite wounds.

    PubMed

    Dutta, J K

    1998-10-01

    In 1995 and 1996, 215 patients exposed to different species of animals were treated at the Amarnath Polyclinic, Balasore, in India. Among them were two children infected by uncommon organisms, i.e., Capnocytophaga canimorsus and Pasteurella multocida; the patients recovered with appropriate antibiotic therapy.

  20. Pleural mesothelioma: Case-report of uncommon occupational asbestos exposure in a small furniture industry.

    PubMed

    Oddone, Enrico; Imbriani, Marcello

    2016-01-01

    The relationship between asbestos exposure and malignant mesothelioma is no longer disputed, although it is not always easy to trace past occupational exposure. This report describes a case of uncommon asbestos exposure of a small furniture industry worker, who subsequently died of pleural malignant mesothelioma, to stress the crucial importance of a full reconstruction of the occupational history, both for legal and compensation purposes. Sarcomatoid pleural mesothelioma was diagnosed in a 70-year-old man, who was previously employed as a carpenter in a small furniture industry. He worked for about 6 years in the small factory, was exposed to asbestos during the assembly of the furniture inspired by classical architecture, in which asbestos cement tubes were used to reproduce classical columns. During this production process no specific work safety measures were applied, nor masks or local aspirators. No extra-professional exposure to asbestos was identified. This mesothelioma case was investigated by the Public Prosecutor's assignment that commissioned expert evidence on the legal accountability for the disease. Despite its uncommon expositive circumstance, the length of latency (about 30 years), the duration of exposure, the clinical and histochemical features are all consistent with literature evidence, accounting for the occupational origin of this malignancy. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

  1. Fulminant infection by uncommon organisms in animal bite wounds.

    PubMed Central

    Dutta, J. K.

    1998-01-01

    In 1995 and 1996, 215 patients exposed to different species of animals were treated at the Amarnath Polyclinic, Balasore, in India. Among them were two children infected by uncommon organisms, i.e., Capnocytophaga canimorsus and Pasteurella multocida; the patients recovered with appropriate antibiotic therapy. PMID:10211359

  2. Systemic Lupus Erythematosus Pancreatitis: An Uncommon Presentation of a Common Disease

    PubMed Central

    Rodriguez, Eduardo A.; Sussman, Daniel A.; Rodriguez, Vanessa R.

    2014-01-01

    Patient: Female, 21 Final Diagnosis: Systemic lupus erythematosus pancreatitis Symptoms: Abdominal pain Medication: — Clinical Procedure: — Specialty: Gastroenterology and Hepatology Objective: Challenging differential diagnosis Background: Acute pancreatitis is uncommon in systemic lupus erythematosus (SLE). When recognized early and properly treated with IV steroids and hydration, the course may be benign, as exemplified in the following report. Case Report: A 21-year-old woman with history of SLE and stage IV lupus nephritis, was admitted to the Sergio Bernales Hospital ICU (Lima, Peru), complaining of worsening epigastric pain radiating to the back, and nausea and vomiting for 1 week. She denied prior cholelithiasis, alcohol use, or recent medication changes. On examination, she was tachycardic and normotensive, with a slightly distended abdomen and epigastric tenderness on deep palpation, without signs of peritoneal irritation. Laboratory results demonstrated leukocytosis without left shift, creatinine of 2.26 mg/dL, amylase of 750 U/L, and lipase of 1038 U/L. Liver chemistries, calcium, lactic acid, triglycerides, and IgG4 were normal and alcohol level was undetectable. Ultrasound did not show cholelithiasis, biliary sludge, or common bile duct dilation. CT of the abdomen showed pancreas head (parenchyma) stranding with uniform enhancement consistent with interstitial pancreatitis. Despite receiving IV fluids, opiates, anti-emetics, and nothing by mouth, her clinical condition deteriorated, prompting the use of IV methylprednisolone. After completing 1 week of IV steroids, she was transferred to the medical floor clinically improved. The patient was discharged with an oral steroid taper and complete resolution of symptoms. Conclusions: After ruling out common causes, such as hepatobiliary pathology or toxin-related insults like alcohol, hypercalcemia, hypertriglyceridemia or medications, steroids may be used in SLE pancreatitis because they might improve

  3. Identification of uncommon oral yeasts from cancer patients by MALDI-TOF mass spectrometry.

    PubMed

    Aslani, Narges; Janbabaei, Ghasem; Abastabar, Mahdi; Meis, Jacques F; Babaeian, Mahasti; Khodavaisy, Sadegh; Boekhout, Teun; Badali, Hamid

    2018-01-08

    Opportunistic infections due to Candida species occur frequently in cancer patients because of their inherent immunosuppression. The aim of the present study was to investigate the epidemiology of yeast species from the oral cavity of patients during treatment for oncological and haematological malignancies. MALDI-TOF was performed to identify yeasts isolated from the oral cavity of 350 cancer patients. Moreover, antifungal susceptibility testing was performed in according to CLSI guidelines (M27-A3). Among 162 yeasts and yeast-like fungi isolated from the oral cavity of cancer patients, Candida albicans was the most common species (50.6%), followed by Candida glabrata (24.7%), Pichia kudriavzevii (Candida krusei (9.9%)), Candida tropicalis (4.3%), Candida dubliniensis (3.7%), Kluyveromyces marxianus (Candida kefyr (3.7%)) and Candida parapsilosis (1%). In addition, uncommon yeast species i.e., Saprochaete capitata, Saccharomyces cerevisiae, Clavispora lusitaniae (C. lusitaniae) and Pichia kluyveri (C. eremophila) were recovered from oral lesions. Oral colonization by C. albicans, non-albicans Candida species and uncommon yeasts were as follow; 55%, 44% and 1%, whereas oral infection due to C. albicans was 33.3%, non-albicans Candida species 60.6%, and uncommon yeasts 6.1%. Poor oral hygiene and xerostomia were identified as independent risk factors associated with oral yeast colonization. The overall resistance to fluconazole was 11.7% (19/162). Low MIC values were observed for anidulafungin for all Candida and uncommon yeast species. This current study provides insight into the prevalence and susceptibility profiles of Candida species, including emerging Candida species and uncommon yeasts, isolated from the oral cavity of Iranian cancer patients. The incidence of oral candidiasis was higher amongst patients with hematological malignancies. The majority of oral infections were caused by non-albicans Candida species which were often more resistant to anti

  4. Catalog of Uncommon Facilities in Western Colleges and Universities.

    ERIC Educational Resources Information Center

    Viehland, Dennis, Comp.

    A list of rare, and often unique, facilities in the western part of the United States is presented that is designed to serve as a resource for researchers. The list of facilities is a guide to what uncommon equipment, centers or institutes, and collections are available at western higher education facilities and what provisions exist for sharing…

  5. Uncommon Presentation of Triploidy: A Case Report

    PubMed Central

    Pata, Özlem; Unlu, Cihat; Tokat, Fatma; Ozdemir, Mucize

    2015-01-01

    A 28-year-old woman presented in her first pregnancy was admitted with severe hyperemesis gravidarium. Increased nuchal translucency with cardiac anomaly and omphalocele at the first trimester was observed at the ultrasound examination. Chorionic villus biopsy confirmed triploidy. The combination of type I and type II triploidy patterns were seen together in the second trimester of the pregnancy. Although the symptoms due to increased human chorionic levels occured, at the pathologic investigation there were no molar changes in the placenta. Here we report a case of uncommon presentation of triploidy. PMID:26557571

  6. Uncommon presentations of tinea versicolor

    PubMed Central

    Varada, Sowmya; Dabade, Tushar; Loo, Daniel S.

    2014-01-01

    Tinea versicolor (TV) is a common cutaneous fungal infection characterized by superficial scaling and a mild disturbance of skin pigmentation. It typically affects the chest, upper back, and shoulders. However, involvement of more unusual regions of the body such as the face and scalp, arms and legs, intertriginous sites, genitalia, areolae, and palms and soles has been reported. This report details two such cases observed at our institution: a 32-year-old woman with involvement of the popliteal fossa and a 16-year-old boy with involvement of the groin. The clinician must be aware of these variations in location and perform the appropriate diagnostic workup when lesions have the characteristic morphology of TV despite an unusual location. The etiology, pathophysiology, and epidemiology of TV are reviewed and current literature describing other instances of TV in uncommon locations is discussed. PMID:25126470

  7. Erdheim-Chester disease: an uncommon cause of upper urinary tract obstruction.

    PubMed

    Tsu, J H L; Yuen, S K; Cheung, H; Lee, Y W; Liu, P L

    2013-10-01

    Erdheim-Chester disease is a rare non-Langerhans form of systemic histiocytosis of unknown origin. We describe a 45-year-old man presenting with bilateral hydronephrosis suggestive of extrinsic urinary tract obstruction. Computed tomography revealed extensive hypodense soft tissue infiltration in the retroperitoneum surrounding the kidneys. Needle biopsy of the retroperitoneal soft tissue revealed aggregates of lipid-laden histiocytes expressing CD68 but negative for CD1a and S100 protein. The diagnosis of Erdheim-Chester disease was supported by typical radionuclide bone scinitigraphic findings. Treatment with prednisolone, sirolimus, and regular ureteric stent revision was initiated to achieve adequate urinary tract drainage. To our knowledge, this is the second patient with Erdheim-Chester disease reported in Hong Kong. A high index of suspicion is required to avoid delay in the diagnosis of this rare disease.

  8. Advocacy: Emphasizing the Uncommon about the Common Core State Standards

    ERIC Educational Resources Information Center

    Kaplan, Sandra N.

    2014-01-01

    The author describes key issues and uncommon concerns about the Common Core State Standards that fit within two categories: philosophical and pedagogical. Philosophically, Common Core State K-12 Standards should not be expected to be mastered at a specific grade level but based on developmental readiness. Pedagogically, Common Core State Standards…

  9. Dislocation of temporo-mandibular joint - an uncommon circumstance of occurrence: vaginal delivery.

    PubMed

    El Bouazzaoui, Abderrahim; Labib, Smael; Derkaoui, Ali; Adnane Berdai, Mohammed; Bendadi, Azzeddine; Harandou, Mustapha

    2010-06-25

    Dislocation of temporo-mandibular joint (TMJ) is an infrequent disease but still spectacular. This disease consists of a permanent, to some extent complete disruption of the temporo-mandibular joint. These dislocations often occur in a context of yawning, and less frequently after a burst of laughing or relatively mild facial trauma (slap, punch on the chin). We report a case of TMJ occurring in an uncommon circumstance: vaginal delivery. A woman aged 24-years with no special past medical history; primipara was admitted in the Department of Maternity of the University Hospital Hassan II of Fez for an imminent delivery of a twin pregnancy. Ten minutes after admission, the patient delivered vaginally with episiotomy. She gave birth to twins weighing 2800 g and 2400 g. During labour, and due to efforts of crying, the patient developed a sudden and immediate loss of function of the temporo-mandibular joint, with difficulty of speaking, the mouth permanently opened and with the chin lowered and thrown forward. The examination found an empty glenoid fossa of the temporo-mandibular joint in both sides. The diagnosis of dislocation of the TMJ was established. A CT scan of facial bones was done, objectifying a bilateral dislocation of TMJ. The reduction of this dislocation was performed in the operating room under sedation.

  10. [Uncommon non-fermenting Gram-negative rods as pathogens of lower respiratory tract infection].

    PubMed

    Juhász, Emese; Iván, Miklós; Pongrácz, Júlia; Kristóf, Katalin

    2018-01-01

    Glucose non-fermenting Gram-negative bacteria are ubiquitous environmental organisms. Most of them are identified as opportunistic, nosocomial pathogens in patients. Uncommon species are identified accurately, mainly due to the introduction of matrix-assisted laser desorption-ionization time of flight mass spectrometry (MALDI-TOF MS) in clinical microbiology practice. Most of these uncommon non-fermenting rods are isolated from lower respiratory tract samples. Their significance in lower respiratory tract infections, such as rules of their testing are not clarified yet. The aim of this study was to review the clinical microbiological features of these bacteria, especially their roles in lower respiratory tract infections and antibiotic treatment options. Lower respiratory tract samples of 3589 patients collected in a four-year period (2013-2016) were analyzed retrospectively at Semmelweis University (Budapest, Hungary). Identification of bacteria was performed by MALDI-TOF MS, the antibiotic susceptibility was tested by disk diffusion method. Stenotrophomonas maltophilia was revealed to be the second, whereas Acinetobacter baumannii the third most common non-fermenting rod in lower respiratory tract samples, behind the most common Pseudomonas aeruginosa. The total number of uncommon non-fermenting Gram-negative isolates was 742. Twenty-three percent of isolates were Achromobacter xylosoxidans. Beside Chryseobacterium, Rhizobium, Delftia, Elizabethkingia, Ralstonia and Ochrobactrum species, and few other uncommon species were identified among our isolates. The accurate identification of this species is obligatory, while most of them show intrinsic resistance to aminoglycosides. Resistance to ceftazidime, cefepime, piperacillin-tazobactam and carbapenems was frequently observed also. Ciprofloxacin, levofloxacin and trimethoprim-sulfamethoxazole were found to be the most effective antibiotic agents. Orv Hetil. 2018; 159(1): 23-30.

  11. Solar elastosis in its papular form: uncommon, mistakable.

    PubMed

    Heng, Jun Khee; Aw, Derrick Chen Wee; Tan, Kong Bing

    2014-01-01

    Solar elastosis is a degenerative condition of elastic tissue in the dermis due to prolonged sun exposure. There are a variety of clinical manifestations of solar elastosis. In its most common form, solar elastosis manifests as yellow, thickened, coarsely wrinkled skin. We report two uncommon cases of severe solar elastosis with a papular morphology. Its presentation can closely mimic a host of cutaneous disorders and thus, although it is helpful to be cognizant of this entity, it is still crucial to biopsy these lesions to avoid missing a more sinister condition.

  12. Common and uncommon pathogenic cascades in lysosomal storage diseases.

    PubMed

    Vitner, Einat B; Platt, Frances M; Futerman, Anthony H

    2010-07-02

    Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the defective activity of lysosomal proteins, resulting in accumulation of unmetabolized substrates. As a result, a variety of pathogenic cascades are activated such as altered calcium homeostasis, oxidative stress, inflammation, altered lipid trafficking, autophagy, endoplasmic reticulum stress, and autoimmune responses. Some of these pathways are common to many LSDs, whereas others are only altered in a subset of LSDs. We now review how these cascades impact upon LSD pathology and suggest how intervention in the pathways may lead to novel therapeutic approaches.

  13. Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 2-Uncommon Sarcomas.

    PubMed

    Levy, Angela D; Manning, Maria A; Miettinen, Markku M

    2017-01-01

    Soft-tissue sarcomas occurring in the abdomen and pelvis are an uncommon but important group of malignancies. Recent changes to the World Health Organization classification of soft-tissue tumors include the movement of gastrointestinal stromal tumors (GISTs) into the soft-tissue tumor classification. GIST is the most common intraperitoneal sarcoma. Liposarcoma is the most common retroperitoneal sarcoma, and leiomyosarcoma is the second most common. GIST, liposarcoma, and leiomyosarcoma account for the majority of sarcomas encountered in the abdomen and pelvis and are discussed in part 1 of this article. Undifferentiated pleomorphic sarcoma (previously called malignant fibrous histiocytoma), dermatofibrosarcoma protuberans, solitary fibrous tumor, malignant peripheral nerve sheath tumor, rhabdomyosarcoma, extraskeletal chondro-osseous sarcomas, vascular sarcomas, and sarcomas of uncertain differentiation uncommonly arise in the abdomen and pelvis and the abdominal wall. Although these lesions are rare sarcomas and their imaging features overlap, familiarity with the locations where they occur and their imaging features is important so they can be diagnosed accurately. The anatomic location and clinical history are important factors in the differential diagnosis of these lesions because metastasis, more-common sarcomas, borderline fibroblastic proliferations (such as desmoid tumors), and endometriosis have imaging findings that overlap with those of these uncommon sarcomas. In this article, the clinical, pathologic, and imaging findings of uncommon soft-tissue sarcomas of the abdomen and pelvis and the abdominal wall are reviewed, with an emphasis on their differential diagnosis.

  14. Deep brain stimulation in uncommon tremor disorders: indications, targets, and programming.

    PubMed

    Artusi, Carlo Alberto; Farooqi, Ashar; Romagnolo, Alberto; Marsili, Luca; Balestrino, Roberta; Sokol, Leonard L; Wang, Lily L; Zibetti, Maurizio; Duker, Andrew P; Mandybur, George T; Lopiano, Leonardo; Merola, Aristide

    2018-03-06

    In uncommon tremor disorders, clinical efficacy and optimal anatomical targets for deep brain stimulation (DBS) remain inadequately studied and insufficiently quantified. We performed a systematic review of PubMed.gov and ClinicalTrials.gov. Relevant articles were identified using the following keywords: "tremor", "Holmes tremor", "orthostatic tremor", "multiple sclerosis", "multiple sclerosis tremor", "neuropathy", "neuropathic tremor", "fragile X-associated tremor/ataxia syndrome", and "fragile X." We identified a total of 263 cases treated with DBS for uncommon tremor disorders. Of these, 44 had Holmes tremor (HT), 18 orthostatic tremor (OT), 177 multiple sclerosis (MS)-associated tremor, 14 neuropathy-associated tremor, and 10 fragile X-associated tremor/ataxia syndrome (FXTAS). DBS resulted in favorable, albeit partial, clinical improvements in HT cases receiving Vim-DBS alone or in combination with additional targets. A sustained improvement was reported in OT cases treated with bilateral Vim-DBS, while the two cases treated with unilateral Vim-DBS demonstrated only a transient effect. MS-associated tremor responded to dual-target Vim-/VO-DBS, but the inability to account for the progression of MS-associated disability impeded the assessment of its long-term clinical efficacy. Neuropathy-associated tremor substantially improved with Vim-DBS. In FXTAS patients, while Vim-DBS was effective in improving tremor, equivocal results were observed in those with ataxia. DBS of select targets may represent an effective therapeutic strategy for uncommon tremor disorders, although the level of evidence is currently in its incipient form and based on single cases or limited case series. An international registry is, therefore, warranted to clarify selection criteria, long-term results, and optimal surgical targets.

  15. Differential Tuning of Ventral and Dorsal Streams during the Generation of Common and Uncommon Tool Uses.

    PubMed

    Matheson, Heath E; Buxbaum, Laurel J; Thompson-Schill, Sharon L

    2017-11-01

    Our use of tools is situated in different contexts. Prior evidence suggests that diverse regions within the ventral and dorsal streams represent information supporting common tool use. However, given the flexibility of object concepts, these regions may be tuned to different types of information when generating novel or uncommon uses of tools. To investigate this, we collected fMRI data from participants who reported common or uncommon tool uses in response to visually presented familiar objects. We performed a pattern dissimilarity analysis in which we correlated cortical patterns with behavioral measures of visual, action, and category information. The results showed that evoked cortical patterns within the dorsal tool use network reflected action and visual information to a greater extent in the uncommon use group, whereas evoked neural patterns within the ventral tool use network reflected categorical information more strongly in the common use group. These results reveal the flexibility of cortical representations of tool use and the situated nature of cortical representations more generally.

  16. Persistent untreated Riga-Fede disease for 6 years.

    PubMed

    Ozmen, Bilal; Acar, Ozge

    2015-01-01

    Riga-Fede disease is an uncommon, benign, ulcerative condition due to dental trauma that can occur at any age. A 9-year-old boy with a painful tongue is presented. Physicians need to recognize Riga-Fede disease and Riga-Fede-like disease to intervene early. © 2015 Wiley Periodicals, Inc.

  17. Crohns disease: a case report.

    PubMed

    Adi, Ashindoitiang John; Lloyd, Geoffrey J

    2010-01-01

    Inflammatory bowel disease (IBD) was previously regarded as a disease of the Western Countries. A number of studies showed a high incidence and prevalence of inflammatory bowel disease in United States, United Kingdom and Northern Europe, whereas it was considered uncommon in Asians population and rare in Africa. To report case of crohns disease that is rare in the tropic like Nigeria so as to create a high index of awareness that inflammatory bowel disease may be present but not correctly diagnosed

  18. Uncommon acute neurologic presentation of canine distemper in 4 adult dogs.

    PubMed

    Galán, Alba; Gamito, Araceli; Carletti, Beatrice E; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M

    2014-04-01

    Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination.

  19. A SURVEY OF INTENSIVE PROGRAMS IN THE UNCOMMON LANGUAGES, SUMMER 1962.

    ERIC Educational Resources Information Center

    HOENIGSWALD, HENRY M.; AND OTHERS

    THIS REPORT ON INTENSIVE COURSES IN THE UNCOMMON LANGUAGES CONDUCTED AT 22 AMERICAN COLLEGES AND UNIVERSITIES DURING THE SUMMER OF 1962 IS THE RESULT OF A SURVEY UNDERTAKEN BY H.M. HOENIGSWALD OF THE UNIVERSITY OF PENNSYLVANIA, R.B. NOSS OF THE FOREIGN SERVICE INSTITUTE, AND E.N. MCCARUS AND J.K. YAMAGIWA OF THE UNIVERSITY OF MICHIGAN. (BY…

  20. Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 2—Uncommon Sarcomas

    PubMed Central

    Manning, Maria A.; Miettinen, Markku M.

    2017-01-01

    Soft-tissue sarcomas occurring in the abdomen and pelvis are an uncommon but important group of malignancies. Recent changes to the World Health Organization classification of soft-tissue tumors include the movement of gastrointestinal stromal tumors (GISTs) into the soft-tissue tumor classification. GIST is the most common intraperitoneal sarcoma. Liposarcoma is the most common retroperitoneal sarcoma, and leiomyosarcoma is the second most common. GIST, liposarcoma, and leiomyosarcoma account for the majority of sarcomas encountered in the abdomen and pelvis and are discussed in part 1 of this article. Undifferentiated pleomorphic sarcoma (previously called malignant fibrous histiocytoma), dermatofibrosarcoma protuberans, solitary fibrous tumor, malignant peripheral nerve sheath tumor, rhabdomyosarcoma, extraskeletal chondro-osseous sarcomas, vascular sarcomas, and sarcomas of uncertain differentiation uncommonly arise in the abdomen and pelvis and the abdominal wall. Although these lesions are rare sarcomas and their imaging features overlap, familiarity with the locations where they occur and their imaging features is important so they can be diagnosed accurately. The anatomic location and clinical history are important factors in the differential diagnosis of these lesions because metastasis, more-common sarcomas, borderline fibroblastic proliferations (such as desmoid tumors), and endometriosis have imaging findings that overlap with those of these uncommon sarcomas. In this article, the clinical, pathologic, and imaging findings of uncommon soft-tissue sarcomas of the abdomen and pelvis and the abdominal wall are reviewed, with an emphasis on their differential diagnosis. PMID:28493803

  1. Moral identity and the experience of moral elevation in response to acts of uncommon goodness.

    PubMed

    Aquino, Karl; McFerran, Brent; Laven, Marjorie

    2011-04-01

    Four studies using survey and experimental designs examined whether people whose moral identity is highly self-defining are more susceptible to experiencing a state of moral elevation after being exposed to acts of uncommon moral goodness. Moral elevation consists of a suite of responses that motivate prosocial action tendencies. Study 1 showed that people higher (vs. lower) in moral identity centrality reported experiencing more intense elevating emotions, had more positive views of humanity, and were more desirous of becoming a better person after reading about an act of uncommon goodness than about a merely positive situation or an act of common benevolence. Study 2 showed that those high in moral identity centrality were more likely to recall acts of moral goodness and experience moral elevation in response to such events more strongly. These experiences were positively related to self-reported prosocial behavior. Study 3 showed a direct effect on behavior using manipulated, rather than measured, moral identity centrality. Study 4 replicated the effect of moral identity on the states of elevation as well as on self-reported physical sensations and showed that the elevation mediates the relationship between moral identity, witnessing uncommon goodness, and prosocial behavior.

  2. Distribution Patterns of Ohio Stoneflies, with an Emphasis on Rare and Uncommon Species

    PubMed Central

    Grubbs, Scott A.; Pessimo, Massimo; DeWalt, R. Edward

    2013-01-01

    Presently, 102 stonefly species (Plecoptera) have been reported from Ohio. All 9 Nearctic families are represented. Over 90% of the fauna exhibit a combination of broad Nearctic-widespread, eastern Nearctic-widespread, Appalachian, and eastern Nearctic-unglaciated distributions. In contrast, only 2 species display a central Nearctic-Prairie distribution. Seven species of Perlidae are likely no longer present (Acroneuria evoluta Klapálek, A. perplexa Frison, Attaneuria ruralis (Hagen), and Neoperla mainensis Banks) or have experienced marked range reductions (Acroneuria abnormis (Newman), A. frisoni Stark and Brown, and A. filicis Frison). Another nearly 31% of the fauna (32 species) are rare, uncommon, or have highly-limited distributions within the state. Twelve of these species have Appalachian distributions, and an additional 8 have eastern Nearctic-unglaciated distributions. The distributional status for each of the 32 rare/uncommon species is discussed. PMID:24219390

  3. [HIV-associated myelopathy: an uncommon indicator of AIDS].

    PubMed

    Konaté, A; Ceballos, P; Rivière, S; Faucherre, V; Ciurana, A J; Le Quellec, A

    2001-10-01

    Spinal cord lesions are an uncommon mode of discovering acquired immunodeficiency syndrome because they usually appear at a later stage. We report a 58-year-old patient who had a spastic paraparesia and sphincter dysfunction. The spinal cord magnetic resonance imaging showed spontaneous hypersignals on T2-weighted images at the cervical and thoracic levels, enhanced with gadolinium, and without swelling. No cause was found. The HIV serology was positive and allowed us to consider an HIV-associated myelopathy. The antiretroviral therapy led to functional recovery. An HIV serology is suggested whenever an unexplained intramedullary lesion is discovered. Indeed, the diagnosis of HIV-associated myelopathy implies a specific therapeutic approach.

  4. Cushing syndrome: maybe not so uncommon of an endocrine disease.

    PubMed

    Guaraldi, Federica; Salvatori, Roberto

    2012-01-01

    Cushing syndrome (CS) is the result of extended exposure to excessive glucocorticoids from endogenous or exogenous sources. Traditionally, the most common cause of endogenous CS is a pituitary adenoma (Cushing disease). Less common causes are adrenocortical tumors and extrapituitary adrenocorticotropin-producing neoplasias. This review provides updated information regarding the potential for increased prevalence of CS in specific patient populations. Here the authors provide to family physicians clinical guidance for recognition of CS by presenting a case, discussing the advantages/disadvantages of the diagnostic tests, and discussing information about the treatment options. CS is expected to have an incidence of 10 to 15 people per million; however, studies of patients with diabetes, obesity, hypertension, and osteoporosis found a high prevalence of CS among these populations. The clinical manifestations of CS range from the distinctive clinical features (purple striae, facial plethora, proximal myopathy) to common conditions such as hypertension, obesity, and diabetes. Clinical practice guidelines recommend biochemical tests to screen patients for CS; however, the sensitivity and specificity of these tests vary, so a careful analysis must be performed to avoid misdiagnosis. CS is challenging to diagnose. Nevertheless, with a systematic approach to testing patients and an increased awareness of the high-risk patient populations, the disease can be identified in a timely manner.

  5. Uncommon acute neurologic presentation of canine distemper in 4 adult dogs

    PubMed Central

    Galán, Alba; Gamito, Araceli; Carletti, Beatrice E.; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M.

    2014-01-01

    Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination. PMID:24688139

  6. Chronic granulomatous disease mimicking early-onset Crohn's disease with cutaneous manifestations.

    PubMed

    Barbato, Maria; Ragusa, Giovanni; Civitelli, Fortunata; Marcheggiano, Adriana; Di Nardo, Giovanni; Iacobini, Metello; Melengu, Taulant; Cucchiara, Salvatore; Duse, Marzia

    2014-06-20

    Chronic granulomatous disease is a rare inherited disorder of the innate immune system. In patients with a clinical history of recurrent or persistent infections, especially infections caused by uncommon species, chronic granulomatous disease should be considered. We report the case of a 5-year-old boy with a presumptive diagnosis of Crohn's disease with extraintestinal manifestations. Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed. This case emphasizes the importance of high clinical suspicion of an alternative diagnosis of immune deficiency in patients with presumed inflammatory bowel disease and opportunistic infections, especially when disease occurs in early life.

  7. Tinnitus in children: an uncommon symptom?

    PubMed

    Shetye, A; Kennedy, V

    2010-08-01

    Tinnitus in children is regarded as an uncommon problem rarely noted by general paediatricians. Its reported prevalence varies from 12% to 36% in children with normal hearing thresholds and up to 66% in children with hearing loss and approximately 3-10% of children have been reported troubled by tinnitus. Some children do not spontaneously complain of it, but may demonstrate behavioural problems at school and home. A careful history, in conjunction with clinical findings, should guide the appropriate management approach. Even very young children are able to provide insights into what troubles them allowing children's thoughts and fears regarding this symptom to be addressed. We review the available literature on the nature and impact of tinnitus and as guidelines for this do not exist, suggest a pragmatic approach to the management of tinnitus in children. Children with troublesome tinnitus, however, should be referred on to a paediatric audiology department for further investigation and management.

  8. Benign Fibrous Histiocytoma: An Uncommon Presentation.

    PubMed

    Sarkar, Sagarika; Maiti, Moumita; Bhattacharyya, Palas; Sarkar, Ranu

    2017-07-01

    Intracranial fibrous histiocytomas are rare; Benign Fibrous Histiocytoma (BFH) being uncommon than its malignant counterpart. BFH comprises fibroblasts and histiocytes without any nuclear pleomorphism or atypia. We present a case of a 42-year-old male who had swelling over the occipital region for the past five years, which progressively increased in size. He developed headache, dizziness, and gait disturbance over the last six months. Computed tomographic scan revealed a posterior fossa space-occupying lesion. Fine-needle aspiration cytology from the swelling revealed spindled fibroblasts along with histiocytes and multinucleated giant cells. Later, histopathology showed presence of spindle-shaped cells in storiform pattern admixed with histiocytes and giant cells. The giant cells and histiocytes were immunopositive for CD68 and spindled cells were positive for vimentin, but immunonegative for CD34, epithelial membrane antigen, CD1a and S100. The final diagnosis was intracranial BFH. We present this case because of its extreme rarity and unusual location.

  9. Melanized Fungi in Human Disease

    PubMed Central

    Revankar, Sanjay G.; Sutton, Deanna A.

    2010-01-01

    Summary: Melanized or dematiaceous fungi are associated with a wide variety of infectious syndromes. Many are soil organisms and are generally distributed worldwide, though certain species appear to have restricted geographic ranges. Though they are uncommon causes of disease, melanized fungi have been increasingly recognized as important pathogens, with most reports occurring in the past 20 years. The spectrum of diseases with which they are associated has also broadened and includes allergic disease, superficial and deep local infections, pneumonia, brain abscess, and disseminated infection. For some infections in immunocompetent individuals, such as allergic fungal sinusitis and brain abscess, they are among the most common etiologic fungi. Melanin is a likely virulence factor for these fungi. Diagnosis relies on careful microscopic and pathological examination, as well as clinical assessment of the patient, as these fungi are often considered contaminants. Therapy varies depending upon the clinical syndrome. Local infection may be cured with excision alone, while systemic disease is often refractory to therapy. Triazoles such as voriconazole, posaconazole, and itraconazole have the most consistent in vitro activity. Further studies are needed to better understand the pathogenesis and optimal treatment of these uncommon infections. PMID:20930077

  10. Giant Cutaneous Horn Overlying A Verruca at an Uncommon Site: Medical Marvel vs Superstitious Dilemma.

    PubMed

    Sanjeeva, Karthik Kathladka; Ali, Puttur Sainuddin Mohammed Ameer; Pinto, Malcolm; Rao, Srikar; Rai, Arvind Shivram

    2015-04-01

    Cutaneous horn has been a matter of discussion to mankind since time immemorial and a subject of fascination for the layman. There have been instances where certain groups saw it with angst and disgust, with a person having a large cutaneous horn on an exposed area getting a dismal look. We present a case of a 64-year-old man with a giant cutaneous horn over his left gluteal region. Cutaneous horns more commonly present in the sun-exposed areas. In our case it has presented in an uncommon site. The patient had delayed and denied medical treatment due to his superstitious beliefs, after having sought advice from faith healers leading to progression of the disease. This case has been presented for its giant size (rare variety), its location being over the gluteal region (photo-protected site) and its benign histopathology suggestive of wart in spite of the giant size.

  11. Uncommon EGFR mutations in cytological specimens of 1,874 newly diagnosed Indonesian lung cancer patients

    PubMed Central

    Syahruddin, Elisna; Wulandari, Laksmi; Sri Muktiati, Nunuk; Rima, Ana; Soeroso, Noni; Ermayanti, Sabrina; Levi, Michael; Hidajat, Heriawaty; Widjajahakim, Grace; Utomo, Ahmad Rusdan Handoyo

    2018-01-01

    Purpose We aimed to evaluate the distribution of individual epidermal growth factor receptor (EGFR) mutation subtypes found in routine cytological specimens. Patients and methods A retrospective audit was performed on EGFR testing results of 1,874 consecutive cytological samples of newly diagnosed or treatment-naïve Indonesian lung cancer patients (years 2015–2016). Testing was performed by ISO15189 accredited central laboratory. Results Overall test failure rate was 5.1%, with the highest failure (7.1%) observed in pleural effusion and lowest (1.6%) in needle aspiration samples. EGFR mutation frequency was 44.4%. Tyrosine kinase inhibitor (TKI)-sensitive common EGFR mutations (ins/dels exon 19, L858R) and uncommon mutations (G719X, T790M, L861Q) contributed 57.1% and 29%, respectively. Approximately 13.9% of mutation-positive patients carried a mixture of common and uncommon mutations. Women had higher EGFR mutation rate (52.9%) vs men (39.1%; p<0.05). In contrast, uncommon mutations conferring either TKI responsive (G719X, L861Q) or TKI resistance (T790M, exon 20 insertions) were consistently more frequent in men than in women (67.3% vs 32.7% or 69.4% vs 30.6%; p<0.05). Up to 10% EGFR mutation–positive patients had baseline single mutation T790M, exon 20 insertion, or in coexistence with TKI-sensitive mutations. Up to 9% patients had complex or multiple EGFR mutations, whereby 48.7% patients harbored TKI-resistant mutations. One patient presented third-generation TKI-resistant mutation L792F simultaneously with T790M. Conclusion Routine diagnostic cytological techniques yielded similar success rate to detect EGFR mutations. Uncommon EGFR mutations were frequent events in Indonesian lung cancer patients. PMID:29615847

  12. Uncommon EGFR mutations in cytological specimens of 1,874 newly diagnosed Indonesian lung cancer patients.

    PubMed

    Syahruddin, Elisna; Wulandari, Laksmi; Sri Muktiati, Nunuk; Rima, Ana; Soeroso, Noni; Ermayanti, Sabrina; Levi, Michael; Hidajat, Heriawaty; Widjajahakim, Grace; Utomo, Ahmad Rusdan Handoyo

    2018-01-01

    We aimed to evaluate the distribution of individual epidermal growth factor receptor ( EGFR ) mutation subtypes found in routine cytological specimens. A retrospective audit was performed on EGFR testing results of 1,874 consecutive cytological samples of newly diagnosed or treatment-naïve Indonesian lung cancer patients (years 2015-2016). Testing was performed by ISO15189 accredited central laboratory. Overall test failure rate was 5.1%, with the highest failure (7.1%) observed in pleural effusion and lowest (1.6%) in needle aspiration samples. EGFR mutation frequency was 44.4%. Tyrosine kinase inhibitor (TKI)-sensitive common EGFR mutations (ins/dels exon 19, L858R) and uncommon mutations (G719X, T790M, L861Q) contributed 57.1% and 29%, respectively. Approximately 13.9% of mutation-positive patients carried a mixture of common and uncommon mutations. Women had higher EGFR mutation rate (52.9%) vs men (39.1%; p <0.05). In contrast, uncommon mutations conferring either TKI responsive (G719X, L861Q) or TKI resistance (T790M, exon 20 insertions) were consistently more frequent in men than in women (67.3% vs 32.7% or 69.4% vs 30.6%; p <0.05). Up to 10% EGFR mutation-positive patients had baseline single mutation T790M, exon 20 insertion, or in coexistence with TKI-sensitive mutations. Up to 9% patients had complex or multiple EGFR mutations, whereby 48.7% patients harbored TKI-resistant mutations. One patient presented third-generation TKI-resistant mutation L792F simultaneously with T790M. Routine diagnostic cytological techniques yielded similar success rate to detect EGFR mutations. Uncommon EGFR mutations were frequent events in Indonesian lung cancer patients.

  13. A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant.

    PubMed

    Ching, C K; Mak, Chloe M; Au, K M; Chan, K Y; Yuen, Y P; Yau, Eric K C; Ma, Louis C K; Chow, H L; Chan, Albert Y W

    2013-08-01

    We report an uncommon mitochondrial variant in a baby girl with congenital hyperlactataemia and Leigh syndrome. The patient presented with a single episode of generalised clonic convulsion at day 19, and was found to have isolated and persistent hyperlactataemia ranging from 3.34 to 9.26 mmol/L. She had elevated serum lactate-to-pyruvate ratios of up to 35 and high plasma alanine concentration, indicative of a respiratory chain defect. At the age of 8 months, she developed evolving neurological and imaging features compatible with Leigh syndrome. Genetic testing for common mitochondrial DNA mutations, large mitochondrial DNA deletions, and selected nuclear genes was negative. Further analysis of lymphocyte mitochondrial DNA by sequencing revealed an uncommon heteroplasmic variant, NC_012920.1(MT-ND5):m.13094T>C (p.Val253Ala), which was previously shown to reduce complex I activity. In patients in whom there was a high suspicion of mitochondrial disorder, entire mitochondrial DNA analysis may be warranted if initial screening of common mitochondrial DNA mutations is negative.

  14. Struma Ovarii in Pregnancy: An Uncommon Cause of Hyperthyroidism.

    PubMed

    Merza, Zayd; White, Duncan; Khanem, Noor

    2015-08-01

    A 28-year-old woman presented with weight loss and tiredness. Investigations revealed hyperthyroidism. She was commenced on treatment and later became pregnant. Her thyroid levels remained raised, and she later underwent an elective cesarean delivery and ovarian cystectomy. Only a partial cystectomy was achieved, and histopathology examination revealed struma ovarii. An isotope uptake scan ((123)I) including her pelvis revealed low uptake in the thyroid gland and an area of high uptake in her pelvis. The cyst was subsequently removed, and within days, her thyroid hormone levels dropped. This case illustrates the importance of considering uncommon causes of hyperthyroidism.

  15. Cavernous hemangioma--uncommon presentation in zygomatic bone.

    PubMed

    Dhupar, Vikas; Yadav, Sunil; Dhupar, Anita; Akkara, Francis

    2012-03-01

    Hemangiomas are benign vascular neoplasms characterized by an abnormal proliferation of blood vessels. They may occur in any vascularized tissue including skin, subcutaneous tissue, muscle, and bone. Intraosseous hemangiomas are uncommon, constituting less than 1% of all osseous tumors. The most frequent sites are the calvaria and the vertebral column. Involvement of the facial bones is rare and occurs most commonly in the maxilla, mandible, and nasal bones. In literature, only 20 cases of zygomatic involvement have been reported. We report a case of an intraosseous hemangioma of the zygoma with the history and physical findings of slowly growing, bony, hard tumor causing facial and ocular deformity. The typical clinicopathologic and radiologic findings helped to set up the correct diagnosis. Early recognition and excision are recommended to preserve facial contour. Operative blood loss is minimal, and there is no need for preoperative angiography.

  16. Grave's Disease and Primary Biliary Cirrhosis-An Unusual and Challenging Association.

    PubMed

    Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

    2014-03-01

    Jaundice in Grave's diseases is uncommon, but when it does occur, complication of thyrotoxicosis (heart failure/infection) or intrinsic liver disease should be considered. Grave's disease can cause asymptomatic elevation of liver enzymes, jaundice and rarely acute liver failure. It is associated with other autoimmune diseases like autoimmune hepatitis, or primary biliary cirrhosis. The cause of jaundice in Grave's disease is multifactorial.

  17. Bordetella pertussis is an uncommon pathogen in children hospitalized with bronchiolitis during the winter season.

    PubMed

    Piedra, Pedro A; Mansbach, Jonathan M; Jewell, Alan M; Thakar, Sneha D; Grant, Cameron C; Sullivan, Ashley F; Espinola, Janice A; Camargo, Carlos A

    2015-06-01

    In the United States (U.S.), Bordetella pertussis incidence has increased. Cough and apnea are common findings in pertussis and also in bronchiolitis, the most common cause of hospitalization in U.S. infants. The objective was to determine the prevalence of B. pertussis infection in children hospitalized with bronchiolitis and to describe its clinical course. Children hospitalized with bronchiolitis and age <2 years were eligible for a prospective, multicenter cohort study during 3 consecutive winter seasons (November-March) from 2007 to 2010. Sixteen sites in 12 states participated using a standardized enrollment protocol. Families were asked the 2010 Centers for Disease Control and Prevention pertussis classification questions. Nasopharyngeal aspirates were obtained and tested by real-time polymerase chain reaction for 16 viruses, Mycoplasma pneumoniae and B. pertussis. Two thousand sixty-eight (94%) of 2207 children had 1 or more respiratory pathogens. B. pertussis was identified in 4 children [0.2%; 95% confidence interval (CI): 0.1-0.5%] with 3 having a viral co-infection. All 4 were younger than 4 months; 2 met the Centers for Disease Control and Prevention definition of probable pertussis; and 3 had received at least 1 dose of an acellular pertussis vaccine. During the hospitalization, 2 had paroxysmal cough, 1 required intensive care unit care and the median length of stay was 13 days. Our data support that B. pertussis is an uncommon pathogen in U.S. children hospitalized with bronchiolitis in the winter. Making a diagnosis of pertussis can be challenging because the disease can be atypical and may not meet the Centers for Disease Control and Prevention definition of probable infection.

  18. Nonrheumatic myopericarditis post acute streptococcal pharyngitis: An uncommon cause of sore throat with ST segment elevation.

    PubMed

    Pourmand, Ali; Gelman, Daniel; Davis, Steven; Shokoohi, Hamid

    2017-05-01

    Nonrheumatic myopericarditis is an uncommon complication of acute pharyngitis caused by Group A Streptococcal infection (GAS). While the natural history of carditis complicating acute rheumatic fever is well established, the incidence, pathophysiology and clinical course of nonrheumatic myopericarditis are ill defined. Advances in rapid bedside testing for both myocardial injury and GAS pharyngitis have allowed for increasing recognition of this uncommon complication in patients presenting with a sore throat with associated chest discomfort. We describe a case of a 34years old man with GAS pharyngitis complicated by acute myopericarditis who presented with chest pain, ST segment elevation on electrocardiogram, and elevated cardiac biomarkers. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. A Pilot Study of Women’s Affective Responses to Common and Uncommon Forms of Aerobic Exercise

    PubMed Central

    Stevens, Courtney J.; Smith, Jane Ellen; Bryan, Angela D.

    2015-01-01

    Objective To test the extent to which participants exposed to an uncommon versus common exercise stimulus would result in more favourable affect at post task. Design Experimental design. Participants, (N = 120) American women aged 18–45 years, were randomly assigned to complete 30-minutes of either the uncommon (HOOP; n = 58) or common (WALK; n = 62) exercise stimulus. Main Outcome Measures Self-reported affect and intentions for future exercise were measured before and after the 30-minute exercise bout. Results Analyses of covariance (ANCOVA) were run to compare post-task affect across the HOOP and WALK conditions. At post-task, participants assigned to HOOP reported more positively valenced affect, higher ratings of positive activated affect, lower ratings of negative deactivated affect, and stronger intentions for future aerobic exercise compared to participants assigned to WALK. Conclusions Participants who completed an uncommon bout of aerobic exercise (HOOP) reported more favourable affect post-exercise, as well as stronger intentions for future exercise, compared to participants who completed a common bout of aerobic exercise (WALK). Future work using a longitudinal design is needed to understand the relationships between familiarity with an exercise stimulus, affective responses to exercise, motivation for future exercise behaviour, and exercise maintenance over time. PMID:26394246

  20. Grave's Disease and Primary Biliary Cirrhosis—An Unusual and Challenging Association

    PubMed Central

    Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

    2013-01-01

    Jaundice in Grave's diseases is uncommon, but when it does occur, complication of thyrotoxicosis (heart failure/infection) or intrinsic liver disease should be considered. Grave's disease can cause asymptomatic elevation of liver enzymes, jaundice and rarely acute liver failure. It is associated with other autoimmune diseases like autoimmune hepatitis, or primary biliary cirrhosis. The cause of jaundice in Grave's disease is multifactorial. PMID:25755537

  1. [Strychnine poisoning: uncommon, but does still happen].

    PubMed

    van Berlo-van de Laar, Inge R F; Arbouw, Maurits E L; Bles, Carmen M A

    2015-01-01

    Acute strychnine poisoning is an uncommon form of intoxication, characterized by severe tonic clonic seizures and tetanus-like contractions while the patient is fully conscious. It can result in respiratory failure, leading to death. A 47-year-old man was admitted to the casualty department 2 hours after self-poisoning with strychnine. The clinical picture consisted of persistent seizures, which were treated with midazolam and propofol. The patient went into respiratory failure and asystole, so intubation and cardiac massage were initiated. Other complications were severe metabolic acidosis, hyperthermia and rhabdomyolysis with renal failure. The treatment consisted of cooling, hyperhydration and intravenous administration of sodium bicarbonate. He was discharged to a mental care institution with no persistent symptoms 11 days later. Early aggressive treatment of a strychnine intoxication can be life-saving. Knowledge of the clinical picture and the right treatment is important. Treatment is primarily focussed on stopping the convulsions and securing the airway.

  2. An uncommon presentation of Kikuchi Fujimoto disease: a case report with literature review.

    PubMed

    Ranabhat, Sabin; Tiwari, Mamta; Kshetri, Jiwan; Maharjan, Sushna; Osti, Bidur Prasad

    2015-09-26

    Kikuchi-Fujimoto disease is so named because Kikuchi and Fujimoto were the first scientists to describe it in Japan in 1972. Although the disease has been reported from all over the world and more so from Asia, it is rare. To date only eight cases have been reported from Nepal. Cervical lymphadenopathy, fever and raised Erythrocyte Sedimentation Rate are usual presenting features of this disease. We describe a case which presented with thrombocytopenia and axillary lymphadenopathy in addition to the usual features. Out of the total eight cases that have been reported from Nepal so far, no patients had thrombocytopenia and only one patient had axillary lymphadenopathy. A 24-year-old Nepali female presented with a 3-week history of low-grade fever, headache, and painful, discrete, unilateral left-sided cervical and axillary lymphadenopathy. Among the multitude of tests that were carried out, Erythrocyte Sedimentation Rate was raised and there was thrombocytopenia while other tests were normal. Painful lymphadenopathy pointed to bacterial lymphadenitis while chronic low-grade fever suggested tuberculosis. A cervical lymph node was excised for histopathological examination to reach an accurate diagnosis. On the basis of pathognomonic features viz., paracortical foci composed of various types of histiocytes including crescentic type in the background of abundant apoptotic karyorrhectic debris, a diagnosis of Kikuchi-Fujimoto disease was made. On follow-up evaluation after 6 weeks, the patient had no systemic symptoms, enlarged lymph nodes had regressed in size significantly, and Erythrocyte Sedimentation Rate and platelet count had become normal. Kikuchi-Fujimoto disease should be kept in the differential diagnosis of lymphadenopathy in young patients, female or male even in tuberculosis-endemic countries and even in patients who have unusual features; for example thrombocytopenia and involvement of axillary lymph nodes in addition to cervical lymph nodes as in this

  3. Extraordinary electronic properties in uncommon structure types

    NASA Astrophysics Data System (ADS)

    Ali, Mazhar Nawaz

    In this thesis I present the results of explorations into several uncommon structure types. In Chapter 1 I go through the underlying idea of how we search for new compounds with exotic properties in solid state chemistry. The ideas of exploring uncommon structure types, building up from the simple to the complex, using chemical intuition and thinking by analogy are discussed. Also, the history and basic concepts of superconductivity, Dirac semimetals, and magnetoresistance are briefly reviewed. In chapter 2, the 1s-InTaS2 structural family is introduced along with the discovery of a new member of the family, Ag0:79VS2; the synthesis, structure, and physical properties of two different polymorphs of the material are detailed. Also in this chapter, we report the observation of superconductivity in another 1s structure, PbTaSe2. This material is especially interesting due to it being very heavy (resulting in very strong spin orbit coulping (SOC)), layered, and noncentrosymmetric. Electronic structure calculations reveal the presence of a bulk 3D Dirac cone (very similar to graphene) that is gapped by SOC originating from the hexagonal Pb layer. In Chapter 3 we show the re-investigation of the crystal structure of the 3D Dirac semimetal, Cd3As2. It is found to be centrosymmetric, rather than noncentrosymmetric, and as such all bands are spin degenerate and there is a 4-fold degenerate bulk Dirac point at the Fermi level, making Cd3As2 a 3D electronic analog to graphene. Also, for the first time, scanning tunneling microscopy experiments identify a 2x2 surface reconstruction in what we identify as the (112) cleavage plane of single crystals; needle crystals grow with a [110] long axis direction. Lastly, in chapter 4 we report the discovery of "titanic" (sadly dubbed ⪉rge, nonsaturating" by Nature editors and given the acronym XMR) magnetoresistance (MR) in the non-magnetic, noncentrosymmetric, layered transition metal dichalcogenide WTe2; over 13 million% at 0.53 K in

  4. Silicone in HIV-1-infected patients: a cause of misdiagnosed granulomatous disease.

    PubMed

    Males, Sylvia; Joly, Veronique; Adle-Biassette, Homa; Abgrall, Sophie; Lariven, Sylvie; Leboulanger, Nicolas; Yeni, Patrick

    2010-09-01

    Granulomatous diseases are common in HIV-infected patients and are usually related to opportunistic infectious or tumoral conditions. We report three cases of uncommon granulomatous disease in HIV-infected patients who had previously received silicone and for which diagnostic investigations remained negative. Copyright © 2010 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  5. Undulating tongue in Wilson's disease

    PubMed Central

    Nagappa, M; Sinha, S; Saini, JS; Bindu, PS; Taly, AB

    2014-01-01

    We report an unusual occurrence of involuntary movement involving the tongue in a patient with confirmed Wilson's disease (WD). She manifested with slow, hypophonic speech and dysphagia of 4 months duration, associated with pseudobulbar affect, apathy, drooling and dystonia of upper extremities of 1 month duration. Our patient had an uncommon tongue movement which was arrhythmic. There was no feature to suggest tremor, chorea or dystonia. It might be described as athetoid as there was a writhing quality, but of lesser amplitude. Thus, the phenomenology was uncommon in clinical practice and the surface of the tongue was seen to “ripple” like a liquid surface agitated by an object or breeze. Isolated lingual dyskinesias are rare in WD. It is important to evaluate them for WD, a potentially treatable disorder. PMID:25024581

  6. Rectal ulcer with an elusive diagnosis: all that ulcers is not Crohn disease

    USDA-ARS?s Scientific Manuscript database

    A single rectal ulcer is an uncommon finding in children with gastrointestinal disease. Although inflammatory bowel disease (IBD) is foremost among the differential diagnoses, a primary immunological defect should not be forgotten. Because of the paucity of literature on the association of rectal ul...

  7. Clinical features and treatment outcome of non-small cell lung cancer (NSCLC) patients with uncommon or complex epidermal growth factor receptor (EGFR) mutations

    PubMed Central

    Fassan, Matteo; Indraccolo, Stefano; Calabrese, Fiorella; Favaretto, Adolfo; Bonanno, Laura; Polo, Valentina; Zago, Giulia; Lunardi, Francesca; Attili, Ilaria; Pavan, Alberto; Rugge, Massimo; Guarneri, Valentina; Conte, PierFranco; Pasello, Giulia

    2017-01-01

    Introduction Tyrosine-kinase inhibitors (TKIs) represent the best treatment for advanced non-small cell lung cancer (NSCLC) with common exon 19 deletion or exon 21 epidermal growth factor receptor mutation (EGFRm). This is an observational study investigating epidemiology, clinical features and treatment outcome of NSCLC cases harbouring rare/complex EGFRm. Results Among 764 non-squamous NSCLC cases with known EGFRm status, 26(3.4%) harboured rare/complex EGFRm. Patients receiving first-line TKIs (N = 17) achieved median Progression Free Survival (PFS) and Overall Survival (OS) of 53 (IC 95%, 2–105) and 84 (CI 95%, 27–141) weeks respectively, without significant covariate impact. Response Rate and Disease Control Rate (DCR) were 47% and 65%, respectively. Uncommon exon 19 mutations achieved longer OS and PFS and higher DCR compared with exon 18 and 20 mutations. No additional gene mutation was discovered by MassARRAY analysis. TKIs were globally well tolerated. Materials and methods A retrospective review of advanced non-squamous NSCLC harbouring rare/complex EGFRm referred to our Center between 2010 and 2015 was performed. Additional molecular pathways disregulation was explored in selected cases, through MassARRAY analysis. Conclusions Peculiar clinical features and lower TKIs sensitivity of uncommon/complex compared with common EGFRm were shown. Exon 19 EGFRm achieved the best TKIs treatment outcome, while the optimal treatment of exon 18 and 20 mutations should be further clarified. PMID:28427238

  8. Uncommon Sense - The Heretical Nature of Science

    NASA Astrophysics Data System (ADS)

    Cromer, Alan

    1995-08-01

    Most people believe that science arose as a natural end-product of our innate intelligence and curiosity, as an inevitable stage in human intellectual development. But physicist and educator Alan Cromer disputes this belief. Cromer argues that science is not the natural unfolding of human potential, but the invention of a particular culture, Greece, in a particular historical period. Indeed, far from being natural, scientific thinking goes so far against the grain of conventional human thought that if it hadn't been discovered in Greece, it might not have been discovered at all.In Uncommon Sense , Alan Cromer develops the argument that science represents a radically new and different way of thinking. Using Piaget's stages of intellectual development, he shows that conventional thinking remains mired in subjective, "egocentric" ways of looking at the world--most people even today still believe in astrology, ESP, UFOs, ghosts and other paranormal phenomena--a mode of thought that science has outgrown. He provides a fascinating explanation of why science began in Greece, contrasting the Greek practice of debate to the Judaic reliance on prophets for acquiring knowledge. Other factors, such as a maritime economy and wandering scholars (both of which prevented parochialism) and an essentially literary religion not dominated by priests, also promoted in Greece an objective, analytical way of thinking not found elsewhere in the ancient world. He examines India and China and explains why science could not develop in either country. In China, for instance, astronomy served only the state, and the private study of astronomy was forbidden. Cromer also provides a perceptive account of science in Renaissance Europe and of figures such as Copernicus, Galileo, and Newton. Along the way, Cromer touches on many intriguing topics, arguing, for instance, that much of science is essential complete; there are no new elements yet to be discovered. He debunks the vaunted SETI (Search for

  9. Αn uncommon coexistence of primary sexual, cough and exercise headaches: the first three cases from Greece.

    PubMed

    Bougea, A; Constantinides, V; Anagnostou, E; Kararizou, E

    2015-01-01

    The "other primary headaches" encompasses a group of uncommon but distinct headache disorders. The coexistence of their subforms such as primary sexual and exercise headache is not a new phenomenon, but in association with cough headache is rather uncommon. Report of cases: We report three cases with a rare coexistence of primary cough, exercise and associated with sexual activity headache. Indomethacin was effective in all patients. The leading pathophysiological explanation involves a rapid rise in intra-abdominal pressure exertional factors or an inappropriate reaction in the cerebral vasculature. Further studies are needed to confirm a common pathogenic mechanism in these patients. Τhe coexistence of these headaches needs to be taken into account in the final classification that is expected to be available in 2016. Hippokratia 2015; 19 (4): 369-371.

  10. Geode of the femur: an uncommon manifestation potentially reflecting the pathogenesis of rheumatoid arthritis.

    PubMed

    Lee, Wonuk; Terk, Michael R; Hu, Bing; Garber, Elayne K; Weisman, Michael H

    2006-12-01

    Geodes are noted frequently in rheumatoid arthritis (RA), but large geodes of the femur are uncommon. We describe a patient with RA and a large geode in his femur; histological findings were consistent with a rheumatoid nodule and chronically inflamed synovium. We review the literature of large femoral geodes and what this particular manifestation may reflect about the pathogenesis of RA.

  11. Dermatomyositis and myastenia gravis: An uncommon association with therapeutic implications.

    PubMed

    Sangüesa Gómez, Clara; Flores Robles, Bryan Josué; Méndez Perles, Clara; Barbadillo, Carmen; Godoy, Hildegarda; Andréu, José Luis

    2015-01-01

    The association of dermatomyositis with myasthenia gravis (MG) is uncommon, having been reported so far in only 26 cases. We report the case of a 69 year-old man diagnosed with MG two years ago and currently treated with piridostigmyne. The patient developed acute proximal weakness, shoulder pain and elevated creatine-kinase (CK). He also developed generalized facial erythema and Gottron's papules. Laboratory tests showed positive antinuclear and anti-Mi2 antibodies. Further analysis confirmed CK levels above 1000 U/l. The clinical management of the patient and the therapeutic implications derived from the coexistence of both entities are discusssed. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  12. Changes in Bacteria Induce Inflammatory Skin Diseases | Center for Cancer Research

    Cancer.gov

    Atopic dermatitis (AD) is a chronic inflammatory skin disease that manifests as dry skin with a relentless itch and eczema. AD is considered an allergic disease in which the skin inflammation manifests in response to chronic exposure to contact allergens. However, identification of a responsible allergen is uncommon. Meanwhile, analyses have demonstrated that the surface of

  13. Mammary and extramammary Paget's disease

    PubMed Central

    Lloyd, J; Flanagan, A

    2000-01-01

    Mammary and extramammary Paget's disease are uncommon intraepithelial adenocarcinomas. Both conditions have similar clinical features, which mimic inflammatory and infective diseases. Histological diagnostic confusion can arise between Paget's disease and other neoplastic conditions affecting the skin, with the most common differential diagnoses being malignant melanoma and atypical squamous disease. The glandular differentiation of both mammary Paget's disease and extramammary Paget's disease is indicated by morphological appearances, the presence of intracellular mucin in many cases, and positive immunohistochemical staining for glandular cytokeratins, epithelial membrane antigen, and carcinoembryonic antigen. This article provides an overview of mammary and extramammary Paget's disease and discusses recent evidence regarding the cell of origin. The concepts of primary and secondary Paget's disease are presented and the differential diagnosis is discussed with reference to immunohistochemical markers that might be of diagnostic value. Key Words: mammary Paget's disease • extramammary Paget's disease PMID:11064666

  14. The Cyborg Astrobiologist: scouting red beds for uncommon features with geological significance

    NASA Astrophysics Data System (ADS)

    McGuire, Patrick Charles; Díaz-Martínez, Enrique; Ormö, Jens; Gómez-Elvira, Javier; Rodríguez-Manfredi, José Antonio; Sebastián-Martínez, Eduardo; Ritter, Helge; Haschke, Robert; Oesker, Markus; Ontrup, Jörg

    2005-04-01

    The `Cyborg Astrobiologist' has undergone a second geological field trial, at a site in northern Guadalajara, Spain, near Riba de Santiuste. The site at Riba de Santiuste is dominated by layered deposits of red sandstones. The Cyborg Astrobiologist is a wearable computer and video camera system that has demonstrated a capability to find uncommon interest points in geological imagery in real time in the field. In this second field trial, the computer vision system of the Cyborg Astrobiologist was tested at seven different tripod positions, on three different geological structures. The first geological structure was an outcrop of nearly homogeneous sandstone, which exhibits oxidized-iron impurities in red areas and an absence of these iron impurities in white areas. The white areas in these `red beds' have turned white because the iron has been removed. The iron removal from the sandstone can proceed once the iron has been chemically reduced, perhaps by a biological agent. In one instance the computer vision system found several (iron-free) white spots to be uncommon and therefore interesting, as well as several small and dark nodules. The second geological structure was another outcrop some 600 m to the east, with white, textured mineral deposits on the surface of the sandstone, at the bottom of the outcrop. The computer vision system found these white, textured mineral deposits to be interesting. We acquired samples of the mineral deposits for geochemical analysis in the laboratory. This laboratory analysis of the crust identifies a double layer, consisting of an internal millimetre-size layering of calcite and an external centimetre-size efflorescence of gypsum. The third geological structure was a 50 cm thick palaeosol layer, with fossilized root structures of some plants. The computer vision system also found certain areas of these root structures to be interesting. A quasi-blind comparison of the Cyborg Astrobiologist's interest points for these images with the

  15. Intra-articular fibrous band of the ankle: an uncommon cause of post-traumatic ankle pain.

    PubMed

    Slavotinek, J P; Zadow, S; Martin, D K

    2006-12-01

    A case of an intra-articular fibrous band of the ankle is presented with emphasis on the MR imaging appearances. This entity is an important but uncommon cause of post-traumatic ankle pain and is well recognized within the arthroscopy literature, but there is little if any documentation of this condition in the imaging literature.

  16. Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): An Uncommon Manifestation of Systemic Lupus Erythematosus (SLE)

    PubMed Central

    Abraham, Hrudya; Kuzhively, Jose; Rizvi, Syed W.

    2017-01-01

    Patient: Female, 40 Final Diagnosis: Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Symptoms: Gait disorder Medication: — Clinical Procedure: — Specialty: Rheumatology Objective: Rare disease Background: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an uncommon manifestation of systemic lupus erythematosus (SLE). We report a case of SLE presenting as CIDP and discuss the diagnosis, management, and prognosis of CIDP. Case Report: A 40-year-old woman with a past medical history of SLE treated with hydroxychloroquine presented with bilateral, progressive, ascending, sensory and motor neuropathy. Physical examination showed weakness and reduced temperature of all extremities, reduced pinprick and vibration sense of the distal extremities, loss of reflexes, and walking with a wide-based unsteady gait. Laboratory investigations showed positive antinuclear antibodies (ANA), anti-(smooth muscle (SM) antibody, anti-RNP antibody, anti-SSA antibody, anti-ds-DNA antibody, and an erythrocyte sedimentation rate (ESR) of 75 mm/hr, low C4, leukopenia, and anemia. Electromyography (EMG) confirmed the diagnosis of CIDP. The patient’s neuropathy and muscle weakness improved on treatment with intravenous immunoglobulin (IVIG) and high-dose steroids. Conclusions: The early clinical diagnosis of CIDP, supported by serological autoantibody profiles associated with SLE, can predict a good response to steroids. Most patients with CIDP are treated successfully with steroids if the diagnosis is made early. IVIG, plasmapheresis, or immunosuppressive therapy should be considered if there is no response to steroids. PMID:28894082

  17. Mondor's disease of penis: a forgotten disease.

    PubMed

    Kumar, B; Narang, T; Radotra, B D; Gupta, S

    2005-12-01

    Mondor's disease of penis is an uncommon genital condition involving the penile sulcus in a circumferential manner. Although this disorder is almost always self limited, it is associated with considerable psychological stress and sexual disharmony. All patients attending the sexually transmitted disease clinic during 1991-2003 were examined for evidence of Mondor's disease of penis. Detailed history and clinical findings were recorded in a specially designed proforma. Histopathological examination and staining with CD31 and CD34 monoclonal antibodies was also done in 11 patients. 18 out of 1296 patients attending the sexually transmitted diseases (STD) clinic during the study period were found to have penile Mondor's disease, giving an incidence of 1.39%. 17 patients had history of one or more episodes of STDs. Histopathological specimens showed prominent vessels with plump endothelial cells and thickened blood vessel walls. The occasional vessel showed complete occlusion of its lumen. In our study we did not find any evidence of lymphatic involvement. Non-lymphatic vessels, mainly veins, were predominantly involved. In our opinion Mondor's phlebitis of penis or Mondor's disease of penis are better terms to describe the condition rather than non-venereal sclerosing lymphangitis.

  18. Toxoplasmosis presented as a submental mass: a common disease, uncommon presentation

    PubMed Central

    Li, Bo; Zou, Jian; Wang, Wei-Ya; Liu, Shi-Xi

    2015-01-01

    Submental mass secondary to toxoplasmosis is not common in clinical work. A diagnosis of toxoplasmosis is rarely considered by physicians. Here we describe a 50-year-old woman presented with a progressive, painful, submental and left neck swelling for 1 month. After having obtained an insufficient evidence from the fine-needle biopsy, the patient finally received an excisional biopsy which highly indicated the possibility of lymphadenopathy consistent with toxoplasmosis. Diagnosis of toxoplasmosis was finally established by a combination of the pathological criteria, together with the positive serological finding. According to review the clinical presentations, pathological characteristics, diagnostic standard and treatment of this disease, the article aims to remind otolaryngologists who are evaluating a neck mass should be aware of the infectious cause of lymphadenopathy and the possibility of toxoplasmosis. PMID:26045858

  19. Toxoplasmosis presented as a submental mass: a common disease, uncommon presentation.

    PubMed

    Li, Bo; Zou, Jian; Wang, Wei-Ya; Liu, Shi-Xi

    2015-01-01

    Submental mass secondary to toxoplasmosis is not common in clinical work. A diagnosis of toxoplasmosis is rarely considered by physicians. Here we describe a 50-year-old woman presented with a progressive, painful, submental and left neck swelling for 1 month. After having obtained an insufficient evidence from the fine-needle biopsy, the patient finally received an excisional biopsy which highly indicated the possibility of lymphadenopathy consistent with toxoplasmosis. Diagnosis of toxoplasmosis was finally established by a combination of the pathological criteria, together with the positive serological finding. According to review the clinical presentations, pathological characteristics, diagnostic standard and treatment of this disease, the article aims to remind otolaryngologists who are evaluating a neck mass should be aware of the infectious cause of lymphadenopathy and the possibility of toxoplasmosis.

  20. Bordetella Pertussis is an Uncommon Pathogen in Children Hospitalized with Bronchiolitis During the Winter Season

    PubMed Central

    Piedra, Pedro A.; Mansbach, Jonathan M.; Jewell, Alan M.; Thakar, Sneha D.; Grant, Cameron C.; Sullivan, Ashley F.; Espinola, Janice A.; Camargo, Carlos A.

    2015-01-01

    Background In the United States (U.S.), Bordetella pertussis incidence has increased. Cough and apnea are common findings in pertussis and also in bronchiolitis, the most common cause of hospitalization in U.S. infants. The objective was to determine the prevalence of B. pertussis infection in children hospitalized with bronchiolitis and to describe its clinical course. Methods Children hospitalized with bronchiolitis and age <2 years were eligible for a prospective, multicenter cohort study during three consecutive winter seasons (November to March) from 2007 to 2010. 16 sites in 12 states participated using a standardized enrollment protocol. Families were asked the 2010 Centers for Disease Control and Prevention (CDC) pertussis classification questions. Nasopharyngeal aspirates were obtained and tested by real time polymerase chain reaction for 16 viruses, Mycoplama pneumoniae and B. pertussis. Results 2068 (94%) of 2,207 children had one or more respiratory pathogens. B. pertussis was identified in 4 children (0.2%; 95% CI, 0.1–0.5%) with 3 having a viral co-infection. All 4 were younger than four months; 2 met the CDC definition of probable pertussis, and 3 had received at least one dose of an acellular pertussis vaccine. During the hospitalization, 2 had paroxysmal cough, 1 required ICU care, and the median length of stay was 13 days. Conclusion Our data support that B. pertussis is an uncommon pathogen in U.S. children hospitalized with bronchiolitis in the winter. Making a diagnosis of pertussis can be challenging because the disease can be atypical, and may not meet the CDC definition of probable infection. PMID:25970109

  1. Bilateral ovarian fibrothecoma. An uncommon cause of a large pelvic mass

    PubMed Central

    Salemis, Nikolaos S.; Panagiotopoulos, Nikolaos; Papamichail, Vera; Kiriakopoulos, Konstantinos; Niakas, Evangelos

    2010-01-01

    Ovarian fibrothecomas are uncommon tumors of gonadal stromal cell origin. They account for 3–4% of all ovarian tumors and in 90% of the cases are unilateral. Here, we describe a rare case of a bilateral ovarian fibrothecoma in a postmenopausal woman who presented with a large pelvic mass and metrorrhagia. Diagnostic evaluation and surgical management are discussed along with a brief review of the literature. Although rare, ovarian fibrothecoma should be considered in patients presenting with a large pelvic mass and postmenopausal bleeding. Radical surgery is the preferred management strategy for postmenopausal women with bilateral ovarian fibrothecomas and is associated with a good prognosis. PMID:22096681

  2. Bilateral ovarian fibrothecoma. An uncommon cause of a large pelvic mass.

    PubMed

    Salemis, Nikolaos S; Panagiotopoulos, Nikolaos; Papamichail, Vera; Kiriakopoulos, Konstantinos; Niakas, Evangelos

    2011-01-01

    Ovarian fibrothecomas are uncommon tumors of gonadal stromal cell origin. They account for 3-4% of all ovarian tumors and in 90% of the cases are unilateral. Here, we describe a rare case of a bilateral ovarian fibrothecoma in a postmenopausal woman who presented with a large pelvic mass and metrorrhagia. Diagnostic evaluation and surgical management are discussed along with a brief review of the literature. Although rare, ovarian fibrothecoma should be considered in patients presenting with a large pelvic mass and postmenopausal bleeding. Radical surgery is the preferred management strategy for postmenopausal women with bilateral ovarian fibrothecomas and is associated with a good prognosis.

