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Sample records for schamberg disease uncommon

  1. Aminaphtone in the control of Schamberg's disease

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    de Godoy José

    2009-06-01

    Full Text Available Abstract The aim of this case report is to describe control of Schamberg's disease using aminaphtone. We report on the case of a 28-year-old patient who presented with multiple purpuric lesions of the lower extremities which had appeared spontaneously. A biopsy of the skin was performed that showed a perivascular T-cell lymphocytic infiltrate centered on the small superficial blood vessels of the skin and so a diagnosis of Schamberg's disease was reached. The patient was prescribed corticoids and the lesions disappeared however on suspension of the medication the lesions re-emerged within three to seven days. This treatment was unsuccessfully continued for more than one year. Thus another therapeutic option was attempted: 75 mg of aminaphtone was prescribed twice daily for one month and the purpuric lesions disappeared within about one week. One year after suspending the medication no relapse of the purpura was observed.

  2. Uncommon Presentation Of Bowen′s Disease

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    Dawn Goutam

    1995-01-01

    Full Text Available Bowen’s disease is desired as persistent, progressive, non- elevated, red scarry or crusted plaque, which is due to an intraepidermal carcinoma and is potentially malignant. Sunlight is considered as an important aetiological factor. In the past; arsenic exposure was also said to be important 1. The curaneous lesion of Bowen’s disease can sometimes be hyperkeratotic or fissured 2. Morphology can vary depending on site of involvement.

  3. An Uncommon Feature of Chronic Granulomatous Disease in a Neonate

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    Razieh Afrough

    2016-01-01

    Full Text Available Chronic Granulomatous Disease (CGD represents recurrent life-threatening bacterial and fungal infections and granuloma formation with a high mortality rate. CGD’s sign and symptoms usually appear in infancy and children before the age of five; therefore, its presentation in neonatal period with some uncommon features may be easily overlooked. Here we describe a case of CGD in a 24-day-old boy, presenting with a diffuse purulent vesiculopustular rash and multiple osteomyelitis.

  4. Graves’ disease as an uncommon cause of acute pericarditis

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    Kortekaas, Kirsten; van der Lienden, Bas; Jong, Simone; Riezebos, Robert

    2014-01-01

    Acute pericarditis is either dry, fibrinous or effusive, independent of its aetiology. A case is presented involving a 44-year-old man with acute pericarditis. The cause was established to be an aggravation of Graves’ disease due to non-compliance with treatment. Pericarditis is an uncommon cardiac complication of Graves’ disease and is associated with more recurrent episodes when not detected. Pharmacological treatment should include anti-inflammatory drugs in combination with treatment for hyperthyroidism. The specific pathophysiological link between the two conditions is still to be elucidated. PMID:24769665

  5. An uncommon presentation of an uncommon disease: relapsing polychondritis overlap with systemic lupus erythematosus.

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    Nguyen, Michelle A; Rahnama-Moghadam, Sahand; Gilson, Robert T

    2016-02-17

    Relapsing polychondritis (RP) is a rare rheumatologic disorder in which recurrent episodes of inflammation result in destruction of cartilage of the ears and nose. The joints, eyes, audio-vestibular system, heart valves, respiratory tract, kidneys, and skin can also be involved. Skin involvement is most frequently linked to concomitant myelodysplastic syndrome and has rarely been associated with systemic lupus erythematosus. A 47-year-old woman presented with violaceous, indurated, tender plaques on the bilateral cartilaginous ears with sparing of the lobes, consistent with RP. Further investigations revealed positive ANA and anti-Smith antibody, oral ulcers, a photo-distributed skin eruption, and biopsy-proven lupus nephritis, leading to a second concomitant diagnosis of systemic lupus erythematosus (SLE). The diagnosis of SLE associated with RP was made and the patient was started on oral prednisone and hydroxychloroquine. This is a rare report of SLE associated with RP. It is unclear whether RP occurring in patients with SLE represents another clinical manifestation of SLE or a coexisting disease. However, a significant ANA titer in a patient with RP strongly suggests the presence of an associated autoimmune disorder. If immunologic abnormalities usually found in SLE are detected in patients with RP, it is important to monitor patients for the development of other manifestations of SLE.

  6. Just a sore throat? Uncommon causes of significant respiratory disease

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    Wahab, Dalia; Bichard, Julia; Shah, Anand; Mann, Bhupinder

    2013-01-01

    We present two uncommon underlying causes of a sore throat which, if missed or delayed in diagnosis, can lead to disastrous consequences. Our first case is of Lemierre's syndrome diagnosed in a 21-year-old man presenting with a 5-day history of sore throat, fever, right-sided pleuritic chest pain and bilateral pulmonary nodules on CT imaging. Fusobacterium necrophorum cultured from peripheral blood and an occluded left internal jugular vein on ultrasound lead to an eventual diagnosis. Our second case presents a 29-year-old woman with a 5-day history of sore throat, fever and right-sided pleuritic chest pain. A left-sided quinsy was diagnosed and aspirated and the patient was discharged home. She represented shortly with worsening pleuritic pain and was found to have a right-sided pleural effusion with descending mediastinitis originating from the tonsillar abscess. Delayed diagnosis resulted in open thoracotomy, decortication and prolonged intravenous antibiotics. PMID:23632177

  7. Barrett's esophagus-related diseases remain uncommon in China.

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    Huang, Qin; Fang, Dian Chun; Yu, Cheng Gong; Zhang, Jun; Chen, Min Hu

    2011-12-01

    Barrett's esophagus (BE)-related esophageal adenocarcinoma (EAC) has shown the fastest rise in incidence in Western countries; however, research data on BE-related diseases from China are inconclusive. We aimed to review and analyze the published results on these diseases in China. We searched PubMed and Chinese medical literature for key words: BE, EAC, Chinese and China. Relevant research papers along with the study results from our own groups were reviewed and analyzed. Using standardized criteria, columnar-lined esophagus (CLE) was found in as many as 29% of resection specimens in Chinese patients with proximal gastric cancer. However, BE with intestinal metaplasia was rare, ranging from 0.06% in the general population to disease and tobacco or alcohol abuse, but not male gender or obesity. At endoscopy, most CLE/BE were diseases, except for CLE, are rare in China. The clinical significance and malignant potential of CLE in the Chinese population remain elusive. Further investigation on these diseases is in progress. © 2011 The Authors. Journal of Digestive Diseases © 2011 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and Blackwell Publishing Asia Pty Ltd.

  8. Syphilitic hepatitis: An uncommon manifestation of a common disease

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    Sukriti Baveja

    2014-01-01

    Full Text Available Hepatitis being first manifestation of secondary syphilis is rare. Here in we report a case of 39 years old male who was being treated for hepatitis and presented to us subsequently with itchy maculopapular rash. Venereal disease research laboratory (VDRL titre was 1:16. Treponema pallidum hemagglutination assay (TPHA was positive. He was treated with intramuscular Benzathine Penicillin. His hepatitis improved rapidly.

  9. Bartonella henselae Infection: An Uncommon Mimicker of Autoimmune Disease

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    Maritsi, Despoina N.; Zarganis, Diagoras; Metaxa, Zoi; Papaioannou, Georgia; Vartzelis, George

    2013-01-01

    We present a case of a seven-year-old immunocompetent female patient who developed systemic symptoms mimicking an autoimmune rather than an infectious disease. The patient presented with rash, biquotidian fever, night sweats, and arthralgias. There was no antecedent history of cat contact. Investigations showed increased inflammatory markers, leukocytosis, thrombocytosis, hypercalcemia, and raised angiotensin-converting enzyme. Interferon-gamma releasing assay for tuberculosis infection was negative. Abdominal imaging demonstrated multifocal lesions of the liver and spleen (later proved to be granulomata), chest X-ray showed enlarged hilar lymph nodes, and ophthalmology review revealed uveitis. Clinical, laboratory, and imaging features pointed towards sarcoidosis. Subsequently, raised titers (IgM 1 : 32, IgG 1 : 256) against Bartonella confirmed the diagnosis of B. henselae infection. She was treated with gentamycin followed by ciprofloxacin; repeat investigations showed complete resolution of findings. The presence of hepatic and splenic lesions in children with bartonellosis is well documented. Our case, however, exhibited certain unusual findings such as the coexistence of acute ocular and systemic involvement in an immunocompetent host. Serological testing is an inexpensive and effective way to diagnose bartonellosis in immunocompetent patients; we suggest that bartonella serology is included in the baseline tests performed on children with prolonged fever even in the absence of contact with cats in countries where bartonellosis is prevalent. PMID:23424700

  10. Bartonella henselae Infection: An Uncommon Mimicker of Autoimmune Disease

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    Despoina N. Maritsi

    2013-01-01

    Full Text Available We present a case of a seven-year-old immunocompetent female patient who developed systemic symptoms mimicking an autoimmune rather than an infectious disease. The patient presented with rash, biquotidian fever, night sweats, and arthralgias. There was no antecedent history of cat contact. Investigations showed increased inflammatory markers, leukocytosis, thrombocytosis, hypercalcemia, and raised angiotensin-converting enzyme. Interferon-gamma releasing assay for tuberculosis infection was negative. Abdominal imaging demonstrated multifocal lesions of the liver and spleen (later proved to be granulomata, chest X-ray showed enlarged hilar lymph nodes, and ophthalmology review revealed uveitis. Clinical, laboratory, and imaging features pointed towards sarcoidosis. Subsequently, raised titers (IgM 1 : 32, IgG 1 : 256 against Bartonella confirmed the diagnosis of B. henselae infection. She was treated with gentamycin followed by ciprofloxacin; repeat investigations showed complete resolution of findings. The presence of hepatic and splenic lesions in children with bartonellosis is well documented. Our case, however, exhibited certain unusual findings such as the coexistence of acute ocular and systemic involvement in an immunocompetent host. Serological testing is an inexpensive and effective way to diagnose bartonellosis in immunocompetent patients; we suggest that bartonella serology is included in the baseline tests performed on children with prolonged fever even in the absence of contact with cats in countries where bartonellosis is prevalent.

  11. The role of an uncommon type of oral streptococcus sanguis in the etiology of behcet's disease.

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    Tsuchida, M; Mineshita, S; Okonogi, H; Sugimori, K; Hoshi, K; Horiuchi, T; Wang, L M; Fujimoto, E K

    1997-07-01

    The relationships of Behcet's disease (BD) with oral diseases and the prevalence of an uncommon type of oralStreptococcus sanguis (Str. sanguis) in the oral cavity were investigated in a case-control study. BD patients were compared to patient controls (collagen disease) and healthy controls.An interview questionnaire survey of BD and oral diseases showed that during the pre-onset, onset, and post-onset periods, the incidences of tonsillitis and dental caries, or the history of dental treatment, were greater in BD cases. Typological analysis showed a higher prevalence of an uncommon type ofStr. sanguis, differing from the common type, among BD cases compared to control groups. These results, showing a higher incidence of tonsillitis and dental caries during the presymptomatic period, a greater frequency of dental treatments during the symptomatic period, and the presence of an uncommon type ofStr. sanguis, indicate thatStr. sanguis of an uncommon type is related to increased risk of BD, and the possibility of a causal role is suggested.

  12. Pneumonitis in Adult Onset Still’s Disease: Uncommon or Under Diagnosed?

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    Silvia Fernandes

    2017-08-01

    Full Text Available 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.

  13. Acute calcific tendonitis of dorsal interosseous muscles of the hand: uncommon site of a frequent disease

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    D. Schneider

    2017-05-01

    Full Text Available Acute calcific tendinopathy is one of the manifestations of hydroxyapatite crystal deposition disease. While it is more frequent in the shoulder, it has been described in virtually all areas of the body, but rarely in the muscles of the hand. Its etiopathogenesis is not yet fully understood and despite being a fairly frequent condition, it is commonly misdiagnosed. The onset of the disease is usually acute and resolves spontaneously. Acute calcific tendinitis of the interosseous tendons of the hand is an uncommon site of a frequent condition. The clinical presentation is similar to other entities, thus errors in diagnosis frequently occur, resulting in over-treatment or unnecessary tests. We describe a case of acute calcific tendinitis of the interosseous muscles of the hand with a brief review of the current literature with emphasis on diagnostic imaging methods.

  14. Proposal for an algorithm for liver transplantation in Caroli's disease and syndrome: putting an uncommon effort into a common task.

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    Lai, Quirino; Lerut, Jan

    2016-01-01

    Liver transplantation (LT) represents an uncommon indication for Caroli's disease (CD) or syndrome (CS). Excellent results of LT have been reported as shown by recent multicentric European and American registry reports. Clear therapeutic flowcharts to adopt in these diseases are still lacking. This review aims at analyzing highlighting recent transplant experiences in this field and also at focusing on the role of LT in case-specific comorbidities such as development of cholangiocellular cancer or renal failure are present. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Right hemithoracic pseudocyst with splenic artery aneurysm: two rare complications of uncommon disease

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    John Freels

    2006-06-01

    Full Text Available Pleural involvement is an uncommon but well recognized complication of chronic pancreatitis, mainly in the form of pleural effusion affecting the left hemithorax. Pancreatic pseudocyst extending to the posterior mediastinum with or without communication with the pleural space is another rare form of this involvement.The treatment of chronic pancreatic pleural effusions and pancreatic pseudocysts generally starts with a conservative approach including bowel rest, drainage of the pleural effusion by repeated thoracentesis or a chest tube, and total parenteral nutrition (TPN for a period of time determined by the clinical course. Other treatment modalities including percutaneous drainage, endoscopic retrograde cholangiopancreatogram (ERCP with stenting of the pancreatic duct and surgical drainage are used if conservative approaches fail.We report a patient with a complicated pancreatic pseudocyst who showed an involvement of the posterior mediastinum and right pleural space, with conspectus sparing of the left hemithorax. The patient had a prolonged and complicated course that included recurrence of the pseudocyst with oral feedings and the development of a splenic artery aneurysm. Some of the above findings have been reported separately as uncommon complications of chronic pancreatitis and pancreatic pseudcyst, but to our knowledge a single case with all these complications was not published in the English literature.

  16. Cross-pollination of research findings, although uncommon, may accelerate discovery of human disease genes

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    Duda Marlena

    2012-11-01

    Full Text Available Abstract Background Technological leaps in genome sequencing have resulted in a surge in discovery of human disease genes. These discoveries have led to increased clarity on the molecular pathology of disease and have also demonstrated considerable overlap in the genetic roots of human diseases. In light of this large genetic overlap, we tested whether cross-disease research approaches lead to faster, more impactful discoveries. Methods We leveraged several gene-disease association databases to calculate a Mutual Citation Score (MCS for 10,853 pairs of genetically related diseases to measure the frequency of cross-citation between research fields. To assess the importance of cooperative research, we computed an Individual Disease Cooperation Score (ICS and the average publication rate for each disease. Results For all disease pairs with one gene in common, we found that the degree of genetic overlap was a poor predictor of cooperation (r2=0.3198 and that the vast majority of disease pairs (89.56% never cited previous discoveries of the same gene in a different disease, irrespective of the level of genetic similarity between the diseases. A fraction (0.25% of the pairs demonstrated cross-citation in greater than 5% of their published genetic discoveries and 0.037% cross-referenced discoveries more than 10% of the time. We found strong positive correlations between ICS and publication rate (r2=0.7931, and an even stronger correlation between the publication rate and the number of cross-referenced diseases (r2=0.8585. These results suggested that cross-disease research may have the potential to yield novel discoveries at a faster pace than singular disease research. Conclusions Our findings suggest that the frequency of cross-disease study is low despite the high level of genetic similarity among many human diseases, and that collaborative methods may accelerate and increase the impact of new genetic discoveries. Until we have a better

  17. Moyamoya Disease – a Vasculopahty and an Uncommon Cause of Recurrent Cerebrovascular Accidents

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    Yasmin S Hamirani

    2008-09-01

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    Moyamoya disease is a very rare chronic cerebrovascular disease of unknown etiology characterized by recurrent ischemic or hemorrhagic strokes. Initially diagnosed in Japan and named after finding puff of smoke like collateral blood vessels around the occluded blood vessels of circle of Willis. With increase awareness this disease is now diagnosed more often. Medical and surgical treatment have been used to treat the disease, with surgical treatment been mostly experimental. Special attention should be given to the surgical treatment which has shown to have an edge over the medical treatment in some clinical trials especially in young patients with recurrent strokes to prevent progressive cognitive decline and to improve their quality of life. In our patient, who is a young man, the diagnosis was picked up late and when surgical evaluation was performed, it was considered to be fruitless with findings of nonviable brain tissue on MRI imaging.

  18. Hirschsprung's disease and malrotation of the mid-gut: an uncommon association

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    de Bruyn, R.; Hall, C.M.; Spitz, L. (Hospital for Sick Children, London (UK))

    1982-08-01

    Gastrointestinal malrotation is recognized to be associated with ventral abdominal wall and diaphragmatic defects. Congenital anomalies in Hirschsprung's disease are generally considered to be fortuitous. The two, when combined form a potentially fatal condition as the clinical and radiological signs and symptoms may be masked. The problems and pitfalls in radiological diagnosis and technique when gastrointestinal malrotation and Hirschsprung's disease occurs simultaneously are discussed.

  19. Common and Uncommon Conditions of Breast Disease in Children and Adolescents: A Pictorial Review

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    Cho, Hyoun; Kim, Kyu Soon; Kim, Da Mi [Dept. of f Radiology, Eulji University Hospital, Daejeon (Korea, Republic of); Kim, You Me [Dept. of Radiology, Dankook University Hospital, Cheonan (Korea, Republic of); Kim, Hak Hee [Dept. of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    2013-02-15

    The purpose of this study is to review various breast diseases in children and adolescents and to illustrate the sonographic findings. We reviewed the cases at our institution in order to identify breast disease in children and adolescent patients who underwent sonography and mammography. Breast disease in children and adolescents included developmental disturbance, infection, benign tumors and inherent defects. In contrast to adults, the radiologic findings of malignant breast conditions in pediatric populations have rarely been reported; however, we show ductal carcinoma in situ with juvenile fibroadenoma and rhabdomyosarcoma. During childhood and adolescence, the recognition and correct identification of physiologic breast development and specific lesions in breast entities on radiologic findings is most helpful in identifying and characterizing abnormalities and in guiding further investigation.

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

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    Choy, F.Y.M.; Wei, C.; Applegarth, D.A.; McGillivray, B.C. [Univ. of British Columbia, Vancouver (Canada)

    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. This 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.

  1. Uncommon and Neglected Venezuelan Viral Diseases: Etiologic Agents, Physiopathological, Clinical and Epidemiological Characteristics

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    Juan C. Gabaldon-Figueira

    2015-10-01

    Full Text Available Abstract (english Viral infectious diseases are common in Venezuela, influenza, dengue, yellow fever, HIV infection, viral Hepatitis, chikungunya fever and many others represent public health problems in the country and therefore, have been well documented. However, other rarer and even unique or lethal viral illnesses present in Venezuela are usually poorly understood or even unknown. This review described Venezuelan Hemorrhagic Fever, Venezuelan Equine Encephalitis, Hantavirus Infections and Mayaro fever, named as neglected diseases, emphasizing the etiologic agents and their most relevant pathogenic mechanisms, clinical and epidemiological characteristics. Although there is not an official report about the re-emergence of these diseases, falling living standards and unsanitary conditions, together with limited accessibility to hygiene products and medical supplies, put us on alert about the re-emergence of these neglected diseases. Resumen (español Las enfermedades infecciosas virales son comunes en Venezuela, influenza, dengue, fiebre amarilla, infección por VIH, hepatitis viral, fiebre chikungunya y muchas otras representan problemas de salud pública en el país y por lo tanto, han sido bien documentadas. Sin embargo, otras enfermedades virales más raras e incluso únicas y letales presentes en Venezuela son generalmente poco estudiadas y hasta desconocidas. Esta revisión describe alguna de estas enfermedades olvidadas tales como la fiebre hemorrágica venezolana, la encefalitis equina venezolana, las infecciones por hantavirus y la fiebre de Mayaro, haciendo hincapié en los agentes etiológicos y en sus mecanismos patogénicos más relevantes, características clínicas y epidemiológicas. Aunque no hay informes oficiales sobre el resurgimiento de estas enfermedades, la caída de los niveles de vida y las condiciones insalubres, junto con el acceso limitado a los productos de higiene y suministros médicos, debe alertar sobre el

  2. Invasive lobular carcinoma of the male breast: A rare histology of an uncommon disease.

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    Upadhyay, Rituraj; Kumar, Pavnesh; Sharma, D N; Haresh, K P; Gupta, Subhash; Julka, P K; Rath, G K; Bhankar, Himani

    2016-03-01

    Male breast carcinoma is a rare malignancy comprising less than 1% of all breast cancers. It is a serious disease with most patients presenting in advanced stages. Infiltrating ductal carcinoma is the most common histology while lobular carcinoma represents less than 1% of all these tumors. We report a case of locally advanced lobular carcinoma of breast in a 60 year old male. Copyright © 2015 The Authors. Production and hosting by Elsevier B.V. All rights reserved.

  3. Palpable purpura with foot drop: Common presentations in an uncommon disease.

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    Mathanda, Teena Ramesh; Bhat, Ramesh; Alva, Jayaprakash

    2015-01-01

    Churg-Strauss syndrome is a rare disease manifested by hypereosinophilia, vasculitis and tissue infiltration. This report describes the case of a 45-year-old man who presented with a history of fever, difficulty in breathing, reddish lesions over the extremities and inability to walk since two weeks. The cutaneous features prompted us to conduct serial lab investigations which led to an early, potentially life saving diagnosis.

  4. Palpable purpura with foot drop: Common presentations in an uncommon disease

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    Mathanda, Teena Ramesh; Bhat, Ramesh; Alva, Jayaprakash

    2015-01-01

    Churg-Strauss syndrome is a rare disease manifested by hypereosinophilia, vasculitis and tissue infiltration. This report describes the case of a 45-year-old man who presented with a history of fever, difficulty in breathing, reddish lesions over the extremities and inability to walk since two weeks. The cutaneous features prompted us to conduct serial lab investigations which led to an early, potentially life saving diagnosis.

  5. An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease

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    Ragesh Panikkath MD

    2016-07-01

    Full Text Available A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2. Sequence analysis of LMNA gene showed a heterozygous missense mutation at exon 8 (c.1444C>T causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter. She had sinus nodal and atrioventricular nodal disease and had an implantable cardioverter defibrillator implantation due to persistent left ventricular dysfunction. The device eroded through the skin few months after implantation and needed a re-implant on the contralateral side. She had atrial flutter requiring ablation. This patient with FPLD2 had most of the reported cardiac complications of FPLD2. This case is presented to improve the awareness of the presentation of this disease among cardiologists and internists.

  6. Unilateral hemorrhagic maculopathy: An uncommon manifestation of hand, foot, and mouth disease

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    Tandon, Manish; Gupta, Abhishek; Singh, Priyanka; Subathra, Gnanavelu N

    2016-01-01

    Hand, foot, and mouth disease (HFD) is a common systemic infection occurring in childhood or immunocompromised adults caused by enteroviruses, the most common being coxsackievirus A16 and enterovirus 71. It is characterized by maculopapular eruptions over the hands and feet and ulcerative stomatitis. Ocular involvement is a rare complication and commonly manifests as inflammatory macular pathology. We report a case of HFD in an immunocompetent adult male with unilateral ocular involvement presenting as hemorrhagic maculopathy and its management with complete anatomical and functional recovery. PMID:27905343

  7. Localized cystic disease of the kidney: A rare diagnosis of this uncommon condition in a child

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    Christopher A. Behr

    2016-09-01

    Full Text Available Localized cystic disease of the kidney (LCDK is a rare condition found primarily in adults, with the total number of documented cases less than 75. Its incidence in the pediatric population is even more minuscule. It is a benign condition, but can be difficult to classify with certainty on imaging, often necessitating surgical excision to adequately rule out a malignancy. We present the case of a six-year-old child with a cystic mass of the kidney who underwent a radical nephroureterectomy, for which pathology showed LCDK. We then review the literature on the subject.

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

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    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.

  9. Mitomycin-based hepatic arterial infusion chemotherapy for solitary ampullary cancer liver metastasis: an unusual treatment for an uncommon disease.

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    Vitale, Felice V; Romeo, Placido; Luciani, Bruno; Raffaele, Mario; Colina, Paolo; Ferraù, Francesco

    2015-10-01

    Ampullary carcinoma is an uncommon gastrointestinal disease. Its natural history is often characterized by the occurrence of liver metastases. Among patients who undergo pancreatoduodenectomy, those presenting with lymph nodes involvement are more prone to early distant disease relapse. In this report, a patient previously diagnosed with ampullary carcinoma had been treated with curative surgery. After subsequent adjuvant gemcitabine, the patient developed significant myelotoxicity and suffered from a single liver metastasis a few months later. A hepatic intra-arterial mitomycin plus fluorouracil-based chemotherapy was administered in order to avoid any serious systemic toxicity. The treatment was well tolerated and no serious side effects occurred. Extra-hepatic cancer relapse, involving intra-thoracic and abdominal lymph nodes, was observed not long after the initial intra-hepatic almost complete response. In conclusion, the locoregional chemotherapy administration was effective in overcoming any systemic toxicities and showed activity against the liver metastasis but it did not prevent extra-hepatic cancer dissemination. © The Author(s) 2014.

  10. Developing and Testing a High-Fidelity Simulation Scenario for an Uncommon Life-Threatening Disease: Severe Malaria

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    Andrew Kestler

    2011-01-01

    Full Text Available Background. Severe malaria is prevalent globally, yet it is an uncommon disease posing a challenge to education in nonendemic countries. High-fidelity simulation (sim may be well suited to teaching its management. Objective. To develop and evaluate a teaching tool for severe malaria, using sim. Methods. A severe malaria sim scenario was developed based on 5 learning objectives. Sim sessions, conducted at an academic center, utilized METI ECS mannequin. After sim, participants received standardized debriefing and completed a test assessing learning and a survey assessing views on sim efficacy. Results. 29 participants included 3rd year medical students (65%, 3rd year EM residents (28%, and EM nurses (7%. Participants scored average 85% on questions related to learning objectives. 93% felt that sim was effective or very effective in teaching severe malaria, and 83% rated it most effective. All respondents felt that sim increased their knowledge on malaria. Conclusion. Sim is an effective tool for teaching severe malaria in and may be superior to other modalities.

  11. Hand dermatitis: uncommon presentations.

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    Bauer, Andrea

    2005-01-01

    Hand dermatitis is a common diagnosis seen in dermatologic and general practice. It can present with typical morphology, but uncommon manifestations are possible. This review reports on common and uncommon presentations of irritant and allergic hand dermatitis focusing on uncommon localizations, time course, and morphology such as follicular, pustular, bullous, ulcerous, exudative erythema multiforme-like, purpuric, lichenoid, pigmented, and depigmented skin lesions. Clinical diagnosis can be challenging. Even histopathology is not always very helpful. Thorough evaluation of the patient's history and investigation of clinical morphology are the cornerstones of diagnosis.

  12. Tangier′s disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy

    Directory of Open Access Journals (Sweden)

    Madhu Nagappa

    2016-01-01

    Full Text Available Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1 transporter deficiency and disrupted reverse cholesterol transport. It causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle aged gentleman of Tangier disease who was initially misdiagnosed leprosy and treated with antileprosy drugs. The presence of a demyelinating neuropathy on electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. The characteristic lipid profile of Tangier disease was noted in this patient viz. extremely low high density lipoprotein (HDL, elevated triglyceride (TG, and reduced apolipoprotein A1. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis.

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

    Science.gov (United States)

    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

  14. Chronic granulomatous disease of childhood: an unusual cause of recurrent uncommon infections in a 61-year-old man

    NARCIS (Netherlands)

    Isman-Nelkenbaum, G.; Wolach, B.; Gavrieli, R.; Roos, D.; Sprecher, E.; Bash, E.; Gat, A.; Sprecher, H.; Ben-Ami, R.; Zeeli, T.

    2011-01-01

    Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency that affects 1 : 250 000 of the population, which is characterized by recurrent bacterial and fungal infections and by granuloma formation. We investigated a 61-year-old man presented with a 20-year history of a relapsing skin

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

    Science.gov (United States)

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

    2015-09-16

    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. 2015 BMJ Publishing Group Ltd.

  16. A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

    Directory of Open Access Journals (Sweden)

    Marco Ceccanti

    2016-11-01

    Full Text Available Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family.

  17. Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

    Science.gov (United States)

    Paquay, Stéphanie; Benoit, Valérie; Wetzburger, Catherine; Cordonnier, Monique; Meire, Françoise; Charon, Anne; Roland, Dominique; Van Coster, Rudy; Nassogne, Marie-Cécile; Maystadt, Isabelle

    2014-08-01

    Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript. © The Author(s) 2013.

  18. Uncommon Species and Other Features

    Data.gov (United States)

    Vermont Center for Geographic Information — The Vermont Fish and Wildlife Department's Natural Heritage Inventory (NHI) maintains a database of uncommon, rare, threatened and endangered species and natural...

  19. JBS Haldane: an uncommon scientist

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 96; Issue 5. J. B. S. Haldane: an uncommon scientist. M. S. SWAMINATHAN. HALDANE AT 125 Volume 96 Issue 5 November 2017 pp 731-732. Fulltext. Click here to view fulltext PDF. Permanent link: http://www.ias.ac.in/article/fulltext/jgen/096/05/0731-0732. Keywords.

  20. Miller Fisher syndrome--an uncommon clinical presentation.

    Science.gov (United States)

    Santra, Gouranga; Datta, A K

    2008-11-01

    Miller Fisher syndrome is an uncommon disease and it is a variant of Guillain-Barre syndrome. Miller Fisher syndrome also has rarer variants. Combined features of classic Guillain-Barre syndrome and Miller Fisher syndrome are uncommon. Here we are reporting a case of Miller Fisher variant with Guillain-Barre syndrome overlap in which ataxia, are flexia, oculomotor disturbance and limb weakness occurred within few days.

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

    Science.gov (United States)

    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

  2. Crohn's disease and Sweet's syndrome: an uncommon association Enfermedad de Crohn y síndrome de Sweet: una asociación infrecuente

    Directory of Open Access Journals (Sweden)

    I. Catalán-Serra

    2010-05-01

    Full Text Available Sweet's syndrome or acute febrile neutrophilic dermatosis (SS is characterized by the sudden onset of painful erythematous lesions (papules, nodules, and plaques together with fever and neutrophilia. The lesions are typically located on hands, arms, upper trunk, neck and face, showing an asymmetric distribution. Acute phase reactants are usually elevated and dermal infiltration of neutrophils without vasculitis is seen on skin biopsies. It is considered as a marker of systemic disease in over half of the cases, and is associated with infections, inflammatory bowel disease, autoimmune connective tissue disorders and various neoplasias. Its association with Crohn's disease (CD is unusual and it appears mainly in association with colonic involvement. Fewer than 50 cases have been published in the medical literature since its first description in 1964, some concurrent with the first episode of CD. We present two patients with Crohn's disease and Sweet's syndrome diagnosed in our department at the time of CD diagnosis, as well as their response to treatment, subsequent course of the disease, and a review of the scientific literature.El síndrome de Sweet o dermatosis neutrofílica febril aguda (SS se caracteriza por la aparición brusca de lesiones eritematosas, (pápulas, nódulos y placas dolorosas, junto con fiebre y neutrofilia, siendo de presentación poco frecuente. Las lesiones se localizan preferentemente en manos, brazos, parte superior del tronco, cuello y cara, con distribución asimétrica. Suele haber elevación de reactantes de fase aguda y en las biopsias cutáneas se identifica una infiltración dérmica de neutrófilos sin vasculitis. Se considera un marcador de enfermedad sistémica en más de la mitad de los casos, asociándose a infecciones, enfermedad inflamatoria intestinal, conectivopatías autoinmunes y diversas neoplasias. Su asociación con la enfermedad de Crohn (EC es poco habitual, asociado sobre todo a afectación col

  3. CLL: Common Leukemia; Uncommon Presentations.

    Science.gov (United States)

    Lad, Deepesh; Malhotra, Pankaj; Varma, Neelam; Sachdeva, Manupdesh Singh; Das, Ashim; Srinivasan, Radhika; Bal, Amanjit; Khadwal, Alka; Prakash, Gaurav; Suri, Vikas; Kumari, Savita; Jain, Sanjay; Varma, Subhash

    2016-09-01

    We report here a series of ten patients with uncommon presentations and associations of chronic lymphocytic leukemia (CLL) not reported hitherto or occasionally reported in literature. The first two cases describe unusual causes of abdominal distension in CLL and unusual sites infiltration by CLL. The next two cases illustrate occurrence of CLL in association with other hematological malignancies. Cases five and six describe unusual infections and their impact on CLL. Cases seven and eight depict associations of rare non-hematological autoimmune conditions with CLL. The last two cases describe transformation at unusual sites. This series of ten cases illustrates how a common leukemia like CLL can present in different forms and how despite so much progress in understanding of this leukemia so little is known of such presentations.

  4. Mastopatia Diabética: Causa Incomum de Doença Inflamatória da Mama Diabetic Mastopathy: Uncommon Cause of Inflammatory Disease of the Breast

    Directory of Open Access Journals (Sweden)

    Juvenal Mottola Jr.

    2002-09-01

    histopathologic analysis, and diabetic mastopathy was diagnosed. Results: the patients' average age was 50.2 years, and all had insulin-dependent diabetes mellitus, with average disease time of 14.9 years. All patients, with no exception, had a bad glycemic control; the average blood glucose was 329.6 mg/dL and the glycosilated hemoglobin average was 9.7%. NPH insulin dose being applied per day was 37.2 units. Patients underwent a clinical treatment with antibiotics and control of the glycemic levels with NPH insulin and had resolution of the symptoms in about five weeks. Conclusion: the professionals involved in women health care must be aware of this inflammatory pathology of the breast and its benign characteristics to avoid unnecessary procedures sometimes with patient injury.

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

    Science.gov (United States)

    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.

  6. Pictorial essay: Uncommon causes of coronary artery encasement.

    Science.gov (United States)

    Yong, Yan Rong; Lath, Narayan; Cheah, Foong Koon; Ng, Yuen Li

    2016-01-01

    This pictorial essay presents cases of non-atherosclerotic coronary artery encasement which were encountered in our institution, including malignant lymphoma, Erdheim-Chester disease, immunoglobulin G4 (IgG4)-related disease and Polyarteritis Nodosa. These conditions usually have multisystemic involvement which aid in the diagnosis. Awareness of these uncommon disorders and their ancillary findings can facilitate early, accurate diagnosis and appropriate management. Copyright © 2016 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

  7. Uncommon locations and presentations of hydatid cyst.

    Science.gov (United States)

    Sachar, S; Goyal, S; Goyal, S; Sangwan, S

    2014-05-01

    Hydatid disease (HD) is an ancient disease and even was known to Hippocrates. This disease involves all human parts and most common affected organs are liver and lungs. Incidence of unusual site is about 8-10%. The clinical picture depends upon the involved organs, its effects on adjacent structures, complications due to secondary infection, rupture, and anaphylaxis caused by hydatid cysts. The aim of this study was to find out incidence of unusual location of hydatid cyst in the human body. A retrospective study of HD was carried in a medical college between July 2007 and June 2012. A total 79 cases of HD were treated during this period. Information on clinical presentation and management were reviewed, and results presented as summary statistics. Sixty one cases were of liver HD, and 11 were with hydatid lung disease. Fifty cases were with right lobe involvement, and rest 11 were with both lobe involvement. Out of 11 lung hydatid only one case was with bilateral lung involvement. Only eight cases of HD of uncommon locations and presentations were encountered during this period. First case presented with left hypochondriac mass as splenic HD, second with pelvic HD along with obstructive uropathy, third with non-functioning right kidney with bilateral psoas muscles HD, fourth with HD involving mesentery, fifth with pelvic pain due to right ovary HD, sixth with simultaneous involvement of the liver and right subdiaphragmatic region, seventh with HD of right inguinal region, and eighth with hydatid cyst of the left kidney. Even though, there was no mortality found in these patients, there was high morbidity. We conclude that Echinococcus granulosus can affect any organ in the body from head to toe, and a high suspicion of this disease is justified in endemic regions. Moreover, medical treatment should be given in the pre-operative period as well as in the post-operative period for 4-6 weeks.

  8. ENDOCARDITIS WITH AN UNCOMMON GERM

    Directory of Open Access Journals (Sweden)

    M. Gharouni

    2006-07-01

    Full Text Available Enterococci are normal inhabitants of gastrointestinal tract, being responsible for 5 to 18% of infective endocarditis and the incidence appears to be increasing. Eleven patients with enterococcal endocarditis were studied. In a case series group, 10 men (average 57 years and one woman (37 years were studied. Two patients had rheumatic heart disease, 5 patients arteriosclerotic disease and one patient chronic renal failure on hemodialysis. Ten patients were treated with ampicillin and gentamycin. Valve replacement was performed in 3 patients with aortic valve endocarditis, one on 8th day and two at the end of the treatment. Overall clinical cure was achieved in 9 patients. Two relapses occurred and 2 patients died as a result of refractory congestive heart failure and cerebral emboli. All of the enterococcal endocarditis cases were community acquired. In conclusion, infective endocarditis in patients with preexistent valvular heart disease, community acquisition and non specific symptoms with bacteriuria should be considered as enterococcal endocarditis.

  9. Diabetic cachectic neuropathy: An uncommon neurological ...

    African Journals Online (AJOL)

    access article is distributed under. Creative Commons licence CC-BY-NC 4.0. CASE REPORT. Diabetic cachectic neuropathy: An uncommon neurological complication of diabetes. A Iyagba, MBBS, FWACP, FMCP; A Onwuchekwa, MBBS, FMCP.

  10. [Lepra: an uncommon cause of infectious neuropathy].

    Science.gov (United States)

    Turpín-Fenoll, L; Martín-Estefanía, C; Berenguer, L; Lucas-Costa, A; Bañuls-Roca, J; Alcaraz-Mateos, E

    2009-05-01

    Lepra is an uncommon disease within our setting. However, it was considered the most frequent cause of polyneuropathy only 50 years ago. We present the case of a 37 year-old woman who consulted due to paresthesias in both hands and feet, livedo reticularis and complaints of frequent hand lesions. Examination of the skin detected nodular lesions and the neurophysiological study confirmed distal symmetric sensitive polyneuropathy with axonal predominance. The skin biopsy also showed histocytic infiltrate and mycobacterium lepra type intracytoplasmatic bacilli. This led to the diagnosis of Multibacillary lepromatous leprosy. Multiple treatment was begun, according to the World Health Organization recommendations, with good evolution. In spite of the attempts to eradicate lepra, its incidence continues to be elevated, especially in endemic areas, among which the south of Spain is included. It is generally associated to overcrowding and low social-economic level. This is the last endemic case in the Valencian Community. The possibility of lepra should be considered among the possible causes of sensitive polyneuropathy, above all in patients in endemic areas.

  11. Coexistence of leprosy and pulmonary tuberculosis: An uncommon entity

    Directory of Open Access Journals (Sweden)

    Ajay Kumar Verma

    2015-01-01

    Full Text Available The association of two of the oldest diseases of mankind, leprosy and tuberculosis (TB has been uncommonly reported in the literature. Herein, we report a known case of leprosy subsequently associated with sputum positive TB complicated by a type-II lepra reaction. There is a need for screening of patients for TB in patients diagnosed with leprosy to prevent the accidental misuse of an important drug, rifampicin to prevent the possibility of drug-resistant TB.

  12. Gleason Grade Progression Is Uncommon

    Science.gov (United States)

    Penney, Kathryn L.; Stampfer, Meir J.; Jahn, Jaquelyn L; Sinnott, Jennifer A.; Flavin, Richard; Rider, Jennifer R.; Finn, Stephen; Giovannucci, Edward; Sesso, Howard D.; Loda, Massimo; Mucci, Lorelei A.; Fiorentino, Michelangelo

    2013-01-01

    Gleason grade is universally used for pathologic scoring the differentiation of prostate cancer. However, it is unknown whether prostate tumors arise well-differentiated and then progress to less differentiated forms or if Gleason grade is an early and largely unchanging feature. Prostate Specific Antigen (PSA) screening has reduced the proportion of tumors diagnosed at advanced stage, which allows assessment of this question on a population level. If Gleason grade progresses as stage does, one would expect a similar reduction in high grade tumors. We studied 1,207 Physicians’ Health Study and Health Professionals Follow-up Study participants diagnosed with prostate cancer 1982–2004 and treated with prostatectomy. We compared the distribution of grade and clinical stage across the pre-PSA and PSA screening eras. We re-reviewed grade using the ISUP 2005 revised criteria. The proportion of advanced stage tumors dropped more than six-fold, from the earliest period (12/1982–1/1993), 19.9% stage ≥T3, to the latest (5/2000–12/2004), 3% stage T3, none T4. The proportion of Gleason score ≥8 decreased substantially less, from 25.3% to 17.6%. A significant interaction between stage and diagnosis date predicting grade (p=0.04) suggests the relationship between grade and stage varies by time period. As the dramatic shift in stage since the introduction of PSA screening was accompanied by a more modest shift in Gleason grade, these findings suggest grade may be established early in tumor pathogenesis. This has implications for the understanding of tumor progression and prognosis, and may help patients diagnosed with lower grade disease feel more comfortable choosing active surveillance. PMID:23946472

  13. Uncommon hepatic tumors: iconographic essay - Part 1.

    Science.gov (United States)

    Pedrassa, Bruno Cheregati; da Rocha, Eduardo Lima; Kierszenbaum, Marcelo Longo; Bormann, Renata Lilian; Torres, Lucas Rios; D'Ippolito, Giuseppe

    2014-01-01

    Most malignant liver tumors are represented by hepatocellular carcinoma and cholangiocarcinoma; however a variety of other uncommon hepatic lesions might also be found. Common lesions such as hemangioma, focal nodular hyperplasia and metastases are well known and have already been extensively documented in the literature. The diagnosis of typical hepatic lesions may be done with some reliability by means of several imaging methods; on the other hand, uncommon lesions normally represent a diagnostic challenge for the radiologist. In this first part of the study, the authors will approach five uncommon liver tumors - angiosarcoma, angiomyolipoma, cystadenoma/biliary carcinoma, epithelioid hemangioendothelioma, and fibrolamellar hepatocellular carcinoma -, describing their main characteristics and image findings with focus on computed tomography and magnetic resonance imaging.

  14. Uncommon opportunistic yeast bloodstream infections from Qatar

    NARCIS (Netherlands)

    Taj-Aldeen, S.J.; AbdulWahab, A.; Kolecka, A.; Deshmukh, A.; Meis, J.F.G.M.; Boekhout, T.

    2014-01-01

    Eleven uncommon yeast species that are associated with high mortality rates irrespective of antifungal therapy were isolated from 17/187 (201 episodes) pediatric and elderly patients with fungemia from Qatar. The samples were taken over a 6-year period (January 2004-December 2010). Isolated species

  15. MORPHOLOGICAL STUDY OF THE UNCOMMON RECTUS ...

    African Journals Online (AJOL)

    hi-tech

    2004-03-03

    Mar 3, 2004 ... MORPHOLOGICAL STUDY OF THE UNCOMMON RECTUS STERNI MUSCLE IN GERMAN CADAVERS. M. A. Motabagani, PhD., A. ... infrequent mass of striated musculature in front of the human chest(1). The muscle ... abdominis muscle, and finally gaining insertion into the costal cartilages, the lower ...

  16. [Pemphigoid gestationis and Turner syndrome; an uncommon association].

    Science.gov (United States)

    Cadoret, F; Lorenzini, F; Parant, O

    2015-09-01

    The authors report an uncommon case of a pregnant woman with Turner syndrome (TS) whose pregnancy (with favorable outcome) was complicated by a pemphigoid gestationis in third trimester. This case points out that monitoring of these pregnancies is not limited to cardiac monitoring. Prevalence of auto-immune diseases is increased in the TS. Auto-immune dermatoses, such as pemphigoid gestationis, are one of the potential complications during pregnancy and should be known to practitioners. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  17. Langerhans cell histiocytosis: An uncommon presentation, successfully treated by thalidomide

    Directory of Open Access Journals (Sweden)

    Mohammad Shahidi-Dadras

    2011-01-01

    Full Text Available Langerhans cell histiocytosis (LCH is a rare disease and generally affects children under 15 years of age. Adult onset form and cutaneous features at presentation are uncommon. There are some options for treatment of the skin lesions of LCH such as topical and intralesional corticosteroid, nitrogen mustard, etc., which are not completely curative. Herein, we report a case of perianal LCH in a 20-year-old man with one-year history of recalcitrant well-demarcated, erythematous, and ulcerated plaque surrounding the anal orifice, with pain and difficulty in defecation that was successfully treated with thalidomide.