  3. Adder bite: an uncommon cause of compartment syndrome in northern hemisphere

    PubMed Central

    2010-01-01

    Snakebite envenomation is an uncommon condition in the northern hemisphere, but requires high vigilance with regard to both the systemic effects of the venom and the locoregional impact on the soft tissues. Bites from the adder, Vipera Berus, may have serious clinical consequences due to systemic effects. A case of a 44-year-old man is reported. The patient was bitten in the right hand. He developed fasciotomy-requiring compartment syndrome of the upper limb. Recognition of this most seldom complication of an adder bite is vital to save the limb. We recommend that the classical signs and symptoms of compartment syndrome serve as indication for surgical decompression. PMID:20854675

  4. Squamous cell carcinoma presenting with trigeminal anesthesia: An uncommon presentation of head & neck cancer with unknown primary.

    PubMed

    Shah, Ameer T; Dagher, Walid I; O'Leary, Miriam A; Wein, Richard O

    The differential diagnosis of facial anesthesia is vast. This may be secondary to trauma, neoplasm, both intracranial and extracranial, infection, and neurologic disease. When evaluating a patient with isolated facial anesthesia, the head and neck surgeon often thinks of adenoid cystic carcinoma, which has a propensity for perineural invasion and spread. When one thinks of head and neck squamous cell carcinoma with or without unknown primary, the typical presentation involves dysphagia, odynophagia, weight loss, hoarseness, or more commonly, a neck mass. Squamous cell carcinoma presenting as facial anesthesia and perineural spread, with no primary site is quite rare. Case presentations and review of the literature. Trigeminal anesthesia is an uncommon presentation of head and neck squamous cell carcinoma with unknown primary. We present two interesting cases of invasive squamous cell carcinoma of the trigeminal nerve, with no primary site identified. We will also review the literature of head and neck malignancies with perineural spread and the management techniques for the two different cases presented. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Minimally symptomatic hypocalcaemia unmasking celiac disease.

    PubMed

    Lazaridis, A; Drosou, M E; Fontalis, A; Prousali, E; Hadwe, S E; Giouleme, O; Petidis, K

    2016-11-01

    Celiac disease is an autoimmune disease of the small intestine which occurs in genetically predisposed people of all ages. A large clinical spectrum of manifestations accompanies the onset of the disease with diarrhoea, flatulence and weight loss being the most common. However, findings like osteoporosis, iron deficiency, anaemia and hypocalcaemia could also insinuate the existence of the disease. We report the case of a 55-year-old man with numbness and tingling of the upper extremities due to hypocalcaemia that proved to be an uncommon case of celiac disease. A non-negligible number of adult patients with celiac disease can present with only minor and subclinical manifestations of the disease. As such, hypocalcaemia may be the sole manifestation of celiac disease. A high index of suspicion is needed for prompt diagnosis. © The Author(s) 2016.

  6. Uncommon Pathways of Immune Escape Attenuate HIV-1 Integrase Replication Capacity

    PubMed Central

    Chopera, Denis R.; Olvera, Alex; Brumme, Chanson J.; Sela, Jennifer; Markle, Tristan J.; Martin, Eric; Carlson, Jonathan M.; Le, Anh Q.; McGovern, Rachel; Cheung, Peter K.; Kelleher, Anthony D.; Jessen, Heiko; Markowitz, Martin; Rosenberg, Eric; Frahm, Nicole; Sanchez, Jorge; Mallal, Simon; John, Mina; Harrigan, P. Richard; Heckerman, David; Brander, Christian; Walker, Bruce D.; Brumme, Zabrina L.

    2012-01-01

    An attenuation of the HIV-1 replication capacity (RC) has been observed for immune-mediated escape mutations in Gag restricted by protective HLA alleles. However, the extent to which escape mutations affect other viral proteins during natural infection is not well understood. We generated recombinant viruses encoding plasma HIV-1 RNA integrase sequences from antiretroviral-naïve individuals with early (n = 88) and chronic (n = 304) infections and measured the in vitro RC of each. In contrast to data from previous studies of Gag, we observed little evidence that host HLA allele expression was associated with integrase RC. A modest negative correlation was observed between the number of HLA-B-associated integrase polymorphisms and RC in chronic infection (R = −0.2; P = 0.003); however, this effect was not driven by mutations restricted by protective HLA alleles. Notably, the integrase variants S119R, G163E, and I220L, which represent uncommon polymorphisms associated with HLA-C*05, -A*33, and -B*52, respectively, correlated with lower RC (all q < 0.2). We identified a novel C*05-restricted epitope (HTDNGSNF114–121) that likely contributes to the selection of the S119R variant, the polymorphism most significantly associated with lower RC in patient sequences. An NL4-3 mutant encoding the S119R polymorphism displayed a ∼35%-reduced function that was rescued by a single compensatory mutation of A91E. Together, these data indicate that substantial HLA-driven attenuation of integrase is not a general phenomenon during HIV-1 adaptation to host immunity. However, uncommon polymorphisms selected by HLA alleles that are not conventionally regarded to be protective may be associated with impaired protein function. Vulnerable epitopes in integrase might therefore be considered for future vaccine strategies. PMID:22496233

  7. Uncommon pathways of immune escape attenuate HIV-1 integrase replication capacity.

    PubMed

    Brockman, Mark A; Chopera, Denis R; Olvera, Alex; Brumme, Chanson J; Sela, Jennifer; Markle, Tristan J; Martin, Eric; Carlson, Jonathan M; Le, Anh Q; McGovern, Rachel; Cheung, Peter K; Kelleher, Anthony D; Jessen, Heiko; Markowitz, Martin; Rosenberg, Eric; Frahm, Nicole; Sanchez, Jorge; Mallal, Simon; John, Mina; Harrigan, P Richard; Heckerman, David; Brander, Christian; Walker, Bruce D; Brumme, Zabrina L

    2012-06-01

    An attenuation of the HIV-1 replication capacity (RC) has been observed for immune-mediated escape mutations in Gag restricted by protective HLA alleles. However, the extent to which escape mutations affect other viral proteins during natural infection is not well understood. We generated recombinant viruses encoding plasma HIV-1 RNA integrase sequences from antiretroviral-naïve individuals with early (n = 88) and chronic (n = 304) infections and measured the in vitro RC of each. In contrast to data from previous studies of Gag, we observed little evidence that host HLA allele expression was associated with integrase RC. A modest negative correlation was observed between the number of HLA-B-associated integrase polymorphisms and RC in chronic infection (R = -0.2; P = 0.003); however, this effect was not driven by mutations restricted by protective HLA alleles. Notably, the integrase variants S119R, G163E, and I220L, which represent uncommon polymorphisms associated with HLA-C*05, -A*33, and -B*52, respectively, correlated with lower RC (all q < 0.2). We identified a novel C*05-restricted epitope (HTDNGSNF(114-121)) that likely contributes to the selection of the S119R variant, the polymorphism most significantly associated with lower RC in patient sequences. An NL4-3 mutant encoding the S119R polymorphism displayed a ~35%-reduced function that was rescued by a single compensatory mutation of A91E. Together, these data indicate that substantial HLA-driven attenuation of integrase is not a general phenomenon during HIV-1 adaptation to host immunity. However, uncommon polymorphisms selected by HLA alleles that are not conventionally regarded to be protective may be associated with impaired protein function. Vulnerable epitopes in integrase might therefore be considered for future vaccine strategies.

  8. Degos' disease: a distinctive pattern of disease, chiefly of lupus erythematosus, and not a specific disease per se.

    PubMed

    Ball, Elizabeth; Newburger, Amy; Ackerman, A Bernard

    2003-08-01

    Degos' disease, known confusingly as malignant strophic papularis, is an uncommon condition of unknown cause characterized by distinctive infarctive lesions in the skin, gastrointestinal tract, and central nervous system; the lesions at the two latter sites often result in death. We deem Degos' disease to be analogous to lupus erythematosus in the sense that each is fundamentally a systemic pathologic process involving several organs, among them the skin, but, moreover, we regard Degos' disease, in most instances, to be an actual manifestation of lupus erythematosus. Histopathologically, the findings in sections of tissue of skin lesions of Degos' disease are indistinguishable from those of one expression of cutaneous lupus erythematosus; immunopathologically, some patients with morphologic findings stereotypical of Degos' disease display signs characteristic of lupus erythematosus. For these reasons, we consider Degos' disease to be a distinctive pattern of disease, rather than a specific disease per se, just as are erythema multiforme, erythema nodosum, leukocytoclastic vasculitis, Sweet's syndrome, and pyoderma gangrenosum, to name but five of scores of them. The singular pattern that is designated Degos' disease usually is an expression of lupus erythematosus, but, episodically, of conditions like dermatomyositis and rheumatoid arthritis.

  9. Congenital Shunts of the Portal Venous System: Case-series of Uncommon Shunts.

    PubMed

    Santos, Liliana; Nobre, Susana; Laezza, Nadia; Cunha, Catarina; Gonçalves, Isabel; Lopes, Maria F

    Congenital shunts of the portal venous system are rare entities that can present in children with clinical heterogeneity. To evaluate the clinical course of children with uncommon shunts presenting to our institution and examine the available literature on this topic. Medical records of children with rare forms of congenital shunts were retrospectively reviewed for demographics, symptoms, management, and outcome between 2003 and 2016. Three female patients with congenital shunts, including a congenital mesenterico-portal Rex shunt (n = 1) and congenital portosystemic shunts (CPSS) (n = 2), were referred for surgical evaluation between ages 4 and 9. Median follow-up was 8 years (range, 6-13 years). One asymptomatic patient did not require treatment and remained disease-free during long-term follow-up. The other 2 patients with CPSS and unusual symptoms, including liver focal nodular hyperplasia (FNH) in infancy (n = 1) and bleeding from esophageal varices (n = 1), showed subsequent progression to liver nodules that were managed by endovascular shunt occlusion. One patient showed symptom resolution and the other showed stable lesions at last follow-up. Literature yielded descriptions of two cases of congenital mesenterico-portal Rex shunt, one case of coincident CPSS and FNH in infancy, but zero reports of bleeding from esophageal varices. This case series examines each distinct patient's presentation, discusses the diagnosis, management and outcome and compares findings while discussing literature on this topic. A high index of suspicion and familiarity with unusual forms and treatment options is required to allow timely diagnosis and appropriate treatment.

  10. Ulcerative colitis followed by the development of typical intestinal Behçet disease: A case report.

    PubMed

    Zhu, Zhenhua; Shu, Xu; Long, Shunhua; Jiang, Xiaozhen; Lu, Nonghua; Zhu, Xuan; Liao, Wangdi

    2018-02-01

    Intestinal Behçet disease (intestinal BD) and inflammatory bowel disease (IBD) share a lot of characteristics, including genetic background, clinical manifestations, and therapeutic strategies, especially the extraintestinal manifestations, such as oral ulcers, arthralgia, eye lesions, skin lesions, etc, but the coexistence of these 2 diseases are uncommon. Behçet disease with gastrointestinal involvement in ulcerative colitis (UC) patient has been reported in just 1 previous case report, but, which can not be diagnosed as definite intestinal BD based on Korean novel diagnositic criteria due to lacking the typical ileocecal ulcer. We present a 23-year-old woman with ulcerative disease who developed typical intestinal BD, which is the first case report of patient with coexisting UC and typical intestinal BD. This patient was diagnosed as coexistence of intestinal BD and UC base on the clinical manifestations, extra intestinal manifestations and typical colonoscopic findings. Steroid and methotrexate were administered. This patient achieved clinical remission and mucosal healing. Coexistence of intestinal BD and UC is uncommon, and the combination with steroid, methotrexate, and 5-aminosalicylic acids is an effective therapy.

  11. Metastatic breast disease from cutaneous malignant melanoma.

    PubMed

    Moschetta, Marco; Telegrafo, Michele; Lucarelli, Nicola Maria; Martino, Gianluigi; Rella, Leonarda; Stabile Ianora, Amato Antonio; Angelelli, Giuseppe

    2014-01-01

    Malignant melanoma is one of the most rapidly increasing cancer in the world. Breast metastases from melanoma are uncommon but could reflect a widespread disease. We report a case of malignant widespread melanoma presenting with bilateral breast nodules in a 39 year-old pre-menopausal Caucasian woman with an history of cutaneous melanoma of the trunk. Breast clinical examination revealed the presence of a hard and mobile lump located on the left breast. Ultrasound detected two bilateral nodules corresponding to oval opacities with well-defined edges and without calcifications or architectural distortion on mammography. Fine needle aspiration cytology performed on both breast nodules confirmed that the breast lesions were metastases from primary cutaneous malignant melanoma. A total-body CT examination detected brain, lung and abdominal lymph nodes metastases. The breast represents an uncommon site of metastatic disease from extra-mammary tumors. Imaging features of breast metastases from melanoma usually do not allow a differential diagnosis with breast primary tumors. Breast metastases may be asymptomatic or palpable as dense and well-circumscribed nodules. Breast metastases indicate a widespread disease and should lead to avoid aggressive surgical procedures because of the poor prognosis of patients affected by metastatic melanoma. The detection of bilateral breast metastases from melanoma is highly suggestive of metastatic multi-organ disease and could be useful to address the therapeutic approach. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

  12. Mondor's disease of penis: a forgotten disease

    PubMed Central

    Kumar, B; Narang, T; Radotra, B; Gupta, S

    2005-01-01

    Background: Mondor's disease of penis is an uncommon genital condition involving the penile sulcus in a circumferential manner. Although this disorder is almost always self limited, it is associated with considerable psychological stress and sexual disharmony. Methods: All patients attending the sexually transmitted disease clinic during 1991–2003 were examined for evidence of Mondor's disease of penis. Detailed history and clinical findings were recorded in a specially designed proforma. Histopathological examination and staining with CD31 and CD34 monoclonal antibodies was also done in 11 patients. Results: 18 out of 1296 patients attending the sexually transmitted diseases (STD) clinic during the study period were found to have penile Mondor's disease, giving an incidence of 1.39%. 17 patients had history of one or more episodes of STDs. Histopathological specimens showed prominent vessels with plump endothelial cells and thickened blood vessel walls. The occasional vessel showed complete occlusion of its lumen. Conclusions: In our study we did not find any evidence of lymphatic involvement. Non-lymphatic vessels, mainly veins, were predominantly involved. In our opinion Mondor's phlebitis of penis or Mondor's disease of penis are better terms to describe the condition rather than non-venereal sclerosing lymphangitis. PMID:16326851

  13. Legionnaire's Disease Since Philadelphia: Lessons Learned and Continued Progress.

    PubMed

    Cunha, Cheston B; Cunha, Burke A

    2017-03-01

    Legionnaire's disease has been recognized as a cause of severe community-acquired pneumonia (CAP). Legionnaire's disease has characteristic extrapulmonary findings that are the basis for a presumptive clinical diagnosis. The widespread use of Legionella culture, sputum DFA, serology, urinary antigen testing, and polymerase chain reaction have allowed earlier diagnosis of Legionnaire's disease. Excluding common source outbreaks, CAP caused by Legionnaire's disease is manifested as sporadic cases. In contrast, nosocomial Legionnaire's disease occurs in clusters or outbreaks from common Legionella species-contaminated water sources. Improved diagnostic tests have permitted accurate diagnosis. Bacterial coinfections with Legionnaire's disease are uncommon, but when present, are most often associated with bacteremia pneumococcal pneumonia. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Uncommon incidental pseudoaneurysm. Diagnostic and management challenges.

    PubMed

    Hadidy, Azmy M; Samara, Osama A; Takrouri, Heba S; Al-Ryalat, Nosaiba T; Al-Smady, Moaath M; Ryalat, Soukaina T; Abu-Khalaf, Mahmoad M

    2009-08-01

    To analyze patients with uncommon incidental pseudoaneurysms, secondary to non-catheterization causes, and to discuss the peculiar clinical spectrum, and focus on some aspects of difference from post-catheterization pseudoaneurysms. Eleven patients, 8 males and 3 females, were studied retrospectively in Jordan University Hospital, Amman, Jordan, between 2002-2008. Radiological studies performed included duplex sonography (DS), computed tomography (CT), conventional angiography, magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA). Pseudoaneurysms were most commonly encountered in young males (63.6%), especially in the lower limb vessels (36%). Clinical findings were suggestive of pseudoaneurysms in 27% of our cases. Four out of the 8 DS scans showed the neck of pseudoaneurysms, and the to and fro waveform, the strongest indicators for pseudoaneurysms. Both CT with intravenous contrast and angiography failed to establish the diagnosis in one out of 5 cases. The MRI with MRA showed the pseudoaneurysms in 2 patients that underwent the scan. Incidental pseudoaneurysms are considered following iatrogenic procedures, penetrating, or blunt traumas with variable delay time. Young healthy males are at increased risks, as opposed to elderly females with calcified vessels in post-catheterization cases. Duplex sonography is less sensitive in incidental than post-catheterization pseudoaneurysms. The CT scan with intravenous contrast has high accuracy in establishing the diagnosis in small, or medium sized pseudoaneurysms. The MRI and MRA are accurate valuable studies and comparable to conventional angiography.

  15. Addison's disease as a presentation of metastatic malignant melanoma.

    PubMed

    Srinivasan, B; Patel, M; Ethunandan, M; Ilankovan, V

    2016-01-01

    Melanoma accounts for 5% of all skin cancers. The risk of metastasis is related to the thickness of the tumour, and can affect local, regional and distant sites. Adrenal metastasis from melanoma of the head and neck is uncommon and often asymptomatic. Addison's disease as a presentation of metastatic melanoma is extremely rare and we are unaware of previous reports in the world literature. We report a case of a patient with metastatic melanoma presenting with signs and symptoms of Addison's disease.

  16. Neonatal Graves' Disease with Maternal Hypothyroidism.

    PubMed

    Akangire, Gangaram; Cuna, Alain; Lachica, Charisse; Fischer, Ryan; Raman, Sripriya; Sampath, Venkatesh

    2017-07-01

    Neonatal Graves' disease presenting as conjugated hyperbilirubinemia is a diagnostic challenge because the differential includes a gamut of liver and systemic diseases. We present a unique case of neonatal Graves' disease in a premature infant with conjugated hyperbilirubinemia born to a mother with hypothyroidism during pregnancy and remote history of Graves' disease. Infant was treated with a combination of methimazole, propranolol, and potassium iodide for 4 weeks. Thyroid function improved after 8 weeks of treatment with full recovery of thyroid function, disappearance of thyroid-stimulating antibodies, and resolution of failure to thrive and conjugated hyperbilirubinemia. This case provides several clinical vignettes as it is a rare, severe, presentation of an uncommon neonatal disease, signs, symptoms, and clinical history presented a diagnostic challenge for neonatologists and endocrinologists, normal newborn screen was misleading, and yet timely treatment led to a full recovery.

  17. Drowsiness and uncommon fever in a child after cannabis ingestion.

    PubMed

    Feliu, Catherine; Cazaubon, Yoann; Fouley, Aurélie; Guillemin, Hélène; Millart, Hervé; Gozalo, Claire; Djerada, Zoubir

    2017-08-01

    Trivialization of cannabis consumption goes hand in hand with a growing exposure of children and the number of cannabis poisoning cases is steadily increasing. As clinical presentation can be different from what is currently seen in adults, added to the fact that it is not always suspected, diagnosis of cannabis intoxication in children is often delayed or missed. A 16-month-old girl was admitted to the pediatric emergency unit for an important drowsiness combined to moderate fever. After elimination of infectious causes, a toxic origin was considered and biological analyses led to the diagnosis of involuntary acute cannabis intoxication. In conclusion, cannabis intoxication in child has uncommon presentations compared to that seen in adults. In this context, biological analyses have a great importance for a rapid diagnosis and also for the understanding intoxication circumstance. This is of paramount importance because it may lead to consider child protection measures.

  18. Current diagnosis and treatment of Castleman's disease.

    PubMed

    González García, A; Moreno Cobo, M Á; Patier de la Peña, J L

    2016-04-01

    Castleman's disease is not just a single disease but rather an uncommon, heterogeneous group of nonclonal lymphoproliferative disorders, which have a broad spectrum of clinical expression. Three histological types have been reported, along with several clinical forms according to clinical presentation, histological substrate and associated diseases. Interleukin-6, its receptor polymorphisms, the human immunodeficiency virus and the human herpes virus 8 are involved in the etiopathogenesis of Castleman's disease. The study of this disease has shed light on a syndrome whose incidence is unknown. Despite recent significant advances in our understanding of this disease and the increasing therapeutic experience with rituximab, tocilizumab and siltuximab, there are still difficult questions concerning its aetiology, prognosis and optimal treatment. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  19. Destructive discovertebral degenerative disease of the lumbar spine.

    PubMed

    Charran, A K; Tony, G; Lalam, R; Tyrrell, P N M; Tins, B; Singh, J; Eisenstein, S M; Balain, B; Trivedi, J M; Cassar-Pullicino, V N

    2012-09-01

    The uncommon variant of degenerative hip joint disease, termed rapidly progressive osteoarthritis, and highlighted by severe joint space loss and osteochondral disintegration, is well established. We present a similar unusual subset in the lumbar spine termed destructive discovertebral degenerative disease (DDDD) with radiological features of vertebral malalignment, severe disc resorption, and "bone sand" formation secondary to vertebral fragmentation. Co-existing metabolic bone disease is likely to promote the development of DDDD of the lumbar spine, which presents with back pain and sciatica due to nerve root compression by the "bone sand" in the epidural space. MRI and CT play a complimentary role in making the diagnosis.

  20. Languages of Sub-Saharan Africa. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Sub-Saharan Africa. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner whose…

  1. TYPICAL USES OF CERTAIN COMMON AND UNCOMMON PLANTS

    PubMed Central

    Hota, N. P.; Padhi, M.M.

    2003-01-01

    The beginning of medicinal uses of plants dates back to the scribing period of Vedas in India. In ancient days, such uses came into vogue due to accidental experimentation or observation which subsequently gave rise to practice either by a qualified physician or by an astrologer or by lay men, called nostrum or folk-lore. All these have their own distinct manner of use though they are very often intermingled. Apart from classical uses as mentioned in Ayurvedic, Unani or Sidha therapeutic treatises, material medica, texts on / pharmacy etc.; the new dimension of collecting additional information started in early part of 20th century where on several botanists contributed a lot for exploration of the same. Since Orissa is a treasure of folk-core claims and besides qualified practitioners, certain lay men especially in rural area and tribal area, saints and priests at different places also possess knowledge on certain typical uses of several plants, there is a larger scope to highlight the same for future study from difference angles. In this paper an attempt has been made to highlight certain newer information's on certain common and uncommon plants like Lygodium flexuosum, Vitex peduncularis, Barleria lupulina, Leptadenia reticulate, Selaginella indica, etc., collected from different parts of Orissa. PMID:22557106

  2. Vitamin B6: a challenging link between nutrition and inflammation in cardiovasular disease

    USDA-ARS?s Scientific Manuscript database

    The objective of the present review is to highlight the relationship between low vitamin B6 status and cardiovascular disease (CVD) through its link with inflammation. While overt vitamin B6 deficiency is uncommon in clinical practice, increasing evidence suggests that mild vitamin B6 deficiency is ...

  3. An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.

    PubMed

    Keçeli, Onur; Coskun-Benlidayı, İlke; Benlidayı, M Emre; Erdoğan, Özgür

    2014-01-01

    Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend test revealed a hump on the right side representing right thoracic scoliosis. Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar spina bifida on plain radiographs led to the diagnosis of Gorlin-Goltz syndrome. Since early diagnosis may provide optimum surveillance for related neoplasms, it is of paramount importance for pediatricians as well as physicians dealing with the musculoskeletal system to be aware of this rare condition.

  4. Isolated lacrimal gland involvement in Rosai-Dorfman-Destombes disease

    PubMed Central

    Bhalla, Sunita; Srivastava, Amit

    2008-01-01

    Rosai-Dorfman-Destombes (sinus histiocytosis with massive lymphadenopathy) disease is an uncommon disease characterized by benign proliferation of histiocytes, with painless lymph node enlargement and frequent extranodal disease. Orbital involvement occurs in 9-11% of cases. However, isolated Rosai- Dorfman-Destombes disease of the lacrimal gland without any systemic involvement is very rare with only three case reports. We describe here one such young male patient with unilateral lacrimal gland swelling. Excision biopsy revealed almost complete replacement of the lacrimal gland by lymphocytes, plasma cells and large pale histiocytes. The latter exhibited emperipolesis and stained positive for S-100 and CD68 on immunohistochemistry. Patient is well and has no other manifestation or recurrence of the disease during a follow-up of 24 months. PMID:18974525

  5. Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities.

    PubMed

    Mittag, Florian; Büchel, Finja; Saad, Mohamad; Jahn, Andreas; Schulte, Claudia; Bochdanovits, Zoltan; Simón-Sánchez, Javier; Nalls, Mike A; Keller, Margaux; Hernandez, Dena G; Gibbs, J Raphael; Lesage, Suzanne; Brice, Alexis; Heutink, Peter; Martinez, Maria; Wood, Nicholas W; Hardy, John; Singleton, Andrew B; Zell, Andreas; Gasser, Thomas; Sharma, Manu

    2012-12-01

    The success of genome-wide association studies (GWAS) in deciphering the genetic architecture of complex diseases has fueled the expectations whether the individual risk can also be quantified based on the genetic architecture. So far, disease risk prediction based on top-validated single-nucleotide polymorphisms (SNPs) showed little predictive value. Here, we applied a support vector machine (SVM) to Parkinson disease (PD) and type 1 diabetes (T1D), to show that apart from magnitude of effect size of risk variants, heritability of the disease also plays an important role in disease risk prediction. Furthermore, we performed a simulation study to show the role of uncommon (frequency 1-5%) as well as rare variants (frequency <1%) in disease etiology of complex diseases. Using a cross-validation model, we were able to achieve predictions with an area under the receiver operating characteristic curve (AUC) of ~0.88 for T1D, highlighting the strong heritable component (∼90%). This is in contrast to PD, where we were unable to achieve a satisfactory prediction (AUC ~0.56; heritability ~38%). Our simulations showed that simultaneous inclusion of uncommon and rare variants in GWAS would eventually lead to feasible disease risk prediction for complex diseases such as PD. The used software is available at http://www.ra.cs.uni-tuebingen.de/software/MACLEAPS/. © 2012 Wiley Periodicals, Inc.

  6. Riga-Fede disease in the upper jaw in an infant.

    PubMed

    Çavuş, Şule; Özmen, Bilal

    2017-09-01

    Riga-Fede disease is a benign and uncommon mucosal disorder. This illness is an ulceration of the oral mucosa and arises from repetitive traumatic injuries. The disease is usually caused by the sharp edges of new erupted teeth. The aim of the present case report is to present Riga-Fede disease and its treatment. We reported a 11-month-old healthy female infant diagnosed as Riga-Fede disease based on clinical features. After the conservative treatment that focused on eliminating the source of trauma, total healing was observed. Riga-Fede disease is rare. This illness can be confused with malignancies. Therefore, the diagnosis and treatment of this disease are very important for physicians and patients. © 2017 Wiley Periodicals, Inc.

  7. 5-Oxoproline as a cause of high anion gap metabolic acidosis: an uncommon cause with common risk factors.

    PubMed

    Kortmann, W; van Agtmael, M A; van Diessen, J; Kanen, B L J; Jakobs, C; Nanayakkara, P W B

    2008-09-01

    High anion gap metabolic acidosis might be caused by 5-oxoproline (pyroglutamic acid). As it is very easy to treat, it might be worth drawing attention to this uncommon and probably often overlooked diagnosis. We present three cases of high anion gap metabolic acidosis due to 5-oxoproline seen within a period of six months.

  8. Myocardial infarction in a 35-day-old infant with incomplete Kawasaki disease and chicken pox.

    PubMed

    Kossiva, Lydia; Papadopoulos, Marios; Lagona, Evangelia; Papadopoulos, George; Athanassaki, Corina

    2010-10-01

    Kawasaki disease is an acute febrile vasculitis of infancy and early childhood. It is uncommon in early infancy, because a significant proportion of these children do not meet the classical diagnostic criteria at this age. Infants younger than 6 months with persistent fever and some of the criteria of Kawasaki disease should always raise suspicion for Kawasaki disease early to avoid delayed diagnosis with severe cardiac complications. We present a 35-day-old infant with incomplete Kawasaki disease complicated with myocardial infarction during chicken pox.

  9. A report of three cases of untreated Graves' disease associated with pancytopenia in Malaysia.

    PubMed

    Rafhati, Abdullah Noor; See, Chee Keong; Hoo, Fan Kee; Badrulnizam, Long Bidin Mohamed

    2014-01-01

    Generally, clinical presentations of Graves' disease range from asymptomatic disease to overt symptomatic hyperthyroidism with heat intolerance, tremor, palpitation, weight loss, and increased appetite. However, atypical presentation of Graves' disease with hematological system involvement, notably pancytopenia, is distinctly uncommon. Hereby, we present and discuss a series of three untreated cases of Graves' disease clinically presented with pancytopenia and the hematological abnormalities that responded well to anti-thyroid treatment. With resolution of the thyrotoxic state, the hematological parameters improved simultaneously. Thus, it is crucial that anti-thyroid treatment be considered in patients with Graves' disease and pancytopenia after a thorough hematological evaluation.

  10. Familial psychiatric presentation of Huntington's disease.

    PubMed Central

    Lovestone, S; Hodgson, S; Sham, P; Differ, A M; Levy, R

    1996-01-01

    Symptoms of schizophrenia may be encountered in Huntington's disease (HD) but usually when the full clinical syndrome is apparent; prechoreic psychosis is relatively uncommon. We describe a family where all four members affected with HD presented first with a severe psychiatric syndrome, which in three cases was schizophreniform in nature. Two other living members with no current signs of motor disorder have received psychiatric treatment, one for schizophrenia. Concurrence of psychosis and Huntington's disease in this family is unlikely to have occurred by chance, suggesting that there is some feature in this family which gives rise to the psychotic presentation. Families such as this may contribute to the investigation of genetic factors associated with psychiatric illnesses. Images PMID:8929949

  11. [Mucha-Habermann disease and orthotopic heart transplant. Case report].

    PubMed

    Zetina-Tun, Hugo; de la Cerda-Belmont, Gustavo Armando; Lezama-Urtecho, Carlos Alberto; Careaga-Reyna, Guillermo

    2013-01-01

    Mucha-Habermann disease is a cutaneous clinical manifestation of unknown etiology that frequently appears in young patients. The aim was to present Mucha-Habermann disease that occurred in an old man who had a heart transplant. a 62 year-old male, heart transplant recipient, who four years after that transplantation procedure presented with papular lesions in neck, thoracic members of which extended to all body surfaces and that evolved vesicles and pustular lesions. A skin biopsy was performed and Mucha-Habermann disease was diagnosed. The patient was treated with steroids and antimicrobial therapy with favorable response. After two years there are no skin lesions. Mucha-Habermann disease is a low frequency disease and it requires skin biopsy to confirm diagnose. This is an uncommon case due to the age and kind of patient.

  12. Fatigue Stress Fracture of the Talar Body: An Uncommon Cause of Ankle Pain.

    PubMed

    Kim, Young Sung; Lee, Ho Min; Kim, Jong Pil; Moon, Han Sol

    2016-01-01

    Fatigue stress fractures of the talus are rare and usually involve the head of the talus in military recruits. We report an uncommon cause of ankle pain due to a fatigue stress fracture of the body of the talus in a 32-year-old male social soccer player. Healing was achieved after weightbearing suppression for 6 weeks. Although rare, a stress fracture of the body of the talus should be considered in an athlete with a gradual onset of chronic ankle pain. Magnetic resonance imaging and bone scan are useful tools for early diagnosis. Copyright © 2016 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  13. A Case of Scurvy-Uncommon Disease-Presenting as Panniculitis, Purpura, and Oligoarthritis.

    PubMed

    Mintsoulis, Danielle; Milman, Nataliya; Fahim, Simone

    2016-11-01

    Scurvy remains prevalent in certain populations, including addicts, people of low socioeconomic status, and the severely malnourished. It classically presents as follicular hyperkeratosis and perifollicular hemorrhage of the lower extremities, as well as bleeding in other areas such as the gingiva and joints. This case presentation and literature review highlights the common pathophysiological findings associated with scurvy and current methods of diagnosis and treatment. The patient described in this case presented with sudden oligoarthritis and purpura of the lower extremities. Following progression of the patient's symptoms and a low vitamin C serum concentration, the patient was treated with vitamin C supplementation and dramatically improved. This was considered to be the result of an underlying vitamin C deficiency secondary to insufficient fruit and vegetable intake due to allergies. This case highlights the importance of maintaining a high index of suspicion for scurvy in atypical presentations of purpura not better explained by another disease or in additional populations at high risk of vitamin C deficiency. Early diagnosis by either a primary care physician or dermatologist can expedite the treatment process and improve patient prognosis. © The Author(s) 2016.

  14. An experimental and theoretical study to relate uncommon rock/fluid properties to oil recovery. Final report

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Watson, R.

    Waterflooding is the most commonly used secondary oil recovery technique. One of the requirements for understanding waterflood performance is a good knowledge of the basic properties of the reservoir rocks. This study is aimed at correlating rock-pore characteristics to oil recovery from various reservoir rock types and incorporating these properties into empirical models for Predicting oil recovery. For that reason, this report deals with the analyses and interpretation of experimental data collected from core floods and correlated against measurements of absolute permeability, porosity. wettability index, mercury porosimetry properties and irreducible water saturation. The results of the radial-core the radial-core andmore » linear-core flow investigations and the other associated experimental analyses are presented and incorporated into empirical models to improve the predictions of oil recovery resulting from waterflooding, for sandstone and limestone reservoirs. For the radial-core case, the standardized regression model selected, based on a subset of the variables, predicted oil recovery by waterflooding with a standard deviation of 7%. For the linear-core case, separate models are developed using common, uncommon and combination of both types of rock properties. It was observed that residual oil saturation and oil recovery are better predicted with the inclusion of both common and uncommon rock/fluid properties into the predictive models.« less

  15. Castleman's disease associated with a cerebellar chordoid meningioma and intestinal lymphangiectasia.

    PubMed

    Jeon, Chul Jin; Kim, Mi Jin; Lee, Jong Seung; Lee, Ji Hyuk; Kong, Doo-Sik; Shin, Hyung Jin; Suh, Yeon Lim; Kim, Kyoung Mee; Choe, Yon Ho

    2010-11-01

    Castleman's disease (CD) is a rare nonneoplastic lymphoproliferative disorder of unknown etiology. It is characterized by enlarged hyperplastic lymph nodes, usually presenting as a localized mass. Although an intracranial location is very uncommon, it should be considered in the differential diagnosis of a chordoid meningioma. We describe a pediatric case of CD with a cerebellar chordoid meningioma and intestinal lymphangiectasia.

  16. Bilateral Adventitial Cystic Disease of the Popliteal Artery: A Case Report

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Ortiz M, William R.; Lopera, Jorge E., E-mail: Jorge.lopera@utsouthwestern.edu; Gimenez, Carlos R.

    2006-04-15

    Adventitial cystic disease (ACD) of the popliteal artery is an uncommon vascular condition of unknown etiology. In the present case report, we describe a case of bilateral ACD of the popliteal artery in a 58-year-old male. To the best of our knowledge, this is the first case of bilateral ACD of the popliteal artery reported in the literature.

  17. Hypertriglyceridemia Thalassemia Syndrome: Common Disease, Uncommon Association.

    PubMed

    Das, Lipsa; Samprathi, Madhusudan; Shukla, Umesh; Bandyopadhyay, Debapriya; Das, Rashmi Ranjan

    2016-07-01

    Hypertriglyceridemia has been rarely described with thalassemia, an entity called hypertriglyceridemia-thalassemia syndrome. The authors describe a young infant diagnosed with thalassemia major with severe hypertriglyceridemia. The presence of severe hypertriglyceridemia in this child which rapidly resolved after transfusion, probably suggests a self limited mechanism which may not require therapy. Though hypertriglyceridemia has been reported with hemolytic anemias, the mechanism is unclear. This case illustrates that thalassemia may be associated with hypertriglyceridemia; once familial and secondary causes are ruled out, clinicians may wait for spontaneous resolution before considering specific therapy.

  18. Assessment of long-term knowledge retention following single-day simulation training for uncommon but critical obstetrical events

    PubMed Central

    Vadnais, Mary A.; Dodge, Laura E.; Awtrey, Christopher S.; Ricciotti, Hope A.; Golen, Toni H.; Hacker, Michele R.

    2013-01-01

    Objective The objectives were to determine (i) whether simulation training results in short-term and long-term improvement in the management of uncommon but critical obstetrical events and (ii) to determine whether there was additional benefit from annual exposure to the workshop. Methods Physicians completed a pretest to measure knowledge and confidence in the management of eclampsia, shoulder dystocia, postpartum hemorrhage and vacuum-assisted vaginal delivery. They then attended a simulation workshop and immediately completed a posttest. Residents completed the same posttests 4 and 12 months later, and attending physicians completed the posttest at 12 months. Physicians participated in the same simulation workshop 1 year later and then completed a final posttest. Scores were compared using paired t-tests. Results Physicians demonstrated improved knowledge and comfort immediately after simulation. Residents maintained this improvement at 1 year. Attending physicians remained more comfortable managing these scenarios up to 1 year later; however, knowledge retention diminished with time. Repeating the simulation after 1 year brought additional improvement to physicians. Conclusion Simulation training can result in short-term and contribute to long-term improvement in objective measures of knowledge and comfort level in managing uncommon but critical obstetrical events. Repeat exposure to simulation training after 1 year can yield additional benefits. PMID:22191668

  19. Atypical presentation of Wilson disease.

    PubMed

    Wadera, Sheetal; Magid, Margret S; McOmber, Mark; Carpentieri, David; Miloh, Tamir

    2011-08-01

    A 15-year-old Caucasian female on human chorionic gonadotropin (HCG) diet presented with fever, cholestasis, coagulopathy, hemolytic anemia, and acute renal dysfunction. Imaging of the biliary system and liver were normal. She responded to intravenous antibiotics, vitamin K and blood transfusions but experienced relapse upon discontinuation of antibiotics. She had remission with reinstitution of antibiotics. Liver biopsy revealed pronounced bile ductular reaction, bridging fibrosis, and hepatocytic anisocytosis and anisonucleosis with degenerative enlarged eosinophilic hepatocytes, suggestive of Wilson disease. Diagnosis of Wilson disease was further established based on the low serum ceruloplasmin, increased urinary and hepatic copper and presence of Kayser-Fleischer rings. The multisystem involvement of the liver, kidney, blood, and brain are consistent with Wilson disease; however, the clinical presentation of cholangitis and reversible coagulopathy is uncommon, and may result from concurrent acute cholangitis and/or the HCG diet regimen the patient was on. © Thieme Medical Publishers.

  20. Selective common and uncommon imaging manifestations of blunt nonaortic chest trauma: when time is of the essence.

    PubMed

    Altoos, Rola; Carr, Robert; Chung, Jonathan; Stern, Eric; Nevrekar, Dipti

    2015-01-01

    This is a pictorial essay in which we review and illustrate a variety of thoracic injuries related to blunt trauma. Non-aortic blunt thoracic trauma can be divided anatomically into injuries of the chest wall, lungs, pleura, mediastinum, and diaphragm. Some injuries involve more than one anatomic compartment, and multiple injuries commonly coexist. This article provides common imaging findings and discussion of both common and uncommon but critical thoracic injuries encountered. Published by Elsevier Inc.

  1. The betaine profile of cereal flours unveils new and uncommon betaines.

    PubMed

    Servillo, Luigi; D'Onofrio, Nunzia; Giovane, Alfonso; Casale, Rosario; Cautela, Domenico; Ferrari, Giovanna; Castaldo, Domenico; Balestrieri, Maria Luisa

    2018-01-15

    We report the LC-ESI-MS/MS determination of betaines in commercial flours of cereals and pseudocereals most utilized in human nutrition. Results showed that glycine betaine, trigonelline, proline betaine, N ε -trimethyllysine were metabolites common to all examined flours, whereas an uncommon betaine, valine betaine, and glutamine betaine were present only in flours of barley, rye, oat, durum wheat, winter wheat, Triticum dicoccum and Triticum monococcum. Valine betaine and glutamine betaine, the latter never reported before in plants and animals, are not evenly distributed in the Poaceae family, but their presence or absence in flours depends on the subfamily to which the plant belongs. Interestingly, we also report for the first time the occurrence of pipecolic acid betaine (homostachydrine) and its precursor 1,2-N-methylpipecolic acid in rye flour. These two metabolites were not detected in any other cereal or pseudocereal flour, suggesting their potential role as markers of rye flour occurrence in cereal-based foods. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Languages of Southeast Asia and the Pacific. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Southeast Asia and the Pacific. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult…

  3. Expansion of chemical space for natural products by uncommon P450 reactions.

    PubMed

    Zhang, Xingwang; Li, Shengying

    2017-08-30

    Covering: 2000 to 2017Cytochrome P450 enzymes (P450s) are the most versatile biocatalysts in nature. The catalytic competence of these extraordinary hemoproteins is broadly harnessed by numerous chemical defenders such as bacteria, fungi, and plants for the generation of diverse and complex natural products. Rather than the common tailoring reactions (e.g. hydroxylation and epoxidation) mediated by the majority of biosynthetic P450s, in this review, we will focus on the unusual P450 enzymes in relation to new chemistry, skeleton construction, and structure re-shaping via their own unique catalytic power or the intriguing protein-protein interactions between P450s and other proteins. These uncommon P450 reactions lead to a higher level of chemical space expansion for natural products, through which a broader spectrum of bioactivities can be gained by the host organisms.

  4. Chylous ascites in a cheetah (Acinonyx jubatus) with venoocclusive liver disease.

    PubMed

    Terrell, Scott P; Fontenot, Deidre K; Miller, Michele A; Weber, Martha A

    2003-12-01

    An 11-yr-old female cheetah (Acinonyx jubatus) was diagnosed clinically with hepatic and renal disease and euthanatized after an extended illness. Postmortem examination revealed 8-10 L of milky white fluid in the abdominal cavity and markedly dilated lymphatic vessels within the intestinal mesentery. The abdominal fluid was a chylous effusion based on the cytologic predominance of lymphocytes and macrophages and comparison of cholesterol and triglyceride levels in the fluid and in serum. Gross and histopathologic lesions in the liver were consistent with a diagnosis of venoocclusive liver disease. Chylous ascites is uncommon with human chronic liver disease and is rarely identified in animals.

  5. Donation, Not Disease! A Multiple-Hit Hypothesis on Development of Post-Donation Kidney Disease.

    PubMed

    Cheng, Xingxing S; Glassock, Richard J; Lentine, Krista L; Chertow, Glenn M; Tan, Jane C

    2017-01-01

    The risks following living kidney donation has been the subject of rigorous investigation in the past several decades. How to utilize the burgeoning new knowledge base to better the risk assessment, education, and health maintenance of donors is unclear. We review the physiologic and epidemiologic evidences on the post-donation state and submit a multiple-hit hypothesis to reconcile the finite elevation in risk of kidney disease after donation with the benign course of most kidney donors. The risk of end-stage kidney disease is higher in kidney donors compared to similarly healthy non-kidney donors. Nonetheless, post-donation kidney disease is uncommon and arises mostly in the setting of other "hits"-either a "first hit" present at birth or a "second hit" acquired later in life. The transplant community's focus should be directed toward (1) personalized risk assessment to inform consent before donation and (2) preventing and treating development of "second hits" following kidney donation.

  6. Unusual Onset of Celiac Disease and Addison's Disease in a 12-Year-Old Boy.

    PubMed

    Miconi, Francesco; Savarese, Emanuela; Miconi, Giovanni; Cabiati, Gabriele; Rapaccini, Valentina; Principi, Nicola; Esposito, Susanna

    2017-07-29

    Celiac disease (CD) is an autoimmune disorder deriving from an aberrant adaptive immune response against gluten-containing grains in genetically predisposed subjects. In a number of patients, CD is associated with one or more other autoimmune diseases. Primary Addison's disease (AD) and CD may co-exist, although this association is relatively uncommon in children. In addition, it is not precisely defined whether a gluten-free diet influences the course of AD. A case of CD in a 12-year-old boy presenting as acute adrenal insufficiency is described here. A gluten-free diet had a significant therapeutic role in this case, wherein most of the clinical signs and symptoms of AD disappeared in a few days. In addition, the dosage of cortisol acetate, initially administered to treat the AD, was able to be rapidly reduced. This case highlights that CD can be associated with AD in children, and a gluten-free diet seems to positively influence the course of AD.

  7. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

    PubMed

    Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

  8. Hydatid disease in childhood: revisited report of an interesting case.

    PubMed

    Jairajpuri, Zeeba Shamim; Jetley, Sujata; Hassan, Md Jaseem; Hussain, Musharraf

    2012-10-01

    Hydatid disease is a zoonosis caused by the tapeworm of Echinococcus spp. The disease is widely endemic in many sheep and cattle rearing locales. However, hydatidosis does not remain restricted to endemic geographical locales anymore but rather is a global health concern. It is a major public health burden causing significant morbidity and mortality. Echinococcus granulosus involvement in children has a different pattern than adults. Children of all age groups are susceptible and localization of the disease in the lungs is more commonly seen. Multiple liver cysts in the paediatric age group is relatively uncommon. We report an interesting case of multiple liver cysts in a 5-year old boy which was diagnosed as hydatid cysts on histopathological examination.

  9. Real-Time Assessment of Wellness and Disease in Daily Life.

    PubMed

    Ausiello, Dennis; Lipnick, Scott

    2015-09-01

    The next frontier in medicine involves better quantifying human traits, known as "phenotypes." Biological markers have been directly associated with disease risks, but poor measurement of behaviors such as diet and exercise limits our understanding of preventive measures. By joining together an uncommonly wide range of disciplines and expertise, the Kavli HUMAN Project will advance measurement of behavioral phenotypes, as well as environmental factors that impact behavior. By following the same individuals over time, KHP will liberate new understanding of dynamic links between behavioral phenotypes, disease, and the broader environment. As KHP advances understanding of the bio-behavioral complex, it will seed new approaches to the diagnosis, prevention, and treatment of human disease.

  10. Ischemic duodenal ulcer, an unusual presentation of sickle cell disease.

    PubMed

    Julka, Rahul N; Aduli, Farshad; Lamps, Laura W; Olden, Kevin W

    2008-03-01

    Sickle cell disease is caused by molecular abnormalities in the formation of hemoglobin, leading to pain crisis from recurrent vascular occlusion by sickled hemoglobin. Impaired flow in the microvasculature can lead to ischemia, tissue infarction and ulceration. Abdominal pain, a common complaint in sickle cell disease, can be due to an uncommon etiology, ischemic duodenal ulceration. This is due to primary mucosal infarction caused by sickling, leading to poor healing of infarcted areas. Prompt endoscopic and/or urgent surgical intervention should be considered, particularly if anticoagulation is an issue, as proton pump inhibitor use is ineffective in healing this type of ulcer.

  11. Treatment of uncommon sites of focal primary hyperhidrosis: experience with pharmacological therapy using oxybutynin

    PubMed Central

    Teivelis, Marcelo Passos; Wolosker, Nelson; Krutman, Mariana; Kauffman, Paulo; de Campos, José Ribas Milanez; Puech-Leão, Pedro

    2014-01-01

    OBJECTIVES: Primary hyperhidrosis usually affects the hands, armpits, feet and cranio-facial region. Sweating in other areas is common in secondary hyperhidrosis (after surgery or in specific clinical conditions). Oxybutynin has provided good results and is an alternative for treating hyperhidrosis at common sites. Our aim was to evaluate the efficacy of oxybutynin as a treatment for primary sweating at uncommon sites (e.g., the back and groin). METHODS: This retrospective study analyzed 20 patients (10 females) who received oxybutynin for primary focal hyperhidrosis at uncommon sites. The subjects were evaluated to determine quality of life before beginning oxybutynin and six weeks afterward and they were assigned grades (on a scale from 0 to 10) to measure their improvement at each site of excessive sweating after six weeks and at the last consult. RESULTS: The median follow-up time with oxybutynin was 385 days (133-1526 days). The most common sites were the back (n = 7) and groin (n = 5). After six weeks, the quality of life improved in 85% of the subjects. Dry mouth was very common and was reported by 16 patients, 12 of whom reported moderate/severe dry mouth. Five patients stopped treatment (two: unbearable dry mouth, two: excessive somnolence and one: palpitations). At the last visit, 80% of patients presented with moderate/great improvement at the main sites of sweating. CONCLUSION: After six weeks, more than 80% of the patients presented with improvements in their overall quality of life and at the most important site of sweating. Side effects were common (80% reported at least one side effect) and caused 25% of the patients to discontinue treatment. Oxybutynin is effective for treating bothersome hyperhidrosis, even at atypical locations and most patients cope well with the side effects. PMID:25318092

  12. Dengue eye disease.

    PubMed

    Ng, Aaron W; Teoh, Stephen C

    2015-01-01

    Dengue fever, a viral disease epidemic in some parts of the world, is of considerable international concern, with a growing incidence owing to developing urbanization, tourism, and trade. Ocular manifestations of dengue fever are uncommon, but of great significance. Proposed mechanisms include direct viral infection as well as immunologic phenomena. Common manifestations include subconjunctival, vitreous, and retinal hemorrhages; posterior uveitis; optic neuritis; and maculopathies such as foveolitis, hemorrhage, and edema. Main symptoms include blurring of vision, scotomata, metamorphopsia, and floaters. Diagnostic and monitoring investigations described included optical coherence tomography, fundus fluorescein and indocyanine green angiography, visual field analysis, and electrophysiologic tests. Management is based on clinical presentation and includes active surveillance as well as various anti-inflammatory and immunosuppressive therapies. There have been no prospective, randomized therapeutic trials, and it is unclear if the disease is self-limiting or if treatment is actually beneficial. Prognosis varies, ranging from full resolution to permanent vision loss despite intervention. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Diffuse Parenchymal Diseases Associated With Aluminum Use and Primary Aluminum Production

    PubMed Central

    2014-01-01

    Aluminum use and primary aluminum production results in the generation of various particles, fumes, gases, and airborne materials with the potential for inducing a wide range of lung pathology. Nevertheless, the presence of diffuse parenchymal or interstitial lung disease related to these processes remains controversial. The relatively uncommon occurrence of interstitial lung diseases in aluminum-exposed workers—despite the extensive industrial use of aluminum—the potential for concurrent exposure to other fibrogenic fibers, and the previous use of inhaled aluminum powder for the prevention of silicosis without apparent adverse respiratory effects are some of the reasons for this continuing controversy. Specific aluminum-induced parenchymal diseases described in the literature, including existing evidence of interstitial lung diseases, associated with primary aluminum production are reviewed. PMID:24806728

  14. Laparoscopic Pancreaticoduodenectomy for the Management of Localized Crohn's Disease of the Duodenum.

    PubMed

    Xingjun, Guo; Feng, Zhu; Min, Wang; Renyi, Qin

    2016-08-01

    Crohn's disease of the duodenum is an uncommon condition. Our case was an extremely rare manifestation of Crohn's disease, who presented with obstruction of the pylorus and the first and the second parts of the duodenum. Because of the severity of the obstruction, he underwent laparoscopic pancreaticoduodenectomy. Postoperative pancreatic leakage and bowel fistula were not observed, and there was no morbidity during the follow-up period. There was also no disturbance in digestive function, postoperatively. This is the first case employing laparoscopic pancreaticoduodenectomy to cure benign lesions leading to duodenal obstruction. Minimally invasive laparoscopic pancreaticoduodenectomy technology shows a very big advantage in treating this rare benign Crohn's disease.

  15. [Thyroid cancer in patients with Grave's Disease].

    PubMed

    Mssrouri, R; Benamr, S; Essadel, A; Mdaghri, J; Mohammadine, El H; Lahlou, M-K; Taghy, A; Belmahi, A; Chad, B

    2008-01-01

    To evaluate the incidence of thyroid carcinoma in patients operated on for Graves' disease, to identify criteria which may predict malignancy, and to develop a practical approach to determine the extensiveness of thyroidectomy. Retrospective study of all patients who underwent thyroidectomy for Graves' disease between 1995 and 2005. 547 patients underwent subtotal thyroidectomy for Graves' disease during this period. Post-operative pathology examination revealed six cases of thyroid cancer (1.1%). All six cases had differentiated thyroid carcinoma (papillary carcinoma in 3 cases, follicular carcinoma in 2 cases and papillo-follicular carcinoma in 1 case). The indication for initial thyroidectomy was a palpable thyroid nodule in 3 cases (50%), failure of medical treatment for Grave's disease in 2 cases (33%), and signs of goiter compression in 1 case (17%). Five patients underwent re-operative total thyroidectomy. This study shows that while malignancy in Grave's disease is uncommon, the presence of thyroid nodule(s) in patients with Grave's disease may be considered as an indication for radical surgery. The most adequate radical surgery in this situation is to perform a total thyroidectomy.

  16. Languages of the Middle East and North Africa. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of the Middle East and North Africa. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult…

  17. Personality profile and affective state of patients with inflammatory bowel disease.

    PubMed Central

    Robertson, D A; Ray, J; Diamond, I; Edwards, J G

    1989-01-01

    The Eysenck Personality Inventory and Hospital Anxiety and Depression scale were administered to 80 patients undergoing medical treatment for long standing inflammatory bowel disease: 22 patients were studied before the diagnosis was established and 40 patients with diabetes mellitus served as controls. High neuroticism and introversion scores were more prevalent in the patients with inflammatory bowel disease than controls (p less than 0.05) and these characteristics were as prominent in patients before diagnosis as in established cases. Introversion scores increased with the duration of disease (r = 0.51). Depression was uncommon, occurring only in patients with active chronic disease. Patients believed there was a close link between personality, stress and disease activity. Fifty six of the patients recognised factors that initiated the disease and in 42 this was thought to be a stressful life event or a 'nervous personality'. PMID:2731754

  18. Anterior urethral valves: an uncommon cause of obstructive uropathy in children.

    PubMed

    Kibar, Yusuf; Coban, Hidayet; Irkilata, H Cem; Erdemir, Fikret; Seckin, Bedrettin; Dayanc, Murat

    2007-10-01

    Anterior urethral valves (AUV) are rare entities generally described in case reports. They are an uncommon cause of lower urinary tract obstruction in children and can be difficult to diagnose. In the present study, we present our experience in four children with AUV along with a literature review. We retrospectively identified four children with AUV presented between 1998 and 2005 at age 4-9 years. Hematuria, urinary tract infection and weak voiding stream were the most common symptoms. Voiding cystourethrography (VCUG) confirmed the diagnosis of AUV. On cystourethroscopy, cusp-like valves in the anterior urethra were seen in all children. Transurethral endoscopic resection of the valves was carried out in three children using a pediatric resectoscope. In one child with a massive anterior urethral diverticulum, open resection of the valve, diverticulectomy and urethroplasty were performed. All patients were cured, none had complications as a result of surgery, and all reported a normal urinary stream at follow-up. Children with poor stream and recurrent infections should be evaluated carefully and anterior urethral valves should be considered in differential diagnosis of obstructive lesions.

  19. Takayasu arteritis in childhood: misdiagnoses at disease onset and associated diseases.

    PubMed

    Clemente, Gleice; Silva, Clovis A; Sacchetti, Silvana B; Ferriani, Virginia P L; Oliveira, Sheila K; Sztajnbok, Flavio; Bica, Blanca E R G; Cavalcanti, André; Robazzi, Teresa; Bandeira, Marcia; Terreri, Maria Teresa

    2018-06-01

    Juvenile-Takayasu arteritis (j-TA) is a difficult diagnosis and some patients develop uncommon manifestations and associated diseases that may contribute to the delayed diagnosis. Our aim was to identify the misdiagnoses, the associated diseases and the atypical manifestations observed in a j-TA Brazilian multicentre study. 71 children and adolescents who met the classification criteria for j-TA were included. The misdiagnoses, the associated diseases and the atypical manifestations were evaluated. 19 (26.8%) patients had misdiagnoses. The most common of them was aortic coarctation in six (8.4%) patients, followed by rheumatic fever in five (7.0%) and one patient presented with both former diagnoses. Limb pain (two patients), spondyloarthropathy, juvenile idiopathic arthritis (JIA), spinal arteriovenous malformation, polyarteritis nodosa (PAN) and fever of unknown origin (FUO) were other misdiagnoses. Patients who had misdiagnoses previously to j-TA diagnosis presented a trend to have a longer diagnosis delay. 11 (15.5%) patients had 14 TA-associated diseases, such as pulmonary tuberculosis (5 patients), rheumatic fever (2 patients), spondyloarthropathy, polyarticular JIA, Crohn's disease, Prader-Willi disease, diabetes mellitus, Moyamoya and primary immunodeficiency. 7 (9.9%) patients presented 10 atypical manifestations, such as pyoderma gangrenosum, erythema nodosum, myositis, chorea, enthesitis, episcleritis, uveitis, hepatomegaly, splenomegaly and necrosis of extremities. Our study emphasizes the main misdiagnoses, associated diseases and atypical manifestations that occur in patients with j-TA and warns of the features that may alert paediatricians to this diagnosis, such as constitutional symptoms and elevated inflammatory markers.

  20. Giant pseudoaneurysm of the left ventricular outflow tract: a rare disease.

    PubMed

    Acioli Pereira, Larissa; Fontes Gontijo, Paula; Alcântara Farran, Jorge; Palandri Chagas, Antonio Carlos; Romano, Edson Renato; Bento de Souza, Luis Carlos

    2013-06-01

    Pseudoaneurysm of the left ventricular outflow tract (LVOT) is a rare disease with high morbidity and mortality, resulting from left ventricular damage due to myocardial infarction, infective endocarditis or surgical trauma. A case of giant pseudoaneurysm of the LVOT, even more rarely reported in the literature, is described. The lesion was detected 12 years after aortic valve replacement for infective endocarditis in a young patient, a former intravenous drug user. As it is an uncommon disease, little is known about its clinical presentation and treatment. Copyright © 2011 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  1. A messenger at the door: cytomegalovirus retinitis in myeloma patients with progressive disease.

    PubMed

    Teh, B W; Khot, A S; Harrison, S J; Prince, H M; Slavin, M A

    2013-08-01

    Cytomegalovirus (CMV) retinitis is an uncommon manifestation of CMV disease and is a marker of severe and profound immunosuppression in human immunodeficiency virus-positive patients. Here, we describe 2 cases of CMV retinitis in myeloma patients with progressive disease, following autologous stem cell transplantation and immunomodulatory therapy for myeloma. To our knowledge, this is the first report of CMV retinitis in this patient population. This report illustrates the need for close monitoring of relapsed and refractory myeloma patients for new presentations of opportunistic infections secondary to severe immunosuppression. © 2013 John Wiley & Sons A/S.

  2. The increasing hospital disease burden of haemochromatosis in England.

    PubMed

    Cowan, M L; Westlake, S; Thomson, S J; Rahman, T M; Majeed, A; Maxwell, J D; Kang, J-Y

    2010-01-15

    Hereditary haemochromatosis is a preventable cause of liver disease with an increasing disease burden. To investigate time trends for hospital admission ascribed to haemochromatosis in England during the period from 1989/1990 to 2002/2003 and mortality from 1979 to 2005. Hospital admission data, relating to both in-patients and day-cases, were obtained from the Hospital Episodes Statistics service. Mortality rates for England and Wales were provided by the Office for National Statistics. Haemochromatosis is an uncommon cause for hospital admission. Age-standardized in-patient admission rates increased over the study period by 269% in men and by 290% in women: (from 0.64 to 2.36 and from 0.21 to 0.81 per year per 100 000). The increase in age-standardized day-case admission rates was even higher (men: from 2.78 to 34.9 per year per 100 000, 1155%; women: from 0.58 to 11.67 per year per 100 000, 1924%). Haemochromatosis was recorded as an uncommon cause of death. Hospital in-patient and day case admissions for haemochromatosis increased markedly over the study period while mortality remained low. Both admission rates and mortality were higher in men than in women. The increase in admission rate may reflect improved recognition and diagnosis of iron overload disorders following identification of the HFE gene.

  3. Emerging infectious diseases with cutaneous manifestations: Viral and bacterial infections.

    PubMed

    Nawas, Zeena Y; Tong, Yun; Kollipara, Ramya; Peranteau, Andrew J; Woc-Colburn, Laila; Yan, Albert C; Lupi, Omar; Tyring, Stephen K

    2016-07-01

    Given increased international travel, immigration, and climate change, bacterial and viral infections that were once unrecognized or uncommon are being seen more frequently in the Western Hemisphere. A delay in diagnosis and treatment of these diseases can lead to significant patient morbidity and mortality. However, the diagnosis and management of these infections is fraught with a lack of consistency because there is a dearth of dermatology literature on the cutaneous manifestations of these infections. We review the epidemiology, cutaneous manifestations, diagnosis, and management of these emerging bacterial and viral diseases. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  4. [Non-Helicobacter pylori, Non-nonsteroidal Anti-inflammatory Drug Peptic Ulcer Disease].

    PubMed

    Chang, Young Woon

    2016-06-25

    Non-Helicobacter pylori, non-NSAID peptic ulcer disease (PUD), termed idiopathic PUD, is increasing in Korea. Diagnosis is based on exclusion of common causes such as H. pylori infection, infection with other pathogens, surreptitious ulcerogenic drugs, malignancy, and uncommon systemic diseases with upper gastrointestinal manifestations. The clinical course of idiopathic PUD is delayed ulcer healing, higher recurrence, higher re-bleeding after initial ulcer healing, and higher mortality than the other types of PUD. Genetic predisposition, older age, chronic mesenteric ischemia, cigarette smoking, concomitant systemic diseases, and psychological stress are considered risk factors for idiopathic PUD. Diagnosis of idiopathic PUD should systematically explore all possible causes. Management of this disease is to treat underlying disease followed by regular endoscopic surveillance to confirm ulcer healing. Continuous proton pump inhibitor therapy is an option for patients who respond poorly to the standard ulcer regimen.

  5. Castleman's disease presenting as a pleural tumor: a case report with CT findings.

    PubMed

    Doo, Kyung Won; Kim, Bomi

    2018-02-01

    Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder which most commonly involves the mediastinum but rarely affects the pleura. We report a case of unicentric CD that presents as a pleural mass in a 45-year-old man, which was subsequently resected followed by an unexpected diagnosis on histologic examination. Although rare, CD should be included in the differential diagnosis of well-enhancing pleural mass.

  6. Detection of Coxiella Burnetii (Q fever) and Borrelia Burgdorferi (Lyme Disease) in Field-Collected Ticks from the Cayo District of Belize, Central America

    DTIC Science & Technology

    2016-03-25

    humans is uncommon, a documented case of crushing an infected tick between the fingers resulted in a Q fever infection [14]. Most human 2...fluid [1,43,49,57]. In humans, presentation of Q fever ranges from asymptomatic, to acute disease, to chronic illness. In the majority of cases ...acute disease presents as a self-limiting febrile illness with half of cases suffering severe headaches. In severe cases of acute disease, atypical

  7. Recurrent intracranial Rosai-Dorfman disease: Management of a challenging case.

    PubMed

    Das, Sudeep; Biswas, Ahitagni; Roy, Soumyajit; Sable, Mukund N; Singh, Daljit; Jana, Manisha; Sharma, Mehar Chand; Julka, Pramod Kumar

    2017-01-01

    Rosai-Dorfman disease (RDD) is a rare, idiopathic, benign histioproliferative disorder. Extranodal involvement is seen in around 25-40% of patients. Central nervous system manifestation of RDD is uncommon and suprasellar location of the lesion is a distinct rarity. Surgery is the cornerstone of management of intracranial RDD. However, tumor recurrence or regrowth is a potential problem. Hence, low dose conformal radiotherapy (RT) should be considered in patients undergoing sub-total resection or having unresectable recurrent disease. Though cranial RT usually leads to satisfactory improvement of symptoms and long-term disease stabilization or regression, in few patients there may be an eventual progression of disease for which systemic chemotherapy may be considered. We have highlighted the salient features of this enigmatic disease by citing a case of a 50-year-old male patient with suprasellar RDD treated by maximal safe surgery and deferred radiation therapy on progression.

  8. Prevalence of celiac disease among first-degree relatives of Indian celiac disease patients.

    PubMed

    Mishra, Asha; Prakash, Shyam; Kaur, Gurvinder; Sreenivas, Vishnubhatla; Ahuja, Vineet; Gupta, Siddhartha Datta; Makharia, Govind K

    2016-03-01

    Celiac disease, once thought to be uncommon in Asia, is now recognized in Asian nations as well. We investigated the prevalence of celiac disease in first-degree relatives of celiac disease patients followed in our centre. First-degree relatives were screened prospectively for celiac disease using questionnaire-based interview and anti-tissue transglutaminase antibody. Serology positive first-degree relatives underwent duodenal biopsies. Diagnosis of celiac disease was made based on positive serology and villous abnormality Marsh grade 2 or higher. Human leucocyte antigen DQ2/-DQ8 was also assessed in 127 first-degree relatives. 434 first-degree relatives of 176 celiac disease patients were prospectively recruited; 282 were symptomatic (64.9%), 58 were positive for serology (13.3%). Seroprevalence was higher in female than in males (19% vs 8.5%; p=0.001) and highest in siblings (16.9%) than parents (13.6%) and children (5.9%) of celiac patients (p=0.055); 87.4% first-degree relatives were human leucocyte antigen-DQ2/-DQ8 positive. Overall prevalence of celiac disease was 10.9% amongst first-degree relatives. The prevalence of celiac disease in first-degree relatives of celiac disease patients was 10.9% in our cohort, and 87% had human leucocyte antigen-DQ2 or -DQ8 haplotype. All first-degree relatives of celiac disease patients should be screen for celiac disease even if asymptomatic or with atypical manifestations. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  9. From past sailors’ eras to the present day: scurvy as a surprising manifestation of an uncommon gastrointestinal disease

    PubMed Central

    Branquinho, Diogo Ferreira; Pinto-Gouveia, Miguel; Mendes, Sofia; Sofia, Carlos

    2015-01-01

    A 45-year-old man presented with follicular exanthema in his lower limbs, alternating bowel habits and significant weight loss. His medical history included seronegative arthritis, bipolar disease and an inconclusive diagnostic laparoscopy. Diagnostic work up revealed microcytic anaemia and multivitamin deficiency. Skin biopsy of the exanthema suggested scurvy. Owing to these signs of malabsorption, upper endoscopy with duodenal biopsies was performed, exhibiting villous atrophy and extensive periodic acid-Schiff-positive material in the lamina propria, therefore diagnosing Whipple's disease (WD). After starting treatment with ceftriaxone and co-trimoxazole, an impressive recovery was noted, as the wide spectrum of malabsorption signs quickly disappeared. After a year of antibiotics, articular and cutaneous manifestations improved, allowing the patient to stop taking corticosteroids and antidepressants. This truly unusual presentation reflects the multisystemic nature of WD, often leading to misdiagnosis of other entities. Scurvy is a rare finding in developed countries, but its presence should raise suspicion for small bowel disease. PMID:26376699

  10. Inflammatory bowel disease in children of middle eastern descent.

    PubMed

    Naidoo, Christina Mai Ying; Leach, Steven T; Day, Andrew S; Lemberg, Daniel A

    2014-01-01

    Increasing rates of inflammatory bowel disease (IBD) are now seen in populations where it was once uncommon. The pattern of IBD in children of Middle Eastern descent in Australia has never been reported. This study aimed to investigate the burden of IBD in children of Middle Eastern descent at the Sydney Children's Hospital, Randwick (SCHR). The SCHR IBD database was used to identify patients of self-reported Middle Eastern ethnicity diagnosed between 1987 and 2011. Demographic, diagnosis, and management data was collected for all Middle Eastern children and an age and gender matched non-Middle Eastern IBD control group. Twenty-four patients of Middle Eastern descent were identified. Middle Eastern Crohn's disease patients had higher disease activity at diagnosis, higher use of thiopurines, and less restricted colonic disease than controls. Although there were limitations with this dataset, we estimated a higher prevalence of IBD in Middle Eastern children and they had a different disease phenotype and behavior compared to the control group, with less disease restricted to the colon and likely a more active disease course.

  11. Inflammatory Bowel Disease in Children of Middle Eastern Descent

    PubMed Central

    Naidoo, Christina Mai Ying; Leach, Steven T.; Day, Andrew S.; Lemberg, Daniel A.

    2014-01-01

    Increasing rates of inflammatory bowel disease (IBD) are now seen in populations where it was once uncommon. The pattern of IBD in children of Middle Eastern descent in Australia has never been reported. This study aimed to investigate the burden of IBD in children of Middle Eastern descent at the Sydney Children's Hospital, Randwick (SCHR). The SCHR IBD database was used to identify patients of self-reported Middle Eastern ethnicity diagnosed between 1987 and 2011. Demographic, diagnosis, and management data was collected for all Middle Eastern children and an age and gender matched non-Middle Eastern IBD control group. Twenty-four patients of Middle Eastern descent were identified. Middle Eastern Crohn's disease patients had higher disease activity at diagnosis, higher use of thiopurines, and less restricted colonic disease than controls. Although there were limitations with this dataset, we estimated a higher prevalence of IBD in Middle Eastern children and they had a different disease phenotype and behavior compared to the control group, with less disease restricted to the colon and likely a more active disease course. PMID:24987422

  12. Small cell carcinoma of the prostate presenting with Cushing Syndrome. A narrative review of an uncommon condition.

    PubMed

    Rueda-Camino, José Antonio; Losada-Vila, Beatriz; De Ancos-Aracil, Cristina Lucía; Rodríguez-Lajusticia, Laura; Tardío, Juan Carlos; Zapatero-Gaviria, Antonio

    2016-01-01

    Small cell carcinoma (SCC) of the prostate is an uncommon condition; there are very few cases in which presenting symptoms are consistent with Cushing Syndrome (CS). We report a new case in which CS triggers the suspicion of an SCC of the prostate and a review of the published cases of SCC of the prostate presenting with CS. The origin of these neoplasms is still unclear. It may be suspected when laboratory features appear in patients diagnosed with prostatic adenocarcinoma which becomes resistant to specific therapy. SCC usually occurs after the 6th decade. Patients suffering SCC of the prostate presenting with CS usually present symptoms such as hypertension, hyperglycemia, alkalosis or hypokalemia; cushingoid phenotype is less frequent. Cortisol and ACTH levels are often high. Prostatic-specific antigen levels are usually normal. CT scan is the preferred imaging test to localize the lesion, but its performance may be improved by adding other tests, such as FDG-PET scan. All patients have metastatic disease at the time of diagnosis. Lymph nodes, liver and bone are the most frequent metastases sites. Surgery and Ketokonazole are the preferred treatments for CS. The prognosis is very poor: 2- and 5-year survival rates are 27.5 and 14.3%, respectively. Key messages When a patient presents with ectopic Cushing Syndrome but lungs are normal, an atypical localization should be suspected. We should suspect a prostatic origin if Cushing Syndrome is accompanied by obstructive inferior urinary tract symptoms or in the setting of a prostatic adenocarcinoma with rapid clinical and radiological progression with relatively low PSA levels. Although no imaging test is preferred to localize these tumors, FDG-PET-TC can be very useful. Hormone marker scintigraphy (e.g. somatostatin) could be used too. As Cushing Syndrome is a paraneoplastic phenomenon, treatment of the underlying disease may help control hypercortisolism manifestations. These tumors are usually metastatic by the

  13. Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.

    PubMed

    Grosse, Scott D; Gurrin, Lyle C; Bertalli, Nadine A; Allen, Katrina J

    2018-04-01

    Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade testing of first-degree relatives of patients is widely endorsed. We contend that severe liver disease (cirrhosis or hepatocellular cancer) is not at all uncommon among older males with hereditary hemochromatosis. Our review of the published data from a variety of empirical sources indicates that roughly 1 in 10 male HFE C282Y homozygotes is likely to develop severe liver disease during his lifetime unless iron overload is detected early and treated. New evidence from a randomized controlled trial of treatment allows for evidence-based management of presymptomatic patients. Although population screening for HFE C282Y homozygosity faces multiple barriers, a potentially effective strategy for increasing the early detection and prevention of clinical iron overload and severe disease is to include HFE C282Y homozygosity in lists of medically actionable gene variants when reporting the results of genome or exome sequencing.

  14. Threatening auditory hallucinations and Cotard syndrome in Parkinson disease.

    PubMed

    Factor, Stewart A; Molho, Eric S

    2004-01-01

    Psychotic symptoms are commonly reported in patients with Parkinson disease (PD). In particular, patients experience nonthreatening visual hallucinations that can occur with insight (so called hallucinosis) or without. Auditory hallucinations are uncommon, and schizophrenialike symptoms such as pejorative and threatening auditory hallucinations and delusions that are persecutory, referential, somatic, religious, or grandiose have rarely been reported. The authors present 2 PD patients who experienced threatening auditory hallucinations, without visual hallucinations, and schizophrenialike delusions with detailed description of the clinical phenomenology including 1 patient with Cotard syndrome.

  15. Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases

    PubMed Central

    Kingsmore, Stephen

    2012-01-01

    Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently available for only ~300 recessive disorders. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening and molecular diagnostic testing to most recessive disease genes has hitherto been impractical. Recently, we reported a preconception carrier screen / molecular diagnostic test for 448 recessive childhood diseases. The current status of this test is reviewed here. Currently, this reports analytical validity of the comprehensive carrier test. As the clinical validity and clinical utility in the contexts described is ascertained, this article will be updated. PMID:22872815

  16. Vedolizumab for the treatment of ulcerative colitis and Crohn’s disease

    PubMed Central

    McLean, Leon P; Shea-Donohue, Terez; Cross, Raymond K

    2013-01-01

    Crohn’s disease and ulcerative colitis are chronic, relapsing inflammatory disorders of the GI tract. In both Crohn’s disease and ulcerative colitis, leukocytic infiltration of the mucosa is associated with epithelial damage. Recently, monoclonal antibodies directed against cell adhesion molecules (CAMs) involved in leukocyte extravasation have been developed. Natalizumab, the first drug brought to market targeting CAMs, is clinically effective but is associated with serious adverse effects including the uncommon, but often fatal, neurological disease progressive multifocal leukoencephalopathy. Vedolizumab targets a subset of the CAMs blocked by natalizumab and is currently in Phase III trials to study its efficacy and safety in patients with inflammatory bowel disease. Here, we discuss the current treatment options available for patients with Crohn’s disease or ulcerative colitis, the history of CAM inhibitors, the current state of development of vedolizumab and its future role in inflammatory bowel disease, if approved by regulatory agencies. PMID:23046232

  17. Changes in Bacteria Induce Inflammatory Skin Diseases | Center for Cancer Research

    Cancer.gov

    Atopic dermatitis (AD) is a chronic inflammatory skin disease that manifests as dry skin with a relentless itch and eczema. AD is considered an allergic disease in which the skin inflammation manifests in response to chronic exposure to contact allergens. However, identification of a responsible allergen is uncommon. Meanwhile, analyses have demonstrated that the surface of the human body is colonized by large numbers of diverse bacteria. This observation has led researchers to examine the roles these bacteria play in healthy and diseased skin. In a variety of genetic and chronic inflammatory skin diseases, including in patients with AD or with cancer who receive epidermal growth factor receptor (EGFR) inhibitors, Staphylococcus aureus and Corynebacterium species are the predominant bacteria isolated from the skin. However, the cause-and-effect relationship between this microbial imbalance and skin inflammation has not been determined.

  18. Hoverboards: spectrum of injury and association with an uncommon fracture.

    PubMed

    Schapiro, Andrew H; Lall, Neil U; Anton, Christopher G; Trout, Andrew T

    2017-04-01

    Self-balancing electric scooters, commonly known as hoverboards, are a new and popular consumer item with recognized fall hazards. The spectrum of injuries associated with hoverboard use has not been studied. The purpose of this study is to determine the spectrum of radiologically apparent injuries associated with hoverboard use. We retrospectively reviewed all imaging studies interpreted at our institution for hoverboard-related injuries during an 8-month period. We recorded patient demographics and injury characteristics. Thirty-two of the 47 pediatric patients imaged for hoverboard-related injury had radiologically detectable injuries, all fractures. Fifty percent of these 32 patients were female and 50% were male, with a mean age of 12.4 years. There were 42 fractures total, all involving the appendicular skeleton, with 74% in the upper extremities and 26% in the lower extremities. Thirty-eight percent of the fractures involved the physis. A distinct injury pattern was seen in three patients who sustained open distal phalanx juxta-epiphyseal fractures. Most of the fractures sustained during hoverboard use are commonly seen in everyday pediatric radiology practice, with an overall pattern paralleling that reported in association with skateboard use. However an otherwise uncommon fracture, the distal phalanx juxta-epiphyseal fracture, was identified in association with hoverboard use, and this finding has important treatment implications including need for irrigation and debridement, antibiotic therapy, and potential surgical fixation.

  19. Neuropathology of Alzheimer's disease.

    PubMed

    Perl, Daniel P

    2010-01-01

    Alois Alzheimer first pointed out that the disease which would later bear his name has a distinct and recognizable neuropathological substrate. Since then, much has been added to our understanding of the pathological lesions associated with the condition. The 2 primary cardinal lesions associated with Alzheimer's disease are the neurofibrillary tangle and the senile plaque. The neurofibrillary tangle consists of abnormal accumulations of abnormally phosphorylated tau within the perikaryal cytoplasm of certain neurons. The senile plaque consists of a central core of beta-amyloid, a 4-kD peptide, surrounded by abnormally configured neuronal processes or neurites. Other neuropathological lesions are encountered in cases of Alzheimer's disease, but the disease is defined and recognized by these 2 cardinal lesions. Other lesions include poorly understood changes such as granulovacuolar degeneration and eosinophilic rodlike bodies (Hirano bodies). The loss of synaptic components is a change that clearly has a significant impact on cognitive function and represents another important morphological alteration. It is important to recognize that distinguishing between Alzheimer's disease, especially in its early stages, and normal aging may be very difficult, particularly if one is examining the brains of patients who died at an advanced old age. It is also noted that instances of pure forms of Alzheimer's disease, in the absence of other coexistent brain disease processes, such as infarctions or Parkinson's disease-related lesions, are relatively uncommon, and this must be taken into account by researchers who employ postmortem brain tissues for research. (c) 2010 Mount Sinai School of Medicine.

  20. Salivary gland diseases in children

    PubMed Central

    Iro, Heinrich; Zenk, Johannes

    2014-01-01

    Salivary gland diseases in children are rare, apart from viral-induced diseases. Nevertheless, it is essential for the otolaryngologist to recognize these uncommon findings in children and adolescents and to diagnose and initiate the proper treatment. The present work provides an overview of the entire spectrum of congenital and acquired diseases of the salivary glands in childhood and adolescence. The current literature was reviewed and the results discussed and summarized. Besides congenital diseases of the salivary glands in children, the main etiologies of viral and bacterial infections, autoimmune diseases and tumors of the salivary glands were considered. In addition to the known facts, new developments in diagnostics, imaging and therapy, including sialendoscopy in obstructive diseases and chronic recurrent juvenile sialadenitis were taken into account. In addition, systemic causes of salivary gland swelling and the treatment of sialorrhoea were discussed. Although salivary gland diseases in children are usually included in the pathology of the adult, they differ in their incidence and some­times in their symptoms. Clinical diagnostics and especially the surgical treatment are influenced by a stringent indications and a less invasive strategy. Due to the rarity of tumors of the salivary glands in children, it is recommended to treat them in a specialized center with greater surgical experience. Altogether the knowledge of the differential diagnoses in salivary gland diseases in children is important for otolaryngologists, to indicate the proper therapeutic approach. PMID:25587366

  1. Uncommon formation of two antiparallel sperm bundles per cyst in tenebrionid beetles (Coleoptera)

    NASA Astrophysics Data System (ADS)

    Dias, Glenda; Yotoko, Karla S. C.; Gomes, Luiz F.; Lino-Neto, José

    2012-09-01

    Several species of Tenebrionidae are stored-grain pests. Since they belong to a specious family, the systematics of these beetles is still in doubt. In insects, spermatogenesis and the spermatozoa exhibit great diversity, and are therefore commonly used in phylogenetic and taxonomic analyses. During the spermatogenetic process in these organisms, the cells originating from a single spermatogonium develop synchronically in groups referred to as cysts. At the end of this process, there is usually only one sperm bundle per cyst, with all the cells in the same orientation. This paper details the spermiogenesis of the tenebrionid beetles Tenebrio molitor, Zophobas confusa, Tribolium castaneum and Palembus dermestoides using whole mount and histological sections of the cysts. In these species, spermatogenesis is similar to that which occurs in most insects. However, during spermiogenesis, the nuclei of the spermatids migrate to two opposite regions at the periphery of the cyst, leading to the uncommon formation of two bundles of spermatozoa per cyst. This feature is possibly an apomorphy for Tenebrionidae.

  2. [Pneumomediastinum, giant subcutaneous emphysema and pneumoperitoneum revealed by jaw pain. Uncommon physiopathology of pneumomediastinum].

    PubMed

    Le Loch, J-B; Freymond, N; Khettab, F; Pacheco, Y; Devouassoux, G

    2008-02-01

    Spontaneous pneumomediastinum is a rare entity, predominantly described in young man. The association of acute dyspnea, chest pains and subcutaneous emphysema is usually reported. We report the observation of a pneumomediastinum, fortuitously discovered in front of an isolated giant subcutaneous emphysema in a 59 year old man. The recent clinical history was only marked by the presence of intense and acute dental pains. Associated with a pneumoperitoneum, a retro-pneumoperitoneum, this clinical presentation is uncommon and differs from previous published case reports. Despite a complete evaluation of classical risk factors, its origin remains uncertain. However, the presence of huge dental injuries led to consider such local origin, facilitating air diffusion. This case report allows to reconsider spontaneous pneumomediastinum entity and to propose additional physiopathological mechanisms. This original description underlines the interest to systematically perform dental examination in the presence of unexplained pneumomediastinum.

  3. [Histological diagnosis and complications of celiac disease. Update according to the new S2k guidelines].

    PubMed

    Aust, D E; Bläker, H

    2015-03-01

    Celiac disease is a relatively common immunological systemic disease triggered by the protein gluten in genetically predisposed individuals. Classical symptoms like chronic diarrhea, steatorrhea, weight loss and growth retardation are nowadays relatively uncommon. Diagnostic workup includes serological tests for IgA antibodies against tissue transglutaminase 2 (anti-TG2-IgA) and total IgA and histology of duodenal biopsies. Histomorphological classification should be done according to the modified Marsh-Oberhuber classification. Diagnosis of celiac disease should be based on serological, clinical, and histological findings. The only treatment is a life-long gluten-free diet. Unchanged or recurrent symptoms under gluten-free diet may indicate refractory celiac disease. Enteropathy-associated T-cell lymphoma and adenocarcinomas of the small intestine are known complications of celiac disease.

  4. Epidemiology of Gallbladder Disease: Cholelithiasis and Cancer

    PubMed Central

    Stinton, Laura M.

    2012-01-01

    Diseases of the gallbladder are common and costly. The best epidemiological screening method to accurately determine point prevalence of gallstone disease is ultrasonography. Many risk factors for cholesterol gallstone formation are not modifiable such as ethnic background, increasing age, female gender and family history or genetics. Conversely, the modifiable risks for cholesterol gallstones are obesity, rapid weight loss and a sedentary lifestyle. The rising epidemic of obesity and the metabolic syndrome predicts an escalation of cholesterol gallstone frequency. Risk factors for biliary sludge include pregnancy, drugs like ceftiaxone, octreotide and thiazide diuretics, and total parenteral nutrition or fasting. Diseases like cirrhosis, chronic hemolysis and ileal Crohn's disease are risk factors for black pigment stones. Gallstone disease in childhood, once considered rare, has become increasingly recognized with similar risk factors as those in adults, particularly obesity. Gallbladder cancer is uncommon in developed countries. In the U.S., it accounts for only ~ 5,000 cases per year. Elsewhere, high incidence rates occur in North and South American Indians. Other than ethnicity and female gender, additional risk factors for gallbladder cancer include cholelithiasis, advancing age, chronic inflammatory conditions affecting the gallbladder, congenital biliary abnormalities, and diagnostic confusion over gallbladder polyps. PMID:22570746

  5. A pseudo MS3 approach for identification of disulfide-bonded proteins: uncommon product ions and database search.

    PubMed

    Chen, Jianzhong; Shiyanov, Pavel; Schlager, John J; Green, Kari B

    2012-02-01

    It has previously been reported that disulfide and backbone bonds of native intact proteins can be concurrently cleaved using electrospray ionization (ESI) and collision-induced dissociation (CID) tandem mass spectrometry (MS/MS). However, the cleavages of disulfide bonds result in different cysteine modifications in product ions, making it difficult to identify the disulfide-bonded proteins via database search. To solve this identification problem, we have developed a pseudo MS(3) approach by combining nozzle-skimmer dissociation (NSD) and CID on a quadrupole time-of-flight (Q-TOF) mass spectrometer using chicken lysozyme as a model. Although many of the product ions were similar to those typically seen in MS/MS spectra of enzymatically derived peptides, additional uncommon product ions were detected including c(i-1) ions (the i(th) residue being aspartic acid, arginine, lysine and dehydroalanine) as well as those from a scrambled sequence. The formation of these uncommon types of product ions, likely caused by the lack of mobile protons, were proposed to involve bond rearrangements via a six-membered ring transition state and/or salt bridge(s). A search of 20 pseudo MS(3) spectra against the Gallus gallus (chicken) database using Batch-Tag, a program originally designed for bottom up MS/MS analysis, identified chicken lysozyme as the only hit with the expectation values less than 0.02 for 12 of the spectra. The pseudo MS(3) approach may help to identify disulfide-bonded proteins and determine the associated post-translational modifications (PTMs); the confidence in the identification may be improved by incorporating the fragmentation characteristics into currently available search programs. © American Society for Mass Spectrometry, 2011

  6. Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease

    PubMed Central

    Nederend, Ineke; Jongbloed, Monique R. M.; de Geus, Eco J. C.; Blom, Nico A.; ten Harkel, Arend D. J.

    2016-01-01

    Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted. PMID:29367565

  7. Spectrum of high-resolution computed tomography imaging in occupational lung disease

    PubMed Central

    Satija, Bhawna; Kumar, Sanyal; Ojha, Umesh Chandra; Gothi, Dipti

    2013-01-01

    Damage to the lungs caused by dusts or fumes or noxious substances inhaled by workers in certain specific occupation is known as occupational lung disease. Recognition of occupational lung disease is especially important not only for the primary worker, but also because of the implications with regard to primary and secondary disease prevention in the exposed co-workers. Although many of the disorders can be detected on chest radiography, high-resolution computed tomography (HRCT) is superior in delineating the lung architecture and depicting pathology. The characteristic radiological features suggest the correct diagnosis in some, whereas a combination of clinical features, occupational history, and radiological findings is essential in establishing the diagnosis in others. In the presence of a history of exposure and consistent clinical features, the diagnosis of even an uncommon occupational lung disease can be suggested by the characteristic described HRCT findings. In this article, we briefly review the HRCT appearance of a wide spectrum of occupational lung diseases. PMID:24604929

  8. Spectrum of high-resolution computed tomography imaging in occupational lung disease.

    PubMed

    Satija, Bhawna; Kumar, Sanyal; Ojha, Umesh Chandra; Gothi, Dipti

    2013-10-01

    Damage to the lungs caused by dusts or fumes or noxious substances inhaled by workers in certain specific occupation is known as occupational lung disease. Recognition of occupational lung disease is especially important not only for the primary worker, but also because of the implications with regard to primary and secondary disease prevention in the exposed co-workers. Although many of the disorders can be detected on chest radiography, high-resolution computed tomography (HRCT) is superior in delineating the lung architecture and depicting pathology. The characteristic radiological features suggest the correct diagnosis in some, whereas a combination of clinical features, occupational history, and radiological findings is essential in establishing the diagnosis in others. In the presence of a history of exposure and consistent clinical features, the diagnosis of even an uncommon occupational lung disease can be suggested by the characteristic described HRCT findings. In this article, we briefly review the HRCT appearance of a wide spectrum of occupational lung diseases.

  9. Shigella Phages Isolated during a Dysentery Outbreak Reveal Uncommon Structures and Broad Species Diversity.

    PubMed

    Doore, Sarah M; Schrad, Jason R; Dean, William F; Dover, John A; Parent, Kristin N

    2018-04-15

    In 2016, Michigan experienced the largest outbreak of shigellosis, a type of bacillary dysentery caused by Shigella spp., since 1988. Following this outbreak, we isolated 16 novel Shigella -infecting bacteriophages (viruses that infect bacteria) from environmental water sources. Most well-known bacteriophages infect the common laboratory species Escherichia coli and Salmonella enterica , and these phages have built the foundation of molecular and bacteriophage biology. Until now, comparatively few bacteriophages were known to infect Shigella spp., which are close relatives of E. coli We present a comprehensive analysis of these phages' host ranges, genomes, and structures, revealing genome sizes and capsid properties that are shared by very few previously described phages. After sequencing, a majority of the Shigella phages were found to have genomes of an uncommon size, shared by only 2% of all reported phage genomes. To investigate the structural implications of this unusual genome size, we used cryo-electron microscopy to resolve their capsid structures. We determined that these bacteriophage capsids have similarly uncommon geometry. Only two other viruses with this capsid structure have been described. Since most well-known bacteriophages infect Escherichia or Salmonella , our understanding of bacteriophages has been limited to a subset of well-described systems. Continuing to isolate phages using nontraditional strains of bacteria can fill gaps that currently exist in bacteriophage biology. In addition, the prevalence of Shigella phages during a shigellosis outbreak may suggest a potential impact of human health epidemics on local microbial communities. IMPORTANCE Shigella spp. bacteria are causative agents of dysentery and affect more than 164 million people worldwide every year. Despite the need to combat antibiotic-resistant Shigella strains, relatively few Shigella -infecting bacteriophages have been described. By specifically looking for Shigella

  10. Epstein-Barr virus infection and related hematological diseases.

    PubMed

    Sawada, Akihisa

    2016-01-01

    Once the Epstein-Barr virus (EBV) has infected a person, it then latently infects B cells. This latent infection lasts a lifetime. However, EBV can infect T or NK cells (T/NK cells) in rare cases. Therefore, EBV causes various hematological diseases. Among these diseases, CAEBV is regarded as the most problematic because, although it is not particularly uncommon, the diagnostic tests for this disease are not covered by health insurance, a serious illness in the "non-active" periods is lacking, and the appropriate motivation for early initiation of treatment can easily be lost. However, the symptoms may suddenly change; and if the manifestations are resistant when such exacerbation occurs, CAEBC is potentially lethal. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only cure. Once the diagnosis has been made, earlier treatment initiation, safer bridging to allogeneic HSCT with multi-drug chemotherapy, and then, planned HSCT can be completed more safely and thereby achieve a better outcome.

  11. Clinical association: Lyme disease and Guillain-Barre syndrome.

    PubMed

    Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

    2017-10-01

    Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Potential treatment of inflammatory bowel disease: a review of helminths therapy.

    PubMed

    Taghipour, Niloofar; Aghdaei, Hamid Asadzadeh; Haghighi, Ali; Mossafa, Nariman; Tabaei, Seyyed Javad Seyyed; Rostami-Nejad, Mohammad

    2014-01-01

    An inflammatory bowel disease (IBD) is most common in highly industrialized Western countries but uncommon in less developed areas of the world where helminths are frequent. The hygiene hypothesis proposes that the recent increase in allergic and autoimmune diseases is due to modern highly hygienic life styles and medical conditions. Loss of routine exposure to parasitic helminths, as a result of increasing lifestyle-associated factors, may be one factor leading to the increased disease prevalence. In animal models and clinical trials of IBD, gastrointestinal nematodes colonization suppresses intestinal inflammation through multiple mechanisms including induction of innate and adaptive regulatory circuits. Studies using helminths like Trichuris suis or Necator americanus showed that these helminths are safe and may be effective therapeutic approaches for the control of IBD and other immune diseases. The aim of present review was to exploring the therapeutic use of helminths for the control of IBD.

  13. Observation of Terahertz Radiation via the Two-Color Laser Scheme with Uncommon Frequency Ratios

    NASA Astrophysics Data System (ADS)

    Zhang, Liang-Liang; Wang, Wei-Min; Wu, Tong; Zhang, Rui; Zhang, Shi-Jing; Zhang, Cun-Lin; Zhang, Yan; Sheng, Zheng-Ming; Zhang, Xi-Cheng

    2017-12-01

    In the widely studied two-color laser scheme for terahertz (THz) radiation from a gas, the frequency ratio of the two lasers is usually fixed at ω2/ω1=1 :2 . We investigate THz generation with uncommon frequency ratios. Our experiments show, for the first time, efficient THz generation with new ratios of ω2/ω1=1 :4 and 2 ∶3 . We observe that the THz polarization can be adjusted by rotating the longer-wavelength laser polarization and the polarization adjustment becomes inefficient by rotating the other laser polarization; the THz energy shows similar scaling laws with different frequency ratios. These observations are inconsistent with multiwave mixing theory, but support the gas-ionization or plasma-current model. This study pushes the development of the two-color scheme and provides a new dimension to explore the long-standing problem of the THz generation mechanism.

  14. Observation of Terahertz Radiation via the Two-Color Laser Scheme with Uncommon Frequency Ratios.

    PubMed

    Zhang, Liang-Liang; Wang, Wei-Min; Wu, Tong; Zhang, Rui; Zhang, Shi-Jing; Zhang, Cun-Lin; Zhang, Yan; Sheng, Zheng-Ming; Zhang, Xi-Cheng

    2017-12-08

    In the widely studied two-color laser scheme for terahertz (THz) radiation from a gas, the frequency ratio of the two lasers is usually fixed at ω_{2}/ω_{1}=1:2. We investigate THz generation with uncommon frequency ratios. Our experiments show, for the first time, efficient THz generation with new ratios of ω_{2}/ω_{1}=1:4 and 2∶3. We observe that the THz polarization can be adjusted by rotating the longer-wavelength laser polarization and the polarization adjustment becomes inefficient by rotating the other laser polarization; the THz energy shows similar scaling laws with different frequency ratios. These observations are inconsistent with multiwave mixing theory, but support the gas-ionization or plasma-current model. This study pushes the development of the two-color scheme and provides a new dimension to explore the long-standing problem of the THz generation mechanism.

  15. Catathrenia: Parasomnia or Uncommon Feature of Sleep Disordered Breathing?

    PubMed Central

    Guilleminault, Christian; Hagen, Chad C.; Khaja, Aliuddin M

    2008-01-01

    Objective: We report a series of seven consecutive cases of catathrenia (sleep related groaning) that differ from limited previous reports in the literature with regard to sleep stage and response to treatment. Background: Catathrenia was recently defined as a parasomnia in the International Classification of Sleep Disorders Diagnostic and Coding Manual (ICSD-2), but there is debate about its classification, and its response to CPAP is unknown. Methods: We present 7 consecutive patients presenting with catathrenia over a 5-year period. They were all young women, ranging in age from 20 to 34 years with a body mass index (BMI) <25. They underwent standard clinical evaluation, questionnaires, physical exam, craniofacial evaluations, and nocturnal polysomnography. All seven were titrated on continuous passive airway pressure (CPAP) treatment for sleep disordered breathing then offered surgical treatment if unable to tolerate or adhere to CPAP recommendations. Results: Groaning was present throughout all stages of sleep. The mean (SD) AHI and RDI were 3.2 (0.56) and 13.1 (2.4) respectively. CPAP resolved groaning in all cases. 5 patients (71%) elected subsequent surgical intervention. Three of the 4 that followed up after surgery required adjuvant oral appliance treatment, but all four ultimately had resolution of groaning. Conclusions: Catathrenia may have subtypes related to sleep stage specificity or presence of sleep disordered breathing. In our heterogeneous group of non-obese women with a normal AHI and elevated RDI, CPAP and select soft tissue surgeries of the upper airway (often augmented with an oral appliance) successfully treated nocturnal groaning. Citation: Guilleminault C; Hagen CC; Khaja AM. Catathrenia: parasomnia or uncommon feature of sleep disordered breathing?. SLEEP 2008;31(1):132-139. PMID:18220087

  16. Pin Worms Presenting as Suspected Crohn’s Disease

    PubMed Central

    Al-Saffar, Farah; Najjar, Nimeh; Ibrahim, Saif; Clark, Matthew

    2015-01-01

    Patient: Female, 24 Final Diagnosis: Pinworms infection Symptoms: Abdominal pain • bloating Medication: — Clinical Procedure: Colonoscopy and biopsy Specialty: Gastroenterology and Hepatology Objective: Rare disease Background: Inflammatory bowel disease (IBD) is well recognized in developed countries and is generally among the differential diagnoses of young patients presenting with refractory diarrhea once other more common etiologies have been excluded. Pinworm infections, on the other hand, are not as common among adults in the United States. Case Report: Based on computed tomography features, a 24-year-old female patient with a history of multiple autoimmune disorders presented with abdominal pain and was diagnosed recently with Crohn’s disease. Colonoscopy was significant for pinworms seen throughout the colon. Colonic biopsy was negative for inflammatory bowel disease (IBD)-related changes. Conclusions: The diagnosis of IBD is a serious label that requires biopsy confirmation before committing to possibly lifelong treatment and possible adverse effects. Even in the most typical patient and when the presentation and imaging are classical, uncommon conditions (like Enterobius infection in this case) may preclude appropriate diagnosis and management. PMID:26471462

  17. Male Zuska's disease.

    PubMed

    Johnson, Shepard P; Kaoutzanis, Christodoulos; Schaub, George A

    2014-04-04

    Subareolar abscess of the male breast is a rare condition, which can be complicated by a fistula from the areolar skin into a lactiferous duct. In 1951, Zuska et al first characterised this entity in women. Literature on mammillary fistulas in men is scarce and therefore standardisation of treatment does not exist. We present two cases of recurrent subareolar abscesses with draining fistulas. Both patients were successfully treated by complete excision of the lactiferous duct fistula, and continue to do well with no evidence of disease recurrence. When male patients present with a draining subareolar abscess, one should have a high index of suspicion for a mammillary fistula. Failure to identify and surgically excise the fistula may lead to recurrence of the abscess and prolonged morbidity. The most effective management of this uncommon entity includes complete excision of the lactiferous duct fistula.

  18. Quantitative assessment of finger tapping characteristics in mild cognitive impairment, Alzheimer's disease, and Parkinson's disease.

    PubMed

    Roalf, David R; Rupert, Petra; Mechanic-Hamilton, Dawn; Brennan, Laura; Duda, John E; Weintraub, Daniel; Trojanowski, John Q; Wolk, David; Moberg, Paul J

    2018-06-01

    Fine motor impairments are common in neurodegenerative disorders, yet standardized, quantitative measurements of motor abilities are uncommonly used in neurological practice. Thus, understanding and comparing fine motor abilities across disorders have been limited. The current study compared differences in finger tapping, inter-tap interval, and variability in Alzheimer's disease (AD), Parkinson's disease (PD), mild cognitive impairment (MCI), and healthy older adults (HOA). Finger tapping was measured using a highly sensitive light-diode finger tapper. Total number of finger taps, inter-tap interval, and intra-individual variability (IIV) of finger tapping was measured and compared in AD (n = 131), PD (n = 63), MCI (n = 46), and HOA (n = 62), controlling for age and sex. All patient groups had fine motor impairments relative to HOA. AD and MCI groups produced fewer taps with longer inter-tap interval and higher IIV compared to HOA. The PD group, however, produced more taps with shorter inter-tap interval and higher IIV compared to HOA. Disease-specific changes in fine motor function occur in the most common neurodegenerative diseases. The findings suggest that alterations in finger tapping patterns are common in AD, MCI, and PD. In addition, the present results underscore the importance of motor dysfunction even in neurodegenerative disorders without primary motor symptoms.

  19. Segmental hyperhidrosis as a manifestation of spinal and paraspinal disease.

    PubMed

    Schulz, V; Ward, D; Moulin, D E

    1998-11-01

    Segmental hyperhidrosis is an uncommon finding which is usually associated with irritation or infiltration of pre-ganglionic sympathetic fibres or the sympathetic chain. We report two cases of segmental hyperhidrosis with striking clinical features. In one case, a mesothelioma produced ipsilateral simultaneous underactivity and overactivity of sympathetic outflow and in the other case a thoracic central disc herniation was probably responsible for a band of sweating which clearly extended beyond the segmental level of injury. Segmental hyperhidrosis should trigger a search for structural disease in the spinal and paraspinal region.

  20. Multilocus Sequence Typing of Bartonella henselae in the United Kingdom Indicates that Only a Few, Uncommon Sequence Types Are Associated with Zoonotic Disease▿†

    PubMed Central

    Chaloner, Gemma L.; Harrison, Timothy G.; Coyne, Karen P.; Aanensen, David M.; Birtles, Richard J.

    2011-01-01

    Bartonella henselae is one of the most common zoonotic agents acquired from companion animals (cats) in industrialized countries. Nonetheless, although the prevalence of infections in cats is high, the number of human cases reported is relatively low. One hypothesis for this discrepancy is that B. henselae strains vary in their zoonotic potential. To test this hypothesis, we employed structured sampling to explore the population structure of B. henselae in the United Kingdom and to determine the distribution of strains associated with zoonotic disease within this structure. A total of 118 B. henselae strains were delineated into 12 sequence types (STs) using multilocus sequence typing. We observed that most (85%) of the zoonosis-associated strains belonged to only three genotypes, i.e., ST2, ST5, and ST8. Conversely, most (74%) of the feline isolates belonged to ST4, ST6, and ST7. The difference in host association of ST2, ST5, and ST8 (zoonosis associated) and ST6 (feline) was statistically significant (P < 0.05), indicating that a few, uncommon STs were responsible for the majority of symptomatic human infections. PMID:21471345

  1. [Esophageal bronchogenic cyst: an uncommon cause of dysphagia in adults. Case report and literature review].

    PubMed

    Ceniceros-Cabrales, Ana P; Sánchez-Fernández, Patricio

    2018-01-01

    Bronchogenic cysts result from abnormal budding of the primitive tracheobronchial tube and are rare congenital cystic lesions. The location of the cyst depends on the embryological stage of abnormal budding. Although periesophageal bronchogenic cysts have been frequently reported, a completely intramural cyst is very rare. A 42-year-old female patient, a three-month course with retrosternal pain associated with food intake, accompanied by intermittent dysphagia to solids. Esophagogram, high resolution thoracic tomography and endoscopic ultrasound are performed, concluding a probable esophageal bronchogenic cyst. Resection is performed by video-assisted thoracic surgery, without complications. Patient presents with adequate evolution and complete remission of the symptomatology. Bronchogenic cysts of the esophageal wall are extremely uncommon lesions. Its surgical treatment is indicated to be symptomatic; video-assisted thoracoscopic surgery resection is of choice, with excellent long-term results and minimal morbidity. Copyright: © 2018 Permanyer.

  2. Celiac disease presenting as rickets in Saudi children.

    PubMed

    Assiri, Asaad; Saeed, Anjum; AlSarkhy, Ahmed; El Mouzan, Mohammed Issa; El Matary, Wael

    2013-01-01

    Rickets is commonly seen as a sign of malabsorption like celiac disease if it is not treated appropriately with vitamin D and calcium supplements. The aim of this study was to examine the frequency of diagnosis of celiac disease among children with unexplained rickets in Saudi children at a tertiary hospital setting. Retrospective review of records of patients referred over 10 years to a pediatric gastroenterology and hepatology unit. The study included all patients referred for evaluation of unexplained rickets and osteomalacia and screened for celiac disease. The diagnosis of rickets was made on the basis of history, physical examination, biochemical and radiological investigations. The diagnosis of celiac disease was made based on the ESPGHAN (European Society for Pediatric Gastroenterology, Hepatology, and Nutrition) criteria. Twenty-six children with a mean (SD) age of 9.5 (4.6) years (5 males, range 1-15 years) were referred for evaluation of unexplained rickets and were screened for celiac disease. The diagnosis of celiac disease based on small bowel biopsy findings was confirmed in 10 (38.4%) patients with rickets. Serological markers for celiac disease including antiendomyseal antibodies and antitissue transglutaminase antibodies were positive in all ten children. Rickets is not an uncommon presentation of celiac disease in Saudi children and pediatricians should consider celiac disease as an underlying cause for rickets.

  3. Apomictic parthenogenesis in a parasitoid wasp Meteorus pulchricornis, uncommon in the haplodiploid order Hymenoptera.

    PubMed

    Tsutsui, Y; Maeto, K; Hamaguchi, K; Isaki, Y; Takami, Y; Naito, T; Miura, K

    2014-06-01

    Although apomixis is the most common form of parthenogenesis in diplodiploid arthropods, it is uncommon in the haplodiploid insect order Hymenoptera. We found a new type of spontaneous apomixis in the Hymenoptera, completely lacking meiosis and the expulsion of polar bodies in egg maturation division, on the thelytokous strain of a parasitoid wasp Meteorus pulchricornis (Wesmael) (Braconidae, Euphorinae) on pest lepidopteran larvae Spodoptera litura (Fabricius) (Noctuidae). The absence of the meiotic process was consistent with a non-segregation pattern in the offspring of heterozygous females, and no positive evidence was obtained for the induction of thelytoky by any bacterial symbionts. We discuss the conditions that enable the occurrence of such rare cases of apomictic thelytoky in the Hymenoptera, suggesting the significance of fixed heterosis caused by hybridization or polyploidization, symbiosis with bacterial agents, and occasional sex. Our finding will encourage further genetic studies on parasitoid wasps to use asexual lines more wisely for biological control.

  4. Eosinophils in biopsy specimens of lichen sclerosus: a not uncommon finding.

    PubMed

    Lester, Elizabeth B; Swick, Brian L

    2015-01-01

    Evolving lesions of lichen sclerosus (LS) pose a diagnostic challenge owing to an absence of classic findings of epidermal atrophy, dermal sclerosis, a band-like lymphocytic infiltrate and the presence of eosinophils. Retrospective specimens of LS were reviewed. Demographic information, biopsy vs. excision and the following histopathological characteristics were noted: presence and number of eosinophils, epidermal hyperplasia, spongiosis, early/transitional LS, well-developed LS and coexisting squamous cell carcinoma (SCC). Linear regression analysis was performed. The data consisted of 66 biopsies (36 male [M], 30 female [F]), from 53 individuals (33M, 20F), including 57 genital and 9 extragenital biopsies. Seven biopsies showed SCC, 28 showed epidermal hyperplasia and 14 exhibited spongiosis. Thirty-five specimens were early/transitional LS and commonly exhibited epidermal hyperplasia (57%), epidermotropism of lymphocytes (97%) and basement membrane thickening (97%). Thirty-five biopsies (53%) contained eosinophils (23 early/transitional lesions). Male gender (p = 0.074) was associated with increased eosinophils. The presence of SCC (p = 0.014) was a significant predictors of eosinophil number. Epidermal hyperplasia, epidermotropism of lymphocytes and basement membrane thickening are helpful features in identifying early LS. Eosinophils are not an uncommon finding in LS and are most common in male genital lesions and in LS associated with SCC. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Putrescine Aminopropyltransferase Is Responsible for Biosynthesis of Spermidine, Spermine, and Multiple Uncommon Polyamines in Osmotic Stress-Tolerant Alfalfa.

    PubMed Central

    Bagga, S.; Rochford, J.; Klaene, Z.; Kuehn, G. D.; Phillips, G. C.

    1997-01-01

    The biosynthesis of polyamines from the diamine putrescine is not fully understood in higher plants. A putrescine aminopropyltransferase (PAPT) enzyme activity was characterized in alfalfa (Medicago sativa L.). This enzyme activity was highly specific for putrescine as the initial substrate and did not recognize another common diamine, 1,3-diaminopropane, or higher-molecular-weight polyamines such as spermidine and spermine as alternative initial substrates. The enzyme activity was inhibited by a general inhibitor of aminopropyltransferases, 5[prime]-methylthioadenosine, and by a specific inhibitor of PAPTs, cyclohexylammonium sulfate. The initial substrate specificity and inhibition characteristics of the enzyme activity suggested that it is a classical example of a PAPT. However, this enzyme activity yielded multiple polyamine products, which is uncharacteristic of PAPTs. The major reaction product of PAPT activity in alfalfa was spermidine. The next most abundant products of the enzyme reaction using putrescine as the initial substrate included the tetramines spermine and thermospermine. These two tetramines were distinguished by thin-layer chromatography to be distinct reaction products exhibiting differential rates of formation. In addition, the uncommon polyamines homocaldopentamine and homocaldohexamine were tentatively identified as minor enzymatic reaction products but only in extracts prepared from osmotic stresstolerant alfalfa cultivars. PAPT activity from alfalfa was highest in meristematic shoot tip and floral bud tissues and was not detected in older, nonmeristematic tissues. Product inhibition of the enzyme activity was observed after spermidine was added into the in vitro assay for alfalfa PAPT activity. A biosynthetic pathway is proposed that accounts for the characteristics of this PAPT activity and accommodates a novel scheme by which certain uncommon polyamines are produced in plants. PMID:12223719

  6. Pyoderma gangrenosum in a patient with chronic granulomatous disease

    PubMed Central

    Nanoudis, Sideris; Tsona, Afroditi; Tsachouridou, Olga; Morfesis, Petros; Loli, Georgia; Georgiou, Adamantini; Zebekakis, Pantelis; Metallidis, Symeon

    2017-01-01

    Abstract Rationale: The simultaneous occurrence of pyoderma gangrenosum (PG) and chronic granulomatous disease (CGD) is uncommon and few cases have been reported worldwide. Patient concerns: PG is a rare, chronic, ulcerative, neutrophilic skin disease of unknown etiology that requires immunosuppressive treatment. CGD belongs to Primary Immune Deficiencies in which the main defect lies in an inability of the phagocytic cells to generate superoxide making patients susceptible to serious, potentially life-threatening bacterial and fungal infections. Diagnoses: In this manuscript, we present a case of ulcerative pyoderma gangrenosum in a 28-year-old man with recent diagnosis of chronic granulomatous disease during hospitalization for resistant pulmonary tuberculosis complicated with Aspergillus infection. Interventions: Second-line therapy with dapsone and intravenous immunoglobulin was initially administered but eventually corticosteroids were added to treatment because of disease progression and further ulceration. Outcomes: Patient's ulcers were gradually healed with no side effects. Lessons: Corticosteroids could be used under close monitoring for the treatment of PG in a patient with CGD, despite the increased risk for infections. PMID:28767612

  7. The Uncommon Localization of Herpes Zoster

    PubMed Central

    Cukic, Vesna

    2016-01-01

    Introduction: Herpes zoster is an acute, cutaneous viral infection caused by the reactivation of varicella-zoster virus (VZV) that is the cause of varicella. It is an acute neurological disease which can often lead to serious postherpetic neuralgia (PHN). Different nerves can be included with the skin rash in the area of its enervation especially cranial nerves (CV) and intercostal nerves. Case report: In this report we present a patient with herpes zoster which involved ulnar nerve with skin rash in the region of ulnar innervations in women with no disease previously diagnosed. The failure of her immune system may be explained by great emotional stress and overwork she had been exposed to with neglecting proper nutrition in that period. Conclusion: Herpes zoster may involve any nerve with characteristic skin rash in the area of its innervations, and failure in immune system which leads reactivation of VZV may be caused by other factors besides the underlying illness. PMID:26980938

  8. Periodontal diseases in children and adolescents: a clinician's perspective part 2.

    PubMed

    Kumar, Ashish; Masamatti, Sujata Surendra; Virdi, Mandeep Singh

    2012-11-01

    The general dental practitioner and paediatric dentist are in a unique position to identify and distinguish between a seemingly innocuous condition that may be a normal physiological aberration or an early sign of severe destructive periodontal disease. Although severe destructive periodontal conditions are uncommon in children, it is essential that children receive a periodontal screening as part of their regular dental examination. Early diagnosis ensures a high likelihood of a successful therapeutic outcome, primarily by reduction of aetiologic factors, remedial therapy and development of an effective maintenance protocol. This prevents the recurrence and progression of disease and reduces the incidence of tooth loss. In the first article, we discussed the classification, plaque-induced and non plaque-induced gingival diseases, localized and generalized forms of chronic as well as aggressive periodontitis. In this second article, we discuss periodontitis as a manifestation of systemic disease, necrotizing periodontal diseases, periodontal screening and basic periodontal examination, and treatment of periodontal diseases in children and adolescents. Incorporation of periodontal screening in regular dental examination by dentists can help in early diagnosis and treatment of periodontal diseases. This could prevent further progression of disease and reduce the frequency of tooth loss.

  9. Follicular Dowling Degos disease: a rare variant of an evolving dermatosis.

    PubMed

    Singh, Saurabh; Khandpur, Sujay; Verma, Parul; Singh, Manoj

    2013-01-01

    Dowling Degos disease is a rare, reticulate pigmentary disorder with variable phenotypic expression that manifests as hyperpigmented macules and reticulate pigmentary anomaly of the flexures. Many variants of this condition and its overlap with other reticulate pigmentary disorders have been reported in the literature. We present here two cases of DDD with follicular localization, both clinically and histologically. It was associated with ichthyosis vulgaris in one case. Follicular DDD is an uncommon variant of this evolving dermatosis. Our report supports the possible role for disordered follicular keratinisation in its pathogenesis.

  10. Male Zuska's disease

    PubMed Central

    Johnson, Shepard P; Kaoutzanis, Christodoulos; Schaub, George A

    2014-01-01

    Subareolar abscess of the male breast is a rare condition, which can be complicated by a fistula from the areolar skin into a lactiferous duct. In 1951, Zuska et al first characterised this entity in women. Literature on mammillary fistulas in men is scarce and therefore standardisation of treatment does not exist. We present two cases of recurrent subareolar abscesses with draining fistulas. Both patients were successfully treated by complete excision of the lactiferous duct fistula, and continue to do well with no evidence of disease recurrence. When male patients present with a draining subareolar abscess, one should have a high index of suspicion for a mammillary fistula. Failure to identify and surgically excise the fistula may lead to recurrence of the abscess and prolonged morbidity. The most effective management of this uncommon entity includes complete excision of the lactiferous duct fistula. PMID:24706699

  11. Diurnal and twenty-four hour patterning of human diseases: acute and chronic common and uncommon medical conditions.

    PubMed

    Smolensky, Michael H; Portaluppi, Francesco; Manfredini, Roberto; Hermida, Ramon C; Tiseo, Ruana; Sackett-Lundeen, Linda L; Haus, Erhard L

    2015-06-01

    The symptom intensity and mortality of human diseases, conditions, and syndromes exhibit diurnal or 24 h patterning, e.g., skin: atopic dermatitis, urticaria, psoriasis, and palmar hyperhidrosis; gastrointestinal: esophageal reflux, peptic ulcer (including perforation and hemorrhage), cyclic vomiting syndrome, biliary colic, hepatic variceal hemorrhage, and proctalgia fugax; infection: susceptibility, fever, and mortality; neural: frontal, parietal, temporal, and occipital lobe seizures, Parkinson's and Alzheimer's disease, hereditary progressive dystonia, and pain (cancer, post-surgical, diabetic neuropathic and foot ulcer, tooth caries, burning mouth and temporomandibular syndromes, fibromyalgia, sciatica, intervertebral vacuum phenomenon, multiple sclerosis muscle spasm, and migraine, tension, cluster, hypnic, and paroxysmal hemicranial headache); renal: colic and nocturnal enuresis and polyuria; ocular: bulbar conjunctival redness, keratoconjunctivitis sicca, intraocular pressure and anterior ischemic optic neuropathy, and recurrent corneal erosion syndrome; psychiatric/behavioral: major and seasonal affective depressive disorders, bipolar disorder, parasuicide and suicide, dementia-associated agitation, and addictive alcohol, tobacco, and heroin cravings and withdrawal phenomena; plus autoimmune and musculoskeletal: rheumatoid arthritis, osteoarthritis, axial spondylarthritis, gout, Sjögren's syndrome, and systemic lupus erythematosus. Knowledge of these and other 24 h patterns of human pathophysiology informs research of their underlying circadian and other endogenous mechanisms, external temporal triggers, and more effective patient care entailing clinical chronopreventive and chronotherapeutic strategies. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Chronic Lyme borreliosis associated with minimal change glomerular disease: a case report.

    PubMed

    Florens, N; Lemoine, S; Guebre-Egziabher, F; Valour, F; Kanitakis, J; Rabeyrin, M; Juillard, L

    2017-02-06

    There are only few cases of renal pathology induced by Lyme borreliosis in the literature, as this damage is rare and uncommon in humans. This patient is the first case of minimal change glomerular disease associated with chronic Lyme borreliosis. A 65-year-old Caucasian woman was admitted for an acute edematous syndrome related to a nephrotic syndrome. Clinical examination revealed violaceous skin lesions of the right calf and the gluteal region that occurred 2 years ago. Serological tests were positive for Lyme borreliosis and skin biopsy revealed lesions of chronic atrophic acrodermatitis. Renal biopsy showed minimal change glomerular disease. The skin lesions and the nephrotic syndrome resolved with a sequential treatment with first ceftriaxone and then corticosteroids. We report here the first case of minimal change disease associated with Lyme borreliosis. The pathogenesis of minimal change disease in the setting of Lyme disease is discussed but the association of Lyme and minimal change disease may imply a synergistic effect of phenotypic and bacterial factors. Regression of proteinuria after a sequential treatment with ceftriaxone and corticosteroids seems to strengthen this conceivable association.

  13. Susceptibility Testing of Common and Uncommon Aspergillus Species against Posaconazole and Other Mold-Active Antifungal Azoles Using the Sensititre Method

    PubMed Central

    Mello, Enrica; Posteraro, Brunella; Vella, Antonietta; De Carolis, Elena; Torelli, Riccardo; D'Inzeo, Tiziana; Verweij, Paul E.

    2017-01-01

    ABSTRACT We tested 59 common and 27 uncommon Aspergillus species isolates for susceptibility to the mold-active azole antifungal agents itraconazole, voriconazole, and posaconazole using the Sensititre method. The overall essential agreement with the CLSI reference method was 96.5% for itraconazole and posaconazole and was 100% for voriconazole. By the Sensititre method as well as the CLSI reference method, all of 10 A. fumigatus isolates with a cyp51 mutant genotype were classified as being non-wild-type isolates (MIC > epidemiological cutoff value [ECV]) with respect to triazole susceptibility. PMID:28416538

  14. Feline dermatophytosis: aspects pertinent to disease management in single and multiple cat situations.

    PubMed

    Moriello, Karen

    2014-05-01

    Dermatophytosis (ringworm) is a superficial fungal skin disease of cats that, depending on the geographic region and practice caseload, may be encountered uncommonly through to commonly. This is a self-curing disease in an immunocompetent cat. Dermatophytosis is prevalent worldwide and is one of a number of zoonotic skin diseases that cat owners are at risk of contracting. Dermatophytosis causes non-specific signs of hair loss, erythema and scaling, making it a differential diagnosis for many skin diseases of cats. The fact that this disease is infectious and contagious, and does not have any one classic clinical presentation, makes knowledge of diagnostic tools important in detection. The veterinarian's role is in early disease recognition and institution of appropriate therapy to hasten resolution of the disease. The focus of this article is to provide an update and review of the most pertinent aspects that may be helpful in the management of dermatophytosis in any single or multiple cat situation. Where appropriate, evidence from the literature is used to supplement a summary of the author's clinical experience and research in feline dermatophytosis.

  15. Appendiceal hemorrhage -- an uncommon cause of lower gastrointestinal bleeding.

    PubMed

    Chiang, Ching-Chung; Tu, Chi-Wen; Liao, Chi-Szu; Shieh, Min-Chieh; Sung, Tien-Chou

    2011-06-01

    Lower gastrointestinal bleeding is a common disease among elderly patients. The common sources of lower gastrointestinal bleeding include vascular disease, Crohn's disease, neoplasms, inflammatory bowel disease, hemorrhoids, and ischemic colitis. Lower gastrointestinal bleeding arising from the appendix is an extremely rare condition. We report a case of appendiceal hemorrhage in a young male. Diagnosis was made by multidetector computerized tomography during survey for hematochezia. The patient recovered well after appendectomy. The histological finding revealed focal erosion of appendix mucosa with bleeding. Copyright © 2011. Published by Elsevier B.V.

  16. [Benign multicystic peritoneal mesothelioma in a patient with Crohn disease].

    PubMed

    Fluxá, Daniela; Kronberg, Udo; Lubascher, Jaime; O'Brien, Andrés; Las Heras, Facundo; Ibáñez, Patricio; Quera, Rodrigo

    2016-12-01

    Benign multicystic peritoneal mesothelioma is an uncommon lesion arising from the peritoneal mesothelium. It is asymptomatic or presents with unspecific symptoms. Imaging techniques may reveal it, however the final diagnosis can only be made by histopathology. Surgery is the only effective treatment considering its high recurrence rate. We report a 19 years old male with Crohn’s disease. Due to persistent abdominal pain, an abdominal magnetic resonance imaging was performed, showing a complex cystic mass in the lower abdomen. The patient underwent surgery and the lesion was completely resected. The pathological study reported a benign multicystic peritoneal mesothelioma.

  17. Naloxone-induced seizures in rats infected with Borna disease virus.

    PubMed

    Solbrig, M V; Koob, G F; Lipkin, W I

    1996-04-01

    The opioid antagonist naloxone is widely used in the emergency treatment of nontraumatic coma. Although it is uncommon for serious side effects to result from administration of opiate antagonists, we report that naloxone can have epileptogenic effects in the context of encephalitis. In an experimental model of viral encephalitis, rats infected with Borna disease virus developed myoclonic, generalized clonic, or atonic seizures; behavior arrest; and staring spells when treated with naloxone. These findings suggest a novel neuropharmacologic link, through opioid peptide systems, between epilepsy and encephalitis and disclose a potential contraindication to use of opioid antagonists in nontraumatic coma.

  18. Pyoderma gangrenosum in a patient with chronic granulomatous disease: A case report.

    PubMed

    Nanoudis, Sideris; Tsona, Afroditi; Tsachouridou, Olga; Morfesis, Petros; Loli, Georgia; Georgiou, Adamantini; Zebekakis, Pantelis; Metallidis, Symeon

    2017-08-01

    The simultaneous occurrence of pyoderma gangrenosum (PG) and chronic granulomatous disease (CGD) is uncommon and few cases have been reported worldwide. PG is a rare, chronic, ulcerative, neutrophilic skin disease of unknown etiology that requires immunosuppressive treatment. CGD belongs to Primary Immune Deficiencies in which the main defect lies in an inability of the phagocytic cells to generate superoxide making patients susceptible to serious, potentially life-threatening bacterial and fungal infections. In this manuscript, we present a case of ulcerative pyoderma gangrenosum in a 28-year-old man with recent diagnosis of chronic granulomatous disease during hospitalization for resistant pulmonary tuberculosis complicated with Aspergillus infection. Second-line therapy with dapsone and intravenous immunoglobulin was initially administered but eventually corticosteroids were added to treatment because of disease progression and further ulceration. Patient's ulcers were gradually healed with no side effects. Corticosteroids could be used under close monitoring for the treatment of PG in a patient with CGD, despite the increased risk for infections.

  19. Cole Disease Results from Mutations in ENPP1.

    PubMed

    Eytan, Ori; Morice-Picard, Fanny; Sarig, Ofer; Ezzedine, Khaled; Isakov, Ofer; Li, Qiaoli; Ishida-Yamamoto, Akemi; Shomron, Noam; Goldsmith, Tomer; Fuchs-Telem, Dana; Adir, Noam; Uitto, Jouni; Orlow, Seth J; Taieb, Alain; Sprecher, Eli

    2013-10-03

    The coexistence of abnormal keratinization and aberrant pigmentation in a number of cornification disorders has long suggested a mechanistic link between these two processes. Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderma, patchy hypopigmentation, and uncommonly, cutaneous calcifications. Using a combination of exome and direct sequencing, we showed complete cosegregation of the disease phenotype with three heterozygous ENPP1 mutations in three unrelated families. All mutations were found to affect cysteine residues in the somatomedin-B-like 2 (SMB2) domain in the encoded protein, which has been implicated in insulin signaling. ENPP1 encodes ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), which is responsible for the generation of inorganic pyrophosphate, a natural inhibitor of mineralization. Previously, biallelic mutations in ENPP1 were shown to underlie a number of recessive conditions characterized by ectopic calcification, thus providing evidence of profound phenotypic heterogeneity in ENPP1-associated genetic diseases. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  20. Calf enlargement associated with neurologic disease: two uncommon cases.

    PubMed

    Harwood, S C; Honet, J C

    1988-01-01

    Muscle enlargement and hypertrophy are rare findings in neurogenic lesions. The two in combination have been reported in cases of peripheral nerve lesions, polyneuropathy, and poliomyelitis. True and pseudo muscle hypertrophy are the two possible etiologies, whereas infiltration, stretch, or exercise of the muscle are the causative factors. We report two cases of unilateral calf enlargement, one occurring after surgery for S1 radiculopathy with associated cramping, and the other after poliomyelitis.

  1. An uncommon case of a suicide with inhalation of hydrogen cyanide.

    PubMed

    Musshoff, F; Kirschbaum, K M; Madea, B

    2011-01-30

    An uncommon suicide by oral ingestion of potassium cyanide salts and contemporaneous inhalation of hydrogen cyanide is presented. A 48-year-old tradesman was found dead sitting in his car. A penetrating odor of bitter almonds was noticed when opening the doors. A camping stove and a cooking pot containing large amounts of dark blue crystals were found in the footwell of the car. White powder adhered to his fingers and to the area around the mouth. Furthermore bottles containing potassium ferrocyanide and different kinds of acid and leach were found in the car together with internet information about, e.g. potassium ferrocyanide and potassium cyanide. At autopsy hemorrhages and erosions of the mucosa of the respiratory tract, esophagus and stomach were found. Concentrations of cyanide were 0.2mg/l in stomach contents, 0.96mg/kg in brain tissue, 2.79mg/kg in lungs, and 5.3mg/l in blood. The white and toxic powder potassium cyanide was formed by heating of the yellow crystals of potassium ferrocyanide on the camping stove. This powder was probably ingested orally. Addition of acid converted the salt into the highly toxic gas hydrogen cyanide. Oxidation with atmospheric oxygen built the dark blue ferrous compound Prussian blue. This case report of a person who was not familiar with chemicals demonstrates the acquisition of professional information via the internet, enabling a suicide with a complex procedure. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  2. White-Coat Effect Is Uncommon in Patients With Refractory Hypertension.

    PubMed

    Siddiqui, Mohammed; Judd, Eric K; Oparil, Suzanne; Calhoun, David A

    2017-09-01

    Refractory hypertension is a recently described phenotype of antihypertensive treatment failure defined as uncontrolled blood pressure (BP) despite the use of ≥5 different antihypertensive agents, including chlorthalidone and spironolactone. Recent studies indicate that refractory hypertension is uncommon, with a prevalence of ≈5% to 10% of patients referred to a hypertension specialty clinic for uncontrolled hypertension. The prevalence of white-coat effect, that is, uncontrolled automated office BP ≥135/85 mm Hg and controlled out-of-office BP <135/85 mm Hg, by awake ambulatory BP monitor in hypertensive patients overall is ≈30% to 40%. The prevalence of white-coat effect among patients with refractory hypertension has not been previously reported. In this prospective evaluation, consecutive patients referred to the University of Alabama at Birmingham Hypertension Clinic for uncontrolled hypertension were enrolled. Refractory hypertension was defined as uncontrolled automated office BP ≥135/85 mm Hg with the use of ≥5 antihypertensive agents, including chlorthalidone and spironolactone. Automated office BP measurements were based on 6 serial readings, done automatically with the use of a BpTRU device unobserved in the clinic. Out-of-office BP measurements were done by 24-hour ambulatory BP monitor. Thirty-four patients were diagnosed with refractory hypertension, of whom 31 had adequate ambulatory BP monitor readings. White-coat effect was present in only 2 patients, or 6.5% of the 31 patients with refractory hypertension, suggesting that white-coat effect is largely absent in patients with refractory hypertension. These findings suggest that white-coat effect is not a common cause of apparent lack of BP control in patients failing maximal antihypertensive treatment. © 2017 American Heart Association, Inc.

  3. Graft-versus-host disease after radiation therapy in patients who have undergone allogeneic stem cell transplantation: two case reports.

    PubMed

    Milgrom, Sarah A; Nieto, Yago; Pinnix, Chelsea C; Smith, Grace L; Wogan, Christine F; Rondon, Gabriela; Medeiros, L Jeffrey; Kebriaei, Partow; Dabaja, Bouthaina S

    2016-07-28

    Patients who undergo allogeneic stem cell transplantation and subsequent radiation therapy uncommonly develop graft-versus-host disease within the irradiated area. We quantified the incidence of this complication, which is a novel contribution to the field. From 2010 to 2014, 1849 patients underwent allogeneic stem cell transplantation, and 41 (2 %) received radiation therapy afterward. Of these, two patients (5 %) developed graft-versus-host disease within the irradiated tissues during or immediately after radiation therapy. The first patient is a 37-year-old white man who had Hodgkin lymphoma; he underwent allogeneic stem cell transplantation from a matched unrelated donor and received radiation therapy for an abdominal and pelvic nodal recurrence. After 28.8 Gy, he developed grade 4 gastrointestinal graft-versus-host disease, refractory to tacrolimus and steroids, but responsive to pentostatin and photopheresis. The other patient is a 24-year-old white man who had acute leukemia; he underwent allogeneic stem cell transplantation from a matched related donor and received craniospinal irradiation for a central nervous system relapse. After 24 cobalt Gy equivalent, he developed severe cutaneous graft-versus-host disease, sharply delineated within the radiation therapy field, which was responsive to tacrolimus and methylprednisolone. We conclude that graft-versus-host disease within irradiated tissues is an uncommon but potentially serious complication that may follow radiation therapy in patients who have undergone allogeneic stem cell transplantation. Clinicians must be aware of this complication and prepared with strategies to mitigate risk. Patients who have undergone allogeneic stem cell transplantation represent a unique population that may offer novel insight into the pathways involved in radiation-related inflammation.

  4. Susceptibility Testing of Common and Uncommon Aspergillus Species against Posaconazole and Other Mold-Active Antifungal Azoles Using the Sensititre Method.

    PubMed

    Mello, Enrica; Posteraro, Brunella; Vella, Antonietta; De Carolis, Elena; Torelli, Riccardo; D'Inzeo, Tiziana; Verweij, Paul E; Sanguinetti, Maurizio

    2017-06-01

    We tested 59 common and 27 uncommon Aspergillus species isolates for susceptibility to the mold-active azole antifungal agents itraconazole, voriconazole, and posaconazole using the Sensititre method. The overall essential agreement with the CLSI reference method was 96.5% for itraconazole and posaconazole and was 100% for voriconazole. By the Sensititre method as well as the CLSI reference method, all of 10 A. fumigatus isolates with a cyp51 mutant genotype were classified as being non-wild-type isolates (MIC > epidemiological cutoff value [ECV]) with respect to triazole susceptibility. Copyright © 2017 American Society for Microbiology.

  5. Childhood-onset systemic lupus erythematosus in Singapore: clinical phenotypes, disease activity, damage, and autoantibody profiles.

    PubMed

    Tan, J H T; Hoh, S F; Win, M T M; Chan, Y H; Das, L; Arkachaisri, T

    2015-08-01

    Childhood-onset systemic lupus erythematosus (cSLE) is a multisystem autoimmune disease characterized by immune dysregulation affecting patients less than 18 years old. One-fifth of SLE cases are diagnosed during childhood. cSLE presents differently from adults and has a more severe and aggressive course. We describe the clinical and antibody profiles in our cSLE Singapore cohort. All cSLE patients who satisfied the 1997 American College of Rheumatology diagnostic criteria were captured in our lupus registry from January 2009 to January 2014. Data including demographic, cumulative clinical, serologic data, and damage indices were collected. Adjusted mean SLEDAI-2K (AMS) was used to summarize disease activity over multiple visits. Cluster analysis using non-hierarchical K-means procedure was performed on eight selected antibodies. The 64 patients (female:male ratio 5:1; Chinese 45.3%, Malay 28.1%, Indian 9.4%, and other races 17.2%) had a mean onset age of 11.5 years (range 2.1-16.7) and mean age at diagnosis was 11.9 years (range 2.6-18.0). Our study demonstrated differences in clinical manifestations for which hematologic involvement was the most common manifestation with less renal disease and uncommon neurologic manifestation as compared to other cSLE cohorts reported in our region. Antibody clusters were identified in our cohort but their clinical association/discrimination and outcome prediction required further validation study. Outcomes of our cohort in regard to disease activity after therapy and organ damages were comparable if not better to other cSLE cohorts elsewhere. Steroid-related damage, including symptomatic multifocal avascular necrosis and cataract, were not uncommon locally. Infection remains the major cause of death for the continent. Nevertheless, the five year survival rate of our cohort (98.4%) was high. © The Author(s) 2015.

  6. Radiologic and histopathologic review of rare benign and malignant breast diseases

    PubMed Central

    Dağıstan, Emine; Kızıldağ, Betül; Gürel, Safiye; Barut, Yüksel; Paşaoğlu, Esra

    2017-01-01

    High social awareness of breast diseases and the rise in breast imaging facilities have led to an increase in the detection of even rare benign and malignant breast lesions. Breast lesions are associated with a broad spectrum of imaging characteristics, and each radiologic imaging technique reflects different characteristics of them. We aimed to increase familiarity of the radiologist with these uncommon lesions as well as correlate histopathologic findings with the radiologic imaging features of the tumors. Histopathologic examination is necessary in the evaluation of such breast lesions, particularly when radiologic images are not definitive for a specific diagnosis. PMID:28508760

  7. Case Report of Focal Epithelial Hyperplasia (Heck's Disease) with Polymerase Chain Reaction Detection of Human Papillomavirus 13.

    PubMed

    Brehm, Mary A; Gordon, Katie; Firan, Miahil; Rady, Peter; Agim, Nnenna

    2016-05-01

    Focal epithelial hyperplasia (FEH), or Heck's disease, is an uncommon benign proliferation of oral mucosa caused by the human papillomavirus (HPV), particularly subtypes 13 and 32. The disease typically presents in young Native American patients and is characterized by multiple asymptomatic papules and nodules on the oral mucosa, lips, tongue, and gingiva. The factors that determine susceptibility to FEH are unknown, but the ethnic and geographic distribution of FEH suggests that genetic predisposition, particularly having the human lymphocytic antigen DR4 type, may be involved in pathogenesis. We report a case of FEH with polymerase chain reaction detection of HPV13 in a healthy 11-year-old Hispanic girl and discuss the current understanding of disease pathogenesis, susceptibility, and treatment. © 2016 Wiley Periodicals, Inc.

  8. Breast cancer metastases to the thyroid gland - an uncommon sentinel for diffuse metastatic disease: a case report and review of the literature.

    PubMed

    Plonczak, Agata M; DiMarco, Aimee N; Dina, Roberto; Gujral, Dorothy M; Palazzo, Fausto F

    2017-09-22

    Metastases to the thyroid are rare. The most common primary cancer to metastasize to the thyroid is renal cell carcinoma, followed by malignancies of the gastrointestinal tract, lungs, and skin, with breast cancer metastases to the thyroid being rare. Overall, the outcomes in malignancies that have metastasized to the thyroid are poor. There are no prospective studies addressing the role of surgery in metastatic disease of the thyroid. Isolated thyroidectomy has been proposed as a local disease control option to palliate and prevent the potential morbidity of tumor extension related to the airway. Here, we present a case of a patient with breast cancer metastases to the thyroid gland and discuss the role of thyroidectomy in the context of the current literature. A 62-year-old Afro-Caribbean woman was diagnosed as having bilateral breast carcinoma in 2004, for which she underwent bilateral mastectomy. The pathology revealed multifocal disease on the right, T2N0(0/20)M0 grade 1 and 2 invasive ductal carcinoma, and on the left side, T3N1(2/18)M0 grade 1 invasive ductal carcinoma. Surgery was followed by adjuvant chemotherapy and regional radiotherapy. The disease was under control on hormonal therapy until 2016, when she developed cervical lymphadenopathy. The fine-needle aspiration cytology of the thyroid was reported as papillary thyroid cancer; and the fine-needle biopsy of the left lateral nodal disease was more suggestive of breast malignancy. She underwent a total thyroidectomy and a clearance of the central compartment lymph nodes and a biopsy of the lateral nodal disease. The histopathological analysis was consistent with metastatic breast cancer in the thyroid and lymph nodes with no evidence of a primary thyroid malignancy. A past history of a malignancy elsewhere should raise the index of suspicion of metastatic disease in patients presenting with thyroid lumps with or without cervical lymphadenopathy. Detection of metastases to the thyroid generally

  9. Waldmann's Disease (Primary Intestinal Lymphangiectasia) with Atrial Septal Defect.

    PubMed

    Aroor, Shrikiran; Mundkur, Suneel; Kanaparthi, Shravan; Kumar, Sandeep

    2017-04-01

    Waldmann's disease or Primary Intestinal Lymphangiectasia (PIL) is a rare disorder of gastrointestinal tract characterized by dilated lymphatics and widened villi causing leakage of lymph into intestinal lumen. Loss of lymph leads to hypoalbuminemia, hyogammaglobulinemia and lymphopenia. Secondary lymphangiectasia occurs secondary to an elevated lymphatic pressure as in lymphoma, systemic lupus erythematosus, constrictive pericarditis, cardiac surgeries (Fontan's procedure), inflammatory bowel disease and malignancies. We, hereby present a five-year-old male child who presented with abdominal distension and poor weight gain. He had hypoalbuminemia, lymphocytopenia and hypogammaglobulinemia. Upper gastrointestinal endoscopy showed normal gastric mucosa and punctate white lesions in duodenal mucosa with biopsy confirming intestinal lymphangiectasia. Secondary causes of intestinal lymphangiectasia were ruled out. Echocardiography revealed atrial septal defect which is an uncommon association with Waldmann's disease. He was started on low fat, high protein diet and medium chain triglyceride supplementation following which he improved symptomatically. High index of suspicion, early diagnosis and appropriate dietary treatment are necessary to alleviate symptoms as well as to achieve a sustainable growth and development in these children.