  18. Pelvic hydatid cyst with uncommon sciatalgia manifestation: a case report

    Directory of Open Access Journals (Sweden)

    Ghodratolah Maddah

    2013-11-01

    Full Text Available Background: Hydatid disease or echinococcosis is a common parasitic disease of human and bovine, caused by infection with larva of the cestode echinococcus. Liver is the most common organ that is involved in this disease. Pelvic involvement and neurological symptoms, due to mass effect of pelvic involvement, in lower extremities are very uncommon manifestations of the disease.Case presentation: A forty six year old man was referred to clinic of surgery at Ghaem Hospital, Medical University of Mashhad, Iran. The patient complained about weakness and motor impairment in right lower extremity accompanied by numbness and radicular pain over past two months. Physical examination demonstrated muscular atrophy and reduced muscular strength in right lower extremity. Computed tomography and ultrasonographic studies showed a cystic mass in right side of the pelvic cavity with extention to the sciatic notch and another cystic mass in right gluteal region. Surgical operation revealed a cystic mass deep in pelvic cavity with the extention to the right sciatic notch with compression of nerve roots. The cystic mass was contained of daughter cysts which confirmed the diagnosis of hydatid cyst disease. This diagnosis was confirmed by pathologic assessment.Conclusion: Although uncommon, but hydatid disease can involve the pelvic cavity and make a pelvic, usually cystic, mass; that can make compression on nerve roots and so making neurologic symptoms in lower extremities. So in endemic areas for hydatid disease, such as Iran, pelvic hydatid cysts should be considered as a possible differential diagnosis in patients presenting with the sciatic pain and neurological manifestations in whom a pelvic mass has been found too.

  19. Uncommon toxicity of low-dose methotrexate: case report

    Directory of Open Access Journals (Sweden)

    Zohreh Yousefi

    2015-10-01

    Full Text Available Background: Standard treatment of Gestational Trophoblastic Disease (GTD is chemotherapy. Single-agent chemotherapy regime including Methotrexate (MTX or Actinomycin. Single-agent is widely used in treatment of persistent trophoblastic disease. We reported an uncommon toxicity of low-dose single-agent methotrexate in a patient. Case Presentation: A 20-year-old woman, primary gravid after two months missed period and spotting with diagnosis of incomplete abortion with uterine size equivalent of ten weeks pregnancy (8-10 cm underwent evacuation curettage. In serial follow-up, based on rise of beta-hCG titer and absence of metastatic disease, it was categorized as low-risk persistent trophoblastic disease. She was referred to gynecology oncology center of Ghaem Hospital, Mashhad University of Medical Sciences in May 2014. Because of rise of beta-hCG titer, after complete metastatic work-up and lack of disease in other sites, persistent disease was diagnosed and candidate for chemotherapy (single agent low-dose. The patient received first course of therapy with MTX (50 mg/m², intra muscular. Unfortunately, after two days of treatment she developed uncommon severe toxicity, fever, severe nausea and vomiting, tachycardia, and generalized weakness. Also, we found hematologic abnormality (WBC: -14000-15000 µI, platelet- 540 µI and sever neutropenia, and abnormal rising in liver function test (SGOT, SGPT (three to four times and renal function test (BUN and Creatinine (two times. In addition, she had disseminated erosive lesion in all of body especially in face. Due to the fatal side effects of chemotherapy, she was admitted to intensive care unit (ICU. Fortunately, after two to three weeks, she was improved by conservative management. After few weeks beta-hCG titer was in normal limit. However she had normal serial beta-hCG in one year of follow-up. Conclusion: It is important to emphasis unpredictable side effects of chemotherapy with low

  20. Is pneumothorax after acupuncture so uncommon?

    DEFF Research Database (Denmark)

    Stenger, Michael; Bauer, Nicki Eithz; Licht, Peter B

    2013-01-01

    Acupuncture is one of the most widely used forms of traditional Chinese medicine often referred to as alternative therapy in the Western World and over the past decades it has become increasingly popular in Denmark. Pneumothorax is known as the most common serious complication following acupuncture......, but it is quite rarely reported. During a three-month period two patients with pneumothorax caused by acupuncture were admitted to our department. The purpose of this case report is to increase awareness of this complication, which may not be so uncommon....

  1. Uncommon renal tumors in children: A single center experience

    Directory of Open Access Journals (Sweden)

    Kartik Chandra Mandal

    2016-01-01

    Full Text Available Aims: Scrutiny over the clinical behaviors, management, and the final outcome of some rare renal neoplasm in order to find out some hidden facts about these tumors which are playing an important role in the disease course and its management. Materials and Methods: Retrospective evaluation of uncommon (non-Wilms′ renal neoplasm in the pediatric population in a tertiary care center. Fifteen cases of uncommon renal tumors were treated in our institution over the last 5 years (January 2008 to December 2012. The cases were tabulated in the form of age, sex, mode of presentation, preoperative investigations, intraoperative grading, pathological type, postoperative management and the final outcome. The patients were followed up for 2 years (clinically every 3 months and ultrasonography abdomen in every 6 months for first 2 years in order to see any evidence of recurrence and complications related to postoperative chemotherapy. Results: Out of 15 cases, four cases were clear cell sarcoma (CCS (26.6%, three cases were rhabdoid tumor (20%, three cases were congenital mesoblastic nephroma (20%, two cases were multilocular cystic nephroma (13.3%, two cases were renal teratoma (13.3%, and one case of teratoid Wilms′ tumor (6.6%. There were two deaths (one CCS and one rhabdoid tumor due to chemotherapy-related toxicity but no recurrence. Three patients were lost during postoperative follow-up; ten patients are doing well and getting a regular visit in the follow-up clinic. Conclusion: The clinical presentations of these uncommon renal tumors are similar to that of Wilms′ tumor. Thus, preoperative diagnosis is difficult even with modern imaging techniques. Some of these tumors (CCS, rhabdoid tumor are rapidly progressing and have a poor outcome. Hence, early intervention in the form of complete surgical resection of the tumor (whenever possible and postoperative chemo/radiotherapy are imperative for fruitful outcome.

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

    Science.gov (United States)

    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.

  3. Papulonecrotic tuberculid with scrofuloderma: an uncommon association.

    Science.gov (United States)

    Gupta, Vinita

    2015-02-01

    Cutaneous tuberculosis can be classified as true cutaneous tuberculosis and tuberculids which is regarded as a hypersensitivity reaction to M. tuberculosis in patients with a high degree of tuberculin sensitivity. Papulonecrotic tuberculid (PNT) is a form of tuberculid. It is an uncommon manifestation even in areas with high prevalence of tuberculosis. We report a case of 35-year-old man who presented with necrotizing papules in symmetrical fashion over the trunk and extremities for last one year along with a discharging sinus in right axilla for last two months. Papulonecrotic tuberculid (PNT) with scrofuloderma were suspected on clinical examination. Mantoux test was strongly positive with 20x20mm. He was treated successfully with ATT without any further appearance of new lesions.

  4. Congenital cholesteatoma of the middle ear - uncommon clinical presentation

    Directory of Open Access Journals (Sweden)

    Bukurov Bojana

    2014-01-01

    Full Text Available Introduction. Congenital cholesteatoma of the middle ear is un uncommon and yet not well-defined disease. Only few cases of cholesteatoma in the fossa ovalis with unusual clinical presentation have been reported in medical literature. Case report. We reported a 16-year-old girl with congenital cholesteatoma in the fossa ovalis with minimal clinical presentation. A small mass was found occluding the fossa ovalis and mimicking otosclerotic process within tympanic cavity. The operation started as stapedotomy, and when the process was confirmed it converted to mastoidectomy via the retroauricular approach. Conclusion. The diagnosis of congenital cholesteatoma in children should always be considered, even if the clinical symptoms imitate other ear disorders, in our case otosclerosis. [Projekat Ministarstva nauke Republike Srbije, br. 179055: Cochlear implantation impact on education of deaf and hearing-impaired

  5. Allergy to Uncommon Pets: New Allergies but the Same Allergens

    Science.gov (United States)

    Díaz-Perales, Araceli; González-de-Olano, David; Pérez-Gordo, Marina; Pastor-Vargas, Carlos

    2013-01-01

    The prevalence of exotic pet allergies has been increasing over the last decade. Years ago, the main allergy-causing domestic animals were dogs and cats, although nowadays there is an increasing number of allergic diseases related to insects, rodents, amphibians, fish, and birds, among others. The current socio-economic situation, in which more and more people have to live in small apartments, might be related to this tendency. The main allergic symptoms related to exotic pets are the same as those described for dog and cat allergy: respiratory symptoms. Animal allergens are therefore, important sensitizing agents and an important risk factor for asthma. There are three main protein families implicated in these allergies, which are the lipocalin superfamily, serum albumin family, and secretoglobin superfamily. Detailed knowledge of the characteristics of allergens is crucial to improvement treatment of uncommon-pet allergies. PMID:24416032

  6. Allergy to uncommon pets: new allergies but the same allergens.

    Directory of Open Access Journals (Sweden)

    Araceli eDiaz-Perales

    2013-12-01

    Full Text Available The prevalence of exotic pet allergies has been increasing over the last decade. Years ago, the main allergy-causing domestic animals were dogs and cats, although nowadays there is an increasing number of allergic diseases related to insects, rodents, amphibians, fish, and birds, among others. The current socio-economic situation, in which more and more people have to live in small apartments, might be related to this tendency. The main allergic symptoms related to exotic pets are the same as those described for dog and cat allergy: respiratory symptoms. Animal allergens are therefore, important sensitizing agents and an important risk factor for asthma. There are 3 main protein families implicated in these allergies, which are the lipocalin superfamily, serum albumin family, and secretoglobin superfamily. Detailed knowledge of the characteristics of allergens is crucial to improvement treatment of uncommon-pet allergies.

  7. Uncommon Sense - The Heretical Nature of Science

    Science.gov (United States)

    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

  8. Uncommon mucosal metastases to the stomach

    Directory of Open Access Journals (Sweden)

    Kanthan R

    2009-08-01

    Full Text Available Abstract Background Metastases to the stomach from an extra-gastric neoplasm are an unusual event, identified in less than 2% of cancer patients at autopsy. The stomach may be involved by hematogenous spread from a distant primary (most commonly breast, melanoma or lung, or by contiguous spread from an adjacent malignancy, such as the pancreas, esophagus and gallbladder. These latter sites may also involve the stomach via lymphatic or haematogenous spread. We present three cases of secondary gastric malignancy. Methods/Results The first is a 19-year-old male who received a diagnosis of testicular choriocarcinoma in September 2004. Metastatic malignancy was demonstrated in the stomach after partial gastrectomy was performed to control gastric hemorrhage. The second is a 75-year-old male, generally well, who was diagnosed with adenocarcinoma of the lung in September 2005. Poorly differentiated adenocarcinoma of the lung was demonstrated in a subsequent biopsy of "gastric polyps". The third is an 85-year-old man with no known history of malignancy who presented for evaluation of iron deficiency anemia by endoscopy in February 2006. Biopsies of the colonic and gastric mucosa demonstrated moderately differentiated invasive colonic adenocarcinoma with metastatic deposits in the stomach. Conclusion While the accurate recognition of these lesions at endoscopy is fraught with difficulty, pathological awareness of such uncommon metastases in the gastric mucosa is essential for accurate diagnosis and optimal patient management.

  9. Uncommon corrosion phenomena of archaeological bronze alloys

    Science.gov (United States)

    Ingo, G. M.; de Caro, T.; Riccucci, C.; Khosroff, S.

    2006-06-01

    In the framework of the EFESTUS project (funded by the European Commission, contract No. ICA3-CT-2002-10030) the corrosion products of a large number of archaeological bronze artefacts are investigated by means of the combined use of scanning electron microscopy (SEM), energy dispersive spectrometry (EDS), X-ray diffraction (XRD) and optical microscopy (OM) and tentative correlation of their nature with the chemical composition of the artefacts and the burial context is proposed. The results provide good insight into the corrosion layers and evidence in some bronze Roman coins and artefacts; the occurrence of uncommon corrosion phenomena that give rise to the formation of a yellowish-green complex chlorine-phosphate of lead (pyromorphite, (PbCl)Pb4(PO4)3) and of a gold-like thick layer of an iron and copper sulphide (chalcopyrite, CuFeS2). The micro-chemical and micro-structural results show that the coins were buried in a soil enriched in phosphorus for the accidental presence of a large amount of decomposing fragments of bones or in an anaerobic and humus rich soil where the chalcopyrite layer has been produced via the interaction between the iron of the soil, the copper of the coin and the sulphur produced by the decomposition of organic matter in an almost oxygen free environment. Finally, some unusual periodic corrosion phenomena occurring in high tin bronze mirrors found at Zama (Tunisia) are described.

  10. Uncommon manifestations of Listeria monocytogenes infection.

    Science.gov (United States)

    Chavada, Ruchir; Keighley, Caitlin; Quadri, Syed; Asghari, Ray; Hofmeyr, Ann; Foo, Hong

    2014-12-03

    Listeria monocytogenes causes gastroenteritis, meningitis and bacteraemia in immunocompromised, pregnant patients, the elderly as well in immunocompetent patients. Focal infections with this organism are uncommon, especially in sporadic (non-outbreak) setting, require high index of suspicion and are challenging to diagnose. We present 3 cases of Listeria monocytogenes presenting as focal infections to our hospitals, all of which are the first reported cases from Australia. Three unrelated cases of unique focal infections caused by Listeria monocytogenes are presented. 1) A 73 year old Caucasian lady on immunosuppression for colorectal cancer presented with prosthetic knee joint septic arthritis, 2) An 83 year old Caucasian man presented with prosthetic vascular graft infection and 3) A 60 year old Asian man with perianal abscess. Except for case 1, the other cases had a prolonged duration of symptoms on presentation. Listeria was not thought to be causative organism in any of these cases until microbiological specimens isolated the organism. Matrix Associated Laser Desorption/Ionization-Time of Flight Mass Spectrometry (MALDI-TOF MS) assisted in making an earlier diagnosis of the infection in all three cases. All of these patients had Listeria monocytogenes isolated from clinical specimens. They were managed with antibiotics and surgery with favourable outcomes. Public health investigations to determine any dietary association were done, however no intervention was thought to be necessary in any of the cases except provide dietary advice. The first two cases highlight the importance of microbiological sampling in serious infections for definitive antibiotic therapy to be administered. Sporadic focal infections with Listeria occur infrequently and are often not diagnosed till culture results from microbiological specimens become available. Dietary history should be an important aspect of thorough clinical history and food consumption advice is crucial in

  11. 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.

    Science.gov (United States)

    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.

  12. Candidaemia with uncommon Candida species: predisposing factors, outcome, antifungal susceptibility, and implications for management.

    Science.gov (United States)

    Chen, S C A; Marriott, D; Playford, E G; Nguyen, Q; Ellis, D; Meyer, W; Sorrell, T C; Slavin, M

    2009-07-01

    The risk factors for and clinical features of bloodstream infection with uncommon Candida spp. (species other than C. albicans, C. glabrata, C. parapsilosis, C. tropicals and C. krusei) are incompletely defined. To identify clinical variables associated with these species that might guide management, 57 cases of candidaemia resulting from uncommon Candida spp. were analysed in comparison with 517 episodes of Candida albicans candidaemia (2001-2004). Infection with uncommon Candida spp. (5.3% of candidaemia cases), as compared with C. albicans candidaemia, was significantly more likely to be outpatient-acquired than inpatient-acquired (15 of 57 vs. 65 of 517 episodes, p 0.01). Prior exposure to fluconazole was uncommon (n=1). Candida dubliniensis was the commonest species (n=22, 39%), followed by Candida guilliermondii (n=11, 19%) and Candida lusitaniae (n=7, 12%).C. dubliniensis candidaemia was independently associated with recent intravenous drug use (p 0.01) and chronic liver disease (p 0.03), and infection with species other than C. dubliniensis was independently associated with age<65 years (p 0.02), male sex (p 0.03) and human immunodeficiency virus infection (p 0.05). Presence of sepsis at diagnosis and crude 30-day mortality rates were similar for C. dubliniensis-related, non-C. dubliniensis-related and C. albicans-related candidaemia. Haematological malignancy was the commonest predisposing factor in C. guilliermondii (n=3, 27%) and C. lusitaniae (n=3, 43%) candidaemia. The 30-day mortality rate of C. lusitaniae candidaemia was higher than the overall death rate for all uncommon Candida spp. (42.9% vs. 25%, p not significant). All isolates were susceptible to amphotericin B, voriconazole, posaconazole, and caspofungin; five strains (9%) had fluconazole MIC values of 16-32 mg/L. Candidaemia due to uncommon Candida spp. is emerging among hospital outpatients; certain clinical variables may assist in recognition of this entity.

  13. Pediatric urology and the internet--does an uncommon topic decrease content quality?

    Science.gov (United States)

    Routh, Jonathan C; Gong, Edward M; Nelson, Caleb P

    2009-10-01

    The Internet has become a widely used resource for patients and families to obtain medical information but the quality of information available is highly variable. We sought to determine if Web pages addressing common and uncommon pediatric urology topics differ in terms of quality or characteristics. We performed an Internet search using 5 common conditions (vesicoureteral reflux, hypospadias, prenatal hydronephrosis, cryptorchidism, enuresis) and 5 uncommon conditions (exstrophy, prune belly, posterior urethral valves, Wilms tumor, ureterocele). We recorded total hits, presence of sponsored links, page owner and author type, last update, content quality, readability, accreditation and advertising. Content quality was graded on a 5-point scale for accuracy and completeness of natural history, diagnosis and treatment. We evaluated 100 sites on 10 topics. Common topics had more hits (980,000 vs 194,000) and were more likely to have sponsored advertisements (40% vs 0%) than uncommon topics. No difference was seen between topics in time from last update, owner/author type, financial disclosure, accreditation or advertising. Median quality grade was 4.0. Common topics had higher quality grades for disease natural history and diagnosis. Reading grade level was high and was similar between the groups. Web sites devoted to common pediatric urology topics have higher quality information for disease diagnosis and natural history. Otherwise, the quality of pediatric urology information on the Internet is high for common and uncommon topics. A high reading level is required to use these resources.

  14. J. B. S. Haldane: an uncommon scientist

    Indian Academy of Sciences (India)

    M. S. SWAMINATHAN

    2017-11-24

    Nov 24, 2017 ... After J. B. S. Haldane took residence in India in the mid-1950's he helped many of our state governments in improving agricultural productivity. He advised the. Government of Kerala on methods of improving the pro- ductivity of coconut and overcoming the malady of the root wilt disease. He encouraged ...

  15. Lemierre's syn- drome – the uncommon cold

    African Journals Online (AJOL)

    Kurt

    lence and Lemierre's has become a largely forgotten disease.3,5. The syndrome typically occurs in previously healthy adolescents and young adults, with a short interval between the oropharyngeal infection and the onset of septicaemia.6,7 The most common sites of secondary sep- tic emboli are the lungs (79.8%)2 and.

  16. Sweet’s Syndrome and Inflammatory Bowel Disease - uncommon association

    OpenAIRE

    Gonçalves, P; Miranda, J; Araújo, JM

    2010-01-01

    O Síndrome de Sweet (SSw) é uma dermatose neutrofílica caracterizada pela presença de febre, neutrofilia e lesões cutâneas cuja histologia revela um infiltrado inflamatório difuso neutrofílico da derme. A fisiopatologia deste Síndrome ainda não foi totalmente esclarecida. Pode ser idiopático ou associar-se a diversas patologias (infecciosas, neoplásicas, inflamatórias) pelo que deve ser primariamente considerado como manifestação sistémica de uma doença subjacente. A associação entre a sín...

  17. An uncommon manifestation of shock: Takotsubo syndrome

    OpenAIRE

    Gue, Ying X; Bhandari, Sanjay S; Ahamed, Mubarak

    2017-01-01

    76-year-old female presented following an episode of collapse. She was hypotensive with the paramedics and remained refractory despite fluid resuscitation. Her initial baseline tests revealed an elevated troponin; she subsequently underwent a coronary angiogram that showed mild coronary artery disease. Left ventriculogram was performed, which showed abnormal mid-wall ballooning and severely impaired systolic function, characteristic of Takotsubo syndrome. Echocardiogram confirmed the presence...

  18. An uncommon manifestation of shock: Takotsubo syndrome

    Directory of Open Access Journals (Sweden)

    Ying X Gue

    2017-10-01

    Full Text Available 76-year-old female presented following an episode of collapse. She was hypotensive with the paramedics and remained refractory despite fluid resuscitation. Her initial baseline tests revealed an elevated troponin; she subsequently underwent a coronary angiogram that showed mild coronary artery disease. Left ventriculogram was performed, which showed abnormal mid-wall ballooning and severely impaired systolic function, characteristic of Takotsubo syndrome. Echocardiogram confirmed the presence of diagnosis and presence of left ventricular outflow tract obstruction with high gradient. She was initiated on medical heart failure therapy and improved. Follow-up investigations after 2 months showed complete resolution of systolic dysfunction and symptoms.

  19. Tumefactive multiple sclerosis: an uncommon diagnostic challenge.

    Science.gov (United States)

    Kaeser, Martha A; Scali, Frank; Lanzisera, Frank P; Bub, Glenn A; Kettner, Norman W

    2011-03-01

    This case report describes a rare presentation of multiple sclerosis (MS) that was initially diagnosed as a peripheral nerve lesion in the emergency department. A 30-year-old woman presented to a chiropractic teaching clinic with a complaint of a sudden right foot drop. Magnetic resonance imaging of the brain revealed a large mass in the left parietal lobe with additional white matter lesions. The mass and smaller lesions were consistent with a rare presentation of demyelinating disease, tumefactive MS. The patient was referred to a neurologist for further evaluation and treatment. Her short-term clinical course was punctuated by recurrent myospasms and neurologic deficits. Tumefactive MS may mimic the clinical and magnetic resonance imaging characteristics of glioma or a cerebral abscess. The clinical presentation, pathophysiology, differential diagnosis, role of diagnostic imaging, and treatment options of MS are described. This case report illustrates that the timely diagnosis and optimal treatment of MS require recognition of its varied, sometimes atypical, and often nonspecific clinical and imaging manifestations. Copyright © 2011 National University of Health Sciences. Published by Elsevier Inc. All rights reserved.

  20. An uncommon manifestation of shock: Takotsubo syndrome.

    Science.gov (United States)

    Gue, Ying X; Bhandari, Sanjay S; Ahamed, Mubarak

    2017-12-01

    76-year-old female presented following an episode of collapse. She was hypotensive with the paramedics and remained refractory despite fluid resuscitation. Her initial baseline tests revealed an elevated troponin; she subsequently underwent a coronary angiogram that showed mild coronary artery disease. Left ventriculogram was performed, which showed abnormal mid-wall ballooning and severely impaired systolic function, characteristic of Takotsubo syndrome. Echocardiogram confirmed the presence of diagnosis and presence of left ventricular outflow tract obstruction with high gradient. She was initiated on medical heart failure therapy and improved. Follow-up investigations after 2 months showed complete resolution of systolic dysfunction and symptoms. Takotsubo syndrome can present similarly to ACS.Early use of echocardiography in the acute setting can provide vital information.Takotsubo syndrome can result in hemodynamic instability requiring urgent interventions.Other investigative modalities can be used in conjunction with echocardiography to confirm the diagnosis of Takotsubo syndrome.Prognosis is generally good in patients with Takotsubo syndrome. © 2017 The authors.

  1. Chromosomal imbalances are uncommon in chagasic megaesophagus

    Directory of Open Access Journals (Sweden)

    Silva Ana E

    2010-02-01

    Full Text Available Abstract Background Chagas' disease is a human tropical parasitic illness and a subset of the chronic patients develop megaesophagus or megacolon. The esophagus dilation is known as chagasic megaesophagus (CM and one of the severe late consequences of CM is the increased risk for esophageal carcinoma (ESCC. Based on the association between CM and ESCC, we investigated whether genes frequently showing unbalanced copy numbers in ESCC were altered in CM by fluorescence in situ (FISH technology. Methods A total of 50 formalin-fixed, paraffin-embedded esophageal mucosa specimens (40 from Chagas megaesophagus-CM, and 10 normal esophageal mucosa-NM were analyzed. DNA FISH probes were tested for FHIT, TP63, PIK3CA, EGFR, FGFR1, MYC, CDKN2A, YES1 and NCOA3 genes, and centromeric sequences from chromosomes 3, 7 and 9. Results No differences between superficial and basal layers of the epithelial mucosa were found, except for loss of copy number of EGFR in the esophageal basal layer of CM group. Mean copy number of CDKN2A and CEP9 and frequency of nuclei with loss of PIK3CA were significantly different in the CM group compared with normal mucosa and marginal levels of deletions in TP63, FHIT, PIK3CA, EGFR, CDKN2A, YES and gains at PIK3CA, TP63, FGFR1, MYC, CDNK2A and NCOA3 were detected in few CM cases, mainly with dilation grades III and IV. All changes occurred at very low levels. Conclusions Genomic imbalances common in esophageal carcinomas are not present in chagasic megaesophagus suggesting that these features will not be effective markers for risk assessment of ESCC in patients with chagasic megaesophagus.

  2. Massive swelling of the cervical region: an uncommon manifestation of B cell chronic lymphocytic leukemia.

    Science.gov (United States)

    Becker, Stephan T; Wiltfang, Jörg; Klapper, Wolfram; Repp, Roland; Sinis, Nektarios; Warnke, Patrick H

    2008-12-01

    We report about a 61-year-old woman who attended our Department of Oral and Maxillofacial Surgery complaining about an increasing swelling of her neck over a period of several years and asking for possible plastic surgery options. Further examinations lead us to the diagnosis of an uncommon manifestation of chronic B cell lymphoma. We suggest that plastic surgeons may refer to magnetic resonance tomography imaging and blood cell counts prior to liposuction of a massive swelling of the neck. Accurate reduction of adipose tissue in the obese patient is a common field for plastic surgeons. Thus, liposuction has become a standard regimen to treat adipose swelling. But there may be exceptions to the rule. In this case report, we present an uncommon manifestation of a chronic lymphocytic leukemia which showed a massive soft swelling of the whole neck, mimicking Madelung's disease.

  3. Superior mesenteric artery syndrome: an uncommon cause of ...

    African Journals Online (AJOL)

    Upper gastrointestinal symptoms like vomiting, abdominal pain, abdominal distention may be caused by many conditions like complicated peptic/duodenal ulcer, gastritis or hiatal hernia. However, these symptoms are uncommonly produced by superior mesenteric artery (SMA) syndrome. SMA syndrome is triggered when ...

  4. Primary Ovarian Leiomyoma: An Uncommon Entity ‑ Case Report ...

    African Journals Online (AJOL)

    Among all benign primary ovarian smooth muscle tumors, ovarian leiomyoma, is uncommon, accounting for 0.5-1% of all tumors. Most of these tumors are unilateral, small in size, and generally occur in premenopausal women. This paper presents a case report of primary ovarian leiomyoma, which is a rare entity, in a ...

  5. Cold Antibodies: An uncommon factor in transfusion safety in a ...

    African Journals Online (AJOL)

    Background Cold reacting antibodies with a thermal optimum at 0°C are an uncommon occurrence, and the clinical manifestations are rarely observed in the warm climate of the tropical countries of sub-Saharan Africa. Objective The objective of this presentation is to report two cases in which cold-reacting antibodies were ...

  6. Spontaneous rupture: An uncommon complication of ventral hernia ...

    African Journals Online (AJOL)

    BACKGROUND: Literature is scarce about spontaneous rupture of hernia because spontaneous rupture of here is uncommon (1). Reported cases are complications of incisional hernias, recurrent inguinal hernia, and umbilical hernias. It is potentially life threatening (1) because the ensuing entrapment and tension on ...

  7. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: Median arcuate ligament syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli [Dept. of Radiology, Sakarya University Medical Faculty, Sakarya (Turkmenistan)

    2014-08-15

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case.

  8. Aneurysmal Bone Cyst: An Uncommon Secondary Event in Calcaneal Chondroblastoma.

    Science.gov (United States)

    Barman, Sandip; Diwaker, Preeti; Bansal, Divya; Wadhwa, Neelam; Singh, Gurvinder

    2016-06-01

    Chondroblastoma is an uncommon benign bone tumour, involvement of epiphysis of long bones is typical. Chondroblastoma of the calcaneum is uncommon and its association with secondary aneurysmal bone cyst is even rarer. Only two cases of calcaneal chondroblastoma associated with secondary aneurysmal bone cyst have been reported till date. A 22-year-old male presented to the department of orthopaedics with complains of pain and swelling in the left heel since the last 10 months. On clinico-radiological grounds differentials considered were giant cell tumour of bone and aneurysmal bone cyst. In view of the histopathological findings of bone curettage and results of special stain and immunohistochemical marker, final diagnosis of chondroblastoma with secondary aneurysmal bone cyst, left calcaneum was rendered. Although rare, chondroblastoma should always be considered in osteolytic lesions of calcaneum. The identification of secondary aneurysmal bone cyst component is important as it has higher chances of recurrence than usual chondroblastoma.

  9. Hydrothermal synthesis of magnetite particles with uncommon crystal facets

    OpenAIRE

    Sato, Junki; Kobayashi, Makoto; Kato, Hideki; Miyazaki, Takamichi; Kakihana, Masato

    2014-01-01

    Hydrothermal synthesis of Fe3O4 (magnetite) particles was carried out using organic compounds as morphology control agents to obtain magnetite crystals with uncommon facets. It was established that the morphology of Fe3O4 crystals obtained by hydrothermal treatment of an aqueous solution containing Fe2+ and organic compounds depended on the organic compound used. The shape of the Fe3O4 particles obtained when no additives were used was quasi-octahedral. In contrast, the addition of picolinic ...

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

    Science.gov (United States)

    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.

  11. [Right ventricular myxoma in a child: an uncommon presentation].

    Science.gov (United States)

    Tarmiz, Amine; Mgarrech, Imene; Slim, Mehdi; Kortas, Chokri; Jerbi, Sofiane

    2016-01-01

    The right ventricle is an uncommon location for cardiac myxoma. Its most common complications are pulmonary embolism and obstruction due to pulmonary valve tumor. We report the case of a 11-year old child with repetitive syncopes admitted to Cardiology ward. Echocardiography showed a right ventricular myxoma of 2cm obstructing the pulmonary orifice. Emergency surgical excision was performed under cardiopulmonary bypasss with favorable postoperative course. Anatomo-pathological examination of the surgical specimen confirmed the diagnosis of myxoma. At 18 months follow-up, there was no evidence of tumor recurrence.

  12. Facial vein thrombophlebitis: an uncommon complication of sinusitis

    Energy Technology Data Exchange (ETDEWEB)

    Cotes, Claudia [The University of Texas Medical Branch, Department of Radiology, Galveston, TX (United States); Riascos, Roy [The University of Texas Medical School, Department of Diagnostic and Interventional Imaging, Houston, TX (United States); Swischuk, Leonard E. [The University of Texas Medical Branch, Department of Pediatrics and Pediatric Radiology, Galveston, TX (United States)

    2015-08-15

    Facial vein thrombophlebitis is an uncommon complication of sinusitis. In cases where periorbital swelling complicating sinusitis is diagnosed, clinical findings of swelling and erythema extending beyond the orbital region into the cheek should alert the physician about this unusual complication and the need for further contrast-enhanced imaging and venography. The radiologist must be particularly careful in the evaluation of vascular structures of the face and neck in these children. CT and MRI with contrast material and MR venography are studies that clearly demonstrate the vascular anatomy and possible complications. However, MR venography confirms flow abnormalities within the venous system with the advantage of avoiding radiation exposure to the pediatric patient. (orig.)

  13. European and German food legislation facing uncommon foodstuffs.

    Science.gov (United States)

    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.

  14. Necrotizing sarcoid granulomatosis with an uncommon manifestation: clinicopathological features and review of literature.

    Science.gov (United States)

    Giraudo, Chiara; Nannini, Nazarena; Balestro, Elisabetta; Meneghin, Alessia; Lunardi, Francesca; Polverosi, Roberta; Calabrese, Fiorella

    2014-09-01

    We report a rare case of an incidental diagnosis of necrotizing sarcoid granulomatosis (NSG) in a 60-y-old non-smoking male. The patient was admitted to the hospital for sudden back pain. Chest x-ray revealed areas of parenchymal consolidation and high-resolution computed tomography demonstrated a pulmonary nodular pattern with no lymph node enlargement. All laboratory and pulmonary function tests were normal. Bronchoscopy with bronchoalveolar lavage showed no sign of infection or specific inflammation. The diagnosis of NSG was made by histopathological examination of a surgical lung biopsy and by excluding other causes of granulomatous disease. In paucisymptomatic/asymptomatic patients, as in our case, therapy is not necessary, with a good prognosis and complete recovery. NSG is a rare systemic disease similar to sarcoidosis and Wegener's granulomatosis with a benign clinical course and should always be considered for patients with nodular pulmonary lesions even with subclinical or uncommon features. Copyright © 2014 by Daedalus Enterprises.

  15. Virulence traits and pathogenicity of uropathogenic Escherichia coli isolates with common and uncommon O serotypes.

    Science.gov (United States)

    Gao, Qingqing; Zhang, Debao; Ye, Zhengqin; Zhu, Xiaoping; Yang, Weixia; Dong, Lanmei; Gao, Song; Liu, Xiufan

    2017-03-01

    Urinary tract infections (UTIs) are among the most common human diseases worldwide. This study aimed to collect uropathogenic Escherichia coli (UPEC) isolates from Jiangsu Province and obtain insights into the molecular epidemiology of UPEC in this region. The O serotypes, phylogenetic groups, and virulence factors of 183 UPEC isolates were determined. In this study, we isolated 51 UPEC isolates with common O serotypes including O1, O2, O4, O6, O7, O16, O18 and O75, as well as 35 of those with uncommonly encountered O serotypes including O8, O12, O15, O26, and O74. Groups B2 and D were the most prevalent phylogenetic groups and accounted for 29.5% and 41% of the isolates, respectively. In the tested 13 virulence genes (VGs), tonB and dsdA possessed the highest prevalence rate, followed by fimH, degP and ompR. Several other virulence genes such as fliC, neuC, ireA, and vat had prevalence less than 23%. Moreover, representative isolates belonging to common or uncommon O serotypes with different numbers of VGs were chosen for the pathogenic analyses. Based on the results of 1-day-old chick lethality assay and UTI ascending mouse infection model, our study suggested that the virulence of UPEC isolates for chicks and/or mice depended on both the number of VGs expressed and the O serotypes. Copyright © 2017 Elsevier Ltd. All rights reserved.

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

    Science.gov (United States)

    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.

  17. Common and uncommon manifestations of Wegener granulomatosis at chest CT: radiologic-pathologic correlation.

    Science.gov (United States)

    Martinez, Felipe; Chung, Jonathan H; Digumarthy, Subba R; Kanne, Jeffrey P; Abbott, Gerald F; Shepard, Jo-Anne O; Mark, Eugene J; Sharma, Amita

    2012-01-01

    Wegener granulomatosis is an uncommon necrotizing vasculitis that classically manifests as a clinical triad consisting of upper and lower airway involvement and glomerulonephritis. Other less frequently involved organ systems include the central and peripheral nervous system and large joints. The diagnosis is based on a combination of clinical and laboratory findings. Because thoracic involvement often predominates, chest radiographic findings are often the first to suggest the diagnosis. However, chest computed tomography (CT) has superior sensitivity and specificity for evaluation of the airways, lung parenchyma, and mediastinum, particularly with the use of multiplanar reformatted and three-dimensional images. Common pulmonary radiologic findings include waxing and waning nodules, masses, ground-glass opacities, and consolidation. Airway involvement is usually characterized by circumferential tracheobronchial thickening, which can be smooth or nodular. Pleural effusions are the most common manifestation of pleural disease and can result from primary involvement or be secondary to renal failure. Mediastinal lymphadenopathy is a nonspecific finding and is usually reactive. Uncommon thoracic radiologic manifestations include involvement of the heart and great vessels. CT is the imaging modality of choice for diagnosis, surveillance, and follow-up in patients with Wegener granulomatosis. © RSNA, 2012.

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

    Science.gov (United States)

    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.

  19. Pancreaticoduodenectomy in children: optimising outcome of uncommon paediatric procedures.

    LENUS (Irish Health Repository)

    Yeap, B H

    2012-02-01

    Contemporary surgical practice is increasingly dominated by subspecialisation in response to improved outcome from high volume centres, though uncertainties persist for uncommon paediatric procedures. Three paediatric pancreaticoduodenectomies performed at Our Lady\\'s Children\\'s Hospital, Dublin, over a period of 9 years were evaluated to substantiate their continuing performance by paediatric rather than adult pancreatic surgeons. With ages ranging from 18 months to 8 years old, the mean operating time was 263 minutes, while the average hospital stay was 12 days. There was no perioperative mortality, although complication rate was 100%. Re-operation was required in 33%. The long term outcome of this small paediatric cohort was comparable to adult series despite the low patient accrual, underscoring the advantages of a multidisciplinary approach afforded by tertiary paediatric institutions for intricate yet infrequent operations in children.

  20. Identification of Uncommon Candida Species Using Commercial Identification Systems.

    Science.gov (United States)

    Kim, Tae-Hyoung; Kweon, Oh Joo; Kim, Hye Ryoun; Lee, Mi-Kyung

    2016-12-28

    Recently, several studies have revealed that commercial microbial identification systems do not accurately identify the uncommon causative species of candidiasis, including Candida famata, Meyerozyma guilliermondii, and C. auris. We investigated the accuracy of species-level identification in a collection of clinical isolates previously identified as C. famata (N = 38), C. lusitaniae (N = 1 2), and M. guilliermondii (N = 5) by the Vitek 2 system. All 55 isolates were re-analyzed by the Phoenix system (Becton Dickinson Diagnostics), two matrix-assisted laser desorption ionization-time of flight mass spectrometry analyzers (a Vitek MS and a Bruker Biotyper), and by sequencing of internal transcribed spacer (ITS) regions or 26S rRNA gene D1/D2 domains. Among 38 isolates previously identified as C. famata by the Vitek 2 system, the majority (27/38 isolates, 71.1%) were identified as C. tropicalis (20 isolates) or C. albicans (7 isolates) by ITS sequencing, and none was identified as C. famata. Among 20 isolates that were identified as C. tropicalis, 17 (85%) were isolated from urine. The two isolates that were identified as C. auris by ITS sequencing originated from ear discharge. The Phoenix system did not accurately identify C. lusitaniae, C. krusei, or C. auris. The correct identification rate for 55 isolates was 92.7% (51/55 isolates) for the Vitek MS and 94.6% (52/55 isolates) for the Bruker Biotyper, as compared with results from ITS sequencing. These results suggest that C. famata is very rare in Korea, and that the possibility of misidentification should be noted when an uncommon Candida species is identified.

  1. Childhood Xantho granulomatous Pyelonephritis; an Uncommon Entity; Pielonefritis xantogranulomatorsa en la infancia: una entidad rara

    Energy Technology Data Exchange (ETDEWEB)

    Bravo-Bravo, C.; Martinez-Leon, M. I.; Ceres-Ruiz, L.; Weil-Lara, B. [Hospital Materno-Infantil CHU Carlos Haya. Malaga (Spain)

    2003-07-01

    Xanthogranulomotous pyelonephritis is an uncommon chronic inflammatory illness characterized by the replacement of renal parenchyma with a cellular infiltration of lipid-laden macrophages. There are few cases in the literature which describe the disease in children. Its pathogenesis remains unknown, although in up to 76% of cases it has been related to lithiasic obstruction of the pyeloureteral junction. Escherichia coli and Proteus mirabilis are most often cited as being the causing bacteria. Since neither its clinical characteristics nor radiological manifestations are specific, it is frequently infra diagnosed, Its definitive diagnosis is anatomophatological, and it is treated by nephrectomy. We present the case of a child with poorly evolving pyonephrosis diagnosed after the anatomopathological study of a renal sample. Special not is made of the importance of performing a preoperative diagnosis, and including such in a differential diagnosis with slowly evolving infectious/obstructive processes. (Author) 11 refs.

  2. A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.

    Science.gov (United States)

    de la Parra, David Rivera; Zenteno, Juan Carlos

    2007-12-01

    Oculodentodigital dysplasia (ODDD) is an autosomal dominant disorder that includes a clinical spectrum of craniofacial, neurologic, limb, and ocular malformations. The disease is caused by heterozygous mutations in the 6q22-q23 located GJA1 gene, that encodes connexin 43 (Cx43). In this paper we describe a novel Cx43 mutation (G2V) found in a Mexican eight-year-old boy. This de novo mutation predicts a missense substitution at the second amino acid of Cx43, in the first intracellular domain, and is the most amino-terminal located mutation reported so far. Umbilical hernia and congenital optociliary veins, two uncommon ODDD-associated features, were recognized in our patient. The phenotype of three previously described patients with Cx43 first intracellular domain mutation is discussed and compared with that observed in our patient. This case expands the phenotypic and genotypic spectrum of ODDD.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  5. Thoracolumbar fracture with listhesis - an uncommon manifestation of child abuse

    Energy Technology Data Exchange (ETDEWEB)

    Levin, Terry L.; Blitman, Netta M. [Department of Radiology, Montefiore Medical Center, 111 E. 210th Street, Bronx, New York, NY 10467-2490 (United States); Berdon, Walter E. [Department of Radiology, Babies Hospital, New York Presbyterian Hospital, New York (United States); Cassell, Ian [Department of Radiology, Phoenix Children' s Hospital, Phoenix, AZ (United States)

    2003-05-01

    Thoracolumbar fracture with listhesis (FL) is an uncommon manifestation of child abuse (increasingly known as nonaccidental trauma), with only six prior reports in the literature. This article seeks to call attention to FL of the thoracolumbar spine in abused children and infants. We reviewed plain films, CT and MR images in seven new cases of FL of the thoracolumbar spine in abused children ages 6 months to 7 years, two of whom became paraplegic from their injuries. Findings varied from subtle listhesis of one vertebra on another to frank vertebral dislocation, most commonly at L1/2. Paravertebral calcification was present in all but one case. In two children, thoracolumbar FL was the only radiographic sign of abuse. Radiographic findings of FL of the thoracolumbar spine may be subtle and may be erroneously interpreted as due to a congenital or neoplastic cause. While other signs of child abuse should be sought, spinal injury may be the sole sign of abuse. Recognition of this entity is important to pursue the diagnosis of abuse. (orig.)

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

    Energy Technology Data Exchange (ETDEWEB)

    Schapiro, Andrew H.; Lall, Neil U.; Anton, Christopher G.; Trout, Andrew T. [Cincinnati Children' s Hospital Medical Center, Department of Radiology and Medical Imaging, Cincinnati, OH (United States)

    2017-04-15

    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. (orig.)

  7. Uncommon characteristics of the structure and development of Trichosporon asahii.

    Science.gov (United States)

    Wang, Wen-ling; Yang, Rong-ya; Ao, Jun-hong

    2009-08-05

    Trichosporon asahii (T. asahii) is one of the most important pathogenic fungus in the genus of trichosporon. Although the species identification of T. asahii was based upon the complicated results of morphologic, biochemical and biologic examination, the morphology characteristic is still the first clue to the species. Some common structures of T. asahii had been described such as arthrofilaments and arthroconidia, but other important structures of T. asahii were unclear. Six strains of T. asahii were incubated on the slant and micro culture of Sabouraud's dextrose agar at 30 degrees C for 7 days. Samples were fixed using 2% paraformaldehyde and 2.5% glutaraldehyde. T. asahii was observed under scanning electron microscope and transmission electron microscope. The detailed characteristics of the diverse sites of germination, as well as some uncommon structures such as giant cell, sarcinate, and club-shaped macroconidia, were presented. The pseudohyphae of T. asahii were noted to produce true hyphae, either along the longitude axis or on the flank. T. asahii was noted to have blastic and thallic conidiation. Digitated branches, trichoid structures and septa inside the spores were detected. These results may add our knowledge to the structure and development of T. asahii.

  8. Hydrothermal synthesis of magnetite particles with uncommon crystal facets

    Directory of Open Access Journals (Sweden)

    Junki Sato

    2014-09-01

    Full Text Available Hydrothermal synthesis of Fe3O4 (magnetite particles was carried out using organic compounds as morphology control agents to obtain magnetite crystals with uncommon facets. It was established that the morphology of Fe3O4 crystals obtained by hydrothermal treatment of an aqueous solution containing Fe2+ and organic compounds depended on the organic compound used. The shape of the Fe3O4 particles obtained when no additives were used was quasi-octahedral. In contrast, the addition of picolinic acid, citric acid or pyridine resulted in the formation of polyhedral crystals, indicating the presence of not only {1 1 1}, {1 0 0} and {1 1 0} facets but also high-index facets including at least {3 1 1} and {3 3 1}. When citric acid was used as an additive, octahedral crystals with {1 1 1} facets also appeared, and their size decreased as the amount of citric acid was increased. Thus, control of Fe3O4 particle morphology was achieved by a simple hydrothermal treatment using additives.