  10. Flexible bronchoscopic argon plasma coagulation for management of massive hemoptysis in bronchial Dieulafoy's disease

    PubMed Central

    Madan, Karan; Dhungana, Ashesh; Hadda, Vijay; Mohan, Anant; Guleria, Randeep

    2017-01-01

    Dieulafoy's disease is an uncommon condition, the usual site of occurrence being the gastrointestinal tract. The condition refers to the presence of a dysplastic submucosal artery with mucosal vascular branches that has propensity to cause recurrent bleeding. Dieulafoy's disease of the bronchus is rare. Herein, we describe the case of a 26-year-old male who presented with recurrent bouts of hemoptysis and bronchial Dieulafoy's disease was diagnosed. Flexible bronchoscopy was performed, and argon plasma coagulation (APC) of the bleeding lesion was done. The procedure was successful and was followed by complete eradication of the vascular malformation and cessation of hemoptysis. APC is a useful tool in the armamentarium of an interventional pulmonologist that can allow rapid and safe control of bleeding from superficially located and bleeding endobronchial lesions, and can be easily and effectively applied using a flexible bronchoscope. PMID:28144074

  11. Chronic hypopituitarism is uncommon in survivors of aneurysmal subarachnoid haemorrhage.

    PubMed

    Hannon, M J; Behan, L A; O'Brien, M M; Tormey, W; Javadpour, M; Sherlock, M; Thompson, C J

    2015-01-01

    The incidence of hypopituitarism after aneurysmal subarachnoid haemorrhage (SAH) is unclear from the conflicting reports in the literature. As routine neuroendocrine screening for hypopituitarism for all patients would be costly and logistically difficult, there is a need for precise data on the frequency of hypopituitarism and on factors which might predict the later development of pituitary dysfunction. We aimed to: (i) Establish the incidence of long-term hypopituitarism in patients with aneurysmal SAH. (ii) Determine whether data from patients' acute admission with SAH could predict the occurrence of long-term hypopituitarism. One hundred patients were studied prospectively from the time of presentation with acute SAH. Plasma cortisol, plasma sodium and a variety of clinical and haemodynamic parameters were sequentially measured for the first 12 days of their acute admission. Forty-one patients then underwent dynamic pituitary testing at median 15 months following SAH (range 7-30 months), with insulin tolerance test (ITT) or, if contraindicated, a glucagon stimulation test (GST) plus short synacthen test (SST). If symptoms of cranial diabetes insipidus (CDI) were present, a water deprivation test was also performed. Forty-one patients attended for follow-up dynamic pituitary testing. Although 14 of 100 had acute glucocorticoid deficiency immediately following SAH, only two of 41 had long-term adrenocorticotrophic hormone (ACTH) deficiency and four of 41 had growth hormone (GH) deficiency. None were hypothyroid or gonadotrophin deficient. None had chronic CDI or hyponatraemia. There was no association between acute glucocorticoid deficiency, acute CDI or acute hyponatraemia and long-term pituitary dysfunction. Both anterior and posterior hypopituitarism are very uncommon following SAH and are not predicted by acute clinical, haemodynamic or endocrinological parameters. Routine neuroendocrine screening is not justified in SAH patients. © 2014 John Wiley & Sons

  12. Positioning patients for spine surgery: Avoiding uncommon position-related complications

    PubMed Central

    Kamel, Ihab; Barnette, Rodger

    2014-01-01

    Positioning patients for spine surgery is pivotal for optimal operating conditions and operative-site exposure. During spine surgery, patients are placed in positions that are not physiologic and may lead to complications. Perioperative peripheral nerve injury (PPNI) and postoperative visual loss (POVL) are rare complications related to patient positioning during spine surgery that result in significant patient disability and functional loss. PPNI is usually due to stretch or compression of the peripheral nerve. PPNI may present as a brachial plexus injury or as an isolated injury of single nerve, most commonly the ulnar nerve. Understanding the etiology, mechanism and pattern of injury with each type of nerve injury is important for the prevention of PPNI. Intraoperative neuromonitoring has been used to detect peripheral nerve conduction abnormalities indicating peripheral nerve stress under general anesthesia and to guide modification of the upper extremity position to prevent PPNI. POVL usually results in permanent visual loss. Most cases are associated with prolonged spine procedures in the prone position under general anesthesia. The most common causes of POVL after spine surgery are ischemic optic neuropathy and central retinal artery occlusion. Posterior ischemic optic neuropathy is the most common cause of POVL after spine surgery. It is important for spine surgeons to be aware of POVL and to participate in safe, collaborative perioperative care of spine patients. Proper education of perioperative staff, combined with clear communication and collaboration while positioning patients in the operating room is the best and safest approach. The prevention of uncommon complications of spine surgery depends primarily on identifying high-risk patients, proper positioning and optimal intraoperative management of physiological parameters. Modification of risk factors extrinsic to the patient may help reduce the incidence of PPNI and POVL. PMID:25232519

  13. Intrathoracic tumor of the chest wall: A case of Castleman's disease mimicking myositis of the lower extremities.

    PubMed

    Tampakis, Athanasios; Tampaki, Ekaterini Christina; Daikeler, Thomas; Lardinois, Didier

    2017-11-01

    Castleman's disease refers to a group of uncommon lymphoproliferative disorders which exhibit common lymph-node histological features. A 72-year-old male patient presented with signs of lower limb myositis. Detailed work-up focused initially on evaluating hematological malignancies, the presence of a solid tumor, autoimmune diseases and degenerative disorders of the peripheral nerves. Finally, a PET-CT scan was performed to exclude paraneoplastic manifestations of a primary tumor, revealing  however a tumor of the thoracic wall. The definite histological diagnosis confirmed the presence of unicentric Castleman's disease of the chest wall. The manifestations of the present case suggest that a systemic inflammation might occur in the unicentric form of the disease possibly due to cytokine hypersecretion. The unicentric manifestation of the disease should be well distinguished from the multicentric appearance. Unicentric disease is a surgical condition and warrants a follow-up based on the systemic inflammation that might occur.

  14. Male fertility potential alteration in rheumatic diseases: a systematic review.

    PubMed

    Tiseo, Bruno Camargo; Cocuzza, Marcello; Bonfa, Eloisa; Srougi, Miguel; Silva, Clovis A

    2016-01-01

    Improved targeted therapies for rheumatic diseases were developed recently resulting in a better prognosis for affected patients. Nowadays, patients are living longer and with improved quality of life, including fertility potential. These patients are affected by impaired reproductive function and the causes are often multifactorial related to particularities of each disease. This review highlights how rheumatic diseases and their management affect testicular function and male fertility. A systematic review of literature of all published data after 1970 was conducted. Data was collected about fertility abnormalities in male patients with systemic lupus erythematosus, rheumatoid arthritis, dermatomyositis, ankylosing spondylitis, Behçet disease and gout. Two independent researchers carried out the search in online databases. A total of 19 articles were included addressing the following diseases: 7 systemic lupus erythematosus, 6 Behçet disease, 4 ankylosing spondylitis, 2 rheumatoid arthritis, 2 dermatomyositis and one gout. Systemic lupus erythematosus clearly affects gonadal function impairing spermatogenesis mainly due to antisperm antibodies and cyclophosphamide therapy. Behçet disease, gout and ankylosing spondylitis patients, including those under anti-TNF therapy in the latter disease, do not seem to have reduced fertility whereas in dermatomyositis, the fertility potential is hampered by disease activity and by alkylating agents. Data regarding rheumatoid arthritis is scarce, gonadal dysfunction observed as consequence of disease activity and antisperm antibodies. Reduced fertility potential is not uncommon. Its frequency and severity vary among the different rheumatic diseases. Permanent infertility is rare and often associated with alkylating agent therapy.

  15. World Kidney Day 2016 Averting The Legacy of Kidney Disease-Focus On Childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-03-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. © 2016 European Dialysis and Transplant Nurses Association/European Renal Care Association.

  16. Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): An Uncommon Manifestation of Systemic Lupus Erythematosus (SLE).

    PubMed

    Abraham, Hrudya; Kuzhively, Jose; Rizvi, Syed W

    2017-09-12

    BACKGROUND Chronic inflammatory demyelinating polyneuropathy (CIDP) is an uncommon manifestation of systemic lupus erythematosus (SLE). We report a case of SLE presenting as CIDP and discuss the diagnosis, management, and prognosis of CIDP. CASE REPORT A 40-year-old woman with a past medical history of SLE treated with hydroxychloroquine presented with bilateral, progressive, ascending, sensory and motor neuropathy. Physical examination showed weakness and reduced temperature of all extremities, reduced pinprick and vibration sense of the distal extremities, loss of reflexes, and walking with a wide-based unsteady gait. Laboratory investigations showed positive antinuclear antibodies (ANA), anti-(smooth muscle (SM) antibody, anti-RNP antibody, anti-SSA antibody, anti-ds-DNA antibody, and an erythrocyte sedimentation rate (ESR) of 75 mm/hr, low C4, leukopenia, and anemia. Electromyography (EMG) confirmed the diagnosis of CIDP. The patient's neuropathy and muscle weakness improved on treatment with intravenous immunoglobulin (IVIG) and high-dose steroids. CONCLUSIONS The early clinical diagnosis of CIDP, supported by serological autoantibody profiles associated with SLE, can predict a good response to steroids. Most patients with CIDP are treated successfully with steroids if the diagnosis is made early. IVIG, plasmapheresis, or immunosuppressive therapy should be considered if there is no response to steroids.

  17. Cytological Diagnosis of an Uncommon High Grade Malignant Thyroid Tumour: A Case Report.

    PubMed

    Nagpal, Ruchi; Kaushal, Manju; Kumar, Sawan

    2017-07-01

    Anaplastic Thyroid Carcinoma (ATC) is a relatively uncommon highly malignant tumour originating from the follicular cells of thyroid gland having poor prognosis. It accounts for 2% to 5% of all thyroid carcinomas and patients typically present with a rapidly growing anterior neck mass with aggressive symptoms. A 53-year-old male presented with diffuse neck swelling measuring 8x6 cm and right cervical lymph node measuring 2x2 cm since one month which was associated with dyspepsia and dyspnoea. Ultrasound and Contrast Enhanced Computed Tomography (CECT) neck revealed enlarged right lobe of thyroid and multiple enlarged cervical lymph nodes with soft tissue density nodules in bilateral lungs. Fine Needle Aspiration (FNA) from the swelling revealed giant cell, spindle cell and squamoid pattern. Focal areas showed follicular epithelial cells arranged in repeated microfollicular pattern suggesting an underlying follicular neoplasm. FNAC smears from the lymph node also revealed similar findings. Based on the cytomorphological and radiological findings, final diagnosis of ATC probably arising from underlying follicular carcinoma with cervical lymph node and lung metastasis was given. FNAC leads to prompt and definitive diagnosis, so that therapy can be initiated as soon as possible for better outcome. Multimodality therapy (surgery, external beam radiation, and chemotherapy) is the mainstay of treatment.

  18. Cytological Diagnosis of an Uncommon High Grade Malignant Thyroid Tumour: A Case Report

    PubMed Central

    Kaushal, Manju; Kumar, Sawan

    2017-01-01

    Anaplastic Thyroid Carcinoma (ATC) is a relatively uncommon highly malignant tumour originating from the follicular cells of thyroid gland having poor prognosis. It accounts for 2% to 5% of all thyroid carcinomas and patients typically present with a rapidly growing anterior neck mass with aggressive symptoms. A 53-year-old male presented with diffuse neck swelling measuring 8x6 cm and right cervical lymph node measuring 2x2 cm since one month which was associated with dyspepsia and dyspnoea. Ultrasound and Contrast Enhanced Computed Tomography (CECT) neck revealed enlarged right lobe of thyroid and multiple enlarged cervical lymph nodes with soft tissue density nodules in bilateral lungs. Fine Needle Aspiration (FNA) from the swelling revealed giant cell, spindle cell and squamoid pattern. Focal areas showed follicular epithelial cells arranged in repeated microfollicular pattern suggesting an underlying follicular neoplasm. FNAC smears from the lymph node also revealed similar findings. Based on the cytomorphological and radiological findings, final diagnosis of ATC probably arising from underlying follicular carcinoma with cervical lymph node and lung metastasis was given. FNAC leads to prompt and definitive diagnosis, so that therapy can be initiated as soon as possible for better outcome. Multimodality therapy (surgery, external beam radiation, and chemotherapy) is the mainstay of treatment. PMID:28892908

  19. Serotype IV and invasive group B Streptococcus disease in neonates, Minnesota, USA, 2000-2010.

    PubMed

    Ferrieri, Patricia; Lynfield, Ruth; Creti, Roberta; Flores, Aurea E

    2013-04-01

    Group B Streptococcus (GBS) is a major cause of invasive disease in neonates in the United States. Surveillance of invasive GBS disease in Minnesota, USA, during 2000-2010 yielded 449 isolates from 449 infants; 257 had early-onset (EO) disease (by age 6 days) and 192 late-onset (LO) disease (180 at age 7-89 days, 12 at age 90-180 days). Isolates were characterized by capsular polysaccharide serotype and surface-protein profile; types III and Ia predominated. However, because previously uncommon serotype IV constitutes 5/31 EO isolates in 2010, twelve type IV isolates collected during 2000-2010 were studied further. By pulsed-field gel electrophoresis, they were classified into 3 profiles; by multilocus sequence typing, representative isolates included new sequence type 468. Resistance to clindamycin or erythromycin was detected in 4/5 serotype IV isolates. Emergence of serotype IV GBS in Minnesota highlights the need for serotype prevalence monitoring to detect trends that could affect prevention strategies.

  20. Gonococcal Endocarditis: The Gift That Stops Giving! An Uncommon Presentation of a Common Disease.

    PubMed

    Olayemi, G; Oferczak, M; Elagizi, A; El-Abbassi, I; Eschete, M; Crowe, J

    2017-01-01

    Gonorrhea is the 2nd most common sexually transmitted disease in the US with 800,000 cases of gonorrhea each year. Disseminated gonorrhea infection occurs in 0.5 percent - 3 percent of these patients and is more frequent in woman younger than 40 years of age. A 36 year old woman with a history of polysubstance abuse presented with 10 day history of feeling generally unwell. At presentation, vitals were remarkable for tachycardia and hypotension. Physical exam was remarkable for conjunctival pallor, bibasilar crackles, and tachycardia with grade III/VI systolic murmur loudest over the 2nd inter-costal space and loudest with expiration. No skin lesions were noted. Labs demonstrated leukocytosis (WBC 20,200 with 84 percent neutrophils);, anemia (Hb 6.7);, thrombocytosis (platelets 423 k/uL);, abnormal liver function tests (alkaline phosphatase 239 IU, AST 151 IU ALT 71 IU, albumin 2.5g/dL);, PT/INR 17.1/1.5. Troponin 0.42, BNP 823, D-dimer 619, and a urine drug screen that was positive for benzodiazepines, opiates, barbiturates, amphetamine, and THC. Hep panel and HIV were negative. Chest radiograph showed mild cardiomegaly and early interstitial edema. The patient was placed on broad spectrum antibiotics and given adequate fluid resuscitation and blood products. Blood cultures grew Neisseria gonorrhoeae. 2D ECHO showed a large pedunculated/mobile echo density adherent to the non-coronary and lefts cusps of the aortic valve. Proximal aortic root and aorto-mitral continuity were thickened, consistent with aortitis and/or abscess formation. Initial EKG on arrival showed junctional tachycardia which progressed into complete heart block. Cardiology was consulted and a pacemaker was placed emergently. However despite all aggressive measures the patient died of cardiac complications. Endocarditis is a rare complication of disseminated gonorrhea, occurring in only 1-2 percent of patients with gonoccocemia. The aortic valve is most commonly affected. Valve replacement is

  1. Problem based review: a patient with Parkinson's disease.

    PubMed

    Arora, A; Fletcher, P

    2013-01-01

    Parkinson's disease (PD) is a chronic, progressive neurodegenerative disease characterized by bradykinesia, tremor and/ or rigidity, often with gait disturbance and postural instability. In addition to these typical features, patients with PD may experience further problems related to the disease itself or to the medications used to treat it. These comorbid problems include neuropsychiatric conditions (including psychosis, hallucinations, excessive daytime sleepiness, anxiety, depression, fatigue and dementia) as well as problems associated with autonomic nervous system function such as bowel and bladder function. PD can also present in emergency situations with a 'neuroleptic malignant like picture' and acute psychosis. It is not uncommon to see motor fluctuations due to drug interactions and 'withdrawal' symptoms following dose reduction of dopamine agonists. In patients with PD, disturbances of mental state constitute some of the most difficult treatment challenges of advanced disease, often limiting effective treatment of motor symptoms and leading to increased disability and poor quality of life. While some of these symptoms may be alleviated by antiparkinsonian medication, especially if they are 'off-period' related, treatment-related phenomena are usually exacerbated by increasing the number or dosage of antiparkinsonian drugs. Elimination of exacerbating factors and simplification of drug regimens are the first and most important steps in improvement of such symptoms.

  2. Clinical economics review: medical management of inflammatory bowel disease.

    PubMed

    Ward, F M; Bodger, K; Daly, M J; Heatley, R V

    1999-01-01

    Inflammatory bowel diseases, although they are uncommon and rarely fatal, typically present during the period of economically productive adult life. Patients may require extensive therapeutic intervention as a result of the chronic, relapsing nature of the diseases. Their medical management includes oral and topical 5-amino salicylic acid derivatives and corticosteroids, as well as antibiotics and immunosuppressive therapies. Assessing the cost-effectiveness of rival treatments requires valid, reliable global assessments of outcome which consider quality of life, as well as the usual clinical end-points. Macro-economic studies of the overall impact of inflammatory bowel disease on health care systems have so far been largely confined to North America, where the total annual US costs, both direct and indirect, incurred by the estimated 380 000-480 000 sufferers has been put at around US2bn. Drugs were estimated to account for only 10% of total costs, whereas surgery and hospitalization account for approximately half. Studies from Europe suggest that the proportion of patients with Crohn's disease and ulcerative colitis who are capable of full time work is 75% and 90%, respectively. However, whilst only a minority of inflammatory bowel disease patients suffer chronic ill health and their life expectancy is normal, obtaining life assurance may be problematic, suggesting a misconception that inflammatory bowel disease frequently results in a major impact on an individual's economic productivity.

  3. An Uncommon Case of Type III Endoleak Treated with a Custom-made Thoracic Stent Graft.

    PubMed

    Massara, Mafalda; Barillà, David; Franco, Gaetana; Volpe, Alberto; Serra, Raffaele; De Caridi, Giovanni; Alberti, Antonino; Volpe, Pietro

    2016-08-01

    Endovascular aortic repair (EVAR) has been shown to be a valid and minimally invasive alternative to open abdominal aortic aneurysm repair. A major shortcoming for EVAR is the need to submit patients to regular follow-up to detect potential complications such as endoleak, limb occlusion, aneurysm expansion, aneurysm rupture, infection, structural failure, and migration. In this case report, we describe an uncommon case of late type III endoleak due to complete detachment of the stent-graft main body segment from its suprarenal uncovered fixation stent. It was treated with a custom-made Relay(®) NBS Plus (Bolton Medical, Barcelona, Spain) thoracic stent graft which also provided extra suprarenal fixation of the thoracic stent graft in the proximal neck. The postoperative period was uneventful and a computed tomography scan 1 year later revealed proper positioning of the stent graft and no signs of endoleak. The successful strategy chosen to correct this complication was at the same time original and infrequent, and also avoided potential complications related to open surgical repair and general anesthesia. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Connective tissue disease-associated pulmonary arterial hypertension

    PubMed Central

    Howard, Luke S.

    2015-01-01

    Although rare in its idiopathic form, pulmonary arterial hypertension (PAH) is not uncommon in association with various associated medical conditions, most notably connective tissue disease (CTD). In particular, it develops in approximately 10% of patients with systemic sclerosis and so these patients are increasingly screened to enable early detection. The response of patients with systemic sclerosis to PAH-specific therapy appears to be worse than in other forms of PAH. Survival in systemic sclerosis-associated PAH is inferior to that observed in idiopathic PAH. Potential reasons for this include differences in age, the nature of the underlying pulmonary vasculopathy and the ability of the right ventricle to cope with increased afterload between patients with systemic sclerosis-associated PAH and idiopathic PAH, while coexisting cardiac and pulmonary disease is common in systemic sclerosis-associated PAH. Other forms of connective tissue-associated PAH have been less well studied, however PAH associated with systemic lupus erythematosus (SLE) has a better prognosis than systemic sclerosis-associated PAH and likely responds to immunosuppression. PMID:25705389

  5. Averting the legacy of kidney disease--focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-03-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and chronic kidney disease in later childhood or in adult life. Children born early or who are small-for-date newborns have a relatively increased risk for the development of chronic kidney disease later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced chronic kidney disease in childhood; there is evidence that children fare better than adults if they receive kidney replacement therapy including dialysis and transplant, whereas only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers, and caregivers about the needs and possibilities surrounding kidney disease in childhood. Copyright © 2016 World Kidney Day 2016 Steering Committee. Published by Elsevier Inc. All rights reserved.

  6. Atypical presentation of acute and chronic coronary artery disease in diabetics

    PubMed Central

    Khafaji, Hadi AR Hadi; Suwaidi, Jassim M Al

    2014-01-01

    In patients with diabetes mellitus, cardiovascular disease is the principal cause of mortality and chest pain is the most frequent symptom in patients with stable and acute coronary artery disease. However, there is little knowledge concerning the pervasiveness of uncommon presentations in diabetics. The symptomatology of acute coronary syndrome, which comprises both pain and non-pain symptoms, may be affected by traditional risk factors such as age, gender, smoking, hypertension, diabetes, and dyslipidemia. Such atypical symptoms may range from silent myocardial ischemia to a wide spectrum of non-chest pain symptoms. Worldwide, few studies have highlighted this under-investigated subject, and this aspect of ischemic heart disease has also been under-evaluated in the major clinical trials. The results of these studies are highly diverse which makes definitive conclusions regarding the spectrum of atypical presentation of acute and even stable chronic coronay artery disease difficult to confirm. This may have a significant impact on the morbidity and mortality of coronary artery disease in diabetics. In this up-to-date review we will try to analyze the most recent studies on the atypical presentations in both acute and chronic ischemic heart disease which may give some emphasis to this under-investigated topic. PMID:25228959

  7. Cancer Risk in Astronauts: A Constellation of Uncommon Consequences

    NASA Technical Reports Server (NTRS)

    Milder, Caitlin M.; Elgart, S. Robin; Chappell, Lori; Charvat, Jaqueline M.; Van Baalen, Mary; Huff, Janice L.; Semones, Edward J.

    2017-01-01

    Excess cancers resulting from external radiation exposures have been noted since the early 1950s, when a rise in leukemia rates was first reported in young atomic bomb survivors [1]. Further studies in atomic bomb survivors, cancer patients treated with radiotherapy, and nuclear power plant workers have confirmed that radiation exposure increases the risk of not only leukemia, but also a wide array of solid cancers [2,3]. NASA has long been aware of this risk and limits astronauts' risk of exposure-induced death (REID) from cancer by specifying permissible mission durations (PMD) for astronauts on an individual basis. While cancer is present among astronauts, current data does not suggest any excess of known radiation-induced cancers relative to a comparable population of U.S. adults; however, very uncommon cancers have been diagnosed in astronauts including nasopharyngeal cancer, lymphoma of the brain, and acral myxoinflammatory fibroblastic sarcoma. In order to study cancer risk in astronauts, a number of obstacles must be overcome. Firstly, several factors make the astronaut cohort considerably different from the cohorts that have previously been studied for effects resulting from radiation exposure. The high rate of accidents and the much healthier lifestyle of astronauts compared to the U.S. population make finding a suitable comparison population a problematic task. Space radiation differs substantially from terrestrial radiation exposures studied in the past; therefore, analyses of galactic cosmic radiation (GCR) in animal models must be conducted and correctly applied to the human experience. Secondly, a large enough population of exposed astronauts must exist in order to obtain the data necessary to see any potential statistically significant differences between the astronauts and the control population. Thirdly, confounders and effect modifiers, such as smoking, diet, and other space stressors, must be correctly identified and controlled for in those

  8. Esthesioneuroblastoma (Olfactory Neuroblastoma) with Ectopic ACTH Syndrome: a multidisciplinary case presentation from the Joan Karnell cancer center of Pennsylvania Hospital.

    PubMed

    Mintzer, David M; Zheng, Sarah; Nagamine, Michiko; Newman, Jason; Benito, Maria

    2010-01-01

    The case of a patient with recurrent esthesioneuroblastoma complicated by ectopic adrenocorticotropic hormone production is presented, including the workup and management of this uncommon complication of an uncommon disease.

  9. Analysis of readability and quality of web pages addressing both common and uncommon topics in pediatric surgery.

    PubMed

    Adorisio, Ottavio; Silveri, Massimiliano; Rivosecchi, Massimo; Tozzi, Alberto Eugenio; Scottoni, Federico; Buonuomo, Paola Sabrina

    2012-06-01

    The quality medical information on Internet is highly variable. The aim of this study is to determine if Web pages addressing four common pediatric surgical topics (CT) and four uncommon pediatric surgical topics (UT) differ significantly in terms of quality and/or characteristics. We performed an Internet search regarding four CT, addressing more frequent clinical conditions with an incidence≤1:1.500 children (inguinal hernia, varicocele, umbilical hernia, and phimosis) and four UT addressing less frequent clinical conditions with an incidence≥1:1.500 children (anorectal malformation, intestinal atresia, gastroschisis, and omphalocele), using a popular search engine (Google). We evaluated readability with the Flesch reading ease (FRE) and the Flesch-Kincaid grade (FKG) and quality of content using the site checker of the HON Code of Conduct (HON code) for each website. In this study, 30/40 websites addressing CT versus 33/50 addressing UT responded to our criteria. No differences statistically significant in advertisements between the two groups were found (15 vs. 16%) (p>0.05). No differences were found in terms of time from last update, owner/author type, financial disclosure, accreditation, or advertising. CT had higher quality level according to the HON code (6.54±1.38 vs. 5.05±1.82) (p<0.05). Mean FRE was 47.38±14.27 versus 46.24±14.56, respectively, for CT and UT (p>0.05). The mean FKG was 8.1±1.9 for CT versus 8±1.9 for UT (p>0.05). Websites devoted to pediatric surgical topics have higher readability and quality information for disease diagnosis and natural history. Otherwise, the quality of pediatric surgical information on the Internet is high for CT and UT. A high reading level is required to use these resources. Copyright © 2012 by Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  10. Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease.

    PubMed

    Priyamvada, P S; Morkhandikar, S; Srinivas, B H; Parameswaran, S

    2015-01-01

    Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig) light chains. In heavy chain amyloidosis (AH), deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL), the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda) AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.

  11. Quetiapine effective in treatment of inappropriate sexual behavior of lewy body disease with predominant frontal lobe signs.

    PubMed

    Prakash, Ravi; Pathak, Amit; Munda, Sanjay; Bagati, Dhruv

    2009-01-01

    Dementia of Lewy body disease is the second most common degenerative cause of dementia after Alzheimer's disease, among all the dementias. The core features are a progressive dementia, fluctuations in cognitive functions, visual hallucinations, and spontaneous parkinsonism. Rapid eye movement sleep behavior disorder, severe neuroleptic sensitivity, and low dopamine transporter uptake in basal ganglia are other suggestive features. Behavioral abnormalities are commonly present in the form of aggressive behavior, irritability, and uninhibited behaviors. These are mostly seen in the advanced stages of dementia. However, inappropriate sexual behavior is uncommonly seen in such cases. Three types of inappropriate sexual behaviors commonly found in cases of dementia are sex talks, sexual acts, and implied sexual acts. Such inappropriate sexual behaviors have not been described adequately in dementia of Lewy body disease. We report inappropriate sexual behaviors in a case of dementia of Lewy body disease, which improved rapidly after treatment with quetiapine.

  12. Averting the legacy of kidney disease - Focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-03-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  13. Averting the legacy of kidney disease: focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-04-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  14. Averting the Legacy of Kidney Disease - Focus on Childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. © 2016 S. Karger AG, Basel.

  15. Averting the legacy of kidney disease - focus on childhood.

    PubMed

    Ingelfinger, J R; Kalantar-Zadeh, K; Schaefer, F

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, in that the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease as a consequence of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for-date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, although only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that the World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  16. Averting the Legacy of Kidney Disease - Focus on Childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for-date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. © 2016 S. Karger AG, Basel.

  17. Averting the Legacy of Kidney Disease: Focus on Childhood.

    PubMed

    Ingelfinger, J R; Kalantar-Zadeh, K; Schaefer, F

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for-date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policymakers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  18. Averting the legacy of kidney disease: focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-06-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  19. Averting the legacy of kidney disease - focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-04-08

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group amongst children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertensionand CKD in later childhood or in adult life. Children born early or who are small-for-date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely to help to detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, whilst only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic oreconomic circumstances. Our hope is that World Kidney Day will inform the general public, policymakers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  20. Averting the Legacy of Kidney Disease - Focus on Childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-04-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  1. Averting the Legacy of Kidney Disease--Focus on Childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. © 2016 S. Karger AG, Basel.

  2. Averting the legacy of kidney disease-focus on childhood.

    PubMed

    Ingelfinger, Julie R; Schaefer, Franz; Kalantar-Zadeh, Kamyar

    2016-03-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  3. Technique of Dynamic Flexor Digitorum Superficialis Transfer to Lateral Bands for Proximal Interphalangeal Joint Deformity Correction in Severe Dupuytren Disease.

    PubMed

    Schreck, Michael J; Holbrook, Hayden S; Koman, L Andrew

    2018-02-01

    Pseudo-boutonniere deformity is an uncommon complication from long-standing proximal interphalangeal (PIP) joint contracture in Dupuytren disease. Prolonged flexion contracture of the PIP joint can lead to central slip attenuation and resultant imbalances in the extensor mechanism. We present a technique of flexor digitorum superficialis (FDS) tendon transfer to the lateral bands to correct pseudo-boutonniere deformity at the time of palmar fasciectomy for the treatment of Dupuytren disease. The FDS tendon is transferred from volar to dorsal through the lumbrical canal and sutured into the dorsally mobilized lateral bands. This technique presents an approach to the repair of pseudo-boutonniere deformity in Dupuytren disease. Copyright © 2018 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  4. Coexistent findings of renal glomerular disease with Hashimoto's thyroiditis.

    PubMed

    Koçak, Gülay; Huddam, Bülent; Azak, Alper; Ortabozkoyun, Levent; Duranay, Murat

    2012-05-01

    Hashimoto's thyroiditis (HT) is a common autoimmune thyroid disease with a female preponderance. Renal involvement in HT is not uncommon. In the present study, we aimed to define the frequency and characteristics of the glomerular diseases associated with HT and further the understanding of any common pathogenesis between HT and glomerular disease. We reviewed retrospectively 28 patients with HT who were referred to our Department because of unexplained haematuria, proteinuria or renal impairment from 2007 to 2011. Routine laboratory investigations including blood count, serum biochemistry, urinalysis and 24-h urinary protein excretion were performed on all patients. Renal biopsy was performed in 20 patients with HT, and the specimens were examined by light microscopy and immunofluorescence staining. We detected four cases of focal segmental glomerulosclerosis (FSGS), four membranous glomerulonephritis (MGN), two minimal-change disease (MCD), three immunoglobulin A nephritis (IgAN), three chronic glomerulonephritis (CGN) and one amyloidosis. In three patients, the renal biopsy findings were nonspecific. Daily urinary protein excretion and glomerular filtration rates were found to be independent of the level of thyroid hormone and thyroid-specific autoantibodies. Glomerular pathologies associated with HT are similar to those in the general population, the most common lesions being MGN, FSGS and IgA nephritis. © 2012 Blackwell Publishing Ltd.

  5. Male fertility potential alteration in rheumatic diseases: a systematic review

    PubMed Central

    Tiseo, Bruno Camargo; Cocuzza, Marcello; Bonfá, Eloisa; Srougi, Miguel; Clovis, A

    2016-01-01

    ABSTRACT Background Improved targeted therapies for rheumatic diseases were developed recently resulting in a better prognosis for affected patients. Nowadays, patients are living longer and with improved quality of life, including fertility potential. These patients are affected by impaired reproductive function and the causes are often multifactorial related to particularities of each disease. This review highlights how rheumatic diseases and their management affect testicular function and male fertility. Materials and Methods A systematic review of literature of all published data after 1970 was conducted. Data was collected about fertility abnormalities in male patients with systemic lupus erythematosus, rheumatoid arthritis, dermatomyositis, ankylosing spondylitis, Behçet disease and gout. Two independent researchers carried out the search in online databases. Results A total of 19 articles were included addressing the following diseases: 7 systemic lupus erythematosus, 6 Behçet disease, 4 ankylosing spondylitis, 2 rheumatoid arthritis, 2 dermatomyositis and one gout. Systemic lupus erythematosus clearly affects gonadal function impairing spermatogenesis mainly due to antisperm antibodies and cyclophosphamide therapy. Behçet disease, gout and ankylosing spondylitis patients, including those under anti-TNF therapy in the latter disease, do not seem to have reduced fertility whereas in dermatomyositis, the fertility potential is hampered by disease activity and by alkylating agents. Data regarding rheumatoid arthritis is scarce, gonadal dysfunction observed as consequence of disease activity and antisperm antibodies. Conclusions Reduced fertility potential is not uncommon. Its frequency and severity vary among the different rheumatic diseases. Permanent infertility is rare and often associated with alkylating agent therapy. PMID:27120778

  6. Esthesioneuroblastoma (Olfactory Neuroblastoma) with Ectopic ACTH Syndrome: A Multidisciplinary Case Presentation from the Joan Karnell Cancer Center of Pennsylvania Hospital

    PubMed Central

    Zheng, Sarah; Nagamine, Michiko; Newman, Jason; Benito, Maria

    2010-01-01

    The case of a patient with recurrent esthesioneuroblastoma complicated by ectopic adrenocorticotropic hormone production is presented, including the workup and management of this uncommon complication of an uncommon disease. PMID:20053760

  7. [Supra-aortic trunks occlusive disease: three different treatment approaches].

    PubMed

    Dias, P; Almeida, P; Sampaio, S; Silva, A; Leite-Moreira, A; Pinho, P; Roncon de Albuquerque, R

    2010-01-01

    Unlike carotid bifurcation atherosclerotic stenosis, supra-aortic trunks (SAT) occlusive disease is rare and its revascularization uncommon, accouting for less than 10% of the operations performed on the extracranial brain-irrigating arteries. There are three different treatment approaches: transthoracic, extra-anatomic cervical and endovascular. Endovascular repair is gaining popularity as first-line therapy for proximal lesions with favorable anatomy because of its low morbidity and rare mortality. Extra-anatomic bypass is a safe and durable reconstruction and should be considered in patients with single vessel disease, with cardiopulmonary high-risk or with limited life expectancy. If cardiac surgery is needed, central transthoracic reconstruction is preferable, and the two procedures should be combined. The long-term patency of bypasses with aortic origin, specially when multiple vessels are involved, is superior to other repair techniques. We present three clinical cases that illustrate each of these therapeutic strategies: central brachiocephalic revascularization and synchronous cardiac surgery in a patient with complex SAT atherosclerosis disease; subclavian-carotid transposition for disabling upper limb claudication; and subclavian artery stenting for subclavian-steal syndrome. Surgical approach selection should be based on the individual patient's anatomy and operative risk.

  8. Chronobiology in aortic diseases - "is this really a random phenomenon?".

    PubMed

    Manfredini, Roberto; Fabbian, Fabio; Manfredini, Fabio; Salmi, Raffaella; Gallerani, Massimo; Bossone, Eduardo

    2013-01-01

    Although acute aortic rupture or dissection is relatively uncommon, it ranks in third position among necropsy-confirmed causes of out-of-hospital sudden death in the general population. Similar to other acute cardiovascular events (e.g., acute myocardial infarction, sudden death, stroke, and pulmonary embolism) there is a growing body of evidence regarding temporal patterns in onset, characterized by circadian, seasonal and weekly variations for aortic aneurysms. On one hand, it is possible that these cardiovascular diseases share common underlying pathophysiologic mechanisms, e.g., increase in blood pressure, heart rate, sympathetic activity, basal vascular tone, vasoconstrictive hormones, and prothrombotic tendency. On the other hand, the possibility exists that the connecting link is an internal disruption (dyssynchrony) of some molecular mechanisms intrinsic to the peripheral biological clock (that of cardiomyocyte is the most widely investigated). Such disruption may contribute to cardiovascular disease and biological rhythms - an intriguing hypothesis for future research. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Serious complications within 30 days of screening and surveillance colonoscopy are uncommon

    PubMed Central

    Ko, Cynthia W.; Riffle, Stacy; Michaels, LeAnn; Morris, Cynthia; Holub, Jennifer; Shapiro, Jean A.; Ciol, Marcia A.; Kimmey, Michael B.; Seeff, Laura C.; Lieberman, David

    2009-01-01

    Background & Aims The risk of serious complications after colonoscopy has important implications for the overall benefits of colorectal cancer screening programs. We evaluated the incidence of serious complications within 30 days after screening or surveillance colonoscopies in diverse clinical settings and to identify potential risk factors for complications. Methods Patients age 40 and over undergoing colonoscopy for screening, surveillance, or evaluation based an abnormal result from another screening test were enrolled through the National Endoscopic Database (CORI). Patients completed a standardized telephone interview approximately 7 and 30 days after their colonoscopy. We estimated the incidence of serious complications within 30 days of colonoscopy and identified risk factors associated with complications using logistic regression analyses. Results 21,375 patients were enrolled. Gastrointestinal bleeding requiring hospitalization occurred in 34 patients (incidence 1.59/1000 exams; 95% confidence interval [CI] 1.10–2.22). Perforations occurred in 4 patients (0.19/1000 exams; 95% CI 0.05–0.48), diverticulitis requiring hospitalization in 5 patients (0.23/1000 exams; 95% CI 0.08–0.54), and post-polypectomy syndrome in 2 patients (0.09/1000 exams; 95%CI 0.02–0.30). The overall incidence of complications directly related to colonoscopy was 2.01 per 1000 exams (95%CI 1.46–2.71). Two of the four perforations occurred without biopsy or polypectomy. The risk of complications increased with pre-procedure warfarin use and performance of polypectomy with cautery. Conclusions Complications after screening or surveillance colonoscopy are uncommon. Risk factors for complications include warfarin use and polypectomy with cautery. PMID:19850154

  10. Non perianal fistulas in Crohn's disease and short bowel syndrome: what we can do?

    PubMed

    Zildzic, Muharem; Alibegovic, Ervin

    2009-01-01

    Crohn's disease (CD) is a lifelong disease arising from an interaction between genetic and environmental factors, but seen predominantly in the developed countries of the world. The precise etiology is unknown and therefore a causal treatment is not yet available. Fistulating Crohn's disease includes fistulas arising in the perianal area, together with those communicating between the intestine and other organs or the abdominal wall. Non perianal fistulas include fistulas communicating with other viscera (urinary bladder, vagina), loops of intestine (enteroenteral fistulas) or the abdominal wall (enterocutaneus fistulas). The diagnostic approach is a crucial aspect in the management of fistulating CD as the findings influence the therapeutic strategy. Short bowel syndrome caused by extensive bowel resection should be initially treated with nutritional support and can caused serious treatment and reevaluating problems. We review this uncommon manifestation in a high risk patient after multiple operations and severely shortened bowel and also with non perianal fistulating CD.

  11. The Iron Hill (Powderhorn) Carbonatite Complex, Gunnison County, Colorado - A Potential Source of Several Uncommon Mineral Resources

    USGS Publications Warehouse

    Van Gosen, Bradley S.

    2009-01-01

    A similar version of this slide show was presented on three occasions during 2008: two times to local chapters of the Society for Mining, Metallurgy, and Exploration (SME), as part of SME's Henry Krumb lecture series, and the third time at the Northwest Mining Association's 114th Annual Meeting, held December 1-5, 2008, in Sparks (Reno), Nevada. In 2006, the U.S. Geological Survey (USGS) initiated a study of the diverse and uncommon mineral resources associated with carbonatites and associated alkaline igneous rocks. Most of these deposit types have not been studied by the USGS during the last 25 years, and many of these mineral resources have important applications in modern technology. The author chose to begin this study at Iron Hill in southwestern Colorado because it is the site of a classic carbonatite complex, which is thought to host the largest known resources of titanium and niobium in the United States.

  12. Genetics of gallstone disease.

    PubMed

    Rebholz, Charlotte; Krawczyk, Marcin; Lammert, Frank

    2018-04-10

    Gallstone disease (GD) belongs to the most frequent disorders in gastroenterology and causes high costs in our health-care systems. Gallstones are uncommon in children but frequent in adults, in particular in women, and are triggered by exogenous risk factors. Here, we summarize the current knowledge concerning the contribution of inherited predisposition to gallstone risk. In this review, we present the current data and recent research on the genetics of gallstone disease. Several GD-predisposing gene variants have been reported, with most prominent effects being conferred by a common variant (p.D19H) of the hepatic and intestinal cholesterol transporter ABCG5/G8. A smaller group of patients might develop gallstones primarily due low phosphatidylcholine concentrations in bile as a result of loss-of-function mutations of the ABCB4 transporter (low phospholipid-associated cholelithiasis syndrome). Regardless of the origin, the risk factors for gallstones lead to the supersaturation of bile with insoluble compounds, in particular cholesterol. As result, cholesterol stones develop and present the most frequent type of gallstones. Laparoscopic cholecystectomy with low morbidity and mortality is currently the most common and effective method for the therapy of symptomatic gallbladder stones. Gallstone disease represents a multifactorial condition and previous studies have identified the major genetic contributors to gallstone formation. The increasing knowledge about the pathomechanisms of hepatobiliary metabolism and GD as well as the identification of additional risk factors might help to overcome the current invasive therapy by specific lifestyle intervention and precise molecular treatment. © 2018 Stichting European Society for Clinical Investigation Journal Foundation.

  13. Paediatric Inflammatory Bowel Disease: Clinical Presentation and Disease Location.

    PubMed

    Aziz, Danish Abdul; Moin, Maryum; Majeed, Atif; Sadiq, Kamran; Biloo, Abdul Gaffar

    2017-01-01

    patients withCD in comparison with other categories of IBD. Endoscopic findings and relevant histopathology of biopsy samples in UC showed 65% patient had pan-colitis and 13 % with disease restricted to rectum only whereas in CD 70% patient had disease in ileo-colon and only 10 % had involvement of ileum at the time diagnosis. Patients with UC dominated in our cohort. The most common clinical presentation in UC was bloody diarrhea and rectal bleeding and patients with CDhad abdominal pain and chronic diarrhea as predominant clinical features. Extraintestinal features were uncommon in our cohort. In endoscopic findings, pan-colitis was the mostfrequentfinding in UC and ileo-colonwas common location in CD. IC and UC shared common clinical features and disease location on endoscopy.

  14. Early interstitial lung disease in microscopic polyangiitis: Case report and literature review.

    PubMed

    García-Nava, Marcos; Mateos-Toledo, Heidegger; Guevara-Canseco, Ana Patricia Georgina; Infante-González, Cesar Eduardo; Reyes-Nava, Diego Alberto; Estrada-Castro, Emilio

    Microscopic polyangiitis (MPA) is a systemic disease included in the Chapel Hill 2012 Classification as necrotizing vasculitis affecting capillaries, venules and arterioles. It usually expresses antineutrophil cytoplasmic antibodies (ANCA) and has a perinuclear immunofluorescence pattern and correlation with anti-myeloperoxidase (MPO) antibodies. Capillaritis with alveolar hemorrhage is the most common manifestation of lung disease. Interstitial lung disease (ILD) is uncommon, with usual interstitial pneumonia being the predominant pattern. However, other patterns such as organizing pneumonia have been described. No guidelines exist for treating patients with ILD and, currently, ANCA-associated vasculitis (AAV) is managed along the lines of small vessel vasculitis. The prognosis with this association is uncertain, with possibilities of relapse and a fatal outcome. We present a case in which ILD was the first manifestation of MPA, without alveolar hemorrhage, with subsequent renal involvement and, in which, the established treatment produced a significant clinical improvement. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  15. Diverticular disease of the right colon.

    PubMed

    Radhi, Jasim M; Ramsay, Jennifer A; Boutross-Tadross, Odette

    2011-10-06

    The incidence of colonic diverticular disease varies with national origin, cultural background and diet. The frequency of this disease increases with advancing age. Right-sided diverticular disease is uncommon and reported to occur in 1-2% of surgical specimens in European and American series. In contrast the disease is more prevalent and reported in 43-50% of specimens in Asian series. Various lines of evidence suggest this variation may represent hereditary differences. The aim of the study is to report all cases of right sided diverticular disease underwent surgical resection or identified during pathological examination of right hemicoloectomy specimens A retrospective review of all surgical specimens with right sided colonic diverticular disease selected from a larger database of all colonic diverticulosis and diverticulitis surgical specimen reported between January 1993 and December 2010 at the Pathology Department McMaster University Medical Centre Canada. The clinical and pathological features of these cases were reviewed The review identified 15 cases of right colon diverticulosis. The clinical diagnoses of these cases were appendicitis, diverticulitis or adenocarcinoma. Eight cases of single congenital perforated diverticuli were identified and seven cases were incidental multiple acquired diverticuli found in specimen resected for right side colonic carcinomas/large adenomas. Laparotomy or laparoscopic assisted haemicolectomies were done for all cases. Pathological examination showed caecal wall thickening with inflammation associated with perforated diverticuli. Histology confirmed true solitary diverticuli that exhibited in two cases thick walled vessels in the submucosa and muscular layer indicating vascular malformation/angiodysplasia. Acquired diverticuli tend to be multiple and are mostly seen in specimens resected for neoplastic right colon diseases. Single true diverticular disease of the right colon is usually of congenital type and affects

  16. Rare disease surveillance: An international perspective

    PubMed Central

    Elliott, Elizabeth J; Nicoll, Angus; Lynn, Richard; Marchessault, Victor; Hirasing, Remy; Ridley, Greta

    2001-01-01

    BACKGROUND: The International Network of Paediatric Surveillance Units (INoPSU) was established in 1998 and met formally for the first time in Ottawa, Ontario in June 2000. OBJECTIVES: To document the methodology and activities of existing national paediatric surveillance units; the formation of INoPSU; the diseases studied by INoPSU members; and the impact of such studies on education, public health and paediatric practice. METHODS: Directors of paediatric surveillance units in Australia, Britain, Canada, Germany, the Netherlands, Latvia, Malaysia, Papua New Guinea, New Zealand and Switzerland were asked to provide information on each unit’s affiliations, funding and staffing; the method of case ascertainment, the mailing list and response rates; and diseases studied. Original articles that reported data derived from units were identified by a search of an electronic database (MEDLINE), and additional information was obtained from units’ annual reports. RESULTS: Worldwide, 10 units (established from 1986 to 1997), use active national surveillance of more than 8500 clinicians each month to identify cases of rare or uncommon diseases in a childhood population (younger than 15 years of age) of over 47 million (monthly response rate 73% to 98%). By January 1999, units had initiated 147 studies on 103 different conditions, and 63 studies were completed. CONCLUSION: INoPSU enhances collaboration among units from four continents, providing a unique opportunity for simultaneous cross-sectional studies of rare diseases in populations with diverse geographical and ethnic characteristics. It facilitates the sharing of ideas regarding current methodology, ethics, the most appropriate means of evaluating units and their potential application. PMID:20084246

  17. Radiofrequency Ablation of Left Atrial Reentrant Tachycardias in Rheumatic Mitral Valve Disease: A Case Series.

    PubMed

    Prabhu, Mukund A; Thajudeen, Anees; Vk, Ajit Kumar; J, Tharakan; B V, Prasad Srinivas; Namboodiri, Narayanan

    2017-01-01

    Left atrial (LA) reentrant tachycardias are not uncommon in regions where rheumatic heart disease is prevalent. Some of these arrhythmias may be curable by radiofrequency ablation (RFA). However, there are limited data pertaining to this in existing literature. Three patients who had rheumatic mitral valve disease with past history of surgical-/catheter-based intervention and having no significant residual disease had symptomatic atrial flutter despite optimal medical management. An electrophysiological study confirmed an LA focal/micro-reentrant mechanism in all. There was patchy scarring of the LA, and successful RFA of these arrhythmias could be achieved. The focal nature of the scar in these patients may suggest that the rheumatic involvement of the atrium or the hemodynamic consequence of the vulvar lesion causes nonuniform insult to the atrial tissue and limited scar. At least in some patients with limited scarring, early RFA may help in the maintenance of sinus rhythm. © 2016 Wiley Periodicals, Inc.

  18. An outbreak of salmonella chester infection in Canada: rare serotype, uncommon exposure, and unusual population demographic facilitate rapid identification of food vehicle.

    PubMed

    Taylor, John; Galanis, Eleni; Wilcott, Lynn; Hoang, Linda; Stone, Jason; Ekkert, Judi; Quibell, Doug; Huddleston, Mark; McCormick, Rachel; Whitfield, Yvonne; Adhikari, Bijay; Grant, Christopher C R; Sharma, Davendra

    2012-04-01

    Salmonella Chester infection has rarely been reported in the literature. In 2010, 33 case patients were reported in 2 months in four Canadian provinces. We conducted an outbreak investigation in collaboration with public health agencies, food safety specialists, regulatory agencies, grocery store chains, and the product distributor. We used case patient interviews, customer loyalty cards, and microbiological testing of clinical and food samples to identify nationally distributed head cheese as the food vehicle responsible for the outbreak. The rare serotype, a limited affected demographic group, and an uncommon exposure led to the rapid identification of the source. Control measures were implemented within 9 days of notification of the outbreak.

  19. [Rumination syndrome: Diagnostic and therapeutic difficulties of a not so uncommon disorder].

    PubMed

    Giménez Casado, Aida; López Liñán, María José; Barba Orozco, Elisabeth; Accarino Garaventa, Anna; Álvarez Beltrán, Marina; Azpiroz Vidaur, Fernando; Segarra Cantón, Oscar

    2018-02-01

    Rumination syndrome is an uncommon gastrointestinal functional disorder that may be difficult to diagnose, as not many physicians are aware of this condition. In many cases, patients undergo numerous tests and are prescribed several treatments based on erroneous diagnoses. When the correct diagnosis is eventually made, therapy for the syndrome can be difficult and complex because of its multifactorial nature. The aim of this study was to present our experience with this condition, by presenting an analysis of the clinical, diagnostic, and therapeutic data of our patients. A prospective and retrospective study was conducted on all cases of rumination syndrome diagnosed between January 2010 and May 2016 in patients attending the Paediatric Gastroenterology Departments of two hospitals: Consorci Sanitari de Terrassa and Hospital Materno-Infantil Vall d'Hebron (Barcelona, Spain). The analysis included 12 patients, with a mean age at the onset of symptoms of 9 years and 1 month, and the mean time period to make the diagnosis was 2 years and 3 months. A mean of 8.1 complementary tests were carried out before establishing the diagnosis. In 10 of the 12 patients, some type of treatment had been given before the diagnosis of rumination syndrome, but was unsuccessful in all cases. Ten of our patients underwent the novel, experimental biofeedback therapy. Due to the limited knowledge of this condition among attending professionals in terms of the clinical presentation, diagnosis, and treatment, patients with rumination syndrome are often misdiagnosed and undergo numerous avoidable complementary tests, and invasive, costly treatments. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  20. Graves' disease presenting as bi-ventricular heart failure with severe pulmonary hypertension and pre-eclampsia in pregnancy--a case report and review of the literature.

    PubMed

    Sabah, Khandker Mohammad Nurus; Chowdhury, Abdul Wadud; Islam, Mohammad Shahidul; Cader, Fathima Aaysha; Kawser, Shamima; Hosen, Md Imam; Saleh, Mohammed Abaye Deen; Alam, Md Shariful; Chowdhury, Mohammad Monjurul Kader; Tabassum, Humayara

    2014-11-18

    Graves' disease, a well-known cause of hyperthyroidism, is an autoimmune disease with multi-system involvement. More prevalent among young women, it appears as an uncommon cardiovascular complication during pregnancy, posing a diagnostic challenge, largely owing to difficulty in detecting the complication, as a result of a low index of suspicion of Graves' disease presenting during pregnancy. Globally, cardiovascular disease is an important factor for pregnancy-related morbidity and mortality. Here, we report a case of Graves' disease detected for the first time in pregnancy, in a patient presenting with bi- ventricular heart failure, severe pulmonary hypertension and pre- eclampsia. Emphasis is placed on the spectrum of clinical presentations of Graves' disease, and the importance of considering this thyroid disorder as a possible aetiological factor for such a presentation in pregnancy. A 30-year-old Bangladeshi-Bengali woman, in her 28th week of pregnancy presented with severe systemic hypertension, bi-ventricular heart failure and severe pulmonary hypertension with a moderately enlarged thyroid gland. She improved following the administration of high dose intravenous diuretics, and delivered a premature female baby of low birth weight per vaginally, twenty four hours later. Pre-eclampsia was diagnosed on the basis of hypertension first detected in the third trimester, 3+ oedema and mild proteinuria. Electrocardiography revealed sinus tachycardia with incomplete right bundle branch block and echocardiography showed severe pulmonary hypertension with an estimated pulmonary arterial systolic pressure of 73 mm Hg, septal and anterior wall hypokinesia with an ejection fraction of 51%, grade I mitral and tricuspid regurgitation. Thyroid function tests revealed a biochemically hyperthyroid state and positive anti- thyroid peroxidase antibodies was found. (99m)Technetium pertechnetate thyroid scans demonstrated diffuse toxic goiter as evidenced by an enlarged thyroid

  1. Cough associated with gastro-oesophageal reflux disease (GORD): Japanese experience.

    PubMed

    Niimi, Akio

    2017-12-01

    Differences in the aetiology as well as patient background of chronic cough have been recognised among US, UK, and Japan. One of the marked differences has been the prevalence of gastro-oesophageal reflux disease (GORD), which has been one of the top three causes in Western countries. It was indeed uncommon or rare in Japan, but, with the increasing prevalence of GOR itself, chronic cough associated with GORD seems to have become more common. In this article, cough associated with GORD will be reviewed based on literature and our Japanese experience. Further, potentially broader relevance of GORD in chronic cough will also be mentioned, highlighting the potential importance of dysmotiliy/non-acid reflux. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. A case report of chronic granulomatous disease presenting with aspergillus pneumonia in a 2-month old girl.

    PubMed

    Lee, Eun; Oh, Seak Hee; Kwon, Ji Won; Kim, Byoung Ju; Yu, Jinho; Park, Chan Jeoung; Hong, Soo Jong

    2010-06-01

    Chronic granulomatous disease (CGD) is an uncommon inherited disorder caused by mutations in any of the genes encoding subunits of the superoxide-generating phagocyte NADPH oxidase system, which is essential for killing catalase producing bacteria and fungi, such as Aspergillus species, Staphylococcus aureus, Serratia marcescens, Nocardia species and Burkholderia cepacia. In case of a history of recurrent or persistent infections, immune deficiency should be investigated. Particularly, in the case of uncommon infections such as aspergillosis in early life, CGD should be considered. We describe here a case of CGD that presented with invasive pulmonary aspergillosis in a 2-month-old girl. We confirmed pulmonary aspergillosis noninvasively through a positive result from the culture of bronchial alveolar lavage fluid, positive serological test for Aspergillus antigen and radiology results. She was successfully treated with Amphotericin B and recombinant IFN-γ initially. Six weeks later after discharge, she was readmitted for pneumonia. Since there were infiltrates on the right lower lung, which were considered as residual lesions, voriconazole therapy was initiated. She showed a favorable response to the treatment and follow-up CT showed regression of the pulmonary infiltrates.

  3. The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

    PubMed Central

    Gahl, William A.; Mulvihill, John J.; Toro, Camilo; Markello, Thomas C.; Wise, Anastasia L.; Ramoni, Rachel B.; Adams, David R.; Tifft, Cynthia J.

    2017-01-01

    Introduction The inability of some seriously and chronically ill individuals to receive a definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed Diseases Program (UDP) was established to provide answers to patients with mysterious conditions that long eluded diagnosis and to advance medical knowledge. Patients admitted to the NIH UDP undergo a five-day hospitalization, facilitating highly collaborative clinical evaluations and a detailed, standardized documentation of the individual’s phenotype. Bedside and bench investigations are tightly coupled. Genetic studies include commercially available testing, single nucleotide polymorphism microarray analysis, and family exomic sequencing studies. Selected gene variants are evaluated by collaborators using informatics, in vitro cell studies, and functional assays in model systems (fly, zebrafish, worm, or mouse). Insights from the UDP In seven years, the UDP received 2954 complete applications and evaluated 863 individuals. Nine vignettes (two unpublished) illustrate the relevance of an undiagnosed diseases program to complex and common disorders, the coincidence of multiple rare single gene disorders in individual patients, newly recognized mechanisms of disease, and the application of precision medicine to patient care. Conclusions The UDP provides examples of the benefits expected to accrue with the recent launch of a national Undiagnosed Diseases Network (UDN). The UDN should accelerate rare disease diagnosis and new disease discovery, enhance the likelihood of diagnosing known diseases in patients with uncommon phenotypes, improve management strategies, and advance medical research. PMID:26846157

  4. Riga-Fede disease: a histological study and case report.

    PubMed

    Taghi, Azizi; Motamedi, Mohammad Hosein Kalantar

    2009-01-01

    Acute traumatic ulcerations and granulomas of the oral mucosa may result from physical damage via sharp foodstuffs, accidental biting, or talking. Most ulcerations heal within days. Others become chronic, reactive, and exophytic. A histopathologically unique type of chronic traumatic ulceration is the traumatic ulcerative granuloma with stromal eosinophilia (TUGSE). TUGSE exhibits a deep "pseudoinvasive" inflammatory reaction. This lesion may occur under the tongue in infants as a result of chronic mucosal trauma caused by mandibular anterior primary teeth during nursing and is termed Riga-Fede disease (RFD). The clinical presentation many resemble squamous cell carcinoma causing concern. RFD, although not uncommon, is not frequently reported. Thus, dental practitioners are unfamiliar with such lesions. We present a large Riga-Fede lesion in an infant along with the clinical management.

  5. Spectrum of Imaging Findings in Paget's Disease of the Breast-A Pictorial Review.

    PubMed

    Sripathi, Smiti; Ayachit, Anurag; Kadavigere, Rajagopal; Kumar, Sandeep; Eleti, Asha; Sraj, Aron

    2015-08-01

    We aimed to demonstrate imaging features of Paget's disease of breast, which is an extremely uncommon malignancy that presents with changes in the nipple-areolar region that may or may not be associated with an underlying in situ component or invasive cancer. Mammography is the initial investigation of choice, having a high sensitivity especially in cases where a palpable mass is present. The addition of ultrasound improves the accuracy of mammography. When both mammography and ultrasound are negative, MRI may detect an underlying mass or ductal carcinoma in situ (DCIS). The surgical management of Paget's disease includes mastectomy with or without axillary dissection, though breast conservation surgery in the form of wide local excision can also be done in a selected group of patients. Management should be based on both clinical and imaging findings, including mammography and ultrasound, with MRI playing a crucial role in defining the extent of involvement. Teaching Points • To differentiate Paget's disease from other chronic skin conditions. • Mammographic and ultrasound findings of histopathologically established Paget's disease. • When ultrasound and mammogram are negative, MRI may detect underlying malignancy.

  6. Thoracic osteomyelitis and epidural abscess formation due to cat scratch disease: case report.

    PubMed

    Dornbos, David; Morin, Jocelyn; Watson, Joshua R; Pindrik, Jonathan

    2016-12-01

    Osteomyelitis of the spine with associated spinal epidural abscess represents an uncommon entity in the pediatric population, requiring prompt evaluation and diagnosis to prevent neurological compromise. Cat scratch disease, caused by the pathogen Bartonella henselae, encompasses a wide spectrum of clinical presentations; however, an association with osteomyelitis and epidural abscess has been reported in only 4 other instances in the literature. The authors report a rare case of multifocal thoracic osteomyelitis with an epidural abscess in a patient with a biopsy-proven pathogen of cat scratch disease. A 5-year-old girl, who initially presented with vague constitutional symptoms, was diagnosed with cat scratch disease following biopsy of an inguinal lymph node. Despite appropriate antibiotics, she presented several weeks later with recurrent symptoms and back pain. Magnetic resonance imaging revealed 2 foci of osteomyelitis at T-8 and T-11 with an associated anterior epidural abscess from T-9 to T-12. Percutaneous image-guided vertebral biopsy revealed B. henselae by polymerase chain reaction analysis, and she was treated conservatively with doxycycline and rifampin with favorable clinical outcome.

  7. Macrocytic anemia in Lesch-Nyhan disease and its variants.

    PubMed

    Cakmakli, Hasan F; Torres, Rosa J; Menendez, Araceli; Yalcin-Cakmakli, Gul; Porter, Christopher C; Puig, Juan Garcia; Jinnah, H A

    2018-06-06

    Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was  to describe macrocytic erythrocytes as another common aspect of the phenotype. The results of 257 complete blood counts from 65 patients over a 23-year period were collected from 2 reference centers where many patients are seen regularly. Macrocytic erythrocytes occurred in 81-92% of subjects with Lesch-Nyhan disease or its neurological variants. After excluding cases with iron deficiency because it might pseudonormalize erythrocyte volumes, macrocytosis occurred in 97% of subjects. Macrocytic erythrocytes were sometimes accompanied by mild anemia, and rarely by severe anemia. These results establish macrocytic erythrocytes as a very common aspect of the clinical phenotype of Lesch-Nyhan disease and its neurological variants. Macrocytosis is so characteristic that its absence should prompt suspicion of a secondary process, such as iron deficiency. Because macrocytosis is uncommon in unaffected children, it can also be used as a clue for early diagnosis in children with neurodevelopmental delay. Better recognition of this characteristic feature of the disorder will also help to prevent unnecessary diagnostic testing and unnecessary attempts to treat it with folate or B12 supplements.

  8. Autoimmune Thyroid Disease in Rheumatoid Arthritis: A Global Perspective

    PubMed Central

    Cárdenas Roldán, Jorge; Amaya-Amaya, Jenny; Castellanos-de la Hoz, Juan; Giraldo-Villamil, Juliana; Montoya-Ortiz, Gladys; Cruz-Tapias, Paola; Rojas-Villarraga, Adriana; Mantilla, Rubén D.; Anaya, Juan-Manuel

    2012-01-01

    Objective. To determine the prevalence and impact of autoimmune thyroid disease (AITD) in patients with rheumatoid arthritis (RA). Methods. Eight-hundred patients were included. The association between AITD and RA was analyzed was analyzed by bivariate and multivariate analysis. In addition, a literature review was done focusing on geographical variations. Results. In our cohort the prevalence of AITD was 9.8% while the presence of antibodies was 37.8% for antithyroperoxidase enzyme (TPOAb) and 20.8% for antithyroglobulin protein (TgAb). The presence of type 2 diabetes, thrombosis, abnormal body mass index, and a high educational level was positively associated with AITD. The literature review disclosed a geographical variation of AITD in RA ranging from 0.5% to 27%. Autoantibody prevalence ranges from 6% to 31% for TgAb, 5% to 37% for TPOAb, and from 11.4% to 32% for the presence of either of the two. Conclusion. AITD is not uncommon in RA and should be systematically assessed since it is a risk factor for developing diabetes and cardiovascular disease. These results may help to further study the common mechanisms of autoimmune diseases, to improve patients' outcome, and to define public health policies. An international consensus to accurately diagnose AITD is warranted. PMID:23209899

  9. Frequency of Celiac Disease in Patients With Increased Intestinal Gas (Flatulence).

    PubMed

    Masoodi, Mohsen; Mokhtare, Marjan; Agah, Shahram; Sina, Mohammad; Soltani-Kermanshahi, Mojtaba

    2015-10-26

    Excessive flatulence which impairs social performance in patients is one of the common reasons for referrals to gastroenterology clinics. Celiac Disease is a rare but important cause of increased intestinal gas (bloating) and if not diagnosed, patients face complications such as malabsorption, anemia, osteoporosis and even intestinal lymphoma. This study aimed to determine the frequency of Celiac Disease in patients with excessive flatulence.One hundred and fifty patients with a chief complaint of experiencing flatulence more than 15 times a day and lasting for three months were referred to the gastroenterology clinic of Rasoul-e-Akram Teaching Hospital. Serological tests for Celiac Disease, Anti TTG Ab (IgA-IgG) were requested and the patients with positive tests underwent upper GI endoscopy. Biopsies of the second part of the duodenum were then sent to the laboratory.From one hundred and thirty patients who completed the study, 92 (70.7%) were female. Mean age of the patients was 32 ± 13 years. Anti TTG Ab was found in 5 patients (3.85%). Only 2 patients (1.5%) had a documented positive pathology for Celiac Disease.According to the results of this study and other studies, we conclude that Celiac Disease is an uncommon etiology for excessive flatulence but it is of importance to investigate it in excessive flatulence patients.

  10. Frequency of Celiac Disease in Patients with Increased Intestinal Gas (Flatulence)

    PubMed Central

    Masoodi, Mohsen; Mokhtare, Marjan; Agah, Shahram; Sina, Mohammad; Soltani-Kermanshahi, Mojtaba

    2016-01-01

    Excessive flatulence which impairs social performance in patients is one of the common reasons for referrals to gastroenterology clinics. Celiac Disease is a rare but important cause of increased intestinal gas (bloating) and if not diagnosed, patients face complications such as malabsorption, anemia, osteoporosis and even intestinal lymphoma. This study aimed to determine the frequency of Celiac Disease in patients with excessive flatulence. One hundred and fifty patients with a chief complaint of experiencing flatulence more than 15 times a day and lasting for three months were referred to the gastroenterology clinic of Rasoul-e-Akram Teaching Hospital. Serological tests for Celiac Disease, Anti TTG Ab (IgA-IgG) were requested and the patients with positive tests underwent upper GI endoscopy. Biopsies of the second part of the duodenum were then sent to the laboratory. From one hundred and thirty patients who completed the study, 92 (70.7%) were female. Mean age of the patients was 32 ± 13 years. Anti TTG Ab was found in 5 patients (3.85%). Only 2 patients (1.5%) had a documented positive pathology for Celiac Disease. According to the results of this study and other studies, we conclude that Celiac Disease is an uncommon etiology for excessive flatulence but it is of importance to investigate it in excessive flatulence patients. PMID:26755470

  11. Calcium Apatite Deposition Disease: Diagnosis and Treatment

    PubMed Central

    2016-01-01

    Calcium apatite deposition disease (CADD) is a common entity characterized by deposition of calcium apatite crystals within and around connective tissues, usually in a periarticular location. CADD most frequently involves the rotator cuff. However, it can theoretically occur in almost any location in the musculoskeletal system, and many different locations of CADD have been described. When CADD presents in an unexpected location it can pose a diagnostic challenge, particularly when associated with pain or swelling, and can be confused with other pathologic processes, such as infection or malignancy. However, CADD has typical imaging characteristics that usually allows for a correct diagnosis to be made without additional imaging or laboratory workup, even when presenting in unusual locations. This is a review of the common and uncommon presentations of CADD in the appendicular and axial skeleton as well as an updated review of pathophysiology of CADD and current treatments. PMID:28042481

  12. Congenital Syphilis Presenting with Only Nephrotic Syndrome: Reemergence of a Forgotten Disease.

    PubMed

    Kim, Yun Hee; Song, Ji Ho; Kim, Chan Jong; Yang, Eun Mi

    2017-08-01

    Syphilis infection has re-emerged after years of declining incidence. The prevalence of congenital syphilis (CS) has increased in Korea and other countries during the last few decades. Untreated infants develop symptoms such as rhinorrhea, anemia, jaundice, cutaneous lesions, hepatosplenomegaly, and pseudoparalysis within weeks or months. Significant renal disease is uncommon in CS, and clinical renal involvement varies from mild transient proteinuria to frank nephrosis. We report a 2-month-old infant with CS who presented with only nephrotic syndrome (NS). The previously healthy infant presented with NS and showed no other syphilitic manifestations. Remission of the NS was achieved with adequate penicillin treatment. No recurrence of proteinuria was observed during the 1 year of follow-up. Although rare, this long forgotten disease continues to affect pregnant women, resulting in prenatal or postnatal mortality. We still consider the possibility of syphilitic nephropathy and therefore serologic testing for congenital NS. © 2017 The Korean Academy of Medical Sciences.

  13. Liver pathology of hepatitis C, beyond grading and staging of the disease

    PubMed Central

    Dhingra, Sadhna; Ward, Stephen C; Thung, Swan N

    2016-01-01

    Liver biopsy evaluation plays a critical role in management of patients with viral hepatitis C. In patients with acute viral hepatitis, a liver biopsy, though uncommonly performed, helps to rule out other non-viral causes of deranged liver function. In chronic viral hepatitis C, it is considered the gold standard in assessment of the degree of necroinflammation and the stage of fibrosis, to help guide treatment and determine prognosis. It also helps rule out any concomitant diseases such as steatohepatitis, hemochromatosis or others. In patients with chronic progressive liver disease with cirrhosis and dominant nodules, a targeted liver biopsy is helpful in differentiating a regenerative nodule from dysplastic nodule or hepatocellular carcinoma. In the setting of transplantation, the liver biopsy helps distinguish recurrent hepatitis C from acute rejection and also is invaluable in the diagnosis of fibrosing cholestatic hepatitis, a rare variant of recurrent hepatitis C. This comprehensive review discusses the entire spectrum of pathologic findings in the course of hepatitis C infection. PMID:26819505

  14. Emerging Vector-Borne Diseases.

    PubMed

    Huntington, Mark K; Allison, Jay; Nair, Dilip

    2016-10-01

    Several mosquito-borne viral infections have recently emerged in North America; West Nile virus is the most common in the United States. Although West Nile virus generally causes a self-limited, flulike febrile illness, a serious neuroinvasive form may occur. Dengue is the most common vector-borne viral disease worldwide, and it has been a significant public health threat in the United States since 2009. Known as breakbone fever for its severe myalgias and arthralgias, dengue may cause a hemorrhagic syndrome. Chikungunya also causes flulike febrile illness and disabling arthralgias. Although meningoencephalitis may occur with chikungunya, bleeding is uncommon. Symptoms of Zika virus infection are similar to those of dengue, but milder. Zika virus increases the risk of fetal brain abnormalities, including microcephaly, if a pregnant woman is infected. Zika virus is spread through Aedes albopictus mosquito bites, is transmitted sexually, and may rarely spread nonsexually from person to person. Diagnosis of these vectorborne infections is clinical and serologic, and treatment is supportive. Other, well-established vector-borne diseases are also important. Ehrlichiosis is a tick-borne bacterial disease that presents as a nonspecific syndrome of fever, headache, malaise, and myalgias. It is diagnosed via blood smear testing, with confirmatory serology. Ehrlichiosis is treated with doxycycline. Rickettsial infections are transmitted by fleas, mites, and ticks, and severity ranges from mild to life threatening. Rocky Mountain spotted fever, the most significant rickettsial infection, is primarily a clinical diagnosis that presents as fever, headache, myalgias, petechial rash, and tick exposure. Doxycycline is effective for rickettsial infections if administered promptly. Vector avoidance strategies are critical to the prevention of all of these infections.