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

    Science.gov (United States)

    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.

  10. Alopecia neoplastica: An uncommon presentation of metastatic breast carcinoma

    Directory of Open Access Journals (Sweden)

    Felipe Ladeira de Oliveira

    2016-12-01

    Full Text Available Cutaneous metastasis may correspond to the initial clinical presentation of hidden internal malignancies. In patients presenting said neoplasia, clinical manifestations of breast cancer reaches 23.9%. Considering that neoplastic alopecia appears as an unusual pattern of the said metastasis, this report describes a case of such uncommon neoplastic alopecia which presents itself as a cutaneous metastasis of rapid progression in a patient with prior breast cancer history. We present a 47-year-old female patient reporting lesions at the scalp, and who was asymptomatic with a 1-year evolution. The patient reported prior breast cancer history and presence of lung metastasis, and was undergoing chemotherapy at the time of consultation. A dermatological evaluation showed only a nodular lesion with erythematous surface and a diameter measuring about 4 cm, firm in consistency, and immovable. She was routed to the Department of Dermatological Surgery, and the results from histopathology were consistent with a diagnosis of metastatic breast adenocarcinoma. Neoplastic alopecia appears as an unusual form of cutaneous metastasis which is predominantly described in association with breast cancer. The lesion’s clinical features play a crucial role at the differential diagnosis, as the presence of erythema could distinguish neoplastic alopecia from alopecia areata. The existence of cutaneous metastasis leads to unfavorable outcomes. As a conclusion, cutaneous evaluation of patients is essential for treating visceral metastases, since the forms of cutaneous metastasis are diverse and can also affect the scalp.

  11. A tumefactive multiple sclerosis lesion in the brain: An uncommon site with atypical magnetic resonance image findings

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Min Sun; Kim, Hyun Sook; Kim, Jae Hoon; Kim, Eun Kyung; Choi, Yun Sun [Eulji Hospital, Eulji University, Seoul (Korea, Republic of)

    2013-11-15

    Tumefactive multiple sclerosis (MS) is a rare type of demyelinating disease. Typical magnetic resonance (MR) image findings show incomplete ring enhancement with a mild mass effect. This lesion is otherwise indistinguishable from other mass-like lesions in the brain. Knowledge of the MR imaging findings for tumefactive MS is thus helpful for correct diagnosis and appropriate therapy. In this report we describe the MR image findings for pathology-confirmed tumefactive MS in an uncommon location, alongside a discussion of its aggressive features.

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    Abderrahim El Bouazzaoui

    2010-06-01

    Full Text Available Dislocation of temporo-mandibular joint (TMJ is an infrequent disease but still almost spectacular. This disease consists of a permanent, to some extent complete disruption of the temporo-mandibular joint. These dislocations often occurs 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 young 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. Obstetrical analgesia was not possible so the parturient cried in a strong manner during labour. Ten minutes after admission, the patient delivered vaginally with episiotomy. She gave birth to twins weighing 2800g and 2400g. During labour, and effort of crying, the patient presented a sudden and immediate loss of function of the temporo-mandibular joint, with difficulty of speaking, the mouth permanently opened, with the chin lowered and thrown forward. The examination found an emptiness of the glenoid fossa of the temporo-mandibular joint in both sides. The diagnosis of dislocation of the TMJ has established. Performance of special radiologic screening to study the TM was technically not possible. A CT scan of facial bones has been achieved so objectifying a bilateral dislocation of TMJ. The reduction of this dislocation was performed in the operating room under sedation

  14. Common Symptoms from an Uncommon Infection: Gastrointestinal Anisakiasis

    Directory of Open Access Journals (Sweden)

    Yuto Shimamura

    2016-01-01

    Full Text Available Clinicians can be forgiven for thinking of anisakiasis as a rare condition low in the differential diagnosis of abdominal pain. Gastrointestinal anisakiasis is a zoonotic parasitic disease caused by consumption of raw or undercooked seafood infected with nematodes of the genus Anisakis. Even though the reported cases indicate that this is a rare disease, the true incidence of the disease could be potentially higher than what is reported in the literature as cases can go undiagnosed. Diagnosis and treatment of gastric anisakiasis are made by a compatible dietary history, direct visualization, and removal of the larvae via gastroscopy. Serologic testing and imaging studies are useful in the diagnosis of intestinal anisakiasis and conservative management should be considered. This disease may mimic other diseases and lead to unnecessary surgery. This emphasizes the importance of suspecting gastrointestinal anisakiasis by history taking and by other diagnostic modalities.

  15. Viral infection is not uncommon in adult patients with severe hospital-acquired pneumonia.

    Directory of Open Access Journals (Sweden)

    Hyo-Lim Hong

    Full Text Available BACKGROUND: Viral pathogens have not generally been regarded as important causes of severe hospital-acquired pneumonia (HAP, except in patients with hematologic malignancy or transplant recipients. We investigated the role and distribution of viruses in adult with severe HAP who required intensive care. METHODS: From March 2010 to February 2012, adult patients with severe HAP required admission to the intensive care unit (ICU, 28-bed medical ICU in a tertiary care hospital, were prospectively enrolled. Respiratory viruses were detected using multiplex reverse-transcription polymerase chain reaction and/or shell vial culture. RESULTS: A total of 262 patients were enrolled and 107 patients (40.8% underwent bronchoscopic BAL for etiologic diagnosis. One hundred and fifty-six patients (59.5% had bacterial infections and 59 patients (22.5% had viral infections. Viruses were detected in BAL fluid specimens of 37 patients (62.7%, 37/59. The most commonly identified viruses were respiratory syncytial virus and parainfluenza virus (both 27.1%, 16/59, followed by rhinovirus (25.4%, 15/59, and influenza virus (16.9%, 10/59. Twenty-one patients (8.0%, 21/262 had bacterial-viral coinfections and Staphylococcus aureus was the most commonly coexisting bacteria (n = 10. Viral infection in non-immunocompromised patients was not uncommon (11.1%, 16/143, although it was not as frequent as that in immunocompromised patients (36.4%, 43/119. Non-immunocompromised patients were significantly older than immunocompromised patients and had significantly higher rates of underlying chronic obstructive pulmonary disease, tuberculous destroyed lung and chronic kidney disease. The 28 day mortalities of patients with bacterial infections, viral infections and bacterial-viral coinfections were not significantly different (29.5%, 35.6% and 19.0%, respectively; p = 0.321. CONCLUSIONS: Viral pathogens are not uncommon in adult patients with severe HAP who required ICU admission

  16. Cytomegalovirus Colitis: An Uncommon Mimicker of Common Colitides.

    Science.gov (United States)

    Baniak, Nick; Kanthan, Rani

    2016-08-01

    Cytomegalovirus latency, though ubiquitous in the human population, is known to cause colitis in both immunocompromised and immunocompetent hosts. Furthermore, the clinical, endoscopic, and histologic appearance of cytomegalovirus colitis can mimic that of inflammatory bowel disease, an extremely well-documented disease. In this context, though many reports have looked at inflammatory bowel disease with superimposed cytomegalovirus infection, less attention has been paid to cytomegalovirus as a primary cause of isolated colitis. Owing to the rarity of this phenomenon, it is important to consider this diagnosis and implement proper testing to avoid misdiagnosis and mismanagement.

  17. Cytomorphological profile of neoplastic effusions: An audit of 10 years with emphasis on uncommonly encountered malignancies

    Directory of Open Access Journals (Sweden)

    Sanjay Gupta

    2012-01-01

    Conclusions: Cytology is a useful tool to detect malignant effusions. However, in uncommon malignancies presenting as effusions, a detailed clinical history and ancillary investigations are often required to make a correct diagnosis.

  18. Uncommon Mixed Type I and II Choledochal Cyst: An Indonesian Experience

    Directory of Open Access Journals (Sweden)

    Fransisca J. Siahaya

    2013-01-01

    Full Text Available Bile duct cyst is an uncommon disease worldwide; however, its incidence is remarkably high in Asian population, primarily in children. Nevertheless, the mixed type choledochal cysts are extremely rare especially in adults. A case report of a 20-year-old female with a history of upper abdominal pain that was diagnosed with cholecystitis with stone and who underwent laparoscopic cholecystectomy is discussed. Choledochal malformation was found intraoperatively. Magnetic resonance cholangiography (MRCP and USG after first surgery revealed extrahepatic fusiform dilatation of the CBD; therefore, provisional diagnosis of type I choledochal cyst was made. Complete resection of the cyst was performed, and a mixed type I and II choledochal cyst was found intraoperatively. Bile duct reconstruction was carried out with Roux-en-Y hepaticojejunostomy. The mixed type I and II choledochal cysts are rare in adults, and this is the third adult case that has been reported. The mixed type can be missed on radiology imaging, and diagnosing the anomaly is only possible after a combination of imaging and intraoperative findings. Mixed type choledochal cyst classification should not be added to the existing classification since it does not affect the current operative techniques.

  19. Uncommon manifestations of scrub typhus encephalitis in two cases: Clinical and magnetic resonance imaging findings

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    Heo, Young Jin; Jeong, Hae Woong [Dept. of Radiology, Inje University Busan Paik Hospital, Busan (Korea, Republic of)

    2015-11-15

    Scrub typhus is a well-known acute febrile illness caused by Orientia tsutsugamushi. This disease has multiorgan involvement, which includes the lungs, heart, liver, spleen, and the central or peripheral nervous system. Scrub typhus involving the central nervous system (CNS) is not rare. However, meningitis and meningoencephalitis can cause changes in mentation and death and are therefore associated with a poor prognosis. We report two consecutive cases of scrub typhus with CNS involvement. One patient presented with extensive white matter involvement, similar to that observed in acute disseminated encephalomyelitis, whereas the other patient presented with subependymal enhancement along the lateral ventricles. To the best of our knowledge, scrub typhus encephalitis, with extensive white matter involvement and subependymal enhancement, are very rarely described findings in the previous literature. Our patients did not show complete recovery, but the symptoms resolved with treatment. Recognizing these uncommon radiologic findings of scrub typhus may be helpful in the early diagnosis of scrub typhus with CNS involvement, which may alter the prognoses of patients.

  20. Orchestration of an uncommon maturation cascade of the house dust mite protease allergen quartet

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    Marie-Eve eDumez

    2014-03-01

    Full Text Available In more than 20% of the world population, sensitization to house dust mite (HDM allergens triggers typical allergic diseases such as allergic rhinitis and asthma. Amongst the 23 mite allergen groups hitherto identified, groups 1 are cysteine proteases belonging to the papain-like family whereas groups 3, 6 and 9 are serine proteases displaying trypsin, chymotrypsin and collagenolytic activities, respectively. While these proteases are more likely to be involved in the mite digestive system, they also play critical roles in the initiation and in the chronicity of the allergic response notably through the activation of innate immune pathways. All these allergenic proteases are expressed in mite as inactive precursor form. Until recently, the exact mechanisms of their maturation into active proteases remained to be fully elucidated. Recent breakthroughs in the understanding of the activation mechanisms of mite allergenic protease precursors have highlighted an uncommon and unique maturation pathway orchestrated by group 1 proteases that tightly regulates the proteolytic activities of groups 1, 3, 6 and 9 through complex intra- or intermolecular mechanisms. This review presents and discusses the currently available knowledge of the activation mechanisms of group 1, 3, 6 and 9 allergens of Dermatophagoides pteronyssinus laying special emphasis on their localization, regulation and interconnection.

  1. Comparison of uncommon EGFR exon 21 L858R compound mutations with single mutation.

    Science.gov (United States)

    Peng, Liang; Song, Zhigang; Jiao, Shunchang

    2015-01-01

    Non-small-cell lung cancer with epidermal growth factor receptor (EGFR) mutation is sensitive to EGFR tyrosine kinase inhibitors (TKIs). But little is known about the response to EGFR TKIs and the prognostic role of compound mutations. This study compared the uncommon EGFR exon 21 L858R compound mutations with single mutation to characterize EGFR compound mutations and investigated their response to EGFR TKI treatment. We retrospectively screened 799 non-small-cell lung cancer patients from August 1, 2009 to June 1, 2012 by EGFR mutation testing. EGFR mutations were detected in 443 patients, with 22 (4.97%) compound mutations. Subsequently, six patients with EGFR exon 21 L858R compound mutations and 18 paired patients with single L858R mutation were well characterized. Finally, we also analyzed the EGFR TKI treatment response and patients' outcomes of compound or single L858R mutations. There was no differential treatment effect on the disease control rate and objective response rate between the L858R compound mutations and single mutation groups. No significant difference in overall survival or progression-free survival of these two groups was found by log-rank test. In conclusion, we demonstrated that no significant difference was detected in the response to EGFR TKIs and patients' outcomes in the compound and single mutation groups.

  2. Pericardial Effusion due to Primary Malignant Pericardial Mesothelioma: A Common Finding but an Uncommon Cause

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    Valery Istomin

    2016-01-01

    Full Text Available This case report describes a 37-year-old female who was admitted to our Emergency Department because of shortness of breath. On physical examination, she had dyspnea and tachycardia and blood pressure was 80/50 mmHg with a pulsus paradoxus of 22 mmHg. Neck veins were distended, heart sounds were distant, and dullness was found on both lung bases. Her chest X-ray revealed bilateral pleural effusion and cardiomegaly. On both computed tomography and echocardiography the heart was of normal size and a large pericardial effusion was noted. The echocardiogram showed signs of impending tamponade, so the patient underwent an emergent pericardiocentesis. No infectious etiology was found and she was assumed to have viral pericarditis and was treated accordingly. However, when the pericardial effusion recurred and empirical therapy for tuberculosis failed, a pericardial window was performed. A typical staining pattern for mesothelioma was found on her pericardial biopsy specimen. Since no other mesodermal tissue was affected, a diagnosis of primary malignant pericardial mesothelioma was made. Chemotherapy was not effective and she passed away a year after the diagnosis was made. This case highlights the difficulties in diagnosing this uncommon disease in patients that present with the common finding of pericardial effusion.

  3. Congenital Hepatic Fibrosis: An Uncommon Cause of Chronic Renal Failure

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    A Azarfar

    2014-04-01

    Full Text Available Congenital Hepatic Fibrosis (CHF is a rare disease that affects both the liver and kidneys.  Congenital hepatic fibrosis (CHF is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Affected individuals also have impaired renal function, usually caused, in children and teenagers, by an autosomal recessive polycystic kidney disease (ARPKD. Impaired renal function associated with CHF in adults is caused by an autosomal dominant polycystic kidney disease (ADPKD. Case presentation: We report the case of a 8-year-old Iranian girlwas admitted to our hospital for evaluation ofrenal failure. In patient hepatomegaly was noted incidentally on a routine physical examination and then kidney biopsy showed global sclerosis and   A liver biopsy revealed proliferation of collagen fibres surrounding the portal area, a finding that was compatible with congenital hepatic fibrosisand our patient was scheduled for kidney and  liver transplantation. Conclusion: The relationship of ARPKD to CHF is the subject of substantial controversy. Some clinicians suggest that the two conditions represent one disorder with a range of clinical/pathological presentations Key word: Congenital Hepatic Fibrosis Polycystic Kidney Disease, CRF.

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

    Science.gov (United States)

    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.

  5. Sciatic nerve tumor and tumor-like lesions - uncommon pathologies

    Energy Technology Data Exchange (ETDEWEB)

    Wadhwa, Vibhor; Thakkar, Rashmi S.; Carrino, John A.; Chhabra, Avneesh [Johns Hopkins University School of Medicine, Russell H. Morgan Department of Radiology and Radiological Science, Baltimore, MD (United States); Maragakis, Nicholas; Hoeke, Ahmet; Sumner, Charlotte J.; Lloyd, Thomas E. [Johns Hopkins University School of Medicine, Department of Neurology, Baltimore, MD (United States); Belzberg, Allan J. [Johns Hopkins University School of Medicine, Department of Neurosurgery, Baltimore, MD (United States)

    2012-07-15

    Sciatic nerve mass-like enlargement caused by peripheral nerve sheath tumors or neurocutaneous syndromes such as neurofibromatosis or schwannomatosis has been widely reported. Other causes of enlargement, such as from perineuroma, fibromatosis, neurolymphoma, amyloidosis, endometriosis, intraneural ganglion cyst, Charcot-Marie-Tooth disease, and chronic inflammatory demyelinating polyneuropathy are relatively rare. High-resolution magnetic resonance imaging (MRI) is an excellent non-invasive tool for the evaluation of such lesions. In this article, the authors discuss normal anatomy of the sciatic nerve and MRI findings of the above-mentioned lesions. (orig.)

  6. Diagnosis of some common and uncommon hyperpigmentation disorders in children

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    Alain Taıeb

    2014-12-01

    Full Text Available Skin color is an important social and cultural characteristic, which explains why the parents of children with any deviations from normal pigmentation are concerned about this problem. This article discusses selected pigment anomalies present at birth or appearing in the first months of life. They may be transient or permanent, localized (as in café-au-lait spots or segmental, or more rarely, complex or generalized. As with most pigmentary diseases, a physical examination, including Wood's lamp examination and a detailed history, is usually sufficient for diagnosis. Time of onset, distribution pattern, and associated clinical and sometimes histopathologic or molecular findings are helpful in differentiating these disorders.

  7. Psychos’ Haunting Memories: A(n (Uncommon Literary Heritage

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    Maria Antónia Lima

    2015-07-01

    Full Text Available In our times, one of the most prevailing forms of terror is certainly the psychological terror. In the history of literature and cinema, it’s impossible to forget some very widely known characters called psychos, especially those created by Edgar Allan Poe, Robert Bloch, Stephen King, Bret Easton Ellis, Sarah Kane and Patrick McGrath. Usually, they are haunted not only by their own private memories, but also by a literary memory that associates them to a common heritage, as if each psychotic character belonged to a very old gothic family, in which every member had been cursed to inherit the disease of his ancestors or the sins of his fathers. Haunted by images of their past, that recurrently return to the present, these psychos defy the barriers of time and all the traditional distinctions between reality and imagination, because one can never be sure if the stories are really about murders or about victims of their very diseased minds. Uncertainties and doubts disturb the reader as they also disturb the main character in search of a lost identity. Keywords: Psychos, Terror, Haunting Memories, Literary Heritage, Poe.

  8. Lupus Flare: An Uncommon Presentation of Disseminated Gonorrhea

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    Uyen To

    2014-01-01

    Full Text Available Gonorrhea is one of the most common sexually transmitted diseases in the US with 700,000 annual cases. Although most cases of gonorrhea are localized, approximately 0.5–3% become disseminated. Here we discuss a rare case of a patient with systemic lupus erythematosus (SLE who developed septic shock from disseminated gonorrhea infection (DGI. Our patient is a 24-year-old woman with SLE, mixed connective tissue disease with cutaneous vasculitis, and lupus nephritis who presented with several weeks of malaise and generalized body aches associated with a diffuse rash along her fingers, palms, and trunk. Infectious workup was unrevealing with the exception of a positive gonorrhea test obtained from a cervical swab. Given her symptoms of tenosynovitis, the appearance of her skin lesions, and her positive gonorrhea test, she was diagnosed with septic shock secondary to DGI. With antibiotic treatment, the patient reported a dramatic improvement of the pain in her swollen joints and her rash receded. Patients diagnosed with SLE carry an increased risk of gonorrhea regardless of whether or not they are being treated for their SLE. Although it is well-documented that SLE is associated with severe DGI, few describe it resulting in overt septic shock.

  9. Purulent Pericarditis: An Uncommon Presentation of a Common Organism.

    Science.gov (United States)

    Kashif, Muhammad; Raiyani, Henish; Niazi, Masooma; Gayathri, Kamalakkannan; Vakde, Trupti

    2017-04-06

    BACKGROUND In the modern antibiotic era, Streptococcus agalactiae infection of the endocardium and pericardial space is a rare occurrence. However, once the disease spreads it can lead to life-threatening illness despite advances in diagnostic and treatment modalities, partly because the symptoms and signs associated with pericarditis are frequently missing, and due to the rarity of the disease, diagnosis is often overlooked. We report an extremely rare case of purulent pericarditis caused by Streptococcus agalactiae. CASE REPORT A 65-year-old diabetic woman presented with generalized weakness, high-grade fever, and altered mental status. There were no signs or symptoms suggestive of cardiac tamponade on presentation. A computerized tomography (CT) scan of the chest showed a small pericardial effusion. She was managed for diabetic ketoacidosis and sepsis. An electrocardiogram was significant for new-onset atrial fibrillation. Her clinical status deteriorated rapidly as she developed acute hypoxic respiratory failure and shock. A bedside echocardiogram showed large pericardial effusion around the right ventricle and right ventricular diastolic collapse. She developed cardiac arrest, and during resuscitation bedside pericardiocentesis was done with drainage of 15 cc of serosanguineous fluid. However, the patient could not be revived. Subsequently, blood cultures grew Streptococcus agalactiae a day after she died. On autopsy, she was found to have findings of infective endocarditis and purulent pericarditis. CONCLUSIONS A high index of clinical suspicion is crucial when acute pericarditis is suspected, for early diagnosis and for timely initiation of appropriate therapy with antibiotics and aggressive pericardial drainage to prevent fatal outcome.

  10. Ludwig's angina: an uncommon cause of chest pain.

    Science.gov (United States)

    Ocasio-Tascón, María Elena; Martínez, Miriam; Cedeño, Arturo; Torres-Palacios, Alfonso; Alicea, Edwin; Rodríguez-Cintrón, William

    2005-05-01

    A 71-year-old male with coronary artery disease, hypertension, diabetes mellitus, tobacco and opioid dependence came to the emergency room complaining of one episode of retrosternal chest pain oppressive in nature of one day of evolution. He had acute respiratory distress and required mechanical ventilation. The initial impression was myocardial ischemia, but electrocardiography and cardiac enzymes ruled it out. During the following hours, neck and tongue edema developed. He was started on broad-spectrum antibiotics empirically. Neck computed tomography scan revealed a left parapharyngeal and submandibular abscess. The abscess was drained. The source of infection was found on the second molar of the left lower jaw. The patient improved and was successfully weaned from mechanical ventilation. Despite advances in therapy, Ludwig's angina remains a potentially lethal infection in which early recognition plays a crucial role.

  11. Wegener granulomatosis as an uncommon cause of panhypopituitarism in childhood.

    Science.gov (United States)

    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.

  12. Splanchnic Vein Thrombosis - an Uncommon Complication after Laparoscopic Sleeve Gastrectomy

    Directory of Open Access Journals (Sweden)

    Tanja Carli

    2016-04-01

    Full Text Available Background: Laparoscopic sleeve gastrectomy (LSG is an innovative and relatively safe surgical approach for weight reduction in morbidly obese people. Splanchnic vein thrombosis (SVT is an extremely rare complication of LSG and, if not recognized, carries a high mortality rate. This paper highlights a potentially lethal condition of SVT after LSG. Case Report: A 37-year-old morbidly obese woman was referred to our institution for LSG. Three weeks after the intervention, she was readmitted with abdominal pain, vomiting, nausea, diarrhea, and fever with positive family anamnesis to viral disease. Abdominal X-ray as well as utrasonography were both normal, and no X-ray contrast medium leakage was observed. One week later, she was readmitted with septic condition. An abdominal computed tomography scan diagnosed lienal vein thrombosis along its whole length and partial thrombosis of the superior mesenteric vein. Conclusion: SVT presents very heterogeneously, which makes it extremely challenging to diagnose and to make an appropriate treatment decision. With regard to the high prevalence of obesity and the increasing frequency of LSG, prompt diagnosis and management are crucial.

  13. [Uncommon cutaneous presentation of visceral Leishmaniasis associated with HIV].

    Science.gov (United States)

    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.

  14. Pseudomonas aeruginosa: an uncommon cause of diabetic foot infection.

    Science.gov (United States)

    Young, Heather; Knepper, Bryan; Hernandez, Whitney; Shor, Asaf; Bruntz, Merribeth; Berg, Chrystal; Price, Connie S

    2015-03-01

    Pseudomonas aeruginosa has traditionally been considered a common pathogen in diabetic foot infection (DFI), yet the 2012 Infectious Diseases Society of America guideline for DFI states that "empiric therapy directed at P aeruginosa is usually unnecessary." The objective of this study was to evaluate the frequency of P aeruginosa isolated from bone or tissue cultures from patients with DFI. This study is a cross-sectional survey of diabetic patients presenting with a foot infection to an urban county hospital between July 1, 2012, and December 31, 2013. All of the patients had at least one debridement procedure during which tissue or bone cultures from operative or bedside debridements were obtained. The χ(2) test and the t test of means were used to determine relationships between variables and the frequency of P aeruginosa in culture. The median number of bacteria isolated from DFI was two. Streptococcus spp and Staphylococcus aureus were the most commonly isolated organisms; P aeruginosa was isolated in only five of 112 patients (4.5%). The presence of P aeruginosa was not associated with the patient's age, glycosylated hemoglobin level, tobacco abuse, the presence of osteomyelitis, a prescription for antibiotic drugs in the preceding 3 months, or the type of operative procedure. Pseudomonas aeruginosa was an infrequent isolate from DFI in this urban, underserved diabetic population. The presence of P aeruginosa was not associated with any measured risk factors. By introducing a clinical practice guideline, we hope to discourage frontline providers from using routine antipseudomonal antibiotic drugs for DFI.

  15. Kawasaki Disease Presenting as Acute Clinical Hepatitis

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    Seyed Ali Jafari

    2013-12-01

    Full Text Available Kawasaki disease is a systemic vasculitis of children. Among gastrointestinal symptoms of this disease jaundice occurs uncommonly. We present a 23 month boy with icter and clinical hepatitis and final diagnosis of kawasaki disease.

  16. Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders

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    Kara M. Smith

    2015-02-01

    Full Text Available Background: In addition to the established indications of tremor and dystonia, deep brain stimulation (DBS has been utilized less commonly for several hyperkinetic movement disorders, including medication-refractory myoclonus, ballism, chorea, and Gilles de la Tourette (GTS and tardive syndromes. Given the lack of adequate controlled trials, it is difficult to translate published reports into clinical use. We summarize the literature, draw conclusions regarding efficacy when possible, and highlight concerns and areas for future study.Methods: A Pubmed search was performed for English-language articles between January 1980 and June 2014. Studies were selected if they focused primarily on DBS to treat the conditions of focus. Results: We identified 49 cases of DBS for myoclonus-dystonia, 21 for Huntington's disease, 15 for choreacanthocytosis, 129 for GTS, and 73 for tardive syndromes. Bilateral globus pallidus interna (GPi DBS was the most frequently utilized procedure for all conditions except GTS, in which medial thalamic DBS was more common. While the majority of cases demonstrate some improvement, there are also reports of no improvement or even worsening of symptoms in each condition. The few studies including functional or quality of life outcomes suggest benefit. A limited number of studies included blinded on/off testing. There have been two double-blind controlled trials performed in GTS and a single prospective double-blind, uncontrolled trial in tardive syndromes. Patient characteristics, surgical target, stimulation parameters, and duration of follow-up varied among studies.Discussion: Despite these extensive limitations, the literature overall supports the efficacy of DBS in these conditions, in particular GTS and tardive syndromes. For other conditions, the preliminary evidence from small studies is promising and encourages further study.

  17. Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders

    Science.gov (United States)

    Smith, Kara M.; Spindler, Meredith A.

    2015-01-01

    Background In addition to the established indications of tremor and dystonia, deep brain stimulation (DBS) has been utilized less commonly for several hyperkinetic movement disorders, including medication-refractory myoclonus, ballism, chorea, and Gilles de la Tourette (GTS) and tardive syndromes. Given the lack of adequate controlled trials, it is difficult to translate published reports into clinical use. We summarize the literature, draw conclusions regarding efficacy when possible, and highlight concerns and areas for future study. Methods A Pubmed search was performed for English-language articles between January 1980 and June 2014. Studies were selected if they focused primarily on DBS to treat the conditions of focus. Results We identified 49 cases of DBS for myoclonus-dystonia, 21 for Huntington's disease, 15 for choreacanthocytosis, 129 for GTS, and 73 for tardive syndromes. Bilateral globus pallidus interna (GPi) DBS was the most frequently utilized procedure for all conditions except GTS, in which medial thalamic DBS was more common. While the majority of cases demonstrate some improvement, there are also reports of no improvement or even worsening of symptoms in each condition. The few studies including functional or quality of life outcomes suggest benefit. A limited number of studies included blinded on/off testing. There have been two double-blind controlled trials performed in GTS and a single prospective double-blind, uncontrolled trial in tardive syndromes. Patient characteristics, surgical target, stimulation parameters, and duration of follow-up varied among studies. Discussion Despite these extensive limitations, the literature overall supports the efficacy of DBS in these conditions, in particular GTS and tardive syndromes. For other conditions, the preliminary evidence from small studies is promising and encourages further study. PMID:25713746

  18. Adenoid cystic carcinoma of the breast: truly uncommon or easily overlooked?

    Science.gov (United States)

    Sheen-Chen, Shyr-Ming; Eng, Hock-Liew; Chen, Wei-Jen; Cheng, Yu-Fan; Ko, Sheung-Fat

    2005-01-01

    Adenoid cystic carcinoma of the breast is an uncommon histologic form of breast cancer, comprising in most series less than 1% of all mammary cancers. Due to the rarity, little information about its presentation on image studies has been noted in the literature. Here we report two additional cases with emphasis on the intriguing image presentations. A 67-year-old woman came to our clinic with the chief complaint of mastodynia. No obvious palpable mass of breast was found on physical examination. Mammography showed a small well-defined nodule in the medial part of the left breast without mammographic evidence of malignancy. Ultrasonography showed a 1.5 cm nodule with well-defined margin and heterogenous echogenicity in the medial part of the left breast. Unusually, a painful sensation was experienced on compression by the probe. The final pathological report was adenoid cystic carcinoma. A 48-year-old woman also came to our clinic with the chief complaint of mastodynia. No obvious palpable mass of breast was found on physical examination. Mammography showed dense mammary tissue with no mammographic evidence of malignancy. Ultrasonography showed two contiguous well-defined nodules with heterogenous echogenicity in the upper, middle part of the left breast. Unusually, a painful sensation was also noted on compression by the probe. Histopathological examination showed typical features of an adenoid cystic carcinoma. Adenoid cystic carcinoma of the breast fails to show the typical appearance of invasive ductal carcinoma on both mammogram and ultrasonography, probably due to its relatively well-defined nature with less surrounding architectural disruption and fibrosis. Hence a "negative" finding or a benign-looking breast lesion on mammography cannot completely exclude the existence of this disease. The presence of a painful breast lesion without obvious inflammatory evidence while compressed is a meaningful clue, which should lead to the suspicion of adenoid cystic

  19. BAHNG score: predictive model for detection of subjects with the oropharynx colonized by uncommon microorganisms.

    Science.gov (United States)

    González-Del Castillo, J; Teja-Marina, J; Candel, F J; Barberán, J; Moreno-Cuervo, A; Chiarella, F; López-González, L; Ramos-Cordero, P; Martín-Sánchez, F J

    2017-11-06

    Pneumonia is most frequently produced by the microaspiration of flora that colonizes the oropharynx. Etiological diagnosis of pneumonia is infrequent in clinical practise and empirical treatment should be prescribed. The aims of the present study were to determine the factors associated with oropharynx colonization by uncommon microorganisms (UM) and to develop a predictive model. A cross-sectional study that included all pa-tients living in one long-term care facilities was developed. Demographic, comorbidities, basal functional status and clinical data were collected. To determinate the oropharyngeal colonization, a single sample of pharynx was obtained for each subject using a cotton swab. A total of 221 subjects were included, mean age 86.27 (SD 8.05) years and 157 (71%) were female. In 32 (14.5%) subjects UM flora was isolated, Gram-negative bacilli in 16 (7.2%) residents, and Staphylococcus aureus in 16 (7.2%). The predictive model included the presence of hypertension, neuromuscular disease, Barthel <90 and use of PEG. The BAHNG score (BArthel, Hypertension, Neuromuscular, Gastrostomy), showed an area under the curve of 0.731 (CI 95% 0.643-0.820; p<0.001). We have classified patients according to this score in low (0-2 points), intermediate (3-5 points) and high risk (≥ 6). The probability of UM colonization in the oropharyngeal based on this classification is 4.1%, 15.8% and 57.1% for low, intermediate and high risk, respectively. The BAHNG score could help in the identifications of elderly patients with high risk of colonization by UM. In case of pneumonia the evaluation of the subject through this score could help in the initial decisions concerning antibiotic treatment.

  20. Hairy cell leukemia: Uncommon clinical features, unusual sites of involvement and some rare associations.

    Science.gov (United States)

    Tadmor, Tamar; Polliack, Aaron

    2015-12-01

    Unusual clinical manifestations and associations with auto-immunity or other systemic disorders are uncommon clinical features of hairy cell leukemia (HCL). The exact prevalence of these rare associations is difficult to determine as they are mostly published as anecdotal case reports and generally not included in larger published series. This chapter deals with uncommon clinical manifestations and rare sites of involvement in HCL. It also summarizes the association with systemic hemato-oncological disorders as well as second malignancies, based on review of the relevant literature and from personal experience. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Hereditary angioderma: an uncommon cause of acute abdomen. Abdominal computed tomography and ultrasound findings; Angioedema hereditario: una causa infrecuente de abdomen agudo. Hallazgos en la TC e ecografia abdominal

    Energy Technology Data Exchange (ETDEWEB)

    Cruz, R.A. de la; Oliver, J. M.; Bueno, A.; Albillos, J. C. [Fundacion Hospital Alcorcon. Madrid (Spain)

    2002-07-01

    We present an uncommon case of acute abdomen in a patient with hereditary angioderma. The ultrasound and CT findings described may suggest this diagnosis, thus avoiding useless surgical interventions in patients in whom the disease has not been previously diagnosed. (Author) 19 refs.

  2. An uncommon cause of progressive visual loss in a heavy smoker ...

    African Journals Online (AJOL)

    Loss of vision due to eye metastasis is generally uncommon, representing an ophthalmological diagnostic and therapeutic challenge. We here report a case of a smoker patient finally diagnosed with lung cancer, whose initial symptom was visual loss due to choroidal metastasis. Given that the majority of subjects ...

  3. Uncommon breast tumors in perspective: incidence, treatment and survival in the Netherlands.

    NARCIS (Netherlands)

    Louwman, M.W.; Vriezen, M.; Beek, M.W. van; Nolthenius-Puylaert, M.C.; Sangen, M.J. van der; Roumen, R.M.H.; Kiemeney, L.A.L.M.; Coebergh, J.W.W.

    2007-01-01

    The relatively small group of patients with breast tumors other than the ductal, lobular or mixed ducto-lobular types, has reached nonnegligible numbers due to the ongoing increase in the incidence of breast cancer. We investigated stage and grade distribution of uncommon breast tumors using the

  4. Vaginal and (uncommon) cervical cancers in the Netherlands, 1989-2003

    NARCIS (Netherlands)

    van der Aa, Maaike A.; Helmerhorst, Th.J.M.; Siesling, Sabine; Riemersma, Sietske; Coebergh, Jan Willem W.

    2010-01-01

    Background: The clinical and prognostic evaluation of cervical and vaginal tumors other than squamous cell and adenocarcinomas is hampered by the low incidence, and clinical and epidemiological studies on these uncommon tumors are scarce. Having close affinity with the pathology laboratories, the

  5. Lymph node tuberculosis after allogeneic haematopoietic stem cell transplantation: an atypical presentation of an uncommon complication.

    Science.gov (United States)

    Martín-Sánchez, Guillermo; Drake-Pérez, Marta; Rodriguez, José Luis; Yañez, Lucrecia; Insunza, Andrés; Richard, Carlos

    2015-01-01

    Mycobacterium tuberculosis infections are uncommon complications in the haematopoietic stem cell post-transplant period. Most cases are reactivations of latent infections affecting the lung. We present an atypical case of isolated lymph node tuberculosis after an allogeneic haematopoietic stem cell transplantation, which highlights the importance of having a high suspicion index, even in non-endemic countries.

  6. Uncommon Implantation Sites of Ectopic Pregnancy: Thinking beyond the Complex Adnexal Mass.

    Science.gov (United States)

    Chukus, Anjeza; Tirada, Nikki; Restrepo, Ricardo; Reddy, Neelima I

    2015-01-01

    Ectopic pregnancy occurs when implantation of the blastocyst takes place in a site other than the endometrium of the uterine cavity. Uncommon implantation sites of ectopic pregnancy include the cervix, interstitial segment of the fallopian tube, scar from a prior cesarean delivery, uterine myometrium, ovary, and peritoneal cavity. Heterotopic and twin ectopic pregnancies are other rare manifestations. Ultrasonography (US) plays a central role in diagnosis of uncommon ectopic pregnancies. US features of an interstitial ectopic pregnancy include an echogenic interstitial line and abnormal bulging of the myometrial contour. A gestational sac that is located below the internal os of the cervix and that contains an embryo with a fetal heartbeat is indicative of a cervical ectopic pregnancy. In a cesarean scar ectopic pregnancy, the gestational sac is implanted in the anterior lower uterine segment at the site of the cesarean scar, with thinning of the myometrium seen anterior to the gestational sac. An intramural gestational sac implants in the uterine myometrium, separate from the uterine cavity and fallopian tubes. In an ovarian ectopic pregnancy, a gestational sac with a thick hyperechoic circumferential rim is located in or on the ovarian parenchyma. An intraperitoneal gestational sac is present in an abdominal ectopic pregnancy. Intra- and extrauterine gestational sacs are seen in a heterotopic pregnancy. Two adnexal heartbeats suggest a live twin ectopic pregnancy. Recognition of the specific US features will help radiologists diagnose these uncommon types of ectopic pregnancy. (©)RSNA, 2015.

  7. Nasal Carriage of Uncommon Coagulase-Negative Staphylococci in Nurses and Physicians of Tehran University Hospitals

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    Elaheh Salimi

    2016-05-01

    Full Text Available Coagulase-negative staphylococci (CoNS have been identified as a major cause of nosocomial infections. Nasal carriage of CoNS in nurses and physicians is known to be an important risk factor for potential hospital infections. This study was carried out to investigate the prevalence of nasal carriage of uncommon coagulase-negative staphylococci among nurse and physician staffs of Tehran University Hospitals. A total of 116 CoNS were isolated from anterior nares of the study participants working in different wards of the hospitals. Thirteen uncommon CoNS were identified using phenotypic and biochemical methods, were subsequently confirmed by API kits. Staphylococcus xylosus, Staphylococcus haemolyticus, and Staphylococcus capitis species accounted for 53.85%, 30.77%, and 15.38% from the isolates, respectively. Six isolates (46.15% were found to be resistant to methicillin. In conclusion, screening of healthcare workers for uncommon CoNS colonization along with identification and testing for susceptibility of cultured isolates is of paramount importance in strengthening effective nosocomial infection control and prevention measures.

  8. Dermopathy of Graves′ disease: Clinico-pathological correlation

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    Sagili Vijaya Bhaskar Reddy

    2012-01-01

    Full Text Available Dermopathy of Graves′ disease is a classical, but uncommon extrathyroidal manifestation of Graves′ disease. The images of a typical case of dermopathy of Graves′ disease are presented along with clinico-pathological correlation.

  9. Alopecia: manifestação cutânea rara de sarcoidose Alopecia: an uncommon cutaneous manifestation of sarcoidosis

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    Fabiane Mulinari Brenner

    2008-10-01

    Full Text Available A sarcoidose é doença granulomatosa multissistêmica que geralmente compromete o trato respiratório e os linfonodos hilares. A pele é comumente afetada, mas raramente o couro cabeludo. Dois casos de sarcoidose com lesões no couro cabeludo são relatados: o primeiro, em paciente negra apresentando áreas de alopecia no couro cabeludo associada a outras lesões cutâneas; e o segundo, em paciente branca, portadora de sarcoidose pulmonar, com alopecia como manifestação cutânea isolada. A sarcoidose de couro cabeludo merece especial atenção, pois nos pacientes com essa forma de lesão cutânea existe alta incidência de acometimento sistêmico.Sarcoidosis is a multi-system granulomatous disease that generally affects the respiratory tract and hilar lymph nodes. The skin is also commonly involved, although cutaneous sarcoidosis on the scalp is rare. Two cases of scalp sarcoidosis are reported: the first presented with patchy alopecia, cutaneous sarcoidosis and also systemic disease in a black patient; the second case is related to an uncommon presentation with alopecia as the single cutaneous manifestation in a Caucasian patient with pulmonary sarcoidosis. Scalp sarcoidosis deserves special attention because there is a high incidence of other systemic lesions with this cutaneous manifestation, thus a careful investigation should be performed in these patients.

  10. Pneumonia by Listeria monocytogenes: A Common Infection by an Uncommon Pathogen

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    Theocharis Koufakis

    2015-01-01

    Full Text Available Infections by Listeria monocytogenes typically occur in infants, the elderly, pregnant women, and immunosuppressed subjects. Pulmonary infections in adults are extremely uncommon and only few reports can be found in the literature. We here report a case of Listeria pneumonia in an 85-year-old female patient and we discuss our diagnostic and therapeutic approach. Despite being rare and in most cases difficult to be identified, Listeria pneumonia should always be considered in immunosuppressed patients, presenting with fever and symptoms from the lower respiratory system.

  11. Pneumonia by Listeria monocytogenes: A Common Infection by an Uncommon Pathogen.

    Science.gov (United States)

    Koufakis, Theocharis; Chatzopoulou, Marianneta; Margaritis, Anastasios; Tsiakalou, Maria; Gabranis, Ioannis

    2015-01-01

    Infections by Listeria monocytogenes typically occur in infants, the elderly, pregnant women, and immunosuppressed subjects. Pulmonary infections in adults are extremely uncommon and only few reports can be found in the literature. We here report a case of Listeria pneumonia in an 85-year-old female patient and we discuss our diagnostic and therapeutic approach. Despite being rare and in most cases difficult to be identified, Listeria pneumonia should always be considered in immunosuppressed patients, presenting with fever and symptoms from the lower respiratory system.

  12. Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).

    Science.gov (United States)

    David, Jasna; Okiro, Julie Omolola; Murphy, Kevin; Elamin, Marwa

    2017-02-27

    A 26-year-old man presented to the emergency department with new-onset generalised tonic-clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. 2017 BMJ Publishing Group Ltd.

  13. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing.

    Science.gov (United States)

    Jian-Bing, Wu; Cheng-Rang, Li; Yi-Ping, Ma; Nan, Sheng; Hui, Li; Lin, Lin

    2016-02-01

    Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity, telangiectatic facial erythema, and growth deficiency. We present a case of Bloom syndrome with uncommon clinical manifestations including alopecia areata, eyebrow hair loss, flat nose, reticular pigmentation, and short sharpened distal phalanges with fingernails that were wider than they were long. We detected the Bloom syndrome gene, BLM, which is one of the members of the RecQ family of DNA helicases, and found changes in 2 heterozygous nucleotide sites in the patient as well as her father and mother.

  14. Subungual glomus tumor: an uncommon cause of median canaliform nail-dystrophy of Heller

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    Mrinal Gupta, Vikas Sharma

    2014-01-01

    Full Text Available Glomus tumor is an uncommon vascular tumor involving mostly subunguum of the thumb or the index finger. It commonly presents as a pink or purplish circumscribed nodule underneath the nail plate. Pain is paroxysmal in nature and precipitated often from exposure to cold or pressure/blunt trauma. Dystrophy of the nail plate occurs rarely. The described case, a 40-year-old woman, had dystrophic thumbnail ascribed to subungual glomus tumor that resembled median canaliform nail-dystrophy of Heller.

  15. Intraoral Neurinoma of the Lingual Nerve: An Uncommon Tumor in Floor of the Mouth

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    Santhosh Kumar kuppusamy

    2014-01-01

    Full Text Available Neurinoma or schwannoma is an uncommon benign tumor that arises primarily from the nerve sheath of Schwann cells. About 25% has been reported in head and neck region extracranially, but only 1% in the intraoral origin. Intraorally, the tongue is the most common site followed by the palate, floor of the mouth, lips and buccal mucosa. In review of literature, intraoral schwannoma of the lingual nerve origin has not been reported frequently. So, we present a case of intraoral neurinoma of the lingual nerve.

  16. An uncommon cause of acquired osteosclerosis in adults: hepatitis C-associated osteosclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Epperla, Narendranath [Marshfield Clinic, Department of Internal Medicine, Marshfield, WI (United States); McKiernan, Fergus E. [Marshfield Clinic, Center for Bone Disease, Marshfield, WI (United States)

    2014-09-15

    Hepatitis C-associated osteosclerosis (HCAO) is a rare sclerosing bone condition characterized by debilitating, predominantly lower extremity bone pain, accelerated bone turnover, and a generalized increase in histologically normal trabecular and cortical bone tissue. Herein we report the clinical presentation and imaging results of the 19th case of HCAO. Clinicians, particularly those caring for a population at risk for HCV infection, should be aware of this uncommon condition. The etio-pathogenesis of HCAO remains obscure but may bear important lessons in bone biology that could lead to new treatment options for osteoporosis. (orig.)

  17. Conus medullaris dermoid tumour. Uncommon presentation of conus medullaris dermoid as an exophytic mass lesion

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    Satyarthee Guru Dutta

    2017-03-01

    Full Text Available Authors report an extremely uncommon case dorsally exophytic conus dermoid in a three-years old boy, who underwent meningocele repair locate at lumbosacral region at an age of one month. The boy presented with low backache and difficulty in passing urine. Magnetic resonance imaging evaluation of spine revealed presence of a large exophytic mass located dorsally in the conus and the features suggestive of dermoid. He underwent surgical intervention during surgery lesion was dorsally exophytic containing cheesy material with hairs, excision of dermoid along capsule was carried our successfully. Pertinent literature and management of exophytic conus dermoid is discussed briefly.

  18. Uncommon evolution of fibrosing alveolitis in a hard metal grinder exposed to cobalt dusts.

    Science.gov (United States)

    Zanelli, R; Barbic, F; Migliori, M; Michetti, G

    1994-06-30

    This study reports a case of fibrosing alveolitis with uncommon evolution in a 27-year-old male non-smoker, working as a hard metal grinder for 10 years. Personal and occupational history, routine clinical and laboratory check-up, chest X-rays, lung function tests, fiberoptic bronchoscopy with bronchoalveolar lavage and open lung biopsy returned a diagnosis of hard metal lung fibrosis. The patient felt greatly improved after removal from the workplace, without any therapy. At present, he is complaining of only mild exertional dyspnea and shows an attenuation of his ventilatory defect. The radiological picture has clearly improved and the cellular pattern of bronchoalveolar lavage was normal.

  19. Common and uncommon vascular rings and slings: a multi-modality review

    Energy Technology Data Exchange (ETDEWEB)

    Dillman, Jonathan R.; Agarwal, Prachi P.; Hernandez, Ramiro J.; Strouse, Peter J. [University of Michigan Health System, C.S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, Ann Arbor, MI (United States); Attili, Anil K. [University of Kentucky College of Medicine, Department of Radiology, Lexington, KY (United States); Dorfman, Adam L. [University of Michigan Health System, C.S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, Ann Arbor, MI (United States); University of Michigan Health System, C.S. Mott Children' s Hospital, Department of Pediatrics and Communicable Diseases, Division of Pediatric Cardiology, Ann Arbor, MI (United States)

    2011-11-15

    Vascular rings and pulmonary slings are congenital anomalies of the aortic arch/great vessels and pulmonary arteries, respectively, that commonly present early during infancy and childhood with respiratory and/or feeding difficulties. The diagnosis of these conditions frequently utilizes a multi-modality radiological approach, commonly utilizing some combination of radiography, esophagography, CT angiography and MR angiography. The purpose of this pictorial review is to illustrate the radiological findings of common and uncommon vascular rings and pulmonary slings in children using a state-of-the-art multi-modality imaging approach. (orig.)

  20. MR imaging of uncommon soft tissue tumors in the foot: a pictorial essay

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    Lee, Youn Joo; Chun, Kyung Ah; Kim, Jee Young; Sung, Mi Sook; Kim, Ki Tae [The Catholic University of Korea, Uijeongbu (Korea, Republic of)

    2007-06-15

    The large variety of masses occur in the foot. The foot is a comparatively rare site of soft tissue neoplasms. MRI has greatly improved the ability to detect and delineate soft tissue lesions and is now considered the gold-standard imaging technique in their investigation. Recently, we have encountered rare soft tissue tumors of the foot. The presented cases include benign masses such as granuloma annulare, angiomyoma, neural fibrolipoma, and giant cell tumor of tendon sheath, as well as malignant tumors such as melanoma, synovial sarcoma, rhabdomyosarcoma and extraskeletal myxoid chondrosarcoma. We wish to illustrate the MR findings of these uncommon soft tissue mors to aid in their diagnosis.

  1. Uncommon presentation of pediatric ruptured intracranial aneurysm after radiotherapy for retinoblastoma. Case report.

    Science.gov (United States)

    Gonzales-Portillo, Gabriel A; Valdivia, Juan Martin Valdivia

    2006-04-01

    Radiation-induced intracranial aneurysms are a rare entity with high mortality. Their pathogenesis is still in debate. Their unique anatomy and behavior should be considered when deciding the proper management. A background of radiation, uncommon anatomic aspects, age of presentation, and location guide us to suspect a radiation-induced etiology. We report the case of a pediatric patient with a ruptured intracranial aneurysm, who previously received radiation therapy to the orbits. We aim to contribute to the literature of this uncommon condition and stress the importance of its prompt diagnosis and treatment. A 12-year-old boy, who received radiation therapy for recurrent bilateral retinoblastomas at age 4 months, suddenly developed severe headache associated with nausea and vomiting. A computed tomography scan revealed subarachnoid hemorrhage. A 4-vessel cerebral angiogram revealed a 2-mm aneurysm in the right A1 segment. The aneurysm was clipped successfully with excellent outcome. After 3 years of follow-up, the patient remains neurologically intact and asymptomatic. A new computed tomography angiogram revealed no new aneurysms. Vascular abnormalities develop after radiation injury to the brain. Aneurysm formation after radiation therapy has been previously reported, probably secondary to endothelial injury. In this case, early presentation, unusual anatomy, location, and small size at rupture, in contrast with saccular aneurysms, suggest a radiation-induced etiology.

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

    Science.gov (United States)

    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

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

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    Evers Lars H

    2010-09-01

    Full Text Available Abstract 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.

  4. Giant cell tumor of tendon sheath in palmar region-cytological aspect of an uncommon tumor

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    Yeddula Chakrapani Spoorthy Rekha

    2017-01-01

    Full Text Available Giant cell tumor of tendon sheath (GCTTS is a benign soft tissue neoplasm. It is the second most common tumor of the hand after ganglion. The pathogenesis of GCTTS is not known. This tumor is known to recur after excision. We present a case of GCTTS in the palmar aspect of the right hand of a 41-year-old female. Ultrasonography of hand revealed a well-defined hypoechoic lesion in the subcutaneous plane with focal areas of calcification. She underwent fine-needle aspiration (FNA. The FNA smears showed the characteristic presence of stromal cells and multinucleated osteoclast-like giant cells. This is an uncommon case of GCTTS present in the palmar aspect of hand diagnosed by FNA.

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

    Science.gov (United States)

    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.

  6. Giant cells glioblastoma: case report and pathological analysis from this uncommon subtype of glioma.

    Science.gov (United States)

    Belsuzarri, Telmo A B; Araujo, João F M; Catanoce, Aguinaldo P; Neves, Maick W F; Sola, Rodrigo A S; Navarro, Juliano N; Brito, Leandro G; Silva, Nilton R; Pontelli, Luis Otavio C; Mattos, Luiz Gustavo A; Gonçales, Tiago F; Zeviani, Wolnei M; Marques, Renata M B

    2015-02-11

    Glioblastoma multiforme (GBM) is the most common glial tumor of the brain system; nevertheless, the giant cell (GC) subtype is uncommon. Recent reviews report for an incidence of 1% in adults and 3% in children. The GCs usually have a better prognosis than GBM and also an increasing long-term survival rate. It is known that the diagnosis of this tumor is due to its histological findings and patterns, such as the unusual increased number of giant cells. Unfortunately, due to its rarity, the immunohistochemical and cytogenetical analysis of this tumor is not well known. Some authors also suggest that there are few subtypes of GCs and their patterns of aggressiveness could be due to cytogenetical markers. It is recognized that maximum safe resection treatment and adjuvant radiotherapy can improve survival rate (5-13 months) similar to GBM patients.

  7. Giant cells glioblastoma: case report and pathological analysis from this uncommon subtype of glioma

    Directory of Open Access Journals (Sweden)

    Telmo A.B. Belsuzarri

    2015-03-01

    Full Text Available Glioblastoma multiforme (GBM is the most common glial tumor of the brain system; nevertheless, the giant cell (GC subtype is uncommon. Recent reviews report for an incidence of 1% in adults and 3% in children. The GCs usually have a better prognosis than GBM and also an increasing long-term survival rate. It is known that the diagnosis of this tumor is due to its histological findings and patterns, such as the unusual increased number of giant cells. Unfortunately, due to its rarity, the immunohistochemical and cytogenetical analysis of this tumor is not well known. Some authors also suggest that there are few subtypes of GCs and their patterns of aggressiveness could be due to cytogenetical markers. It is recognized that maximum safe resection treatment and adjuvant radiotherapy can improve survival rate (5-13 months similar to GBM patients.

  8. Imaging of metastases from breast cancer to uncommon sites: a pictorial review.

    Science.gov (United States)

    Toguchi, Masafumi; Matsuki, Mitsuru; Numoto, Isao; Tsurusaki, Masakatsu; Imaoka, Izumi; Ishii, Kazunari; Yamashita, Rikiya; Inada, Yuki; Monzawa, Shuichi; Kobayashi, Hisato; Murakami, Takamichi

    2016-06-01

    There are three types of breast cancer recurrence which can occur after initial treatment: local, regional, and distant. Distant metastases are more frequent than local and regional recurrences. It usually occurs several years after the primary breast cancer, although it is sometimes diagnosed at the same time as the primary breast cancer. Although the common distant metastases are bone, lung and liver, breast cancer has the potential to metastasize to almost any region of the body. Early detection and treatment of distant metastases improves the prognosis, therefore radiologists and clinicians should recognize the possibility of metastasis from breast cancer and grasp the imaging characteristics. In this report, we demonstrate the imaging characteristics of metastases from breast cancer to uncommon sites.

  9. Uncommon Asymptomatic Unilateral Complete Duplicated Collecting System and Giant Ectopic Ureterocele in Middle-Age Patient

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    Halil Serin

    2014-02-01

    Full Text Available Ureterocele is a common pediatric urologic problem, but has been reported seldom in adults. Most duplex system ureteroceles existent as urinary tract infections at an early age, with adult presentation being uncommon. Urinary stasis in the dilated distal ureter often lends to urinary infection and stone formation; precluding the most common offering symptoms of dysuria, urgency, and recurrent urinary tract infections. Ižn duplex system ureteroceles to poorly or non-functioning moieties, heminephroureterectomy is an definite solution. We present a case of rarely middle-age asymptomatic obstructive giant ureterocele. We intended to emphasize that patient with obstructive, giant, ectopic ureterocele and duplicated collecting system may have asymptomatic course.

  10. Two uncommon cases of uterine leiomyosarcomas displaying heterologous osteosarcomatous de-differentiation

    Directory of Open Access Journals (Sweden)

    Pinki Parikh

    2015-01-01

    Full Text Available Uterine leiomyosarcomas uncommonly arise on a background of leiomyomas. Still rare is osteosarcomatous dedifferentiation in such tumors. A 60-year-old female presented with abdominal pain and underwent radiological imaging that disclosed a large, well-defined, heterogeneously enhancing uterine tumor. She underwent total abdominal hysterectomy with bilateral salpingectomy. Another, 38-year-old female with the complaints of infertility underwent myomectomy for multiple fibroids. Multiple tumor sections from both the cases showed leiomyomas along with leiomyosarcomas and osteosarcomatous dedifferentiation. Immunohistochemically, both the tumors displayed diffuse expression of smooth muscle markers in areas of leiomyomas, reduced expression of the same in areas of leiomyosarcoma and absent expression in areas of osteosarcomatous dedifferentiation. Unfortunately, both the cases were lost to follow-up. Present cases constitute as rare documentations of uterine leiomyosarcomas, arising on a background of leiomyomas and exhibiting osteosarcomatous dedifferentiation. The value of identifying these tumor components, with extensive tumor sampling relates to their relatively aggressive clinical course.

  11. Uncommon Trimethoxylated Flavonol Obtained from Rubus rosaefolius Leaves and Its Antiproliferative Activity

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    Marcel Petreanu

    2015-01-01

    Full Text Available This study shows the evaluation the antiproliferative effect of the extract, fractions, and uncommon compounds isolated from R. rosaefolius leaves. The compounds were identified by conventional spectroscopic methods such as NMR-H1 and C13 and identified as 5,7-dihydroxy-6,8,4′-trimethoxyflavonol (1, 5-hydroxy-3,6,7,8,4′-pentamethoxyflavone (2, and tormentic acid (3. Both hexane and dichloromethane fractions showed selectivity for multidrug-resistant ovary cancer cell line (NCI-ADR/RES with total growth inhibition values of 11.1 and 12.6 μg/ml, respectively. Compound 1 also showed selective activity against the same cell line (18.8 μg/ml; however, it was especially effective against glioma cells (2.8 μg/ml, suggesting that this compound may be involved with the in vitro antiproliferative action.

  12. Structure of capsule around acanthocephalan Corynosoma strumosum from uncommon paratenic hosts-lizards of two species.

    Science.gov (United States)

    Skorobrechova, Ekaterina M; Nikishin, Vladimir P; Lisitsyna, Olga I

    2012-01-01

    Micromorphology and ultrastructure of capsule forming around acanthocephalan Corynosoma strumosum in uncommon paratenic hosts-lizards Lacerta agilis and Lacerta viridis-have been studied. Experimental infestation of the lizards by acanthocephalans obtained from naturally infested sea fishes showed that only small amount of parasites occurred in the intestine of the host was able to migrate into body cavity and to be encapsulated. Micromorphology of capsules of different ages from different species of lizards and micromorphology and ultrastructure of capsules at the age of 1.5 and 10 days appeared to be similar. In the capsule's structure cells of inflammatory rank were prevailing: mononuclear and multinuclear macrophages, eosinophils, and basophils. Fibroblasts were not numerous and were located only in the outer part of a capsule; exocellular collagen fibers were absent. Inflammatory character of capsule confirms the idea that lizards are unsuitable paratenic hosts for corynosomes.

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

    Science.gov (United States)

    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. Aortitis due to giant cell arteritis and psoriatic arthritis: An uncommon association.

    Science.gov (United States)

    García-Cezón de la Cruz, M Del Pilar; Almodóvar, Raquel; García Pérez, Javier; Dhimes, Patricia Fanny; Zarco, Pedro

    We report the case of a 65-year-old woman with psoriatic arthritis who developed aortitis secondary to giant cell arteritis. She presented with a 2-mounth history of dry cough, fever and fatigue. There was no evidence of tumor or infectious processes. Abdominal computed tomographic and computed tomography coronary angiographic findings were suggestive of aortitis. Histological study of a temporal artery biopsy confirmed temporal arteritis. We also review the available literature on this uncommon condition. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  15. Chest Pain and Sudden-Onset Paraplegia at the Emergency Department: An Uncommon Presentation.

    Science.gov (United States)

    Chiu, Feng Han; Tsai, Shih Hung; Ho, Cheng Hsuan

    2017-06-29

    BACKGROUND Coarctation of the aorta is characterized by narrowing of the descending aorta. The narrowing typically is at the isthmus, the segment just distal to the left subclavian artery. Adults with undiagnosed aortic coarctation are asymptomatic or may present with nonspecific hypertension. We present a case that highlights the uncommon complication of aortic coarctation with spinal compression syndrome. CASE REPORT A 45-year-old male presented to the emergency department (ED) with acute-onset chest pain; he experienced urinary incontinence and bilateral lower limb weakness during his ED visit. Chest CT showed coarctation of the aorta and MRI of the spine showed an epidural nodular lesion. He received emergency aortic stent placement surgery, followed by successful hematoma removal and was discharged with residual lower-extremity paraplegia. CONCLUSIONS Chest pain with lower limb paraplegia presentation should consider aortic coarctation complicated with spinal hemorrhage as a possible cause.

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

    Directory of Open Access Journals (Sweden)

    Marcelo Passos Teivelis

    2014-09-01

    Full Text Available 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.

  17. Uncommon presentations of intraosseous haemophilic pseudotumor in imaging diagnosis; Apresentacoes incomuns no diagnostico por imagem do pseudotumor intraosseo do hemofilico

    Energy Technology Data Exchange (ETDEWEB)

    Santos, Marcel Koenigkam; Polezi, Mariana Basso; Pastorello, Monica Tempest; Simao, Marcelo Novelino [Universidade de Sao Paulo (USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Hospital das Clinicas; Engel, Edgard Eduard [Universidade de Sao Paulo (USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Dept. de Biomecanica, Medicina e Reabilitacao do Aparelho Locomotor; Elias Junior, Jorge; Nogueira-Barbosa, Marcello Henrique [Universidade de Sao Paulo (USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Div. de Radiologia], e-mail: marcellonog@yahoo.com

    2009-05-15

    Objective: The present study was aimed at describing uncommon presentations of intraosseous hemophilic pseudotumor in imaging diagnosis. Materials and methods: Retrospective study evaluating five hemophilic pseudotumors in bones of two patients with hemophilia A. Imaging findings were consensually evaluated by two musculoskeletal radiologists. Plain radiography, computed tomography and magnetic resonance imaging studies were analyzed. Results: At contrast-enhanced computed tomography images, one of the lesions on the left thigh was visualized with heterogeneously enhanced solid areas. This finding was later confirmed by anatomopathological study. Another uncommon finding was the identification of a healthy bone portion interposed between two intraosseous pseudotumors in the humerus. And, finally, a femoral pseudotumor with extension towards soft tissues and transarticular extension, and consequential tibial and patellar involvement. Conclusion: The above described imaging findings are not frequently reported in cases of intraosseous pseudotumors in hemophilic patients. It is important that radiologists be aware of these more uncommon presentations of intraosseous pseudotumors. (author)

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

    Science.gov (United States)

    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.

  19. Suprasellar Mature Cystic Teratoma: An Unusual Location for an Uncommon Tumor

    Directory of Open Access Journals (Sweden)

    Raed B. Sweiss

    2013-01-01

    Full Text Available Intracranial germ cell tumors are uncommon and account for only 0.3–3.4% of all intracranial tumors. Teratomas are a subset of these neoplasms, and their finding in brain structures is exceptionally rare, and occurrence within the skull base is quite novel. The authors report the case of a 57-year-old male patient who presented with vision changes, incontinence, ataxia, and altered mental status of 1 week’s duration. Imaging revealed a large intrasellar mass with suprasellar extension, involvement of the ventricular system, and marked hydrocephalus with the enlargement of the lateral and third ventricles. The patient underwent a pterional craniotomy/transsylvian approach for resection of the mass. Postoperative histological examination of the resected mass was confirmatory for a mature cystic teratoma. This was followed by radiotherapy, stereotactic radiosurgery, and adjuvant radiotherapy. At the most recent followup, approximately 4 years later, the patient is doing well with improved vision since the operation. This report highlights our experience with a teratoma in a very unusual location, and we review the relevant literature.

  20. Radioactive iodine-refractory differentiated thyroid cancer: an uncommon but challenging situation

    Energy Technology Data Exchange (ETDEWEB)

    Schmidt, Angelica; Iglesias, Laura; Schlumberger, Martin J. [Institut Gustave Roussy, Univ. Paris-Saclay, Villejuif (France); Klain, Michele [Univ. Federico II di Napoli (Italy); Pitoia, Fabian [Division of Endocrinology, Hospital de Clinicas, Univ. of Buenos Aires (Argentina)

    2017-01-15

    Radioiodine (RAI)-refractory thyroid cancer is an uncommon entity, occurring with an estimated incidence of 4-5 cases/year/million people. RAI refractoriness is more frequent in older patients, in those with large metastases, in poorly differentiated thyroid cancer, and in those tumors with high 18-fluorodeoxyglucose uptake on PET/CT. These patients have a 10-year survival rate of less than 10%. In recent years, new therapeutic agents with molecular targets have become available, with multi kinase inhibitors (MKIs) being the most investigated drugs. Two of these compounds, sorafenib and lenvatinib, have shown significant objective response rates and have significantly improved the progression-free survival in the two largest published prospective trials on MKI use. However, no overall survival benefit has been achieved yet. This is probably related to the crossover that occurs in most patients who progress on placebo treatment to the open treatment of these studies. In consequence, the challenge is to correctly identify which patients will benefit from these treatments. It is also crucial to understand the appropriate timing to initiate MKI treatment and when to stop it. The purpose of this article is to define RAI refractoriness, to summarize which therapies are available for this condition, and to review how to select patients who are suitable for them. (author)

  1. An Unusual Case of Live Caesarean Scar Ectopic Pregnancy: A Common Entity in an Uncommon Location.

    Science.gov (United States)

    Joshi, Sayali D; Momin, Shenaz A; Shetty, Dev

    2017-01-01

    Scar pregnancy is an extremely rare type of ectopic pregnancy, where there is implantation of the gestational sac onto the anterior wall of the uterus at the site of previous LSCS scar in a multipara female. Due to a poor vascular supply to the lower uterine segment, caesarean scars may heal improperly predisposing it to be a site of improper implantation of the gestational sac. The characteristic features are empty uterus and cervix, gestational sac in the anterior part of lower uterine segment with a history of painless vaginal bleeding. It carries a high risk of morbidity related to uterine rupture and extensive haemorrhage. In case of a previous LSCS delivery in a female with a viable gestational sac in the lower uterine segment and elevated B-Hcg levels, the possibility of scar ectopic pregnancy should be considered. KCl or methotrexate can be injected directly into the foetal pole under transvaginal ultrasound guidance in order to stop the cardiac activity in the foetus. The knowledge of the specific ultrasound features of uncommon locations of ectopic pregnancies such as an ectopic scar is crucial for a correct diagnosis and early management in order to prevent complications.

  2. Common and uncommon adverse cutaneous reactions to erlotinib: a study of 20 Chinese patients with cancer.

    Science.gov (United States)

    Zhu, Huiling; Zhu, Zhe; Huang, Weining; Cheng, Xiping; He, Jiaxi; Xiong, Chunping; Han, Jiande

    2018-03-01

    This study presented common lesions with systemic toxicities and uncommon adverse cutaneous reactions such as anaphylactic dermatitis in patients undergoing treatment with erlotinib for the benefit of practicing dermatologists and oncologists. Adverse cutaneous reactions associated with erlotinib were reported in 20 Chinese patients with cancer. Adverse cutaneous reactions reported included six cases of anaphylactic dermatitis, 12 cases of acneiform rash, nine cases of xerosis, five cases of nail changes and four cases of hair changes. One case of anaphylactic dermatitis manifested as erythema with swelling on the face and neck, and others as erosive and scaly erythema on the fold of skin, or red macules, papules, plaques and pigmentation on the whole body. Clinical details indicated anaphylactic reactions, including a high percentage of eosinophils in the peripheral blood, eosinophilic infiltration in the dermis layer and good response to antihistamines and topical steroids. Systemic toxicities accompanied by cutaneous reactions occurred in five patients including one case of anaphylactic dermatitis and four cases of acneiform rash. Elevated hepatic enzymes were observed among all the patients with grade-3 or grade-4 acneiform rashes. One patient with anaphylactic dermatitis and one with acneiform rash discontinued erlotinib administration due to severe lesions, high fever or severe elevation of hepatic enzymes. Anaphylactic cutaneous reactions caused by erlotinib are rarely described hitherto. Systemic toxicities should be emphasized especially in cases with severe skin disorders. Timely detection and appropriate early intervention in patients who develop severe cutaneous reaction while on erlotinib therapy should be considered clinically.

  3. Hypogonadotropic hypogonadism in human immunodeficiency virus-infected men: uncommonly low testosterone levels

    Directory of Open Access Journals (Sweden)

    Ana Coelho Gomes

    2017-09-01

    Full Text Available Hypogonadotropic hypogonadism (HH is common and occurs prematurely in HIV-infected men. However, HH with very low testosterone has not been described. Three men with normal pubertal development and HIV1 diagnosis at the ages of 22, 34 and 35 years. All complained of decreased libido, anejaculation and erectile dysfunction thirteen years, six months and one year after HIV diagnosis, respectively. Two had depressive syndrome and two were treated with antiretroviral therapy. Laboratory tests revealed isolated HH in all. Sellar and head CT scans were normal and all had normal CD4 count. They started testosterone replacement therapy, with symptoms improvement. Causes of HH in HIV-infected men include undernutrition, severe illness, drugs, pituitary dysfunction and comorbidities. Despite having none of these conditions (except two that were treated with low-dose psychotropics, our patients had HH with uncommonly low testosterone. This suggests that a different mechanism contributes to severe HH in HIV-infected men.

  4. Uncommon cause for anterior knee pain - Aggressive aneurysmal bone cyst of the patella

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    Balke Maurice

    2010-04-01

    Full Text Available Abstract A 56-year-old man presented with a two month history of increasing anterior knee pain without previous trauma. As usual we recommended physiotherapy with stretching exercises of the quadriceps muscle. Since symptoms did not improve after 6 weeks MRI was performed. Surprisingly a hyperintense lobulated mass of the patella with small fluid-filled cavities at the inferior pole was revealed. We performed an open biopsy to exclude any malignancy and diagnosed an aneurysmal bone cyst. Further examination with CT scans showed an aggressive behaviour with cortical breakthrough. We performed an intralesional curettage with additional high-speed burring and bone cement packing. Sixteen months later the patient was free from any complaints and without signs of local recurrence. Primary bone tumors of the patella are extremely rare and occurrence of aneurysmal bone cysts in this localization is very uncommon. This case report indicates that although anterior knee pain is a very frequent and usually harmless symptom, it is essential to consider that it might also be caused by more severe disorders such as bone tumors.

  5. Uncommon Presentation of Idiopathic Intracranial Hypertension in a Patient with Polycystic Ovary Syndrome: A Case Report.

    Science.gov (United States)

    Albarrak, Anas Mohammad; Kojan, Suleiman

    2017-01-01

    Idiopathic intracranial hypertension is a rare condition characterized by increased intracranial pressure without clinical, laboratory, or radiological evidence of intracranial pathology. Early management could prevent irreversible outcomes. A 17-year-old single Arabian female of Arab origin presented with a 2-day complaint of horizontal diplopia and transient visual obscurations. She denied any history of headache or decreased vision. The patient was diagnosed with polycystic ovary syndrome a year prior to presentation. Examination revealed bilateral moderate papilledema and limited left eye abduction. However, visual acuity and fields were normal. Increased intracranial pressure was confirmed by lumbar puncture opening pressure (550 mm H2O). The cerebrospinal fluid composition and imaging of brain and cerebral venous system were normal. The diagnosis of idiopathic intracranial hypertension was confirmed and the patient was treated with acetazolamide 500 mg twice per day. The symptoms totally resolved within 3 days and the papilledema disappeared after 2 months. Awareness of such uncommon presentation of idiopathic intracranial hypertension emphasizes the critical importance of detailed ophthalmic examination and shows the good prognosis of early management.

  6. Uncommon Presentation of Idiopathic Intracranial Hypertension in a Patient with Polycystic Ovary Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Anas Mohammad Albarrak

    2017-03-01

    Full Text Available Introduction: Idiopathic intracranial hypertension is a rare condition characterized by increased intracranial pressure without clinical, laboratory, or radiological evidence of intracranial pathology. Early management could prevent irreversible outcomes. Case Presentation: A 17-year-old single Arabian female of Arab origin presented with a 2-day complaint of horizontal diplopia and transient visual obscurations. She denied any history of headache or decreased vision. The patient was diagnosed with polycystic ovary syndrome a year prior to presentation. Examination revealed bilateral moderate papilledema and limited left eye abduction. However, visual acuity and fields were normal. Increased intracranial pressure was confirmed by lumbar puncture opening pressure (550 mm H2O. The cerebrospinal fluid composition and imaging of brain and cerebral venous system were normal. The diagnosis of idiopathic intracranial hypertension was confirmed and the patient was treated with acetazolamide 500 mg twice per day. The symptoms totally resolved within 3 days and the papilledema disappeared after 2 months. Conclusion: Awareness of such uncommon presentation of idiopathic intracranial hypertension emphasizes the critical importance of detailed ophthalmic examination and shows the good prognosis of early management.

  7. Phenolic profiling of Portuguese propolis by LC-MS spectrometry: uncommon propolis rich in flavonoid glycosides.

    Science.gov (United States)

    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.

  8. Uncommon synchronous histopathological features of a radicular cyst: a case report

    Science.gov (United States)

    2009-01-01

    Radicular cysts are the most common inflammatory odontogenic cystic lesions. It originates from epithelial residues in periodontal ligaments secondary to inflammation. The pathogenesis involves the activation of epithelial cell rests of Malaseez after physical, chemical or bacterial injury. Microscopically, the cyst is thin with smooth or corrugated inner surface. The most common epithelial lining is stratified squamous; with Rushton's hyaline bodies in 10% of the reported cases. Slow accumulation and deposition of cholesterol during the inflammatory process leads to the formation of "clefts" with acute and chronic inflammatory cells in the proliferating epithelium and connective tissue, respectively. The presence of hemosiderin usually indicates a previous micro-hemorrhage event. While the presence of lipid-laden macrophages or foam cells indicate the presence of cholesterol-removing mechanism from the lesion. We report a rare case of 38-year-old Mediterranean female presented with throbbing right maxillary pain. The diagnosis of radicular cyst was confirmed by the presence of atrophic non-keratinized stratified squamous epithelium. The radicular cyst was associated with hemosiderin, foam cells, subepithelial fibrosis and root canal dystrophic calcification. They represent uncommon synchronous histopathological features. PMID:20184707

  9. Uncommon Pyrazoyl-Carboxyl Bifunctional Ligand-Based Microporous Lanthanide Systems: Sorption and Luminescent Sensing Properties.

    Science.gov (United States)

    Li, Gao-Peng; Liu, Ge; Li, Yong-Zhi; Hou, Lei; Wang, Yao-Yu; Zhu, Zhonghua

    2016-04-18

    Seven new isostructural lanthanide metal-organic frameworks (Ln-MOFs), [Ln(Hpzbc)2(NO3)]·H2O (1-Ln, Ln = Nd(3+), Sm(3+), Eu(3+), Gd(3+), Tb(3+), Er(3+), and Yb(3+) ions, H2pzbc = 3-(1H-pyrazol-3-yl) benzoic acid), with one-dimensional (1D) channels decorated by nitrate anions and pyrazoyl groups have been constructed. 1-Ln, as revealed by structural analysis, represent uncommon microporous 3D Ln-pyrazoyl-carboxyl systems using pyrazoyl-carboxyl bifunctional ligands as bridges. The luminescent investigations show that 1-Eu is an excellent MOF-based fluorescent probe, with high sensitivity, selectivity, and simple regeneration, for environmentally relevant Fe(3+) and Cr2O7(2-) ions. 1-Eu also presents highly selective capture for CO2 over N2 and CH4 due to the multiple binding sites for CO2 molecules, which were supported by Grand Canonical Monte Carlo (GCMC) simulations.

  10. Extramedullary plasmacytoma of the pancreas as an uncommon cause of obstructive jaundice: a case report

    Directory of Open Access Journals (Sweden)

    Leake Pierre-Anthony

    2009-08-01

    Full Text Available Abstract Introduction Though uncommon, extramedullary plasmacytoma of the pancreas should be considered in the differential diagnosis of obstructive jaundice and pancreatic neoplasms. This report highlights a case of obstructive jaundice in a 46-year-old West Indian man that resulted from an extramedullary plasmacytoma. Case presentation A 46-year-old West Indian man presented to our hospital with evidence of a significant upper gastrointestinal bleed. He gave a recent history of jaundice, constitutional symptoms and back pain. Ultrasonography revealed a mass in the head of the pancreas with resultant common bile duct dilatation. The patient required urgent surgical intervention for ongoing bleeding at which time a biopsy of the pancreas was taken. Histological analysis revealed a plasmacytoma of the pancreas. A blood film showing rouleaux formation and a skeletal survey demonstrating multiple lytic lesions confirmed multiple myeloma. Before further evaluation or treatment was carried out, the patient defaulted from follow-up and died from his illness seven months later. Conclusion This case represents an example of multiple myeloma with visceral involvement, brought to clinical attention through involvement of the pancreas. The report serves to reaffirm knowledge of the various presentations, the optimal diagnostic tools and the current proposed treatment strategies for extramedullary plasmacytomas of the pancreas.

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

    Science.gov (United States)

    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.

  12. Uncommon synchronous histopathological features of a radicular cyst: a case report.

    Science.gov (United States)

    Kafas, Panagiotis; Dalfas, Sotirios; Upile, Tahwinder; Jerjes, Waseem

    2009-08-25

    Radicular cysts are the most common inflammatory odontogenic cystic lesions. It originates from epithelial residues in periodontal ligaments secondary to inflammation. The pathogenesis involves the activation of epithelial cell rests of Malaseez after physical, chemical or bacterial injury. Microscopically, the cyst is thin with smooth or corrugated inner surface. The most common epithelial lining is stratified squamous; with Rushton's hyaline bodies in 10% of the reported cases. Slow accumulation and deposition of cholesterol during the inflammatory process leads to the formation of "clefts" with acute and chronic inflammatory cells in the proliferating epithelium and connective tissue, respectively. The presence of hemosiderin usually indicates a previous micro-hemorrhage event. While the presence of lipid-laden macrophages or foam cells indicate the presence of cholesterol-removing mechanism from the lesion. We report a rare case of 38-year-old Mediterranean female presented with throbbing right maxillary pain. The diagnosis of radicular cyst was confirmed by the presence of atrophic non-keratinized stratified squamous epithelium. The radicular cyst was associated with hemosiderin, foam cells, subepithelial fibrosis and root canal dystrophic calcification. They represent uncommon synchronous histopathological features.

  13. Immunofluorescence of Autoimmune Bullous Diseases

    NARCIS (Netherlands)

    Diercks, Gilles F; Pas, Hendri H; Jonkman, Marcel F

    Autoimmmune bullous diseases of skin and mucosa are uncommon, disabling, and potentially lethal diseases. For a quick and reliable diagnosis immunofluorescence is essential. This article describes two variants of immunofluorescence. The direct method uses a skin or mucosal biopsy of the patient to

  14. Doença celíaca e constipação: uma manifestação clínica atípica e pouco frequente Enfermedad celíaca y constipación: una manifestación clínica atípica y poco frecuente Celiac disease and constipation: an uncommon atypical clinical manifestation

    Directory of Open Access Journals (Sweden)

    Cristiane Boé

    2012-06-01

    Full Text Available OBJETIVO: Relatar dois casos de doença celíaca (DC com manifestação de constipação. DESCRIÇÃO DO CASO: Dois pacientes do sexo feminino, com 18 e 30 meses de idade, respectivamente, apresentando história de constipação crônica refratária ao tratamento. Como apresentavam concomitantemente baixo ganho ponderal e estatural, foi realizada investigação da função digestiva-absortiva, que resultou positiva para o anticorpo IgA antitransglutaminase tecidual. O diagnóstico de DC foi confirmado por biópsia de intestino delgado que revelou atrofia vilositária moderada/intensa e infiltrado linfocítico intraepitelial. Um mês após o início do tratamento com dieta isenta de glúten, ambas as pacientes passaram a apresentar fezes pastosas diariamente. COMENTÁRIOS: A DC pode se apresentar nas formas clássica, assintomática e atípica, em que manifestações isoladas como constipação podem retardar o diagnóstico.OBJETIVO: Relatar dos casos de enfermedad celíaca (EC con manifestación de constipación. DESCRIPCIÓN DEL CASO: Dos pacientes del sexo femenino, con 18 y 30 meses de edad, respectivamente, presentando historia de constipación crónica refractaria al tratamiento. Como presentaban concomitantemente baja ganancia de peso ponderal y estatural, se realizó investigación de la función digestiva-absortiva, que resultó positiva para el anticuerpo IgA antitransglutaminasa tejidual. El diagnóstico de EC fue confirmado por biopsia de intestino delgado que reveló atrofia vellositaria moderada/intensa e infiltrado linfocítico intraepitelial. Un mes después del inicio del tratamiento con dieta exenta de gluten, ambas pacientes pasaron a presentar heces pastosas diariamente. COMENTARIOS: La EC puede presentarse en la forma clásica, asintomática y atípica, en que manifestaciones aisladas como constipación pueden retardar el diagnóstico.OBJECTIVE: To report two cases of patients with celiac disease (CD whose main complaint was

  15. Ischemic diffusion lesion reversal is uncommon and rarely alters perfusion-diffusion mismatch.

    Science.gov (United States)

    Chemmanam, T; Campbell, B C V; Christensen, S; Nagakane, Y; Desmond, P M; Bladin, C F; Parsons, M W; Levi, C R; Barber, P A; Donnan, G A; Davis, S M

    2010-09-21

    The use of diffusion-weighted imaging (DWI) to define irreversibly damaged infarct core is challenged by data suggesting potential partial reversal of DWI abnormalities. However, previous studies have not considered infarct involution. We investigated the prevalence of DWI lesion reversal in the EPITHET Trial. EPITHET randomized patients 3-6 hours from onset of acute ischemic stroke to tissue plasminogen activator (tPA) or placebo. Pretreatment DWI and day 90 T2-weighted images were coregistered. Apparent reversal of the acute ischemic lesion was defined as DWI lesion not incorporated into the final infarct. Voxels of CSF at follow-up were subtracted from regions of apparent DWI lesion reversal to adjust for infarct atrophy. All cases were visually cross-checked to exclude volume loss and coregistration inaccuracies. In 60 patients, apparent reversal involved a median 46% of the baseline DWI lesion (median volume 4.9 mL, interquartile range 2.6-9.5 mL) and was associated with less severe baseline hypoperfusion (p < 0.001). Apparent reversal was increased by reperfusion, regardless of the severity of baseline hypoperfusion (p = 0.02). However, the median volume of apparent reversal was reduced by 45% when CSF voxels were subtracted (2.7 mL, interquartile range 1.6-6.2 mL, p < 0.001). Perfusion-diffusion mismatch classification only rarely altered after adjusting the baseline DWI volume for apparent reversal. Visual comparison of acute DWI to subacute DWI or day 90 T2 identified minor regions of true DWI lesion reversal in only 6 of 93 patients. True DWI lesion reversal is uncommon in ischemic stroke patients. The volume of apparent lesion reversal is small and would rarely affect treatment decisions based on perfusion-diffusion mismatch.

  16. Serious adverse events are uncommon with combination neonatal antiretroviral prophylaxis: a retrospective case review.

    Directory of Open Access Journals (Sweden)

    Christiana Smith

    Full Text Available Six weeks of zidovudine (ZDV is recommended for postnatal prophylaxis of HIV-exposed infants, but combination antiretrovirals are indicated if HIV transmission risk is increased. We investigated the frequency and severity of adverse events (AE in infants receiving multiple drug prophylaxis compared to ZDV alone. In this retrospective review of 148 HIV-exposed uninfected infants born between 1997-2009, we determined clinical and laboratory AE that occurred between days of life 8-42. Thirty-six infants received combination prophylaxis; among those, a three-drug regimen containing ZDV, lamivudine, and nevirapine was most common (53%. Rates of laboratory AE grade ≥1 were as follows for the combination prophylaxis and ZDV alone groups, respectively: neutropenia 55% and 39%; anemia 50% and 39%; thrombocytopenia 0 and 3%; elevated aspartate aminotransferase 3% and 3%; elevated alanine aminotransferase 0 and 1%; hyperbilirubinemia 19% and 42%. Anemia occurred more frequently in infants who received three-drug prophylaxis compared to infants who received ZDV alone (63% vs. 39%, p = 0.04; all anemia AE were grade 1 or 2 in the three-drug prophylaxis group. Overall, 75% of infants on combination prophylaxis and 66% of infants on ZDV alone developed grade ≥1 AE (p = 0.32, and 17% of infants in either group developed grade ≥3 AE. Stavudine was substituted for ZDV in 23 infants due to anemia or neutropenia. After this antiretroviral change, 50% of evaluable infants demonstrated improvement in AE grade, and 25% had no change. In conclusion, low grade anemia, neutropenia, and hyperbilirubinemia occurred frequently regardless of the prophylactic regimen, but serious AE were uncommon. Although most AE were typical of ZDV toxicity, the combination of ZDV with lamivudine and nevirapine resulted in an increased frequency of low-grade anemia. Further studies are needed to identify prophylactic regimens with less toxicity for infants born to HIV-infected mothers.

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

    Science.gov (United States)

    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 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.

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

    Science.gov (United States)

    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.

  19. A comprehensive safety analysis confirms rhabdomyolysis as an uncommon adverse reaction in patients treated with trabectedin.

    Science.gov (United States)

    Grosso, Federica; D'Incalci, Maurizio; Cartoafa, Mirela; Nieto, Antonio; Fernández-Teruel, Carlos; Alfaro, Vicente; Lardelli, Pilar; Roy, Elena; Gómez, Javier; Kahatt, Carmen; Soto-Matos, Arturo; Judson, Ian

    2012-06-01

    This analysis determined the incidence of serious rhabdomyolysis events reported during trabectedin treatment since the first phase I clinical trial in April 1996 up to September 2010. Search was done in the Yondelis(®) Pharmacovigilance and Clinical Trials databases using a list of terms according to the Medical Dictionary for Regulatory Activities (MedDRA, v. 13.1), followed by a medical review of all cases retrieved. Total estimated sample was 10,841 patients: 2,789 from clinical trials; 3,926 from compassionate use programs; and 4,126 treated in the marketplace. Two groups were identified: (1) rhabdomyolysis and (2) clinically relevant creatine phosphokinase (CPK) increases without acute renal failure (ARF). Descriptive analysis included demographic, clinical/laboratory data, and contributing/confounding factors. Potential predictive factors were evaluated by multivariate stepwise logistic regression analysis. Possible changes of pharmacokinetics (PK) in patients with rhabdomyolysis were explored using a population PK model. The global incidence of rhabdomyolysis was 0.7%, and most cases occurred in Cycle 2 of treatment. The incidence of fatal cases was 0.3%. None of the variables evaluated to detect potential risk factors of rhabdomyolysis were predictive. Additionally, CPK increases (without ARF) were detected in 0.4% of patients as an incidental finding with good prognosis. Rhabdomyolysis is an uncommon event during trabectedin treatment. Multivariate analyses did not show any potential factor that could be predictive or represent a significantly higher risk of developing rhabdomyolysis. Nevertheless, close patient monitoring and adherence to drug administration guidelines may help to limit the incidence of this event.

  20. Atypical disease phenotypes in pediatric ulcerative colitis

    DEFF Research Database (Denmark)

    Levine, Arie; de Bie, Charlotte I; Turner, Dan

    2013-01-01

    Definitive diagnosis of pediatric ulcerative colitis (UC) may be particularly challenging since isolated colitis with overlapping features is common in pediatric Crohn's disease (CD), while atypical phenotypes of UC are not uncommon. The Paris classification allows more accurate phenotyping of at...... of atypical inflammatory bowel disease (IBD) patients. Our aim was to identify the prevalence of atypical disease patterns in new-onset pediatric UC using the Paris classification.......Definitive diagnosis of pediatric ulcerative colitis (UC) may be particularly challenging since isolated colitis with overlapping features is common in pediatric Crohn's disease (CD), while atypical phenotypes of UC are not uncommon. The Paris classification allows more accurate phenotyping...

  1. AUTOIMMUNE EPIDERMAL BLISTERING DISEASES

    OpenAIRE

    Ana Maria Abreu Velez; Juliana Calle; Howard, Michael S.

    2013-01-01

    Autoimmune bullous skin diseases (ABDs) are uncommon, potentially fatal diseases of skin and mucous membranes which are associated with deposits of autoantibodies and complement against distinct molecules of the epidermis and dermal/epidermal basement membrane zone (BMZ). These autoantibodies lead to a loss in skin molecular integrity, which manifests clinically as formation of blisters or erosions. In pemphigus vulgaris, loss of adhesion occurs within the epidermis. The pioneering work of Er...

  2. Heck′s Disease

    OpenAIRE

    Kartikeya Patil; V G Mahima; Usha Heg; Shivanand B Bagewadi

    2003-01-01

    Heck′s Disease also termed as Focal Epithelial Hyperplasia is an uncommon benign oral condition characterized by multiple circumscribed, sessile, soft, elevated nodules having the same colour as the oral mucosa. It occurs commonly in younger individuals of certain racial groups. A case of Heck′s Disease manifesting in a 5 year old male Tibetan refugee child in India is presented and discussed.