  15. Management of a rare presentation of Vogt-Koyanagi-Harada disease in human immunodeficiency virus/acquired immunodeficiency disease syndrome patient.

    PubMed

    Priya, D; Sudharshan, S; Biswas, Jyotirmay

    2017-05-01

    Vogt-Koyanagi-Harada (VKH), a multisystem autoimmune bilateral panuveitis with systemic manifestations, is uncommon in immunocompromised patients such as human immunodeficiency virus (HIV)/acquired immunodeficiency disease syndrome (AIDS). We report a rare presentation of VKH in a 45-year-old HIV-positive female on highly active antiretroviral therapy (HAART) who presented with a history of recurrent panuveitis. A diagnosis of probable VKH was made based on ocular and systemic signs and symptoms. She was treated with topical and systemic steroids with close monitoring of CD4 counts and viral loads. After inflammation control, complicated cataract was managed surgically under perioperative steroid cover. VKH in HIV/AIDS has not been reported earlier. This case shows that significant inflammation can be seen even in HIV/AIDS patients on HAART with VKH in spite of moderate CD4 counts. Management is a challenge considering the systemic risks with long-term use of steroids.

  16. Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.

    PubMed

    Horn, Morten A; Erichsen, Martina M; Wolff, Anette S B; Månsson, Jan-Eric; Husebye, Eystein S; Tallaksen, Chantal M E; Skjeldal, Ola H

    2013-09-01

    X-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men. After surveying all known cases of X-linked adrenoleukodystrophy in Norway in a separate study, we aimed to look for any missed cases among the population of adult men with nonautoimmune Addison's disease. Among 153 adult men identified in a National Registry for Addison's Disease (75% of identified male cases of Addison's disease in Norway), those with negative indices for 21-hydroxylase autoantibodies were selected. Additionally, cases with low autoantibody indices (48-200) were selected. Sera from subjects included were analysed for levels of very long-chain fatty acids, which are diagnostic for X-linked adrenoleukodystrophy in men. Eighteen subjects had negative indices and 17 had low indices for 21-hydroxylase autoantibodies. None of those with low indices and only one of those with negative indices were found to have X-linked adrenoleukodystrophy; this subject had already been diagnosed because of the neurological symptoms. Cases of Addison's disease proved to be caused by X-linked adrenoleukodystrophy constitute 1·5% of all adult male cases in Norway; the proportion among nonautoimmune cases was 15%. We found X-linked adrenoleukodystrophy to be an uncommon cause of Addison's disease in adult men. However, this aetiological diagnosis has far-reaching consequences both for the patient and for his extended family. We therefore recommend that all adult men with nonautoimmune Addison's disease be analysed for levels of very long-chain fatty acids. © 2013 John Wiley & Sons Ltd.

  17. Infantile botulism: clinical and laboratory observations of a rare neuroparalytic disease.

    PubMed

    Urdaneta-Carruyo, E; Suranyi, A; Milano, M

    2000-04-01

    A 3-month-old male infant was admitted to the University Hospital of Los Andes with a history of constipation, weak crying, poor feeding, flaccidity and later bilateral ptosis and hyporeflexia. The admission diagnosis was septicaemia until an electrophysiological study reported postetanic facilitation with 50 Hz/seg stimulations four days later. The Clostridium botulinum toxin type B was isolated from the infant's stool samples and the organism grew in anaerobic cultures. The patient recovered completely and was discharged 2 months later. Although infant botulism is an uncommon disease in our environment, this diagnosis must be suspected in all afebrile infants with constipation, affected cranial nerves and generalized hypotonia. The principal differential diagnoses are Landry-Guillain-Barré syndrome, poliomyelitis, myasthenia gravis and infant muscular atrophy.

  18. The clinical dilemma of "silent desensitization" in aspirin-exacerbated respiratory disease.

    PubMed

    White, Andrew A; Bosso, John V; Stevenson, Donald D

    2013-01-01

    Aspirin desensitization is a treatment option for patients with aspirin-exacerbated respiratory disease (AERD). Some patients with an excellent history of aspirin or nonsteroidal anti-inflammatory drug (NSAID) reactions have negative aspirin challenges/desensitization. This study discusses the clinical entity of silent desensitization in AERD and the dilemma that this presents to the practicing allergist/immunologist. We discuss a series of patients with a strong history of NSAID reactions who initially underwent a negative challenge/silent desensitization. These patients were subsequently proven to have AERD after a second positive aspirin challenge. Silent desensitization is an uncommon but important outcome to recognize in AERD. Clinicians performing aspirin desensitization should understand that this can occur and consider a second confirmatory aspirin challenge in some patients.

  19. Averting the Legacy of Kidney Disease-Focus on Childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-02-08

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults if they receive kidney replacement therapy, including dialysis and transplantation, while only a minority of children may require this ultimate intervention.  Since there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. "For in every adult there dwells the child that was, and in every child there lies the adult that will be."-John Connolly, The Book of Lost Things.

  20. Cognitive decline in Parkinson disease

    PubMed Central

    Aarsland, Dag; Creese, Byron; Politis, Marios; Chaudhuri, K. Ray; ffytche, Dominic H.; Weintraub, Daniel; Ballard, Clive

    2017-01-01

    Dementia is a frequent problem encountered in advanced stages of Parkinson disease (PD). In recent years, research has focused on the pre-dementia stages of cognitive impairment in PD, including mild cognitive impairment (MCI). Several longitudinal studies have shown that MCI is a harbinger of dementia in PD, although the course is variable, and stabilization of cognition — or even reversal to normal cognition — is not uncommon. In addition to limbic and cortical spread of Lewy pathology, several other mechanisms are likely to contribute to cognitive decline in PD, and a variety of biomarker studies, some using novel structural and functional imaging techniques, have documented in vivo brain changes associated with cognitive impairment. The evidence consistently suggests that low cerebrospinal fluid levels of amyloid-β42, a marker of comorbid Alzheimer disease (AD), predict future cognitive decline and dementia in PD. Emerging genetic evidence indicates that in addition to the APOE*ε4 allele (an established risk factor for AD), GBA mutations and SCNA mutations and triplications are associated with cognitive decline in PD, whereas the findings are mixed for MAPT polymorphisms. Cognitive enhancing medications have some effect in PD dementia, but no convincing evidence that progression from MCI to dementia can be delayed or prevented is available, although cognitive training has shown promising results. PMID:28257128

  1. Retinal diseases in a tertiary hospital: the need for establishment of a vitreo-retinal care unit.

    PubMed

    Onakpoya, Oluwatoyin Helen; Olateju, Samuel Oluremi; Ajayi, Iyiade Adeseye

    2008-11-01

    To evaluate the need for vitreo-retinal care for suburban and rural communities of southwestern Nigeria. A retrospective review of patients with posterior segment diseases attending the general ophthalmology clinics of Obafemi Awolowo University Teaching Hospital's complex, Ile Ife, southwestern Nigeria, between January 2001 and December 2006 was conducted. The age, sex and diagnosis were analyzed and needs assessment conducted. Three-thousand, one-hundred-thirty-one new cases were reviewed of which 407(13%) patients presented with retinal diseases. Their mean age was 46.3 +/- 21.4 years, mode 60 years and male:female ratio 1.3:1 (P=0.05). Macula diseases (35.6%), hypertensive retinopathy (12%), retinochoroiditis (11.5%) and diabetic retinopathy (9.6%) were the predominant retinal diseases. Age-related macular degeneration was the most frequent of the macular diseases (38.6%), with a female preponderance (p=0.06). It is estimated that fundus photography +/- fluorescein will be beneficial in 89.4%, laser photocoagulation in 36.4% and vitreo-retinal surgical procedure in 16.4%. Posterior segment diseases are not uncommon in rural communities of southwestern Nigeria. Facilities for fundus angiography, laser photocoagulation and a vitreoretinal surgical unit in trained hands will improve the capacity for specific diagnosis and appropriate management of vitreo-retinal diseases in these communities.

  2. Reversible Pisa Syndrome Induced by Rivastigmine in a Patient With Early-Onset Alzheimer Disease.

    PubMed

    Hsu, Chih-Wei; Lee, Yu; Lee, Chun-Yi; Lin, Pao-Yen

    Pisa syndrome (PS) is a state of dystonic muscle contraction with a marked truncal deviation to one side. It is an uncommon adverse effect of antipsychotic drugs, but is rarely reported in patients receiving acetylcholinesterase inhibitors, especially rivastigmine. We present a 57-year-old female patient with Alzheimer disease who began to develop symptoms of dementia at the age of 51 years. She was observed to have symptoms of PS after continuous use of rivastigmine (9 mg/d) for nearly 2 years. The PS symptoms improved after the dose of rivastigmine was reduced but recurred when the dose was added back to 9 mg/d. Finally, after we decreased the dose to 4.5 mg/d, her PS symptoms were remitted. This report reminds us that clinicians need to be cautious about the risk of PS when prescribing rivastigmine in a patient with early-onset Alzheimer disease.

  3. Impacts of national surveillance for uncommon conditions in childhood.

    PubMed

    Zurynski, Yvonne A; Peadon, Elizabeth; Bower, Carol; Elliott, Elizabeth J

    2007-11-01

    The Australian Paediatric Surveillance Unit (APSU) facilitates the conduct of national collaborative research that is consistent with national health priorities, has potential to impact on public health, and addresses gaps in knowledge. Since 1993 paediatricians and other child health specialists have contributed monthly data on rare childhood conditions to the APSU. Over 40 conditions, including infectious diseases, injuries, vaccine-preventable diseases and genetic disorders have been studied. Information on epidemiology, frequency, diagnosis, management and short-term outcomes of these conditions is collected and provides evidence to support changes to clinical practice, prevention policy and allocation of health resources. In this review we give examples of the value of information gathered through the APSU surveillance system in the last 14 years.

  4. Shared and organism-specific host responses to childhood diarrheal diseases revealed by whole blood transcript profiling.

    PubMed

    DeBerg, Hannah A; Zaidi, Mussaret B; Altman, Matthew C; Khaenam, Prasong; Gersuk, Vivian H; Campos, Freddy D; Perez-Martinez, Iza; Meza-Segura, Mario; Chaussabel, Damien; Banchereau, Jacques; Estrada-Garcia, Teresa; Linsley, Peter S

    2018-01-01

    Globally, diarrheal diseases are a leading cause of death in children under five and disproportionately affect children in developing countries. Children who contract diarrheal diseases are rarely screened to identify the etiologic agent due to time and cost considerations associated with pathogen-specific screening and hence pathogen-directed therapy is uncommon. The development of biomarkers to rapidly identify underlying pathogens could improve treatment options and clinical outcomes in childhood diarrheal diseases. Here, we perform RNA sequencing on blood samples collected from children evaluated in an emergency room setting with diarrheal disease where the pathogen(s) present are known. We determine host response gene signatures specific to Salmonella, Shigella and rotavirus, but not E. coli, infections that distinguish them from each other and from healthy controls. Specifically, we observed differential expression of genes related to chemokine receptors or inflammasome signaling in Shigella cases, such as CCR3, CXCR8, and NLRC4, and interferon response genes, such as IFI44 and OASL, in rotavirus cases. Our findings add insight into the host peripheral immune response to these pathogens, and suggest strategies and limitations for the use host response transcript signatures for diagnosing the etiologic agent of childhood diarrheal diseases.

  5. [Atypical subacute thyroiditis in combination with Grave's disease:Diagnostic difficulties in a case report].

    PubMed

    Koutouridou, Emmanouela; Planck, Tereza; Uddman, Erik; Lantz, Mikael

    2018-04-13

    Subacute thyroiditis is a common inflammatory disorder of the thyroid gland, possibly of viral etiology, that typically presents with neck pain, fever and tenderness on palpation of the thyroid gland. Graves' disease is an autoimmune thyroid disorder caused by stimulation of the thyroid gland by thyrotropin receptor antibodies (TRAb). The development of Graves´ disease and subacute thyroiditis simultaneously is an uncommon condition and only a few cases have been reported. In this article we present a case of a 46-year old woman diagnosed with Graves´ disease who was started on thiamazole and weeks later developed high fever. Several differential diagnoses were considered such as infection, lymphoma and vasculitis due to thiamazole. Finally, the fine needle aspiration of the thyroid gland displayed histopathological features of subacute thyroiditis. Remarkably, our patient did not have neck pain or tenderness on palpation of the thyroid gland and overall the clinical presentation of subacute thyroiditis was atypical. Thus, subacute thyroiditis may be considered as a potential cause of fever of unknown origin.

  6. Mutation analysis of 28 gaucher disease patients: The Australasian experience

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Lewis, B.D.; Nelson, P.V.; Robertson, E.F.

    1994-01-15

    Gaucher disease is the most common lysomal storage disease. It is an autosomal recessive disorder that results from a deficiency of {beta}-glucocerrebrosidase. Three clinical phenotypes have been described: non-neuronopathic, acute neuronopathic, and subacuteneuronopathic. Genomic DNA from 28 Australasian patients of diverse ethnic origin with Gaucher disease was screened for 3 common mutations (1226G, 1448C and 84GG) using the amplification refractory mutation system (ARMS), and one uncommon mutation (1504T) by restriction enzyme digestion. Thirty-eight of the 56 independent alleles in these patients were characterized, with 1448C present in 42% and 1226G in 28% of the alleles. The 1226G mutation was associatedmore » only with the nonneuronopathic phenotype and 7 of the 15 patients who carried the 1448C mutation developed neuronopathic disease. Three infants who died in the neonatal period following a rapidly progressive neurodegenerative course carried no identifiable mutations. The 84GG mutation was carried by 2 Jewish patients and 1504T was present in one patient. It is now possible to rapidly identify the common Gaucher mutations using ARMS and restriction enzyme digestion, and our findings confirm the heterogeneity of mutations in Gaucher disease. It is also possible to predict in part the phenotypic outcome when screening patients for these mutations. The authors consider mutation analysis to be of most use in prenatal diagnosis and for carrier detection within affected families. 27 refs., 2 figs., 2 tabs.« less

  7. Foamy Monocytes Are Enriched in cis-7-Hexadecenoic Fatty Acid (16:1n-9), a Possible Biomarker for Early Detection of Cardiovascular Disease.

    PubMed

    Guijas, Carlos; Meana, Clara; Astudillo, Alma M; Balboa, María A; Balsinde, Jesús

    2016-06-23

    Human monocytes respond to arachidonic acid, a secretory product of endothelial cells, by activating the de novo pathway of fatty acid biosynthesis, resulting in the acquisition of a foamy phenotype due to accumulation of cytoplasmic lipid droplets. Recruitment of foamy monocytes to endothelium is a key step in the formation of atherosclerotic plaques. Here we describe that lipid droplets of foamy monocytes are enriched in a rather uncommon fatty acid, cis-7-hexadecenoic acid (16:1n-9), a positional isomer of palmitoleic acid. 16:1n-9 was found to possess an anti-inflammatory activity both in vitro and in vivo that is comparable with that of omega-3 fatty acids and clearly distinguishable from the effects of palmitoleic acid. Selective accumulation in neutral lipids of phagocytic cells of an uncommon fatty acid reveals an early phenotypic change that may provide a biomarker of proatherogenicity, and a potential target for intervention in the early stages of cardiovascular disease. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Emerging and reemerging epidemic-prone diseases among settling nomadic pastoralists in Uganda.

    PubMed

    Cummings, Matthew J; Wamala, Joseph F; Komakech, Innocent; Malimbo, Mugagga; Lukwago, Luswa

    2014-09-01

    Epidemic-prone diseases have traditionally been uncommon among nomadic pastoralists as mobility allows already dispersed populations to migrate away from epidemic threats. In the Karamoja region of Uganda, nomadic pastoralists are transitioning to an increasingly settled lifestyle due to cattle raiding and associated civil insecurity. In attempts to reduce conflict in the region, the Ugandan government has instituted disarmament campaigns and encouraged sedentism in place of mobility. In Karamoja, this transition to sedentism has contributed to the emergence and reemergence of epidemic-prone diseases such as cholera, hepatitis E, yellow fever, and meningococcal meningitis. The incidence of these diseases remains difficult to measure and several challenges exist to their control. Challenges to communicable disease surveillance and control among settling nomadic pastoralists are related to nomadic mobility, remote geography, vaccination and immunity, and poor sanitation and safe water access. In addition to improving gaps in infrastructure, attracting well-trained government health workers to Karamoja and similar areas with longstanding human resource limitations is critical to address the challenges to epidemic-prone disease surveillance and control among settling nomadic pastoralists. In conjunction with government health workers, community health teams provide a sustainable method by which public health programs can be improved in the austere environments inhabited by mobile and settling pastoralists. Copyright © 2014 Elsevier B.V. All rights reserved.

  9. Enterovesical fistulas complicating Crohn's disease: clinicopathological features and management.

    PubMed

    Yamamoto, T; Keighley, M R

    2000-08-01

    Enterovesical fistula is a relatively rare condition in Crohn's disease. This study was undertaken to examine clinicopathological features and management of enterovesical fistula complicating Crohn's disease. Thirty patients with enterovesical fistula complicating Crohn's disease, treated between 1970 and 1997, were reviewed. Urological symptoms were present in 22 patients; pneumaturia in 18, urinary tract infection in 7, and haematuria in 2. In 5 patients clinical symptoms were successfully managed by conservative treatment, and they required no surgical treatment for enterovesical fistula. Twenty-five patients required surgery. All the patients were treated by resection of diseased bowel and pinching off the dome of the bladder. No patients required resection of the bladder. The Foley catheter was left in situ for an average of 2 weeks after operation. Three patients developed early postoperative complications; two bowel anastomotic leaks, and one intra-abdominal abscess. All these complications were associated with sepsis and multiple fistulas at the time of laparotomy. After a median follow-up of 13 years, 3 patients having postoperative sepsis (anastomotic leak or abscess) developed a recurrent fistula from the ileocolonic anastomosis to the bladder, which required further surgery. In the other 22 patients without postoperative complications there has been no fistula recurrence. In conclusion, the majority of patients with enterovesical fistula required surgical treatment: resection of the diseased bowel and oversewing the defect in the bladder. The fistula recurrence was uncommon, but the presence of sepsis and multiple fistulas at the time of laparotomy increased the incidence of postoperative complications and fistula recurrence.

  10. A 1:1 pharmaceutical cocrystal of myricetin in combination with uncommon piracetam conformer: X-ray single crystal analysis and mechanochemical synthesis

    NASA Astrophysics Data System (ADS)

    Sowa, Michał; Ślepokura, Katarzyna; Matczak-Jon, Ewa

    2014-01-01

    Combination of two Active Pharmaceutical Ingredients, myricetin and piracetam, yields a 1:1 cocrystal characterized by X-ray single-crystal and powder diffraction, Raman spectroscopy, 1H NMR, thermal analysis (DSC and TG-DTA) methods. Constituents of the cocrystalline phase were also investigated in terms of Hirshfeld surfaces. Compounds in their neutral forms cocrystallize in the Pna21 space group of orthorhombic system. Notably, piracetam adopts an uncommon conformation, not encountered in its cocrystals previously described. In the crystal lattice, a three-dimensional hydrogen-bonded network is observed, including formation of a 2D molecular scaffolding motif. A scale-up procedure is readily available with use of solvent-drop grinding method, in which application of a variety of common solvents leads to formation of the cocrystal, as confirmed by XRPD and Raman spectroscopy.

  11. Paget's disease in patients of Asian descent in New Zealand.

    PubMed

    Sankaran, Shyam; Naot, Dorit; Grey, Andrew; Cundy, Tim

    2012-01-01

    Paget's disease is considered to be uncommon in Asian people, but we have noted a recent increase in the number of Asian patients referred to our clinic, on a background of an apparently decreasing prevalence in the population of European descent. In this article, we report clinical and epidemiological features of patients of Asian descent with Paget's disease, referred between 1973 and 2010 to the Auckland Paget's disease clinic. No Asian patients were referred before 1993, but 14 have presented between 1993 and 2010, with a median of 8 years between arrival into New Zealand and time of diagnosis. The patients were predominantly of south Asian origin. None of the 8 patients tested carried a mutation in exon 8 of the sequestosome 1 (SQSTM1) gene. The number of new Paget's disease referrals expressed as a proportion of the potentially at-risk Asian population in the Auckland region (derived from census data) was 1/10(4) in 2006 to 2011. Amongst Europeans, the corresponding value decreased from 10/10(4) in 1986 to 1991 to 2/10(4) in 2006 to 2010. The increased number of people of Asian descent diagnosed with Paget's disease in the Auckland region has paralleled the increasing size of the local Asian population. The continuing decline of Paget's disease in the European population, in conjunction with the emergence of the disease in the Asian population, supports the view that an environmental determinant to the disease exists and that Asians are not genetically protected. It also implies that the apparent reduction in Paget's disease prevalence in western cities is unlikely to be explicable by the rising Asian population of these cities. Copyright © 2012 American Society for Bone and Mineral Research.

  12. World Kidney Day 2016: averting the legacy of kidney disease-focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-04-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. Sociedad Argentina de Pediatría.

  13. World Kidney Day 2016: Averting the legacy of kidney disease-focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-03-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early, or who are small-for-date newborns, have a relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy-makers, and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  14. Acute rhabdomyolysis and delayed pericardial effusion in an Italian patient with Ebola virus disease: a case report.

    PubMed

    Nicastri, Emanuele; Brucato, Antonio; Petrosillo, Nicola; Biava, Gianluigi; Uyeki, Timothy M; Ippolito, Giuseppe

    2017-08-30

    During the 2013-2016 West Africa Ebola virus disease (EVD) epidemic, some EVD patients, mostly health care workers, were evacuated to Europe and the USA. In May 2015, a 37-year old male nurse contracted Ebola virus disease in Sierra Leone. After Ebola virus detection in plasma, he was medically-evacuated to Italy. At admission, rhabdomyolysis was clinically and laboratory-diagnosed and was treated with aggressive hydration, oral favipiravir and intravenous investigational monoclonal antibodies against Ebola virus. The recovery clinical phase was complicated by a febrile thrombocytopenic syndrome with pericardial effusion treated with corticosteroids for 10 days and indomethacin for 2 months. No evidence of recurrence is reported. A febrile thrombocytopenic syndrome with pericardial effusion during the recovery phase of EVD appears to be uncommon. Clinical improvement with corticosteroid treatment suggests that an immune-mediated mechanism contributed to the pericardial effusion.

  15. Outbreak of uncommon O4 non-agglutinating Salmonella typhimurium linked to minced pork, Saxony-Anhalt, Germany, January to April 2013.

    PubMed

    Alt, Katja; Simon, Sandra; Helmeke, Carina; Kohlstock, Claudia; Prager, Rita; Tietze, Erhard; Rabsch, Wolfgang; Karagiannis, Ioannis; Werber, Dirk; Frank, Christina; Fruth, Angelika

    2015-01-01

    In January 2013, the National Reference Centre for Salmonella (NRC) detected a salmonellosis cluster in Saxony-Anhalt, Germany, caused by uncommon O4 non-agglutinating, monophasic Salmonella (S.) Typhimurium DT193. Circulating predominant monophasic S. Typhimurium DT193 clones typically display resistance phenotype ASSuT. We investigated common exposures to control the outbreak, and conducted microbiological investigations to assess the strains' phenotype. We conducted a case-control study defining cases as persons living or working in Saxony-Anhalt diagnosed with the O4 non-agglutinating strain between January and March 2013. We selected two controls contemporarily reported with norovirus infection, frequency-matched on residence and age group, per case. We interviewed regarding food consumption, especially pork and its place of purchase. We calculated odds ratios (ORs) with 95% confidence intervals (95% CI) using logistic regression. The NRC investigated human and food isolates by PCR, SDS-PAGE, MLST, PFGE, MLVA and susceptibility testing. Altogether, 68 O4 non-agglutinating human isolates were confirmed between January and April 2013. Of those, 61 were assigned to the outbreak (median age 57 years, 44% female); 83% cases ≥ 60 years were hospitalized. Eating raw minced pork from butcheries within 3 days was associated with disease (31 cases, 28 controls; OR adjusted for sex: 3.6; 95% CI: 1.0-13). Phage type DT193 and MLST ST34 were assigned, and isolates' lipopolysaccharide (LPS) matched control strains. Isolates linked to Saxony-Anhalt exhibited PFGE type 5. ASSuT- and ACSSuT phenotype proportions were 34 and 39% respectively; 54% were resistant to chloramphenicol. Three pork isolates matched the outbreak strain. Raw minced pork was the most likely infection vehicle in this first reported outbreak caused by O4 non-agglutinating, mostly chloramphenicol-resistant S. Typhimurium DT193. High hospitalization proportions demand awareness on the risk of consumption

  16. Graves' disease in a 3 year-old patient with agranulocytosis due to anti-thyroid drugs: Radioiodine ablation therapy as an effective alternative.

    PubMed

    Espinosa-Muñoz, E; Ramírez-Ocaña, D; Martín-García, A M; Ruiz-García, F J; Puentes-Zarzuela, C

    The case is presented of a 3 year-old girl with mitochondrial disease (subacute necrotizing encephalomyelopathy of Leigh syndrome), v-stage chronic kidney disease of a diffuse mesangial sclerosis, as well as developmental disorders, and diagnosed with hyperthyroidism Graves-Basedow disease. Six weeks after starting the treatment with neo-carbimazole, the patient reported a serious case of agranulocytosis. This led to stopping the anti-thyroid drugs, and was treated successfully with 131 I ablation therapy. The relevance of the article is that Graves' disease is uncommon in the paediatric age range (especially in children younger than 6 years old), and developing complications due to a possible late diagnosis. Agranulocytosis as a potentially serious adverse effect following the use of anti-thyroid drugs, and the few reported cases of ablation therapy with 131 I at this age, makes this case unique. Copyright © 2017 Elsevier España, S.L.U. y SEMNIM. All rights reserved.

  17. Does biodiversity protect humans against infectious disease? Reply

    USGS Publications Warehouse

    Wood, Chelsea L.; Lafferty, Kevin D.; DeLeo, Giulio; Young, Hillary S.; Hudson, Peter J.; Kuris, Armand M.

    2016-01-01

    The dilution effect is the sort of idea that everyone wants to be true. If nature protects humans against infectious disease, imagine the implications: nature's value could be tallied in terms of human suffering avoided. This makes a potent argument for conservation, convincing even to those who would otherwise be disinclined to support conservation initiatives. The appeal of the dilution effect has been recognized by others: “the desire to make the case for conservation has led to broad claims regarding the benefits of nature conservation for human health” (Bauch et al. 2015). Randolph and Dobson (2012) were among the first to critique these claims, making the case that promotion of conservation to reduce Lyme disease risk, although well intentioned, was flawed. Along with Randolph and Dobson's critique, there have been several calls for a more nuanced scientific assessment of the relationship between biodiversity and disease transmission (Dunn 2010, Salkeld et al. 2013, Wood and Lafferty 2013, Young et al. 2013). In response, supporters of the dilution effect have instead increased the scope of their generalizations with review papers, press releases, and, like Levi et al. (2015), letters. These responses have been successful; it is not uncommon to read papers that repeat the assertion that biodiversity generally interferes with disease transmission and that conservation will therefore generally benefit human health. Here, we explain how Levi et al. (2015) and other, similar commentaries use selective interpretation and shifting definitions to argue for the generality of the dilution effect hypothesis.

  18. Interaction of Adverse Disease Related Pathways in Hypertrophic Cardiomyopathy.

    PubMed

    Rowin, Ethan J; Maron, Martin S; Chan, Raymond H; Hausvater, Anais; Wang, Wendy; Rastegar, Hassan; Maron, Barry J

    2017-12-15

    Hypertrophic cardiomyopathy (HC) has been characterized as a generally progressive genetic heart disease, creating an ominous perspective for patients and managing cardiologists. We explored the HC disease burden and interaction of adverse clinical pathways to clarify patient expectations over long time periods in the contemporary therapeutic era. We studied 1,000 consecutive HC patients (52 ± 17 years) at Tufts Medical Center, followed 9.3 ± 8 years from diagnosis, employing a novel disease pathway model: 46% experienced a benign course free of adverse pathways, but 42% of patients progressed along 1 major pathway, most commonly refractory heart failure to New York Heart Association class III or IV requiring surgical myectomy (or alcohol ablation) or heart transplant; repetitive or permanent atrial fibrillation; and least commonly arrhythmic sudden death events. Eleven percent experienced 2 of these therapeutic end points at different times in their clinical course, most frequently the combination of advanced heart failure and atrial fibrillation, whereas only 1% incurred all 3 pathways. Freedom of progression from 1 to 2 disease pathways, or from 2 to 3 was 80% and 93% at 5 years, respectively. Annual HC-related mortality did not differ according to the number of pathways: 1 (0.8%), 2 (0.8%), or 3 (2.4%) (p = 0.56), and 93% of patients were in New York Heart Association classes I or II at follow-up. In conclusion, it is uncommon for HC patients to experience multiple adverse (but treatable) disease pathways, underscoring the principle that HC is not a uniformly progressive disease. These observations provide a measure of clarity and/or reassurance to patients regarding the true long-term disease burden of HC. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Clinicopathological study of glomerular diseases associated with sarcoidosis: a multicenter study

    PubMed Central

    2013-01-01

    Background The association between sarcoidosis and glomerular diseases has not been extensively investigated in a large series and the potential features of this uncommon association remain to be determined. Methods We retrospectively identified 26 patients with biopsy-proven glomerular lesions that occurred in a sarcoidosis context. Potential remission of glomerular disease and sarcoidosis under specific treatment (steroid and/or immunosuppressive agents) was recorded for all patients. Demographic, clinical and biological characteristics were assessed at the time of kidney biopsy for each patient. Therapeutic data were analyzed for all patients. Results Glomerular disease occurred after the diagnosis of sarcoidosis in 11 of 26 cases (42%) (mean delay of 9.7 years). In six patients (23%), the glomerulopathy preceded the sarcoidosis diagnosis (mean delay 8 years). In the last nine patients (35%), both conditions occurred simultaneously. The most frequent glomerular disease occurring in sarcoidosis patients was membranous nephropathy in eleven cases. Other glomerular lesions included IgA nephropathy in six cases, focal segmental glomerulosclerosis in four patients, minimal change nephrotic syndrome for three patients and proliferative lupus nephritis in two patients. Granulomatous interstitial nephritis was associated with glomerular disease in six patients and was exclusively found in patients in whom the both disease occurred simultaneously. In nine patients with simultaneous glomerular and sarcoidosis diseases, we observed a strong dissociation between glomerular disease and sarcoidosis in terms of steroid responsiveness. At the end of the follow-up (mean of 8.4 years), six patients had reached end-stage renal disease and three patients had died. Conclusions A wide spectrum of glomerular lesions is associated with sarcoidosis. The close temporal relationship observed in some patients suggests common causative molecular mechanisms of glomerular injury but

  20. Zygomycetes in Human Disease

    PubMed Central

    Ribes, Julie A.; Vanover-Sams, Carolyn L.; Baker, Doris J.

    2000-01-01

    The Zygomycetes represent relatively uncommon isolates in the clinical laboratory, reflecting either environmental contaminants or, less commonly, a clinical disease called zygomycosis. There are two orders of Zygomycetes containing organisms that cause human disease, the Mucorales and the Entomophthorales. The majority of human illness is caused by the Mucorales. While disease is most commonly linked to Rhizopus spp., other organisms are also associated with human infection, including Mucor, Rhizomucor, Absidia, Apophysomyces, Saksenaea, Cunninghamella, Cokeromyces, and Syncephalastrum spp. Although Mortierella spp. do cause disease in animals, there is no longer sufficient evidence to suggest that they are true human pathogens. The spores from these molds are transmitted by inhalation, via a variety of percutaneous routes, or by ingestion of spores. Human zygomycosis caused by the Mucorales generally occurs in immunocompromised hosts as opportunistic infections. Host risk factors include diabetes mellitus, neutropenia, sustained immunosuppressive therapy, chronic prednisone use, iron chelation therapy, broad-spectrum antibiotic use, severe malnutrition, and primary breakdown in the integrity of the cutaneous barrier such as trauma, surgical wounds, needle sticks, or burns. Zygomycosis occurs only rarely in immunocompetent hosts. The disease manifestations reflect the mode of transmission, with rhinocerebral and pulmonary diseases being the most common manifestations. Cutaneous, gastrointestinal, and allergic diseases are also seen. The Mucorales are associated with angioinvasive disease, often leading to thrombosis, infarction of involved tissues, and tissue destruction mediated by a number of fungal proteases, lipases, and mycotoxins. If the diagnosis is not made early, dissemination often occurs. Therapy, if it is to be effective, must be started early and requires combinations of antifungal drugs, surgical intervention, and reversal of the underlying risk

  1. Unilateral acute maculopathy associated with adult onset hand, foot and mouth disease: case report and review of literature.

    PubMed

    Agrawal, Rupesh; Bhan, Kanchan; Balaggan, Kam; Lee, Richard Wj; Pavesio, Carlos E; Addison, Peter Kf

    2015-01-01

    Acute maculopathy is a rare condition of unknown aetiology and Coxsackie virus is known to be associated with this macular chorioretinitis. We report a case of acute unilateral maculopathy in a 35-year-old woman with concurrent hand foot and mouth disease. Furthermore, we display multimodal imaging (colour fundus photographs, autofluorescence, spectral domain ocular coherence tomography, fluorescein angiography and indocyanine green angiography) charting the course of the disease. The source of the virus was thought to be the patient's child. Empirical treatment with oral corticosteroids was commenced and the inflammation resolved, leaving a residual macular scar. We present this case combined with the review of literature of adult onset Coxsackie-virus-associated retinitis. This case reiterates the fact that Coxsackie virus is an uncommon but important consideration in the differential diagnosis of chorioretinitis and posterior uveitis with atypical retinopathy.

  2. Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis--A Comprehensive Review and Guide to Therapy. I. Systemic Disease.

    PubMed

    Kohanim, Sahar; Palioura, Sotiria; Saeed, Hajirah N; Akpek, Esen K; Amescua, Guillermo; Basu, Sayan; Blomquist, Preston H; Bouchard, Charles S; Dart, John K; Gai, Xiaowu; Gomes, José A P; Gregory, Darren G; Iyer, Geetha; Jacobs, Deborah S; Johnson, Anthony J; Kinoshita, Shigeru; Mantagos, Iason S; Mehta, Jodhbir S; Perez, Victor L; Pflugfelder, Stephen C; Sangwan, Virender S; Sippel, Kimberly C; Sotozono, Chie; Srinivasan, Bhaskar; Tan, Donald T H; Tandon, Radhika; Tseng, Scheffer C G; Ueta, Mayumi; Chodosh, James

    2016-01-01

    The intent of this review is to comprehensively appraise the state of the art with regard to Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), with particular attention to the ocular surface complications and their management. SJS and TEN represent two ends of a spectrum of immune-mediated, dermatobullous disease, characterized in the acute phase by a febrile illness followed by skin and mucous membrane necrosis and detachment. The widespread keratinocyte death seen in SJS/TEN is rapid and irreversible, and even with early and aggressive intervention, morbidity is severe and mortality not uncommon. We have divided this review into two parts. Part I summarizes the epidemiology and immunopathogenesis of SJS/TEN and discusses systemic therapy and its possible benefits. We hope this review will help the ophthalmologist better understand the mechanisms of disease in SJS/TEN and enhance their care of patients with this complex and often debilitating disease. Part II (April 2016 issue) will focus on ophthalmic manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Editorial: World Kidney Day 2016: Averting the Legacy of Kidney Disease--Focus on Childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for-date newborns have a relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults if they receive kidney replacement therapy including dialysis and transplantation, although only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers, and caregivers about the needs and possibilities surrounding kidney disease in childhood. Copyright © 2016. Published by Elsevier Inc.

  4. Combined Papillated Bowen Disease and Clear Cell Atypical Fibroxanthoma

    PubMed Central

    Suárez-Vilela, Dimas; Izquierdo-García, Francisco; Domínguez-Iglesias, Francisco; Méndez-Álvarez, Jose Ramón

    2010-01-01

    We describe a case of papillated Bowen disease (PBD), associated with a clear cell atypical fibroxanthoma (CCAFXA). The epidermal lesion showed a bowenoid papillomatous growth pattern with histologic features suggestive of infection by human papilloma virus (HPV). In the dermis a neoplasm made up by spindled or polygonal cells with wide clear cytoplasm and moderate nuclear pleomorphism was found. Immunohistochemical characteristics of these two lesions were clearly different. The atypical cells of the intraepidermal proliferation were positive for AE1-AE3 anticytokeratin antibody, EMA, p16, p53 and p63. The dermal tumor was positive for vimentin, CD10, CD68, CD99, alpha-1-antitrypsin and c-kit. Histological features and immunohistochemical profile of the dermal tumor corresponded to a CCAFXA, a very uncommon neoplasm of which only 10 cases have been reported. In situ hybridization for numerous types of HPVs was negative in both lesions. PMID:21103191

  5. Research priority setting in childhood chronic disease: a systematic review.

    PubMed

    Odgers, Harrison Lindsay; Tong, Allison; Lopez-Vargas, Pamela; Davidson, Andrew; Jaffe, Adam; McKenzie, Anne; Pinkerton, Ross; Wake, Melissa; Richmond, Peter; Crowe, Sally; Caldwell, Patrina Ha Yuen; Hill, Sophie; Couper, Jennifer; Haddad, Suzy; Kassai, Behrouz; Craig, Jonathan C

    2018-04-11

    To evaluate research priority setting approaches in childhood chronic diseases and to describe the priorities of stakeholders including patients, caregivers/families and health professionals. We conducted a systematic review of MEDLINE, Embase, PsycINFO and CINAHL from inception to 16 October 2016. Studies that elicited stakeholder priorities for paediatric chronic disease research were eligible for inclusion. Data on the prioritisation process were extracted using an appraisal checklist. Generated priorities were collated into common topic areas. We identified 83 studies (n=15 722). Twenty (24%) studies involved parents/caregivers and four (5%) children. The top three health areas were cancer (11%), neurology (8%) and endocrine/metabolism (8%). Priority topic areas were treatment (78%), disease trajectory (48%), quality of life/psychosocial impact (48%), disease onset/prevention (43%), knowledge/self-management (33%), prevalence (30%), diagnostic methods (28%), access to healthcare (25%) and transition to adulthood (12%). The methods included workshops, Delphi techniques, surveys and focus groups/interviews. Specific methods for collecting and prioritising research topics were described in only 60% of studies. Most reviewed studies were conducted in high-income nations. Research priority setting activities in paediatric chronic disease cover many discipline areas and have elicited a broad range of topics. However, child/caregiver involvement is uncommon, and the methods often lack clarity. A systematic and explicit process that involves patients and families in partnership may help to inform a more patient and family-relevant research agenda in paediatric chronic disease. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  6. Metachronous Paget's disease of the breast: case report.

    PubMed

    Gubitosi, A; Moccia, G; Malinconico, F A; Iside, G; Gilio, F; Cognetti, C; Foroni, F; Docimo, G; Ruggiero, R; Docimo, L; Agresti, M

    2009-04-01

    Paget breast disease is a kind of intraductal carcinoma that through an intracanalicular diffusion invades the basal epidermal layer, reaching the areola and nipple, producing a typical erythematous desquamative eczematous-like lesion. This neoplasia can remain undetected for a long time and inadequately treated as a dermatological affection. Synchronous or metachronous lesions are very uncommon. Surgical choice is conditioned by the presence of a tumor below the epidermal lesion, by its dimensions, and by the possible lymph node involvement. Surgical therapy can be radical or conservative. From our experience we think that lesion biopsy is always necessary to formulate a correct diagnosis and to schedule an appropriate therapeutic approach. In our case, a biopsy was performed first, then on the basis of the frozen section analysis a radical mastectomy with axillary third level lymph nodes dissection, because of the large dimensions of the lesion and the previous history of a methachronous lesion.

  7. Non-perforated peptic ulcer disease: multidetector CT findings, complications, and differential diagnosis.

    PubMed

    Tonolini, Massimo; Ierardi, Anna Maria; Bracchi, Elena; Magistrelli, Paolo; Vella, Adriana; Carrafiello, Gianpaolo

    2017-10-01

    Despite availability of effective therapies, peptic ulcer disease (PUD) remains a major global disease, resulting from a combination of persistent Helicobacter pylori infection and widespread use of nonsteroidal anti-inflammatory drugs. Albeit endoscopy definitely represents the mainstay diagnostic technique, patients presenting to emergency departments with unexplained abdominal pain generally undergo multidetector CT as an initial investigation. Although superficial ulcers generally remain inconspicuous, careful multiplanar CT interpretation may allow to detect deep ulcers, secondary mural and extraluminal signs of peptic gastroduodenitis, thereby allowing timely endoscopic verification and appropriate treatment. This pictorial essay aims to provide radiologists with an increased familiarity with CT diagnosis of non-perforated PUD, with emphasis on differential diagnosis. Following an overview of current disease epidemiology and complications, it explains the appropriate CT acquisition and interpretation techniques, and reviews with several examples the cross-sectional findings of uncomplicated PUD. Afterwards, the CT features of PUD complications such as ulcer haemorrhage, gastric outlet obstruction, biliary and pancreatic fistulisation are presented. • Gastric and duodenal peptic ulcers are increasingly caused by nonsteroidal anti-inflammatory drugs • Multiplanar CT interpretation allows detecting deep ulcers and secondary signs of gastroduodenitis • CT diagnosis of uncomplicated peptic disease relies on direct and indirect signs • Currently the commonest complication, haemorrhage may be treated with transarterial embolisation • Other uncommon complications include gastric outlet obstruction and biliopancreatic fistulisation.

  8. Phenolic profiling of Portuguese propolis by LC-MS spectrometry: uncommon propolis rich in flavonoid glycosides.

    PubMed

    Falcão, Soraia I; Vale, Nuno; Gomes, Paula; Domingues, Maria R M; Freire, Cristina; Cardoso, Susana M; Vilas-Boas, Miguel

    2013-01-01

    Propolis is a chemically complex resinous substance collected by honeybees (Apis mellifera) from tree buds, comprising plant exudates, secreted substances from bee metabolism, pollen and waxes. Its chemical composition depends strongly on the plant sources available around the beehive, which have a direct impact in the quality and bioactivity of the propolis. Being as Portugal is a country of botanical diversity, the phenolic characterisation of propolis from the different regions is a priority. Extensive characterisation of the phenolic composition of Portuguese propolis from different continental regions and islands. Forty propolis ethanolic extracts were analysed extensively by liquid chromatography with diode-array detection coupled to electrospray ionisation tandem mass spectrometry (LC-DAD-ESI-MS(n) ). Seventy-six polyphenols were detected in the samples and two groups of propolis were established: the common temperate propolis, which contained the typical poplar phenolic compounds such as flavonoids and their methylated/esterified forms, phenylpropanoid acids and their esters, and an uncommon propolis type with an unusual composition in quercetin and kaempferol glycosides - some of them never described in propolis. The method allowed the establishment of the phenolic profile of Portuguese propolis from different geographical locations, and the possibility to use some phenolic compounds, such as kaempferol-dimethylether, as geographical markers. Data suggest that other botanical species in addition to poplar trees can be important sources of resins for Portuguese propolis. Copyright © 2012 John Wiley & Sons, Ltd.

  9. Mycobacterium bovis and Other Uncommon Members of the Mycobacterium tuberculosis Complex.

    PubMed

    Esteban, Jaime; Muñoz-Egea, Maria-Carmen

    2016-12-01

    Since its discovery by Theobald Smith, Mycobacterium bovis has been a human pathogen closely related to animal disease. At present, M. bovis tuberculosis is still a problem of importance in many countries and is considered the main cause of zoonotic tuberculosis throughout the world. Recent development of molecular epidemiological tools has helped us to improve our knowledge about transmission patterns of this organism, which causes a disease indistinguishable from that caused by Mycobacterium tuberculosis. Diagnosis and treatment of this mycobacterium are similar to those for conventional tuberculosis, with the important exceptions of constitutive resistance to pyrazinamide and the fact that multidrug-resistant and extremely drug-resistant M. bovis strains have been described. Among other members of this complex, Mycobacterium africanum is the cause of many cases of tuberculosis in West Africa and can be found in other areas mainly in association with immigration. M. bovis BCG is the currently available vaccine for tuberculosis, but it can cause disease in some patients. Other members of the M. tuberculosis complex are mainly animal pathogens with only exceptional cases of human disease, and there are even some strains, like "Mycobacterium canettii," which is a rare human pathogen that could have an important role in the knowledge of the evolution of tuberculosis in the history.

  10. Chagas disease transmission by consumption of game meat: systematic review.

    PubMed

    Sangenis, Luiz Henrique Conde; Nielebock, Marco Antonio Prates; Santos, Ceumara da Silva; Silva, Mateus Curty Carriello da; Bento, Glauber Motta Ribeiro

    2016-01-01

    To evaluate the influence of game meat consumption in Chagas disease (CD) transmission, the conditions under which it occurs and the frequency of reports in the literature. Through systematic review, databases PubMed, LILACS, MEDLINE, and SciELO were consulted, and articles written in Portuguese, English, and Spanish were included, with no limitation over publication date. We used the following descriptors: oral, transmission, meat, wild animals, hunt, carnivory, and Chagas disease. Articles that mentioned consumption of animal meat as a form of human transmission of CD were included. We used epidemiological, clinical, and laboratory evidence criteria to confirm cases. Among the 298 articles identified, only six met the eligibility criteria. Only five episodes of oral transmission through wild animal meat or blood consumption were identified. However, in two of them, the possibility of vectorial transmission could not be ruled out. Most reports met the epidemiological, clinical, and laboratory evidence criteria established to support the transmission. Though CD transmission is uncommon, hunting and consumption of wild mammals that serve as Trypanosoma cruzi reservoirs should be discouraged in endemic countries in light of the risks inherent to these practices.

  11. Comprehensive update of dalbavancin activity when tested against uncommonly isolated streptococci, Corynebacterium spp., Listeria monocytogenes, and Micrococcus spp. (1357 strains).

    PubMed

    Jones, Ronald N; Stilwell, Matthew G

    2013-06-01

    Dalbavancin is an investigational lipoglycopeptide having an extended serum elimination half-life allowing once-weekly dosing. Data from testing 1357 strains of uncommonly isolated species expand the dalbavancin spectrum details as follows (MIC50/90): β-haemolytic streptococcal serogroups C, F, and G (≤0.03/≤0.03 μg/mL), 7 viridans group of streptococci (≤0.03/≤0.03-0.06 μg/mL), 5 Corynebacterium spp. (0.06/0.12 μg/mL), Listeria monocytogenes (0.06/0.12 μg/mL), and Micrococcus spp. (≤0.03/≤0.03 μg/mL). Among all reported isolates, 99.8% of tested strains were inhibited at dalbavancin MIC values at ≤0.12 μg/mL. Dalbavancin remains very potent against rarer Gram-positive pathogens, using in vitro test experience with organisms cultured through 2011. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Chronic Liver Diseases in Children: Clinical Profile and Histology.

    PubMed

    Dhole, Sachin Devidas; Kher, Archana S; Ghildiyal, Radha G; Tambse, Manjusha P

    2015-07-01

    The main aim of the study is to study the clinical profile of disorders of the liver and hepatobiliary system in paediatric patients and to correlate the histopathology findings of liver biopsy in chronic liver disease. Another aim being to assess the prognosis and to know the outcome and the effects of treatment in chronic liver diseases in paediatric age group. It was a prospective study, included the clinical profile of Chronic Liver Diseases (CLD) in children and the histopathological correlation. A total of 55 children were thoroughly investigated by doing relevant investigations and liver biopsy. A male predominance (60%) was noted with maximum incidence in the age group of 6-12 years. The incidence of CLD was 1.1% of total admissions. The most common presenting complaint was jaundice and abdominal distension. Hepatic encephalopathy was noted in 29% patients. Hepatomegaly was seen in 63% patients and spleenomegaly was seen in 60% patients. The incidence of cirrhosis on liver biopsy was 42% (23cases) in CLD patients. The most common diagnosis on histopathology was Wilson's disease (22%), followed by hepatitis and autoimmune hepatitis. The predominant spectrum of CLD was metabolic liver disease and also the predominant cause of death. As the incidence of CLD is quite low, a very high index of suspicion is required for its diagnosis. Some uncommon causes of CLD in children were seen in our study like neutral lipid storage disease, α1-Antitrypsin deficiency disease, lupus hepatitis, Alagille syndrome and Budd-Chiari syndrome. A patient of CLD with jaundice and hepatomegaly should be treated aggressively as those are the poor prognostic indicators of the disease. Hepatic encephalopathy and cirrhosis are also associated with poor outcome in patients with CLD. Liver biopsy histopathology by an expert and its correlation with laboratory investigations plays an important role in the diagnosis of CLD. The major cause of deaths in patients with CLD is due to end stage

  13. Neuro-Behcet disease presenting as a solitary cerebellar hemorrhagic lesion: a case report and review of the literature.

    PubMed

    Yeo, Minju; Lee, Hye-Lim; Cha, Minju; Kim, Ji Seon; Han, Ho-Seong; Lee, Sung-Hyun; Lee, Sang-Soo; Shin, Dong-Ick

    2016-12-20

    Behcet's disease is a heterogeneous, multisystem, inflammatory disorder of unknown etiology. The classic triad of oral and genital ulcerations in conjunction with uveitis was originally described by the Turkish dermatologist Hulusi Behcet in 1937, but associated symptoms of the cardiovascular, central nervous, pulmonary, and gastrointestinal systems were later identified. In fact, Behcet's disease with neurological involvement (neuro-Behcet's disease) is not uncommon. Patients with neuro-Behcet's disease typically exhibit a diverse array of symptoms, most commonly in the brainstem and diencephalic regions. Herein, we report an unusual case of neuro-Behcet's disease in a patient who presented with a solitary cerebellar hemorrhage. A 39-year-old Asian woman was admitted to our hospital with complaints of a sudden speech difficulty that had manifested the same morning, and dizziness and mild vomiting experienced over the previous 3 days. Magnetic resonance images revealed target-like hemorrhagic lesions in the right hemisphere of the cerebellum. Risk factors that may result in cerebellar hemorrhage, such as high blood pressure or bleeding diathesis, were ruled out, and subsequent brain angiograms were normal. These findings suggest that the patient's cerebellar hemorrhage could have been due to intracranial vasculitis in a rare, if not unique, complication of neuro-Behcet's disease.

  14. Aorto-iliac occlusive disease in the different population groups--clinical pattern, risk profile and results of reconstruction.

    PubMed

    Madiba, T E; Mars, M; Robbs, J V

    1999-12-01

    It has previously been accepted that atherosclerotic disease is uncommon among blacks worldwide; however, recent studies have increasingly reported atherosclerotic disease in this group. Prospective study of hospital patients with aorto-iliac occlusive disease presenting to the vascular service of the Durban metropolitan hospitals. The study was designed to assess clinical pattern, risk profile and results of reconstruction in these patients. This is a study of 688 patients with aorto-iliac occlusive disease managed over 9 years in Durban, with clinical pattern and risk factors compared in the different population groups. A subgroup of 492 patients underwent aortobifemoral bypass, providing material for comparison of the results of reconstruction in the different population groups. More black patients presented with gangrene and threatened limb, whereas whites tended to present early with claudication. All groups had hypertension and diabetes as risk factors. In addition, whites and Indians had ischaemic heart disease, which was not found among blacks. Mortality was 5% (blacks 1.8%, whites 8.5%, Indians 5%). Medium-term occlusion rates were 19% in blacks, 13% in Indians and 5% among whites. Five-year cumulative patency rates were 92% for whites, 77% for Indians and 74% for blacks. Whites do significantly better than blacks, who tend to present at an advanced stage of the disease. The presence of ischaemic heart disease among whites and Indians contributes to the higher mortality in these groups.

  15. Neuroprotective properties of curcumin in Alzheimer's disease--merits and limitations.

    PubMed

    Chin, Dawn; Huebbe, Patricia; Pallauf, Kathrin; Rimbach, Gerald

    2013-01-01

    As demographics in developed nations shift towards an aging population, neurodegenerative pathologies, especially dementias such as Alzheimer's disease, pose one of the largest challenges to the modern health care system. Since there is yet no cure for dementia, there is great pressure to discover potential therapeutics for these diseases. One popular candidate is curcumin or diferuloylmethane, a polyphenolic compound that is the main curcuminoid found in Curcuma longa (family Zingiberaceae). In recent years, curcumin has been reported to possess anti-amyloidogenic, antiinflammatory, anti-oxidative, and metal chelating properties that may result in potential neuroprotective effects. Particularly, the hydrophobicity of the curcumin molecule hints at the possibility of blood-brain barrier penetration and accumulation in the brain. However, curcumin exhibits extremely low bioavailability, mainly due to its poor aqueous solubility, poor stability in solution, and rapid intestinal first-pass and hepatic metabolism. Despite the many efforts that are currently being made to improve the bioavailability of curcumin, brain concentration of curcumin remains low. Furthermore, although many have reported that curcumin possesses a relatively low toxicity profile, curcumin applied at high doses, which is not uncommon practice in many in vivo and clinical studies, may present certain dangers that in our opinion have not been addressed sufficiently. Herein, the neuroprotective potential of curcumin, with emphasis on Alzheimer's disease, as well as its limitations will be discussed in detail.

  16. Is there a role for prophylactic colectomy in Lynch syndrome patients with inflammatory bowel disease?

    PubMed

    McNamara, Kate L; Aronson, Melyssa D; Cohen, Zane

    2016-01-01

    Lynch syndrome and chronic inflammatory bowel disease are two important risk factors for colorectal cancer. It is unclear whether Lynch syndrome patients with inflammatory bowel disease are at sufficiently increased risk for colorectal cancer to warrant prophylactic colectomy. This study aims to identify all cases of Lynch syndrome and concurrent inflammatory bowel disease in a large familial gastrointestinal cancer registry, define incidence of colorectal cancer, and characterize mismatch repair protein gene mutation status and inflammatory bowel disease-associated colorectal cancer risk factors. We retrospectively identified and collected clinical data for all cases with confirmed diagnoses of Lynch syndrome and inflammatory bowel disease in the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital in Toronto, Canada. Twelve cases of confirmed Lynch syndrome, and concurrent inflammatory bowel disease were identified. Four cases developed colorectal cancer. An additional five cases had colectomy; one was performed for severe colitis, and four were performed for low-grade dysplasia. None of these surgical specimens contained malignancy or high-grade dysplasia. The presentation of Lynch syndrome with inflammatory bowel disease is uncommon and not well described in the literature. This small but important series of twelve cases is the largest reported to date. In this series, patients with Lynch syndrome and concurrent inflammatory bowel disease do not appear to have sufficiently increased risk for colorectal cancer to recommend prophylactic surgery. Therefore, the decision to surgery should continue to be guided by surgical indications for each disease. Further evaluation of this important area will require multi-institutional input.

  17. Headache with autonomic features in a child: cluster headache or contact-point headache?

    PubMed

    Mishra, Devendra; Choudhury, Krishna Kant; Gupta, Alok

    2008-03-01

    Headache and facial pain due to diseases of the nose and sinuses are not uncommon in children. However, nasal contact-point associated with headache is relatively uncommon and has unclear etiological significance. We herein report a child having headache with autonomic features and contact-point in the nose, and discuss the difficulties in diagnostic categorization.

  18. Urinary Schistosomiasis in an Adolescent Refugee from Africa: An Uncommon Cause of Hematuria and an Emerging Infectious Disease in Europe.

    PubMed

    Poddighe, Dimitri; Castelli, Lucia; Pulcrano, Giovanna; Grosini, Alessia; Balzaretti, Michela; Spadaro, Salvatore; Bruni, Paola

    2016-10-01

    We report a case of urinary schistosomiasis in an adolescent refugee from Gambia (arrived to Italy illegally), who was brought to the Emergency Department of our hospital. The patient complained of gross hematuria and, in the absence of clinical evidence of bacterial urinary infection, was admitted to the pediatric ward, considering his provenience and social setting. An appropriate collection and microscopic analysis of urine samples led to the detection of bilharzia. Much attention should be paid to this emerging disease in Europe by physicians in order to recognize and treat it timely, which could prevent future and higher costs for public health systems and could reduce the potential risk of environmental spreading. In fact, there are some areas in Italy where the parasite can find its intermediate host to complete its lifecycle.

  19. [Neurological manifestations of Whipple disease].

    PubMed

    Vital Durand, D; Gérard, A; Rousset, H

    2002-10-01

    Whipple disease is an uncommon chronic bacterial infection due to Tropheryma whipplei. Clinical manifestations are protean (joint pain, fever, weight loss, abdominal pain, lymphadenopathies), and the diagnosis is often delayed. Although previously considered a late manifestation of Whipple disease, neurological involvement is now frequently the initial clinical manifestation and represents the greatest risk for long-term disability. All patients should be treated and monitored as if they had central nervous system disease even if they are asymptomatic. Neurological manifestations include dementia (56 percent), abnormalities of eye movements (33p. cent), involuntary movements (28 percent), seizures, hypothalamic dysfunction, myelopathy, ataxia and psychiatric manifestations. Uveitis, retinitis, optic neuritis and papilloedema may be found. 80 percent of the reported cases of neuro-Whipple had associated systemic symptoms or signs but many patients are presenting without concurrent intestinal manifestation. Thus, the disease may remain undiagnosed or misdiagnosed, as rheumatoid arthritis or sarcoidosis. Traditionally, the diagnostic procedure of choice is biopsy of the duodenal mucosa by demonstrating PAS-positive foamy macrophages. However, not all cases have small bowel infiltration and tissue obtained from sites clinically affected may be helpful. CT and MR images of the central nervous system are normal or not specific: atrophic changes, mass lesions, focal abnormalities and hydrocephalus. The application of a PCR assay against Tropheryma whipplei has transformed the diagnosis. Positive results have been obtained from several tissues and from CSF and PCR is more sensitive than other techniques. All patients must be treated with antibiotics which cross the blood-brain barrier. Most agree that initial treatment with a combination of parenteral penicillin and streptomycin for at least 14 days is appropriate, thereafter cotrimoxazole orally 3 times a day for at least

  20. Actinomyces in Chronic Granulomatous Disease: An Emerging and Unanticipated Pathogen

    PubMed Central

    Reichenbach, Janine; Lopatin, Uri; Mahlaoui, Nizar; Beovic, Bojana; Siler, Ulrich; Zbinden, Reinhard; Seger, Reinhard A.; Galmiche, Louise; Brousse, Nicole; Kayal, Samer; Güngör, Tayfun; Blanche, Stéphane; Holland, Steven M.

    2014-01-01

    Background Chronic granulomatous disease (CGD) is a rare inherited disease of the phagocyte NADPH oxidase system that causes defective production of toxic oxygen metabolites, impaired bacterial and fungal killing, and recurrent life-threatening infections, mostly by catalase-producing organisms. We report for the first time, to our knowledge, chronic infections with Actinomyces species in 10 patients with CGD. Actinomycosis is a chronic granulomatous condition that commonly manifests as cervicofacial, pulmonary, or abdominal disease, caused by slowly progressive infection with oral and gastrointestinal commensal Actinomyces species. Treatment of actinomycosis is usually simple in immunocompetent individuals, requiring long-term, high-dose intravenous penicillin, but is more complicated in those with CGD because of delayed diagnosis and an increased risk of chronic invasive or debilitating disease. Methods Actinomyces was identified by culture, staining, 16S ribosomal DNA polymerase chain reaction, and/ or a complement fixation test in 10 patients with CGD. Results All 10 patients presented with a history of fever and elevated inflammatory signs without evident focus. Diagnosis was delayed and clinical course severe and protracted despite high-dose intravenous antibiotic therapy and/or surgery. These results suggest an unrecognized and unanticipated susceptibility to weakly pathogenic Actinomyces species in patients with CGD because these are catalase-negative organisms previously thought to be nonpathogenic in CGD. Conclusions Actinomycosis should be vigorously sought and promptly treated in patients with CGD presenting with uncommon and prolonged clinical signs of infection. Actinomycosis is a catalase-negative infection important to consider in CGD. PMID:19874205

  1. Late-onset hepatic veno-occlusive disease post autologous peripheral stem cell transplantation successfully treated with oral defibrotide.

    PubMed

    Shah, Mithun S; Jeevangi, Nandish Kumar S; Joshi, Amit; Khattry, Navin

    2009-01-01

    Hepatic veno-occlusive disease (VOD) remains one of the commonest and most serious complications after myeloablative hematopoietic stem cell transplantation (HSCT). Clinical diagnosis of hepatic VOD is based on the finding of the triad of painful hepatomegaly, hyperbilirubinemia, and unexplained fluid retention occurring within 21 days of the transplant. However, the uncommon clinical entity of late-onset VOD can occur even beyond 20 days and should be considered in the differential diagnosis of any liver disease of more than 3 weeks' duration. While mild cases usually resolve spontaneously, severe VOD is associated with a grim prognosis. Defibrotide, a polydisperse mixture of single-stranded oligonucleotide with antithrombotic and fibrinolytic effects on microvascular endothelium, has emerged as an effective and safe therapy for patients with severe VOD. We describe a patient who presented 55 days post transplant with clinical features suggestive of VOD. Upon treatment with oral defibrotide, he showed complete resolution of the VOD.

  2. [Public health pests. Arthropods and rodents as causative disease agents as well as reservoirs and vectors of pathogens].

    PubMed

    Faulde, M; Freise, J

    2014-05-01

    Globally, infectious diseases pose the most important cause of death. Among known human pathogenic diseases, approximately 50 % are zoonoses. When considering emerging infectious diseases separately 73 % currently belong to the group of zoonoses. In Central Europe, hard ticks show by far the biggest potential as vectors of agents of human disease. Lyme borreliosis, showing an estimated annual incidence between 60,000 and 214,000 cases is by far the most frequent tick-borne disease in Germany. Continually, formerly unknown disease agents could be discovered in endemic vector species. Additionally, introduction of new arthropod vectors and/or agents of disease occur constantly. Recently, five mosquito species of the genus Aedes have been newly introduced to Europe where they are currently spreading in different regions. Uncommon autochthonous transmission of dengue and chikungunya fever viruses in Southern Europe could be directly linked to these vector species and of these Ae. albopictus and Ae. japonicus are currently reported to occur in Germany. The German Protection against Infection Act only covers the control of public health pests which are either active hematophagous vectors or mechanical transmitters of agents of diseases. Use of officially recommended biocidal products aiming to interrupt transmission cycles of vector-borne diseases, is confined to infested buildings only, including sewage systems in the case of Norway rat control. Outdoor vectors, such as hard ticks and mosquitoes, are currently not taken into consideration. Additionally, adjustments of national public health regulations, detailed arthropod vector and rodent reservoir mapping, including surveillance of vector-borne disease agents, are necessary in order to mitigate future disease risks.

  3. Total Knee Arthroplasty In Patients With Parkinson's Disease- A Critical Analysis of Available Evidence.

    PubMed

    Ashraf, Munis; Priyavadhana, Sruthi; Sambandam, Senthil Nathan; Mounasamy, Varatharaj; Sharma, Om Prakash

    2017-01-01

    In this era of modern medicine, there is an increase in life expectancy and thereby an ageing population. Among this group one of the most common neurological disorder is Parkinson disease and one of the most common operation done in elderly population is a total joint arthroplasty. But total joint arthroplasty in Parkinson disease is a relatively uncommon entity. There is sparse literature available with regards to total knee arthroplasty (TKA) in Parkinson disease. This review focusses on the necessity, complications and previous experiences on TKA in PD based on the literature available. The review was conducted after a series of advanced search in the following medical databases; Pub med, Biomed central, Cochrane and Google scholar for articles related to total knee replacement in patients with Parkinson's disease. The following keywords were used; Total knee arthroplasty, Parkinson's disease, Hoehn and Yahr, Flexion Contracture. The review indicates that the functional outcome is comparable to that of controls in immediate post-operative phase, one year and three-year phase, but the long term functional outcome seems to deteriorate significantly. Total knee arthroplasty can serve as an effective tool in alleviating pain in short term as well as long term periods, whereas the functional outcome seems to deteriorate post operatively on a long-term basis. Nevertheless, TKA in PD is a challenging situation, thereby necessitating a holistic approach with the efforts from various specialists needed at each stage to ensure a successful operation.

  4. Paediatric Active Enhanced Disease Surveillance inaugural annual report, 2014.

    PubMed

    Zurynski, Yvonne A; McRae, Jocelynne E; Quinn, Helen E; Wood, Nicholas J; Macartney, Kristine K

    2016-09-30

    The Paediatric Active Enhanced Disease Surveillance (PAEDS) network is a hospital-based active surveillance system employing prospective case ascertainment of selected uncommon vaccine preventable diseases and potential adverse events following immunisation (AEFI). PAEDS enhances other Australian surveillance systems by providing prospective detailed clinical and laboratory data for the same child. Specialist surveillance nurses screen hospital admissions, emergency department records, laboratory and other data, to prospectively identify hospitalised children aged under 15 years in 5 paediatric tertiary referral hospitals in New South Wales, Victoria, South Australia, Western Australia and Queensland. Standardised protocols and case definitions are used across all sites. Conditions under surveillance include vaccine preventable diseases: acute flaccid paralysis, varicella, pandemic and seasonal influenza and pertussis, and potential AEFIs: febrile seizures and intussusception. PAEDS also conducts surveillance for acute childhood encephalitis. Since August 2007, PAEDS has recruited a total of 6,227 hospitalised cases in total, for all conditions. From January to December 2014, there were 1,220 cases recruited across all conditions. Key outcomes include: enhanced acute flaccid paralysis surveillance to reach World Health Organization targets; supporting varicella and influenza vaccination in children; confirmation of a known low risk of febrile seizures following the 1st dose of measles-mumps-rubella vaccine but no increased risk of febrile seizures after measles-mumps-rubella-varicella vaccine, and a slightly increased risk of developing intussusception 1-7 days after rotavirus vaccination in infants aged less than 3 months. Acute childhood encephalitis data facilitated rapid investigation and response to the enterovirus 71 outbreak in 2013-2014. PAEDS provides unique policy-relevant data. This is the first of planned PAEDS annual reports to Communicable Diseases

  5. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

    PubMed

    Chaussenot, A; Rouzier, C; Quere, M; Plutino, M; Ait-El-Mkadem, S; Bannwarth, S; Barth, M; Dollfus, H; Charles, P; Nicolino, M; Chabrol, B; Vialettes, B; Paquis-Flucklinger, V

    2015-05-01

    WFS1 mutations are responsible for Wolfram syndrome (WS) characterized by juvenile-onset diabetes mellitus and optic atrophy, and for low-frequency sensorineural hearing loss (LFSNHL). Our aim was to analyze the French cohort of 96 patients with WFS1-related disorders in order (i) to update clinical and molecular data with 37 novel affected individuals, (ii) to describe uncommon phenotypes and, (iii) to precise the frequency of large-scale rearrangements in WFS1. We performed quantitative polymerase chain reaction (PCR) in 13 patients, carrying only one heterozygous variant, to identify large-scale rearrangements in WFS1. Among the 37 novel patients, 15 carried 15 novel deleterious putative mutations, including one large deletion of 17,444 base pairs. The analysis of the cohort revealed unexpected phenotypes including (i) late-onset symptoms in 13.8% of patients with a probable autosomal recessive transmission; (ii) two siblings with recessive optic atrophy without diabetes mellitus and, (iii) six patients from four families with dominantly-inherited deafness and optic atrophy. We highlight the expanding spectrum of WFS1-related disorders and we show that, even if large deletions are rare events, they have to be searched in patients with classical WS carrying only one WFS1 mutation after sequencing. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Riga-Fede disease and neonatal teeth.

    PubMed

    Costacurta, M; Maturo, P; Docimo, R

    2012-01-01

    The aim of this study is to present a case of Riga-Fede disease (RFD). RFD is a benign and uncommon mucosal disorder, characterized by an ulceration of the tongue, often caused by repetitive traumatic injuries due to backward and forward movements of the tongue over the mandibular anterior incisors. RFD is most commonly associated with the eruption of primary lower incisor in older infants or natal-neonatal teeth in newborns. A 2-month-old female infant was referred to our Paediatric Dentistry Unit for ulceration (13 mm diameter) on the ventral surface of the tongue and neonatal teeth. The extraction of neonatal teeth was selected as treatment of choice, over more conservative treatments, for the rapid resolution of the lesion and for the limited risk of inadequate nutrients intake. The extracted teeth underwent a macroscopic/microscopic examination. The complete healing of the lesion took 4 weeks; subsequently, the infant, revised at the 1-year follow-up visit. Early detection of RFD is recommended because such lesions properly may induce deformity or mutilation of tongue, dehydration, inadequate nutrients intake by the infant and growth retardation.