  3. The archaeology of uncommon interventions: Articulating the rationale for transcatheter closure of congenital coronary artery fistulas in asymptomatic children.

    Science.gov (United States)

    McElhinney, Doff B

    2016-02-15

    Transcatheter closure of coronary artery fistulas can be executed successfully in infants and children with few serious procedural complications. Indications for and long-term outcomes of closure of coronary artery fistulas remain poorly defined. Registries may offer the best opportunity for advancing our knowledge about uncommon interventions such as coil or device closure of coronary artery fistulas, but to do so, they must include sufficient data and evaluate factors potentially associated with salutary or adverse outcome. © 2016 Wiley Periodicals, Inc.

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

    Science.gov (United States)

    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.

  5. Uncommon primary tumors of the orbit diagnosed by computed tomography-guided core needle biopsy: report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Tyng, Chiang Jeng; Matushita Junior, Joao Paulo Kawaoka; Bitencourt, Almir Galvao Vieira; Amoedo, Mauricio Kauark; Barbosa, Paula Nicole Vieira; Chojniak, Rubens, E-mail: almirgvb@yahoo.com.br [A.C.Camargo Cancer Center, Sao Paulo, SP (Brazil). Dept. de Imagem; Neves, Flavia Branco Cerqueira Serra [Hospital do Servidor Publico Estadual, Sao Paulo, SP (Brazil). Div. de Oftalmologia

    2014-11-15

    Computed tomography-guided percutaneous biopsy is a safe and effective alternative method for evaluating selected intra-orbital lesions where the preoperative diagnosis is important for the therapeutic planning. The authors describe two cases of patients with uncommon primary orbital tumors whose diagnosis was obtained by means of computed tomography-guided core needle biopsy, with emphasis on the technical aspects of the procedure. (author)

  6. Hypertensive Crisis in A Young Woman: A Rare Presentation of an Uncommon Disease (Poster), New Nerve racking Neurologic Symptoms (Podium)

    Science.gov (United States)

    2017-04-26

    r ~------·-CM..OOttlfDOl:f 0 I t~ ::.:.:~.:::=- - 2rld EffDOR&EMENT (·602 laGIJAC Un 0Blyl 33. O....TE REC EIVED 34. DAT E FOR’llA,:: WED TO 59 MOW...is a large vessel vascu litis affecting young fe males classical ly presenting with claudication, systemic illness and asymmetric blood pressures. We...with a headache, grand mal se izure and altered mental status prompting ICU ad mission. Admiss ion blood pressure was 2 18/130 and equa l in all

  7. Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

    Science.gov (United States)

    Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome.

  8. Unusual Presentation of Uncommon Disease: Anorexia Nervosa Presenting as Wernicke-Korsakoff Syndrome—A Case Report from Southeast Asia

    Science.gov (United States)

    Mushtaq, Raheel; Shah, Tabindah; Bhat, Mudasir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome. PMID:24963430

  9. Pioderma granulomatoso superficial: relato de caso de variante rara do pioderma gangrenoso Superficial granulomatous pyoderma: report of a case of an uncommon variant of pyoderma gangrenosum

    Directory of Open Access Journals (Sweden)

    Alceu Luiz Camargo Villela Berbert

    2009-07-01

    Full Text Available O pioderma gangrenoso é doença cutânea inflamatória rara, idiopática. Afeta principalmente adultos; apenas cerca de 4% dos casos são diagnosticados em crianças e adolescentes. Existem quatro formas clínicas de pioderma gangrenoso: ulcerativa, pustular, bolhosa e vegetante (pioderma granulomatoso superficial. O pioderma granulomatoso superficial é considerado a forma mais benigna e incomum da doença. Em pacientes submetidos a manipulação cirúrgica, uma eventual manifestação do pioderma gangrenoso ocorre nos locais de intervenção. Relata-se o caso de criança de cinco anos de idade, vítima de queimadura, que apresentou pioderma granulomatoso superficial sobre áreas doadoras de enxertos.Pyoderma gangrenosum is a rare idiopathic skin disease. It affects mainly adults, and only 4% of the cases are diagnosed on children and adolescents. There are four clinical forms of pyoderma gangrenosum: ulcerative, pustular, bullous, and vegetative (superficial granulomatous pyoderma. Superficial granulomatous pyoderma is considered the most benign and uncommon form of the disease. Patients who have undergone surgical procedures may occasionally present pyoderma gangrenosum manifestations on the surgical site. A case of a five-year-old child, victim of burn, who presented superficial granulomatous pyoderma on the skin graft donor sites is reported.

  10. An uncommon cause of bifacial weakness and non-length-dependent demyelinating neuropathy

    Directory of Open Access Journals (Sweden)

    Madhu Nagappa

    2015-01-01

    Full Text Available Tangier disease is a rare metabolic disorder that causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle-aged gentleman of Tangier disease who was initially diagnosed as leprosy and treated with antileprosy drugs. The presence of a demyelinating electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis.

  11. Peyronie's disease - a perspective on the disease and the long-term ...

    African Journals Online (AJOL)

    albuginea.I The plaque may extend into the corpus cavernosum.' The true incidence of Peyronie's disease is unknown bur it is not an uncommon disease.' The natural history is vague",7 bur it is a self-limiting disease; the active stage apparently lasts from 12 to 18 months.' The plaque may recede spontaneously and even ...

  12. Uncommon case of tibial bone infarction associated with juvenile idiopathic arthritis.

    Science.gov (United States)

    Ibn Yacoub, Yousra; Rostom, Samira; Amine, Bouchra; Hajjaj-Hassouni, Najia

    2010-04-01

    Bone infarction refers to aseptic osteonecrosis occurring in the metaphysis and diaphysis of long bones. Hemoglobinopathies, sickle cell disease, and Gaucher's disease are usually found. Bone infarction is rarely idiopathic. Magnetic resonance imaging has proved to be more specific to identify bone infarction.We report an exceptional case of a unique idiopathic bone infarction of distal tibia, occurring unusually in a patient with juvenile idiopathic arthritis, without major risk factors of osseous infarct, and with atypical clinical and biological abnormalities.

  13. DISEASES

    DEFF Research Database (Denmark)

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi

    2015-01-01

    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

  14. The “Pearls” of Multidisciplinary Team: Conquering the Uncommon Rosette Rash

    Directory of Open Access Journals (Sweden)

    Nitin Verma

    2016-01-01

    Full Text Available Linear IgA disease of childhood (LAD also known as chronic bullous disease of childhood is an autoimmune disease with IgA deposition at the basement membrane zone leading to a vesiculobullous rash. It has a clinical appearance which frequently is described as resembling “strings of pearls” or rosette-like. Diagnosis is usually clinical but sometimes biopsy is required. Dapsone is widely considered to be the first line therapy in the treatment of LAD. A 5-year-old girl presented with 4-day history of a widespread painful rash and pyrexia. The rash transformed into painful blisters. A recent contact with chickenpox was present. She remained apyrexial but hemodynamically stable and was treated as chickenpox patient with secondary infection. Due to persistent symptoms after repeated attendance she was reviewed by Dermatology team and diagnosed with linear IgA disease also known as chronic bullous disease of childhood. This was based on the presence of blistering rash with rosette appearance and string of pearl lesions. The clinical features of LAD can be difficult to distinguish from more common skin infections. Benefiting from the experience of other multidisciplinary teams can sometimes be a game changer and can lead to the correct diagnosis and treatment.

  15. Borderline phyllodes tumor of breast in a premenarchal girl: A relatively common tumor at an uncommon age

    Directory of Open Access Journals (Sweden)

    Akhil Kapoor

    2016-06-01

    Full Text Available Phyllodes tumors are relatively rare breast lesions that usually occur in the age group of 35 ‒ 55 years. It is a very rare diagnosis in young girls, particularly at prepubertal age. Because of the uncommon nature of this tumor in children, it may be misdiagnosed leading to inappropriate management. We report a case of a 9–year-old girl who was diagnosed as a case of borderline phyllodes tumor left breast. Simple mastectomy without axillary staging was performed. She has recovered well and is on follow up.

  16. Right Brain/Left Brain President Barack Obama's Uncommon Leadership Ability and How We Can Each Develop It

    CERN Document Server

    Decosterd, Mary Lou

    2010-01-01

    Right Brain/Left Brain President: Barack Obama's Uncommon Leadership Ability and How We Can Each Develop It is an inspirational guide to leadership as it should be practiced, conveyed through an up-close look at the man who sets the new leadership bar. Author Mary Lou D'costerd uses her Right Brain/Left Brain Leadership Model to frame Barack Obama's leadership skill sets. Her book shows that Obama's unique brand of leadership is the result of his extraordinary ability to leverage full-brain potential in the ways he thinks, decides, and acts. ||Right Brain/Left Brain President examines Obama's

  17. Pleomorphic Adenoma of Breast: A Radiological and Pathological Study of a Common Tumor in an Uncommon Location

    Directory of Open Access Journals (Sweden)

    Paula S. Ginter

    2015-01-01

    Full Text Available Pleomorphic adenoma occurs commonly in the major salivary glands but is uncommonly encountered in the breast. In both of these locations, the tumor is typically grossly circumscribed and has a “mixed” histological appearance, being composed of myoepithelial and epithelial components amid a myxochondroid matrix. Herein, we report a case of pleomorphic adenoma of the breast which was preoperatively thought to represent a fibroadenoma on clinical and radiological grounds. It is the rarity of the tumor in the breast, rather than its histological appearance, that causes diagnostic difficulty.

  18. The V617F mutation of JAK2 is very uncommon in patients with thrombosis.

    Science.gov (United States)

    Remacha, Angel F; Estivill, Camino; Sarda, M Pilar; Mateo, José; Souto, Joan Carles; Canals, Carme; Nomdedéu, Josep; Fontcuberta, Jordi

    2007-02-01

    Given that many cases of thrombosis do not have a clear cause, a myeloproliferative disease could be involved. We investigated the V617F mutation of the JAK2 gene in 295 patients with thrombosis. Only one case was positive. Therefore, the study of this mutation is not necessary in all patients with idiopathic thrombosis.

  19. Mycobacterium bovis and Other Uncommon Members of the Mycobacterium tuberculosis Complex.

    Science.gov (United States)

    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.

  20. Leukodystrophy Presenting as Hyperactivity and Bipolarity with Uncommon Adverse Drug Reaction

    OpenAIRE

    Roshan Sutar; Anirban Ray; Shekhar P Sheshadri

    2017-01-01

    Leukodystrophy is a group of demyelinating neurodegenerative diseases of brain with varied presentation and multiple etiologies. Prognosis is predominantly dismal. Misdiagnosis and wrong treatment are common in this group of rare neurological disorders, especially when it presents with psychiatric symptoms. In this case, importance of neurological and radiological evaluation and need for high diagnostic suspicion in treatment-resistant psychiatric disorders is highlighted.

  1. Leukodystrophy Presenting as Hyperactivity and Bipolarity with Uncommon Adverse Drug Reaction.

    Science.gov (United States)

    Sutar, Roshan; Ray, Anirban; Sheshadri, Shekhar P

    2017-01-01

    Leukodystrophy is a group of demyelinating neurodegenerative diseases of brain with varied presentation and multiple etiologies. Prognosis is predominantly dismal. Misdiagnosis and wrong treatment are common in this group of rare neurological disorders, especially when it presents with psychiatric symptoms. In this case, importance of neurological and radiological evaluation and need for high diagnostic suspicion in treatment-resistant psychiatric disorders is highlighted.

  2. Melanoacanthoma: Uncommon presentation of an uncommon condition

    Directory of Open Access Journals (Sweden)

    Resham J Vasani

    2013-01-01

    Full Text Available Melanoacanthoma is very rare variant of seborrheic keratosis presenting as a deeply pigmented benign proliferation of melanocytes and keratinocytes usually presenting over the head, neck and trunk of elderly people. A sixty-two-years-old male was presented with a solitary slow growing asymptomatic hyperpigmented verrucous outgrowth with cerebriform surface measuring 15 cm by 8 cm present over the left inguinal region extending on to the scrotum since past 8 years. There was no associated lymphadenopathy. The histopathology revealed hyperkeratosis, papillomatosis, acanthosis with presence of melanocytes at all levels of epidermis with abundant melanin giving the diagnosis of melanoacanthoma. The patient further underwent surgical excision of the lesion. The case is being reported for its rarity, unusual location, massive size and clinical resemblance to a verrucous carcinoma.

  3. disease

    African Journals Online (AJOL)

    Objective. To undertake an economic evaluation of the administration and monitoring costs of the two different forms of heparin in patients with unstable coronary artery disease (DCAD). Study design. Equivalent efficacy was found for low- molecular-weight heparin (LMWH) and for unfraction- ated heparin (UFH) in the ...

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

    Energy Technology Data Exchange (ETDEWEB)

    Watson, R.

    1995-07-01

    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 and 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.

  5. Retroperitoneal sclerosing PEComa with melanin pigmentation and granulomatous inflammation-A rare association within an uncommon tumor

    Directory of Open Access Journals (Sweden)

    Bharat Rekhi

    2012-01-01

    Full Text Available PEComa, defined as a perivascular epithelioid cell tumor, displays a wide clinicopathological spectrum. Lately, a sclerosing PEComa has been identified as its distinct variant, but with limited documentation, in view of its rarity. Herein, we describe an uncommon case of a 53-year-old lady, who was referred to us with pain abdomen. Radiological imaging disclosed a well-defined, hypodense retroperitoneal mass. The excised tumor was a round, encapsulated soft tissue mass measuring 7 cm with a tan-brown cut surface. Microscopy showed uniform, epithelioid cells with clear cytoplasm, focal melanin pigmentation and mild nuclear atypia, arranged in sheets and nests around capillary-sized vessels in a dense sclerotic stroma. Additionally, co-existing epithelioid granulomas were noted. On immunohistochemistry (IHC, tumor cells were diffusely positive for HMB45; focally for desmin and smooth muscle actin (SMA, while negative for EMA, CD10, S100-P, Melan A, CD34, AMACR and CK MNF116. This case reinforces sclerosing PEComa as an uncommon, but a distinct clinicopathological entity and exemplifies diagnostic challenge associated with it; necessitating application of IHC markers for its correct identification. Presence of melanin pigment and granulomatous inflammation in the present tumor constitute as novel histopathological findings in a sclerosing PEComa.

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

    Science.gov (United States)

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

    2012-09-01

    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. 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. 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. 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.

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

    Science.gov (United States)

    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 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

  8. Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.

    Science.gov (United States)

    Valdes-Flores, Margarita; Hidalgo-Bravo, Alberto; Casas-Avila, L; Chima-Galan, Carmen; Hazan-Lasri, Eric J; Pineda-Gomez, Ernesto; Lopez-Estrada, Druso; Zenteno, Juan C

    2014-01-01

    Pyknodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, deformity of the skull, osteosclerosis, hypoplasia of the clavicle, and bone fragility. Radiographs show increased bone density, osteosclerosis, and acroosteolysis of the terminal phalanges. The pycnodysostosis gene is located on chromosome 1q21 and encodes an enzyme called Cathepsin K. Cathepsin K is a cysteine protease lysosomal protein associated with the degradation of bone and cartilage. In the current study, the authors described the clinical, radiological and molecular features of a group of six Mexican patients, including two familial and two sporadic cases, with Pyknodysostosis. One of the patients presented hypoacusia, an unusual finding in this disease.

  9. October 2012 pulmonary case of the month: hempotypsis from an uncommon cause

    Directory of Open Access Journals (Sweden)

    Wesselius LJ

    2012-10-01

    Full Text Available No abstract available. Article truncated at 150 words. History of Present IllnessA 39 year old woman is seen with a history of cough intermittently productive of small amounts of blood or blood-tinged sputum for 4 months. She reports no other respiratory symptoms and has otherwise felt well. PMH, FH and SHThere was no significant PMH and no prior history of lung disease. Her father has a history of Parkinson’s disease and osteosarcoma. She is a nonsmoker, does not drink alcohol, and has never abused drugs. She has 2 children and is engaged to be remarried. Physical ExaminationHer physical examination is normal. Chest X-rayHer chest x-ray is below (Figure 1. Figure 1. Panel A: Frontal chest radiography. Panel B: Lateral chest radiography.Laboratory EvaluationHemoglobin was 13.2 g/dL and WBC was 8400 cells/μL with a normal differential. Urinanalysis was unremarkable. Which of the following statements regarding hemoptysis is or are true?1.A normal chest …

  10. Onychomadesis in a 9-month-old boy with hand-foot-mouth disease

    National Research Council Canada - National Science Library

    Mortada, Ibrahim; Mortada, Rola; Al Bazzal, Mohamad

    2017-01-01

    Nail abnormalities in childhood are generally uncommon. Recently, onychomadesis is described as a rare, late complication of hand-foot-mouth disease, which is a viral illness commonly seen in the pediatric age group...

  11. Osteopetrosis (Marble Bone Disease): A Rare Disease in Children

    OpenAIRE

    Reddy MH, Raghunath

    2011-01-01

    Osteopetrosis is a group of diseases that affects the growth and remodeling of bone and characterized by over growth and sclerosis of bone, with thickening of the bony cortices, abnormal dental development and narrowing of the marrow cavities throughout the skeleton. It is an uncommon disease of unknown cause. A 5-year-old boy was suffering from infantile (severe form) osteopetrosis with cardiac enlargement, severe anemia, hepatosplenomagaly and radiographs showed generalized increase in bone...

  12. Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes.

    Science.gov (United States)

    Lindor, Noralane M; Hopper, John; Dowty, James

    2016-07-01

    The rapid clinical embrace of next generation multigene cancer predisposition panels has resulted in discovery of DNA variants in genes for which very limited data on penetrance has been published. Evidence for increased risks associated with these genes is often expressed in odds ratios and studies often were conducted on a priori high risk cohorts, i.e. those with young onset disease and/or positive family histories. Despite these limitations, one can estimate cumulative risks, which may be useful for health care providers who are counselling individuals on their results. We present cumulative risks for several under-studied genes and provide generic information that can be extrapolated to data still emerging.

  13. Common and uncommon features of focal splenic lesions on contrast-enhanced ultrasound: a pictorial review

    Energy Technology Data Exchange (ETDEWEB)

    Zavariz, Julia D., E-mail: julia.zavariz@hc.fm.usp.br [Universidade de São Paulo (HC/FMUSP), São Paulo, SP (Brazil). Faculdade de Medicina. Hospital das Clínicas; Konstantatou, Eleni; Deganello Annamaria; Bosanac, Diana; Huang, Dean Y.; Sellars, Maria E.; Sidhu, Paul S. [Department of Radiology, King’s College Hospital, Denmark Hill, London (United Kingdom)

    2017-11-15

    The characterization of focal splenic lesions by ultrasound can be quite challenging. The recent introduction of contrast-enhanced ultrasound (CEUS) has come to play a valuable role in the field of imaging splenic pathologies, offering the possibility of an ionizing radiation-free investigation. Because CEUS has been incorporated into everyday clinical practice, malignant diseases such as focal lymphomatous infiltration, metastatic deposits, benign cysts, traumatic fractures, and hemangiomas can now be accurately depicted and characterized without the need for further imaging. More specifically, splenic traumatic fractures do not require additional imaging by computed tomography (with ionizing radiation exposure) for follow-up, because splenic fractures and their complications are safely imaged with CEUS. In the new era of CEUS, more patients benefit from radiation-free investigation of splenic pathologies with high diagnostic accuracy. (author)

  14. Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population.

    Science.gov (United States)

    Peng, Lan; Wang, Chunrong; Chen, Zhao; Wang, Jun-Ling; Tang, Bei-Sha; Jiang, Hong

    2013-07-01

    The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders, among which SCA subtype 13 (SCA13) was found associated with mutations in the KCNC3 gene. Among 522 Chinese Han SCA patients (including familial and sporadic) we have collected since 1995, approximately 40% of them have not yet been assigned genotype. To investigate the mutation frequency of KCNC3 in SCA patients from mainland Chinese Han population, we analyzed the KCNC3 gene in 201 unrelated patients diagnosed with dominantly inherited cerebellar ataxia using the denaturing high-performance liquid chromatography (DHPLC) method. All analyzed samples displayed the normal elution profile, which denoted that no disease-related mutation was identified, suggesting that SCA13 be a rare form of SCA in mainland China.

  15. Mesenteric Inflammatory Venoocclusive Disease in a Patient with Sjögren’s Syndrome

    Directory of Open Access Journals (Sweden)

    Raquel Rios-Fernández

    2014-01-01

    Full Text Available Mesenteric inflammatory venoocclusive disease is an uncommon cause of intestinal ischemia. Certain diseases, such as hypercoagulation disorders, autoimmune diseases, or drugs have been associated with the pathogenesis of mesenteric inflammatory venoocclusive disease. Here, we report a patient with Sjögren’s syndrome who underwent surgery for suspected acute appendicitis with a subsequent pathological diagnosis of mesenteric inflammatory venoocclusive disease.

  16. Characterization of Salmonella enterica Ituri isolated from diseased ...

    African Journals Online (AJOL)

    Salmonella enterica Ituri is an uncommon serotype associated with poultry disease. One of the serotype isolated from a poultry disease in Nigeria was characterized by serotyping and screening for the presence of Salmonella genomic island 1(SGI1) as a possible factor responsible for its involvement in a poultry disease ...

  17. aorto-iliac occlusive disease in the different population groups

    African Journals Online (AJOL)

    T E Madiba, M Mars, J V Robbs. Background. It has previously been accepted that atherosclerotic disease is uncommon among blacks worldv.ride; however, recent studies have increasingly reported atherosclerotic disease in this group. Study design. Prospective study of hospital patients with aorta-iliac occlusive disease ...

  18. Pancreatic neuroendocrine tumour (PNET): Staging accuracy of MDCT and its diagnostic performance for the differentiation of PNET with uncommon CT findings from pancreatic adenocarcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Hoon; Lee, Jeong Min; Han, Joon Koo; Choi, Byung-Ihn [Seoul National University Hospital, Department of Radiology, 101 Daehangno, Jongno-gu, Seoul (Korea, Republic of); Seoul National University College of Medicine, Institute of Radiation Medicine, Seoul (Korea, Republic of); Eun, Hyo Won [Yonsei University College of Medicine, Department of Radiology, Severance Hospital, Seodaemun-ku, Seoul (Korea, Republic of); Kim, Young Jae [Soonchunhyang University Hospital, Department of Radiology, 657 Hannam-Dong, Youngsan-Ku, Seoul (Korea, Republic of)

    2016-05-15

    To investigate staging accuracy of multidetector CT (MDCT) for pancreatic neuroendocrine tumour (PNET) and diagnostic performance for differentiation of PNET from pancreatic adenocarcinoma. We included 109 patients with surgically proven PNET (NETG1 = 66, NETG2 = 31, NEC = 12) who underwent MDCT. Two reviewers assessed stage and presence of predefined CT findings. We analysed the relationship between CT findings and tumour grade. Using PNETs with uncommon findings, we also estimated the possibility of PNET or adenocarcinoma. Accuracy for T stage was 85-88 % and N-metastasis was 83-89 %. Common findings included well circumscribed, homogeneously enhanced, hypervascular mass, common in lower grade tumours (p < 0.05). Uncommon findings included ill-defined, heterogeneously enhanced, hypovascular mass and duct dilation, common in higher grade tumours (p < 0.05). Using 31 PNETs with uncommon findings, diagnostic performance for differentiation from adenocarcinoma was 0.760-0.806. Duct dilatation was an independent predictor for adenocarcinoma (Exp(B) = 4.569). PNETs with uncommon findings were associated with significantly worse survival versus PNET with common findings (62.7 vs. 95.7 months, p < 0.001). MDCT is useful for preoperative evaluation of PNET; it not only accurately depicts the tumour stage but also prediction of tumour grade, because uncommon findings were more common in higher grade tumours. (orig.)

  19. How accurate are diagnostic tools for Epstein-Barr virus (EBV) to establish causal association of an uncommon clinical condition with EBV?

    Science.gov (United States)

    Neocleous, C; Adramerina, A; Spanou, C; Spyrou, G; Mitsios, A; Dragoumi, M; Tzanetis, F

    2013-01-01

    Epstein-Barr virus (EBV) infection has been implicated as a possible cause of a wide range of clinical conditions in children and young adults. In uncommon clinical conditions, where clinical experience is missing, it is important to evaluate both the biological plausibility and the virological basis that substantiates their causal association with EBV. By reviewing the diagnostic procedures performed in the diagnosis of EBV infection in case reports concerning uncommon clinical conditions causally related to EBV infection in children and young adults, the aim of the present study was to discuss the limitations of the diagnostic procedure used to establish EBV diagnosis, which may cause false-positive results and compromise the reliability of such a diagnosis. We should be aware not only of the nuances of serological tests and virus detection tests for latent viruses such as EBV, but also of the risk of using them alone or in combination with molecular methods as the sole mean for establishing a causal relation between EBV infection and an uncommon clinical condition. Accurate laboratory tests for EBV detection, strict criteria for EBV infection diagnosis, and a cumulative clinical experience coupled with biological plausibility and experimental data are needed to avoid a possible coincidental association between several clinical manifestations, mainly uncommon clinical conditions, and EBV infection. Epstein-Barr virus; diagnostics; uncommon condition.

  20. Ameloblastic Fibroodontoma: Uncommon Case Presentation in a 6-Year-Old Child with Review of the Literature

    Directory of Open Access Journals (Sweden)

    Anshad Mohamed Abdulla

    2017-01-01

    Full Text Available Ameloblastic fibroodontoma is a benign mixed odontogenic neoplasm considered in patients with asymptomatic swelling and unerupted teeth that exhibit histologic features between ameloblastic fibroma and complex odontoma. Radiographically, this lesion appears as radiolucency admixed with focal radio opaque masses of irregular shapes and sizes. This lesion is confirmed by the presence of proliferating odontogenic epithelium, ectomesenchyme, and dental hard tissue formation on pathological analysis supplementing clinical and radiographic findings. As this tumour is less commonly seen in routine clinical practice, ameloblastic fibroodontoma with detailed orofacial features and periodic approach to its diagnosis is discussed. This paper reports a case of ameloblastic fibroodontoma of the mandible in a 6-year-old male patient with an uncommon case presentation and review of the literature.

  1. High prevalence, low counts and uncommon serotypes of Listeria monocytogenes in linguiça, a Brazilian fresh pork sausage.

    Science.gov (United States)

    Miyasaki, Keila Naomi; Chiarini, Eb; Sant Ana, Anderson de Souza; Destro, Maria Teresa; Landgraf, Mariza; Franco, Bernadette Dora Gombossy de Melo

    2009-11-01

    Linguiça is a highly popular and appreciated pork product in Brazil, frequently consumed undercooked. Aiming at collection of data for a future risk assessment, this study evaluated the prevalence and counts of Listeria monocytogenes in linguiça samples collected at retail level in Sao Paulo, SP, Brazil. ISO methods were used for detection and enumeration of the pathogen (11290-1 and 11290-2, respectively). Isolates were submitted to Simplex-PCR for hlyA gene and those with biochemical features of L. monocytogenes and hlyA positive were serotyped using a Multiplex PCR. Ninety percent of the samples were positive for Listeria spp., and L. monocytogenes was detected in 42% of the samples, with counts below 10(2)CFU/g in all samples. A prevalence of uncommon serotypes 4a and 4c was observed.

  2. Osteolytic-variant POEMS syndrome: an uncommon presentation of ''osteosclerotic'' myeloma

    Energy Technology Data Exchange (ETDEWEB)

    Clark, Michael S.; Howe, Benjamin M.; Glazebrook, Katrina N.; Broski, Stephen M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Mauermann, Michelle L. [Mayo Clinic, Department of Neurology, Rochester, MN (United States)

    2017-06-15

    Polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (POEMS) syndrome, a form of osteosclerotic myeloma, is a multisystem disease related to a monoclonal plasma cell proliferative disorder. Osseous lesions are most commonly sclerotic on radiographs and computed tomography (CT), demonstrate low T1 and T2 signal intensity on magnetic resonance imaging (MRI), and have variable degrees of avidity on positon emission tomography (PET) imaging using 18-fluorodeoxyglucose ({sup 18}F-FDG). We present three cases of POEMS syndrome manifesting as osteolytic lesions with indolent features, including well-defined thin sclerotic rims, no cortical disruption or periosteal reaction, no associated soft-tissue mass, and a periarticular location, all features that could lead to misinterpretation as benign bone lesions. We also report increased T1 signal and diffuse solid enhancement of these lesions on MRI, features previously unreported. POEMS syndrome should not be discounted as a diagnostic consideration in the setting of osteolytic lesions with non-aggressive imaging characteristics on radiographs or CT, especially in the presence of other supportive clinical features. (orig.)

  3. Cutaneous myeloid sarcoma: natural history and biology of an uncommon manifestation of acute myeloid leukemia.

    Science.gov (United States)

    Hurley, M Yadira; Ghahramani, Grant K; Frisch, Stephanie; Armbrecht, Eric S; Lind, Anne C; Nguyen, Tudung T; Hassan, Anjum; Kreisel, Friederike H; Frater, John L

    2013-05-01

    We conducted a retrospective study of patients with cutaneous myeloid sarcoma, from 2 tertiary care institutions. Eighty-three patients presented, with a mean age of 52 years. Diagnosis of myeloid sarcoma in the skin was difficult due to the low frequency of myeloperoxidase and/or CD34+ cases (56% and 19% of tested cases, respectively). Seventy-one of the 83 patients (86%) had ≥ 1 bone marrow biopsy. Twenty-eight (39%) had acute myeloid leukemia with monocytic differentiation. Twenty-three had other de novo acute myeloid leukemia subtypes. Thirteen patients had other myeloid neoplasms, of which 4 ultimately progressed to an acute myeloid leukemia. Seven had no bone marrow malignancy. Ninety-eight percent of the patients received chemotherapy, and approximately 89% died of causes related to their disease. Cutaneous myeloid sarcoma in most cases represents an aggressive manifestation of acute myeloid leukemia. Diagnosis can be challenging due to lack of myeloblast-associated antigen expression in many cases, and difficulty in distinguishing monocyte-lineage blasts from neoplastic and non-neoplastic mature monocytes.

  4. Pemphigus vulgaris with squamous cell carcinoma of the tongue: An uncommon association

    Directory of Open Access Journals (Sweden)

    Gandikota Raghu Rama Rao

    2017-07-01

    Full Text Available Pemphigus Vulgaris (PV is an autoimmune blistering disease wherein, many keratinocyte adhesion molecules (desmogleins are targets of circulating autoantibodies like anti desmoglein 3 (DSG3 and desmoglein 1 (DSG1 antibodies. DSG3 appears to be of primary importance in maintaining the integrity of oral epithelium. It is targeted in pemphigus vulgaris and paraneoplastic pemphigus with severe oral involvement. DSG1, on the other hand is essential for the integrity of non-mucosal skin surface. Recent studies have shown that desmosomes are not merely static structures but may also play an important role in the regulation of cell-proliferation, apoptosis and migration. Thus, desmosomes have a potential role in cancer development can be hypothesized. Cases of PV with systemic malignancies have been reported frequently but PV with cancers of oral cavity and tongue are rarely reported. The link between PV and malignancy still needs to be elucidated. We report a 35-year-old man with PV in whom Squamous Cell Carcinoma of the tongue developed subsequently. We tried to explore the role of antidesmosomal antibodies for association of these two conditions with the help of the available literature.

  5. Spontaneous Spleen Rupture in a Teenager: An Uncommon Cause of Acute Abdomen

    Directory of Open Access Journals (Sweden)

    Verroiotou Maria

    2013-01-01

    Full Text Available Spontaneous spleen rupture is a rare complication of infectious diseases and it can become a potentially life-threatening condition if not diagnosed in time. A 17-year-old Greek female presented to the ER due to acute abdominal pain, mainly of the left upper quadrant. She had no recent report of trauma. The patient was pale, her blood pressure was 90/70 mmHg, and her pulse was 120 b/min. Clinical examination of the abdomen revealed muscle contraction and resistance. The patient was submitted to an ultrasound of the upper abdomen and to a CT scanning of the abdomen that revealed an extended intraperitoneal hemorrhage due to spleen rupture. Due to the patient’s hemodynamic instability, she was taken to the operation room and splenectomy was performed. Following a series of laboratory examinations, the patient was diagnosed to be positive for current cytomegalovirus infection. The postoperative course was uneventful, and in a two year follow-up the patient is symptom-free. Spontaneous spleen rupture due to Cytomegalovirus infection is a rare clinical entity, described in few case reports in the world literature and should always be taken into consideration in differential diagnosis of acute abdomen, especially in adolescents with no recent report of trauma.

  6. Thoracic Kyphosis is Now Uncommon Amongst Children and Adolescents with Cystic Fibrosis.

    Science.gov (United States)

    Barker, Nicki; Raghavan, Ashok; Buttling, Pauline; Douros, Kostas; Everard, Mark Lloyd

    2014-01-01

    Historically, thoracic kyphosis has been reported to be common amongst patients with cystic fibrosis (CF). The mechanisms leading to the development of this abnormality of the chest wall are not fully understood. In order to explore the prevalence of the condition amongst children with CF in the early twenty-first century and to explore factors that might be contributing to its development, a retrospective cross sectional study was undertaken in a regional CF unit. Data were obtained from 74 children with CF aged 8-16 years attending for their annual review. Thoracic kyphosis was measured from lateral chest X-ray using an alternative Cobb method. Lung function, disease severity, and nutritional status were also recorded. Correlations between measures were explored using a multiple linear regression model. The range of Cobb angles measured was 5.4-44.3° with thoracic kyphosis identified in only two subjects. There was no correlation between age and thoracic kyphosis, however, there was a significant correlation between lung function and thoracic kyphosis (p = 0.004). Regression coefficient (b) was -0.26 (95% CI: -0.44, -0.08). The prevalence of thoracic kyphosis is significantly less amongst children with CF than previously reported. This appears likely to be associated with the overall improvements in pulmonary status. Studies of older populations may bring further understanding of increasing thoracic kyphosis in people with CF.

  7. Thoracic kyphosis is now uncommon amongst children and adolescents with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Nicki eBarker

    2014-02-01

    Full Text Available Historically, thoracic kyphosis has been reported to be common amongst patients with cystic fibrosis. The mechanisms leading to the development of this abnormality of the chest wall are not fully understood. In order to explore the prevalence of the condition amongst children with cystic fibrosis in the early C21st and to explore factors that might be contributing to its development a retrospective cross sectional study was undertaken in a regional cystic fibrosis unit. Data was obtained from 74 children with cystic fibrosis aged 8 to 16 years attending for their annual review. Thoracic kyphosis was measured from lateral chest x-ray using an alternative Cobb Method. Lung function, disease severity and nutritional status were also recorded. Correlations between measures were explored using a multiple linear regression model.The range of Cobb angles measured was 5.4 to 44.3 degrees with thoracic kyphosis identified in only 2 subjects. There was no correlation between age and thoracic kyphosis, however, there was a significant correlation between lung function and thoracic kyphosis (p=0.004. Regression coefficient (b was -0.26 (95% CI: -0.44, -0.08. The prevalence of thoracic kyphosis is significantly less amongst children with cystic fibrosis than previously reported. This appears likely to be associated with the overall improvements in pulmonary status. Studies of older populations may bring further understanding of increasing thoracic kyphosis in people with cystic fibrosis.

  8. Idiopathic Splenic Artery Pseudoaneurysm Rupture as an Uncommon Cause of Hemorrhagic Shock

    Directory of Open Access Journals (Sweden)

    Richard A. Schatz MD

    2015-04-01

    Full Text Available Splenic artery pseudoaneurysms are infrequently encountered but critical to recognize. Limited literature to date describes associations with pancreatitis, trauma, and rarely peptic ulcer disease. Hemorrhage and abdominal pain are the most common manifestations. There is typically overt gastrointestinal blood loss but bleeding can also extend into the peritoneum, retroperitoneum, adjacent organs, or even a pseudocyst. Most patients with ruptured splenic artery pseudoaneurysms present with hemodynamic instability. Here, we describe a patient recovering from acute illness in the intensive care unit but with otherwise no obvious risk factors or precipitants for visceral pseudoaneurysm. He presented with acute onset altered mental status, nausea, and worsening back and abdominal pain and was found to be in hypovolemic shock. The patient was urgently stabilized until more detailed imaging could be performed, which ultimately revealed the source of blood loss and explained his rapid decompensation. He was successfully treated with arterial coiling and embolization. Thus, we herein emphasize the importance of prompt recognition of hemorrhagic shock and of aggressive hemodynamic stabilization, as well as a focused diagnostic approach to this problem with specific treatment for splenic artery pseudoaneurysm. Finally, we recommend that multidisciplinary management should be the standard approach in all patients with splenic artery pseudoaneurysm.

  9. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

    Science.gov (United States)

    Calmels, Nadège; Greff, Géraldine; Obringer, Cathy; Kempf, Nadine; Gasnier, Claire; Tarabeux, Julien; Miguet, Marguerite; Baujat, Geneviève; Bessis, Didier; Bretones, Patricia; Cavau, Anne; Digeon, Béatrice; Doco-Fenzy, Martine; Doray, Bérénice; Feillet, François; Gardeazabal, Jesus; Gener, Blanca; Julia, Sophie; Llano-Rivas, Isabel; Mazur, Artur; Michot, Caroline; Renaldo-Robin, Florence; Rossi, Massimiliano; Sabouraud, Pascal; Keren, Boris; Depienne, Christel; Muller, Jean; Mandel, Jean-Louis; Laugel, Vincent

    2016-03-22

    Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisystem condition known as Cockayne syndrome (CS). In view of the clinical overlap between NER-related disorders, as well as the existence of multiple phenotypes and the numerous genes involved, we developed a new diagnostic approach based on the enrichment of 16 NER-related genes by multiplex amplification coupled with next-generation sequencing (NGS). Our test cohort consisted of 11 DNA samples, all with known mutations and/or non pathogenic SNPs in two of the tested genes. We then used the same technique to analyse samples from a prospective cohort of 40 patients. Multiplex amplification and sequencing were performed using AmpliSeq protocol on the Ion Torrent PGM (Life Technologies). We identified causative mutations in 17 out of the 40 patients (43%). Four patients showed biallelic mutations in the ERCC6(CSB) gene, five in the ERCC8(CSA) gene: most of them had classical CS features but some had very mild and incomplete phenotypes. A small cohort of 4 unrelated classic XP patients from the Basque country (Northern Spain) revealed a common splicing mutation in POLH (XP-variant), demonstrating a new founder effect in this population. Interestingly, our results also found ERCC2(XPD), ERCC3(XPB) or ERCC5(XPG) mutations in two cases of UV-sensitive syndrome and in two cases with mixed XP/CS phenotypes. Our study confirms that NGS is an efficient technique for the analysis of NER-related disorders on a molecular level. It is particularly useful for phenotypes with combined features or unusually mild symptoms. Targeted NGS used in conjunction with DNA repair functional tests and precise clinical evaluation permits rapid and cost-effective diagnosis in patients with NER-defects.

  10. Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults

    Directory of Open Access Journals (Sweden)

    Matthew Taylor

    2011-07-01

    Full Text Available Barth syndrome is an X-linked genetic condition featuring neutropenia, skeletal myopathy, and dilated cardiomyopathy in boys due to tafazzin (TAZ mutations. Pure dilated cardiomyopathy without other features of Barth syndrome may also result from TAZ mutations and survival into adulthood has been described. Although TAZ testing is routinely included in dilated cardiomyopathy panels in adults, the prevalence of TAZ mutations in the adult population, including women who may be at risk to develop later onset disease due to TAZ mutations, has not been measured. We screened 292 families with dilated cardiomyopathy (209 male and 83 female probands for TAZ mutations using denaturing high-performance liquid chromatography and sequence analysis. Putative mutations were evaluated based on standard criteria including screening available relatives and healthy controls and for effects on splicing efficiency in the case of one intronic variant. Two variants suspicious for being pathogenic were found in two unrelated families (c.387T>C, Phe128Ser and c.507C>T, Leu169Leu. The Phe128Ser variant had been previously reported as a pathogenic mutation; however we determined that this variant is instead a rare polymorphism restricted to African Americans. The Leu169Leu variant was detected in a male patient and altered RNA processing in our minigene assay supporting a pathogenic role. No mutations in female subjects were detected. Tafazzin mutations were rare in our population of adults with dilated cardiomyopathy and none were found in females. Our findings indicate that genetic testing for tafazzin should not be routinely performed in dilated cardiomyopathy as suggested by current guidelines. Furthermore, the Phe128Ser variant is not pathogenic, but likely represents a benign polymorphism in persons of African American ancestry.

  11. Extramammary Paget's Disease of the Perianal Region.

    Science.gov (United States)

    Devaji Rao, S; Govindarajan, Meera

    2017-08-01

    Extramammary Paget's disease (EMPD) is uncommon and only a few cases have been reported in the literature. They are identical to the Mammary Paget's disease. This can occur where the apocrine glands are in abundance, more commonly in the genitalia and perianal area. We report here a case of Extramammary Paget's disease in the perianal region. The colourful background of this ulcer is analysed and the literature reviewed.

  12. Cultural-Linguistic Aspects in Asian Language Teaching. Proceedings of the First Annual Meeting of the American Council of Teachers of Uncommonly-Taught Asian Languages.

    Science.gov (United States)

    Dardjowidjojo, Soenjono, Comp.

    Problems encountered by teachers of uncommonly-taught Asian languages attempting to teach the culture of the native speakers of the target language are discussed in these articles: (1) "Cultural Context, Linguistic Categories, and Foreign Language Teaching: A Case from Marathi" by Vasant S. Khokle, (2) "The Ethnology of Communication and the…

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

    NARCIS (Netherlands)

    Mello, E.; Posteraro, B.; Vella, A.; Carolis, E. De; Torelli, R.; D'Inzeo, T.; Verweij, P.E.; Sanguinetti, M.

    2017-01-01

    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

  14. Uncommon or cryptic? Challenges in estimating leopard seal abundance by conventional but state-of-the-art methods

    Science.gov (United States)

    Southwell, Colin; Paxton, Charles G. M.; Borchers, David; Boveng, Peter; Rogers, Tracey; de la Mare, William K.

    2008-04-01

    The method traditionally used to estimate pack-ice seal abundance employs sighting surveys from ships or aircraft to estimate the number of seals hauled out on the ice, combined with studies of haul-out behaviour to estimate the proportion of time spent on the ice. Application of this approach has been improved in recent times by developments in survey methodology and satellite technology that theoretically allow biases in the estimation of hauled-out abundance and haul-out behaviour to be accounted for that previously could not be addressed. A survey using these conventional but state-of-the-art methods was undertaken in the summer of 1999/2000 off east Antarctica between longitudes 64°E and 150°E to estimate the abundance of leopard ( Hydrurga leptonyx) and other pack-ice seal species. Because they are either uncommon or very cryptic, very few leopard seals were encountered despite a large survey effort. This presented challenges in both application of the methods and analysis of the data. Abundance estimates were derived using a number of plausible predictive models. The model considered as the most reliable returned best estimates of 7300 and 12,100 for definite and definite plus probable leopard seal sightings, respectively, with 95% confidence intervals of 3700-14,500 and 7100-23,400. These estimates are likely to be negatively biased and should be treated as minimum estimates only.

  15. 3-Methyl-2-butene-1-thiol: identification, analysis, occurrence and sensory role of an uncommon thiol in wine.

    Science.gov (United States)

    San-Juan, Felipe; Cacho, Juan; Ferreira, Vicente; Escudero, Ana

    2012-09-15

    A highly uncommon odorant, 3-methyl-2-butene-1-thiol was detected by using Gas Chromatography-Olfactometry (GC-O) and unequivocally identified for the first time in wine. A purge and trap sampling technique which provides highly representative extracts for olfactometric analysis was used for the extraction of the volatile fraction of a Spanish red wine made from Prieto Picudo grapes. The identification of the odorant was achieved by multidimensional gas chromatography analysis of the same purge and trap extract. Mass spectrum and retention indices in both polar and non-polar columns allowed knowing unequivocally the identity. To obtain quantitative data a method was validated for the analysis of the compound at ng L(-1) level with acceptable precision. This powerful odorant presented an odor threshold in wine of 0.5-1 ng L(-1) and it has been detected in several Prieto Picudo wines at concentrations slightly above the odor threshold. Copyright © 2012 Elsevier B.V. All rights reserved.

  16. Adult-Type Rhabdomyoma of the Larynx: Clinicopathologic Study of an Uncommon Tumor in a Rare Location

    Directory of Open Access Journals (Sweden)

    Giancarlo Altissimi

    2017-01-01

    Full Text Available Rhabdomyoma is an uncommon benign mesenchymal tumor with skeletal muscle differentiation that may occur either in the heart or in extracardiac sites. Even though the head and neck region is the most common area of extracardiac rhabdomyoma, the larynx is rarely involved. We present the case of an 85-year-old woman who reported a 10-day history of breathing difficulties, dysphagia, and dysphonia. A computed tomography scan of the head and neck showed a contrast-enhanced, solid hypopharyngeal-laryngeal neoplasm with well-defined margins causing subtotal obliteration of the right pyriform sinus and a reduction in air lumen of the laryngeal vestibule. The patient underwent complete endoscopic removal of the lesion; histologic examination revealed an adult-type rhabdomyoma based on the histologic features and the immunoreactivity of the neoplastic cells for desmin, myoglobin, and muscle-specific actin but not for cytokeratin, S-100, CD68R, chromogranin-A, and synaptophysin. Since clinical and imaging features are not specific for rhabdomyoma, histologic examination and immunohistochemical analyses play a central role in the differential diagnosis of the adult-type rhabdomyoma from other laryngeal neoplasms. A correct diagnosis is mandatory to avoid inappropriate treatment.

  17. (UnCommonly Connected

    Directory of Open Access Journals (Sweden)

    Emily M. Hodge

    2016-11-01

    Full Text Available As states continue to implement the Common Core State Standards (CCSS, state educational agencies (SEAs are providing professional development and curricular resources to help districts and teachers understand the standards. However, little is known about the resources SEAs endorse, the states and/or organizations sponsoring these resources, and how states and organizations are connected. This study investigates the secondary English/language arts resources provided by 51 SEAs (2,023 resources sponsored by 51 SEAs and 262 intermediary organizations. Social network analysis of states and sponsoring organizations revealed a core-periphery network in which certain states and organizations were frequently named as the sponsors of resources, while other organizations were named as resource sponsors by only one state. SEAs are providing a variety of types of resources, including professional development, curriculum guidelines, articles, and instructional aids. This study offers insight into the most influential actors providing CCSS resources at the state level, as well as how SEAs are supporting instructional capacity through the resources they provide for teachers.

  18. UNCOMMON SENSORY METHODOLOGIES

    Directory of Open Access Journals (Sweden)

    Vladimír Vietoris

    2015-02-01

    Full Text Available Sensory science is the young but the rapidly developing field of the food industry. Actually, the great emphasis is given to the production of rapid techniques of data collection, the difference between consumers and trained panel is obscured and the role of sensory methodologists is to prepare the ways for evaluation, by which a lay panel (consumers can achieve identical results as a trained panel. Currently, there are several conventional methods of sensory evaluation of food (ISO standards, but more sensory laboratories are developing methodologies that are not strict enough in the selection of evaluators, their mechanism is easily understandable and the results are easily interpretable. This paper deals with mapping of marginal methods used in sensory evaluation of food (new types of profiles, CATA, TDS, napping.

  19. An uncommon urticaria

    Directory of Open Access Journals (Sweden)

    Olivo Bertolo

    2007-10-01

    Full Text Available We report the case of a 57 year old woman who developed headache, nausea, palpitation, tachycardia and hypotensione 30 minutes after eating spoiled tuna. A detailed food history and clinical exclusion helped to confirm a suspected diagnosis of scombroid poisining. The sign, symptoms, pathophysiology and management of poisoning from spoiled scombroid fish are discussed. The patient doesn’t recovered in hospital, but she remained in Emergency Department for some hours under the medical observation; it was necessary for confirm the diagnosis and procure the therapy.

  20. The University's Uncommon Community

    Science.gov (United States)

    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…

  1. The Uncommon Core

    Science.gov (United States)

    Ohler, Jason

    2013-01-01

    This author contends that the United States neglects creativity in its education system. To see this, he states, one may look at the Common Core State Standards. If one searches the English Language Arts and Literacy standards for the words "creative," "innovative," and "original"--and any associated terms, one will…

  2. Characterization of Salmonella enterica Ituri isolated from diseased ...

    African Journals Online (AJOL)

    User

    2013-04-17

    Apr 17, 2013 ... Salmonella enterica Ituri is an uncommon serotype associated with poultry disease. One of the serotype isolated from a poultry disease in Nigeria was characterized by serotyping and screening for the presence of Salmonella genomic island 1(SGI1) as a possible factor responsible for its involvement.

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

    NARCIS (Netherlands)

    Nederend, I.; Jongbloed, M.R.M.; de Geus, J.C.N.; Blom, N.A.; ten Harkel, A.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

  4. A FIVE-YEAR HISTOPATHOLOGICAL REVIEW OF CNS TUMOURS IN A TERTIARY CENTRE WITH EMPHASIS ON DIAGNOSTIC ASPECTS OF UNCOMMON TUMOURS

    Directory of Open Access Journals (Sweden)

    Premalatha Pidakala

    2016-06-01

    Full Text Available BACKGROUND Tumours of central nervous system (CNS are of varied histogenesis and show divergent lines of differentiation and morphological features. These tumours show specific predilection for age and sex groups, more commonly than of tumours of other systems. Though tumours of glial tissue are more common, other tumours of neural, ependymal and meningeal origin are not uncommon. Metastatic disease is the common encounter in elderly. Tumour diagnosis is not always straight forward as many non-neoplastic lesions and reactive proliferations mimic tumours. Immunohistochemistry may help in problematic cases and thus can be used as an adjuvant tool in the diagnosis of such cases in addition to the routine histopathological staining methods. An accurate histological diagnosis is of extreme importance in these sites as exact diagnosis helps in proper management and favourable clinical outcome. MATERIAL & METHODS This study is on a retrospective and prospective basis in our institution from January 2011 to January, 2016. Our institute is a tertiary care center attached to a medical college catering to the needs of a rural based population. During this period, a total of 717 central nervous system tumour specimens were received and diagnosed based on examination of Haematoxylin and Eosin stained sections of formalin fixed and paraffin embedded specimens. Immunohistochemical markers (IHC were applied in selective cases for an accurate diagnosis and a number of rare cases were diagnosed based on morphology and IHC marker studies. RESULTS Age and sex incidence and anatomic distribution of various tumours were studied. In adults, meningiomas occurred most frequently in the present study followed by nerve sheath tumours, astrocytomas, metastatic deposits, glioblastomas and pituitary adenomas. Embryonal tumours occurred frequently in children. Other rare tumours identified are amyloidogenic pituitary adenoma, central neurocytoma, glioneuronal tumour with

  5. Outbreak of uncommon O4 non-agglutinating Salmonella typhimurium linked to minced pork, Saxony-Anhalt, Germany, January to April 2013.

    Science.gov (United States)

    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

  6. Somatic Dysfunction in the Diagnosis of Uncommon Ectopic Pregnancies: Surgical Correlation and Comparison With Related Pathologic Findings.

    Science.gov (United States)

    Martingano, Daniel; Canepa, Hannah; Fararooy, Setareh; Rybitskiy, Dmitriy; Shahem, Sam; Martingano, Francis X; Aglialoro, George

    2017-02-01

    Ectopic pregnancies occur when the implantation of a fertilized ovum occurs outside the endometrial cavity. Such pregnancies occur in approximately 1.5% to 2.0% of all pregnancies and cause 6% of maternal deaths. To evaluate osteopathic structural examination (OSE) findings in patients with ectopic pregnancies of uncommon locations and to establish the utility of these findings in the diagnosis of these ectopic pregnancies. In this prospective case series, a focused OSE was performed on each patient with an ectopic pregnancy at her initial presentation after the patient history but before other diagnostic or laboratory tests were performed and surgical treatment was initiated. Chapman reflex points (CRPs) were evaluated pre- and postoperatively. For comparison, patients who had otherwise normal first pregnancies, underwent elective postpartum bilateral tubal ligation, or had simple ovarian cysts were also included and received OSEs. Seven cases with ectopic pregnancies outside the fallopian tube were included. Two primary ovarian pregnancies and 1 heterotopic pregnancy (uterine and ovarian) had somatic dysfunction at the T10-T11 spinal levels and CRPs posterior for the ovary, 1 primary omental pregnancy with somatic dysfunction at the T9-T12 spinal levels and CRPs anterior and posterior for the ileum and jejunum, and 1 tubal pregnancy with somatic dysfunction at the T10-L1 spinal levels and CRPs anterior and posterior for the fallopian tube. Two cornual ectopic pregnancies were not associated with unique findings. These somatic dysfunctions and CRP findings appear to be distinct from those of comparison cases, including first pregnancies at any trimester, simple ovarian cysts, and elective bilateral tubal ligation. The OSE findings demonstrated in these cases aided in the final diagnosis and thus can potentially prove helpful in cases of ovarian, tubal, and omental pregnancies to provide clues to abnormal ectopic pregnancy locations where diagnostic imaging results

  7. Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe.

    Directory of Open Access Journals (Sweden)

    Anna Olivieri

    Full Text Available 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.

  8. Radiologically isolated syndrome: an uncommon finding at a university clinic in a high-prevalence region for multiple sclerosis

    Science.gov (United States)

    Granberg, Tobias; Martola, Juha; Aspelin, Peter; Kristoffersen-Wiberg, Maria; Fredrikson, Sten

    2013-01-01

    Objective The improved availability of MRI in medicine has led to an increase in incidental findings. Unexpected brain MRI findings suggestive of multiple sclerosis (MS) without typical symptoms of MS were recently defined as radiologically isolated syndrome (RIS). The prevalence of RIS is uncertain. The aim of this study was to determine the prevalence of RIS at a university hospital in a region with a high prevalence for MS and describe the long-term prognosis of the identified patients. Design Retrospective cohort study conducted in 2012. Setting All brain MRI examinations performed at Karolinska University Hospital in Huddinge, Stockholm, Sweden during 2001 were retrospectively screened by a single rater for findings fulfilling the Okuda criteria. The sample year was chosen in order to establish the long-term prognosis of the patients identified. The examinations of interest were re-evaluated according to the Barkhof criteria by a neuroradiologist with long experience in MS. Participants In total 2105 individuals were included in the study. Ages ranged from 0 to 90 years with a median age of 48 years. Only one patient with RIS was identified, equivalent to a prevalence of 0.05% in the studied population, or 0.15% among patients aged 15–40 years. The patient with RIS developed symptoms consistent with MS within 3 months accompanied with radiological progression and was diagnosed with MS. Conclusions RIS, according to present criteria, is an uncommon finding in a tertiary hospital setting in a high-prevalence region for MS where awareness and clinical suspicion of MS is common. In order to study the prognosis of RIS, multicentre studies, or case–control studies are recommended. PMID:24189079

  9. Genomic characterization of uncommon human G3P[6] rotavirus strains causing diarrhea in children in Italy in 2009.

    Science.gov (United States)

    Ianiro, Giovanni; Delogu, Roberto; Fiore, Lucia; Ruggeri, Franco M

    2015-07-01

    Group A rotaviruses (RVA) are the leading cause of acute gastroenteritis in young children, causing up to 450,000 deaths worldwide, mostly in developing countries. Most of RVA human infections in developed countries are related to five major G/P combinations: G1P[8], G2P[4], G3P[8], G4P[8] and G9P[8]. During the surveillance activity of RotaNet-Italy, three uncommon G3P[6] RVA strains, designated as RVA/Human-wt/ITA/NA01/2009/G3P[6], RVA/Human-wt/ITA/NA06/2009/G3P[6], and RVA/Human-wt/ITA/NA19/2009/G3P[6], were identified in the stools of children with diarrhea hospitalized in Southern Italy in 2009. Samples NA01, NA06 and NA19 were characterized as genotype G3P[6]. To investigate the three strains further, partial sequencing of the eleven genomic segments was performed. RVA strains NA01, NA06 and NA19 were found to share the rare genotype constellation: G3-P[6]-I2-R2-C2-M2-A2-N2-T2-E2-H2, which had not been reported previously in continental Italy. The phylogenetic analysis of the eleven genomic segments showed no evidence of zoonosis or inter-species reassortment at the origin of the Italian G3P[6] strains, indicating that they possessed DS-1-like genomic constellations similar to those detected previously in human cases in Africa and Europe. The analysis of the hypervariable regions of VP7 and VP4 (VP8*) revealed high amino acid identity between the Italian G3P[6] RVA strains involved in this study. Copyright © 2015 Elsevier B.V. All rights reserved.

  10. An Uncommon ST1224 NDM-1-Producing Klebsiella pneumoniae Isolated from the Bloodstream of a Leukemia Patient in China.

    Science.gov (United States)

    Zhang, Xiaoxiao; Du, Jia; Zhou, Cui; Cao, Jianming; Lu, Hong; Liu, Haiyang; Bi, Wenzi; Zhou, Tieli

    2017-01-01

    This study aimed to analyze the clinical data and characteristics of an NDM-1 (New Delhi metallo-β-lactamase-1)-producing Klebsiella pneumoniae isolated from the bloodstream of a leukemia patient. A retrospective analysis was used for the clinical data of the patient. The modified Hodge test (MHT) and ethylenediaminetetraacetic acid (EDTA)-disk synergy test were used for detecting metallo-β-lactamase. Antibiotic resistance was determined using the agar dilution method. PCR was used to identify resistance genes. S1-PFGE (S1 nuclease/pulsed-field gel electrophoresis) and Southern blot hybridization were performed to determine the location of blaNDM-1. A conjugation experiment was used to confirm the transferable characteristics of the resistant genes. Multilocus sequence typing (MLST) was also performed. The patient developed bloodstream infections caused by this NDM-1-producing strain and died due to worsening of the condition. The strain was highly resistant to β-lactam antibiotics and coharbored blaNDM-1, qnrB, and blaCTX-M-9 genes. Southern blot confirmed that blaNDM-1 was located on a plasmid of approximately 55 kb and could be transferred to Escherichia coli J53. MLST analysis showed that this strain belonged to an uncommon sequence type ST1224. The coexistence of various resistant genes is the mechanism for resistance to most antibiotics. Additionally, infections caused by multi-drug resistant bacteria increase the mortality of patients with immunodeficiency, which alerts clinicians to establish a rational and effective combination drug therapy. © 2017 S. Karger AG, Basel.

  11. Coeliac disease and infertility: making the connection and achieving a successful pregnancy.

    Science.gov (United States)

    Hin, Harold; Ford, Fiona

    2002-01-01

    Undiagnosed coeliac disease is not uncommon in adults in the UK and can be a cause of unexplained infertility in women. Studies suggest that dietary treatment of women with coeliac disease may result in successful conception. The diet of a woman with coeliac disease during pregnancy is discussed and agencies offering support are listed.

  12. Multifocal osseous involvement as the sole manifestation of Rosai-Dorfman disease

    Energy Technology Data Exchange (ETDEWEB)

    Sundaram, C.; Shantveer, G. Uppin [Nizam' s Institute of Medical Sciences, Department of Pathology, Hyderabad (India); Chandrashekar, P.; Prasad, V.B.N. [Nizam' s Institute of Medical Sciences, Department of Orthopaedics, Hyderabad (India); Umadevi, M. [Nizam' s Institute of Medical Sciences, Department of Radiology and Imageology, Hyderabad (India)

    2005-10-01

    Rosai-Dorfman disease may involve extranodal sites exclusively. Osseous involvement as the sole manifestation of disease is uncommon. The present report describes a 60-year-old woman presenting with lytic lesions in the lower end of femur and mid-fibula on one side and unaccompanied by disease elsewhere. (orig.)

  13. Management of renal disease in pregnancy.

    Science.gov (United States)

    Podymow, Tiina; August, Phyllis; Akbari, Ayub

    2010-06-01

    Although renal disease in pregnancy is uncommon, it poses considerable risk to maternal and fetal health. This article discusses renal physiology and assessment of renal function in pregnancy and the effect of pregnancy on renal disease in patients with diabetes, lupus, chronic glomerulonephritis, polycystic kidney disease, and chronic pyelonephritis. Renal diseases occasionally present for the first time in pregnancy, and diagnoses of glomerulonephritis, acute tubular necrosis, hemolytic uremic syndrome, and acute fatty liver of pregnancy are described. Finally, therapy of end-stage renal disease in pregnancy, dialysis, and renal transplantation are reviewed. Copyright 2010 Elsevier Inc. All rights reserved.

  14. Multiple cystic lung disease.

    Science.gov (United States)

    Ferreira Francisco, Flavia Angélica; Soares Souza, Arthur; Zanetti, Gláucia; Marchiori, Edson

    2015-12-01

    Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy. The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt-Hogg-Dubé); other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed. Disease progression is unpredictable, and understanding of the complications of cystic lung disease and their appearance during evolution of the disease are essential for management. Correlation of disease evolution and clinical context with chest imaging findings provides important clues for defining the underlying nature of cystic lung disease, and guides diagnostic evaluation and management. Copyright ©ERS 2015.

  15. Polycystic Kidney Disease In Pregnancy In A Nigerian Woman ...

    African Journals Online (AJOL)

    Adult Polycystic Kidney disease (ADPKD) is a known but uncommon cause of haematuria in pregnancy in this environment. Other causes include, haemaglobinopathies, calculi, pyelonephritis, schistosomiasis, haemangiomata and neoplasms. Although ADPKD is the commonest single gene disorder of man affecting both ...

  16. Childhood acquired heart disease in Nigeria: an echocardiographic ...

    African Journals Online (AJOL)

    Introduction: Acquired heart diseases (AHD) are not uncommon in children. The current multi-center study aims to provide a more representative data of AHD in Nigeria. Methods: Over 42 months, children referred for echocardiographic evaluation who had confirmed AHD in three centers in Nigeria were recruited. The data ...

  17. Carcinoid heart disease secondary to ovarian tumour: a logical ...

    African Journals Online (AJOL)

    2013-03-13

    Mar 13, 2013 ... Carcinoid heart disease secondary to ovarian tumours is uncommon. The ovarian carcinoids do not have metastasis in the liver unlike gastrointestinal tumours. Hence the management priorities need to be different. We present a case in which removal of the primary tumour before heart surgery resulted in a ...

  18. Amyand's hernia masquerading inguinal abscess complicated with appendico-cutaeneous fistula in an infant with Hirschsprung's disease

    Directory of Open Access Journals (Sweden)

    Ruzaimie Noor

    2017-06-01

    Full Text Available A normal or diseased vermiform appendix located inside the inguinal hernia is called Amyand's hernia (AH. The incidence of appendicitis in Amyand's hernia is rare. The appendicitis per se is uncommon disease in infancy. We reported an extremely rare case of undiagnosed right Amyand's hernia mimicking inguinal abscess complicated with appendico-cutaneous fistula in total colonic Hirschsprung's Disease.

  19. 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?

    Science.gov (United States)

    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.

  20. Uncommon presentation of cryptogenic organizing pneumonia with miliary pattern in the thorax; Ungewoehnliche Manifestation einer kryptogen organisierenden Pneumonie mit miliarem Verschattungsmuster im Thorax

    Energy Technology Data Exchange (ETDEWEB)

    Langen, H.J.; Biewener, C. [Missionsaerztliche Klinik, Radiologische Abteilung, Wuerzburg (Germany); Ruediger, T. [Universitaet Wuerzburg, Pathologisches Institut, Wuerzburg (Germany); Jany, B. [Missionsaerztliche Klinik, Abteilung fuer Innere Medizin, Wuerzburg (Germany)

    2008-03-15

    A 28-year-old female with worsening dyspnea showed miliary nodules of 2 mm in diameter on chest X-ray and high-resolution CT (HRCT). Histological evaluation and clinical outcome revealed an uncommon presentation of cryptogenic organizing pneumonia. (orig.) [German] Bei einer 28-jaehrigen Patientin mit zunehmender Dyspnoe wurden auf der Thoraxroentgenaufnahme und in der hochaufloesenden CT (HRCT) homogen verteilte monomorphe miliare Fleckschatten von ca. 2 mm Durchmesser nachgewiesen. Die histologische Sicherung und der klinische Verlauf ergaben eine kryptogen organisierende Pneumonie, die sich bildmorphologisch ungewoehnlicherweise nur mit miliaren Knoetchen manifestierte. (orig.)

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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...

  3. Severe iron deficiency anaemia in a 37-year-old with HBSC disease ...

    African Journals Online (AJOL)

    Background: Iron deficiency anaemia (IDA) is not a recognised complication of sickle cell disease; it is uncommon in an adult patients. However, it could occur in children with the disease on the background of a significant nutritional deficiency. Method: Clinical note of the patient was retrieved for relevant information.

  4. Elevated blood lipids are uncommon in patients with post-polio syndrome--a cross sectional study.

    Science.gov (United States)

    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

  5. Coexistence of granulomatosis with polyangiitis (GPA) and Crohn's disease or multiorgan manifestation of the same disease?

    Science.gov (United States)

    Jóźwiak, Lucyna; Ławnicka, Izabela; Książek, Andrzej

    2016-01-01

    Granulomatosis with polyangiitis (GPA) is a systemic necrotizing vasculitis of unknown aetiology, often related to the antineutrophil cytoplasmic antibody (ANCA). GPA was previously named Wegener's granulomatosis (WG). The disease frequently has multisystemic presentation, targeting mainly the respiratory tract and kidneys, but gastrointestinal involvement is uncommon. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with many extraintestinal manifestations. Clinically, symptoms of WG and CD can mimic each other. In this paper a case of GPA manifested initially by severe multiorgan damage including colitis, regarded to be coexistent CD, is presented. The case illustrates the difficulties in establishing the diagnosis when symptoms of the diseases mimic each other.

  6. Melanized Fungi in Human Disease

    Science.gov (United States)

    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

  7. Intestinal tuberculosis sometimes mimics Crohn's disease.

    Directory of Open Access Journals (Sweden)

    Esfandiar Shojaei

    2013-11-01

    Full Text Available Intestinal tuberculosis is an uncommon presentation of tuberculosis (TB and has clinicopathological similarities with Crohn's disease. In regions where TB is endemic clinicians must aware of this condition and fully evaluate their patients when Crohn's disease is diagnosed. We recommend all pathologic specimens be evaluate effectively for TB.Smear,culture and PCR for Mycobacterium.tuberculosis from samples aside the pathological reviews help for better diagnosis. Here we present a case of intestinal tuberculosis which initially diagnosed as Crohn's disease but after starting immunosuppressive agents he presented with disseminated tuberculosis.

  8. Minimally symptomatic hypocalcaemia unmasking celiac disease.

    Science.gov (United States)

    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.

  9. Paediatric cyclical Cushing's disease due to corticotroph cell hyperplasia.

    LENUS (Irish Health Repository)

    Noctor, E

    2015-06-01

    Cushing\\'s disease is very rare in the paediatric population. Although uncommon, corticotroph hyperplasia causing Cushing\\'s syndrome has been described in the adult population, but appears to be extremely rare in children. Likewise, cyclical cortisol hypersecretion, while accounting for 15 % of adult cases of Cushing\\'s disease, has only rarely been described in the paediatric population. Here, we describe a very rare case of a 13-year old boy with cyclical cortisol hypersecretion secondary to corticotroph cell hyperplasia.

  10. Derrame pleural incomum: metástase pleuropulmonar de tumor neuroectodérmico primitivo Uncommon pleural effusion: pleuropulmonary metastasis from primitive neuroectodermal tumor

    Directory of Open Access Journals (Sweden)

    Leila Antonangelo

    2009-06-01

    Full Text Available O tumor neuroectodérmico primitivo é uma neoplasia com diferenciação neural de comportamento invasivo que origina metástases para diversos órgãos. Relatamos um caso de tumor neuroectodérmico primitivo primário em axila com metástases para pulmão, pleura, osso, músculo ilíaco e medula óssea. Enfatizamos o achado incomum da análise citológica do líquido pleural.Primitive neuroectodermal tumor is an invasive neoplasm with neuronal differentiation, which frequently results in metastasis in various organs. We report the case of a patient with primitive neuroectodermal tumor whose primary site was the axilla. The patient presented with metastases in the lung, pleura, bone, iliac muscle and bone marrow. We highlight the uncommon finding in the pleural fluid cytology.

  11. Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.

    Science.gov (United States)

    Jaiswal, Pooja; Yadav, Yogesh Kumar; Bhasker, Nilam; Kushwaha, Rashmi

    2015-12-01

    Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Hence this interesting case of a four-month-old Indian child born to consanguineous parents in accelerated phase at initial presentation is described. The boy presented with fever, hepatosplenomegaly, and cleft lip. Clinical diagnosis was leukemia or a lysosomal storage disorder. Cytopaenias, lymphohistiocytic infiltration in bone marrow, and the characteristic large granules in leucocytes helped in the diagnosis, emphasizing the importance of bone marrow in diagnosis of unusual presentation of this rare disorder.

  12. Key Impact of an Uncommon Plasmid on Bacillus amyloliquefaciens subsp. plantarum S499 Developmental Traits and Lipopeptide Production.

    Science.gov (United States)

    Molinatto, Giulia; Franzil, Laurent; Steels, Sébastien; Puopolo, Gerardo; Pertot, Ilaria; Ongena, Marc

    2017-01-01

    The rhizobacterium Bacillus amyloliquefaciens subsp. plantarum S499 (S499) is particularly efficient in terms of the production of cyclic lipopeptides, which are responsible for the high level of plant disease protection provided by this strain. Sequencing of the S499 genome has highlighted genetic differences and similarities with the closely related rhizobacterium B. amyloliquefaciens subsp. plantarum FZB42 (FZB42). More specifically, a rare 8008 bp plasmid (pS499) harboring a rap-phr cassette constitutes a major distinctive element between S499 and FZB42. By curing this plasmid, we demonstrated that its presence is crucial for preserving the typical physiology of S499 cells. Indeed, the growth rate and extracellular proteolytic activity were significantly affected in the cured strain (S499 P(-)). Furthermore, pS499 made a significant contribution to the regulation of cyclic lipopeptide production. Surfactins and fengycins were produced in higher quantities by S499 P(-), whereas lower amounts of iturins were detected. In line with the increase in surfactin release, bacterial motility improved after curing, whereas the ability to form biofilm was reduced in vitro. The antagonistic effect against phytopathogenic fungi was also limited for S499 P(-), most probably due to the reduction of iturin production. With the exception of this last aspect, S499 P(-) behavior fell between that of S499 and FZB42, suggesting a role for the plasmid in shaping some of the phenotypic differences observed in the two strains.

  13. Human adenovirus type 8 epidemic keratoconjunctivitis with large corneal epithelial full-layer detachment: an endemic outbreak with uncommon manifestations

    Directory of Open Access Journals (Sweden)

    Lee YC

    2015-05-01

    Full Text Available Yueh-Chang Lee,1 Nancy Chen,1 I-Tsong Huang,2–4 Hui-Hua Yang,2 Chin-Te Huang,1 Li-Kuang Chen,2–5 Min-Muh Sheu1,6,7 1Department of Ophthalmology, 2Taiwan CDC Collaborating Laboratories of Virology, 3Department of Laboratory Medicine, Buddhist Tzu-Chi General Hospital, Hualien, Taiwan; 4Graduate Institute of Medical Sciences, 5Department of Laboratory Diagnosis, 6Department of Ophthalmology and Visual Science, Tzu-Chi University, Hualien, Taiwan; 7Department of Ophthalmology, Mennonite Christian Hospital, Hualien, Taiwan Abstract: Epidemic viral conjunctivitis is a highly contagious disease that is encountered year-round. The causative agents are mainly adenoviruses and enteroviruses. It occurs most commonly upon infection with subgroup D adenoviruses of types 8, 19, or 37. For common corneal involvement of human adenovirus type 8 epidemic keratoconjunctivitis, full-layer epithelial detachment is rarely seen. Herein, we report three cases of epidemic keratoconjunctivitis during an outbreak which manifested as large corneal epithelial full-layer detachment within a few days. The lesions healed without severe sequelae under proper treatment. The unique manifestation of this outbreak may indicate the evolution of human adenovirus type 8. Keywords: EKC, HAdV-8, cornea, virology, epidemic viral conjunctivitis

  14. Francisella philomiragia Bacteremia in a Patient with Acute Respiratory Insufficiency and Acute-on-Chronic Kidney Disease.

    Science.gov (United States)

    Relich, Ryan F; Humphries, Romney M; Mattison, H Reid; Miles, Jessica E; Simpson, Edward R; Corbett, Ian J; Schmitt, Bryan H; May, M

    2015-12-01

    Francisella philomiragia is a very uncommon pathogen of humans. Diseases caused by it are protean and have been reported largely in near-drowning victims and those with chronic granulomatous disease. We present a case of F. philomiragia pneumonia with peripheral edema and bacteremia in a renal transplant patient and review the diverse reports of F. philomiragia infections.

  15. Sexually transmitted diseases in children in India

    Directory of Open Access Journals (Sweden)

    Dhawan Jyoti

    2010-01-01

    Full Text Available Sexually transmitted diseases (STDs in children are not uncommon in India, though systematic epidemiological studies to determine the exact prevalence are not available. STDs in children can be acquired via sexual route or, uncommonly, via non-sexual route such as accidental inoculation by a diseased individual. Neonatal infections are almost always acquired intrauterine or during delivery. Voluntary indulgence in sexual activity is also an important factor in acquisition of STDs in childhood. Sexual abuse and sex trafficking remain the important problems in India. Surveys indicate that nearly half of the children are sexually abused. Most at risk children are street-based, homeless or those living in or near brothels. Last two decades have shown an increase in the prevalence of STDs in children, though most of the data is from northern part of the country and from major hospitals. However, due to better availability of antenatal care to majority of women, cases of congenital syphilis have declined consistently over the past two-three decades. Other bacterial STDs are also on decline. On the other hand, viral STDs such as genital herpes and anogenital warts are increasing. This reflects trends of STDs in the adult population. Concomitant HIV infection is uncommon in children. Comprehensive sex education, stringent laws to prevent sex trafficking and child sexual abuse, and antenatal screening of all the women can reduce the prevalence of STDs in children.

  16. Immunologically mediated oral diseases

    Directory of Open Access Journals (Sweden)

    Sudha Jimson

    2015-01-01

    Full Text Available Immune mediated diseases of oral cavity are uncommon. The lesions may be self-limiting and undergo remission spontaneously. Among the immune mediated oral lesions the most important are lichen planus, pemphigus, erythema multiformi, epidermolysis bullosa, systemic lupus erythematosis. Cellular and humoral mediated immunity play a major role directed against epithelial and connective tissue in chronic and recurrent patterns. Confirmatory diagnosis can be made by biopsy, direct and indirect immunoflouresence, immune precipitation and immunoblotting. Therapeutic agents should be selected after thorough evaluation of immune status through a variety of tests and after determining any aggravating or provoking factors. Early and appropriate diagnosis is important for proper treatment planning contributing to better prognosis and better quality of life of patient.

  17. Discrepancy in MALDI-TOF MS identification of uncommon Gram-negative bacteria from lower respiratory secretions in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    AbdulWahab A

    2015-04-01

    Full Text Available Atqah AbdulWahab,1,2 Saad J Taj-Aldeen,3 Emad Bashir Ibrahim,3 Eman Talaq,4 Marawan Abu-Madi,4 Rashmi Fotedar5 1Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar; 2Department of Pediatrics, Weill Cornell Medical College, Doha, Qatar; 3Microbiology Division, Department of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha, Qatar; 4Department of Health Sciences, College of Arts and Sciences, Qatar University, Doha, Qatar; 5Biotechnology Center, Ministry of Environment, Doha, Qatar Introduction: Early identification of microbial organisms from respiratory secretions of patients with cystic fibrosis (CF is important to guide therapeutic decisions. The objective was to compare the accuracy of matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS relative to the conventional phenotypic method in identifying common bacterial isolates, including nonfermenting Gram-negative bacteria, in a cohort of patients with CF. Methods: A total of 123 isolates from 50 patients with CF representing 14 bacterial species from respiratory specimens were identified using MALDI-TOF MS in parallel with conventional phenotypic methods. Discrepancies were confirmed by 16S ribosomal RNA (rRNA gene sequencing in five Gram-negative isolates. Results: The MALDI-TOF MS managed to identify 122/123 (99.2% bacterial isolates to the genus level and 118/123 (95.9% were identified to the species level. The MALDI-TOF MS results were 100% consistent to the species level with conventional phenotypic identification for isolates of Staphylococcus aureus, Pseudomonas aeruginosa, Haemophilus influenzae, Streptococcus pyogenes, Achromobacter xylosoxidans, Stenotrophomonas maltophilia, and other uncommon organisms such as Chryseobacterium gleum and Enterobacter cloacae. The 5/123 (4.6% isolates misidentified were all Gram-negative bacteria. The isolation of E. cloacae and Haemophilus paraphrohaemolyticus may extend the

  18. Large-scale gene-centric analysis identifies novel variants for coronary artery disease

    NARCIS (Netherlands)

    Butterworth, Adam S.; Braund, Peter S.; Farrall, Martin; Hardwick, Robert J.; Saleheen, Danish; Peden, John F.; Soranzo, Nicole; Chambers, John C.; Sivapalaratnam, Suthesh; Kleber, Marcus E.; Keating, Brendan; Qasim, Atif; Klopp, Norman; Erdmann, Jeanette; Assimes, Themistocles L.; Ball, Stephen G.; Balmforth, Anthony J.; Barnes, Timothy A.; Basart, Hanneke; Baumert, Jens; Bezzina, Connie R.; Boerwinkle, Eric; Boehm, Bernhard O.; Brocheton, Jessy; Bugert, Peter; Cambien, Francois; Clarke, Robert; Codd, Veryan; Collins, Rory; Couper, David; Cupples, L. Adrienne; de Jong, Jonas S.; Diemert, Patrick; Ejebe, Kenechi; Elbers, Clara C.; Elliott, Paul; Fornage, Myriam; Franzosi, Maria-Grazia; Frossard, Philippe; Garner, Stephen; Goel, Anuj; Goodall, Alison H.; Hengstenberg, Christian; Hunt, Sarah E.; Kastelein, John J. P.; Klungel, Olaf H.; Klüter, Harald; Koch, Kerstin; König, Inke R.; Kooner, Angad S.; Laaksonen, Reijo; Lathrop, Mark; Li, Mingyao; Liu, Kiang; McPherson, Ruth; Musameh, Muntaser D.; Musani, Solomon; Nelson, Christopher P.; O'Donnell, Christopher J.; Ongen, Halit; Papanicolaou, George; Peters, Annette; Peters, Bas J. M.; Potter, Simon; Psaty, Bruce M.; Qu, Liming; Rader, Daniel J.; Rasheed, Asif; Rice, Catherine; Scott, James; Seedorf, Udo; Sehmi, Joban S.; Sotoodehnia, Nona; Stark, Klaus; Stephens, Jonathan; van der Schoot, C. Ellen; van der Schouw, Yvonne T.; Thorsteinsdottir, Unnur; Tomaszewski, Maciej; van der Harst, Pim; Vasan, Ramachandran S.; Wilde, Arthur A. M.; Willenborg, Christina; Winkelmann, Bernhard R.; Zaidi, Moazzam; Zhang, Weihua; Ziegler, Andreas; de Bakker, Paul I. W.; Koenig, Wolfgang; Mätz, Winfried; Trip, Mieke D.; Reilly, Muredach P.; Kathiresan, Sekar; Schunkert, Heribert; Hamsten, Anders; Hall, Alistair S.; Kooner, Jaspal S.; Thompson, Simon G.; Thompson, John R.; Deloukas, Panos; Ouwehand, Willem H.; Watkins, Hugh; Danesh, John; Samani, Nilesh J.; Barnes, Timothy; Rafelt, Suzanne; Bruinsma, Nienke; Dekker, Lukas R.; Henriques, José P.; Koch, Karel T.; de Winter, Robbert J.; Alings, Marco; Allaart, Cor F.; Gorgels, Anton P.; Verheugt, Freek W.; Mueller, Martina; Meisinger, Christa; DerOhannessian, Stephanie; Mehta, Nehal N.; Ferguson, Jane; Hakonarson, Hakon; Matthai, William; Wilensky, Robert; Hopewell, J. C.; Parish, S.; Linksted, P.; Notman, J.; Gonzalez, H.; Young, A.; Ostley, T.; Munday, A.; Goodwin, N.; Verdon, V.; Shah, S.; Cobb, L.; Edwards, C.; Mathews, C.; Gunter, R.; Benham, J.; Davies, C.; Cobb, M.; Crowther, J.; Richards, A.; Silver, M.; Tochlin, S.; Mozley, S.; Clark, S.; Radley, M.; Kourellias, K.; Silveira, Angela; Söderholm, Birgitta; Olsson, Per; Barlera, Simona; Tognoni, Gianni; Rust, Stephan; Assmann, Gerd; Heath, Simon; Zelenika, Diana; Gut, Ivo; Green, Fiona; Peden, John; Aly, Anette; Anner, Karolina; Björklund, Karin; Blomgren, Gun; Cederschiöld, Barbro; Danell-Toverud, Karin; Eriksson, Per; Grundstedt, Ulla; Heinonen, Merja; Hellénius, Mai-Lis; van't Hooft, Ferdinand; Husman, Karin; Lagercrantz, Jacob; Larsson, Anita; Larsson, Malin; Mossfeldt, Magnus; Mälarstig, Anders; Olsson, Gunnar; Sabater-Lleal, Maria; Sennblad, Bengt; Strawbridge, Rona; Öhrvik, John; Zaman, Khan Shah; Mallick, Nadeem Hayat; Azhar, Muhammad; Samad, Abdus; Ishaq, Mohammad; Shah, Nabi; Samuel, Maria; Reilly, Muredach; Holm, Hilma; Preuss, Michael; Stewart, Alexandre F. R.; Barbalic, Maja; Gieger, Christian; Absher, Devin; Aherrahrou, Zouhair; Allayee, Hooman; Altshuler, David; Anand, Sonia; Andersen, Karl; Anderson, Jeffrey L.; Ardissino, Diego; Becker, Lewis C.; Becker, Diane M.; Berger, Klaus; Bis, Joshua C.; Boekholdt, S. Matthijs; Brown, Morris J.; Burnett, Mary Susan; Buysschaert, Ian; Carlquist, John F.; Chen, Li; Davies, Robert W.; Dedoussis, George; Dehghan, Abbas; Demissie, Serkalem; Devaney, Joseph; Do, Ron; Doering, Angela; El Mokhtari, Nour Eddine; Ellis, Stephen G.; Elosua, Roberto; Engert, James C.; Epstein, Stephen; de Faire, Ulf; Fischer, Marcus; Folsom, Aaron R.; Freyer, Jennifer; Gigante, Bruna; Girelli, Domenico; Gretarsdottir, Solveig; Gudnason, Vilmundur; Gulcher, Jeffrey R.; Tennstedt, Stephanie; Halperin, Eran; Hammond, Naomi; Hazen, Stanley L.; Hofman, Albert; Horne, Benjamin D.; Illig, Thomas; Iribarren, Carlos; Jones, Gregory T.; Jukema, J. Wouter; Kaiser, Michael A.; Kaplan, Lee M.; Khaw, Kay-Tee; Knowles, Joshua W.; Kolovou, Genovefa; Kong, Augustine; Lambrechts, Diether; Leander, Karin; Lieb, Wolfgang; Lettre, Guillaume; Loley, Christina; Lotery, Andrew J.; Mannucci, Pier M.; Maouche, Seraya; Martinelli, Nicola; McKeown, Pascale P.; Meitinger, Thomas; Melander, Olle; Merlini, Pier Angelica; Mooser, Vincent; Morgan, Thomas; Mühleisen, Thomas W.; Muhlestein, Joseph B.; Musunuru, Kiran; Nahrstaedt, Janja; Nöthen, Markus M.; Olivieri, Oliviero; Peyvandi, Flora; Patel, Riyaz S.; Patterson, Chris C.; Quyyumi, Arshed A.; Rallidis, Loukianos S.; Roosendaal, Frits R.; Rubin, Diana; Salomaa, Veikko; Sampietro, M. Lourdes; Sandhu, Manj S.; Schadt, Eric; Schäfer, Arne; Schillert, Arne; Schreiber, Stefan; Schrezenmeir, Jürgen; Schwartz, Stephen M.; Siscovick, David S.; Sivananthan, Mohan; Smith, Albert V.; Smith, Tamara B.; Snoep, Jaapjan D.; Spertus, John A.; Stefansson, Kari; Stirrups, Kathy; Stoll, Monika; Tang, W. H. Wilson; Thorgeirsson, Gudmundur; Thorleifsson, Gudmar; Uitterlinden, Andre G.; van Rij, Andre M.; Voight, Benjamin F.; Wareham, Nick J.; AWells, George; Wichmann, H.-Erich; Witteman, Jaqueline C. M.; Wright, Benjamin J.; Ye, Shu; Quertermous, Thomas; März, Winfried; Blankenberg, Stefan; Roberts, Robert; Onland-Moret, N. Charlotte; van Setten, Jessica; Verschuren, W. M. Monique; Boer, Jolanda M. A.; Wijmenga, Cisca; Hofker, Marten H.; Maitland-van der Zee, Anke-Hilse; de Boer, Anthonius; Grobbee, Diederick E.; Attwood, Tony; Belz, Stephanie; Braund, Peter; Cambien, François; Cooper, Jason; Crisp-Hihn, Abi; Foad, Nicola; Gracey, Jay; Gray, Emma; Gwilliams, Rhian; Heimerl, Susanne; Jolley, Jennifer; Krishnan, Unni; Lloyd-Jones, Heather; Lugauer, Ingrid; Lundmark, Per; Moore, Jasbir S.; Muir, David; Murray, Elizabeth; Nelson, Chris P.; Neudert, Jessica; Niblett, David; O'Leary, Karen; Pollard, Helen; Rankin, Angela; Rice, Catherine M.; Sager, Hendrik; Sambrook, Jennifer; Schmitz, Gerd; Scholz, Michael; Schroeder, Laura; Syvannen, Ann-Christine; Wallace, Chris

    2011-01-01

    Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants.

  19. Rosai-Dorfman Disease: A Diagnostic Albatross in a Female Patient ...

    African Journals Online (AJOL)

    Extranodal diseases are uncommon but have been documented. Due to the rarity of this condition, the diagnosis may not be suspected clinically and fine needle aspiration cytology of neck nodes may miss the diagnosis. In this study, we present a 24 year old female who presented with bilateral cervical lymphadenopathy ...

  20. Left atrial myxoma, ruptured chordae tendinae causing mitral regurgitation and coronary artery disease

    Directory of Open Access Journals (Sweden)

    Bhupesh Kumar

    2014-01-01

    Full Text Available Mitral regurgitation is uncommon with left atrial myxoma. The echocardiographic assessment of presence of mitral regurgitation and its severity are impaired by the presence of left atrial myxoma. We describe an uncommon association of left atrial myxoma with coronary artery disease and mitral regurgitation. MR was reported as mild on pre-operative transthoracic echocardiography but found to be severe due to ruptured chordae tendinae during intra-operative transesophageal echocardiography, which lead to change in the surgical plan to mitral valve replacement in addition to excision of myxoma.

  1. Left atrial myxoma, ruptured chordae tendinae causing mitral regurgitation and coronary artery disease.

    Science.gov (United States)

    Kumar, Bhupesh; Raj, Ravi; Jayant, Aveek; Kuthe, Sachin

    2014-01-01

    Mitral regurgitation is uncommon with left atrial myxoma. The echocardiographic assessment of presence of mitral regurgitation and its severity are impaired by the presence of left atrial myxoma. We describe an uncommon association of left atrial myxoma with coronary artery disease and mitral regurgitation. MR was reported as mild on pre-operative transthoracic echocardiography but found to be severe due to ruptured chordae tendinae during intra-operative transesophageal echocardiography, which lead to change in the surgical plan to mitral valve replacement in addition to excision of myxoma.

  2. [Pericarditis as initial presentation of disseminated meningococcal disease].

    Science.gov (United States)

    Mirón, Lorena; Neyro, Silvina; Cheistwer, Ariel; Muracciole, Beatriz; Ortellao, Graciela; Martínez Iriart, Emilio

    2013-12-01

    Pericarditis is a well-recognized but uncommon complication of meningococcal infection. The incidence of pericarditis complicating meningococcal disease in all age groups is reported to be 3-19%. There are few cases reported in the paediatric age group. Disseminated meningococcal disease with pericarditis, defined as purulent pericarditis with clinical evidence of disseminated meningococcemia and meningitis. We report the case of a 4-month-old male infant who presented disseminated meningococcal disease with pericarditis caused by Neisseria meningitidis serogroup B. The patient was treated with antibiotic with excellent response. It is important to point out that meningococcal disease may present in unusual forms which may lead to diagnostic and therapeutic difficulties.