  7. The application of optical coherence tomography angiography in retinal diseases.

    PubMed

    Sambhav, Kumar; Grover, Sandeep; Chalam, Kakarla V

    Optical coherence tomography angiography (OCTA) is a new, noninvasive imaging technique that generates real-time volumetric data on chorioretinal vasculature and its flow pattern. With the advent of high-speed optical coherence tomography, established enface chorioretinal segmentation, and efficient algorithms, OCTA generates images that resemble an angiogram. The principle of OCTA involves determining the change in backscattering between consecutive B-scans and then attributing the differences to the flow of erythrocytes through retinal blood vessels. OCTA has shown promise in the evaluation of common ophthalmologic diseases such as diabetic retinopathy, age-related macular degeneration, and retinal vascular occlusions. It quantifies vascular compromise reflecting the severity of diabetic retinopathy. OCTA detects the presence of choroidal neovascularization in exudative age-related macular degeneration and maps loss of choriocapillaris in nonexudative age-related macular degeneration. We describe principles of OCTA and findings in common and some uncommon retinal pathologies. Finally, we summarize its potential future applications. Its current limitations include a relatively small field of view, inability to show leakage, and a tendency for image artifacts. Further larger studies will define OCTAs utility in clinical settings and establish if the technology may offer its utility in decreasing morbidity through early detection and guide therapeutic interventions in retinal diseases. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. [Infective fungal endocarditis in patients with no previous cardiac disease].

    PubMed

    Marcano Sanz, L; Naranjo Ugalde, A; González Guillén, A; Bermúdez Gutiérrez, G; Frías Griskho, F

    2013-02-01

    Infective endocarditis is a serious and uncommon condition affecting the endocardium. Less than 10% of these cases are of fungal origin. A growing number of individuals are at high risk, due to insertion of central venous catheters, total parenteral nutrition and prolonged exposure to broad-spectrum antibiotics, even without previous heart diseases. We retrospectively analysed the records of six children with Candida endocarditis, reviewing the comorbidities, clinical outcome, and treatment. The antifungal agents used were amphotericin B, 5-fluorocytosine and fluconazole. Patients underwent surgical excision of vegetation, five tricuspid valve repairs and one mitral valve replacement. There were no hospital deaths, and one child needed a new valvuloplasty one year later. The mean follow up was five years, and all have good valvular function without recurrent endocarditis. A combination of synergistic long-term antifungal treatment and early surgical intervention is recommended. Copyright © 2011 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  9. Spontaneous coronary artery dissection: a disease-specific, social networking community-initiated study.

    PubMed

    Tweet, Marysia S; Gulati, Rajiv; Aase, Lee A; Hayes, Sharonne N

    2011-09-01

    To develop and assess the feasibility of a novel method for identification, recruitment, and retrospective and prospective evaluation of patients with rare conditions. This pilot study is a novel example of "patient-initiated research." After being approached by several members of an international disease-specific support group on a social networking site, we used it to identify patients who had been diagnosed as having at least 1 episode of spontaneous coronary artery dissection and recruited them to participate in a clinical investigation of their condition. Medical records were collected and reviewed, the original diagnosis was independently confirmed by review of imaging studies, and health status (both interval and current) was assessed via specially designed questionnaires and validated assessment tools. Recruitment of all 12 participants was complete within 1 week of institutional review board approval (March 18, 2010). Data collection was completed November 18, 2010. All participants completed the study questionnaires and provided the required medical records and coronary angiograms and ancillary imaging data. This study involving patients with spontaneous coronary artery dissection demonstrates the feasibility of and is a successful model for developing a "virtual" multicenter disease registry through disease-specific social media networks to better characterize an uncommon condition. This study is a prime example of patient-initiated research that could be used by other health care professionals and institutions.

  10. Tricuspid atresia

    MedlinePlus

    Tri atresia; Valve disorder - tricuspid atresia; Congenital heart - tricuspid atresia; Cyanotic heart disease - tricuspid atresia ... Tricuspid atresia is an uncommon form of congenital heart disease. It affects about 5 in every 100, ...

  11. Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.

    PubMed

    Huynh, Nancy; Jeffrey, Brett G; Turriff, Amy; Sieving, Paul A; Cukras, Catherine A

    2014-03-01

    Inherited retinal diseases are uncommon, and the likelihood of having more than one hereditary disorder is rare. Here, we report a case of Stargardt disease and congenital stationary night blindness (CSNB) in the same patient, and the identification of two novel in-frame deletions in the GRM6 gene. The patient underwent an ophthalmic exam and visual function testing including: visual acuity, color vision, Goldmann visual field, and electroretinography (ERG). Imaging of the retina included fundus photography, spectral-domain optical coherence tomography (OCT), and fundus autofluorescence. Genomic DNA was PCR-amplified for analysis of all coding exons and flanking splice sites of both the ABCA4 and GRM6 genes. A 46-year-old woman presented with recently reduced central vision and clinical findings of characteristic yellow flecks consistent with Stargardt disease. However, ERG testing revealed an ERG phenotype unusual for Stargardt disease but consistent with CSNB1. Genetic testing revealed two previously reported mutations in the ABCA4 gene and two novel deletions in the GRM6 gene. Diagnosis of concurrent Stargardt disease and CSNB was made on the ophthalmic history, clinical examination, ERG, and genetic testing. This case highlights that clinical tests need to be taken in context, and that co-existing retinal dystrophies and degenerations should be considered when clinical impressions and objective data do not correlate.

  12. Periodic Paralysis and Encephalopathy as Initial Manifestations of Graves' Disease: Case Report and Review of the Literature.

    PubMed

    Tsironis, Theocharis; Tychalas, Athanasios; Kiourtidis, Dimitrios; Kountouras, Jannis; Xiromerisiou, Georgia; Rudolf, Jobst; Deretzi, Georgia

    2017-07-01

    Thyrotoxic periodic paralysis (TPP) is an uncommon complication of Graves' disease, characterized by the triad of acute hypokalemia without total body potassium deficit, episodic muscle paralysis, and thyrotoxicosis. Graves' encephalopathy is an extremely rare form of encephalopathy associated with autoimmune thyroid disease (EAATD), characterized by neuropsychiatric symptoms, increased antithyroid antibodies and cerebrospinal fluid protein concentration, nonspecific electroencephalogram abnormalities, and cortico-responsiveness. Coexistence of both these complications in the same patient has not been reported before. We herein present a 48-year-old white male patient with TPP and encephalopathy as initial presentations of Graves' disease. Flaccid tetraparesis was reversed a few hours after potassium level correction and the patient did not suffer any relapse with the successful pharmaceutical management of the thyroid function. One month later, the patient presented with dizziness and behavioral symptoms, such as inappropriate laughter and anger. Brain magnetic resonance imaging revealed meningeal enhancement and cerebrospinal fluid analysis showed a mild protein increase, with a blood-brain barrier disruption. With the suspicion of EAATD, the patient was treated with high doses of corticosteroids and improved dramatically. To our knowledge this is the first reported coexistence of potentially treatable TPP and EAATD as initial neurological manifestations of Graves' disease, thereby underscoring the necessity of suspicion of possible underlying Graves' disease in patients with acute paralysis and encephalopathy of unclear origin.

  13. Menstrual management and reproductive concerns in adolescent and young adult women with underlying hematologic or oncologic disease.

    PubMed

    Quinn, Sheila M; Louis-Jacques, Jennifer

    2016-08-01

    Heavy menstrual bleeding is common among adolescent and young adult women, and can affect health-related quality of life. The cause of heavy menstrual bleeding is not uncommonly because of an underlying hematologic or oncologic disease process, which substantially influences the way patients are counseled and treated. Options for menstrual management are more numerous today than ever before and range from minimizing monthly blood loss to suppressing the cycle altogether. However, an underlying bleeding disorder or malignancy can introduce many nuances and limits in individual patient care, which this review highlights. Additionally, because survival rates for adolescent and young adult cancers are improving, more of these patients are planning for lives after their disease, which may include starting or adding to a family. Options for fertility preservation during cancer therapy regimens are solidifying and both primary practitioners and subspecialists should be aware of the possibilities. Patients with underlying hematologic or oncologic disease require management of menstrual bleeding, but also deserve a comprehensive evaluation and counseling regarding their individualized contraceptive needs and fertility preservation options during their reproductive years. This review employs the latest evidence from current literature to help guide clinicians caring for this unique demographic.

  14. Recent trends in control methods for bacterial wilt diseases caused by Ralstonia solanacearum.

    PubMed

    Yuliar; Nion, Yanetri Asi; Toyota, Koki

    2015-01-01

    Previous studies have described the development of control methods against bacterial wilt diseases caused by Ralstonia solanacearum. This review focused on recent advances in control measures, such as biological, physical, chemical, cultural, and integral measures, as well as biocontrol efficacy and suppression mechanisms. Biological control agents (BCAs) have been dominated by bacteria (90%) and fungi (10%). Avirulent strains of R. solanacearum, Pseudomonas spp., Bacillus spp., and Streptomyces spp. are well-known BCAs. New or uncommon BCAs have also been identified such as Acinetobacter sp., Burkholderia sp., and Paenibacillus sp. Inoculation methods for BCAs affect biocontrol efficacy, such as pouring or drenching soil, dipping of roots, and seed coatings. The amendment of different organic matter, such as plant residue, animal waste, and simple organic compounds, have frequently been reported to suppress bacterial wilt diseases. The combined application of BCAs and their substrates was shown to more effectively suppress bacterial wilt in the tomato. Suppression mechanisms are typically attributed to the antibacterial metabolites produced by BCAs or those present in natural products; however, the number of studies related to host resistance to the pathogen is increasing. Enhanced/modified soil microbial communities are also indirectly involved in disease suppression. New promising types of control measures include biological soil disinfection using substrates that release volatile compounds. This review described recent advances in different control measures. We focused on the importance of integrated pest management (IPM) for bacterial wilt diseases.

  15. Recent Trends in Control Methods for Bacterial Wilt Diseases Caused by Ralstonia solanacearum

    PubMed Central

    Yuliar; Nion, Yanetri Asi; Toyota, Koki

    2015-01-01

    Previous studies have described the development of control methods against bacterial wilt diseases caused by Ralstonia solanacearum. This review focused on recent advances in control measures, such as biological, physical, chemical, cultural, and integral measures, as well as biocontrol efficacy and suppression mechanisms. Biological control agents (BCAs) have been dominated by bacteria (90%) and fungi (10%). Avirulent strains of R. solanacearum, Pseudomonas spp., Bacillus spp., and Streptomyces spp. are well-known BCAs. New or uncommon BCAs have also been identified such as Acinetobacter sp., Burkholderia sp., and Paenibacillus sp. Inoculation methods for BCAs affect biocontrol efficacy, such as pouring or drenching soil, dipping of roots, and seed coatings. The amendment of different organic matter, such as plant residue, animal waste, and simple organic compounds, have frequently been reported to suppress bacterial wilt diseases. The combined application of BCAs and their substrates was shown to more effectively suppress bacterial wilt in the tomato. Suppression mechanisms are typically attributed to the antibacterial metabolites produced by BCAs or those present in natural products; however, the number of studies related to host resistance to the pathogen is increasing. Enhanced/modified soil microbial communities are also indirectly involved in disease suppression. New promising types of control measures include biological soil disinfection using substrates that release volatile compounds. This review described recent advances in different control measures. We focused on the importance of integrated pest management (IPM) for bacterial wilt diseases. PMID:25762345

  16. Penetrating chest trauma caused by a blank cartridge actuated rubber ball projectile: case presentation and ballistic investigation of an uncommon weapon type.

    PubMed

    Frank, Matthias; Peters, Dieter; Klemm, Wolfram; Grossjohann, Rico; Ekkernkamp, Axel; Bockholdt, Britta; Seifert, Julia

    2017-09-01

    Recently, an increasing number of an uncommon weapon type based on a caliber 6-mm Flobert blank cartridge actuated revolver which discharges 10-mm-diameter rubber ball projectiles has been confiscated by police authorities following criminal offenses. A recent trauma case presenting with a penetrating chest injury occasioned an investigation into the basic ballistic parameters of this type of weapon. Kinetic energy E of the test projectiles was calculated between 5.8 and 12.5 J. Energy density ED of the test projectiles was close to or higher than the threshold energy density of human skin. It can be concluded that penetrating skin injuries due to free-flying rubber ball projectiles discharged at close range cannot be ruled out. However, in case of a contact shot, the main injury potential of this weapon type must be attributed to the high energy density of the muzzle gas jet which may, similar to well-known gas or alarm weapons, cause life-threatening or even lethal injuries.

  17. Advance care planning for patients with chronic respiratory diseases: a systematic review of preferences and practices.

    PubMed

    Jabbarian, Lea J; Zwakman, Marieke; van der Heide, Agnes; Kars, Marijke C; Janssen, Daisy J A; van Delden, Johannes J; Rietjens, Judith A C; Korfage, Ida J

    2018-03-01

    Advance care planning (ACP) supports patients in identifying and documenting their preferences and timely discussing them with their relatives and healthcare professionals (HCPs). Since the British Thoracic Society encourages ACP in chronic respiratory disease, the objective was to systematically review ACP practice in chronic respiratory disease, attitudes of patients and HCPs and barriers and facilitators related to engagement in ACP. We systematically searched 12 electronic databases for empirical studies on ACP in adults with chronic respiratory diseases. Identified studies underwent full review and data extraction. Of 2509 studies, 21 were eligible: 10 were quantitative studies. Although a majority of patients was interested in engaging in ACP, ACP was rarely carried out. Many HCPs acknowledged the importance of ACP but were hesitant to initiate it. Barriers to engagement in ACP were the complex disease course of patients with chronic respiratory diseases, HCPs' concern of taking away patients' hopes and lack of continuity of care. The identification of trigger points and training of HCPs on how to communicate sensitive topics were identified as facilitators to engagement in ACP. In conclusion, ACP is surprisingly uncommon in chronic respiratory disease, possibly due to the complex disease course of chronic respiratory diseases and ambivalence of both patients and HCPs to engage in ACP. Providing patients with information about their disease can help meeting their needs. Additionally, support of HCPs through identification of trigger points, training and system-related changes can facilitate engagement in ACP. CRD42016039787. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  18. Cytotoxicity mechanisms in melanoma cells and UPLC-QTOF/MS2 chemical characterization of two Brazilian stingless bee propolis: Uncommon presence of piperidinic alkaloids.

    PubMed

    Cisilotto, Júlia; Sandjo, Louis P; Faqueti, Larissa G; Fernandes, Heloísa; Joppi, Débora; Biavatti, Maique W; Creczynski-Pasa, Tânia Beatriz

    2018-02-05

    The present study characterized propolis extracts produced by Scaptotrigona bipunctata (Tubuna) and Melipona quadrifasciata (Mandaçaia) by LC-MS/MS; their cytotoxicity as well as the mechanism of action in a melanoma cellular model were also assessed. The chemical characterization performed by UPLC-ESI-QTOF/MS 2 analysis revealed uncommon presence of piperidinic alkaloids in Tubuna's propolis extract together with C-glycopyranoside flavonoids. Mandaçaia's propolis collected in the same area rather presented terpenoids and flavonoids. Regarding the mechanism of cytotoxicity, propolis extracts increased the accumulation of reactive oxygen species (ROS), reduced the potential of mitochondrial membrane, induced a decrease in the proteins Bcl-2 and AKT-3 levels, and decreased melanoma cells' migration and invasion. Both propolis extracts induced apoptosis while only Mandaçaia's propolis extract induced cell cycle arrest in G2/M. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Tissue loss (white syndrome) in the coral Montipora capitata is a dynamic disease with multiple host responses and potential causes

    USGS Publications Warehouse

    Work, Thierry M.; Russell, Robin; Aeby, Greta S.

    2012-01-01

    Tissue loss diseases or white syndromes (WS) are some of the most important coral diseases because they result in significant colony mortality and morbidity, threatening dominant Acroporidae in the Caribbean and Pacific. The causes of WS remain elusive in part because few have examined affected corals at the cellular level. We studied the cellular changes associated with WS over time in a dominant Hawaiian coral, Montipora capitata, and showed that: (i) WS has rapidly progressing (acute) phases mainly associated with ciliates or slowly progressing (chronic) phases mainly associated with helminths or chimeric parasites; (ii) these phases interchanged and waxed and waned; (iii) WS could be a systemic disease associated with chimeric parasitism or a localized disease associated with helminths or ciliates; (iv) corals responded to ciliates mainly with necrosis and to helminths or chimeric parasites with wound repair; (v) mixed infections were uncommon; and (vi) other than cyanobacteria, prokaryotes associated with cell death were not seen. Recognizing potential agents associated with disease at the cellular level and the host response to those agents offers a logical deductive rationale to further explore the role of such agents in the pathogenesis of WS in M. capitata and helps explain manifestation of gross lesions. This approach has broad applicability to the study of the pathogenesis of coral diseases in the field and under experimental settings.

  20. Cushing disease revealed by bilateral atypical central serous chorioretinopathy: case report.

    PubMed

    Giovansili, Iama; Belange, Georeges; Affortit, Aude

    2013-01-01

    We report the case of a patient with Cushing disease revealed by bilateral central serous chorioretinopathy (CSCR). We present the clinical history, physical findings, laboratory results, and imaging studies of a 53-year-old Chinese woman with a Cushing disease revealed by bilateral CSCR. The association with CSCR and the pertinent literature are reviewed. A 53-year-old patient initially presented to the Department of Ophthalmology with a 4-week history of decreased vision in the left eye. Standard ophthalmologic examination and fluorescein angiography established the diagnosis of bilateral CSCR. Systemic clinical signs and biochemical analysis indicated hypercortisolism. Magnetic resonance imaging (MRI) of the pituitary gland showed a left-side lesion compatible with a microadenoma. The diagnosis of Adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome secondary to a pituitary microadenoma was selected. Endoscopic endonasal transsphenoidal surgery was performed and the pituitary adenoma was successfully removed. The histology confirmed the presence of ACTH-immunopositive pituitary adenoma. Early postoperative morning cortisol levels indicated early remission. At 6 weeks postoperatively, the patient's morning cortisol remains undetectable, and serous retinal detachments had regressed. CSCR is an uncommon manifestation of endogenous Cushing syndrome. It can be the first presentation of hypercortisolism caused by Cushing disease. CSCR should be considered when assessing patients with Cushing syndrome complaining of visual disorders. On the other hand, it is useful in patients with an atypical form of CSCR to exclude Cushing's syndrome.

  1. A literature review and case report of hand, foot and mouth disease in an immunocompetent adult.

    PubMed

    Omaña-Cepeda, Carlos; Martínez-Valverde, Andrea; del Mar Sabater-Recolons, María; Jané-Salas, Enric; Marí-Roig, Antonio; López-López, José

    2016-03-15

    To report an uncommon case of hand, foot and mouth disease, (HFMD) in an immunocompetent adult; a highly infectious disease, characterized by the appearance of vesicles on the mouth, hands and feet, associated with coxsackieviruses and enteroviruses; including a literature review. A 23 year Caucasian male with no medical or surgical history, no allergies, was not taking any medication and smoked ten cigarettes a day, suffering from discomfort in the oral cavity; itching, burning and pain when swallowing associated with small erythematous lesions located on the hard palate, and small ulcers in tonsillar pillars and right buccal mucosa. Mild fever of 37.8 °C and general malaise. The patient reported he had had contact with a child diagnosed with HFMD. From his background and symptoms, the patient was diagnosed with HFMD. Following symptomatic treatment, the symptoms remitted in 7 days. A literature review in MEDLINE (PubMed). The inclusion criteria were for studies on humans over the last 5 years, using the keywords HFMD. We found 925 articles, which were subsequently reduced to 52 documents after applying the inclusion criteria. Maculopapular lesions were found on hands and feet. Dentists may have a key role diagnosing the disease. A surveillance system to predict future outbreaks, encourage early diagnosis, put appropriate public health measures in place and research vaccine development is vitally important in order to control the disease.

  2. Calcium channel blockers and esophageal sclerosis: should we expect exacerbation of interstitial lung disease?

    PubMed

    Seretis, Charalampos; Seretis, Fotios; Gemenetzis, George; Liakos, Nikolaos; Pappas, Apostolos; Gourgiotis, Stavros; Lagoudianakis, Emmanuel; Keramidaris, Dimitrios; Salemis, Nikolaos

    2012-01-01

    Esophageal sclerosis is the most common visceral manifestation of systemic sclerosis, resulting in impaired esophageal clearance and retention of ingested food; in addition, co-existence of lung fibrosis with esophageal scleroderma is not uncommon. Both the progression of generalized connective tissue disorders and the damaging effect of chronic aspiration due to esophageal dysmotility appear to be involved in this procedure of interstitial fibrosis. Nifedipine is a widely prescribed calcium antagonist in a significant percentage of rheumatologic patients suffering from Raynaud syndrome, in order to inhibit peripheral vasospasm. Nevertheless, blocking calcium channels has proven to contribute to exacerbation of gastroesophageal reflux, which consequently can lead to chronic aspiration. We describe the case of severe exacerbation of interstitial lung disease in a 76-year-old female with esophageal sclerosis who was treated with oral nifedipine for Raynaud syndrome.

  3. Corneo-scleral contact lenses in an uncommon case of keratoconus with high hyperopia and astigmatism.

    PubMed

    Porcar, Esteban; Montalt, Juan Carlos; España-Gregori, Enrique; Peris-Martínez, Cristina

    2017-10-01

    To analyse the visual quality achieved by fitting corneo-scleral contact lenses (CScL) in an uncommon case of bilateral keratoconus, high hyperopia and astigmatism. A 45-year-old man presented for eye examination due to the unsatisfactory quality of his vision wearing soft toric contact lenses. He presented high hyperopia and astigmatism with bilateral keratoconus. He was fitted with CScL to correct his irregular astigmatism and ocular aberrations. A diagnostic trial set was used in the fitting process and he was assessed according to standardised fitting methodology. Visual acuity, corneal topography, biometry and ocular aberrations were evaluated. The follow-up period was 1year. The best spectacle-corrected visual acuity was 20/32 with +8.00/-4.50×30° for the right eye (RE) and 20/25 with +7.75/-2.25×120° for the left eye (LE). After CScL fitting, visual acuity was improved to 20/20 and 20/16 for the RE and LE, respectively. The patient wore these contact lenses an average of 13h a day. The total high order aberrations decreased by approximately 79% in the RE (2.37-0.50μm) and 47% in the LE (1.04-0.55μm) after CScL fitting. Visual quality and wearing time were maintained after 1year wearing CScL. In addition, no adverse ocular effects were found during this period. The present case report describes how the patient had CScL fitted successfully for management of keratoconus with high hyperopia and astigmatism. They provided optimal visual quality, along with prolonged use times and no adverse effects to the cornea. Copyright © 2017 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

  4. The first Swedish H1N2 swine influenza virus isolate represents an uncommon reassortant.

    PubMed

    Bálint, Adám; Metreveli, Giorgi; Widén, Frederik; Zohari, Siamak; Berg, Mikael; Isaksson, Mats; Renström, Lena Hm; Wallgren, Per; Belák, Sándor; Segall, Thomas; Kiss, István

    2009-10-28

    The European swine influenza viruses (SIVs) show considerable diversity comprising different types of H1N1, H3N2, and H1N2 strains. The intensifying full genome sequencing efforts reveal further reassortants within these subtypes. Here we report the identification of an uncommon reassortant variant of H1N2 subtype influenza virus isolated from a pig in a multisite herd where H1N2 swine influenza was diagnosed for the first time in Sweden during the winter of 2008-2009. The majority of the European H1N2 swine influenza viruses described so far possess haemagglutinin (HA) of the human-like H1N2 SIV viruses and the neuraminidase (NA) of either the European H1N2 or H3N2 SIV-like viruses. The Swedish isolate has an avian-like SIV HA and a H3N2 SIV-like NA, which is phylogenetically more closely related to H3N2 SIV NAs from isolates collected in the early '80s than to the NA of H3N2 origin of the H1N2 viruses isolated during the last decade, as depicted by some German strains, indicative of independent acquisition of the NA genes for these two types of reassortants. The internal genes proved to be entirely of avian-like SIV H1N1 origin. The prevalence of this SIV variant in pig populations needs to be determined, as well as the suitability of the routinely used laboratory reagents to analyze this strain.The description of this H1N2 SIV adds further information to influenza epidemiology and supports the necessity of surveillance for influenza viruses in pigs.

  5. Pregnancy-associated retinal diseases and their management.

    PubMed

    Errera, Marie-Hélène; Kohly, Radha P; da Cruz, Lyndon

    2013-01-01

    Pregnancy-associated retinal diseases are conditions that may occur uniquely in pregnancy or, more commonly, general conditions that may worsen or alter during pregnancy as a result of hematologic, hormonal, metabolic, cardiovascular, and immunologic changes. Diabetic retinopathy (DR) is by far the most common retinal condition that is altered by pregnancy. However, there are currently no widely accepted, precise clinical guidelines regarding its management during pregnancy. At present it is not possible to predict who will regress and who will progress without treatment. Some of the variation in progression of DR in pregnancy may be a result of well-known risk factors such as hypertension or inadequate glycemic control prior to pregnancy. Other pregnancy-associated retinal diseases are relatively uncommon, and their treatments are poorly characterized. Pre-existing conditions include the white dot syndromes, such as punctuate inner choroidopathy and ocular histoplasmosis syndrome, as well as chorioretinal neovascularization from many other etiologies. Retinal and chorioretinal disorders that can arise during pregnancy include central serous chorioretinopathy and occlusive vasculopathy such as retinal artery occlusion (Purtschers-like retinopathy) and retinal vein occlusion. There remains a small group that appear to be unique to pregnancy, with pre-eclampsia- and eclampsia-associated retinopathy, disseminated intravascular coagulopathy, or amniotic fluid embolism being the best described. In angiogenic retinal diseases outside of pregnancy, the use of anti-vascular endothelial growth factor (anti-VEGF agents) has proven helpful. There are no safety data about the use of anti-VEGF agents during pregnancy, and conventionally the proposed interventions have been laser photocoagulation and systemic or intravitreal injections of steroids. Most of the literature on the treatment of pregnancy associated-chorioretinal neovascularization is anecdotal. Copyright © 2013

  6. Prospective study of periostitis and finger clubbing in primary biliary cirrhosis and other forms of chronic liver disease.

    PubMed Central

    Epstein, O; Dick, R; Sherlock, S

    1981-01-01

    The association of finger clubbing and periostitis has been reported in primary biliary cirrhosis and, more rarely, in other forms of chronic liver disease. The prevalence of periostitis and its relationship to finger clubbing is unknown. In this prospective study, we have determined the prevalence of periostitis and finger clubbing in 74 patients with primary biliary cirrhosis and 54 with other forms of chronic liver disease. Clubbing was present in 24% of patients with primary biliary cirrhosis, 29% with HBsAg negative chronic active hepatitis, and 23% in the group of miscellaneous liver diseases. Symmetrical periostitis affecting the tibiae and fibulae occurred in 35% of patients with primary biliary cirrhosis, 29% with chronic, active hepatitis and 40% of patients in the miscellaneous group. The distal radii and ulnae were affected in only eight patients (6%). In primary biliary cirrhosis, the presence of finger clubbing was strongly associated with periostitis (P less than 0.01), but this association was uncommon in other forms of chronic liver disease. In all forms of chronic liver disease periostitis commonly occurs in the absence of finger clubbing. Marked tenderness over the distal leg bones is a reliable sign of underlying periostitis, but this sign is present in only a third of affected patients. This study indicates that periostitis affecting the lower leg bones is common in patients with chronic liver disease, and its presence should be sought whether or not the patient has finger clubbing. Images Fig. 2 PMID:7227854

  7. ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands.

    PubMed

    Weersma, Rinse K; Zhernakova, Alexandra; Nolte, Ilja M; Lefebvre, Céline; Rioux, John D; Mulder, Flip; van Dullemen, Hendrik M; Kleibeuker, Jan H; Wijmenga, Cisca; Dijkstra, Gerard

    2008-03-01

    Inflammatory bowel disease (IBD)--Crohn's disease (CD) and ulcerative colitis (UC)--and celiac disease are intestinal inflammatory disorders with a complex genetic background. Recently, two novel genes were found to be associated with IBD susceptibility. One, an uncommon coding variant (rs11209026) in the gene encoding for the interleukin-23 receptor (IL23R), conferred strong protection against CD. The other, rs2241880 in the autophagy-related 16-like 1 gene (ATG16L1), was associated with CD. We performed a case-control study for the association of IBD with IL23R and ATG16L1 in a Dutch cohort. We also looked at the association of IL23R and ATG16L1 with celiac disease. Five hundred eighteen Dutch white IBD patients (311 CD and 207 UC, including 176 trios of patients with both parents), 508 celiac disease patients, and 893 healthy controls were studied for association with the rs11209026 (IL23R) and rs2241880 (ATG16L1) single nucleotide polymorphisms (SNP). The rs11209026 SNP in IL23R had a protective effect for IBD in the case-control analysis (odds ratio [OR] 0.19, 95% confidence interval [CI] 0.10-0.37, P= 6.6E-09). Both CD (OR 0.14, CI 0.06-0.37, P= 3.9E-07) and UC (OR 0.33, CI 0.15-0.73, P= 1.4E-03) were associated with IL23R. For ATG16L1, the rs2241880 SNP was associated with CD susceptibility (OR 1.36, CI 1.12-1.66, P= 0.0017). The population-attributable risk of carrying allele G is 0.24 and is 0.19 for homozygosity for allele G in CD. No association was found between IL23R or ATG16L1 and celiac disease. We confirmed the association of IL23R and ATG16L1 with CD susceptibility and also the association of IL23R with UC. We found IL23R and ATG16L1 were not associated with celiac disease susceptibility.

  8. A 3-month-old infant with atypical Kawasaki disease.

    PubMed

    Lertamornkitti, Nichkamol; Wangjirapan, Anchalee

    2018-05-30

    We report a 3-month-old girl who presented with high-grade fever for 3 days. Her initial physical examination was normal. Investigation showed abnormal white cells in her urine. She was diagnosed with a urinary tract infection and received an antibiotic for 1 day. After that, she developed a generalised maculopapular rash over her body. An adverse drug reaction from the antibiotic was suspected, and the patient was referred to our hospital. On admission, she still had fever and was irritable. She was diagnosed with sepsis and given another broad-spectrum antibiotic for 2 days. However, her fever still persisted. An additional thorough physical examination showed redness of her BCG inoculation scar. Consequently, a diagnosis of Kawasaki disease (KD) was made. After she received intravenous immunoglobulin, her fever diminished straight away. This case highlights an unusual manifestation of KD in an uncommonly young age group. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  9. Recovery of adrenal function in a patient with confirmed Addison's disease.

    PubMed

    Baxter, M; Gorick, S; Swords, F M

    2013-01-01

    Addison's disease is a condition characterised by immune-mediated destruction of the adrenal glands leading to a requirement of lifelong replacement therapy with mineralocorticoid and glucocorticoid. We present a case of a 53-year-old man who presented at the age of 37 years with nausea, fatigue and dizziness. He was found to have postural hypotension and buccal pigmentation. His presenting cortisol level was 43 nmol/l with no response to Synacthen testing. He made an excellent response to conventional replacement therapy with hydrocortisone and fludrocortisone and then remained well for 16 years. On registering with a new endocrinologist, his hydrocortisone dose was revised downwards and pre- and post-dose serum cortisol levels were assessed. His pre-dose cortisol was surprisingly elevated, and so his dose was further reduced. Subsequent Synacthen testing was normal and has remained so for further 12 months. He is now asymptomatic without glucocorticoid therapy, although he continues on fludrocortisone 50 μg daily. His adrenal antibodies are positive, although his ACTH and renin levels remain elevated after treatment. Addison's disease is generally deemed to lead to irreversible cell-mediated immune destruction of the adrenal glands. For this reason, patients receive detailed counselling and education on the need for lifelong replacement therapy. To our knowledge, this is the third reported case of spontaneous recovery of the adrenal axis in Addison's disease. Recovery may therefore be more common than previously appreciated, which may have major implications for the treatment and monitoring of this condition, and for the education given to patients at diagnosis. Partial recovery from Addison's disease is possible although uncommon.Patients with long-term endocrine conditions on replacement therapy still benefit from regular clinical and biochemical assessment, to revisit optimal management.As further reports of adrenal axis recovery emerge, this may

  10. Non Hodgkin lymphoma of the ureter: a rare disease.

    PubMed

    Celia, Antonio; De Stefani, Stefano; Bruschi, Morgan; Micali, Salvatore; Sighinolfi, Maria Chiara; Bianchi, Giampaolo

    2004-12-01

    Non urotelial malignant neoplasm of the ureter has been rarely described, usually arising from muscular, vascular and nervous tissue. Primary lymphoma of the ureter is an uncommon finding; we report a case of primary Non Hodgkin Lymphoma of the ureter in young woman.

  11. Driven by Mutations: The Predictive Value of Mutation Subtype in EGFR-Mutated Non-Small Cell Lung Cancer.

    PubMed

    Castellanos, Emily; Feld, Emily; Horn, Leora

    2017-04-01

    EGFR-mutated NSCLC is a genetically heterogeneous disease that includes more than 200 distinct mutations. The implications of mutational subtype for both prognostic and predictive value are being increasingly understood. Although the most common EGFR mutations-exon 19 deletions or L858R mutations-predict sensitivity to EGFR tyrosine kinase inhibitors (TKIs), it is now being recognized that outcomes may be improved in patients with exon 19 deletions. Additionally, 10% of patients will have an uncommon EGFR mutation, and response to EGFR TKI therapy is highly variable depending on the mutation. Given the growing recognition of the genetic and clinical variation seen in this disease, the development of comprehensive bioinformatics-driven tools to both analyze response in uncommon mutation subtypes and inform clinical decision making will be increasingly important. Clinical trials of novel EGFR TKIs should prospectively account for the presence of uncommon mutation subtypes in study design. Copyright © 2016 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

  12. Chronic Disease Management Programmes: an adequate response to patients' needs?

    PubMed

    Rijken, Mieke; Bekkema, Nienke; Boeckxstaens, Pauline; Schellevis, François G; De Maeseneer, Jan M; Groenewegen, Peter P

    2014-10-01

    Inspired by American examples, several European countries are now developing disease management programmes (DMPs) to improve the quality of care for patients with chronic diseases. Recently, questions have been raised whether the disease management approach is appropriate to respond to patient-defined needs. In this article we consider the responsiveness of current European DMPs to patients' needs defined in terms of multimorbidity, functional and participation problems, and self-management. Information about existing DMPs was derived from a survey among country-experts. In addition, we made use of international scientific literature. Most European DMPs do not have a solid answer yet to the problem of multimorbidity. Methods of linking DMPs, building extra modules to deal with the most prevalent comorbidities and integration of case management principles are introduced. Rehabilitation, psychosocial and reintegration support are not included in all DMPs, and the involvement of the social environment of the patient is uncommon. Interventions tailored to the needs of specific social or cultural patient groups are mostly not available. Few DMPs provide access to individualized patient information to strengthen self-management, including active engagement in decision making. To further improve the responsiveness of DMPs to patients' needs, we suggest to monitor 'patient relevant outcomes' that might be based on the ICF-model. To address the needs of patients with multimorbidity, we propose a generic comprehensive model, embedded in primary care. A goal-oriented approach provides the opportunity to prioritize goals that really matter to patients. © 2012 John Wiley & Sons Ltd.

  13. Chronic Disease Management Programmes: an adequate response to patients’ needs?

    PubMed Central

    Rijken, Mieke; Bekkema, Nienke; Boeckxstaens, Pauline; Schellevis, François G.; De Maeseneer, Jan M.; Groenewegen, Peter P.

    2012-01-01

    Abstract Background  Inspired by American examples, several European countries are now developing disease management programmes (DMPs) to improve the quality of care for patients with chronic diseases. Recently, questions have been raised whether the disease management approach is appropriate to respond to patient‐defined needs. Objective  In this article we consider the responsiveness of current European DMPs to patients’ needs defined in terms of multimorbidity, functional and participation problems, and self‐management. Method  Information about existing DMPs was derived from a survey among country‐experts. In addition, we made use of international scientific literature. Results  Most European DMPs do not have a solid answer yet to the problem of multimorbidity. Methods of linking DMPs, building extra modules to deal with the most prevalent comorbidities and integration of case management principles are introduced. Rehabilitation, psychosocial and reintegration support are not included in all DMPs, and the involvement of the social environment of the patient is uncommon. Interventions tailored to the needs of specific social or cultural patient groups are mostly not available. Few DMPs provide access to individualized patient information to strengthen self‐management, including active engagement in decision making. Conclusion  To further improve the responsiveness of DMPs to patients’ needs, we suggest to monitor ‘patient relevant outcomes’ that might be based on the ICF‐model. To address the needs of patients with multimorbidity, we propose a generic comprehensive model, embedded in primary care. A goal‐oriented approach provides the opportunity to prioritize goals that really matter to patients. PMID:22712877

  14. Role of autoimmunity in nonviral chronic liver disease.

    PubMed

    Amarapurkar, D N; Amarapurkar, A D

    2000-11-01

    %). Autoimmune liver disease is not uncommon in India and should be suspected in all patients with chronic liver disease, especially in non-viral, non-alcoholic, female patients. The diagnosis of AIH should however be made on the composite scoring system given by international group and not only on the presence or absence of autoimmune markers.

  15. Demographics, clinical disease characteristics, and quality of life in a large cohort of psoriasis patients with and without psoriatic arthritis

    PubMed Central

    Truong, B; Rich-Garg, N; Ehst, BD; Deodhar, AA; Ku, JH; Vakil-Gilani, K; Danve, A; Blauvelt, A

    2015-01-01

    Innovation What is already known about the topic: psoriasis (PsO) is a common skin disease with major impact on quality of life (QoL). Patient-reported data on QoL from large number of PsO patients with and without psoriatic arthritis (PsA) are limited. What this study adds: In a large cohort referred to a university psoriasis center, patients with PsO and concomitant PsA (~30% in this group) had greater degrees of skin and nail involvement and experienced greater negative impacts on QoL. Despite large numbers of patients with moderate-to-severe disease, use of systemic therapy by community practitioners was uncommon. Background PsO and PsA are common diseases that have marked adverse impacts on QoL. The disease features and patient-reported QoL data comparing PsO and PsA patients are limited. Objective To identify and compare demographics, clinical disease characteristics, and QoL scores in a large cohort of PsO patients with and without PsA. Methods All PsO patients seen in a psoriasis specialty clinic, named the Center of Excellence for Psoriasis and Psoriatic Arthritis, were enrolled in an observational cohort. Demographic, QoL, and clinical data were collected from patient-reported questionnaires and from physical examinations performed by Center of Excellence for Psoriasis and Psoriatic Arthritis dermatologists and a rheumatologists. Cross sectional descriptive data were collected and comparisons between patients with PsO alone and those with concomitant PsA are presented. Results A total of 568 patients were enrolled in the database. Mean age of PsO onset was 28 years and mean disease duration was 18 years. Those with family history had an earlier onset of PsO by ~7 years. Mean body surface area involvement with PsO was 14%. Mean body mass index was 30.7. Prevalence of PsA was 29.8%. PsA patients had a higher mean body surface area compared to patients with PsO alone (16.7% vs 13.4%, P<0.05), higher prevalence of psoriatic nail changes (54.4% vs 36%, P<0

  16. Subdural empyema: Clinical presentations and management options for an uncommon neurosurgical emergency in a developing country.

    PubMed

    Chikani, M C; Mezue, W; Okorie, E; Mbachu, C; Ndubisi, C; Chikani, U N

    2017-10-01

    Controversy regarding the best management strategy for subdural empyema (SDE) attests to the persisting poor outcomes for this uncommon life threatening intracranial suppurative process. Late presentation confounds the problem in developed countries. While craniotomy is commonly recommended, it is not always possible in late presentation with advanced morbidity. The aim of this study was to identify the pattern of clinical presentation and explore the outcomes following management of SDE using burr hole, aspiration, and drainage (BAAD) in resource poor settings. This is a retrospective review of prospectively collected data of 18 patients presenting with SDE over a period of 10 years from two neurosurgical centers. Data was abstracted on patients' demographic characteristics, sources of SDE, clinical presentation and site of infection, methods of diagnosis, organisms isolated, treatments received, and outcome. Collected data was entered into the Statistical Package for the Social Sciences version 17 software and subjected to descriptive analysis for all variables. Majority of the patients presented late with Glasgow Coma Scale score GCS of 9/15. Altered sensorium was noted in 14 (77.8%) of the patients, 11 (61.1%) out of the 14 patients had ≤ grade 3 of Bannister and Williams level of consciousness. The mainstay of treatment for all patients was BAAD of abscess and administration of appropriate antibiotics. Fourteen patients (77.8%) were discharged on grade A of H.W. Mauser's grading system. Three mortalities were recorded only in patients who had grade 4 Bannister and Williams grading. BAAD is the near approximated option to standard craniotomy management in a limited resource facility and it has a very good clinical outcome. However, more studies are required to draw the final conclusion.

  17. A family cluster of hepatitis A virus due to an uncommon IA strain circulating in Campania (southern Italy), not associated with raw shellfish or berries: a wake-up call to implement vaccination against hepatitis A?

    PubMed

    Tosone, Grazia; Mascolo, Silvia; Bruni, Roberto; Taffon, Stefania; Equestre, Michele; Tosti, Maria Elena; Ciccaglione, Anna Rita; Martucci, Fiorella; Liberti, Alfonso; Iannece, Maria Donata; Orlando, Raffaele

    2016-09-01

    Hepatitis A virus is a widely occurring disease, with different prevalence rates between countries in the North and West and those in the South and East. In Italy endemicity is low/medium, but not homogeneously distributed: in the northern/central regions a large hepatitis A outbreak due to genotype IA, related to the consumption of contaminated mixed frozen berries, occurred between 2013 and 2014, whereas in southern Italian regions recurrent outbreaks of hepatitis A, due to the IB genotype, still result from consumption of raw seafood. In 2014 an uncommon genotype IA strain was isolated from five patients (2 adults and 3 children) with hepatitis A, living in the surroundings of Naples (Campania) who did not have any of the most common risk factors for hepatitis A in Italy, such as consumption of raw shellfish or frozen berries, or travel to endemic countries. Moreover, based on the analysis of viral sequences obtained, this strain differed from several others in the national database, which had been recently isolated during Italian outbreaks. This case report reinforces the need to implement both information campaigns about the prevention of hepatitis A and vaccination programmes in childhood; in addition, it would be suitable to sequence strains routinely not only during large outbreaks of hepatitis A in order to obtain a more detailed national database of HAV strains circulating in Italy.

  18. Spontaneous Coronary Artery Dissection: A Disease-Specific, Social Networking Community–Initiated Study

    PubMed Central

    Tweet, Marysia S.; Gulati, Rajiv; Aase, Lee A.; Hayes, Sharonne N.

    2011-01-01

    OBJECTIVE: To develop and assess the feasibility of a novel method for identification, recruitment, and retrospective and prospective evaluation of patients with rare conditions. PATIENTS AND METHODS: This pilot study is a novel example of “patient-initiated research.” After being approached by several members of an international disease-specific support group on a social networking site, we used it to identify patients who had been diagnosed as having at least 1 episode of spontaneous coronary artery dissection and recruited them to participate in a clinical investigation of their condition. Medical records were collected and reviewed, the original diagnosis was independently confirmed by review of imaging studies, and health status (both interval and current) was assessed via specially designed questionnaires and validated assessment tools. RESULTS: Recruitment of all 12 participants was complete within 1 week of institutional review board approval (March 18, 2010). Data collection was completed November 18, 2010. All participants completed the study questionnaires and provided the required medical records and coronary angiograms and ancillary imaging data. CONCLUSION: This study involving patients with spontaneous coronary artery dissection demonstrates the feasibility of and is a successful model for developing a “virtual” multicenter disease registry through disease-specific social media networks to better characterize an uncommon condition. This study is a prime example of patient-initiated research that could be used by other health care professionals and institutions. PMID:21878595

  19. Primary Endometrial Squamous Cell Carcinoma In Situ: Report of a rare disease.

    PubMed

    Jetley, Sujata; Jairajpuri, Zeeba S; Hassan, Mohammad J; Madaan, Garima; Jain, Reena

    2015-11-01

    Squamous cell carcinoma (SCC) of the endometrium, whether primary or secondary to cervical cancer, is a rare entity. Primary endometrial squamous cell carcinoma in situ is even more uncommon; it usually occurs in postmenopausal women and has a strong association with pyometra. We report a 60-year-old multiparous postmenopausal woman who presented to the Hakeem Abdul Hameed Centenary Hospital, New Delhi, India, in May 2014 with a lower abdominal swelling corresponding in size to a pregnancy of 26 gestational weeks and vaginal discharge of one year's duration. A total abdominal hysterectomy with a bilateral salpingooophorectomy was performed, which revealed an enlarged uterus with pyometra. Histopathology showed that the entire endometrial lining had been replaced with malignant squamous cells without invasion of the myometrium. Immunohistochemistry revealed that the tumour cells were positive for p63 with a high Ki-67 labelling index. No adjuvant therapy was required and the patient was disease-free at a seven-month follow-up.

  20. High Vitamin D-Binding Protein Concentration, Low Albumin, and Mode of Remission Predict Relapse in Crohn's Disease.

    PubMed

    Ghaly, Simon; Murray, Kevin; Baird, Angela; Martin, Katherine; Prosser, Ruth; Mill, Justine; Simms, Lisa A; Hart, Prue H; Radford-Smith, Graham; Bampton, Peter A; Lawrance, Ian C

    2016-10-01

    Vitamin D (25(OH)D) deficiency occurs in active Crohn's disease (CD) and may be secondary to reduced sunlight exposure and oral intake. Vitamin D-binding protein (VDBP) levels, however, fluctuate less with season and sunlight. The aim, therefore, was to examine patients with CD in remission and determine any associations between VDBP, serum 25(OH)D, and the calculated free 25(OH)D concentrations with the risk of disease flare. Subjects were identified from prospectively maintained inflammatory bowel disease databases at 3 teaching hospitals in Australia. Patients were in steroid-free clinical remission at the time of blood draw and were followed for at least 12 months. Total and epimer-25(OH)D3, VDBP concentrations, and genotypes were determined. A total of 309 patients with CD (46% men) met the inclusion criteria. A disease flare occurred in 100 (32.4%). Serum 25(OH)D3 was deficient (<50 nmol/L) in 36 (12%) and insufficient (50-75 nmol/L) in 107 (35%) patients. Total, free, and epimer-25(OH)D3 serum levels did not predict disease flare. Higher VDBP concentrations, however, significantly correlated with increased risk of disease flare (hazard ratio 1.2, 95% CI, 1.0-1.5). On multivariate analysis, VDBP concentration, low albumin, and medication-induced remission were significantly more associated with disease flare. VDBP genotypes were significantly associated with 25(OH)D and VDBP concentrations but not disease flare. Vitamin D deficiency was uncommon in our patients with CD in remission, and serum 25(OH)D3 did not predict disease flare, whereas higher VDBP concentrations were significantly associated with disease flare. Further investigations to explore the possible mechanisms for this association are warranted.

  1. Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.

    PubMed

    Pimentel, Márcia M G; Rodrigues, Fabíola C; Leite, Marco Antônio A; Campos Júnior, Mário; Rosso, Ana Lucia; Nicaretta, Denise H; Pereira, João S; Silva, Delson José; Della Coletta, Marcus V; Vasconcellos, Luiz Felipe R; Abreu, Gabriella M; Dos Santos, Jussara M; Santos-Rebouças, Cíntia B

    2015-06-01

    Amongst Parkinson's disease-causing genetic factors, missense mutations and genomic multiplications in the gene encoding α-synuclein are well established causes of the disease, although genetic data in populations with a high degree of admixture, such as the Brazilian one, are still scarce. In this study, we conducted a molecular screening of α-synuclein point mutations and copy number variation in the largest cohort of Brazilian patients with Parkinson's disease (n = 549) and also in twelve Portuguese and one Bolivian immigrants. Genomic DNA was isolated from peripheral blood leukocytes or saliva, and the mutational screening was performed by quantitative and qualitative real-time PCR. The only alteration identified was the p.E46K mutation in a 60-year-old man, born in Bolivia, with a familial history of autosomal dominant Parkinson's disease. This is the second family ever reported, in which this rare pathogenic mutation is segregating. The same mutation was firstly described ten years ago in a Spanish family with a neurodegenerative syndrome combining parkinsonism, dementia and visual hallucinations. The clinical condition of our proband reveals a less aggressive phenotype than previously described and reinforces that marked phenotypic heterogeneity is common among patients with Parkinson's disease, even among those carriers sharing the same mutation. Our findings add new insight into the preexisting information about α-synuclein p.E46K, improving our understanding about the endophenotypes associated to this mutation and corroborate that missense alterations and multiplications in α-synuclein are uncommon among Brazilian patients with Parkinson's disease. Copyright © 2015 Elsevier Ltd. All rights reserved.

  2. A child with hypertension and ambiguous genitalia - an uncommon variant of congenital adrenal hyperplasia: a case report.

    PubMed

    Pant, Vivek; Baral, Suman; Shrestha, Bishal; Tumbapo, Arjun

    2017-06-23

    Deficiency in 11β-hydroxylase as a cause of congenital adrenal hyperplasia is uncommon. It should be considered in the differential diagnosis of hypertension with virilization in any prepubescent child. A 12-year-old Asian boy from eastern Nepal presented with pain in his abdomen and hypertension. He was raised as a male but had absent testicles since birth and had precocious puberty. Plasma testosterone, follicle-stimulating hormone, and luteinizing hormone were below baseline level. Basal 17-hydroxyprogesterone was elevated. Magnetic resonance imaging of his pelvis showed presence of Müllerian structures and karyotyping revealed 46,XX genotype. A clinical diagnosis of 11β-hydroxylase deficiency was made in view of hypertension with severe virilization in a 46,XX individual. Our patient's legal guardian was unwilling for our patient to change gender and because our patient is underage, the condition was well explained to his parents. He was managed with steroids and antihypertensive drugs. He was on regular follow-up; after 2 years there was no hypertension but he developed true puberty with functional ovaries. He was prescribed leuprolide (gonadotropin-releasing hormone analogue), letrozole (aromatase inhibitor), and a continuation of antihypertensive drugs. This case highlights the importance of a thorough physical examination of the external genitalia at birth and appropriate referral, and addresses issues in the management of such a disorder. Ethical issues pertaining to consent and who is entitled to give it should be clear so that the affected individual will have optimal psychological development and quality of life.

  3. Epstein-Barr virus associated T-cell lymphoproliferative disease misdiagnosed as ulcerative colitis: a case report.

    PubMed

    Zheng, Xiaodan; Xie, Jianlan; Zhou, Xiaoge

    2015-01-01

    Epstein-Barr virus (EBV)-associated T-cell lymphoproliferative disease (LPD) is not uncommon in China, but gastrointestinal involvement is very rare. We report on an immunocompetent patient with EBV-associated T-cell LPD of the colon. The 26-year-old man was initially misdiagnosed with ulcerative colitis (UC). A colon biopsy revealed the presence of small to medium-sized lymphoid cells infiltrating the intestinal wall. The neoplastic cells expressed CD3, CD5, and granzyme B, not CD56. EBV-encoded small ribonucleic acid was detected in the tumor cells of the colon as well as the lymph node, and the T-cell receptor gene rearrangement result displayed δ gene monoclonal rearrangement. The patient died 2 moths after the diagnosis. The clinical course of EBV-associated T-cell LPD is aggressive and the prognosis is poor, the wrong diagnosis may delay treatment. Therefore, we should be very careful to prevent misdiagnosis. When patients have multiple intestinal ulcers that are not typical of UC and the clinical course is unusual, although morphology looks like inflammatory change, pathologist should consider the possibility of EBV-associated LPD. The treatment strategy and prognosis of these two diseases are different.

  4. Management options for cholestatic liver disease in children.

    PubMed

    Catzola, Andrea; Vajro, Pietro

    2017-11-01

    Due to a peculiar age-dependent increased susceptibility, neonatal cholestasis affects the liver of approximately 1 in every 2500 term infants. A high index of suspicion is the key to an early diagnosis, and to implement timely, often life-saving treatments. Even when specific treatment is not available or curative, prompt medical management and optimization of nutrition are of paramount importance to survival and avoidance of complications. Areas covered: The present article will prominently focus on a series of newer diagnostic and therapeutic options of cholestasis in neonates and infants blended with consolidated established paradigms. The overview of strategies for the management reported here is based on a systematic literature search published in English using accessible databases (PubMed, MEDLINE) with the keywords biliary atresia, choleretics and neonatal cholestasis. References lists from retrieved articles were also reviewed. Expert commentary: A large number of uncommon and rare hepatobiliary disorders may present with cholestasis during the neonatal and infantile period. Potentially life-saving disease-specific pharmacological and surgical therapeutic approaches are currently available. Advances in hepatobiliary transport mechanisms have started clarifying fundamental aspects of inherited and acquired cholestasis, laying the foundation for the development of possibly more effective specific therapies.

  5. Mastoiditis and facial paralysis as initial manifestations of temporal bone systemic diseases - the significance of the histopathological examination.

    PubMed

    Maniu, Alma Aurelia; Harabagiu, Oana; Damian, Laura Otilia; Ştefănescu, Eugen HoraŢiu; FănuŢă, Bogdan Marius; Cătană, Andreea; Mogoantă, Carmen Aurelia

    2016-01-01

    Several systemic diseases, including granulomatous and infectious processes, tumors, bone disorders, collagen-vascular and other autoimmune diseases may involve the middle ear and temporal bone. These diseases are difficult to diagnose when symptoms mimic acute otomastoiditis. The present report describes our experience with three such cases initially misdiagnosed. Their predominating symptoms were otological with mastoiditis, hearing loss, and subsequently facial nerve palsy. The cases were considered an emergency and the patients underwent tympanomastoidectomy, under the suspicion of otitis media with cholesteatoma, in order to remove a possible abscess and to decompress the facial nerve. The common features were the presence of severe granulation tissue filling the mastoid cavity and middle ear during surgery, without cholesteatoma. The definitive diagnoses was made by means of biopsy of the granulation tissue from the middle ear, revealing granulomatosis with polyangiitis (formerly known as Wegener's granulomatosis) in one case, middle ear tuberculosis and diffuse large B-cell lymphoma respectively. After specific associated therapy facial nerve functions improved, and atypical inflammatory states of the ear resolved. As a group, systemic diseases of the middle ear and temporal bone are uncommon, but aggressive lesions. After analyzing these cases and reviewing the literature, we would like to stress upon the importance of microscopic examination of the affected tissue, required for an accurate diagnosis and effective treatment.

  6. Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders.

    PubMed

    Lewis, J C; Tomkins, S; Sampson, J R

    2001-10-01

    To assess the process involved in obtaining ethical approval for a single-centre study involving geographically dispersed subjects with an uncommon genetic disorder. Observational data of the application process to 53 local research ethics committees (LRECs) throughout Wales, England and Scotland. The Multicentre Research Ethics Committee (MREC) for Wales had already granted approval. Application to the 53 LRECs required 24,552 sheets of paper and took two months of the researcher's time. The median time taken for approval was 39 days with only seven (13%) of committees responding within the recommended 21 days. In at least nineteen cases (36%) a subcommittee considered the application. Thirty-three committees (62%) accepted the proposal without amendments but, of the remainder, four (8%) requested changes outside of the remit of LRECs. Difficulties still exist with the system for obtaining ethical approval for studies involving a single centre but with patients at multiple sites, as is often required for genetic observational research. As such studies differ from true multicentre studies, it may be advantageous to develop a separate and specific process of application to ensure that resources are not unnecessarily expended in the quest for ethical approval.

  7. [Rhodococcus equi pneumonia in an HIV+ patient: An uncommon association].

    PubMed

    Esteves, Paula; Mineiro, Ana; Serrado, Margarida; Diniz, António

    2007-01-01

    The human infection by Rhodococcus equi, even in the presence of HIV infection, remains a rare disease. The authors present a case report of pneumonia, occurring in a HIV+ man. After identifying Pneumocystis jiroveci in the BAL, despite proper medication, the patient didn't improve. Another BAL was performed and a Rhodococcus equi isolated. The therapeutic regimen was changed according to this finding and the patient improved. The authors make a review of the literature, focusing on the rarity of this association and the high survival observed.

  8. An incidental enterocolic lymphocytic phlebitis pattern is seen commonly in the rectal stump of patients with diversion colitis superimposed on inflammatory bowel disease.

    PubMed

    Chetty, R; Hafezi, S; Montgomery, E

    2009-05-01

    Enterocolic lymphocytic phlebitis (ELP) is an uncommon cause of bowel pathology and most frequently results in ischaemia. It is characterised by an artery-sparing, venulocentric lymphoid infiltrate that causes a phlebitis and vascular compromise. Rare cases of ELP have been encountered with lymphocytic colitis in the absence of ischaemic bowel change. The present study examined the occurrence of ELP in the setting of diversion colitis and inflammatory bowel disease, as well as in random colectomy specimens. The study cohort comprised the following: 26 completion proctectomy specimens for ulcerative colitis with superimposed diversion colitis in the rectal stump; 3 colectomy specimens for Crohn disease with diversion colitis; 6 colectomy specimens for adenocarcinoma and/or diverticular disease with diversion colitis; 34 resection specimens with ulcerative colitis only; 19 with Crohn disease only; and 100 random colon resection specimens for adenocarcinoma, adenoma, diverticular disease and ischaemia. ELP was present in 18 of the 26 ulcerative colitis cases with diversion colitis, 3/3 Crohn disease cases with diversion colitis, 1/6 cases of diverticular disease with diversion colitis, 6/34 cases of ulcerative colitis without diversion, 2/19 Crohn disease cases without diversion colitis, and only 1 of 100 colectomy cases without inflammatory bowel disease or diversion colitis. ELP occurs most frequently in cases that have been diverted for inflammatory bowel disease. Fewer cases of ELP were noted in cases of inflammatory bowel disease in the absence of diversion colitis. It is postulated that altered bowel flora and immune dysregulation may be pivotal in the causation of this association.

  9. Case report: Emergency department diagnosis of melorheostosis in the upper extremity: a rare disease with an unusual presentation.

    PubMed

    Murano, Tiffany; Egarian, Michele

    2012-10-01

    Melorheostosis is a rare disease that affects fewer than 1:1,000,000 persons worldwide and most typically affects the lower extremities. It is a non-hereditary disease that may be debilitating due to chronic pain, contractures of the soft tissue, and even shortening of the affected limbs. Although it most commonly occurs in the lower extremities, melorheostosis has been reported in various locations throughout the body. This case report describes a patient who presented to the Emergency Department (ED) with this rare disease in an uncommonly affected bone. The patient was a 21-year-old man who presented to the ED with pain in his left upper extremity that he attributed to playing sports 3 days before presentation. Plain films revealed periosteal hyperostosis typical of melorheostosis in several of his carpals, metacarpals, and phalanges, as well as the humerus and ulna. The patient was discharged with orthopedic follow-up and pain medication. Melorheostosis is a rare disease that has characteristic radiographic findings likened to the appearance of melting wax flowing down the side of a candle. In certain cases, the disease can be debilitating and may require chronic pain management and even operative intervention. If this diagnosis is made in the ED, the emergency physician should provide adequate pain management and refer the patient to an orthopedic specialist for a work-up to rule out other sclerosing bone dysplasias. Copyright © 2012 Elsevier Inc. All rights reserved.

  10. Publication Bias in Kienbock's Disease: A Systematic Review

    PubMed Central

    Squitieri, Lee; Petruska, Elizabeth; Chung, Kevin C

    2015-01-01

    Purpose Kienbock's disease is considered a “rare disease” and currently affects less than 200,000 people in the U.S. Given the inherent challenges associated with researching rare diseases, the intense effort in hand surgery to treat this uncommon disorder may be susceptible to publication bias in which positive outcomes are preferentially published. The specific aim of this project is to conduct a systematic review of the literature with the hypothesis that publication bias is present for the treatment of Kienbock's disease. Methods We conducted a systematic review of all available abstracts associated with published manuscripts (English and non-English) and abstracts accepted to the 1992-2004 American Society for Surgery of the Hand (ASSH) annual meetings. Data collection included various study characteristics, direction of outcome (positive, neutral/negative), complication rates, mean follow-up time, time to publication, and length of patient enrollment. Results Our study included 175 (124 English, 51 non-English) published Kienbock's manuscripts and 14 Kienbock's abstracts from the 1992-2004 annual ASSH meetings. Abstracts from published manuscripts were associated with a 53% positive outcome rate, which is lower than the 74% positive outcome rate found among other surgical disorders. Over the past 40 years, studies have become more positive (36% to 68%, p = 0.007) and are more likely to incorporate statistical analysis testing (0% to 55%, p <0.001). Of the 14 abstracts accepted to ASSH, 11 (79%) were published in peer-reviewed journals. Ten of the 14 accepted abstracts (71%) were considered positive, and there was no significant difference in publication rate between studies with positive (n = 10) and non-positive (n = 4) outcomes (p = 1.000). Conclusions The acceptance rate for negative outcomes studies regarding Kienbock's disease is higher than for other surgical disorders. This may indicate a relative decrease in positive outcome bias among published

  11. Benign Breast Disease, Mammographic Breast Density, and the Risk of Breast Cancer

    PubMed Central

    2013-01-01

    Background Benign breast disease and high breast density are prevalent, strong risk factors for breast cancer. Women with both risk factors may be at very high risk. Methods We included 42818 women participating in the Breast Cancer Surveillance Consortium who had no prior diagnosis of breast cancer and had undergone at least one benign breast biopsy and mammogram; 1359 women developed incident breast cancer in 6.1 years of follow-up (78.1% invasive, 21.9% ductal carcinoma in situ). We calculated hazard ratios (HRs) using Cox regression analysis. The referent group was women with nonproliferative changes and average density. All P values are two-sided. Results Benign breast disease and breast density were independently associated with breast cancer. The combination of atypical hyperplasia and very high density was uncommon (0.6% of biopsies) but was associated with the highest risk for breast cancer (HR = 5.34; 95% confidence interval [CI] = 3.52 to 8.09, P < .001). Proliferative disease without atypia (25.6% of biopsies) was associated with elevated risk that varied little across levels of density: average (HR = 1.37; 95% CI = 1.11 to 1.69, P = .003), high (HR = 2.02; 95% CI = 1.68 to 2.44, P < .001), or very high (HR = 2.05; 95% CI = 1.54 to 2.72, P < .001). Low breast density (4.5% of biopsies) was associated with low risk (HRs <1) for all benign pathology diagnoses. Conclusions Women with high breast density and proliferative benign breast disease are at very high risk for future breast cancer. Women with low breast density are at low risk, regardless of their benign pathologic diagnosis. PMID:23744877

  12. Benign breast disease, mammographic breast density, and the risk of breast cancer.

    PubMed

    Tice, Jeffrey A; O'Meara, Ellen S; Weaver, Donald L; Vachon, Celine; Ballard-Barbash, Rachel; Kerlikowske, Karla

    2013-07-17

    Benign breast disease and high breast density are prevalent, strong risk factors for breast cancer. Women with both risk factors may be at very high risk. We included 42818 women participating in the Breast Cancer Surveillance Consortium who had no prior diagnosis of breast cancer and had undergone at least one benign breast biopsy and mammogram; 1359 women developed incident breast cancer in 6.1 years of follow-up (78.1% invasive, 21.9% ductal carcinoma in situ). We calculated hazard ratios (HRs) using Cox regression analysis. The referent group was women with nonproliferative changes and average density. All P values are two-sided. Benign breast disease and breast density were independently associated with breast cancer. The combination of atypical hyperplasia and very high density was uncommon (0.6% of biopsies) but was associated with the highest risk for breast cancer (HR = 5.34; 95% confidence interval [CI] = 3.52 to 8.09, P < .001). Proliferative disease without atypia (25.6% of biopsies) was associated with elevated risk that varied little across levels of density: average (HR = 1.37; 95% CI = 1.11 to 1.69, P = .003), high (HR = 2.02; 95% CI = 1.68 to 2.44, P < .001), or very high (HR = 2.05; 95% CI = 1.54 to 2.72, P < .001). Low breast density (4.5% of biopsies) was associated with low risk (HRs <1) for all benign pathology diagnoses. Women with high breast density and proliferative benign breast disease are at very high risk for future breast cancer. Women with low breast density are at low risk, regardless of their benign pathologic diagnosis.

  13. The New Genomics: What Molecular Databases Can Tell Us About Human Population Variation and Endocrine Disease.

    PubMed

    Rotwein, Peter

    2017-07-01

    Major recent advances in genetics and genomics present unique opportunities for enhancing our understanding of human physiology and disease predisposition. Here I demonstrate how analysis of genomic information can provide new insights into endocrine systems, using the human growth hormone (GH) signaling pathway as an illustrative example. GH is essential for normal postnatal growth in children, and plays important roles in other biological processes throughout life. GH actions are mediated by the GH receptor, primarily via the JAK2 protein tyrosine kinase and the STAT5B transcription factor, and inactivating mutations in this pathway all lead to impaired somatic growth. Variation in GH signaling genes has been evaluated using DNA sequence data from the Exome Aggregation Consortium, a compendium of information from >60,000 individuals. Results reveal many potential missense and other alterations in the coding regions of GH1, GHR, JAK2, and STAT5B, with most changes being uncommon. The total number of different alleles per gene varied by ~threefold, from 101 for GH1 to 338 for JAK2. Several known disease-linked mutations in GH1, GHR, and JAK2 were present but infrequent in the population; however, three amino acid changes in GHR were sufficiently prevalent (~4% to 44% of chromosomes) to suggest that they are not disease causing. Collectively, these data provide new opportunities to understand how genetically driven variability in GH signaling and action may modify human physiology and disease. Copyright © 2017 Endocrine Society.

  14. Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers.

    PubMed

    Morel, T; Aymé, S; Cassiman, D; Simoens, S; Morgan, M; Vandebroek, M

    2016-05-26

    Rare disease patients and caregivers face uncommon, serious, debilitating conditions often characterised by poor prognosis and limited treatment options. This study aimed to explore what they consider of value when choosing between hypothetical therapeutic options and to quantify both their benefit-risk preferences and the influence of disease context. A mixed-methods survey with patients and caregivers was conducted in the United Kingdom across a range of rare diseases. Discrete-choice experiments that compared hypothetical treatment profiles of benefits and risks were used to measure respondent preferences across a set of seven attributes related to health outcomes, safety, and process of care. Bespoke questions on current disease management and the joint use of the 12-item WHODAS 2.0 questionnaire and of two Likert scales capturing self- and proxy-assessed disease-induced threat to life and impairment were implemented to describe disease context. Additionally, qualitative insights on the definitions of value and risk were collected from respondents. Final study sample included 721 patients and 152 informal caregivers, across 52 rare diseases. When choosing between hypothetical novel treatments for rare diseases, respondents attributed most importance to drug response, risk of serious side effects, and the ability to conduct usual activities while on treatment. In contrast, attributes related to treatment modalities were the least important. Respondents expressed a willingness to accept risks in hopes of finding some benefit, such as a higher chance of drug response or greater health improvement potential. Increasing disease severity, impairment or disability, and the lack of effective therapeutic options were shown to raise significantly the willingness to gain benefit through increased risk. This is the first study performing a quantitative discrete choice experiment amongst patients and caregivers across 52 rare conditions. It enables a more detailed

  15. Toward energy literacy: the uncommon accomplishments of an uncommon team

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Schneiter, P.H.

    In an effort to meet the energy challenge, Energy and Man's Environment (EME) involves business and educational communities in teaching the nation about energy. Reaching almost 18,000 educators with its programs last year, EME followed conferences with implementation programs, providing materials and hands-on experiences. Some EME programs are for college credit. 1 table.

  16. Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorders.

    PubMed

    Park, Sanghui; Ko, Young H

    2014-01-01

    Primary infection with Epstein-Barr virus (EBV) is usually asymptomatic and, in a normal host, EBV remains latent in B cells after primary infection for the remainder of life. Uncommonly, EBV can infect T or natural killer (NK) cells in a person with a defect in innate immunity, and EBV infection can cause unique systemic lymphoproliferative diseases (LPD) of childhood. Primary infection in young children can be complicated by hemophagocytic lymphohistiocytosis or fulminant systemic T-cell LPD of childhood. Uncommonly, patients can develop chronic active EBV (CAEBV) disease-type T/NK LPD, which includes CAEBV infection of the systemic form, hydroa vacciniforme-like T-cell LPD, and mosquito-bite hypersensitivity. The clinical course of CAEBV disease-type T/NK LPD can be smoldering, persistent or progressive, depending on the balance between viral factors and host immunity. Aggressive NK-cell leukemia, hydroa vacciniforme-like T-cell lymphoma, or uncommonly extranodal NK/T-cell lymphoma can develop in children and young adults with CAEBV disease-type T/NK-cell LPD. Extranodal T/NK-cell lymphoma is a disease of adults, and its incidence begins to increase in the third decade and comprises the major subtype of T/NK LPD throughout life. Aggressive NK-cell leukemia and nodal T/NK-cell lymphoma of the elderly are fulminant diseases, and immune senescence may be an important pathogenetic factor. This review describes the current progress in identifying different types of EBV-associated T/NK-cell LPD and includes a brief presentation of data from Korea. © 2014 Japanese Dermatological Association.

  17. Spontaneous pneumothorax in diffuse cystic lung diseases.

    PubMed

    Cooley, Joseph; Lee, Yun Chor Gary; Gupta, Nishant

    2017-07-01

    Diffuse cystic lung diseases (DCLDs) are a heterogeneous group of disorders with varying pathophysiologic mechanisms that are characterized by the presence of air-filled lung cysts. These cysts are prone to rupture, leading to the development of recurrent spontaneous pneumothoraces. In this article, we review the epidemiology, clinical features, and management DCLD-associated spontaneous pneumothorax, with a focus on lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, and pulmonary Langerhans cell histiocytosis. DCLDs are responsible for approximately 10% of apparent primary spontaneous pneumothoraces. Computed tomography screening for DCLDs (Birt-Hogg-Dubé syndrome, lymphangioleiomyomatosis, and pulmonary Langerhans cell histiocytosis) following the first spontaneous pneumothorax has recently been shown to be cost-effective and can help facilitate early diagnosis of the underlying disorders. Patients with DCLD-associated spontaneous pneumothorax have a very high rate of recurrence, and thus pleurodesis should be considered following the first episode of spontaneous pneumothorax in these patients, rather than waiting for a recurrent episode. Prior pleurodesis is not a contraindication to future lung transplant. Although DCLDs are uncommon, spontaneous pneumothorax is often the sentinel event that provides an opportunity for diagnosis. By understanding the burden and implications of pneumothoraces in DCLDs, clinicians can facilitate early diagnosis and appropriate management of the underlying disorders.

  18. Spectrum of Celiac disease in Paediatric population: Experience of Tertiary Care Center from Pakistan.

    PubMed

    Aziz, Danish Abdul; Kahlid, Misha; Memon, Fozia; Sadiq, Kamran

    2017-01-01

    To determine clinical features and relevant laboratory investigations of patient with celiac disease (CD) and comparing classical celiac disease (CCD) with Non-diarrheal celiac disease (NDCD). This is a five years retrospective study conducted at The Aga Khan University Hospital Karachi, Pakistan from January 2010 to December 2015, enrolling children from one year to 15 years of either gender diagnosed as celiac disease in accordance with revised ESPGHAN criteria. Biopsy samples with grade 2 or more on Modified Marsh Classification were considered as consistent with celiac disease. Celiac patients were categorized into Classical celiac disease (with Chronic Diarrhea) and non-diarrheal celiac disease (Atypical celiac) and their clinical features and relevant laboratory investigations were documented. Total 66 patients were selected with celiac disease according to inclusion criteria, 39 (59.09%) patients were labeled as CCD and 27 (40.91%) patients were labeled as NDCD. Marsh grading 3a and above were more marked in CCD as compared to NDCD. Mean titer for Tissue transglutaminase antibodies (TTG) were higher in CCD group in comparison to NDCD group. In CCD, the most common clinical presentations were abdominal distension whereas in NDCD, the most remarkable features were recurrent abdominal pain (62.9%). Frequency of failure to thrive is significantly high in CCD (82.05%) but patients merely with short stature were more common in NDCD (33.3%). Refractory anemia was present in 66.6% patients in NDCD group and 41.1% patients in CCD group. 74.3% patients in CCD group were vitamin D deficient whereas 85% patient had vitamin D deficiency in NDCD group (p= 0.03). NDCD is not uncommon in our population. Recurrent abdominal pain, failure to thrive or patients only with short stature and refractory anemia are prominent features in NCDC group whereas abdominal distension, failure to thrive and recurrent abdominal pain were noticeable features in CCD. High grade histopathology

  19. Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs.

    PubMed

    Lees, George E

    2013-01-01

    To review the pathogenesis, as well as the clinical and pathologic features of canine glomerular diseases caused by genetic type IV collagen defects. Original studies and review articles from human and veterinary medical fields. Presence in glomerular basement membranes (GBM) of a network composed of α3.α4.α5 heterotrimers of type IV collagen is required to maintain structure and function of glomerular capillary walls. Hereditary nephropathy (HN) is the most commonly used name for kidney diseases that occur in dogs due to genetic type IV collagen abnormalities. To date, 4 different collagen IV gene mutations have been identified in dogs with HN; 2 are COL4A5 mutations that cause X-linked HN (XL-HN), and 2 are COL4A4 mutations that cause autosomal recessive HN (AR-HN). Affected males with XL-HN and affected males and females with AR-HN develop juvenile-onset kidney disease manifested by proteinuria typically starting at 3-6 months of age and followed by progressive kidney disease leading to terminal failure usually at 6-24 months of age. Carrier female dogs with XL-HN also develop proteinuria starting at 3-6 months of age, but progressive disease causing kidney failure is uncommon until they are >5 years old. The distinctive pathologic lesions of HN are extensive multilaminar splitting and thickening of the GBM, as demonstrated by electron microscopy, and abnormal type IV collagen α-chain content of basement membranes, as demonstrated by immunolabeling. Identification of the underlying gene mutations has permitted genetic testing and selective breeding practices that currently are minimizing HN in breeds known to be at risk. Canine HN is a rare disease that should be considered whenever a dog exhibits a juvenile-onset kidney disease characterized partly by proteinuria, but highly specialized methods are required to pursue a definitive diagnosis. © Veterinary Emergency and Critical Care Society 2013.

  20. Cemento-ossifying fibroma in a patient with end-stage renal disease.

    PubMed

    Gopinath, Divya; Beena, V T; Sugirtharaj, G; Vidhyadharan, K; Salmanul Faris, K; Kumar, Sajai J

    2013-01-01

    The presence of chronic renal disease (CRD) is a predisposing factor for the occurrence of soft and hard tissue lesions in the oral cavity. The cemento-ossifying fibroma (COF) is an uncommon benign fibroosseous lesion composed of fibrocellular component and calcified materials like cementum and woven bone. A 37-year-old female patient undergoing chronic haemodialysis reported to our institution with a complaint of slow growing, nontender swelling of mandible of 6-month duration. Computed tomography disclosed an ill-defined lesion showing thinning and expansion of buccal as well as lingual cortical plate with flecks of radiopacity in centre. Incision biopsy revealed histological characteristics consistent with cemento-ossifying fibroma. The lesion was excised under local anesthesia. The histopathological examination revealed irregularly shaped bone and cementum-like hard tissue calcifications contained within hypercellular fibrous tissue stroma, leading to a confirmation of the diagnosis of cemento-ossifying fibroma. This paper aims to provide light to the fact that the soft and hard tissues of the oral region may become susceptible to the development of pathological growths in case of some particular systemic conditions.

  1. Cemento-Ossifying Fibroma in a Patient with End-Stage Renal Disease

    PubMed Central

    Gopinath, Divya; Beena, V. T.; Sugirtharaj, G.; Vidhyadharan, K.; Salmanul Faris, K.; Kumar, Sajai J.

    2013-01-01

    The presence of chronic renal disease (CRD) is a predisposing factor for the occurrence of soft and hard tissue lesions in the oral cavity. The cemento-ossifying fibroma (COF) is an uncommon benign fibroosseous lesion composed of fibrocellular component and calcified materials like cementum and woven bone. A 37-year-old female patient undergoing chronic haemodialysis reported to our institution with a complaint of slow growing, nontender swelling of mandible of 6-month duration. Computed tomography disclosed an ill-defined lesion showing thinning and expansion of buccal as well as lingual cortical plate with flecks of radiopacity in centre. Incision biopsy revealed histological characteristics consistent with cemento-ossifying fibroma. The lesion was excised under local anesthesia. The histopathological examination revealed irregularly shaped bone and cementum-like hard tissue calcifications contained within hypercellular fibrous tissue stroma, leading to a confirmation of the diagnosis of cemento-ossifying fibroma. This paper aims to provide light to the fact that the soft and hard tissues of the oral region may become susceptible to the development of pathological growths in case of some particular systemic conditions. PMID:23819070

  2. Do I Need a Tetanus Shot?

    MedlinePlus

    ... nail or a puncture wound could cause a tetanus infection, a bacterial disease that affects the nervous system and is often ... that break the skin. "Your best defense against tetanus is vaccination," said ... has made this disease uncommon in the United States, too many people, ...

  3. Hepatic sarcoidosis in patients presenting with liver dysfunction: imaging appearance, pathological correlation and disease evolution.

    PubMed

    Fetzer, David T; Rees, Mitchell A; Dasyam, Anil K; Tublin, Mitchell E

    2016-09-01

    We hypothesize that hepatic sarcoidosis is a dynamic process that can lead to cirrhosis and portal hypertension, independent of the course of thoracic disease. Therefore, we assess the imaging appearance and progression of hepatic sarcoidosis in subjects presenting with hepatic dysfunction. An IRB-approved, HIPAA-compliant, single-institution retrospective review identified 39 subjects with sarcoidosis-related liver dysfunction. Clinical information was collected. Two abdominal radiologists analyzed baseline and follow-up imaging studies, scoring features of cirrhosis. Chest CT was also analyzed. At presentation, 23 subjects (59.0 %) exhibited >3 cirrhotic features and 15 (38.5 %) >2 findings of portal hypertension. Of subjects with available follow-up, 57.9 % (19 subjects; mean interval 4.7 years) showed worsening of >3 cirrhotic features (Pearson rho = 0.58; p = 0.009). Parenchymal nodules were uncommon (25.6 %), and most regressed. Although 87.2 % of subjects were diagnosed with thoracic sarcoidosis, there was poor correlation between severity of hepatic and chest disease (Pearson rho = 0.30; p = 0.119). A mean of 7.2 years elapsed between diagnosis of pulmonary and liver involvement. Sarcoidosis may present as liver dysfunction, cirrhosis or portal hypertension. Sarcoid-related liver disease may progress and can manifest without, alongside or significantly after a diagnosis of pulmonary disease. • Patients often present with elevated liver function tests indicating cholestasis. • Patients may present with portal hypertension, and some progress to cirrhosis. • Though biopsy can be considered for focal liver lesions, most will regress. • Extent of intra-abdominal involvement may not correlate with severity of thoracic disease. • Liver disease may manifest alongside, prior to or significantly after initial diagnosis.

  4. An Italian multicentre study on adult atopic dermatitis: persistent versus adult-onset disease.

    PubMed

    Megna, Matteo; Patruno, Cataldo; Balato, Anna; Rongioletti, Franco; Stingeni, Luca; Balato, Nicola

    2017-08-01

    Atopic dermatitis (AD) is a chronic, recurrent, inflammatory skin disease which predominantly affects children. However, AD may persist until adulthood (persistent AD), or directly start in adults (adult-onset AD). AD often shows a non-flexural rash distribution, and atypical morphologic variants in adults and specific diagnostic criteria are lacking. Moreover, adult AD prevalence as well as detailed data which can characterize persistent vs adult-onset subtype are scant. The aim of this study was to investigate on the main features of adult AD particularly highlighting differences between persistent vs adult-onset form. An Italian multicentre observational study was conducted between April 2015-July 2016 through a study-specific digital database. 253 adult AD patients were enrolled. Familiar history of AD was negative in 81.0%. Erythemato-desquamative pattern was the most frequent clinical presentation (74.3%). Flexural surface of upper limbs was most commonly involved (47.8%), followed by eyelid/periocular area (37.9%), hands (37.2%), and neck (32%). Hypertension (7.1%) and thyroiditis (4.3%) were the most frequent comorbidities. A subgroup analysis between persistent (59.7%) vs adult-onset AD patients (40.3%) showed significant results only regarding AD severity (severe disease was more common in persistent group, p < 0.05), itch intensity (higher in adult-onset disease), and comorbidities (hypertension was more frequent in adult-onset group, p < 0.01). Adult AD showed uncommon features such as significant association with negative AD family history and lacking of association with systemic comorbidities respect to general population. No significant differences among persistent vs adult-onset subgroup were registered except for hypertension, itch intensity, and disease severity.

  5. Clinicopathological review of immunohistochemically defined Kikuchi-Fujimoto disease-including some interesting cases.

    PubMed

    Seong, Gil Myeong; Kim, Jo-Heon; Lim, Gil Chai; Kim, Jinseok

    2012-10-01

    Kikuchi-Fujimoto Disease (KFD) is a benign, self-limited disease characterized by tender regional lymphadenopathy with fever. KFD remains a poorly defined disease, and no clear diagnostic criteria are available. Here, we assess the clinical, laboratory, and histopathologic findings of KFD cases and report two unusual cases. Forty KFD patients that underwent lymph node (LN) biopsy and diagnosed by immunohistochemical staining, from January 2003 to November 2010, were enrolled in this retrospective study. The patients had a mean age of 29.3 years, and 29 (72.5 %) were women. Affected LNs were mainly located unilaterally in the cervical area. Mean LN size was 15.3 mm. Twenty-eight (70 %) patients had LN tenderness, and 25 (62.5 %) patients had fever. Leukopenia was observed in 18 of 35 evaluable patients. C-reactive protein and erythrocyte sedimentation rate were elevated in most patients. Anti-nuclear antibody was positive in four of 19 evaluable patients, but all had been diagnosed with concurrent systemic lupus erythematosus. Histologically, the 40 cases were classified into three types, that is, as proliferative (37.5 %), necrotizing (55.0 %), or xanthomatous (7.5 %). Interesting cases: Case 1 was a 35-year-old female with KFD and uveitis, retinal vasculitis, and superior sagittal sinus thrombosis. Case 2 was a 47-year-old male with KFD and bone marrow involvement and presented with severe bicytopenia. Although KFD is an uncommon self-limited benign disorder, it must be included in the differential diagnosis of lymphadenopathy with fever and cytopenia. It is important that the clinical features of KFD be understood to reach a correct diagnosis.

  6. Acute neonatal suppurative parotitis: a case report and review of the literature.

    PubMed

    Özdemir, Halil; Karbuz, Adem; Ciftçi, Ergin; Fitöz, Suat; Ince, Erdal; Doğru, Ulker

    2011-07-01

    Neonatal suppurative parotitis (NSP) is an uncommon disease. Information about the etiopathogenesis and management of the disease is very limited. Here, we describe a newborn who developed NSP due to Pseudomonas aeruginosa and who was treated successfully with antibiotics. Copyright © 2011 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  7. [Scapulo-thoracic mycetoma. A rare localization, a particular form].

    PubMed

    Sy, M H; Diouf, S; Ndiaye, A; Dansokho, A V; Ndiaye, P D; Diop, C A; Sèye, S I

    1998-07-01

    An uncommon form and a rare localization of mycetoma is reported. The aim of this report was to distinguish this inhabitual form of mycetoma from some tropical diseases like onchocerca and other fungal diseases. A 55 year old man was admitted 10 years after a septic worm-hole for a scapulo-thoracic tumor. This encapsulated mass was a bending and rounded polyfistular one attached to the dorsal aspect of left shoulder. The fistula discharge a serosanguineous or purulent exudate. The characteristic red granule was not visible. The tumor was removed and histological examination was performed. A typical granuloma of red granule of streptomyces pelletieri was found. A good result was obtained with associated cotrimoxazole treatment. Scapulo-thoracic form included: scapular, axillary and chest form of mycetoma. All these localizations are rare. One of them can be complicated by osteitis or pleuro-pulmonary localization. Streptomyces pellitieri is the actinomycetic causal agent. This encapsulated form is uncommon. Scapulo-thoracic mycetoma is rare. Encapsulated and pedicular form is uncommon. Around Sahel areas, differential diagnosis must be evoked such as parasitic and mycobacterial infections.

  8. The coeliac stomach: gastritis in patients with coeliac disease.

    PubMed

    Lebwohl, B; Green, P H R; Genta, R M

    2015-07-01

    Lymphocytic gastritis (LG) is an uncommon entity with varying symptoms and endoscopic appearances. This condition, as well as two forms of H. pylori-negative gastritis [chronic active gastritis (CAG) and chronic inactive gastritis (CIG)], appears to be more common in patients with coeliac disease (CD) based on single-centred studies. To compare the prevalence of LG, CAG and CIG among those with normal duodenal histology (or nonspecific duodenitis) and those with CD, as defined by villous atrophy (Marsh 3). We analysed all concurrent gastric and duodenal biopsy specimens submitted to a national pathology laboratory during a 6-year period. We performed multiple logistic regression to identify independent predictors of each gastritis subtype. Among patients who underwent concurrent gastric and duodenal biopsy (n = 287,503), the mean age was 52 and the majority (67%) were female. Compared to patients with normal duodenal histology, LG was more common in partial villous atrophy (OR: 37.66; 95% CI: 30.16-47.03), and subtotal/total villous atrophy (OR: 78.57; 95% CI: 65.37-94.44). CD was also more common in CAG (OR for partial villous atrophy 1.93; 95% CI: 1.49-2.51, OR for subtotal/total villous atrophy 2.42; 95% CI: 1.90-3.09) and was similarly associated with CIG (OR for partial villous atrophy 2.04; 95% CI: 1.76-2.35, OR for subtotal/total villous atrophy 2.96; 95% CI: 2.60-3.38). Lymphocytic gastritis is strongly associated with coeliac disease, with increasing prevalence correlating with more advanced villous atrophy. Chronic active gastritis and chronic inactive gastritis are also significantly associated with coeliac disease. Future research should measure the natural history of these conditions after treatment with a gluten-free diet. © 2015 John Wiley & Sons Ltd.

  9. Thyroid Diseases and Adverse Pregnancy Outcomes in a Contemporary US Cohort

    PubMed Central

    Männistö, Tuija; Grewal, Jagteshwar; Xie, Yunlong; Chen, Zhen; Laughon, S. Katherine

    2013-01-01

    Context: Thyroid diseases are inconsistently reported to increase risk for pregnancy complications. Objective: The objective of this study was to study pregnancy complications associated with common and uncommon thyroid diseases. Design, Setting, and Participants: We analyzed singleton pregnancies (N = 223 512) from a retrospective US cohort, the Consortium on Safe Labor (2002–2008). Thyroid diseases and outcomes were derived from electronic medical records. Multivariable logistic regression with generalized estimating equations estimated adjusted odds ratios (ORs) with 99% confidence intervals (99% CI). Main Outcome Measures: Hypertensive diseases, diabetes, preterm birth, cesarean sections, inductions, and intensive care unit (ICU) admissions were analyzed. Results: Primary hypothyroidism was associated with increased odds of preeclampsia (OR = 1.47, 99% CI = 1.20–1.81), superimposed preeclampsia (OR = 2.25, 99% CI = 1.53–3.29), gestational diabetes (OR = 1.57, 99% CI = 1.33–1.86), preterm birth (OR = 1.34, 99% CI = 1.17–1.53), induction (OR = 1.15, 99% CI = 1.04–1.28), cesarean section (prelabor, OR = 1.31, 99% CI = 1.11–1.54; after spontaneous labor OR = 1.38, 99% CI = 1.14–1.66), and ICU admission (OR = 2.08, 99% CI = 1.04–4.15). Iatrogenic hypothyroidism was associated with increased odds of placental abruption (OR = 2.89, 99% CI = 1.14–7.36), breech presentation (OR = 2.09, 99% CI = 1.07–4.07), and cesarean section after spontaneous labor (OR = 2.05, 99% CI = 1.01–4.16). Hyperthyroidism was associated with increased odds of preeclampsia (OR = 1.78, 99% CI = 1.08–2.94), superimposed preeclampsia (OR = 3.64, 99% CI = 1.82–7.29), preterm birth (OR = 1.81, 99% CI = 1.32–2.49), induction (OR = 1.40, 99% CI = 1.06–1.86), and ICU admission (OR = 3.70, 99% CI = 1.16–11.80). Conclusions: Thyroid diseases were associated with obstetrical, labor, and delivery complications. Although we lacked information on treatment during pregnancy

  10. Cutaneous lumbosacral Herpes simplex virus among patients hospitalized for an advanced disease.

    PubMed

    Toutous-Trellu, L; Vantieghem, K M; Terumalai, K; Herrmann, F R; Piguet, V; Kaiser, L; Vuagnat, H; Zulian, G

    2012-04-01

    Cutaneous Herpes simplex virus (HSV) infections are regularly observed in lumbosacral areas, and many are refractory to appropriate initial diagnosis and management. We aimed to evaluate the incidence of lumbosacral HSV among advanced disease patients, to estimate their survival index from HSV onset, and to describe their clinical and virological characteristics. A prospective, descriptive study was conducted in a palliative and continuous care centre, collecting patients with suspected cutaneous HSV lesions in the lumbosacral area. From 2008 to 2010, 24 patients were included: 19 had HSV-2 confirmed by at least one laboratory test. Incidence of HSV-2 was 2.67% (1.73-4.33%, 95% CI). No age, gender or survival differences were observed compared to the global population in the centre. Most lesions were detected early as vesicles (14/24) or small ulcers. Sensitivity was good for all diagnostic methods (62.5% for immunofluorescence and 79.2% for culture and/or PCR). Outcome was favourable under classical antiherpetic drugs and topical antiseptic dressing. Cutaneous lumbosacral HSV remains uncommon in patients hospitalized with advanced diseases. Most of these patients suffer from pressure ulcers or other dermatitis; we advocate increased attention of this diagnosis to avoid skin complications and added pain. © 2011 The Authors. Journal of the European Academy of Dermatology and Venereology © 2011 European Academy of Dermatology and Venereology.

  11. Commentary: Launch of a quality improvement network for evidence-based management of uncommon pediatric endocrine disorders: Turner syndrome as a prototype.

    PubMed

    Rosenfield, Robert L; DiMeglio, Linda A; Mauras, Nelly; Ross, Judith; Shaw, Natalie D; Greeley, Siri A W; Haymond, Morey; Rubin, Karen; Rhodes, Erinn T

    2015-04-01

    Traditional, hypothesis-oriented research approaches have thus far failed to generate sufficient evidence to achieve consensus about the management of children with many endocrine disorders, partly because of the rarity of these disorders and because of regulatory burdens unique to research in children. The Pediatric Endocrine Society is launching a quality improvement network in spring 2015 for the management of pediatric endocrine disorders that are relatively uncommon in any single practice and/or for which there is no consensus on management. The first of the quality improvement programs to be implemented seeks to improve the care of 11- to 17-year-old girls with Turner syndrome who require initiation of estrogen replacement therapy by providing a standardized clinical assessment and management plan (SCAMP) for transdermal estradiol treatment to induce pubertal development. The SCAMP algorithm represents a starting point within current best practice that is meant to undergo refinement through an iterative process of analysis of deidentified data collected in the course of clinical care by a network of pediatric endocrinologists. It is anticipated that this program will not only improve care, but will also result in actionable data that will generate new research hypotheses and changes in management of pediatric endocrine disorders.

  12. Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders

    PubMed Central

    Lewis, J C; Tomkins, S; Sampson, J R

    2001-01-01

    Objectives—To assess the process involved in obtaining ethical approval for a single-centre study involving geographically dispersed subjects with an uncommon genetic disorder. Design—Observational data of the application process to 53 local research ethics committees (LRECs) throughout Wales, England and Scotland. The Multicentre Research Ethics Committee (MREC) for Wales had already granted approval. Results—Application to the 53 LRECs required 24,552 sheets of paper and took two months of the researcher's time. The median time taken for approval was 39 days with only seven (13%) of committees responding within the recommended 21 days. In at least nineteen cases (36%) a subcommittee considered the application. Thirty-three committees (62%) accepted the proposal without amendments but, of the remainder, four (8%) requested changes outside of the remit of LRECs. Discussion—Difficulties still exist with the system for obtaining ethical approval for studies involving a single centre but with patients at multiple sites, as is often required for genetic observational research. As such studies differ from true multicentre studies, it may be advantageous to develop a separate and specific process of application to ensure that resources are not unnecessarily expended in the quest for ethical approval. Key Words: Research ethics • MREC • LREC PMID:11579194

  13. Surgical management of sentinel lymph node biopsy outside major nodal basin in patients with cutaneous melanoma.

    PubMed

    Caracò, Corrado; Marone, Ugo; Di Monta, Gianluca; Aloj, Luigi; Caracò, Corradina; Anniciello, Annamaria; Lastoria, Secondo; Botti, Gerardo; Mozzillo, Nicola

    2014-01-01

    To assess the incidence of nonmajor lymphatic basin sentinel nodes in patients with cutaneous melanoma in order to propose a correct nomenclature and inform appropriate surgical management. This was a retrospective review of 1,045 consecutive patients with cutaneous melanoma who underwent sentinel lymph node biopsy and dynamic lymphoscintigraphy to identify sentinel node site. Nonmajor drainage sites were classified as uncommon (located in a minor lymphatic basin along the lymphatic drainage to a major classical nodal basin) or interval (located anywhere along the lymphatics between the primary tumor site and the nearest lymphatic basin) sentinel nodes. Nonclassical sentinel nodes were identified in 32 patients (3.0 %). Uncommon sentinel nodes were identified in 3.2 % (n = 17) of trunk melanoma primary disease and in 1.5 % (n = 7) of upper and lower extremity sites. Interval sentinel nodes were identified in 1.3 % (n = 7) of trunk primary lesions, with none from upper and lower extremities melanomas. The incidence of tumor-positive sentinel nodes was 24.1 % (245 of 1,013) in classical sites and 12.5 % (4 of 32) in uncommon/interval sites. The definition of uncommon and interval sentinel nodes allows the identification of different lymphatic pathways and inform appropriate surgical treatment. Wider experience with uncommon/interval sentinel nodes will better clarify the clinical implications and surgical management to be adopted in the management of uncommon and interval sentinel node sites.

  14. A case of transient lymphangiectasis of the penis.

    PubMed

    Misson, A; Deswysen, A C; Tennstedt, D; Muschart, X

    2014-08-01

    Physicians are likely to encounter patients with penis disorders and can be caught off guard by these uncommon pathologies, especially because they occur in a sensitive anatomical location. Here, we report the case of a patient presenting with benign transient lymphangiectasis of the penis (BTLP), including its differential diagnosis and treatment. Conclusion headings: BTLP is not an uncommon pathology and diagnosis is based only on medical history and clinical examination. The differentiation between Mondor's disease and BTLP is not necessary for treatment.

  15. Recovery of adrenal function in a patient with confirmed Addison's disease

    PubMed Central

    Baxter, M; Gorick, S; Swords, F M

    2013-01-01

    Summary Addison's disease is a condition characterised by immune-mediated destruction of the adrenal glands leading to a requirement of lifelong replacement therapy with mineralocorticoid and glucocorticoid. We present a case of a 53-year-old man who presented at the age of 37 years with nausea, fatigue and dizziness. He was found to have postural hypotension and buccal pigmentation. His presenting cortisol level was 43 nmol/l with no response to Synacthen testing. He made an excellent response to conventional replacement therapy with hydrocortisone and fludrocortisone and then remained well for 16 years. On registering with a new endocrinologist, his hydrocortisone dose was revised downwards and pre- and post-dose serum cortisol levels were assessed. His pre-dose cortisol was surprisingly elevated, and so his dose was further reduced. Subsequent Synacthen testing was normal and has remained so for further 12 months. He is now asymptomatic without glucocorticoid therapy, although he continues on fludrocortisone 50 μg daily. His adrenal antibodies are positive, although his ACTH and renin levels remain elevated after treatment. Addison's disease is generally deemed to lead to irreversible cell-mediated immune destruction of the adrenal glands. For this reason, patients receive detailed counselling and education on the need for lifelong replacement therapy. To our knowledge, this is the third reported case of spontaneous recovery of the adrenal axis in Addison's disease. Recovery may therefore be more common than previously appreciated, which may have major implications for the treatment and monitoring of this condition, and for the education given to patients at diagnosis. Learning points Partial recovery from Addison's disease is possible although uncommon.Patients with long-term endocrine conditions on replacement therapy still benefit from regular clinical and biochemical assessment, to revisit optimal management.As further reports of adrenal axis recovery

  16. Necrotizing lymphadenitis: If not tuberculosis then what?

    PubMed Central

    Punjabi, Rhea K.

    2018-01-01

    We present a rare case of Kikuchi disease in a young lady presenting with fever and cervical lymphadenopathy. Clinically, the disease mimics tuberculosis and lymphoma. Lymph node biopsy is diagnostic and treatment is symptomatic. Although tuberculosis is endemic, clinicians should be aware of uncommon conditions as early recognition of the disease will minimize unnecessary evaluation and treatment. PMID:29915771

  17. Necrotizing lymphadenitis: If not tuberculosis then what?

    PubMed

    Punjabi, Rhea K

    2018-01-01

    We present a rare case of Kikuchi disease in a young lady presenting with fever and cervical lymphadenopathy. Clinically, the disease mimics tuberculosis and lymphoma. Lymph node biopsy is diagnostic and treatment is symptomatic. Although tuberculosis is endemic, clinicians should be aware of uncommon conditions as early recognition of the disease will minimize unnecessary evaluation and treatment.

  18. The prevalence of chronic diseases and major disease risk factors at different ages among 150 000 men and women living in Mexico City: cross-sectional analyses of a prospective study

    PubMed Central

    Kuri-Morales, Pablo; Emberson, Jonathan; Alegre-Díaz, Jesús; Tapia-Conyer, Roberto; Collins, Rory; Peto, Richard; Whitlock, Gary

    2009-01-01

    Background While most of the global burden from chronic diseases, and especially vascular diseases, is now borne by low and middle-income countries, few large-scale epidemiological studies of chronic diseases in such countries have been performed. Methods From 1998–2004, 52 584 men and 106 962 women aged ≥35 years were visited in their homes in Mexico City. Self reported diagnoses of chronic diseases and major disease risk factors were ascertained and physical measurements taken. Age- and sex-specific prevalences and means were analysed. Results After about age 50 years, diabetes was extremely common – for example, 23.8% of men and 26.9% of women aged 65–74 reported a diagnosis. By comparison, ischaemic heart disease was reported by 4.8% of men and 3.0% of women aged 65–74, a history of stroke by 2.8% and 2.3%, respectively, and a history of cancer by 1.3% and 2.1%. Cancer history was generally more common among women than men – the excess being largest in middle-age, due to breast and cervical cancer. At older ages, the gap narrowed because of an increasing prevalence of prostate cancer. 51% of men and 25% of women aged 35–54 smoked cigarettes, while 29% of men and 41% of women aged 35–54 were obese (i.e. BMI ≥30 kg/m2). The prevalence of treated hypertension or measured blood pressure ≥140/90 mmHg increased about 50% more steeply with age among women than men, to 66% of women and 58% of men aged 65–74. Physical inactivity was highly prevalent but daily alcohol drinking was relatively uncommon. Conclusion Diabetes, obesity and tobacco smoking are highly prevalent among adults living in Mexico City. Long-term follow-up of this and other cohorts will establish the relevance of such factors to the major causes of death and disability in Mexico. PMID:19134207

  19. Coexistence of Multiple Sclerosis and Brain Tumor: An Uncommon Diagnostic Challenge.

    PubMed

    Abrishamchi, Fatemeh; Khorvash, Fariborz

    2017-01-01

    Nonneoplastic demyelinating processes of the brain with mass effect on magnetic resonance imaging can cause diagnostic difficulties. It requires differential diagnosis between the tumefactive demyelinating lesion and the coexistence of neoplasm. We document the case of 41-year-old woman with clinical and radiological findings suggestive of multiple sclerosis. Additional investigations confirmed the coexistence of astrocytoma. This report emphasizes the importance of considering brain tumors in the differential diagnosis of primary demyelinating disease presenting with a cerebral mass lesion.

  20. Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease.

    PubMed

    Takeuchi, Tomiko; Muraoka, Koko; Yamada, Megumi; Nishio, Yuri; Hozumi, Isao

    2016-01-01

    Idiopathic basal ganglia calcification (IBGC) is a rare, intractable disease with unknown etiology. IBGC3 is a familial genetic disease defined by genetic mutations in the major causative gene ( SLC20A2 ). People with IBGC3 experience distress from the uncommon nature of their illness and uncertainty about treatment and prognoses. The present study aimed to describe the lives and illness of people with IBGC3. Participants were recruited from patients aged 20 years or older enrolled in a genetic study, who were diagnosed with IBGC3 and wanted to share their experiences. In-depth semi-structured interviews were conducted with six participants. Interviews were conducted between December 2012 and February 2014, and were recorded and transcribed verbatim. Qualitative data analysis was performed to identify categories and subcategories. Efforts were made to ensure the credibility, transferability, dependability, conformability, and validity of the data. Six thematic categories, 17 subcategories, and 143 codes emerged. The six categories were: (1) Frustration and anxiety with progression of symptoms without a diagnosis; (2) Confusion about diagnosis with an unfamiliar disease; (3) Emotional distress caused by a genetic disease; (4) Passive attitude toward life, being extra careful; (5) Taking charge of life, becoming active and engaged; and (6) Requests for healthcare. The qualitative data analysis indicated a need for genetic counseling, access to disease information, establishment of peer and family support systems, mental health services, and improvement in early intervention and treatment for the disease.

  1. Lichenoid Variant of Chronic Cutaneous Graft Versus Host Reaction Post Blood Transfusion: A Rare Event Post Blood Transfusion.

    PubMed

    Ramakrishnaiah, Pushpa Kodipalya; Lakshman, Archana; Aradhya, Sacchidanand Sarvajnamurthy; Veerabhadrappa, Nataraja Holavanahally

    2015-01-01

    Chronic graft versus host disease (GVHD) is a less frequently seen disease that occurs post solid organ or bone marrow transplantation. Chronic GVHD occurring post blood transfusion is an even more uncommon disease. It can present either as a lichenoid disease or as a sclerodermatous disease involving multiple systems. In this article, we report a case of chronic graft versus host reaction occurring in skin secondary to blood transfusion.

  2. Emerging infectious diseases with cutaneous manifestations: Fungal, helminthic, protozoan and ectoparasitic infections.

    PubMed

    Kollipara, Ramya; Peranteau, Andrew J; Nawas, Zeena Y; Tong, Yun; Woc-Colburn, Laila; Yan, Albert C; Lupi, Omar; Tyring, Stephen K

    2016-07-01

    Given increased international travel, immigration, changing climate conditions, and the increased incidence of iatrogenic immunosuppression, fungal, protozoan, helminthic, and ectoparasitic infections that were once uncommon are being seeing more frequently in the Western hemisphere. However, the diagnosis and management of these infections is fraught with a lack of consistency because there is a dearth of dermatology literature on the cutaneous manifestations of these infections. In addition, delays in the diagnosis and treatment of these diseases can lead to significant patient morbidity and mortality. We review the epidemiology, cutaneous manifestations, diagnostic modalities, and treatment options for emerging fungal, protozoan, helminthic, and ectoparasitic infections. It should be noted, however, that throughout this review we cite statistics documenting their increased incidence to back-up these infections as emerging, and although some of the diagnoses are clinical, others rely on newer laboratory tests, and the possibility exists that the increased incidence could be caused by better detection methods. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  3. Favorable Local Control From Consolidative Radiation Therapy in High-Risk Neuroblastoma Despite Gross Residual Disease, Positive Margins, or Nodal Involvement

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Ferris, Matthew J., E-mail: mjferri@emory.edu; Winship Cancer Institute, Emory University, Atlanta, Georgia; Danish, Hasan

    Purpose: To report the influence of radiation therapy (RT) dose and surgical pathology variables on disease control and overall survival (OS) in patients treated for high-risk neuroblastoma at a single institution. Methods and Materials: We conducted a retrospective study of 67 high-risk neuroblastoma patients who received RT as part of definitive management from January 2003 until May 2014. Results: At a median follow-up of 4.5 years, 26 patients (38.8%) failed distantly; 4 of these patients also failed locally. One patient progressed locally without distant failure. Local control was 92.5%, and total disease control was 59.5%. No benefit was demonstrated for RT doses over 21.6 Gymore » with respect to local relapse–free survival (P=.55), disease-free survival (P=.22), or OS (P=.72). With respect to local relapse–free survival, disease-free survival, and OS, no disadvantage was seen for positive lymph nodes on surgical pathology, positive surgical margins, or gross residual disease. Of the patients with gross residual disease, 75% (6 of 8) went on to have no evidence of disease at time of last follow-up, and the 2 patients who failed did so distantly. Conclusions: Patients with high-risk neuroblastoma in this series maintained excellent local control, with no benefit demonstrated for radiation doses over 21.6 Gy, and no disadvantage demonstrated for gross residual disease after surgery, positive surgical margins, or pathologic lymph node positivity. Though the limitations of a retrospective review for an uncommon disease must be kept in mind, with small numbers in some of the subgroups, it seems that dose escalation should be considered only in exceptional circumstances.« less

  4. An Uncommon Cottage

    ERIC Educational Resources Information Center

    Carlson, Scott

    2008-01-01

    This article features the Cliffs Cottage, a "showcase home" at Furman University which demonstrates the use of green technology in residential building and teaches about sustainability. Custom-built for the shelter-magazine dreams of "Southern Living," a sponsor of the home, the house seems better suited for a tony subdivision.…

  5. Cutaneous manifestations associated with adult-onset Still's disease: important diagnostic values.

    PubMed

    Yamamoto, Toshiyuki

    2012-08-01

    Adult-onset Still's disease (AOSD) is a systemic inflammatory condition, characterized by a high spiking fever, leukocytosis with neutrophilia, arthralgia, and skin rash. Typical skin rash is an evanescent, salmon-pink erythema predominantly involving extremities, which is included as one of the diagnostic criteria; however, recent findings show that not only typical evanescent rash but also various skin lesions are associated with AOSD. The representative characteristic skin lesion among the non-classical skin rash is called persistent pruritic papules and plaques, which presents erythematous, slightly scaly papules with linear configuration on the trunk. Interestingly, persistent pruritic papules and plaques show unique histological features such as peculiar, distinctive distribution of dyskeratotic keratinocytes in the cornified layers as well as in the epidermis. Other non-classical skin lesions include urticaria. Current insights suggest that several inflammatory cytokines such as interleukin-1 (IL-1), IL-6, IL-18, interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) play a pathogenic role in AOSD. In particular, IL-18 is suggested to play a crucial role in activating macrophages, favoring Th1 type cytokine production. IL-18 induces IFN-γ, IL-17, and TNF-α, which may play an important pathogenic role in AOSD. It is important to recognize the common and/or uncommon skin conditions of AOSD for early correct diagnosis. In this review, various skin lesions are introduced, and the complication with histiocytic necrotizing lymphadenitis (Kikuchi disease) is further discussed.

  6. Rituximab is effective in severe treatment-resistant neurological Behçet's syndrome.

    PubMed

    Kidd, D P

    2015-12-01

    The objective of this study is to describe a case of severe and treatment-resistant neurological Behçet's syndrome responsive to a novel therapy. This case report describes the patient who failed to respond to conventional therapy but the brain stem lesion resolved with the anti-CD20 biological agent rituximab. Neurological complications are uncommon in Behçet's syndrome; 80% involve a meningoencephalitis which can be severe and relapsing. This is the first report of effectiveness of rituximab in this uncommon disease.

  7. One Not to Miss: Ovarian Vein Thrombosis Causing Pulmonary Embolism with Literature Review

    PubMed Central

    Verde, Franco; Johnson, Pamela T.

    2012-01-01

    Ovarian vein thrombosis (OVT) is an uncommon entity typically seen in the post-partum, patients with pelvic surgery, infection, or inflammation, and hypercoagulabilty. Concurrent pulmonary embolism (PE) may occur in these patients; however, is an uncommon complication. Treatment commonly involves anti-coagulation and antibiotics in the setting of pelvic inflammatory disease. Presented is a case report of ovarian vein thrombosis leading to pulmonary embolism in the setting of malignancy, underscoring the importance of inspecting the gonadal vein during interpretation, particularly in the emergency setting. PMID:23378885

  8. Epidemiology of salivary gland infections.

    PubMed

    Cascarini, Luke; McGurk, Mark

    2009-08-01

    This article approaches sialadenitis from a personal perspective based on 15 years of clinical practice limited mainly to salivary gland diseases. Disorders of the salivary glands are uncommon. When they occur, experience in managing the process is diluted over a range of disciplines. The result is that traditional views go unchallenged and are recast unchanged from one textbook to another. Sialadenitis of bacterial origin is a relatively uncommon occurrence today and is normally associated with sialoliths. The most common viral infection of the salivary glands is mumps.

  9. Cat-scratch disease presenting as multiple hepatic lesions: case report and literature review.

    PubMed

    Baptista, Mariana Andrade; Lo, Denise Swei; Hein, Noely; Hirose, Maki; Yoshioka, Cristina Ryoka Miyao; Ragazzi, Selma Lopes Betta; Gilio, Alfredo Elias; Ferronato, Angela Esposito

    2014-01-01

    Although infectious diseases are the most prevalent cause of fevers of unknown origin (FUO), this diagnosis remains challenging in some pediatric patients. Imaging exams, such as computed tomography (CT) are frequently required during the diagnostic processes. The presence of multiple hypoattenuating scattered images throughout the liver associated with the history of cohabitation with cats should raise the suspicion of the diagnosis of cat-scratch disease (CSD), although the main etiologic agent of liver abscesses in childhood is S taphylococcus aureus . Differential diagnosis by clinical and epidemiological data with Bartonella henselae is often advisable. The authors report the case of a boy aged 2 years and 9 months with 16-day history of daily fever accompanied by intermittent abdominal pain. Physical examination was unremarkable. Abdominal ultrasound performed in the initial work up was unrevealing, but an abdominal CT that was performed afterwards disclosed multiple hypoattenuating hepatic images compatible with the diagnosis of micro abscesses. Initial antibiotic regimen included cefotaxime, metronidazole, and oxacillin. Due to the epidemiology of close contact with kittens, diagnosis of CSD was considered and confirmed by serologic tests. Therefore, the initial antibiotics were replaced by clarithromycin orally for 14 days followed by fever defervescence and clinical improvement. The authors call attention to this uncommon diagnosis in a child presenting with FUO and multiple hepatic images suggestive of micro abscesses.

  10. Spontaneously occurring restrictive nonhypertrophied cardiomyopathy in domestic cats: a new animal model of human disease.

    PubMed

    Fox, Philip R; Basso, Cristina; Thiene, Gaetano; Maron, Barry J

    2014-01-01

    Spontaneously occurring small animal models of myocardial disease, closely resembling the human condition, have been reported for hypertrophic cardiomyopathy (in cats) and arrhythmogenic right ventricular cardiomyopathy (in cats and boxer dogs). Nonhypertrophied restrictive cardiomyopathy (RCM) is a well-recognized but relatively uncommon primary heart muscle disease causing substantial morbidity in humans. We describe RCM occurring in felines here as a potential model of human disease. We used two-dimensional and Doppler echocardiography to define morphologic and functional features of RCM in 35 domestic cats (25 male; 10±4 years old) presenting to a subspecialty veterinary clinic. Ten underwent complete necropsy examination. Echocardiographic parameters of diastolic filling were compared to those in 41 normal controls. The 35 cats presented with congestive heart failure (n=32), lethargy (n=2), or syncope (n=1), associated with thromboembolism in 5 and supraventricular tachyarrhythmias in 8. During an average 4.4-year follow-up period, 18 died or were euthanized due to profound heart failure, and 3 died suddenly; survival from clinical presentation to death was 0.1 to 52 months. Echocardiographic and necropsy examination showed biatrial enlargement, nondilated ventricular chambers, and normal wall thicknesses and atrioventricular valves. Histopathology demonstrated disorganized myocyte architecture and patchy replacement myocardial fibrosis. Pulsed Doppler demonstrated restrictive physiology with increased early (E) mitral filling velocity (1.1±0.3 m/s) and peak E to peak late (A) flow ratios (4.3±1.2), reduced A filling velocity (0.3±0.1 m/s), and shortened mitral deceleration time (40.7±9.3 ms; all P<.001 vs. controls), with preserved left ventricular systolic function. A primary myocardial disease occurring spontaneously in domestic cats is remarkably similar to restrictive nondilated and nonhypertrophied cardiomyopathy in man and represents another

  11. Drug-disease and drug-drug interactions: systematic examination of recommendations in 12 UK national clinical guidelines.

    PubMed

    Dumbreck, Siobhan; Flynn, Angela; Nairn, Moray; Wilson, Martin; Treweek, Shaun; Mercer, Stewart W; Alderson, Phil; Thompson, Alex; Payne, Katherine; Guthrie, Bruce

    2015-03-11

    To identify the number of drug-disease and drug-drug interactions for exemplar index conditions within National Institute of Health and Care Excellence (NICE) clinical guidelines. Systematic identification, quantification, and classification of potentially serious drug-disease and drug-drug interactions for drugs recommended by NICE clinical guidelines for type 2 diabetes, heart failure, and depression in relation to 11 other common conditions and drugs recommended by NICE guidelines for those conditions. NICE clinical guidelines for type 2 diabetes, heart failure, and depression Potentially serious drug-disease and drug-drug interactions. Following recommendations for prescription in 12 national clinical guidelines would result in several potentially serious drug interactions. There were 32 potentially serious drug-disease interactions between drugs recommended in the guideline for type 2 diabetes and the 11 other conditions compared with six for drugs recommended in the guideline for depression and 10 for drugs recommended in the guideline for heart failure. Of these drug-disease interactions, 27 (84%) in the type 2 diabetes guideline and all of those in the two other guidelines were between the recommended drug and chronic kidney disease. More potentially serious drug-drug interactions were identified between drugs recommended by guidelines for each of the three index conditions and drugs recommended by the guidelines for the 11 other conditions: 133 drug-drug interactions for drugs recommended in the type 2 diabetes guideline, 89 for depression, and 111 for heart failure. Few of these drug-disease or drug-drug interactions were highlighted in the guidelines for the three index conditions. Drug-disease interactions were relatively uncommon with the exception of interactions when a patient also has chronic kidney disease. Guideline developers could consider a more systematic approach regarding the potential for drug-disease interactions, based on epidemiological

  12. National survey of tuberculosis notifications in England and Wales 1978--9. Report from the Medical Research Council Tuberculosis and Chest Diseases Unit.

    PubMed Central

    1980-01-01

    A survey of all tuberculosis notifications in England and Wales for a six-month period showed that 70% of 3732 newly notified, previously untreated patients had respiratory disease only, 23% had non-respiratory disease only, and 7% had both. Fifty-seven per cent of patients were of white and 35% were of Indian subcontinent (Indian, Pakistani, or Bangladeshi) ethnic origin, the latter group contributing over half the cases of non-respiratory disease. The estimated overall annual notification rate per 100 000 population for 1978--9 was 16.4 for England and 13.5 for Wales. The rates differed considerably between the different ethnic groups in England, the highest rates occurring in the Indian and in the Pakistani and Bangladeshi groups and the lowest in the white group; the differences in the non-respiratory rates were the more striking. Nearly a quarter of patients with respiratory disease had large pulmonary lesions, the proportion being higher for the white group than for the Indian subcontinent group. Over half the patients had positive cultures for tubercle bacilli and over a third had positive smears; both proportions were higher for the white group. This survey has identified many of the problems which tuberculosis presents in England and Wales today. These include the substantial number of patients with sputum-positive disease, the considerable variation in the rates in the different ethnic groups, and the not uncommon occurrence of childhood tuberculosis. PMID:7427500

  13. Benefits of Heart Rate Slowing With Ivabradine in Patients With Systolic Heart Failure and Coronary Artery Disease.

    PubMed

    Borer, Jeffrey S; Deedwania, Prakash C; Kim, Jae B; Böhm, Michael

    2016-12-15

    Heart rate (HR) is a risk factor in patients with chronic systolic heart failure (HF) that, when reduced, provides outcome benefits. It is also a target for angina pectoris prevention and a risk marker in chronic coronary artery disease without HF. HR can be reduced by drugs; however, among those used clinically, only ivabradine reduces HR directly in the sinoatrial nodal cells without other known effects on the cardiovascular system. This review provides current information regarding the safety and efficacy of HR reduction with ivabradine in clinical studies involving >36,000 patients with chronic stable coronary artery disease and >6,500 patients with systolic HF. The largest trials, Morbidity-Mortality Evaluation of the I f Inhibitor Ivabradine in Patients With Coronary Disease and Left Ventricular Dysfunction and Study Assessing the Morbidity-Mortality Benefits of the I f Inhibitor Ivabradine in Patients With Coronary Artery Disease, showed no effect on outcomes. The Systolic Heart Failure Treatment With the I f Inhibitor Ivabradine Trial, a randomized controlled trial in >6,500 patients with HF, revealed marked and significant HR-mediated reduction in cardiovascular mortality or HF hospitalizations while improving quality of life and left ventricular mechanical function after treatment with ivabradine. The adverse effects of ivabradine predominantly included bradycardia and atrial fibrillation (both uncommon) and ocular flashing scotomata (phosphenes) but otherwise were similar to placebo. In conclusion, ivabradine improves outcomes in patients with systolic HF; rates of overall adverse events are similar to placebo. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Efficacy and Safety of Ranibizumab 0.5 mg for the Treatment of Macular Edema Resulting from Uncommon Causes: Twelve-Month Findings from PROMETHEUS.

    PubMed

    Staurenghi, Giovanni; Lai, Timothy Y Y; Mitchell, Paul; Wolf, Sebastian; Wenzel, Andreas; Li, Jun; Bhaumik, Amitabha; Hykin, Philip G

    2018-06-01

    To evaluate the efficacy and safety of ranibizumab 0.5 mg in adult patients with macular edema (ME) resulting from any cause other than diabetes, retinal vein occlusion, or neovascular age-related macular degeneration. A phase 3, 12-month, double-masked, randomized, sham-controlled, multicenter study. One hundred seventy-eight eligible patients aged ≥18 years. Patients were randomized 2:1 to receive either ranibizumab 0.5 mg (n = 118) or sham (n = 60) at baseline and month 1. From month 2, patients in both arms received open-label individualized ranibizumab treatment based on disease activity. A preplanned subgroup analysis was conducted on the primary end point on 5 predefined baseline ME etiologies (inflammatory/post-uveitis, pseudophakic or aphakic, central serous chorioretinopathy, idiopathic, and miscellaneous). Changes in best-corrected visual acuity (BCVA; Early Treatment Diabetic Retinopathy Study letters) from baseline to month 2 (primary end point) and month 12 and safety over 12 months. Overall, 156 patients (87.6%) completed the study. The baseline characteristics were well balanced between the treatment arms. Overall, ranibizumab showed superior efficacy versus sham from baseline to month 2 (least squares mean BCVA, +5.7 letters vs. +2.9 letters; 1-sided P = 0.0111), that is, a treatment effect (TE) of +2.8 letters. The mean BCVA gain from baseline to month 12 was 9.6 letters with ranibizumab. The TE at month 2 was variable in the 5 predefined etiology subgroups, ranging from >5-letter gain to 0.5-letter loss. The safety findings were consistent with the well-established safety profile of ranibizumab. The primary end point was met and ranibizumab showed superiority in BCVA gain over sham in treating ME due to uncommon causes, with a TE of +2.8 letters versus sham at month 2. At month 12, the mean BCVA gain was high (9.6 letters) in the ranibizumab arm; however, the TE was observed to be variable across the different etiology subgroups

  15. Mitogenomes from Two Uncommon Haplogroups Mark Late Glacial/Postglacial Expansions from the Near East and Neolithic Dispersals within Europe

    PubMed Central

    Olivieri, Anna; Pala, Maria; Gandini, Francesca; Kashani, Baharak Hooshiar; Perego, Ugo A.; Woodward, Scott R.; Grugni, Viola; Battaglia, Vincenza; Semino, Ornella; Achilli, Alessandro; Richards, Martin B.; Torroni, Antonio

    2013-01-01

    The current human mitochondrial (mtDNA) phylogeny does not equally represent all human populations but is biased in favour of representatives originally from north and central Europe. This especially affects the phylogeny of some uncommon West Eurasian haplogroups, including I and W, whose southern European and Near Eastern components are very poorly represented, suggesting that extensive hidden phylogenetic substructure remains to be uncovered. This study expanded and re-analysed the available datasets of I and W complete mtDNA genomes, reaching a comprehensive 419 mitogenomes, and searched for precise correlations between the ages and geographical distributions of their numerous newly identified subclades with events of human dispersal which contributed to the genetic formation of modern Europeans. Our results showed that haplogroups I (within N1a1b) and W originated in the Near East during the Last Glacial Maximum or pre-warming period (the period of gradual warming between the end of the LGM, ∼19 ky ago, and the beginning of the first main warming phase, ∼15 ky ago) and, like the much more common haplogroups J and T, may have been involved in Late Glacial expansions starting from the Near East. Thus our data contribute to a better definition of the Late and postglacial re-peopling of Europe, providing further evidence for the scenario that major population expansions started after the Last Glacial Maximum but before Neolithic times, but also evidencing traces of diffusion events in several I and W subclades dating to the European Neolithic and restricted to Europe. PMID:23936216

  16. Metastatic renal cell carcinoma associated with acquired cystic kidney disease 15 years after successful renal transplantation.

    PubMed

    Lien, Y H; Kam, I; Shanley, P F; Schröter, G P

    1991-12-01

    Renal cell carcinoma (RCC) is a relatively uncommon cancer in renal transplant patients. From 1968 to 1987, 101 cases of RCC of native kidneys have been reported to the Cincinnati Transplant Tumor Registry. We describe here a case of metastatic RCC associated with acquired cystic kidney disease (ACKD) 15 years after successful renal transplantation. The patient presented with a subcutaneous nodule, which led to discovery of a large primary tumor in the left kidney. ACKD was present in the atrophic right kidney. The reported cases of ACKD-associated RCC in renal transplant recipients were reviewed. Most of these cases are middle-aged men with a long posttransplant course, good graft function, and usage of azathioprine and prednisone as immunosuppressive agents. ACKD can develop or persist and progress to RCC many years after successful renal transplantation. Transplant patients with flank pain, hematuria, or other suspicious symptoms should have imaging studies of their native kidneys.

  17. Occult bacteraemia is uncommon in febrile infants who appear well, and close clinical follow-up is more appropriate than blood tests.

    PubMed

    Hernandez-Bou, Susanna; Trenchs, Victoria; Batlle, Astrid; Gene, Amadeu; Luaces, Carles

    2015-02-01

    The rate of paediatric occult bacteraemia after the introduction of the 13-valent pneumococcal conjugated vaccine is relatively unknown. We determined the rate, and identified isolated pathogens, in children aged three to 36 months who presented to a paediatric emergency department with fever, but otherwise appeared well. We also analysed the yield of laboratory parameters traditionally considered risk factors for occult bacteraemia. Children aged three to 36 months who were febrile, but otherwise appeared well, were included if they had blood tests in the paediatric emergency department between April 2010 and September 2012. Of the 591 patients, only six (1.0%) had a true bacterial pathogen and three of those were Streptococcus pneumoniae (0.5%). None of the children with pneumococcal bacteraemia had been immunised. The contaminant rate was 2.7%, and an elevated band count was the best predictor of occult bacteraemia, with positive and negative likelihood ratios of 10 and 0.4, respectively. The yield of the other laboratory parameters was very limited. In the era of the 13-valent pneumococcal conjugated vaccine, occult bacteraemia is an uncommon event in febrile children aged three to 36 who otherwise appear well and close follow-up should replace blood analysis in such cases. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  18. [Uncommon cutaneous presentation of visceral Leishmaniasis associated with HIV].

    PubMed

    Cossart, C; Le Moal, G; Garcia, M; Frouin, E; Hainaut-Wierzbicka, E; Roblot, F

    2016-12-01

    Visceral leishmaniasis is not normally expressed in skin. Herein, we describe the case of an HIV-positive patient who developed two unusual skin manifestations during an episode of visceral leishmaniasis. A 48-year-old female patient consulted initially for infiltrated purpura of all four limbs. Skin biopsy revealed leukocytoclastic vasculitis with Leishman-Donovan bodies. Laboratory tests showed medullary, splenic, gastric and colic involvement, suggesting systemic disease, and enabling visceral leishmaniasis to be diagnosed. Two years later, despite prolonged treatment, the patient presented maculopapular exanthema, and histology revealed persistent Leishman-Donovan bodies. We report herein an association of two rare skin manifestations in an HIV-positive patient with visceral leishmaniasis: infiltrated purpura and maculopapular exanthema. However, the underlying mechanisms remain hypothetical. The initial leukocytoclastic exanthema could be secondary to either polyclonal hypergammaglobulinaemia or to IgA deposits, or possibly to mechanical impairment of blood vessels by the actual parasite. The maculopapular exanthema occurring later raised the possibility of post-Kala-Azar leishmaniasis due to blood-borne dissemination in an anergic subject or perhaps even immune reconstitution inflammatory syndrome. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  19. Rapid clinical diagnosis of Legionnaires' disease during the "herald wave" of the swine influenza (H1N1) pandemic: the Legionnaires' disease triad.

    PubMed

    Cunha, Burke A; Mickail, Nardeen; Syed, Uzma; Strollo, Stephanie; Laguerre, Marianne

    2010-01-01

    In adults hospitalized with atypical community-acquired pneumonia (CAP), Legionnaires' disease is not uncommon. Legionnaire's disease can be differentiated from typical CAPs and from other atypical CAPs based on its characteristic pattern of extrapulmonary organ involvement. The first clinically useful diagnostic weighted point score system for the clinical diagnosis of Legionnaires' disease was developed by the Infectious Disease Division at Winthrop-University Hospital in the 1980s. It has proven to be diagnostically accurate and useful for more than two decades, but was time-consuming. Because Legionella spp. diagnostic tests are time-dependent and problematic, a need was perceived for a rapid, simple way to render a clinical, syndromic diagnosis of Legionnaires' disease pending Legionella test results. During the "herald wave" of the swine influenza (H1N1) pandemic in the New York area, our hospital, like others, was inundated with patients who presented to the Emergency Department with influenza-like illnesses (ILIs) for H1N1 testing/evaluation. Most patients with ILIs did not have swine influenza. Hospitalized patients with ILIs who tested positive with rapid influenza diagnostic tests (RIDTs) were placed on influenza precautions and treated with oseltamivir. Unfortunately, approximately 30% of adult patients admitted with an ILI had negative RIDTs. Because the definitive laboratory diagnosis of H1N1 pneumonia by reverse transcription-polymerase chain reaction(RT-PCR), testing was restricted by health departments, resulted in clinical and infection control dilemmas in determining which RIDT-negative patients did, in fact, have H1N1 pneumonia. Accordingly, a diagnostic weighted point score system was developed for H1N1 pneumonia patients, based on RT-PCR positivity by the Infectious Disease Division at Winthrop-University Hospital. This diagnostic point score system for hospitalized adults with negative RIDTs was time-consuming. As the pandemic progressed, a

  20. Prevalence of oral allergy syndrome in children with allergic diseases.

    PubMed

    Bedolla-Barajas, M; Kestler-Gramajo, A; Alcalá-Padilla, G; Morales-Romero, J

    The oral allergy syndrome (OAS) is a particular type of food allergy rarely explored in the paediatric population that is already considered an adult problem. Identify the prevalence of OAS, symptoms and pollen species associated with its presence in children affected by allergic diseases. A cross-sectional study was conducted. Consecutive sampling included children from 6 to 14 years who needed allergy treatment for the first time. A structured questionnaire was carried out to collect demographic and clinical data and history of OAS. Besides sensitisation to various allergens, the skin prick-by-prick test was performed to corroborate sensitisation to food related to OAS. Prevalence of OAS and its association with pollens was established following the covariate adjusted logistic regression. 267 subjects were included. Overall prevalence of OAS was 8.9% (95%CI 6.1-13.1%). Prevalence of OAS for allergic rhinitis and asthma were 8.8% and 9.1%, respectively. In patients sensitised to pollen, the prevalence ranged from 9.6% to 12.2% depending on the type of pollen. 62.5% of children with OAS were sensitive to pineapple. After adjusting for gender and family history of atopic disease, trees from the Quercus species showed an association with OAS (OR=2.7, 95%CI 1.2-6.2). OAS is not uncommon in our environment. Pineapple, a typical fruit from the region, was the main food related. Quercus sp., but not birch nor olive, was the pollen associated with this syndrome. Copyright © 2016 SEICAP. Published by Elsevier España, S.L.U. All rights reserved.

  1. Wegener granulomatosis as an uncommon cause of panhypopituitarism in childhood.

    PubMed

    Kara, Ozlem; Demirel, Fatma; Acar, Banu Celikel; Cakar, Nilgün

    2013-01-01

    Wegener granulomatosis (WG) is a cytoplasmic antineutrophil cytoplasmic antibody (c-ANCA)-associated, multi-system, necrotizing granulomatous vasculitis. Inflammation of the nasal or oral mucosa, and lung and kidney involvements are typical in the course of the disease. In rare cases, pituitary involvement may occur and cause panhypopituitarism. Pituitary involvement is very rare, and only two pediatric case reports have been published to date out of a total of 24 cases. This is a case report of an adolescent patient who presented with panhypopituitarism symptoms and was later diagnosed with WG. A 16-year-old female patient complained of fever, headache, purulent nasal discharge and severe muscle and joint pain. Additionally, she had polyuria and polydipsia. Investigations revealed a pituitary mass and panhypopituitarism. Positivity of c-ANCA and renal biopsy result compatible with WG confirmed the diagnosis.

  2. Management of concomitant coronary artery disease in patients undergoing transcatheter aortic valve implantation: the United Kingdom TAVI Registry.

    PubMed

    Snow, Thomas M; Ludman, Peter; Banya, Winston; DeBelder, Mark; MacCarthy, Philip M; Davies, Simon W; Di Mario, Carlo; Moat, Neil E

    2015-11-15

    The management and impact of concomitant coronary artery disease in patients referred for TAVI remains contentious. We describe the prevalence, clinical impact and management of coronary artery disease (CAD) in patients in the United Kingdom TAVI Registry. All-inclusive study of patients undergoing TAVI in the United Kingdom (excluding Northern Ireland) from January 2007 to December 2011. Coronary artery disease at the time of TAVI was demonstrated on invasive angiography. 2588 consecutive patients were entered in the U.K. TAVI Registry. CAD was reported in 1171 pts with left main stem involvement in 12.4% of this cohort (n=145). Most patients were free of chest pain, but limited by dyspnoea (NYHA Class III & IV 81.9%). Angina was however more prevalent in those patients with CAD (p<0.0001). Hybrid PCI was uncommon, performed in only 14.7% of the CAD cohort (n=172). Survival at 30days, 1year, and 4years was 93.7%, 81.4% and 72.0% respectively. Adjusting for confounders in a multivariate model the presence and extent of CAD was not associated with early (30-days, p=0.36) or late (4years, p=0.10) survival. This contemporary study of coronary artery disease management in an "all-comers" patient population undergoing TAVI demonstrates that whilst often an indicator of significant underlying comorbidity coronary artery disease is not associated with decreased short or long-term survival. The majority of patients with aortic stenosis and concomitant CAD can be managed effectively by TAVI alone. However, the importance of the Heart Team in making decisions on individual patients must not be underestimated. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Abnormalities in lung volumes and airflow in children with newly diagnosed connective tissue disease.

    PubMed

    Peradzyńska, Joanna; Krenke, Katarzyna; Szylling, Anna; Kołodziejczyk, Beata; Gazda, Agnieszka; Rutkowska-Sak, Lidia; Kulus, Marek

    2016-01-01

    Connective tissue diseases (CTDs) of childhood are rare inflammatory disorders, involving various organs and tissues including respiratory system. Pulmonary involvement in patients with CTDs is uncommon but may cause functional impairment. Data on prevalence and type of lung function abnormalities in children with CTDs are scarce. Thus, the aim of this study was to asses pulmonary functional status in children with newly diagnosed CTD and follow the results after two years of the disease course. There were 98 children (mean age: 13 ± 3; 76 girls), treated in Department of Pediatric Rheumatology, Institute of Rheumatology, Warsaw and 80 aged-matched, healthy controls (mean age 12.7 ± 2.4; 50 girls) included into the study. Study procedures included medical history, physical examination, chest radiograph and PFT (spirometry and whole body-plethysmography). Then, the assessment of PFT was performed after 24 months. FEV₁, FEV₁/FVC and MEF50 were significantly lower in CTD as compared to control group, there was no difference in FVC and TLC. The proportion of patients with abnormal lung function was significantly higher in the study group, 41 (42%) vs 9 (11%). 24-months observation didn't reveal progression in lung function impairment. Lung function impairment is relatively common in children with CTDs. Although restrictive ventilatory pattern is considered typical feature of lung involvement in CTDs, airflow limitation could also be an initial abnormality.

  4. Recrudescence of Ebola virus disease outbreak in West Africa, 2014-2016.

    PubMed

    Lee, Hyojung; Nishiura, Hiroshi

    2017-11-01

    There have been errors in determining the end of the Ebola virus disease (EVD) epidemic when adhering to the criteria of the World Health Organization. The present study aimed to review and learn from all known recrudescence events in West Africa occurring in 2014-2016. Background mechanisms of five erroneous declarations in Guinea, Liberia, and Sierra Leone during 2014-2016 were reviewed. Three cases of recrudescence were suspected to have been caused by sexual contact with survivors, one to be due to international migration, and one was linked to a potentially immunocompromised mother. The three sexual transmission events involving survivors-the first two in Liberia and one in Sierra Leone-required 164 days, >150 days, and approximately 180 days, respectively, from discharge of the survivors to confirmation of the recrudescent case. The events of recrudescence were associated with relatively uncommon routes of transmission other than close contact during burial or care-giving, including sexual transmission, possible immunocompromise, and migration. Recognition of the sexual transmission risk among survivors could potentially involve discrimination, which may lead to under-ascertainment. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

  5. Interventional Cardiology for Congenital Heart Disease

    PubMed Central

    2018-01-01

    Congenital heart interventions are now replacing surgical palliation and correction in an evolving number of congenital heart defects. Right ventricular outflow tract and ductus arteriosus stenting have demonstrated favorable outcomes compared to surgical systemic to pulmonary artery shunting, and it is likely surgical pulmonary valve replacement will become an uncommon procedure within the next decade, mirroring current practices in the treatment of atrial septal defects. Challenges remain, including the lack of device design focused on smaller infants and the inevitable consequences of somatic growth. Increasing parental and physician expectancy has inevitably lead to higher risk interventions on smaller infants and appreciation of the consequences of these interventions on departmental outcome data needs to be considered. Registry data evaluating congenital heart interventions remain less robust than surgical registries, leading to a lack of insight into the longer-term consequences of our interventions. Increasing collaboration with surgical colleagues has not been met with necessary development of dedicated equipment for hybrid interventions aimed at minimizing the longer-term consequences of scar to the heart. Therefore, great challenges remain to ensure children and adults with congenital heart disease continue to benefit from an exponential growth in minimally invasive interventions and technology. This can only be achieved through a concerted collaborative approach from physicians, industry, academia and regulatory bodies supporting great innovators to continue the philosophy of thinking beyond the limits that has been the foundation of our specialty for the past 50 years. PMID:29671282

  6. Interventional Cardiology for Congenital Heart Disease.

    PubMed

    Kenny, Damien

    2018-05-01

    Congenital heart interventions are now replacing surgical palliation and correction in an evolving number of congenital heart defects. Right ventricular outflow tract and ductus arteriosus stenting have demonstrated favorable outcomes compared to surgical systemic to pulmonary artery shunting, and it is likely surgical pulmonary valve replacement will become an uncommon procedure within the next decade, mirroring current practices in the treatment of atrial septal defects. Challenges remain, including the lack of device design focused on smaller infants and the inevitable consequences of somatic growth. Increasing parental and physician expectancy has inevitably lead to higher risk interventions on smaller infants and appreciation of the consequences of these interventions on departmental outcome data needs to be considered. Registry data evaluating congenital heart interventions remain less robust than surgical registries, leading to a lack of insight into the longer-term consequences of our interventions. Increasing collaboration with surgical colleagues has not been met with necessary development of dedicated equipment for hybrid interventions aimed at minimizing the longer-term consequences of scar to the heart. Therefore, great challenges remain to ensure children and adults with congenital heart disease continue to benefit from an exponential growth in minimally invasive interventions and technology. This can only be achieved through a concerted collaborative approach from physicians, industry, academia and regulatory bodies supporting great innovators to continue the philosophy of thinking beyond the limits that has been the foundation of our specialty for the past 50 years. Copyright © 2018. The Korean Society of Cardiology.

  7. Xanthogranulomatous pyelonephritis with colesional actinomycosis in a 63-year-old man

    PubMed Central

    Gulwani, Hanni V.

    2015-01-01

    Xanthogranulomatous pyelonephritis is an uncommon chronic destructive granulomatous disease of the kidney. A rare case of xanthogranulomatous pyelonephritis with extrarenal extension that had coexistence of renal actinomycosis is described in this article. PMID:25878419

  8. Imaging biomarkers in Parkinson's disease and Parkinsonian syndromes: current and emerging concepts.

    PubMed

    Saeed, Usman; Compagnone, Jordana; Aviv, Richard I; Strafella, Antonio P; Black, Sandra E; Lang, Anthony E; Masellis, Mario

    2017-01-01

    Two centuries ago in 1817, James Parkinson provided the first medical description of Parkinson's disease, later refined by Jean-Martin Charcot in the mid-to-late 19th century to include the atypical parkinsonian variants (also termed, Parkinson-plus syndromes). Today, Parkinson's disease represents the second most common neurodegenerative disorder with an estimated global prevalence of over 10 million. Conversely, atypical parkinsonian syndromes encompass a group of relatively heterogeneous disorders that may share some clinical features with Parkinson's disease, but are uncommon distinct clinicopathological diseases. Decades of scientific advancements have vastly improved our understanding of these disorders, including improvements in in vivo imaging for biomarker identification. Multimodal imaging for the visualization of structural and functional brain changes is especially important, as it allows a 'window' into the underlying pathophysiological abnormalities. In this article, we first present an overview of the cardinal clinical and neuropathological features of, 1) synucleinopathies: Parkinson's disease and other Lewy body spectrum disorders, as well as multiple system atrophy, and 2) tauopathies: progressive supranuclear palsy, and corticobasal degeneration. A comprehensive presentation of well-established and emerging imaging biomarkers for each disorder are then discussed. Biomarkers for the following imaging modalities are reviewed: 1) structural magnetic resonance imaging (MRI) using T1, T2, and susceptibility-weighted sequences for volumetric and voxel-based morphometric analyses, as well as MRI derived visual signatures, 2) diffusion tensor MRI for the assessment of white matter tract injury and microstructural integrity, 3) proton magnetic resonance spectroscopy for quantifying proton-containing brain metabolites, 4) single photon emission computed tomography for the evaluation of nigrostriatal integrity (as assessed by presynaptic dopamine

  9. Percutaneous Management of Systemic Fungal Infection Presenting As Bilateral Renal Fungal Ball.

    PubMed

    Shukla, Abhishek; Shrivastava, Nitin; Singh, Chirom Amit; Nayak, Brusabhanu

    2016-01-01

    Background: Zygomycoses are uncommon, frequently fatal diseases caused by fungi of the class Zygomycetes. The majority of human cases are caused by Mucorales (genus-rhizopus, mucor, and absidia) fungi. Renal involvement is uncommon and urine microscopy, pottasium hydroxide mount, and fungal cultures are frequently negative. Case Presentation: A twenty-one-year-old young unmarried lady presented to our emergency department with bilateral flank pain, fever, nausea, and decreased urine output of one-month duration. She was found to have azotemia with sepsis with bilateral hydronephrosis with a left renal pelvic obstructing stone. Even after nephrostomy drainage and broad spectrum antibiotics, her condition worsened. She developed disseminated fungal infection, and timely systemic antifungal followed by bilateral nephroscopic clearance saved the patient. Conclusion: Although renal fungal infections are uncommon, a high index of suspicion and early antifungal and surgical intervention can give favorable outcomes.