  3. CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of Von Hippel.

    Science.gov (United States)

    Oliva-Biénzobas, Valeria; Navas, Alejandro; C Astiazarán, Mirena; Chacón-Camacho, Oscar Francisco; A Bermúdez-Magner, Jose; Takane, Mariana; Graue-Hernández, Enrique; Zenteno, Juan Carlos

    2017-10-01

    To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of anterior segment dysgenesis or congenital glaucoma. The newborn presented with diffuse corneal edema and bilaterally elevated intraocular pressure (IOP). Ophthalmological examination, ultrasound, and ultrasound biomicroscopy were performed; congenital infections were ruled out. Genetic analysis was performed. The patient underwent penetrating keratoplasty and goniotomy in a single surgical time. The button was subjected to histopathological examination. The patient is the first child of young, healthy, consanguineous parents. Ophthalmological examination revealed visual acuity of light perception and increased IOP in both eyes. CYP1B1 gene analysis demonstrated homozygosity for a 1-bp deletion in exon 2 (c.830delT). IOP was normalized, and the corneal button was clear after surgical treatment. Histopathological analysis revealed loss of the Bowman membrane in the central cornea, fibrosis of the stroma, absence of endothelial cells, and loss of Descemet membrane centrally. We present an uncommon mutation and clinical description of CYP1B1. This report and further studies could provide us better understanding of the mutational spectrum of CYP1B1.

  4. Sea Anemone Peptide with Uncommon β-Hairpin Structure Inhibits Acid-sensing Ion Channel 3 (ASIC3) and Reveals Analgesic Activity*

    Science.gov (United States)

    Osmakov, Dmitry I.; Kozlov, Sergey A.; Andreev, Yaroslav A.; Koshelev, Sergey G.; Sanamyan, Nadezhda P.; Sanamyan, Karen E.; Dyachenko, Igor A.; Bondarenko, Dmitry A.; Murashev, Arkadii N.; Mineev, Konstantin S.; Arseniev, Alexander S.; Grishin, Eugene V.

    2013-01-01

    Three novel peptides were isolated from the venom of the sea anemone Urticina grebelnyi. All of them are 29 amino acid peptides cross-linked by two disulfide bridges, with a primary structure similar to other sea anemone peptides belonging to structural group 9a. The structure of the gene encoding the shared precursor protein of the identified peptides was determined. One peptide, π-AnmTX Ugr 9a-1 (short name Ugr 9-1), produced a reversible inhibition effect on both the transient and the sustained current of human ASIC3 channels expressed in Xenopus laevis oocytes. It completely blocked the transient component (IC50 10 ± 0.6 μm) and partially (48 ± 2%) inhibited the amplitude of the sustained component (IC50 1.44 ± 0.19 μm). Using in vivo tests in mice, Ugr 9-1 significantly reversed inflammatory and acid-induced pain. The other two novel peptides, AnmTX Ugr 9a-2 (Ugr 9-2) and AnmTX Ugr 9a-3 (Ugr 9-3), did not inhibit the ASIC3 current. NMR spectroscopy revealed that Ugr 9-1 has an uncommon spatial structure, stabilized by two S-S bridges, with three classical β-turns and twisted β-hairpin without interstrand disulfide bonds. This is a novel peptide spatial structure that we propose to name boundless β-hairpin. PMID:23801332

  5. Suboptimal maternal and cord plasma pyridoxal 5' phosphate concentrations are uncommon in a cohort of Canadian pregnant women and newborn infants.

    Science.gov (United States)

    Plumptre, Lesley; Masih, Shannon P; Sohn, Kyoung-Jin; Kim, Denise; Visentin, Carly E; Ly, Anna; Berger, Howard; Croxford, Ruth; O'Connor, Deborah L; Kim, Young-In

    2017-05-24

    Vitamin B6 is important in fetal development, but little is known of the vitamin B6 status of pregnant women and newborns in North America and potential modifying factors. This prospective study determined maternal and cord plasma concentrations of pyridoxal 5' phosphate (PLP; an indicator of vitamin B6 status) in a convenience sample of 368 Canadian pregnant women and their newborns. The association of maternal intake of vitamin B6 and fetal genetic variants with cord plasma PLP and homocysteine concentrations was also examined. Dietary and supplemental intakes of vitamin B6 were assessed in early and mid to late pregnancy. PLP concentrations were measured in maternal plasma in early pregnancy and at delivery, and in cord plasma. Six fetal variants of the MTHFR and CβS genes were assessed for their association with cord plasma PLP and homocysteine concentrations. Geometric mean (95% CI) PLP concentrations were 107 (98, 116) nmol/L in early pregnancy and 58 (53, 62) nmol/L at delivery, respectively, and 296 (275, 319) nmol/L in cord blood (p women had plasma PLP concentrations women with supplemental B6 intake of at least the recommended dietary allowance had PLP concentrations >20 nmol/L. Fetal genetic variants were not associated with cord PLP and homocysteine concentrations. Vitamin B6 deficiency is uncommon in a cohort of Canadian pregnant women due largely to prevalent vitamin B6 supplement use. © 2017 John Wiley & Sons Ltd.

  6. An uncommon presentation for a severe invasive infection due to methicillin-resistant Staphylococcus aureus clone USA300 in Italy: a case report

    Directory of Open Access Journals (Sweden)

    Tronci Mirella

    2008-04-01

    Full Text Available Abstract Background Methicillin resistant Staphylococcus aureus (MRSA has been considered for many years a typical nosocomial pathogen. Recently MRSA has emerged as a frequent cause of infections in the community. More commonly, community-acquired (CA-MRSA is a cause of infections of the skin and soft-tissues, but life-threatening infections such as necrotizing pneumonia and sepsis can occasionally occur. Case presentation This report describes an uncommon presentation of invasive CA-MRSA infection in an adolescent without known risk factors. The presentation was typical for bacterial meningitis, but the clinical findings also revealed necrotizing pneumonia. Following the development of deep venous thrombosis, the presence of an inherited trombophilic defect (factor V Leiden was detected. The patient was successfully treated with an antibiotic combination including linezolid and with anticoagulant therapy. CA-MRSA was isolated from both cerebrospinal fluid and blood. The isolates were resistant to oxacillin and other beta-lactam antibiotics and susceptible to the other antibiotics tested including erythromycin. Molecular typing revealed that the strains contained the Panton-Valentine leukocidin genes and type IV SCCmec, and were ST8, spa type t008, and agr type 1. This genetic background is identical to that of the USA300 clone. Conclusion This report highlights that meningitis can be a new serious presentation of CA-MRSA infection. CA-MRSA strains with the genetic background of the USA300 clone are circulating in Italy and are able to cause severe infections.

  7. An uncommon presentation for a severe invasive infection due to methicillin-resistant Staphylococcus aureus clone USA300 in Italy: a case report.

    Science.gov (United States)

    Valentini, Piero; Parisi, Gabriella; Monaco, Monica; Crea, Francesca; Spanu, Teresa; Ranno, Orazio; Tronci, Mirella; Pantosti, Annalisa

    2008-04-30

    Methicillin resistant Staphylococcus aureus (MRSA) has been considered for many years a typical nosocomial pathogen. Recently MRSA has emerged as a frequent cause of infections in the community. More commonly, community-acquired (CA)-MRSA is a cause of infections of the skin and soft-tissues, but life-threatening infections such as necrotizing pneumonia and sepsis can occasionally occur. This report describes an uncommon presentation of invasive CA-MRSA infection in an adolescent without known risk factors. The presentation was typical for bacterial meningitis, but the clinical findings also revealed necrotizing pneumonia. Following the development of deep venous thrombosis, the presence of an inherited thrombophilic defect (factor V Leiden) was detected. The patient was successfully treated with an antibiotic combination including linezolid and with anticoagulant therapy. CA-MRSA was isolated from both cerebrospinal fluid and blood. The isolates were resistant to oxacillin and other beta-lactam antibiotics and susceptible to the other antibiotics tested including erythromycin. Molecular typing revealed that the strains contained the Panton-Valentine leukocidin genes and type IV SCCmec, and were ST8, spa type t008, and agr type 1. This genetic background is identical to that of the USA300 clone. This report highlights that meningitis can be a new serious presentation of CA-MRSA infection. CA-MRSA strains with the genetic background of the USA300 clone are circulating in Italy and are able to cause severe infections.

  8. Evaluation of epidemiological cut-off values indicates that biocide resistant subpopulations are uncommon in natural isolates of clinically-relevant microorganisms.

    Directory of Open Access Journals (Sweden)

    Ian Morrissey

    Full Text Available To date there are no clear criteria to determine whether a microbe is susceptible to biocides or not. As a starting point for distinguishing between wild-type and resistant organisms, we set out to determine the minimal inhibitory concentration (MIC and minimal bactericidal concentration (MBC distributions for four common biocides; triclosan, benzalkonium chloride, chlorhexidine and sodium hypochlorite for 3319 clinical isolates, with a particular focus on Staphylococcus aureus (N = 1635 and Salmonella spp. (N = 901 but also including Escherichia coli (N = 368, Candida albicans (N = 200, Klebsiella pneumoniae (N = 60, Enterobacter spp. (N = 54, Enterococcus faecium (N = 53, and Enterococcus faecalis (N = 56. From these data epidemiological cut-off values (ECOFFs are proposed. As would be expected, MBCs were higher than MICs for all biocides. In most cases both values followed a normal distribution. Bimodal distributions, indicating the existence of biocide resistant subpopulations were observed for Enterobacter chlorhexidine susceptibility (both MICs and MBCs and the susceptibility to triclosan of Enterobacter (MBC, E. coli (MBC and MIC and S. aureus (MBC and MIC. There is a concern on the potential selection of antibiotic resistance by biocides. Our results indicate however that resistance to biocides and, hence any potential association with antibiotic resistance, is uncommon in natural populations of clinically relevant microorganisms.

  9. Genomic characterization and molecular investigation of VP7 epitopes of uncommon G10P[8] group A rotavirus strains detected in Italy in 2009.

    Science.gov (United States)

    Ianiro, Giovanni; Delogu, Roberto; Fiore, Lucia; Ruggeri, Franco M

    2015-07-01

    Rotavirus strains with the uncommon genotype G10 have been detected sporadically in cases of acute gastroenteritis in humans and are thought to be transmitted zoonotically. During 2009, 10 G10P[8] rotavirus strains were detected in the stools of children hospitalized with acute diarrhoea in several paediatric hospitals in Italy. The phylogenetic analysis of the VP7 gene of the Italian G10P[8] strains analysed revealed nucleotide identities ranging from 94 to 99 %. Molecular characterization of the 11 genomic segments was performed for one of the G10 strains, which displayed a complete genomic constellation 1 for the non-G genes. The analysis of the deduced amino acid sequences of the G10 VP7 epitopes revealed low amino acid identity with common human strains of different G genotype and with the VP7 proteins included in both anti-rotavirus commercial vaccines (Rotarix and RotaTeq). Amongst the common G genotypes, the VP7 amino acid sequence of the G10 strains showed a high similarity with sequences from G9 strains. A hydrophobic cluster analysis (HCA) of the VP7 protein including aa 20-298 was performed for the G10 Italian sequences in comparison with the major human group A rotavirus G genotypes. The HCA analysis confirmed the findings obtained previously by amino acid analysis of the VP7 epitopes, detecting a genotype-specific pattern of hydrophobicity in the hypervariable regions of the major outer capsid protein.

  10. Central neurocytomas of uncommon locations: report of two cases Localizações incomuns do neurocitoma central: relato de dois casos

    Directory of Open Access Journals (Sweden)

    Francinaldo Lobato Gomes

    2006-12-01

    Full Text Available We report two patients with central neurocytomas at an uncommon location in the brain. The first, a 58-year-old man presenting with signs and symptoms of increased intracranial pressure, had a tumor located at the pineal region. The second, a 21-year-old woman with tumor in the aqueductal region had worsening migraine-like headaches and diplopia. Both patients had obstructive hydrocephalus treated by neuroendoscopic third ventriculostomy and biopsy of the tumors. No additional treatment was done. We conclude that neurocytomas should be considered in the differential diagnosis of tumors located in the pineal and aqueductal regions.Relatamos dois pacientes com neurocitoma central com localização incomum no sistema nervoso central. O primeiro, 58 anos, masculino, apresentava sinais e sintomas de hipertensão intracraniana, tinha um tumor na região da pineal. O segundo, feminino, 21 anos, tinha um tumor na região do aqueduto de Sylvius e apresentava cefaléia migranosa progressiva e diplopia. Ambos apresentavam hidrocefalia obstrutiva tratada com terceiroventriculostomia endoscópica e biópsia da lesão. Não foi feito tratamento adicional. Concluimos que os neurocitomas devem ser considerados no diagnóstico diferencial de tumores localizados na região da pineal e do aqueduto.

  11. Revisiting Mednick’s Model on Creativity-Related Differences in Associative Hierarchies. Evidence for a Common Path to Uncommon Thought

    Science.gov (United States)

    Benedek, Mathias; Neubauer, Aljoscha C

    2013-01-01

    Fifty years ago, Mednick [Psychological Review, 69 (1962) 220] proposed an elaborate model that aimed to explain how creative ideas are generated and why creative people are more likely to have creative ideas. The model assumes that creative people have flatter associative hierarchies and as a consequence can more fluently retrieve remote associative elements, which can be combined to form creative ideas. This study aimed at revisiting Mednick’s model and providing an extensive test of its hypotheses. A continuous free association task was employed and association performance was compared between groups high and low in creativity, as defined by divergent thinking ability and self-report measures. We found that associative hierarchies do not differ between low and high creative people, but creative people showed higher associative fluency and more uncommon responses. This suggests that creativity may not be related to a special organization of associative memory, but rather to a more effective way of accessing its contents. The findings add to the evidence associating creativity with highly adaptive executive functioning. PMID:24532853

  12. An uncommonly common: Glossopharyngeal neuralgia

    Science.gov (United States)

    Singh, P. M.; Kaur, Manpreet; Trikha, Anjan

    2013-01-01

    Glossopharyngeal neuralgia is a relatively rare condition characterized by severe, paroxysmal episodes of pain localized to the external ear canal, the base of the tongue, the tonsil or the area beneath the angle of the jaw. This pain is many a times confused with Trigeminal Neuralgia and mistreated. There are various diagnostic and management dilemmas which are herein addressed in this review. PMID:23661955

  13. Uncommon, undeclared oesophageal foreign bodies

    African Journals Online (AJOL)

    2011-05-11

    May 11, 2011 ... groups are affected, but the incidence is higher in children below 5 years[2-4] and also in the very old, particularly ... interference with breathing and possibility of aspiration.[6]. Fatal complications have been reported in ... corrosive and except for the obvious anxiety on his face, he looked mentally balanced.

  14. Uncommon presentation of pulmonary aspergilloma

    Directory of Open Access Journals (Sweden)

    Baradkar V

    2009-01-01

    Full Text Available Cases of pulmonary aspergilloma without any predisposing factors are rarely reported. Clinical presentation varies from case to case. Here, we report a case of pulmonary aspergilloma in a 60-year-old male patient who was admitted to the Intensive Respiratory Care Unit with spontaneous pneumothorax. The patient had a history of dyspnea on exertion since 9 months and mild haemoptysis since the last 6 months. A computerised tomographic scan of the lungs showed a lesion in the left main bronchus along with obstructive emphysema of the right lung, moderate pneumothorax and mediastinal emphysema. Bronchoscopy was performed and the biopsy samples were processed for histopathological examination and culture on Sabouraud′s dextrose agar, which yielded growth of Aspergillus flavus. Repeat sputum samples also yielded the growth of A. flavus . The patient responded to intravenous liposomaamphotericin B and intercostal drainage.

  15. Salivary gland diseases in children

    Science.gov (United States)

    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

  16. Peribiliary cysts can mimic Caroli's disease: a case report.

    Science.gov (United States)

    Fusai, G; Tucker, O; Nik Sulaiman, N M; Karani, J; Rela, M; Portmann, B

    2005-10-01

    Peribiliary cysts, otherwise known as cystic dilatation of the peribiliary glands, are uncommon, and are usually discovered incidentally at autopsy, or in explants following liver transplantation. Preoperative diagnosis is often difficult owing to their asymptomatic nature and small size. Exclusion of a premalignant or malignant cystic condition is mandatory. We report a case of peribiliary cysts, initially thought to represent Caroli's disease, and briefly discuss the management of this condition.

  17. Rare Submandibular Presentation of Pediatric Castleman Disease: Case Report.

    Science.gov (United States)

    Hamilton, Jodi; Mandel, Louis

    2017-04-01

    Castleman disease (CD), a benign lymphoproliferative disorder that affects lymph nodes, is uncommon in children, with only approximately 100 cases published. Although 23% of pediatric CD cases are found in the neck, there is no substantial reported percentage found in the salivary glands, especially the submandibular salivary gland (SMSG). A pediatric case of CD involving the SMSG is reported because of its extreme rarity. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  18. Noninfectious diseases, metabolic diseases, toxicities, and neoplastic diseases of South American camelids.

    Science.gov (United States)

    Smith, J A

    1989-03-01

    Although the SAC generally are healthy and tolerant of a wide variety of management schemes, a number of noninfectious diseases have been documented to occur, affecting all body systems. Gastrointestinal diseases appear to be the most common afflictions, particularly dental diseases, indigestion, ulceration of the third compartment, and the various causes of colic, such as enteritis, peritonitis, and intestinal accidents. Diseases of the urinary system (urolithiasis, amyloidosis, and glomerulonephritis in particular), the nervous system (especially various compressive lesions of the spinal cord), and the respiratory system (such as obstructive pulmonary diseases) are not uncommon. Diseases of the cardiovascular system (other than congenital defects), hemolymphatic system, and nonsurgical diseases of the musculoskeletal system only rarely are encountered. Heat stress appears to be a very common problem in certain areas, but other metabolic diseases (ketosis, hypocalcemia, and hypothyroidism) are of minor importance. It is assumed that SAC are susceptible to most of the same toxicities that affect domestic livestock species. The best documented examples appear to be the Ericaceae family of plants (laurels, rhododendrons, and so on) and the organophosphate chlorpyrifos. Neoplasia occasionally is seen; examples include lymphosarcoma, gastric squamous cell carcinoma, and adenocarcinoma. As the longevity of these species increases because of their pet status, neoplasia can be expected to become more common. The treatment of most of these conditions is based upon extrapolation from domestic ruminants.

  19. Kikuchi Fujimoto Disease

    Directory of Open Access Journals (Sweden)

    Al-Bishri Jamal

    2012-01-01

    Full Text Available In order to determine the clinical significance of Kikuchi Fujimoto Disease (histiocytic necrotizing lymhadenitis and to review the literature available on this condition, we selected the Medicine research papers in English language published between the years 1972 to 2011. Kikuchi Fujimoto Disease (KFD is an uncommon, cosmopolitan, benign and self-limiting condition with higher Japanese and Asian prevalence. Most of the sufferers of KFD are young people who seek treatment because of having acute tender cervical lymphadenopathy, low grade fever and night sweats. Coagulative necrosis with ample karyorrhetic debris in paracortical areas of the involved lymph nodes is the characteristic histologic feature of KFD. Diagnosing KFD is crucial as it can be mistaken for malignant lymphoma and SLE. KFD was put forth first time in 1972 by Dr. Masahiro Kikuchi and by Funimoto as lymphadenitis with reticular proliferation, histiocytes and abundant nuclear debris. It is a rare benign condition of lymph nodes and most of the clinicians and pathologists are unfamiliar with it. KFD is self-limiting disease (within 1 to 4 months, however, patients should be followed up regularly as it may crop up again or progress to SLE. Analgesics and antipyretics help to ameliorate the symptoms.

  20. Uma insólita visita: Fidel Castro no Chile de Allende An uncommon visit: Fidel Castro in Allende’s Chile

    Directory of Open Access Journals (Sweden)

    Alberto Aggio

    2003-01-01

    Full Text Available Este artigo busca expor sinteticamente o que foi a viagem que Fidel Castro realizou ao Chile em novembro de 1971, e também refletir a respeito tanto das estratégias políticas evidenciadas por Castro em sua estadia no Chile, quanto sobre as conseqüências que derivaram dessas estratégias para o processo conhecido como a "experiência chilena". Conclui afirmando que, se não se pode atribuir à visita de Fidel toda a confrontação que mais tarde iria se estabelecer no Chile, também não se pode isentar integralmente o dirigente cubano de uma certa responsabilidade quanto à situação que se impôs. Esta viagem de Fidel ao Chile de Allende foi uma viagem incomum, distinta de qualquer padrão diplomático, e abrigou silenciosamente uma profunda disputa política no interior da esquerda latino-americana que permaneceu por muito tempo desconhecida.This paper discusses briefly the meaning of Fidel Castro’s visit to Chile in November 1971; it intends as well to present a reflection on both the political strategies shown by Fidel during his stay in Chile and its consequence for the process known as "the Chilean experience". It takes us to assume that if all confrontation that occurred in Chile late on cannot be attributed to this visit, neither can Fidel be considered completely free from responsibility for it. This visit to Allende’s Chile was uncommon, different from all diplomatic patterns; it resulted in a silent and deep political dispute in the Latin-American Left, which remained unknown for much time.

  1. Nutritional Status of Maintenance Dialysis Patients: Low Lean Body Mass Index and Obesity Are Common, Protein-Energy Wasting Is Uncommon.

    Science.gov (United States)

    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.

  2. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease

    DEFF Research Database (Denmark)

    Husby, S; Koletzko, S; Korponay-Szabó, I R

    2012-01-01

    Diagnostic criteria for coeliac disease (CD) from the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) were published in 1990. Since then, the autoantigen in CD, tissue transglutaminase, has been identified; the perception of CD has changed from that of a rather...... uncommon enteropathy to a common multiorgan disease strongly dependent on the haplotypes human leukocyte antigen (HLA)-DQ2 and HLA-DQ8; and CD-specific antibody tests have improved....

  3. Amyotrophic form of Creutzfeldt-Jakob disease with rapid course in 82-year-old man.

    Science.gov (United States)

    Nowacki, P; Kulczycki, J; Narolewska, A; Grzelec, H

    2000-01-01

    The authors present a case of Creutzfeldt-Jakob disease in 82-year-old man. Besides the onset of the disease in the elderly and short survival time (8 weeks), other uncommon clinical and morphological features also characterized our case. An evident amyotrophic syndrome, confirmed in morphological findings, developed soon after the CJD onset. The spongiform change also observed within the white matter of cerebral hemispheres allowed us to diagnose the 'panencephalopathic' form of CJD.

  4. A literature review and case report of hand, foot and mouth disease in an immunocompetent adult

    OpenAIRE

    Oma?a-Cepeda, Carlos; Mart?nez-Valverde, Andrea; del Mar Sabater- Recolons, Mar?a; Jan?-Salas, Enric; Mar?-Roig, Antonio; L?pez-L?pez, Jos?

    2016-01-01

    Background: 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. Case report: 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; itchi...

  5. A rare association of Castleman′s disease and nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    I Tazi

    2011-01-01

    Full Text Available Castleman′s Disease (CD is an uncommon and poorly understood disorder of lymph node hyperplasia of unknown etiology. This entity belongs to the atypical lymphoproliferative disorders, a heterogeneous group of diseases characterized by a hyperplastic reactive process involving the immune system. The association of the nephrotic syndrome and CD is extremely rare and their interrelation remains enigmatic. We report a case of CD of the hyaline-vascular type with unicentric localization complicated by nephrotic syndrome.

  6. Complementary and alternative medicine for rheumatic diseases

    Directory of Open Access Journals (Sweden)

    Teng Sophia

    2016-08-01

    Full Text Available The use of complementary and alternative medicine is not uncommonly encountered in our patients. This manuscript reviewed the latest evidence on other modalities in treating rheumatic diseases. Treatments that are found to be helpful for rheumatoid arthritis include herbs, fish oil, and acupuncture. Fish oil, vitamin D, N-acetylcysteine, and cognitive behavior treatments are helpful for systemic lupus erythematosus. Hydrotherapy and massage are potentially beneficial for fibromyalgia patients. Diet supplement is not found to be beneficial for osteoarthritis. CAM modalities will need further studies.

  7. An Uncommon Presentation of a Metachronous Testicular Primary Nonseminoma and Seminoma Separated by Two Decades and a Testicular Cancer Literature Review

    Directory of Open Access Journals (Sweden)

    Dennis Andrew Buck

    2017-09-01

    cumulative risk of contralateral metachronous testicular cancer of 1.9% versus the seemingly contradictory 5.2% cumulative risk 25 years after the first testicular germ cell tumor. With his second primary (seminoma, he presented with the common retroperitoneal landing zone site, though with an uncommon involvement of the gastrointestinal tract (<1% and rare incidence of involving the duodenum.

  8. An Uncommon Presentation of a Metachronous Testicular Primary Nonseminoma and Seminoma Separated by Two Decades and a Testicular Cancer Literature Review.

    Science.gov (United States)

    Buck, Dennis Andrew; Smith, Tristan Dean; Montana, Wilbur Nelson

    2017-01-01

    .9% versus the seemingly contradictory 5.2% cumulative risk 25 years after the first testicular germ cell tumor. With his second primary (seminoma), he presented with the common retroperitoneal landing zone site, though with an uncommon involvement of the gastrointestinal tract (<1%) and rare incidence of involving the duodenum.

  9. Telavancin activity when tested by a revised susceptibility testing method against uncommonly isolated Gram-positive pathogens responsible for documented infections in hospitals worldwide (2011-2013).

    Science.gov (United States)

    Mendes, Rodrigo E; Sader, Helio S; Flamm, Robert K; Farrell, David J; Jones, Ronald N

    2015-03-01

    The broth microdilution method for telavancin susceptibility testing was revised and now utilises DMSO as solvent for stock solution preparation and diluent for stock solution dilution, following CLSI guidelines for water-insoluble agents. The revised method also incorporates polysorbate 80 in the test medium to mitigate drug binding to plastics. This revised methodology provides more accurate and reproducible MIC determinations, which results in values lower than the previously established method. This study was conducted to re-establish telavancin potencies and susceptibility profiles (using updated interpretive criteria) against a collection of uncommon clinical pathogens (3821 isolates). Telavancin showed MIC50 values of 0.06mg/L against tested staphylococcal species (MIC50/90, 0.03/0.06mg/L; 98.1-100.0% susceptible), with lower results for Staphylococcus hominis (MIC50, ≤0.015mg/L), Staphylococcus lugdunensis (MIC50, ≤0.015mg/L) and Staphylococcus simulans (MIC50, 0.03mg/L). Vancomycin (MIC50, 1mg/L), daptomycin (MIC50, 0.12-1mg/L) and linezolid (MIC50, 0.25-1mg/L) had MIC50 results at least four-fold higher than telavancin against CoNS. Streptococci (99.2-100.0% susceptible) displayed telavancin MIC50 values of ≤0.015-0.03mg/L. Vancomycin (MIC50, 0.25-0.5mg/L) and linezolid (MIC50, 0.5-1mg/L) had higher MIC50 results against streptococci, whilst daptomycin MIC50 values varied from ≤0.06mg/L to 0.5mg/L. Micrococcus, Listeria and Corynebacterium spp. were inhibited by telavancin at ≤0.015, ≤0.03 and ≤0.06mg/L, respectively. Telavancin exhibited potent in vitro activity against this collection, greater than comparators (daptomycin, linezolid, vancomycin). This study provides new baseline MIC results for telavancin and confirms the spectrum and potency of telavancin against less commonly encountered Gram-positive species. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  10. Dengue eye disease.

    Science.gov (United States)

    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.

  11. Cystic lung disease: Achieving a radiologic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Trotman-Dickenson, Beatrice, E-mail: btrotmandickenson@partners.org

    2014-01-15

    Diffuse cystic lung disease represents a diverse group of uncommon disorders with characteristic appearance on high resolution CT imaging. The combination of imaging appearance with clinical features and genetic testing where appropriate permits a confident and accurate diagnosis in the majority of the diseases without recourse for open lung biopsy. The mechanism of cyst development disease is unclear but in some disorders appears to be related to small airways obstruction. These diseases are incurable, with the exception of Langerhans cell histiocytosis which may spontaneously remit or resolve on smoking cessation. Disease progression is unpredictable; in general older patients have a more benign disease, while young patients may progress rapidly to respiratory failure. An understanding of the complications of cystic lung disease and the appearance of disease progression is essential for the management of these patients. A number of these disorders are associated with malignancy, recognition of the potential tumors permits appropriate imaging surveillance. Due to the widespread use of CT, pulmonary cysts are increasingly discovered incidentally in an asymptomatic individual. The diagnostic challenge is to determine whether these cysts represent an early feature of a progressive disease or have no clinical significance. In the elderly population the cysts are unlikely to represent a progressive disease. In individuals <50 years further evaluation is recommended.

  12. Sickle cell disease with orbital infarction and epidural hematoma

    Energy Technology Data Exchange (ETDEWEB)

    Naran, A.D.; Fontana, L. [Dept. of Diagnostic Radiology, New York Methodist Hospital, Brooklyn, NY (United States)

    2001-04-01

    Although bone infarction is a common feature in sickle cell disease, the involvement of the orbit is an unusual complication. Intracranial bleeding is another uncommon and serious complication. Few cases of orbital infarction alone have been reported. We report imaging findings (CT, bone scan, MRI) in a 16-year-old boy with sickle cell disease with orbital infarction and epidural hematoma. The precise cause of epidural hematoma is not well known, but it is probably related to vaso-occlusive episodes and the tearing of small vessels. (orig.)

  13. Tumour Calcification and Calciphylaxis in End-Stage Renal Disease

    Directory of Open Access Journals (Sweden)

    Jia Di

    2014-01-01

    Full Text Available Although soft tissue and vascular calcifications are common in CKD and progress as an independent risk factor of all-cause mortality, tumour calcification and calciphylaxis are uncommon in patients with end-stage renal disease (ESRD. Here, we discuss a rare case of a patient with tumour calcification complicated with calciphylaxis developed septic shock from infection. Our patient is a 57-year-old man in his late stage of renal disease who presented with a huge mass at the right hip and necrotic cutaneous ulcers on the lower legs followed by local and systemic infection and death due to septic shock.

  14. Extramammary Paget’s disease of the scrotum

    Directory of Open Access Journals (Sweden)

    Guang-Dar Juang

    2011-07-01

    Full Text Available Extramammary Paget’s disease is an uncommon intra-epidermal malignant neoplasm that arises in area rich in apocrine glands. Common sites of occurrence include the vulva, perianal region, perineum, and scrotum. The lesion may be accompanied by an invasive adenocarcinoma or adenocarcinoma in situ of the apocrine glands. Generally, the prognosis is poor. Herein, we report two cases of extramammary Paget’s disease, one involving the penoscrotal area with bilateral inguinal and pelvic lymph node metastases, the other involving the scrotal area without metastases.

  15. Diffuse Caroli's disease with atypical presentation: a case report.

    Science.gov (United States)

    Acioli, Maíra Lima; Costa, Lawrence Raizama Gonçalves; de Miranda Henriques, Mônica Souza

    2014-01-01

    This paper describes a case of Caroli's disease in a female patient aged 32, who complained of nonspecific abdominal pain without cholesthasis or cholangitis. Liver resonance shows segment saccular dilations closely connected to intrahepatic biliary ducts, that differ from the Caroli's syndrome, which is more common and consists of multiple intrahepatic cystic dilatations, associated to congenital hepatic fibrosis. This patient has a congenital anomaly with an uncommon oligosymptomatic form of Caroli's disease that should be included in the differential diagnosis of patients with recurrent abdominal pain.

  16. Multicentric Castleman's Disease in a Child Revealed by Chronic Diarrhea.

    Science.gov (United States)

    Benmiloud, Sarra; Chaouki, Sana; Atmani, Samir; Hida, Moustapha

    2015-01-01

    Multicentric Castleman's disease is a rare benign and unexplained lymphoproliferative disorder that is extremely uncommon in children. It presents with fever, systemic symptoms, generalized lymphadenopathy, and laboratory markers of inflammation. Its treatment is not standardized and its prognosis is poor. We report a novel case of multicentric Castleman's disease in a 13-year-old girl who had presented with chronic diarrhea as the only initial presenting symptom. The diagnosis of celiac or inflammatory bowel diseases was suspected, but two and a half years later, the diagnosis of multicentric Castleman's disease was brought following the appearance of abdominal mass whose biopsy revealed Castleman's disease in the plasma cell form. The outcome was favorable after treatment by corticosteroid, chemotherapy, and surgery. The occurrence of diarrhea as the initial symptom of multicentric Castleman's disease without lymph node involvement is very rare. This case report underlines the diagnostic difficulties and the long interval between onset and diagnosis when diarrhea occurs first.

  17. Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece

    NARCIS (Netherlands)

    Raptaki, Maria; Varela, Ioanna; Spanou, Kleopatra; Tzanoudaki, Marianna; Tantou, Sofia; Liatsis, Manolis; Constantinidou, Nikki; Bakoula, Chryssa; Roos, Dirk; Kanariou, Maria

    2013-01-01

    Chronic Granulomatous Disease (CGD) is an uncommon primary immunodeficiency caused by the absence or dysfunction of one of NADPH oxidase subunits, with heterogeneous genetic aetiologies. The aim of this study was the CGD patient registry in Greece, the identification of the responsible genotype and

  18. A case report of symptomatic gallbladder disease in the setting of peritoneal carcinomatosis originating from invasive lobular carcinoma of the breast

    Directory of Open Access Journals (Sweden)

    David Brinkman

    2016-01-01

    Conclusion: Symptomatic gallbladder disease in the setting of peritoneal carcinomatosis secondary to invasive lobular carcinoma is an uncommon presentation to surgeons. A diagnostic laparoscopy is the preferred initial evaluation. If deemed feasible, and if the surgeon has the required experience, a laparoscopic cholecystectomy can be undertaken selectively.

  19. Comparison of the Bruker Biotyper and VITEK MS Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry Systems Using a Formic Acid Extraction Method to Identify Common and Uncommon Yeast Isolates.

    Science.gov (United States)

    Lee, Hyun Seung; Shin, Jong Hee; Choi, Min Ji; Won, Eun Jeong; Kee, Seung Jung; Kim, Soo Hyun; Shin, Myung Geun; Suh, Soon Pal

    2017-05-01

    Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) allows rapid and accurate identification of clinical yeast isolates. In-tube formic acid/acetonitrile (FA/ACN) extraction is recommended prior to the analysis with MALDI Biotyper, but the direct on-plate FA extraction is simpler. We compared the Biotyper with the VITEK MS for the identification of various clinically relevant yeast species, focusing on the use of the FA extraction method. We analyzed 309 clinical isolates of 42 yeast species (four common Candida species, Cryptococcus neoformans, and 37 uncommon yeast species) using the Biotyper and VITEK MS systems. FA extraction was used initially for all isolates. If 'no identification' result was obtained following the initial FA extraction, these samples were then retested by using FA (both systems, additive FA) or FA/ACN (Biotyper only, additive FA/ACN) extraction. These results were compared with those obtained by sequence-based identification. Both systems correctly identified all 158 isolates of the four common Candida species after the initial FA extraction. The Biotyper correctly identified 8.7%, 30.4%, and 100% of 23 C. neoformans isolates after performing initial FA, additive FA, and FA/ACN extractions, respectively, while VITEK MS identified all C. neoformans isolates after the initial FA extraction. Both systems had comparable identification rates of 37 uncommon yeast species (128 isolates), following the initial FA (Biotyper, 74.2%; VITEK MS, 73.4%) or additive FA (Biotyper, 82.0%; VITEK MS, 73.4%). The identification rate of most common and uncommon yeast isolates is comparable between simple FA extraction/Biotyper method and VITEK MS methods, but FA/ACN extraction is necessary for C. neoformans identification by Biotyper.

  20. Endocrine Diseases

    Science.gov (United States)

    ... to. Featured Topics Adrenal Insufficiency and Addison's Disease Pregnancy & Thyroid Disease Hypothyroidism (Underactive Thyroid) Hashimoto's Disease Hyperthyroidism (Overactive Thyroid) Graves' ...

  1. Two Uncommon Sites of Metastasis: Breast and Hypophysis Metastases of Head and Neck Adenoid Cystic Carcinoma Detected by FDG PET/CT

    OpenAIRE

    Evrim Sürer Budak; Şenay Yıldırım; Sevim Yıldız; Ali Ozan Öner; Şeyda Gündüz

    2017-01-01

    Adenoid cystic carcinoma (ACC) is a rare epithelial malignancy arising from secretory glands, particularly the salivary glands. It tends to invade nerves and has a high potential for distant hematogenous metastasis, especially to the lungs, bone, liver and brain. The breast and hypophysis are not common sites of ACC metastatic disease. Herein, we report a case of ACC of the head and neck region with two unusual sites of metastases, the hypophysis and breast.

  2. Two Uncommon Sites of Metastasis: Breast and Hypophysis Metastases of Head and Neck Adenoid Cystic Carcinoma Detected by FDG PET/CT.

    Science.gov (United States)

    Sürer Budak, Evrim; Yıldırım, Şenay; Yıldız, Sevim; Öner, Ali Ozan; Gündüz, Şeyda

    2017-10-03

    Adenoid cystic carcinoma (ACC) is a rare epithelial malignancy arising from secretory glands, particularly the salivary glands. It tends to invade nerves and has a high potential for distant hematogenous metastasis, especially to the lungs, bone, liver and brain. The breast and hypophysis are not common sites of ACC metastatic disease. Herein, we report a case of ACC of the head and neck region with two unusual sites of metastases, the hypophysis and breast.

  3. Two Uncommon Sites of Metastasis: Breast and Hypophysis Metastases of Head and Neck Adenoid Cystic Carcinoma Detected by FDG PET/CT

    Directory of Open Access Journals (Sweden)

    Evrim Sürer Budak

    2017-10-01

    Full Text Available Adenoid cystic carcinoma (ACC is a rare epithelial malignancy arising from secretory glands, particularly the salivary glands. It tends to invade nerves and has a high potential for distant hematogenous metastasis, especially to the lungs, bone, liver and brain. The breast and hypophysis are not common sites of ACC metastatic disease. Herein, we report a case of ACC of the head and neck region with two unusual sites of metastases, the hypophysis and breast.

  4. Voriconazole-Induced Periostitis Mimicking Chronic Graft-versus-Host Disease after Allogeneic Stem Cell Transplantation.

    Science.gov (United States)

    Sweiss, Karen; Oh, Annie; Rondelli, Damiano; Patel, Pritesh

    2016-01-01

    Voriconazole is an established first-line agent for treatment of invasive fungal infections in patients undergoing allogeneic stem cell transplantation (ASCT). It is associated with the uncommon complication of periostitis. We report this complication in a 58-year-old female undergoing HSCT. She was treated with corticosteroids with minimal improvement. The symptoms related to periostitis can mimic chronic graft-versus-host disease in patients undergoing HSCT and clinicians should differentiate this from other diagnoses and promptly discontinue therapy.

  5. Whipple's disease: a case. Enfermedad de Whipple: a proposito de un caso

    Energy Technology Data Exchange (ETDEWEB)

    Cruz Diaz, M.; Pitti Reyes, S.; Comas Serrano, V.; Rodriguez Torres, J.; Toledo Trujillo, F. (Hospital Universitario de Canarias, Las palmas de Gran Canarias (Spain))

    1994-01-01

    Whipple's disease, or intestinal lipodystrophy, is an uncommon systemic pathology which generally involves small bowel, but occasionally presents at an extra intestinal site. The clinical onset usually consists of the classical triad of diarrhea, arthralgias and fever, and the definitive diagnosis is based on the histological study. We present a case diagnosed by computed tomography (CT) and confirmed by intestinal biopsy. (Author)

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

    Directory of Open Access Journals (Sweden)

    Kyung Won Doo, MD

    2018-02-01

    Full Text Available 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.

  7. A Rare Case Report of Simultaneous Medullary Thyroid Cancer and Castleman's Disease

    OpenAIRE

    A.R. Rastgoo Haghi; M.A. Fereiduni; A. Dehghan; M. Shayani Nasab; M. Shams

    2012-01-01

    Introduction: Medullary thyroid cancer (MTC) is a neuroendocrine tumor which originates from the parafollicular cells. The prognosis of MTC is poor and thyroidectomy can be effective. Castleman's disease or angiofollicular lymph node hyperplasia is an uncommon benign lymphoproliferative disorder. The most common form is hyaline vascular type which is usually asymptomatic and surgical resection often cures it.Case Report: The case was a 38-year-old male with a thyroid mass resected by surgery....

  8. Pseudotumoral Behçet's disease.

    Science.gov (United States)

    Alonso, Sara; Riveros-Frutos, Anne; Martínez-Morillo, Melania; Grau-Ferrer, Laia; Carrato, Cristina; Olivé, Alejandro

    2016-01-01

    Behçet's disease is a systemic vasculitis characterized by the presence of oral and genital ulcers. Neurological involvement or neuro-Behçet is an uncommon manifestation. It manifestation has predominance in the male gender appearing 2 to 4 years after the first clinical manifestation. However, neuro-Behçet disease sometimes occurs with pseudotumoral brain lesions. Herein, we present the cases of two patients diagnosed with neuro-Behçet after detection of pseudotumoral brain lesions. A review of the literature is performed. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  9. Heart Disease

    Science.gov (United States)

    ... type of heart disease you have. Symptoms of heart disease in your blood vessels (atherosclerotic disease) Cardiovascular disease ... can sometimes be found early with regular evaluations. Heart disease symptoms caused by abnormal heartbeats (heart arrhythmias) A ...

  10. Down's syndrome and Alzheimer's disease.

    Science.gov (United States)

    Sigal, M J; Levine, N

    1993-10-01

    Individuals with Down's syndrome (DS) who live to be 40 years of age will demonstrate neuropathological changes that are consistent with Alzheimer's disease (AD). Due to modern medical intervention, we are now observing an aging DS population. Middle-aged Down's syndrome adults are actually considered to be "very old," and it is not uncommon to observe a progressive loss of cognitive function and a decline in the ability to perform daily tasks consistent with that seen in Alzheimer's disease. At this stage, the DS individual will not be able to perform daily preventive dental care and may be unable to cooperate for professional dental care. Clinicians who care for DS adults must be aware of this problem when preparing their dental treatment plans, which must emphasize preventive care prior to the onset of dementia and the maintenance of that program during their patients' cognitive decline. In the latter stages of AD, it may be necessary to extract all the remaining teeth due to the inability of the individual or care giver to provide adequate oral hygiene to prevent dental caries or periodontal disease.

  11. Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)

    Energy Technology Data Exchange (ETDEWEB)

    Nishimuri, Gen [Dokkyo Univ. School of Medicine, Tochigi (Japan); Fukushima, Yoshimitsu; Ohashi, Hirofumi [Saitama Children`s Medical Center, Saitama (Japan); Ikegawa, Shiro [Tokyo Univ. (Japan)

    1995-11-20

    The recent discovery of mutations in the FGFR-3 (fibroblast growth factor receptor-3) gene (FGFR3) as the cause of achondroplasia has provided new insight into understanding genetic diseases. It was surprising from the viewpoint of molecular genetics that most patients with achondroplasia showed the same mutation at nucleotide 1138, leading to a single amino acid substitution from glycine to arginine at codon 380 (Gly380Arg). All 39 patients examined by two groups had the Gly380Arg; 38 patients and the other demonstrated a G to A and a G to C transition at nucleotide 1138, respectively. Subsequently another group disclosed a G to A transition at the same nucleotide 1138 in 21/23 patients of diverse ethnic origin, although mutations were not identified in two patients. To date, a total of 193 patients with the mutation of the G380Arg have been reported; a single patient with another mutation resulting in a substitution from glycine to cysteine at codon 375 (Gly375Cys) has been described. The presence of this common mutation is consistent with the clinical fact that achondroplastic individuals show less phenotypic variability than is unusual for autosomal dominant diseases. We encountered a Japanese boy with the Gly375Cys. His mother with achondroplasia has the same mutation. The molecular investigation of these patients was reported elsewhere. Here we report the clinical and radiological findings in this boy who demonstrated some atypical manifestations from those of typical achondroplasia. 8 refs., 1 fig.

  12. [Severe depression : concomitant somatic disease].