  10. Anti-GBM disease after nephrectomy for xanthogranulomatous pyelonephritis in a patient expressing HLA DR15 major histocompatibility antigens: a case report.

    PubMed

    O'Hagan, Emma; Mallett, Tamara; Convery, Mairead; McKeever, Karl

    2015-01-01

    Antiglomerular basement membrane (anti-GBM) antibody disease is uncommon in the pediatric population. There are no cases in the literature describing the development of anti-GBM disease following XGP or nephrectomy. We report the case of a 7-year-old boy with no past history of urological illness, treated with antimicrobials and nephrectomy for diffuse, unilateral xanthogranulomatous pyelonephritis (XGP). Renal function and ultrasound scan of the contralateral kidney postoperatively were normal. Three months later, the child represented in acute renal failure with rapidly progressive glomerulonephritis requiring hemodialysis. Renal biopsy showed severe crescentic glomerulonephritis with 95% of glomeruli demonstrating circumferential cellular crescents. Strong linear IgG staining of the glomerular basement membranes was present, in keeping with anti-GBM disease. Circulating anti-GBM antibodies were positive. Treatment with plasma exchange, methylprednisolone, and cyclophosphamide led to normalization of anti-GBM antibody titers. Frequency of hemodialysis was reduced as renal function improved, and he is currently independent of dialysis with estimated glomerular filtration rate 20.7 mls/min/1.73 m 2 . Case studies in the adult literature have reported the development of a rapidly progressive anti-GBM antibody-induced glomerulonephritis following renal surgery where patients expressed HLA DR2/HLA DR15 major histocompatibility (MHC) antigens. Of note, our patient also expresses the HLA DR15 MHC antigen.

  11. Kaiser Permanente Creatinine Safety Program: A Mechanism to Ensure Widespread Detection and Care for Chronic Kidney Disease.

    PubMed

    Sim, John J; Rutkowski, Mark P; Selevan, David C; Batech, Michael; Timmins, Royann; Slezak, Jeff M; Jacobsen, Steven J; Kanter, Michael H

    2015-11-01

    Chronic kidney disease is highly prevalent but is challenging to diagnose because of the need to establish chronicity. Within the current healthcare environment, a single abnormal creatinine measurement often can go without a follow-up, which can lead to missed diagnoses or diagnostic errors. The Kaiser Permanente Southern California creatinine safety program (the Creatinine SureNet) was created to help ensure that all single abnormal creatinine results had a follow-up evaluation. In the period February 1, 2010, to March 1, 2014, the electronic health records were used to capture individuals with single abnormal creatinine results that went >90 days without a repeat measurement. A coordinated effort among a centralized regional nurse and providers was used to communicate with patients and order a repeat creatinine measurement. A total of 12,396 individuals were identified (84% ambulatory care encounters). A total of 6981 individuals (52%) followed up with a repeat measurement. Female patients, non-Hispanic whites, and older individuals were more likely to obtain a repeat measurement. Subsequently, 3668 individuals had chronic kidney disease confirmed. Within 6 months, 1550 patients had chart documentation of their chronic kidney disease and 336 patients had a nephrology consultation. The ambulatory care environment, given its high volume and various prioritizations, is an under-recognized area where diagnostic errors are not uncommon and failure to follow up on abnormal test results can occur routinely. The Kaiser Permanente Southern California Creatinine SureNet program leverages the electronic health records and its multidisciplinary resources in an effort to ensure that patients with potential chronic kidney disease are identified and managed properly. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. MANAGEMENT OF ENDOCRINE DISEASE: Acromegaly and pregnancy: a contemporary review.

    PubMed

    Abucham, Julio; Bronstein, Marcello D; Dias, Monike L

    2017-07-01

    Although fertility is frequently impaired in women with acromegaly, pregnancy is apparently becoming more common due to improvement in acromegaly treatment as well as in fertility therapy. As a result, several studies on pregnancy in patients with acromegaly have been published in recent years adding new and relevant information to the preexisting literature. Also, new GH assays with selective specificities and the knowledge of the expression of the various GH genes have allowed a better understanding of somatotrophic axis function during pregnancy. In this review, we show that pregnancy in women with acromegaly is generally safe, usually with tumoral and hormonal stability. Although the paucity of data limits evidence-based recommendations for preconception counseling and pregnancy surveillance, controlling tumor size and hormonal activity before pregnancy is highly recommended to ensure better outcomes, and surgical control should be attempted when feasible. Treatment interruption at pregnancy confirmation has also proven to be safe, as drugs are not formally allowed to be used during pregnancy. Drug exposure (somatostatin analogs) during early or whole pregnancy might increase the chance of a lower birth weight. Aggressive disease is uncommon and may urge individual decisions such as surgery or drug treatment during pregnancy or lactation. © 2017 European Society of Endocrinology.

  13. [Outcome of rapidly progressive glomerulonephritis post-streptococcal disease in children].

    PubMed

    Jellouli, Manel; Maghraoui, Sondos; Abidi, Kamel; Hammi, Yosra; Goucha, Rim; Naija, Ouns; Zarrouk, Chokri; Gargah, Tahar

    2015-11-01

    Rapidly progressive glomerulonephritis is a rare form of postinfectious glomerulonephritis. The aim of this study was to describe the outcome of our patients with severe post-streptococcal glomerulonephritis. This retrospective study was conducted in the department of pediatrics in Charles-Nicolle Hospital during a period of 13 years (1997-2009). Twenty-seven children were identified. The mean age was 8.7 years. All patients presented renal failure at presentation. The mean serum creatinine at presentation was 376.9 μmol/L. Six patients presented nephrotic syndrome. Twenty-six children had renal biopsies. Renal biopsies showed crescents in 24 cases. Eighteen children received pulse dose of corticosteroids (66.6%) and 6 children (22%) received pulse dose of corticosteroids and cyclophosphamide. Eleven patients required dialysis. At last follow-up, 22 patients (81.5%) had normal kidney function, 2 had renal dysfunction and 3 reached end stage renal disease. The only significant determinant for renal survival was the supportive dialysis (P=0.015). Rapidly progressive glomerulonephritis is uncommon. There have been significant advancements in supportive, as well as specific therapy, but the outcome continues to be poor. Copyright © 2015 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  14. A review of scoring systems for ocular involvement in chronic cutaneous bullous diseases.

    PubMed

    Lee, Brendon W H; Tan, Jeremy C K; Radjenovic, Melissa; Coroneo, Minas T; Murrell, Dedee F

    2018-05-22

    Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surface disease (OSD) may occur in both and require ophthalmological assessment. Disease scoring systems have a critical role in providing objective and accurate assessment of disease severity. The objectives of this report were, firstly, to document the prevalence and severity of ocular involvement in EB/AIBD. Secondly, to review and evaluate existing ocular and systemic scoring systems for EB/AIBD. Finally, to identify areas where further development of ocular specific tools in EB/AIBD could be pursued. A literature search was performed in October 2017 utilising Medline, Embase, and Scopus databases. The results were restricted by date of publication, between 01.01.1950 and 31.10.2017. The reference lists of these articles were then reviewed for additional relevant publications. Articles of all languages were included if an English translation was available. Articles were excluded if they were duplicates, had no reference to ocular involvement in EB/AIBD or described ocular involvement in other diseases. Descriptions of ocular involvement in EB/AIBD were identified in 88 peer-reviewed journal articles. Findings reported include but are not limited to: cicatrising conjunctivitis, meibomian gland dysfunction, dry eye disease, trichiasis, symblepharon, fornix fibrosis, keratopathy, ectropion/entropion, ankyloblepharon, corneal ulceration, visual impairment and blindness. Although scoring systems exist for assessment of OSD in mucous membrane pemphigoid, no such tools exist for the other AIBD subtypes or for EB. Several systemic scoring systems exist in the dermatological literature that are efficacious in grading overall EB/AIBD severity, but have limited inclusion of ocular features. To the best of our knowledge, there is no recognised or validated scoring systems

  15. Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?

    PubMed

    Veloso, Mariana P; Neves, Precil D M M; Jorge, Lectícia B; Dias, Cristiane B; Yu, Luis; Pinheiro, Rafaela B B; Testagrossa, Leonardo A; Malheiros, Denise M; Balbo, Bruno E P; Lerário, Antônio M; Onuchic, Luiz F; Woronik, Viktoria

    2017-01-01

    Alport syndrome (AS) is a disorder of collagen IV, a component of glomerular basement membrane (GBM). The association of AS and immunocomplex nephropathies is uncommon. This is a case of a 37-year-old woman with family history of X-linked AS, including 4 affected sons. This patient developed full-blown nephrotic syndrome along a 3-month period, a presentation not consistent with AS progression. This scenario suggested an alternative diagnosis. A kidney biopsy was therefore performed, showing membranous nephropathy (MN) in addition to GBM structural alterations compatible with AS. Whole exome sequencing also confirmed the diagnosis of X-linked AS, revealing a heterozygous pathogenic mutation in COL4A5. While a negative serum anti-phospholipase A2 receptor did not rule out a primary form of MN, it was also uncertain whether positive serologic tests for syphilis could represent a secondary factor. It is currently unknown whether this unusual association represents AS susceptibility to immunocomplex-mediated diseases or simply an association of 2 disorders. © 2017 S. Karger AG, Basel.

  16. Impact of tumor architecture on disease recurrence and cancer-specific mortality of upper tract urothelial carcinoma treated with radical nephroureterectomy.

    PubMed

    Fan, Bo; Hu, Bin; Yuan, Qingmin; Wen, Shuang; Liu, Tianqing; Bai, Shanshan; Qi, Xiaofeng; Wang, Xin; Yang, Deyong; Sun, Xiuzhen; Song, Xishuang

    2017-07-01

    Upper tract urinary carcinoma (UTUC) is a relatively uncommon but aggressive disease. Recent publications have assessed the prognostic significance of tumor architecture in UTUC, but there is still controversy regarding the significance and importance of tumor architecture on disease recurrence. We retrospectively reviewed the medical records of 101 patients with clinical UTUC who had undergone surgery. Univariate and multivariate analyses were conducted to identify factors associated with disease recurrence and cancer-specific mortality. As our single center study and the limited sample size may influence the clinical significance, we further quantitatively combined the results with those of existing published literature through a meta-analysis compiled from searching several databases. At a median follow-up of 41.3 months, 25 patients experienced disease recurrence. Spearman's correlation analysis showed that tumor architecture was found to be positively correlated with the tumor location and the histological grade. Kaplan-Meier curves showed that patients with sessile tumor architecture had significantly poor recurrence free survival (RFS) and cancer specific survival (CSS). Furthermore, multivariate analysis suggested that tumor architecture was independent prognostic factors for RFS (Hazard ratio, HR = 2.648) and CSS (HR = 2.072) in UTUC patients. A meta-analysis of investigating tumor architecture and its effects on UTUC prognosis was conducted. After searching PubMed, Medline, Embase, Cochrane Library and Scopus databases, 17 articles met the eligibility criteria for this analysis. The eligible studies included a total of 14,368 patients and combined results showed that sessile tumor architecture was associated with both disease recurrence with a pooled HR estimate of 1.454 and cancer-specific mortality with a pooled HR estimate of 1.416. Tumor architecture is an independent predictor for disease recurrence after radical nephroureterectomy for UTUC

  17. THERAPY OF ENDOCRINE DISEASE: Endocrine dilemma: management of Graves' orbitopathy.

    PubMed

    Campi, Irene; Vannucchi, Guia; Salvi, Mario

    2016-09-01

    Management of Graves' orbitopathy (GO) must be based on the correct assessment of activity and severity of the disease. Activity is usually assessed with the Clinical Activity Score, whereas severity is classified according to a European Group On Graves' Orbitopathy (EUGOGO) consensus statement as mild, moderate-to-severe, and sight-threatening. Myopathic and chronic congestive forms are uncommon clinical presentations of GO. Restoration and maintenance of stable euthyroidism are recommended in the presence of GO.In moderate-to-severe disease, steroids have been widely employed and have shown to possess an anti-inflammatory activity, but about 20-30% of patients are not responsive and present recurrence. Some novel immunosuppressors have already been employed in clinical studies and have shown interesting results, although the lack of randomized and controlled trials suggests caution for their use in clinical practice. Potential targets for therapy in GO are the thyroid-stimulating hormone and the insulin-like growth factor 1 receptor on the fibroblasts, inflammatory cytokines, B and T cells, and the PIK3/mTORC1 signaling cascades for adipogenesis. A recent open study has shown that tocilizumab, an anti-sIL-6R antibody, inactivates GO. Consistent reports on the efficacy of rituximab have recently been challenged by randomized controlled trials.As the main goal of treatment is the well-being of the patient, the therapeutic strategy should be addressed to better suit the patient needs, more than improving one or more biological parameters. The increasing availability of new therapies will expand the therapeutic options for GO patients and allow the clinician to really personalize the treatment to better suit the patients' personal needs. © 2016 European Society of Endocrinology.

  18. Gastrointestinal tract and liver graft-versus-host disease in pediatric patients with hematopoietic progenitor cell transplantation at a tertiary care center in Mexico.

    PubMed

    Jaramillo-Esparza, C M; Consuelo-Sánchez, A; Acosta-Rodríguez-Bueno, C P; Ramón-García, G; Sadowinski-Pine, S W; Escobar-Sánchez, M A; Castorena-Villa, I; Gaytán-Morales, F; Vázquez-Frias, R

    2018-02-24

    Graft-versus-host disease (GVHD) is a common multisystemic complication of allogeneic hematopoietic cell transplantation. The most frequent presentations of graft-versus-host disease involve the skin, the gastrointestinal tract, and the liver. The aim of the present study was to know the frequency of gastrointestinal tract and liver GVHD and the characteristics of disease presentation in pediatric patients that underwent hematopoietic stem cell transplantation (HSCT) at a tertiary care hospital center in Mexico City. A retrospective study was carried out, utilizing the case records of patients that underwent HSCT in 2015, to determine the frequency of GVHD in pediatric patients at a Mexican tertiary care hospital center. In 2015, 16 HSCT were performed, 11 of which were carried out in males (68%). Only 3 patients developed graft-versus-host disease (18.7%). One patient presented with skin and liver GVHD and 2 patients presented with gastrointestinal tract and liver GVHD, which was the most frequent type. HSCT is still an uncommon procedure in Mexico and there is a lower frequency of gastrointestinal tract and liver GVHD than that reported in other studies. Most certainly, there will be an increase in this type of patient and risk factors in the Mexican population must still be determined to help predict the onset of GVHD. Copyright © 2018 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.

  19. Dysphagia due to anterior cervical osteophytes--a case report.

    PubMed

    Kareem, B A; Sofiyan, M; Subramanian, S

    2000-09-01

    Dysphagia due to osteophytes in a young person is uncommon. We present a rare case of Forestier's disease causing dysphagia in a young lady without other bony involvement. The osteophytes were surgically removed and her symptoms resolved completely.

  20. Percutaneous Management of Systemic Fungal Infection Presenting As Bilateral Renal Fungal Ball

    PubMed Central

    Shukla, Abhishek; Shrivastava, Nitin; Singh, Chirom Amit

    2016-01-01

    Abstract Background: Zygomycoses are uncommon, frequently fatal diseases caused by fungi of the class Zygomycetes. The majority of human cases are caused by Mucorales (genus—rhizopus, mucor, and absidia) fungi. Renal involvement is uncommon and urine microscopy, pottasium hydroxide mount, and fungal cultures are frequently negative. Case Presentation: A twenty-one-year-old young unmarried lady presented to our emergency department with bilateral flank pain, fever, nausea, and decreased urine output of one-month duration. She was found to have azotemia with sepsis with bilateral hydronephrosis with a left renal pelvic obstructing stone. Even after nephrostomy drainage and broad spectrum antibiotics, her condition worsened. She developed disseminated fungal infection, and timely systemic antifungal followed by bilateral nephroscopic clearance saved the patient. Conclusion: Although renal fungal infections are uncommon, a high index of suspicion and early antifungal and surgical intervention can give favorable outcomes. PMID:27704055

  1. [Clinical and evolutive profile of Crohn's disease in Hospital Rebagliati (Lima-Peru)].

    PubMed

    Bendaño, Teófilo; Frisancho, Oscar

    2010-01-01

    Crohn's Disease (CD) is uncommon in Peru, in that respect, we don't know its clinical and developmental profile. This is a descriptive, retrospective, transversal and observational patients diagnosed with CD in the last 20 years in the Department of Gastroenterology, Hospital Nacional Edgardo Rebagliati Martins'. For the small size of the population, we used a census record. The diagnosis was made using the criteria of Lennard-Jones. We present seventeen cases, most female (11 / 6). The average age was 39.9 years (60% over 40 years). Only one patient had family history (second degree of consanguinity). Sixteen were latins and one white. Clinical manifestations were abdominal pain (88.2%), diarrhea (76.5%), weight loss (76, 5%), bleeding (58.8%) and fever (58.8%). Laboratory findings showed: anemia (76.5%), thrombocytosis (58.8%), hypoalbuminemia (52.9%), leukocytosis (23.5%), nitrogen retention (11.7%), leukopenia (5.9%), and elevated acute phase reactants ( c-reactive protein or erythrocyte sedimentation rate) 76.5%. Extraintestinal manifestations were cutaneous (29.4%), articular diseases (17.6%) and hepatobiliary (11.7%). Five patients (29.4%) received treatment of tuberculosis without success (before diagnosis). Nine patients (52.9%) had acute complications requiring emergency care. The phenotypic pattern type (Montreal's classification) was: non-stricturing non-penetrating 35.3%, stricturing 35.3% and penetrating 29.4%. Inflammation of the ileon was found in 70.5% (47% ileocolonic and ileal 23.5%), nine (53%) had perianal lesions. The activity at diagnosis was mild moderate disease in 8 (47.0%), moderate severe disease in 7 (41.2%) and severe ulminant 2 (11.8%). The macroscopic lesions were predominant stenosis 13 (76.5%), followed by ulcers in 12 (70.6%), erosive erythematous inflammation 11 (64.7%) and thickening of folds in 10 (58.8 %), seven (41%) had fistulas. As initial treatment were used aminosalicylates (13 patients) and systemic corticosteroids in 6

  2. Lupus nephritis: prolonged immunoadsorption (IAS) reduces proteinuria and stabilizes global disease activity.

    PubMed

    Stummvoll, Georg H; Schmaldienst, Sabine; Smolen, Josef S; Derfler, Kurt; Biesenbach, Peter

    2012-02-01

    Systemic lupus erythematosus (SLE) is characterized by pathogenic autoantibodies, which can be removed by extracorporeal procedures. While previous studies have shown short-term efficacy of immunoadsorption (IAS) in SLE, no information on long-term benefit and safety is available. IAS was offered to patients with highly active renal disease when conventional therapy had failed. Eleven patients entered the prolonged IAS programme and were followed for up to 10 years (mean 6.4 ± 3.5). Efficacy of IAS was determined by reduction in proteinuria (primary outcome), global disease activity [SLE Disease Activity Index (SLEDAI)] and anti-double-stranded DNA (anti-dsDNA) levels (secondary outcomes). Full/partial remission was defined as ≤ 0.5/≤ 1.0 g/day for proteinuria, ≤ 5/≤ 8 for SLEDAI and ≤ 25/≤ 50 IU/mL for anti-dsDNA levels. We further assessed flares, infections, malignancies and procedure-related adverse events. Short-term IAS (≤ 1 year) resulted in a significant reduction of proteinuria (9.2 ± 3.7 to 2.3 ± 2.4, P = 0.0001), disease activity (SLEDAI 19 ± 8 to 4 ± 2, P = 0.0004) and dsDNA levels (168 ± 205 to 45 ± 34, P = 0.001). In patients without remission after 1 year (n = 5), prolonged IAS decreased proteinuria from 4.3 ± 2.4 to 0.5 ± 0.4 g/day, P = 0.02. At the end of observation, complete remission in proteinuria was achieved in seven patients (64%) and partial remission in two (18%) additional patients. One patient flared and was discontinued; in all other patients, disease activity and anti-dsDNA stabilized at remission levels. Flares (0.28 ± 0.30) and infections (0.66 ± 0.70 per patient/year) were relatively uncommon; no malignancies, anaphylactic or orthostatic adverse events were observed. IAS is effective in short-term use but prolonged IAS can provide additional therapeutic benefit while showing an acceptable safety profile. The vast majority of initially therapy-refractory patients met the remission criteria at the end of

  3. Prevalence of celiac disease in Asia: A systematic review and meta-analysis.

    PubMed

    Singh, Prashant; Arora, Shubhangi; Singh, Alka; Strand, Tor A; Makharia, Govind K

    2016-06-01

    Celiac disease (CD) is emerging in Asia. While a few population-based studies from Asia have reported a prevalence of CD from 0.1% to 1.3%, the exact prevalence of CD in Asia is not known. We conducted a systematic review and meta-analysis to estimate the prevalence of CD in Asia. On search of literature, we found 1213 articles, of which 18 articles were included. Diagnosis of CD was based on European Society of Pediatric Gastroenterology, Hepatology and Nutrition guidelines. Pooled sero-prevalence of CD in Asia was 1.6% in 47 873 individuals based on positive anti-tissue transglutaminase and/or anti-endomysial antibodies. Pooled prevalence of biopsy proven CD in Asia was 0.5% in 43 955 individuals. The prevalence of CD among women was higher than in men (0.5% vs 0.4%, P = 0.04). The pooled prevalence of CD was 0.3% in Iran, 0.5% in Turkey, 0.6% in India, and 0.7% in Israel. The pooled prevalence of CD was significantly higher in Israel and India as compared with that in Iran. Celiac disease is not uncommon in Asia, and the sero-prevalence and prevalence of CD in Asia are 1.6% and 0.5%, respectively. The prevalence of CD varies with gender and geographic location. There is a need for population-based prevalence studies in many Asian countries to properly estimate the burden of CD in Asia. © 2015 Journal of Gastroenterology and Hepatology Foundation John Wiley & Sons Australia, Ltd.

  4. Current perspectives in the USA on the diagnosis and treatment of pelvic inflammatory disease in adolescents.

    PubMed

    Risser, William L; Risser, Jan M; Risser, Amanda L

    2017-01-01

    In this review, the epidemiology, diagnosis, and treatment of pelvic inflammatory disease (PID) are discussed from a USA perspective and the difficulties that USA adolescents face in recognizing and seeking care for PID and other sexually transmitted infections (STIs) are emphasized. Females aged 15-24 years have the highest incidence of cervical infection with Chlamydia trachomatis and Neisseria gonorrheae , the principal causes of PID. PID is common in this age group. However, the incidence of PID in the USA is not known, because it is not a reportable disease, and because clinicians vary in the criteria used for the diagnosis. The Centers for Disease Control and Prevention (CDC) recommended the following diagnostic criteria that include lower abdominal or pelvic pain and at least one of the following: adnexal tenderness or cervical motion tenderness or uterine tenderness. Because PID can have serious sequelae, the criteria emphasize sensitivity (few false-negatives) at the expense of specificity (some false-positives). Patients who have PID are usually treated in the outpatient setting, following the CDC's Guidelines for the Treatment of Sexually Transmitted Diseases 2015. They receive one dose of an intramuscular cephalosporin, together with 2 weeks of oral doxy cycline, and sometimes oral metronidazole. Improvement should usually be evident in 3 days. The USA does not offer comprehensive sex education for adolescents in public or private schools. Adolescents are unlikely to recognize the symptoms of PID and seek medical treatment. Confidentiality is important to adolescents, and low cost or free sources of confidential care are uncommon, making it unlikely that an adolescent would seek care even if she suspected an STI. The CDC has concluded that screening programs for chlamydia and gonorrhea infection help prevent PID; however, the lack of appropriate sources of care makes adolescents' participation in screening programs unlikely.

  5. Ulcerative colitis in a multiracial Asian country: racial differences and clinical presentation among Malaysian patients.

    PubMed

    Tan, Yan-Mei; Goh, Khean-Lee

    2005-10-07

    Inflammatory bowel disease appears to be uncommon among Asians. This study was conducted to determine the prevalence of ulcerative colitis (UC) in Malaysian patients and to establish the spectrum of the disease seen in Malaysian patients. Three major Asian races: Malay, Chinese, and Indian co-exist in Malaysia and we sought to determine if there were any racial differences in the prevalence and presentation of disease. Racial differences for several other gastrointestinal diseases have previously been observed and found to be extremely interesting. Data were obtained retrospectively from a review of the medical records of in- and out-patients with a diagnosis of UC at the University Hospital, Kuala Lumpur between 1985 and 1998. There were 45 confirmed cases of UC of which 3 were foreigners, who were excluded from analysis. Thirty new cases of UC were diagnosed during the study period. Their mean age at presentation was 33.0+/-10.0 years. The highest prevalence of UC was 17.9/100 000 hospital admissions in the Indians, followed by 11.2/100 000 hospital admissions in the Chinese. The lowest prevalence was 3.7/100 000 hospital admissions in the Malays. The prevalence of UC was significantly higher in the Indians and the Chinese when compared with the Malays with an OR of 4.89 (CI = 2.02-12.24; chi2 = 15.45, P<0.001) and 3.06 (CI = 1.24-7.78; chi2 = 6.30; P = 0.012) respectively. The extent of colonic disease was similar in the Malay and Indian patients. In contrast, distal or left-sided colitis predominated in the Chinese with an OR of 8.17 (95%CI = 1.31-64.87; chi2 = 5.53, P = 0.02). Extraintestinal manifestations were uncommon (11.9%). UC is an uncommon disease in Malaysia, but racial differences exist. The Indians had the highest prevalence of UC with the Chinese demonstrating the least extensive disease.

  6. Fungal infections in children in the early postoperative period after cardiac surgery for congenital heart disease: a single-centre experience.

    PubMed

    Jaworski, Radoslaw; Haponiuk, Ireneusz; Irga-Jaworska, Ninela; Chojnicki, Maciej; Steffens, Mariusz; Paczkowski, Konrad; Zielinski, Jacek

    2016-09-01

    Postoperative infections are still an important problem in cardiac surgery, especially in the paediatric population, and may influence the final outcome of congenital heart disease treatment. Postoperative infections with fungi are uncommon. The aetiology is poorly understood, and the proper diagnosis and treatment is unclear. In this single-centre study, the frequency of invasive fungal disease in children who underwent surgical management of congenital heart diseases was determined along with the risk factors for infection, treatment options and outcomes. All consecutive paediatric patients (<18 years of age) who underwent cardiac surgery for congenital heart disease between September 2008 and December 2015 in a paediatric cardiac centre in Poland were identified. Those who developed invasive fungal disease in the early postoperative period (30 days) were identified. Of the 1540 cardiosurgical procedures for congenital heart disease, 6 were complicated by fungal infection (0.39%). One patient had a high probability of fungal infection, but the diagnosis was unproved. Nevertheless, the patient was successfully treated with antifungal treatment. Five had proven invasive fungal disease. Of these, 3 were diagnosed with candidaemia. All had undergone cardiopulmonary bypass. Of the remaining 2 patients, 1 was a preterm newborn with complete atrioventricular septal defect who developed rib fungal invasion. The remaining patient had pulmonary atresia with ventricular septal defect and developed Fournier's gangrene after surgery. None of the patients died due to infection in the early postoperative period. However, the child with rib fungal invasion died 39 days after surgery as a result of multiorgan failure. Fungal infections in paediatric patients after cardiac surgery may markedly influence morbidity and mortality. Fungal infection prophylaxis in this specific group of children may reduce morbidity, whereas early empirical treatment followed by a targeted approach may

  7. Nutritional Status of Maintenance Dialysis Patients: Low Lean Body Mass Index and Obesity Are Common, Protein-Energy Wasting Is Uncommon.

    PubMed

    Koefoed, Mette; Kromann, Charles Boy; Juliussen, Sophie Ryberg; Hvidtfeldt, Danni; Ekelund, Bo; Frandsen, Niels Erik; Marckmann, Peter

    2016-01-01

    Maintenance dialysis patients are at increased risk of abnormal nutritional status due to numerous causative factors, both nutritional and non-nutritional. The present study assessed the current prevalence of protein-energy wasting, low lean body mass index and obesity in maintenance dialysis patients, and compared different methods of nutritional assessment. In a cross-sectional study conducted in 2014 at Roskilde Hospital, Denmark, we performed anthropometry (body weight, skinfolds, mid-arm, waist, and hip circumferences), and determined plasma albumin and normalized protein catabolic rate in order to assess the prevalence of protein-energy wasting, low lean body mass index and obesity in these patients. Seventy-nine eligible maintenance dialysis patients participated. The prevalence of protein-energy wasted patients was 4% (95% CI: 2-12) as assessed by the coexistence of low lean body mass index and low fat mass index. Low lean body mass index was seen in 32% (95% CI: 22-44). Obesity prevalence as assessed from fat mass index was 43% (95% CI: 32-55). Coexistence of low lean body mass index and obesity was seen in 10% (95% CI: 5-19). The prevalence of protein-energy wasting and obesity varied considerably, depending on nutritional assessment methodology. Our data indicate that protein-energy wasting is uncommon, whereas low lean body mass index and obesity are frequent conditions among patients in maintenance dialysis. A focus on how to increase and preserve lean body mass in dialysis patients is suggested in the future. In order to clearly distinguish between shortage, sufficiency and abundance of protein and/or fat deposits in maintenance dialysis patients, we suggest the simple measurements of lean body mass index and fat mass index.

  8. Optimization of Inflammatory Bowel Disease Cohort Studies in Asia.

    PubMed

    Leung, Wai K

    2015-07-01

    With the incidence of inflammatory bowel disease (IBD) increasing rapidly in many Asian countries, including Hong Kong, it is important that patient characteristics are better understood. For example, are the phenotypes, behaviors, complications, and even treatment responses found in Asian patients similar to those of their Western counterparts? To formally address these questions, a properly designed local cohort study is needed. Whilst IBD is still relatively uncommon in Asia, the establishment of a local IBD registry will significantly contribute to the answering of these questions. The Hong Kong IBD registry was established to fill the gap in the understanding of IBD patients, and to foster research into IBD in Hong Kong. The Hong Kong IBD registry is a territory-wide registry that includes all public hospitals in Hong Kong. We included all IBD patients who were currently receiving medical care at these hospitals. With the help of the central computer medical record system of the Hospital Authority of Hong Kong, all clinical events, medications usage, endoscopy records, and laboratory results of patients in the registry were captured. Apart from data collection, the registry is also establishing a bio-specimen bank of blood and stool samples of IBD patients for future research. The IBD registry is a very useful platform for population-based studies on IBD in Asia.

  9. Miscellaneous neurologic or neuromuscular disorders in horses.

    PubMed

    Aleman, Monica

    2011-12-01

    NMD is an important cause of morbidity in horses. Signs of dysfunction could be variable depending on the specific area affected. NM disease can go unrecognized if a thorough evaluation is not performed in diseased horses. Electrodiagnostic testing is an area that has the potential to document and improve our understanding of NM disease yet is uncommonly performed. Keeping an open and observant mind will enhance our ability to search and find answers.

  10. Mediastinal mass following chemotherapy in patients with Ewing sarcoma and osteosarcoma.

    PubMed

    Panadero, M A; Cruz, J J; Gomez, A; Fonseca, E; Garcia, M J; Garcia, J; Martin, G; Sanchez, P; Dueñas, G A

    1996-05-01

    Thymic hyperplasia following combination chemotherapy for malignant disease is very uncommon in adolescents and adults. Our experience includes a thymic enlargement noted on the sequential computed tomography (CT) in three patients who were disease-free after chemotherapy for Ewing sarcoma (2) and osteosarcoma (1). The development of an anterior mediastinal mass after successful chemotherapy does not always imply relapse of malignant disease. To prevent inappropriate treatment, the possibility of benign aetiology must be considered.

  11. Three cases of subcutaneous granuloma annulare of the penis: a rare presentation of a common disease.

    PubMed

    Toepfer, Nicholas J; Wessner, Scott R; Elston, Dirk M; Simmons, Jennifer; Sumfest, Joel M

    2011-09-01

    To describe three patients who presented to a single institution within four years of each other with isolated granuloma annulare of the penis. Granuloma annulare is an inflammatory disease of the dermis that can affect men of any age including childhood. Granuloma annulare of the penis is a remarkably uncommon presentation with only 12 cases previously reported. A retrospective review of pathologic records was conducted confirming three cases of penile granuloma annulare diagnosed at our institution. The three cases are described in detail including the history, presentation, histological findings and treatment of each patient. The clinical variants, characteristic histology, classic clinical presentation, differential diagnosis and recurrence following surgery of granuloma annulare are reviewed. We describe three individuals from a single institution with isolated granuloma annulare of the penis suggesting this condition is more common than previously thought. Patients with penile granuloma annulare may present to practicing urologists and it is important to be familiar with this idiopathic subcutaneous disorder in order to avoid unnecessary aggressive surgery. Copyright © 2011 Elsevier Inc. All rights reserved.

  12. Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression

    PubMed Central

    Tzeng, Jung-Ying; Zhang, Daowen; Pongpanich, Monnat; Smith, Chris; McCarthy, Mark I.; Sale, Michèle M.; Worrall, Bradford B.; Hsu, Fang-Chi; Thomas, Duncan C.; Sullivan, Patrick F.

    2011-01-01

    Genomic association analyses of complex traits demand statistical tools that are capable of detecting small effects of common and rare variants and modeling complex interaction effects and yet are computationally feasible. In this work, we introduce a similarity-based regression method for assessing the main genetic and interaction effects of a group of markers on quantitative traits. The method uses genetic similarity to aggregate information from multiple polymorphic sites and integrates adaptive weights that depend on allele frequencies to accomodate common and uncommon variants. Collapsing information at the similarity level instead of the genotype level avoids canceling signals that have the opposite etiological effects and is applicable to any class of genetic variants without the need for dichotomizing the allele types. To assess gene-trait associations, we regress trait similarities for pairs of unrelated individuals on their genetic similarities and assess association by using a score test whose limiting distribution is derived in this work. The proposed regression framework allows for covariates, has the capacity to model both main and interaction effects, can be applied to a mixture of different polymorphism types, and is computationally efficient. These features make it an ideal tool for evaluating associations between phenotype and marker sets defined by linkage disequilibrium (LD) blocks, genes, or pathways in whole-genome analysis. PMID:21835306

  13. Pneumomediastinum

    MedlinePlus

    Pneumomediastinum is uncommon. The condition can be caused by injury or disease. Most often, it occurs when air leaks from any part of the lung or airways into the mediastinum. Increased pressure in the lungs or airways may be caused ...

  14. Persistent scarring, atrophy, and dyspigmentation in a preteen girl with neonatal lupus erythematosus.

    PubMed

    High, Whitney A; Costner, Melissa I

    2003-04-01

    Neonatal lupus erythematosus is an uncommon autoimmune disease with distinctive cutaneous findings. Descriptions of chronic cutaneous sequelae are rare. We describe a 12-year-old girl with persistent dyspigmentation, scarring, and atrophy as a result of neonatal lupus occurring during infancy.

  15. A content analysis of cognitive and affective uses of patient support groups for rare and uncommon vascular diseases: comparisons of may thurner, thoracic outlet, and superior mesenteric artery syndrome.

    PubMed

    Walker, Kimberly K

    2015-01-01

    Rare disease patients are the predominant group of patients who are now connecting online to patient support groups, yet research on their uses of support groups has received little attention. This is a content analysis of three vascular diseases of differing degrees of rarity. Wall posts from Facebook patient support groups for May Thurner syndrome, thoracic outlet syndrome, and superior mesenteric artery syndrome were analyzed over a period of two years. Using Uses and Gratifications as the theoretical framework, the study purpose was to assess how variations in health condition and rarity of condition affect online support group user needs. Results indicated common main cognitive and affective uses across conditions, indicating a consistent pattern of needs communicated by all patients. However, there were nuanced differences in subcategories of cognitive and affective uses between the most and least rare disorders, which inform areas for tailored support mechanisms. Additionally, these vascular patients used their respective support groups primarily for cognitive reasons, especially for the rarest conditions, which informs of basic medical informational needs these patients face related to tests, treatment, surgery, and diagnoses.

  16. Obstructive Jaundice as an Uncommon Manifestation of Metastatic Breast Cancer.

    PubMed

    Budimir, Ivan; Sabol Pusic, Mateja; Nikolic, Marko; Dorosulic, Zdravko; Ljubicic, Neven; Stajduhar, Emil; Mise, Ivana; Vazdar, Ljubica; Sarcevic, Bozena

    2015-02-01

    Invasive ductal carcinoma is the most common type of breast cancer and accounts for about 70-85% of all invasive breast carcinomas. It primarily metastasizes to the bone, lungs, regional lymph nodes, liver and brain. Most of breast cancer recurrence occurs within the first 5 years of diagnosis, particularly for ER negative disease. Gastrointestinal tract involvement is very rare and is detected in only 10% of all the cases, and it usually derives from lobular breast cancer rather than the much more common cell type of ductal breast cancer. Early diagnosis is very important because it enables prompt and adequate choice of treatment and improves patient's long-term prognosis. In this report we describe an unusual case of obstructive jaundice caused by metastases from invasive ductal breast cancer to the lymph nodes of the hepatoduodenal ligament with extramural compression of the distal common bile duct and tumor invasion to the lumen of the duct. Our goal is to emphasize possible diagnostic pitfalls and increase the clinical awareness and the importance of intensive follow-up in patients with breast cancer, even years after the initial diagnosis.

  17. Mass Gatherings and Respiratory Disease Outbreaks in the United States - Should We Be Worried? Results from a Systematic Literature Review and Analysis of the National Outbreak Reporting System.

    PubMed

    Rainey, Jeanette J; Phelps, Tiffani; Shi, Jianrong

    2016-01-01

    Because mass gatherings create environments conducive for infectious disease transmission, public health officials may recommend postponing or canceling large gatherings during a moderate or severe pandemic. Despite these recommendations, limited empirical information exists on the frequency and characteristics of mass gathering-related respiratory disease outbreaks occurring in the United States. We conducted a systematic literature review to identify articles about mass gathering-related respiratory disease outbreaks occurring in the United States from 2005 to 2014. A standard form was used to abstract information from relevant articles identified from six medical, behavioral and social science literature databases. We also analyzed data from the National Outbreaks Reporting System (NORS), maintained by the Centers for Disease Control and Prevention since 2009, to estimate the frequency of mass gathering-related respiratory disease outbreaks reported to the system. We identified 21 published articles describing 72 mass gathering-related respiratory disease outbreaks. Of these 72, 40 (56%) were associated with agriculture fairs and Influenza A H3N2v following probable swine exposure, and 25 (35%) with youth summer camps and pandemic Influenza A H1N1. Outbreaks of measles (n = 1) and mumps (n = 2) were linked to the international importation of disease. Between 2009 and 2013, 1,114 outbreaks were reported to NORS, including 96 respiratory disease outbreaks due to Legionella. None of these legionellosis outbreaks was linked to a mass gathering according to available data. Mass gathering-related respiratory disease outbreaks may be uncommon in the United States, but have been reported from fairs (zoonotic transmission) as well as at camps where participants have close social contact in communal housing. International importation can also be a contributing factor. NORS collects information on certain respiratory diseases and could serve as a platform to monitor mass

  18. Torsade de pointes in a case of pheochromocytoma--an unusual presentation of an uncommon disease.

    PubMed

    Roshan, John; George, Oommen K; Vineet, S; George, Paul V; Jose, V Jacob

    2004-01-01

    We report the case of a middle aged lady with dilated cardiomyopathy, presenting with recurrent syncope due to torsade de pointes. Further evaluation revealed that she had a pheochromocytoma which caused the arrhythmia.

  19. Detection of uncommon G3P[3] rotavirus A (RVA) strain in rat possessing a human RVA-like VP6 and a novel NSP2 genotype.

    PubMed

    Ianiro, Giovanni; Di Bartolo, Ilaria; De Sabato, Luca; Pampiglione, Guglielmo; Ruggeri, Franco M; Ostanello, Fabio

    2017-09-01

    Rotavirus is one of the leading causes of acute gastroenteritis in infants and young children. RVAs infect not only humans but also a wide range of mammals including rats, which represent a reservoir of several other zoonotic pathogens. Due to the segmented nature of the RVA genome, animal RVA strains can easily adapt to the human host by reassortment with co-infecting human viruses. This study aims to detect and characterize RVA in the intestinal content of Italian sinantropic rats (Rattus rattus). Out of 40 samples examined following molecular approach, one resulted positive for RVA. The molecular characterization of VP1-4, 6 and 7, and NSP1-5 genes by sequencing revealed the genomic constellation G3-P[3]-I1-R11-C11-M10-A22-N18-T14-E18-H13. This uncommon genomic combination includes: the VP1-4,VP7, the NSP1, 3, 4 and 5 gene segments, closely related to those of RVA from rodents, the N18 novel genotype established for the NSP2 gene segment and the human Wa-like VP6 gene, suggesting interspecies reassortment. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Prevalence of electrocardiographic abnormalities in West-Asian and African male athletes.

    PubMed

    Wilson, M G; Chatard, J C; Carre, F; Hamilton, B; Whyte, G P; Sharma, S; Chalabi, H

    2012-04-01

    To evaluate the electrocardiographic (ECG) characteristics of West-Asian, black and Caucasian male athletes competing in Qatar using the 2010 recommendations for 12-lead ECG interpretation by the European Society of Cardiology (ESC). Cardiovascular screening with resting 12-lead ECG analysis of 1220 national level athletes (800 West-Asian, 300 black and 120 Caucasian) and 135 West-Asian controls was performed. Ten per cent of athletes presented with 'uncommon' ECG findings. Black African descent was an independent predictor of 'uncommon' ECG changes when compared with West-Asian and Caucasian athletes (p<0.001). Black athletes also demonstrated a significantly greater prevalence of lateral T-wave inversions than both West-Asian and Caucasian athletes (6.1% vs 1.6% and 0%, p<0.05). The rate of 'uncommon' ECG changes between West-Asian and Caucasian athletes was comparable (7.9% vs 5.8%, p>0.05). Seven athletes (0.6%) were identified with a disease associated with sudden death; this prevalence was two times higher in black athletes than in West-Asian athletes (1% vs 0.5%), and no cases were reported in Caucasian athletes and West-Asian controls. Eighteen West-Asian and black athletes were identified with repolarisation abnormalities suggestive of a cardiomyopathy, but ultimately, none were diagnosed with a cardiac disease. West-Asian and Caucasian athletes demonstrate comparable rates of ECG findings. Black African ethnicity is positively associated with increased frequencies of 'uncommon' ECG traits. Future work should examine the genetic mechanisms behind ECG and myocardial adaptations in athletes of diverse ethnicity, aiding in the clinical differentiation between physiological remodelling and potential cardiomyopathy or ion channel disorders.

  1. Clinical challenges of thyroid eye disease in HIV-positive patients on highly active antiretroviral therapy.

    PubMed

    Edmunds, Matthew R; Mellington, Faye; Ford, Rebecca L; Torlinska, Barbara; Manavi, Kaveh; Boelaert, Kristien

    2015-03-01

    Graves' disease (GD) as an immune reconstitution inflammatory syndrome during highly active antiretroviral therapy (HAART) for HIV has previously been reported. However, clinical challenges associated with HIV in the context of thyroid eye disease (TED) are not as well-characterized. To determine the frequency of coexisting HIV and TED, describe TED presentation and course in the context of HIV, and evaluate management difficulties as well as potential solutions. Cross-sectional study of all patients with coexisting GD and HIV at University Hospitals Birmingham (2003-2014). Retrospective case note review to identify TED with particular reference to HAART regimen, CD4+ T-cell count, HIV viral load, and TED activity and severity. Of 783 subjects with GD and 1186 with HIV, 11 were identified with both GD and HIV. Of these, three had clinical features of TED; each was of Afro-Caribbean origin, was in their fourth decade, and initially presented with undetectable CD4 T cells and high HIV viral loads. All went on to develop GD >3 years after commencing HAART, with normal CD4 count and undetectable viral load at the time of GD diagnosis. The full spectrum of TED was represented, with two subjects requiring orbital decompression surgery. TED in the context of HIV is uncommon. Many challenges exist in such patients, particularly HAART drug interactions with antithyroid and immunosuppressant medications. To better understand TED in HIV and to counsel patients with this copathology most effectively, future multicenter surveillance is required.

  2. Density of calcium in the ascending thoracic aorta and risk of incident cardiovascular disease events.

    PubMed

    Thomas, Isac C; McClelland, Robyn L; Michos, Erin D; Allison, Matthew A; Forbang, Nketi I; Longstreth, W T; Post, Wendy S; Wong, Nathan D; Budoff, Matthew J; Criqui, Michael H

    2017-10-01

    The volume and density of coronary artery calcium (CAC) both independently predict cardiovascular disease (CVD) beyond standard risk factors, with CAC density inversely associated with incident CVD after accounting for CAC volume. We tested the hypothesis that ascending thoracic aorta calcium (ATAC) volume and density predict incident CVD events independently of CAC. The Multi-Ethnic Study of Atherosclerosis (MESA) is a prospective cohort study of participants without clinical CVD at baseline. ATAC and CAC were measured from baseline cardiac computed tomography (CT). Cox regression models were used to estimate the associations of ATAC volume and density with incident coronary heart disease (CHD) events and CVD events, after adjustment for standard CVD risk factors and CAC volume and density. Among 6811 participants, 234 (3.4%) had prevalent ATAC and 3395 (49.8%) had prevalent CAC. Over 10.3 years, 355 CHD and 562 CVD events occurred. One-standard deviation higher ATAC density was associated with a lower risk of CHD (HR 0.48 [95% CI 0.29-0.79], p<0.01) and CVD (HR 0.56 [0.37-0.84], p<0.01) after full adjustment. ATAC volume was not associated with outcomes after full adjustment. ATAC was uncommon in a cohort free of clinical CVD at baseline. However, ATAC density was inversely associated with incident CHD and CVD after adjustment for CVD risk factors and CAC volume and density. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. The University's Uncommon Community

    ERIC Educational Resources Information Center

    Harris, Suzy

    2012-01-01

    In the UK, as elsewhere in the world, the global financial crisis has focused attention on the cost of public services and the need to reduce expenditure, not least in respect of higher education. This, however, raises a set of prior questions: What kind of society do we want? What is important to democratic society? What kind of higher education…

  4. An uncommon ankle sprain

    PubMed Central

    van Zoest, Wart J F; Janssen, Rob P A; Tseng, Carroll M E S

    2007-01-01

    Objective Ankle sprain is the most frequently occurring acute injury in tennis, accounting for 20–25% of all injuries. In the current paper, we assess the cause of ankle sprain and suggest possibilities to be considered during diagnosis. Methods We assessed a professional tennis player with a partial tear of the long peroneal tendon after an ankle sprain by physical exam, X‐ray and MRI. Results Conservative treatment by means of soft cast and propriocepsis training led to full recovery. Conclusion Peroneal tendon disorders must be part of the differential diagnosis after ankle sprain in the professional athlete. PMID:17957026

  5. An uncommon ankle sprain.

    PubMed

    van Zoest, Wart J F; Janssen, Rob P A; Tseng, Carroll M E S

    2007-11-01

    Ankle sprain is the most frequently occurring acute injury in tennis, accounting for 20-25% of all injuries. In the current paper, we assess the cause of ankle sprain and suggest possibilities to be considered during diagnosis. We assessed a professional tennis player with a partial tear of the long peroneal tendon after an ankle sprain by physical exam, X-ray and MRI. Conservative treatment by means of soft cast and propriocepsis training led to full recovery. Peroneal tendon disorders must be part of the differential diagnosis after ankle sprain in the professional athlete.

  6. Pediatric chronic pancreatitis is associated with genetic risk factors and substantial disease burden.

    PubMed

    Schwarzenberg, Sarah Jane; Bellin, Melena; Husain, Sohail Z; Ahuja, Monika; Barth, Bradley; Davis, Heather; Durie, Peter R; Fishman, Douglas S; Freedman, Steven D; Gariepy, Cheryl E; Giefer, Matthew J; Gonska, Tanja; Heyman, Melvin B; Himes, Ryan; Kumar, Soma; Morinville, Veronique D; Lowe, Mark E; Nuehring, Neil E; Ooi, Chee Y; Pohl, John F; Troendle, David; Werlin, Steven L; Wilschanski, Michael; Yen, Elizabeth; Uc, Aliye

    2015-04-01

    To determine the clinical presentation, diagnostic variables, risk factors, and disease burden in children with chronic pancreatitis. We performed a cross-sectional study of data from the International Study Group of Pediatric Pancreatitis: In Search for a Cure, a registry of children with acute recurrent pancreatitis and chronic pancreatitis. Between-group differences were compared using Wilcoxon rank-sum test. Among 170 subjects in the registry, 76 (45%) had chronic pancreatitis; 57% were female, 80% were white; median age at diagnosis was 9.9 years. Pancreatitis-predisposing genetic mutations were identified in 51 (67%) and obstructive risk factors in 25 (33%). Toxic/metabolic and autoimmune factors were uncommon. Imaging demonstrated ductal abnormalities and pancreatic atrophy more commonly than calcifications. Fifty-nine (77%) reported abdominal pain within the past year; pain was reported as constant and receiving narcotics in 28%. Children with chronic pancreatitis reported a median of 3 emergency department visits and 2 hospitalizations in the last year. Forty-seven subjects (70%) missed 1 day of school in the past month as the result of chronic pancreatitis; 26 (34%) missed 3 or more days. Children reporting constant pain were more likely to miss school (P = .002), visit the emergency department (P = .01), and experience hospitalizations (P = .03) compared with children with episodic pain. Thirty-three children (43%) underwent therapeutic endoscopic retrograde pancreatography; one or more pancreatic surgeries were performed in 30 (39%). Chronic pancreatitis occurs at a young age with distinct clinical features. Genetic and obstructive risk factors are common, and disease burden is substantial. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. PEDIATRIC CHRONIC PANCREATITIS IS ASSOCIATED WITH GENETIC RISK FACTORS AND SUBSTANTIAL DISEASE BURDEN

    PubMed Central

    Ahuja, Monika; Barth, Bradley; Davis, Heather; Durie, Peter R.; Fishman, Douglas S.; Freedman, Steven D.; Gariepy, Cheryl E.; Giefer, Matthew J.; Gonska, Tanja; Heyman, Melvin B.; Himes, Ryan; Kumar, Soma; Morinville, Veronique D.; Lowe, Mark E.; Nuehring, Neil E.; Ooi, Chee Y.; Pohl, John F.; Troendle, David; Werlin, Steven L.; Wilschanski, Michael; Yen, Elizabeth; Uc, Aliye

    2014-01-01

    Objective To determine the clinical presentation, diagnostic variables, risk factors and disease burden in children with chronic pancreatitis. Study design We performed a cross-sectional study of data from INSPPIRE (International Study Group of Pediatric Pancreatitis: In search for a cuRE), a registry of children with acute recurrent pancreatitis and chronic pancreatitis. Between-group differences were compared using Wilcoxon rank-sum test. Results Among 170 subjects in the registry, 76 (45%) had chronic pancreatitis; 57% were female, 80% were Caucasian, median age at diagnosis was 9.9 years. Pancreatitis-predisposing genetic mutations were identified in 51 (67%) and obstructive risk factors in 25 (33%). Toxic/metabolic and autoimmune factors were uncommon. Imaging demonstrated ductal abnormalities and pancreatic atrophy more commonly than calcifications. Fifty-nine (77%) reported abdominal pain within the past year; pain was reported as constant and receiving narcotics in 28%. Children with chronic pancreatitis reported a median of 3 emergency room visits and 2 hospitalizations in the last year. Forty-seven subjects (70%) missed one day of school in the past month due to chronic pancreatitis; 26 (34%) missed 3 or more days. Children reporting constant pain were more likely to miss school (p=0.002), visit emergency room (p=0.01) and experience hospitalizations (p=0.03) compared with children with episodic pain. Thirty-three children (43%) underwent therapeutic ERCP; one or more pancreatic surgeries were performed in 30 (39%). Conclusions Chronic pancreatitis occurs at a young age with distinct clinical features. Genetic and obstructive risk factors are common, and disease burden is substantial. PMID:25556020

  8. Mass Gatherings and Respiratory Disease Outbreaks in the United States – Should We Be Worried? Results from a Systematic Literature Review and Analysis of the National Outbreak Reporting System

    PubMed Central

    Rainey, Jeanette J.; Phelps, Tiffani; Shi, Jianrong

    2016-01-01

    Background Because mass gatherings create environments conducive for infectious disease transmission, public health officials may recommend postponing or canceling large gatherings during a moderate or severe pandemic. Despite these recommendations, limited empirical information exists on the frequency and characteristics of mass gathering-related respiratory disease outbreaks occurring in the United States. Methods We conducted a systematic literature review to identify articles about mass gathering-related respiratory disease outbreaks occurring in the United States from 2005 to 2014. A standard form was used to abstract information from relevant articles identified from six medical, behavioral and social science literature databases. We also analyzed data from the National Outbreaks Reporting System (NORS), maintained by the Centers for Disease Control and Prevention since 2009, to estimate the frequency of mass gathering-related respiratory disease outbreaks reported to the system. Results We identified 21 published articles describing 72 mass gathering-related respiratory disease outbreaks. Of these 72, 40 (56%) were associated with agriculture fairs and Influenza A H3N2v following probable swine exposure, and 25 (35%) with youth summer camps and pandemic Influenza A H1N1. Outbreaks of measles (n = 1) and mumps (n = 2) were linked to the international importation of disease. Between 2009 and 2013, 1,114 outbreaks were reported to NORS, including 96 respiratory disease outbreaks due to Legionella. None of these legionellosis outbreaks was linked to a mass gathering according to available data. Conclusion Mass gathering-related respiratory disease outbreaks may be uncommon in the United States, but have been reported from fairs (zoonotic transmission) as well as at camps where participants have close social contact in communal housing. International importation can also be a contributing factor. NORS collects information on certain respiratory diseases and could

  9. Exogenous lipoid pneumonia – a case report of a fire-eater

    PubMed Central

    Pielaszkiewicz-Wydra, Magdalena; Homola-Piekarska, Bożena; Szcześniak, Ewa; Ciołek-Zdun, Monika; Fall, Andrzej

    2012-01-01

    Summary Background: Exogenous lipoid pneumonia is an uncommon condition caused by inhalation or aspiration of a fatty substance. It usually presents as chronic respiratory illness mimicking interstitial lung diseases. Acute exogenous lipoid pneumonia is uncommon and typically is caused by an episode of aspiration of a large quantity of a petroleum-based product. Radiological findings vary and may imitate many other diseases. Case Report: We present a rare case of acute exogenous lipoid pneumonia in a fire-eater who aspirated liquid paraffin during his flame-blowing show (fire-eater’s lung). He was admitted to the hospital with productive cough, fever, hemoptysis, chest pain and dyspnea. Diagnosis was made on the basis of history of exposure to fatty substance, characteristic findings in CT examination and presence of lipid-laden macrophages in bronchoalveolar lavage fluid. Conclusions: Acute exogenous lipoid pneumonia is a very rare disease that typically occurs in fire-eaters and is called a fire-eater’s lung. The diagnosis is made on the basis of typical history and radiological, as well as histopathological findings. PMID:23269939

  10. Therapeutic drug monitoring of vedolizumab in inflammatory bowel disease: current data and future directions.

    PubMed

    Ward, Mark G; Sparrow, Miles P; Roblin, Xavier

    2018-01-01

    The introduction of vedolizumab, a lymphocyte adhesion inhibitor, has expanded the relatively limited therapeutic armamentarium available for Crohn's disease and ulcerative colitis. Despite its effectiveness, both primary nonresponse and secondary loss of response to vedolizumab do occur, as is observed with the use of anti-tumour necrosis factor (TNF) therapy. Further, in a proportion, onset of efficacy may be relatively slow. A large body of data support an exposure-response relationship with anti-TNF drug levels, which has led to therapeutic drug monitoring becoming incorporated into everyday clinical management. The influence of patient and disease factors on the pharmacokinetics of anti-TNF levels, including immunogenicity, has also been examined. The role of therapeutic drug monitoring with vedolizumab is less clear. This review summarizes the available evidence on the pharmacokinetics and pharmacodynamics of vedolizumab in inflammatory bowel disease and how drug levels, immunogenicity and other factors influence clinical outcomes. Vedolizumab clearance is increased with very high body weight and hypoalbuminaemia, but is not influenced by the addition of an immunomodulator. Immunogenicity is uncommon. α4β7 receptor saturation occurs at low serum vedolizumab drug levels, and measuring it alone is insufficient to predict clinical outcomes. Using quartile analysis of vedolizumab drug levels, there appears to be a modest exposure-response relationship during induction. Drug levels at week 6 of approximately >20 μg/ml have been shown to be associated with improved clinical outcomes, including subsequent mucosal healing rates during maintenance and avoiding the need to dose escalate due to lack of response. There are currently insufficient data to support the routine use of therapeutic drug monitoring during maintenance therapy. Further studies to elucidate the role of therapeutic drug monitoring of vedolizumab are needed.

  11. Elevated blood lipids are uncommon in patients with post-polio syndrome--a cross sectional study.

    PubMed

    Melin, Eva; Kahan, Thomas; Borg, Kristian

    2015-04-29

    The post-polio syndrome occurs in people who previously have had poliomyelitis. After the initial recovery, new or increasing neurologic symptoms occur. Inflammation and dyslipidaemia may play an important role in the development of atherosclerotic complications, for example myocardial infarction and angina pectoris. Previous studies on cardiovascular risk factors in the post-polio syndrome have found a higher prevalence of hypertension, ischemic heart disease, hyperlipidaemia, and stroke in these patients. The present study was undertaken in order to evaluate whether post-polio patients have elevated lipid values, and if blood lipid abnormalities could be correlated to signs of inflammation. Cross-sectional study of 89 consecutive post-polio patients, (53 women, mean age 65 years) from the Post-Polio Outpatient Clinic, Danderyd University Hospital, Stockholm, Sweden. The lipid profiles of post-polio patients were compared to age and sex matched reference values from two earlier studies. Statistical analyses were performed by the Student's t-test, and linear regression analyses were assessed by Pearson's correlation coefficient. Mean total cholesterol levels (5.7 mmol/L) were low or normal in post-polio patients, whereas low density lipoprotein levels (3.6 mmol/L) were normal, and high density lipoprotein (1.5 mmol/L) and triglycerides (1.4 mmol/L) lower than reference values. The prevalence of diabetes (7%), hypertension (38%), concomitant cardiovascular disease, (including angina pectoris, myocardial infarction, heart failure, atrial fibrillation and stroke) (7%), and calculated 10 year risk of coronary heart disease according to Framingham risk score algorithm (8%) was not increased in post-polio patients. Compared to reference populations, post-polio patients in Sweden appear to have low or normal total cholesterol and low density lipoprotein levels, whereas high density lipoprotein and triglyceride levels are low. Hence, a possible persisting inflammatory

  12. Recurrence of primary extramedullary plasmacytoma in breast both simulating primary breast carcinoma

    PubMed Central

    Kaviani, Ahmad; Djamali-zavareie, Mansoor; Noparast, Maryam; Keyhani-Rofagha, Sedigheh

    2004-01-01

    Background Extramedullary myelomas (plasmacytoma) are malignant proliferations of plasma cells in the absence of bone involvement. When they occur in the soft tissue they usually involve the upper respiratory tract and oral cavity. Extramedullary plasmacytomas of breast are uncommon. Case presentation A 70 year-old woman with bilateral breast masses underwent excisional biopsy for suspected primary carcinoma that subsequently proved to be a recurrence from extramedullary plasmacytoma of the mediastinum. This was diagnosed and treated 5-years prior to appearance of breast lumps. Conclusion Though uncommon, considering the possibility of metastatic carcinoma and primary, secondary or recurrent lymphoproliferative disease presenting as a breast mass may avoid unnecessary surgeries. PMID:15339332

  13. Epidural mass due to aspergillus flavus causing spinal cord compression--a case report and brief update.

    PubMed

    Tendolkar, U; Sharma, A; Mathur, M; Ranadive, N; Sachdev, M

    2005-07-01

    Aspergillus infection of the central nervous system (CNS) is an uncommon disease. Most of the reported cases are of sinocranial spread and cases with contiguous spread to spinal cord from lung and other organs are uncommon. A case of pulmonary aspergillosis with extension to thoracic vertebrae forming a paraspinal mass resulting in neurological deficit due to Aspergillus flavus, is reported. The 43 year old patient did not have any obvious predisposing condition. He presented with loss of motor function and succumbed to the infection despite operative intervention and antifungal therapy. A brief update on CNS aspergillosis is presented along with detailed clinical, radiological and laboratory work up of the patient.

  14. Nutritional Status of Maintenance Dialysis Patients: Low Lean Body Mass Index and Obesity Are Common, Protein-Energy Wasting Is Uncommon

    PubMed Central

    Koefoed, Mette; Kromann, Charles Boy; Juliussen, Sophie Ryberg; Hvidtfeldt, Danni; Ekelund, Bo; Frandsen, Niels Erik; Marckmann, Peter

    2016-01-01

    Background and Aims Maintenance dialysis patients are at increased risk of abnormal nutritional status due to numerous causative factors, both nutritional and non-nutritional. The present study assessed the current prevalence of protein-energy wasting, low lean body mass index and obesity in maintenance dialysis patients, and compared different methods of nutritional assessment. Methods In a cross-sectional study conducted in 2014 at Roskilde Hospital, Denmark, we performed anthropometry (body weight, skinfolds, mid-arm, waist, and hip circumferences), and determined plasma albumin and normalized protein catabolic rate in order to assess the prevalence of protein-energy wasting, low lean body mass index and obesity in these patients. Results Seventy-nine eligible maintenance dialysis patients participated. The prevalence of protein-energy wasted patients was 4% (95% CI: 2–12) as assessed by the coexistence of low lean body mass index and low fat mass index. Low lean body mass index was seen in 32% (95% CI: 22–44). Obesity prevalence as assessed from fat mass index was 43% (95% CI: 32–55). Coexistence of low lean body mass index and obesity was seen in 10% (95% CI: 5–19). The prevalence of protein-energy wasting and obesity varied considerably, depending on nutritional assessment methodology. Conclusions Our data indicate that protein-energy wasting is uncommon, whereas low lean body mass index and obesity are frequent conditions among patients in maintenance dialysis. A focus on how to increase and preserve lean body mass in dialysis patients is suggested in the future. In order to clearly distinguish between shortage, sufficiency and abundance of protein and/or fat deposits in maintenance dialysis patients, we suggest the simple measurements of lean body mass index and fat mass index. PMID:26919440

  15. Wolf in Sheep's Clothing: Primary Lung Cancer Mimicking Benign Entities.

    PubMed

    Snoeckx, Annemie; Dendooven, Amélie; Carp, Laurens; Desbuquoit, Damien; Spinhoven, Maarten J; Lauwers, Patrick; Van Schil, Paul E; van Meerbeeck, Jan P; Parizel, Paul M

    2017-10-01

    Lung cancer is the most common cancer worldwide. On imaging, it typically presents as mass or nodule. Recognition of these typical cases is often straightforward, whereas diagnosis of uncommon manifestations of primary lung cancer is far more challenging. Lung cancer can mimic a variety of benign entities, including pneumonia, lung abscess, postinfectious scarring, atelectasis, a mediastinal mass, emphysema and granulomatous diseases. Correlation with previous history, clinical and biochemical parameters is necessary in the assessment of these cases, but often aspecific and inconclusive. Whereas 18 F-fluorodeoxyglucose ( 18 F-FDG) Positron Emission Tomography is the cornerstone in staging of lung cancer, its role in diagnosis of these uncommon manifestations is less straightforward since benign entities can present with increased 18 F-FDG-uptake and, on the other hand, a number of these uncommon lung cancer manifestations do not exhibit increased uptake. Chest Computed Tomography (CT) is the imaging modality of choice for both lesion detection and characterization. In this pictorial review we present the wide imaging spectrum of CT-findings as well as radiologic-pathologic correlation of these uncommon lung cancer manifestations. Knowledge of the many faces of lung cancer is crucial for early diagnosis and subsequent treatment. A multidisciplinary approach in these cases is mandatory. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Mask face: bilateral simultaneous facial palsy in an 11-year-old boy.

    PubMed

    Güngör, Serdal; Güngör Raif, Sabiha; Arslan, Müjgan

    2013-04-01

    Bilateral facial paralysis is an uncommon clinical entity especially in the pediatric age group and occurs frequently as a manifestation of systemic disease. The most important causes are trauma, infectious diseases, neurological diseases, metabolic, neoplastic, autoimmune diseases and idiopathic disease (Bell's palsy). We report a case of an 11-year-old boy presenting with bilateral simultaneous peripheral facial paralysis. All possible infectious causes were excluded and the patient was diagnosed as having Bell's palsy (idiopathic). The most important approach in these cases is to rule out a life-threatening disease. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

  17. Subchondral pseudocysts in rheumatoid arthritis.

    PubMed

    Rennell, C; Mainzer, F; Multz, C V; Genant, H K

    1977-12-01

    Subchondral cyst formation (geode) is a not uncommon manifestation of rheumatoid arthritis which may at times impede correct radiologic interpretation. Four patients with rheumatoid arthritis who demonstrated striking subarticular cystic erosive disease are described. These cases emphasize the nature and appearance of this interesting finding.

  18. Genotype-phenotype relations for the Parkinson's Disease genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

    PubMed

    Kasten, Meike; Hartmann, Corinna; Hampf, Jennie; Schaake, Susen; Westenberger, Ana; Vollstedt, Eva-Juliane; Balck, Alexander; Domingo, Aloysius; Vulinovic, Franca; Dulovic, Marija; Zorn, Ingo; Madoev, Harutyun; Zehnle, Hanna; Lembeck, Christina M; Schawe, Leopold; Reginold, Jennifer; Huang, Jana; König, Inke R; Bertram, Lars; Marras, Connie; Lohmann, Katja; Lill, Christina M; Klein, Christine

    2018-04-11

    This first comprehensive MDSGene review is devoted to the 3 autosomal recessive Parkinson's disease forms: PARK-Parkin, PARK-PINK1, and PARK-DJ1. It followed MDSGene's standardized data extraction protocol and screened a total of 3652 citations and is based on fully curated phenotypic and genotypic data on >1100 patients with recessively inherited PD because of 221 different disease-causing mutations in Parkin, PINK1, or DJ1. All these data are also available in an easily searchable online database (www.mdsgene.org), which also provides descriptive summary statistics on phenotypic and genetic data. Despite the high degree of missingness of phenotypic features and unsystematic reporting of genotype data in the original literature, the present review recapitulates many of the previously described findings including early onset (median age at onset of ∼30 years for carriers of at least 2 mutations in any of the 3 genes) of an overall clinically typical form of PD with excellent treatment response, dystonia and dyskinesia being relatively common and cognitive decline relatively uncommon. However, when comparing actual data with common expert knowledge in previously published reviews, we detected several discrepancies. We conclude that systematic reporting of phenotypes is a pressing need in light of increasingly available molecular genetic testing and the emergence of first gene-specific therapies entering clinical trials. © 2018 International Parkinson and Movement Disorder Society. © 2018 International Parkinson and Movement Disorder Society.

  19. An uncommon cause of tricuspid regurgitation: three-dimensional echocardiographic incremental value, surgical and genetic insights.

    PubMed

    Theron, Alexis; Pinard, Amélie; Riberi, Alberto; Zaffran, Stéphane

    2016-07-01

    Congenital tricuspid valve disease is a rare defect that includes regurgitation, stenosis and Ebstein's anomaly. We report a case of severe tricuspid regurgitation associated with functional mitral regurgitation in a 47-year-old man with congestive heart failure. Transthoracic echocardiography (TTE) ruled out any Ebstein's anomaly. Three-dimensional TTE revealed a 'tricuspid hole' into the anterior leaflet that was only attached to the tricuspid annulus next to both anteroseptal and anteroposterior commissures. There was no sign of leaflet tear or perforation. The surgical repair of the tricuspid and mitral valves was performed with an optimal result. No sign of endocarditis or rheumatic disease was observed during the intervention. Sequence analysis of GATA4, HEY2 and ZFPM2 genes was performed, but no causative mutation was identified. © The Author 2015. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  20. Renal Lymphoma: Primary or First Manifestation of Aggressive Pediatric B-cell Lymphoma.

    PubMed

    Coca, Pragnya; Linga, Vijay Gandhi; Gundeti, Sadashivudu; Tandon, Ashwani

    2017-01-01

    Renal lymphoma is an uncommon renal tumor in children. Unlike renal lymphomas presenting as bilateral disease and renal failure, we report a boy who presented with unilateral renal involvement. After initial nephrectomy, he achieved remission with multiagent chemotherapy but relapsed systemically within 3 months. He was initiated on salvage chemotherapy with autologous bone marrow transplant. Even though the initial manifestation was localized lymphoma eventually, it turned out to be a systemic disease. He succumbed to disease at 14 months from diagnosis.