    Science.gov (United States)

    Cottencin, O

    2009-12-01

    The association of somatic disease with a depressive disorder is not uncommon and affects 25% of general hospital inpatient populations. Although not well incorporated into management it is a source of mutual worsening of the two diseases. Several questions arise with this association. Firstly, it is essential to establish whether the depressive disorder is primary or secondary as these situations occasionally involve different (and even opposite) diagnostic and treatment approaches. It is then important to establish whether or not the disorder is adaptatory in nature : although an adaptatory problem does not have the same impact as depression on somatic outcome, it can progress to endogenous depression. Finally it is essential to identify the extent of suicidal risk, which is not only due to the depression but more to the feeling of despair (which is common in patients suffering from severe somatic illness). We will then examine the severity of these interlinked depressions in terms of the diagnostic difficulties (from confusion of symptoms to considering them to be unimportant). We shall then describe all of the consequences of the somatic disease on the prognosis of the depression and vice versa. Finally we will examine the question of severity from the perspective of the most widely studied associated diseases. Whilst the presence of an incapacitating somatic disease is a risk factor for depression in these vulnerable people, depression associated with the different major somatic diseases is a poor prognostic indicator. Somatic co-morbidities are still underestimated and are a factor responsible for chronic progression, deterioration and increased risk of suicide. Copyright 2009 L'Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  13. Apresentações incomuns no diagnóstico por imagem do pseudotumor intraósseo do hemofílico Uncommon presentations of intraosseous hemophilic pseudotumor in imaging diagnosis

    Directory of Open Access Journals (Sweden)

    Marcel Koenigkam Santos

    2009-06-01

    Full Text Available OBJETIVO: Este estudo tem como objetivo descrever apresentações incomuns do pseudotumor do hemofílico no diagnóstico por imagem. MATERIAIS E MÉTODOS: Estudo retrospectivo com avaliação de cinco pseudotumores ósseos do hemofílico em dois pacientes. Os achados de imagem em dois pacientes hemofílicos tipo A foram avaliados em consenso por dois radiologistas musculoesqueléticos. Foram estudados exames de radiografia simples, tomografia computadorizada e ressonância magnética. RESULTADOS: Em uma das lesões analisadas a fase pós-contraste intravenoso da tomografia computadorizada mostrou áreas de reforço heterogêneo e de aspecto sólido no interior da lesão da coxa direita. Este aspecto foi confirmado no exame anatomopatológico da lesão em questão. Outro achado raro foi a identificação de dois pseudotumores intraósseos no úmero, separados por segmento de osso normal. E, por fim, também um pseudotumor do fêmur com extensão para partes moles e transarticular, com conseqüente acometimento da tíbia e patela. CONCLUSÃO: Os achados de diagnóstico por imagem acima descritos não são comumente relatados para os pseudotumores ósseos do hemofílico. É importante que o radiologista tenha conhecimento dessas apresentações mais raras.OBJECTIVE: The present study was aimed at describing uncommon presentations of intraosseous hemophilic pseudotumor in imaging diagnosis. MATERIALS AND METHODS: Retrospective study evaluating five hemophilic pseudotumors in bones of two patients with hemophilia A. Imaging findings were consensually evaluated by two musculoskeletal radiologists. Plain radiography, computed tomography and magnetic resonance imaging studies were analyzed. RESULTS: At contrast-enhanced computed tomography images, one of the lesions on the left thigh was visualized with heterogeneously enhanced solid areas. This finding was later confirmed by anatomopathological study. Another uncommon finding was the identification of

  14. Invasive amebiasis and ameboma formation presenting as a rectal mass: An uncommon case of malignant masquerade at a western medical center

    Science.gov (United States)

    Hardin, Rosemarie E; Ferzli, George S; Zenilman, Michael E; Gadangi, Pratap K; Bowne, Wilbur B

    2007-01-01

    A 54-year-old man presented with rectal pain and bleeding secondary to ulcerated, necrotic rectal and cecal masses that resembled colorectal carcinoma upon colonoscopy. These masses were later determined to be benign amebomas caused by invasive Entamoeba histolytica, which regressed completely with medical therapy. In Western countries, the occurrence of invasive protozoan infection with formation of amebomas is very rare and can mistakenly masquerade as a neoplasm. Not surprisingly, there have been very few cases reported of this clinical entity within the United States. Moreover, we report a patient that had an extremely rare occurrence of two synchronous lesions, one involving the rectum and the other situated in the cecum. We review the current literature on the pathogenesis of invasive E. histolytica infection and ameboma formation, as well as management of this rare disease entity at a western medical center. PMID:17948943

  15. A child with a long-standing, intensely itching subcutaneous nodule on a thigh: an uncommon (?) reaction to commonly used vaccines.

    Science.gov (United States)

    Bergfors, Elisabet; Lundmark, Katarzyna; Nyström Kronander, Ulla

    2013-01-24

    A 2-year-old girl presented with an intensely itching subcutaneous nodule on the front of a thigh. The nodule persisted for 10 months until it was excised. Subsequent investigation for malignancy and systemic disease showed no pathological findings. The diagnosis, persistent itching vaccination granuloma, was revealed by hazard almost 2 years after the onset of symptoms. Persistent itching subcutaneous nodules at the injection site for aluminium containing vaccines (mostly diphtheria-tetanus-pertussis combination vaccines for primary immunisation of infants) may appear with a long delay after the vaccination (months), cause prolonged itching (years) and are often associated with contact allergy to aluminium. The condition is poorly recognised in Health Care which may lead to prolonged symptoms and unnecessary investigations.

  16. A Case of Bordetella brochiseptica at a Military Medical Facility in Hawai‘i: Phenotypic and Molecular Testing of an Uncommon Human Pathogen

    Science.gov (United States)

    Agee, Willie A; Kajiura, Lauren; Hawley-Molloy, Joshua S; Staege, Catherine M; Barnhill, Jason C

    2015-01-01

    Bordetella bronchiseptica (B. bronchiseptica) is rarely implicated in human disease. Human infections typically occur in the context of immunosuppression and while human infection has been sporadically reported in the literature, the majority of these reports are largely descriptive and do not explore the molecular and phenotypic properties of the isolates in question. Here we report the isolation and characterization of a B. bronchiseptica isolate derived from an HIV positive patient at Tripler Army Medical Center on O‘ahu. This case represents the first published report of human infection of B. bronchiseptica in the state of Hawai‘i and the most detailed description of the biochemical and molecular features of a Hawaiian isolate to date. PMID:26225268

  17. A Case of Bordetella brochiseptica at a Military Medical Facility in Hawai'i: Phenotypic and Molecular Testing of an Uncommon Human Pathogen.

    Science.gov (United States)

    Washington, Michael A; Agee, Willie A; Kajiura, Lauren; Hawley-Molloy, Joshua S; Staege, Catherine M; Barnhill, Jason C

    2015-07-01

    Bordetella bronchiseptica (B. bronchiseptica) is rarely implicated in human disease. Human infections typically occur in the context of immunosuppression and while human infection has been sporadically reported in the literature, the majority of these reports are largely descriptive and do not explore the molecular and phenotypic properties of the isolates in question. Here we report the isolation and characterization of a B. bronchiseptica isolate derived from an HIV positive patient at Tripler Army Medical Center on O'ahu. This case represents the first published report of human infection of B. bronchiseptica in the state of Hawai'i and the most detailed description of the biochemical and molecular features of a Hawaiian isolate to date.

  18. Uncommon course of a non-small-cell bronchial carcinoma with intradural metastasing; Case report. Ungewoehnlicher Verlauf eines nicht-kleinzelligen Bronchialkarzinoms mit intraduraler Metastasierung; Der besondere Fall

    Energy Technology Data Exchange (ETDEWEB)

    Skutta, D. (Duesseldorf Univ. (Germany). Klinik fuer Strahlentherapie und Radiologische Onkologie); Pape, H. (Duesseldorf Univ. (Germany). Klinik fuer Strahlentherapie und Radiologische Onkologie); Wurm, R. (Duesseldorf Univ. (Germany). Klinik fuer Strahlentherapie und Radiologische Onkologie)

    1993-06-01

    A 42-year-old man with a poorly differentiated large cell bronchial carcinoma of the right upper lobe with pleural and chest wall infiltration achieved a clinical complete remission after R2-resection and postoperative irradation. The primary stage was pT3 N0 MX G3. After radiotherapy he developed an incomplete paraplegia with muscle weakness below Th12/L1. The MR-tomography showed multiple intradural lesions with a lump at level C6. Cerebrospinal fluid (CSF) analysis revealed a pathologic protein pattern and tumor cells. After intrathecal chemotherapy and simultaneous irradiation of the neuroaxis a clinical complete remission was obtained. Due to pulmonary progressive disease with consecutive pneumonia, the patient deteriorated and died 9 months after primary diagnosis. (orig.)

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

    Science.gov (United States)

    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.

  20. Non-communicable diseases--finally on the global agenda.

    Science.gov (United States)

    Wielgosz, A T

    2011-06-01

    After the UN Millennium Development Goals were declared in September 2000 (see Table 1), one of the major short-comings recognized world-wide was the lack of mention of non-communicable diseases (NCDs). While AIDS and malaria were included, none of the leading and universal non-communicable causes of death made the list. There was no mention of cardiovascular diseases, cancer or diabetes, even though these place a far greater burden on global health and economic development than the infectious diseases, and are predicted to continue to increase in epidemic proportions. After much public discussion and intense lobbying, a significant-and uncommon-achievement occurred: on May 13th, 2010, the United Nations General Assembly voted in favour of convening a summit on non-communicable diseases, to take place in September 2011.

  1. Moyamoya disease in a primarily white, midwestern US population: increased prevalence of autoimmune disease.

    Science.gov (United States)

    Bower, Regina S; Mallory, Grant W; Nwojo, Macaulay; Kudva, Yogish C; Flemming, Kelly D; Meyer, Fredric B

    2013-07-01

    Moyamoya disease is an uncommon, cerebrovascular occlusive disease of unknown pathogenesis. Previously described Moyamoya cohorts include predominantly Asian populations or ethnically diverse North American cohorts. To gain further insight into the pathogenesis of moyamoya, we examined clinical characteristics of a primarily white, Midwestern US population Retrospective analysis of patients with angiographically confirmed moyamoya disease evaluated at our institution was performed. Prevalence of comorbidities, cerebrovascular risk factors, and autoimmune diseases were compared with the general population. Ninety-four patients with moyamoya were evaluated; 72.3% were female. Ethnic composition was primarily white (85%). A significantly higher prevalence of autoimmune disease was seen, particularly type 1 diabetes mellitus (8.5% versus 0.4% in the general population) and thyroid disease (17.0% versus 8.0% in the institutional general patient population). Hyperlipidemia was also increased (27.7% versus 16.3% in the general population). This study of a unique, primarily white, Midwestern population of moyamoya patients demonstrates a significantly higher prevalence of autoimmune disease than in the general population. This supports a possible autoimmune component to the pathogenesis of moyamoya disease.

  2. Bilateral pleural effusion and interstitial lung disease as unusual manifestations of kikuchi-fujimoto disease: case report and literature review

    Directory of Open Access Journals (Sweden)

    Magdalena Fernandez-Martinez

    2010-11-01

    Full Text Available Abstract Background Kikuchi-Fujimoto's disease (KFD, also called histiocytic necrotizing lymphadenitis, is a rare, idiopathic and self-limited condition usually characterized by cervical lymphadenopathy and fever, most often affecting young patients. Aetiology is unknown. Differential diagnosis includes mainly malignant lymphoma, tuberculous lymphadenitis and systemic lupus erythematosus (SLE, so early diagnosis is crucial. Pleuropulmonary involvement due to isolated KFD has been seldom reported. Case Presentation a 32-year-old man, on treatment for iatrogenic hypothyroidism, was admitted due to high grade fever and painful cervical lymphadenopathies. KFD was diagnosed by lymph node biopsy. Some days after admission the patient got worse, he developed generalized lymphadenopathy, bilateral pleural effusion and interstitial lung disease. All of them resolved with prednisone and after two years of following up he remains asymptomatic and without evidence of any other associated disease. Conclusion Pleural effusion and interstitial lung disease are very uncommon manifestations of KFD. In our experience, treatment with oral prednisone was effective.

  3. Growth hormone-releasing hormone-producing pancreatic neuroendocrine tumor in a multiple endocrine neoplasia type 1 family with an uncommon phenotype.

    Science.gov (United States)

    Sala, Elisa; Ferrante, Emanuele; Verrua, Elisa; Malchiodi, Elena; Mantovani, Giovanna; Filopanti, Marcello; Ferrero, Stefano; Pietrabissa, Andrea; Vanoli, Alessandro; La Rosa, Stefano; Zatelli, Maria C; Beck-Peccoz, Paolo; Verga, Uberta

    2013-07-01

    The objective of this study was to describe a multiple endocrine neoplasia type 1 (MEN1) family characterized by primary hyperparathyroidism, in association with acromegaly because of ectopic growth hormone-releasing hormone (GHRH) secretion by a pancreatic neuroendocrine tumor in a young man and with a bronchial carcinoid in his mother. We investigate the clinical, radiological imaging, histopathologic findings, and therapy. An 18-year-old man successfully underwent subtotal parathyroidectomy for primary hyperparathyroidism. A subsequent genetic analysis showed a MEN1 gene mutation. Three years later, acromegaly because of ectopic GHRH secretion was diagnosed (pituitary MRI negative and elevated GHRH levels). A search for an ectopic tumor was unsuccessful and somatostatin analog therapy was started. Successively, scintigraphy with somatostatin analogs (68-Ga-DOTATOC-PET) showed three focal areas in the pancreatic tail. Distal pancreatectomy showed multiple pancreatic neuroendocrine tumors and hormonal status was normalized. Afterwards, the evaluation of the patient's mother, carrying the same mutation, indicated a primary hyperparathyroidism and a 4 cm lung mass. The patient underwent subtotal pneumonectomy and the histological analysis was consistent with the diagnosis of a typical bronchial carcinoid. In conclusion, an atypical phenotype may be recorded in MEN1 families, thus emphasizing the importance of the new imaging and surgical techniques in the diagnosis and treatment of such a rare disease.

  4. Pneumococcal Disease

    Science.gov (United States)

    ... Pneumococcal disease is a very serious infection that causes pneumonia, meningitis, and bloodstream infection (sepsis). About one million ... when someone gets pneumococcal disease? Pneumococcal disease can cause pneumonia, meningitis, or bloodstream infection. People with pneumococcal disease ...

  5. Autoimmune Diseases

    Science.gov (United States)

    ... autoimmune diseases are rare, while others, such as Hashimoto's disease, affect many people. Who gets autoimmune diseases? ... often occur on both sides of the body. Hashimoto's (hah-shee-MOH-tohz) disease (underactive thyroid) A ...

  6. [Pulmonary hypertension in rheumatic diseases].

    Science.gov (United States)

    Manganelli, P; Salaffi, F; Carotti, M; Delsante, G; Mozzani, F

    1999-03-01

    In rheumatic diseases (RD) pulmonary hypertension (PH) may result by either direct damage of the pulmonary arteries (isolated PH) or pulmonary interstitial fibrosis and other causes. PH is an important cause of morbidity and mortality in systemic sclerosis in which it is more frequently isolated in the limited cutaneous variant and secondary to interstitial fibrosis in the diffuse type. In isolated PH the main histopathological finding is an occlusive arteriopathy. The role of recurrent vasospasm ("lung Raynaud's phenomenon") is still being debated. In systemic lupus erythematosus, although uncommon, PH is being increasingly reported and may recognize multiple etiological factors including vasoconstriction, vasculitis, in-situ pulmonary thrombosis or chronic recurrent thromboembolism. PH may be a severe and often fatal complication of mixed connective tissue disease and dermato/polymyositis. PH may also be diagnosed in patients with rheumatoid arthritis, primary Sjögren's syndrome and primary antiphospholipid syndrome. Doppler echocardiography is the technique of choice for the evaluation of PH because it is nonivasive and allows serial determinations of the arterial pulmonary pressure. The therapy of PH associated with RD includes corticosteroids, immunosuppressive drugs, calcium-antagonists, ACE-inhibitors, anticoagulants, O2, prostacyclin or its stable analogue, iloprost. Carefully selected patients may benefit from single lung or heart-lung transplantation.

  7. Behcet's Disease

    Science.gov (United States)

    ... are here: Home / Types of Vasculitis / Behcet’s Disease Behcet’s Disease First Description Who gets Behcet’s Disease (the “typical” ... for Behcet’s Disease is Behcet’s syndrome . Who gets Behcet’s Disease (the “typical” patient)? Behcet’s disease is most common ...

  8. Liver transplantation in polycystic liver disease

    DEFF Research Database (Denmark)

    Krohn, Paul S; Hillingsø, Jens; Kirkegaard, Preben

    2008-01-01

    OBJECTIVE: Polycystic liver disease (PLD) is a rare, hereditary, benign disorder. Hepatic failure is uncommon and symptoms are caused by mass effects leading to abdominal distension and pain. Liver transplantation (LTX) offers fully curative treatment, but there is still some controversy about...... whether it is a relevant modality considering the absence of liver failure, relative organ shortage, perioperative risks and lifelong immunosuppression. The purpose of this study was to review our experience of LTX for PLD and to compare the survival with the overall survival of patients who underwent LTX...... from 1992 to 2005. MATERIAL AND METHODS: A retrospective study of the journals of 440 patients, who underwent 506 LTXs between 1992 and 2005, showed that 14 patients underwent LTX for PLD. All patients had normal liver function. Three were receiving haemodialysis and thus underwent combined liver...

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

    Directory of Open Access Journals (Sweden)

    Ineke Nederend

    2016-04-01

    Full Text Available 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.

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

    Science.gov (United States)

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

    2016-04-15

    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.

  11. Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management

    DEFF Research Database (Denmark)

    Larsen, Signe; Bendtzen, Klaus; Nielsen, Ole Haagen

    2010-01-01

    , metabolic, dermatologic (mucocutaneous), ophthalmologic, hepatobiliary, hematologic, thromboembolic, urinary tract, pulmonary, and pancreatic extraintestinal manifestations related to IBD. Articles were identified through search of the PubMed and Embase databases, the Cochrane Library, and the web sites......Abstract Extraintestinal manifestations occur rather frequently in inflammatory bowel disease (IBD), e.g. ulcerative colitis (UC) and Crohn's disease (CD). The present paper provides an overview of the epidemiology, clinical characteristics, diagnostic process, and management of rheumatic......', 'thromboembolism', and 'treatment'. The search was performed on English-language reviews, practical guidelines, letters, and editorials. Articles were selected based on their relevance, and additional papers were retrieved from their reference lists. Since some of the diseases discussed are uncommon, valid...

  12. An unusual cause of cervical lymphadenopathy: Kikuchi-Fujimoto disease

    Directory of Open Access Journals (Sweden)

    Mehmet Uluğ

    2012-03-01

    Full Text Available Kikuchi-Fujimoto disease (KFD, also known as histiocytic necrotizing lymphadenitis, is an uncommon clinical and pathologicalself-limited feature of benign prognosis that may mimic many other diseases diagnosed chiefly in youngadults. The etiology of the disease is unknown although several investigators postulate viral, parasitic and autoimmuneetiologies. The most common symptoms are cervical lymphadenopathy and fever. Diagnosis is usually rendered withexcisional biopsy of lymph nodes and through histopathological findings. Non-steroidal anti-inflammatory drugs areused for the treatment. In this report, two cases of KFD without any associated infectious and/or non-infectious conditionswere presented. J Microbiol Infect Dis 2012; 2(1: 21-25

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

    Science.gov (United States)

    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.

  14. Cole Disease Results from Mutations in ENPP1

    Science.gov (United States)

    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

    2013-01-01

    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. PMID:24075184

  15. Lyme disease: sudden hearing loss as the sole presentation.

    Science.gov (United States)

    Espiney Amaro, C; Montalvão, P; Huins, C; Saraiva, J

    2015-02-01

    Lyme disease is an uncommon tick-borne multisystemic infection caused by Borrelia burgdorferi. The most common clinical manifestation is erythema migrans. In this report, a very unusual presentation of this condition is described, in which sudden onset sensorineural hearing loss was the sole presenting symptom. Case report and review of English-language literature. A patient presented with sensorineural hearing loss, with no other symptoms or signs. Acute Lyme infection was detected by laboratory tests. Magnetic resonance imaging showed signs of labyrinthitis of the same inner ear. After hyperbaric oxygen and systemic antibiotic treatment, the patient showed total hearing recovery, and magnetic resonance imaging showed complete resolution of the labyrinthitis. To our knowledge, this is the first reported case of Lyme disease presenting only with sensorineural hearing loss. Borreliosis should be considered as an aetiological factor in sensorineural hearing loss. Adequate treatment may provide total recovery and prevent more severe forms of Lyme disease.

  16. Exanthema in Legionnaires' disease mimicking a severe cutaneous drug reaction.

    Science.gov (United States)

    Ziemer, M; Ebert, K; Schreiber, G; Voigt, R; Sayer, H G; Marx, G

    2009-07-01

    Legionnaires' disease is an acute bacterial infection, generally caused by Legionella pneumophila, which primarily involves the lower respiratory tract, although it is often associated with multisystemic extrapulmonary features. Cutaneous features are very uncommon and may include erythematous or petechial, macular or maculopapular lesions. We report a male patient who expressed all features of a severe lobular pneumonia. Over the course of the disease the patient developed a livid erythematous, maculopapular exanthem rapidly extending over the entire body. Given the rapid development and target-like appearance of the skin lesions with extensive skin involvement and blister formation, the initial diagnosis was that of a severe cutaneous drug reaction. However, histological examination of biopsy did not confirm this diagnosis, but instead was suspicious for a viral exanthem or a more aggressive inflammatory response due to sensitization to bacterial antigens. L. pneumophila infection was verified during the course of the disease.

  17. Averting the legacy of kidney disease – focus on childhood

    Directory of Open Access Journals (Sweden)

    Julie R. Ingelfinger

    2016-03-01

    Full Text Available 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 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 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.

  18. Valve Disease

    Science.gov (United States)

    ... See also on this site: Diseases of the Mitral Valve Diseases of the Aortic Valve Diseases of the Tricuspid ... most invasive option for the treatment of valve disease. During surgery, ... defects of the mitral valve. Replacement is used to treat any diseased ...

  19. Cranial fasciitis of childhood (CFC): an unusual clinical case of a rare disease.

    Science.gov (United States)

    Zavras, Niki; Poddighe, Dimitri

    2017-09-13

    Cranial fasciitis of childhood (CFC) is a very uncommon tumour of the scalp, which is almost exclusively observed in the first years of life. It is a benign proliferation of fibroblasts, but its rapid growth rate may resemble a malignant disease. This disease may be suspected from clinical and radiological features, but a definitive diagnosis may be achieved only by pathological examination. We report a case whose onset was in late childhood and whose clinical and radiological characteristics were atypical. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  20. Type 1 autoimmune pancreatitis: case scenario and review of the disease.

    Science.gov (United States)

    Donet, Jean A; Czul, Frank; Peña, Nathalie A; Barkin, Jamie S

    2016-01-01

    Autoimmune pancreatitis (AIP) is an uncommon disease that represents a diagnostic challenge unless it is considered as a cause of acute pancreatitis, pancreatic exocrine insufficiency and a pancreatic mass. This entity is under diagnosed and successful medical therapy is available. In this paper, we will describe a case of a 59 year-old, Hispanic woman diagnosed with autoimmune pancreatitis, a disease previously believed to affect typically older men. We will review the definition, types, clinical manifestations, radiological features, serology, histopathological findings, treatment strategies and diagnostic criteria of autoimmune pancreatitis.

  1. Coronary artery bypass grafting following simultaneous treatment of abdominal aortic aneurysm and peripheral arterial disease.

    Science.gov (United States)

    Temizkan, Veysel; Ugur, Murat; Alp, Ibrahim; Ucak, Alper; Yedekci, Erturk; Yilmaz, Ahmet Turan

    2014-01-01

    Atherosclerosis might affect all arterial segments of the vascular system, thus peripheral arterial disease (PAD) accompanying coronary artery disease (CAD) is not uncommon. In addition to this coexistence, abdominal aortic aneurysm (AAA) is frequently associated with CAD. Although treatment strategies of CAD and PAD or CAD and AAA has been reported previously, treatment of these three pathologies has not been reported. The management of a therapeutic strategy is important for avoiding perioperative mortality and morbidity in CAD associated with AAA and PAD. We are reporting our simultaneous treatment strategy of three pathologies with endovascular AAA repair, stent implantation into the superficial femoral artery (SFA) and coronary artery bypass grafting (CABG).

  2. Characterization of a community cluster of group a streptococcal invasive disease in Maui, Hawaii.

    Science.gov (United States)

    Erdem, Guliz; Abe, Lucienne; Kanenaka, Rebecca Y; Pang, Lorrin; Mills, Kristin; Mizumoto, Carla; Yamaga, Karen; Effler, Paul V

    2004-07-01

    A community cluster of severe group A streptococcal skin infections occurred in Maui, Hawaii with 3 fatal cases of necrotizing fasciitis in 2002. emm types 1, 12, 58, 74, 85 and 109 were identified from 8 patients. emm types 74 and 109 have not been previously described in the United States according to the Centers for Disease Control and Prevention database. The identification of uncommon emm types suggested that group A streptococcal sero-types in Hawaii are different from those in the continental United States and can result in serious disease.

  3. Diffuse Caroli’s disease with atypical presentation: a case report

    Science.gov (United States)

    Acioli, Maíra Lima; Costa, Lawrence Raizama Gonçalves; de Miranda Henriques, Mônica Souza

    2014-01-01

    This paper describes a case of Caroli’s disease in a female patient aged 32, who complained of nonspecific abdominal pain without cholesthasis or cholangitis. Liver resonance shows segment saccular dilations closely connected to intrahepatic biliary ducts, that differ from the Caroli’s syndrome, which is more common and consists of multiple intrahepatic cystic dilatations, associated to congenital hepatic fibrosis. This patient has a congenital anomaly with an uncommon oligosymptomatic form of Caroli’s disease that should be included in the differential diagnosis of patients with recurrent abdominal pain. PMID:24714420

  4. Ultrasound-guided percutaneous drainage and sclerotherapy in a patient with isolated autosomal dominant polycystic liver disease

    Directory of Open Access Journals (Sweden)

    Ana Barbado-Cano

    2015-03-01

    Full Text Available Isolated polycystic liver disease (IPLD is a rare genetic condition characterized by the presence of multiple liver cysts with no association with polycystic kidney disease. Most patients are asymptomatic and acute complications (cyst torsion, bleeding, infection are uncommon. Imaging techniques, including abdominal ultrasounds, computerized axial tomography, and magnetic resonance imaging, represent a vital diagnostic modality. They are also useful for therapy support in this disease. Below we report a peculiar case of a female patient recently diagnosed with IPLD who, having received treatment with ultrasound-guided percutaneous drainage and sclerotherapy for a giant liver cyst, showed symptom and laboratory improvement.

  5. AUTOIMMUNE EPIDERMAL BLISTERING DISEASES

    Directory of Open Access Journals (Sweden)

    Ana Maria Abreu Velez

    2013-11-01

    Full Text Available Autoimmune bullous skin diseases (ABDs are uncommon, potentially fatal diseases of skin and mucous membranes which are associated with deposits of autoantibodies and complement against distinct molecules of the epidermis and dermal/epidermal basement membrane zone (BMZ. These autoantibodies lead to a loss in skin molecular integrity, which manifests clinically as formation of blisters or erosions. In pemphigus vulgaris, loss of adhesion occurs within the epidermis. The pioneering work of Ernst H. Beutner, Ph.D. and Robert E. Jordon, M.D. confirmed the autoimmune nature of these diseases. Walter F. Lever, M.D. contributed significantly to our understanding of the histopathologic features of these diseases. Walter Lever, M.D. and Ken Hashimoto, M.D. contributed electron microscopic studies of these diseases, especially in pemphigus vulgaris and bullous pemphigoid. In bullous pemphigoid (BP, linear IgA bullous dermatosis, epidermolysis bullosa acquisita (EBA and dermatitis herpetiformis (DH, loss of adhesion takes place within or underneath the BMZ. Classic EBA demonstrates extensive skin fragility; DH is commonly associated with gluten-sensitive enteropathy, and manifests clinically with pruritic papulovesicles on the extensor surfaces of the extremities and the lumbosacral area. The clinical spectrum of bullous pemphigoid includes tense blisters, urticarial plaques, and prurigo-like eczematous lesions. Pemphigoid gestationis mostly occurs during the last trimester of pregnancy, and mucous membrane pemphigoid primarily involves the oral mucosa and conjunctivae and leads to scarring. Linear IgA bullous dermatosis manifests with tense blisters in a „cluster of jewels”-like pattern in childhood (chronic bullous disease of childhood and is more clinically heterogeneous in adulthood. Many of the autoantigens in these disorders are known and have been well characterized. ABDs may be influenced by both genetic and exogenous factors. The diagnoses of

  6. Kawasaki Disease

    Science.gov (United States)

    Kawasaki disease is a rare childhood disease. It makes the walls of the blood vessels in the ... veins, and capillaries. No one knows what causes Kawasaki disease. Symptoms include High fever that lasts longer ...

  7. Whipple's Disease

    Science.gov (United States)

    ... way to prevent Whipple disease. Eating, Diet, and Nutrition A person with Whipple disease and malabsorption may need a diet high in calories and protein vitamins nutritional supplements People with Whipple disease should discuss their nutritional ...

  8. Celiac Disease

    Science.gov (United States)

    ... diabetes, rheumatoid arthritis, autoimmune thyroid or liver disease, Addison’s disease, or Sjogren’s syndrome.Have a genetic disorder such ... results will confirm that you have celiac disease. Diagnosis of dermatitis herpetiformis with a positive blood test ...

  9. Alzheimer's Disease

    Science.gov (United States)

    Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that ... higher if a family member has had the disease. No treatment can stop the disease. However, some ...

  10. Huntington's Disease

    Science.gov (United States)

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of ...

  11. Alzheimer Disease

    Science.gov (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Alzheimer Disease KidsHealth > For Kids > Alzheimer Disease Print A A ... slow it down. When Someone You Love Has Alzheimer Disease You might feel sad or angry — or both — ...

  12. Moyamoya Disease

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Moyamoya Disease Information Page Moyamoya Disease Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials ... Publications Definition Moyamoya disease is a rare, progressive cerebrovascular disorder caused ...

  13. Crohn's Disease

    Science.gov (United States)

    Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory ... small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an ...

  14. Wilson Disease

    Science.gov (United States)

    ... Liver Foundation March of Dimes National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Wilson Disease Association See all related organizations Publications Order NINDS Publications Definition Wilson disease (WD) is a rare inherited disorder ...

  15. Angular cheilitis as the initial sign of Crohn’s disease in children

    Directory of Open Access Journals (Sweden)

    Nuzul Rezki Ramadhani

    2016-06-01

    Full Text Available Crohn’s disease (CD is a chronic inflammatory process of gastrointestinal tract and originally described as a disorder of the smallest intestine caused by an inappropiate mucosal inflammatory response to intestinal bacteria in genetically predisposed host. Oral manifestation are important clinical finding in Crohn’s disease especially in a pediatric patient. This review highlight oral manifestation of gastrointestinal disorder with angular cheilitis as the initial sign of CD in children. Angular cheilitis are considered to be an important extraintestinal manifestation an presenting as the initial sign of Crohn’s disease in children, although uncommon but can be an important clue in the diagnosis of CD before the development of gastrointestinal symptoms. Angular cheilitis may occasionally occur before the onset of gastrointestinal  disease be present during the disease process or persist even even after the disease has resolved.

  16. Ribbing disease

    Directory of Open Access Journals (Sweden)

    Mukkada Philson

    2010-01-01

    Full Text Available Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc.

  17. Reportable diseases

    Science.gov (United States)

    ... Listeriosis Lyme disease Malaria Measles Meningitis (meningococcal disease) Mumps Novel influenza A virus infections Pertussis Plague Poliomyelitis Poliovirus infection, nonparalytic Psittacosis ...

  18. Celiac disease presenting as rickets in Saudi children.

    Science.gov (United States)

    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.

  19. Introducing Polyautoimmunity: Secondary Autoimmune Diseases No Longer Exist

    Science.gov (United States)

    Rojas-Villarraga, Adriana; Amaya-Amaya, Jenny; Rodriguez-Rodriguez, Alberto; Mantilla, Rubén D.; Anaya, Juan-Manuel

    2012-01-01

    Similar pathophysiological mechanisms within autoimmune diseases have stimulated searches for common genetic roots. Polyautoimmunity is defined as the presence of more than one autoimmune disease in a single patient. When three or more autoimmune diseases coexist, this condition is called multiple autoimmune syndrome (MAS). We analyzed the presence of polyautoimmunity in 1,083 patients belonging to four autoimmune disease cohorts. Polyautoimmunity was observed in 373 patients (34.4%). Autoimmune thyroid disease (AITD) and Sjögren's syndrome (SS) were the most frequent diseases encountered. Factors significantly associated with polyautoimmunity were female gender and familial autoimmunity. Through a systematic literature review, an updated search was done for all MAS cases (January 2006–September 2011). There were 142 articles retrieved corresponding to 226 cases. Next, we performed a clustering analysis in which AITD followed by systemic lupus erythematosus and SS were the most hierarchical diseases encountered. Our results indicate that coexistence of autoimmune diseases is not uncommon and follows a grouping pattern. Polyautoimmunity is the term proposed for this association of disorders, which encompasses the concept of a common origin for these diseases. PMID:22454759

  20. [Nonpharmacological treatment procedures for Parkinson's disease].

    Science.gov (United States)

    Witt, K; Kalbe, E; Erasmi, R; Ebersbach, G

    2017-04-01

    Nonpharmacological treatment strategies in Parkinson' disease include heterogeneous treatment modalities, such as physiotherapy, occupational therapy, speech therapy, cognitive training and deep brain stimulation as well as noninvasive brain stimulation strategies. Even in the early stages of Parkinson's disease nonpharmacological interventions, such as active exercise therapy and speech therapy can be indicated taking the individual symptoms of a patient into account. Mild cognitive deficits are frequently detected in the course of the disease and progression of these disorders to dementia in the advanced stages of the disease is not uncommon. The starting point for a cognitive training, training strategy and training frequency is unknown and currently under investigation. Deep brain stimulation is an established treatment modality, which should be considered when motor fluctuations cannot be adequately controlled by pharmacological treatment. This therapeutic option depends on patient-specific needs and has to be managed by a multiprofessional team. Non-invasive neurostimulation techniques, such as transcranial magnetic stimulation and transcranial direct current stimulation are experimental tools and cannot currently be recommended for general use.

  1. The challenge of treating orphan disease.

    Science.gov (United States)

    Dias, Carlos; Selmi, Carlo

    2014-12-01

    Uncommon or orphan diseases are less frequently addressed in mainstream medical journals and, as a consequence, their understanding and clinical recognition may rely on case series or anecdotal data with limited guidelines and management directions. The study of selected underrepresented autoimmune and allergy conditions is the subject of the present issue of Clinical Reviews in Allergy and Immunology to provide peculiar perspectives on common and rare themes. First, allergy remains a major concern for physicians worldwide despite the limited developments over the past years, particularly for antigens such as mite or Alternaria alternata, and due to the increasing incidence of drug hypersensitivity. Second, the female predominance of autoimmune diseases such as systemic sclerosis is well recognized but enigmatic, and a unifying hypothesis remains elusive. Third, the management of conditions triggered by infectious agents as in Guillain-Barre syndrome or mixed cryoglobulinemia is challenging, and clinical guidelines are needed in the setting of infections and autoimmunity. Fourth, gamma-delta T cells represent major players in innate immunity and are the subject of extensive studies in autoimmune diseases to provide new therapeutic targets for disease prevention or modulation in the near future. Ultimately, we acknowledge the major developments in the broad fields of rheumatology and immunology and expect that microbiota definition, epigenetics studies, and microRNA analysis will provide new exciting avenues toward the understanding and treatment of chronic and acute inflammation.

  2. Adolescent Girls' Zines: Uncommon Pages and Practices.

    Science.gov (United States)

    Sinor, Jennifer

    Stephen Duncombe has written one of the only book-length studies examining the phenomenon of "zines.""Note from Underground: Zines and the Politics of Alternative Culture" traces the historical rise in zine popularity beginning with fanzines of the 1930s, fueled in the 1970s by the punk movement, and reaching a height in the 1990s. In his…

  3. Piriformis ganglion: An uncommon cause of sciatica.

    Science.gov (United States)

    Park, J H; Jeong, H J; Shin, H K; Park, S J; Lee, J H; Kim, E

    2016-04-01

    Sciatica can occur due to a spinal lesion, intrapelvic tumor, diabetic neuropathy, and rarely piriformis syndrome. The causes of piriformis syndrome vary by a space-occupying lesion. A ganglionic cyst can occur in various lesions in the body but seldom around the hip joint. In addition, sciatica due to a ganglionic cyst around the hip joint has been reported in one patient in Korea who underwent surgical treatment. We experienced two cases of sciatica from a piriformis ganglionic cyst and we report the clinical characterics and progress after non-operative treatment by ultrasonography-guided aspiration. The two cases were diagnosed by magnetic resonance imaging and were treated by ultrasonography-guided aspiration. We followed the patients for more than 6months. The symptoms of piriformis syndrome from the ganglion improved following aspiration and this conservative treatment is a treatment method that can be used without extensive incision or cyst excision. Level IV historical case. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  4. Splenosis: an uncommon differential diagnosis in gynecology.

    Science.gov (United States)

    Anrique, Denisse; Anton, Anja; Krüger, Karsten; Niedobitek-Kreuter, Gesine; Ebert, Andreas D

    2013-01-01

    Splenosis consists of ectopic functioning splenic tissue that can be located anywhere within the abdomen or pelvis. It is a benign condition usually found incidentally and is usually asymptomatic. The need for therapy is controversial, and treatment is suggested only in symptomatic cases, primarily those related to pelvic or abdominal implants. Copyright © 2013 AAGL. Published by Elsevier Inc. All rights reserved.

  5. [Epithelioid hemangioendothelioma: an uncommon liver tumor].

    Science.gov (United States)

    Pareja, Eugenia; Cortés, Miriam; Rayon, Miguel; Moya, Angel; Mir, Jose

    2010-01-01

    We report the case of a female patient who was referred to our unit because of a solid liver tumor, suggestive of metastasis. After biopsy, the patient was diagnosed with epithelioid hemangioendothelioma of the liver. Epithelioid hemangioendothelioma is a rare entity with an unpredictable, potentially fatal, clinical course and outcome. Due to its rarity, this entity should be considered when a solitary hepatic lesion is detected and should be included in the differential diagnosis with liver metastases. We highlight the infrequency of this tumor, its presentation as a solitary hepatic lesion and the indication of surgical treatment. We describe the clinical and pathological characteristics of epithelioid hemangioendothelioma of the liver and report a new case of this entity. The distinct therapeutic options are discussed. Copyright 2010 Elsevier España, S.L. All rights reserved.

  6. Coexistence of pheochromocytoma with uncommon vascular lesions

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Background: Pheochromocytoma/paragangliomas have been described to be associated with rare vascular abnormalities like renal artery stenosis. Coexistence of physiologically significant renal artery lesions is a compounding factor that alters management and prognosis of pheochromocytoma patients. Apart from individual case reports, data on such association in Indian population is not available. The aim of this study is to find the nature and prevalence of associated vascular abnormalities. Materials and Methods: From 1990 to 2010, a total of 50 patients were diagnosed with pheochromocytoma/paragangliomas. Hospital charts of these patients were reviewed retrospectively to identify those with unusual vascular abnormalities. Available literature was also reviewed. Results: Of the 50 patients with pheochromocytoma, 7 (14% had coexisting vascular lesions including renal artery stenosis in 4, aortoarteritis in 1, aortic aneurysm in 1 and inferior vena cava thrombosis in 1. Pheochromocytoma was adrenal in 42 and extra adrenal in 8. Laparoscopic adrenalectomy was done in the patients. One patient with renal artery stenosis due to intimal fibrosis was subjected to percutaneous balloon angioplasty; the other three improved after adrenalectomy and lysis of fibrous adhesive bands. The patient with aortoarteritos was treated with oral steroids. Inferior vena cava thrombosis was reversed with anticoagulants. The patient with abdominal aortic aneurysm was advised for annual follow-up on account of its size of 4.5 cm and asymptomatic presentation. Conclusion: There are multiple mechanisms that can lead to renal artery stenosis and other vascular abnormalities in a case of pheochromocytoma. A high index of suspicion is necessary to enable both entities to be diagnosed preoperatively and allow proper planning of surgical therapy. Incomplete diagnosis may lead to persistent hypertension postoperatively in a case of associated renal artery stenosis.

  7. Uncommon leaks revealed by low flow anaesthesia

    African Journals Online (AJOL)

    Adele

    TRAVEL FELLOWSHIP. Low flow techniques provide a long duration of reliable anaesthesia at minimal cost. The use of low flows requires a leak free circuit and anaesthetic machine. Should leaks occur during low flow anaesthesia, these will be immediately obvious and rapidly rectified. Anaesthetic machines have been ...

  8. Ischiogluteal bursitis: an uncommon type of bursitis

    Energy Technology Data Exchange (ETDEWEB)

    Van Mieghem, Isabelle M.; Boets, An; Sciot, Raf; Van Breuseghem, Iwan [Department of Radiology, University Hospitals, Catholic University Leuven, Leuven (Belgium)

    2004-07-01

    Ischiogluteal bursitis is a rare, infrequently recognized soft tissue mass of the buttock region. Of importance is the radiological differential diagnosis with other benign and malignant soft-tissue tumors. We describe the imaging findings of bursitis. (orig.)

  9. Uncommon scintigraphic findings of multiple hepatic hemangiomas

    Energy Technology Data Exchange (ETDEWEB)

    el-Desouki, M.; Joharjy, I.A.; al-Muzrakchi, A.M.; Bashi, S.A. (King Saud Univ., Riyadh, (Saudi Arabia))

    1991-03-01

    Tc-99m labeled red blood cell scintigraphy is a valuable, noninvasive technique for differentiating hepatic hemangioma from other lesions by demonstrating a 'perfusion blood pool mismatch.' The characteristic finding on dynamic CT scan of peripheral and subsequent central enhancement is not usually seen on Tc-99m RBC angiography, probably due to rapid mixing and dilution of the radionuclide and low resolution of the gamma camera. A case of multiple hepatic hemangioma is presented in which Tc-99m RBC dynamic angiography demonstrated peripheral enhancement with subsequent central filling. In addition, delayed static images showed more hepatic lesions.

  10. Chronic Adult Scurvy with Uncommon Skin Lesions

    Directory of Open Access Journals (Sweden)

    Mohan Singh

    1986-01-01

    Full Text Available Chronic Scorbutic features as isolated deficiency were seen in an uneducated food faddist female. Unusual, sclerodermatous and discolored lesions on both legs we I re accompanied by typical perifollicular haemorrhages, follicular hyporkeratosis, corkscrew hairs, hypertrophic spongy bleeding gums and arthritis. Lesions were reversible on administration of 1000 mg ascorbic acid a day.

  11. Herpetic esophagitis: An uncommon cause of dysphagia

    National Research Council Canada - National Science Library

    Rinkesh K Bansal; Piyush Ranjan

    2014-01-01

    Herpes simplex esophagitis usually occurs in immune-compromised patients. We report a case of 44 year-old lady without any immune deficient state, who presented with dysphagia and retrosternal pain...

  12. Herpetic esophagitis: An uncommon cause of dysphagia

    Directory of Open Access Journals (Sweden)

    Rinkesh K Bansal

    2014-01-01

    Full Text Available Herpes simplex esophagitis usually occurs in immune-compromised patients. We report a case of 44 year-old lady without any immune deficient state, who presented with dysphagia and retrosternal pain. Upper GI endoscopy revealed multiple punched out ulcers in esophagus. Biopsy from these ulcers revealed intranuclear eosinophilic inclusion bodies and multinucleated epithelial giant cells suggestive of herpetic esophagitis. Serum HSV-1 IgM antibodies was positive. Dysphagia improved on treatment with acyclovir.

  13. Uncommon leaks revealed by low flow anaesthesia

    African Journals Online (AJOL)

    Adele

    5. Awareness was prevented by incremental boluses of intravenous hypnotic. Anaesthesia circuits in use in Europe, the USA and Australasia are increasingly becoming single use items. This is increasingly the case in South African private hospitals. Many government hospitals, however, due to cost constraints, make use of ...

  14. Identification of uncommon objects in containers

    Science.gov (United States)

    Bremer, Peer-Timo; Kim, Hyojin; Thiagarajan, Jayaraman J.

    2017-09-12

    A system for identifying in an image an object that is commonly found in a collection of images and for identifying a portion of an image that represents an object based on a consensus analysis of segmentations of the image. The system collects images of containers that contain objects for generating a collection of common objects within the containers. To process the images, the system generates a segmentation of each image. The image analysis system may also generate multiple segmentations for each image by introducing variations in the selection of voxels to be merged into a segment. The system then generates clusters of the segments based on similarity among the segments. Each cluster represents a common object found in the containers. Once the clustering is complete, the system may be used to identify common objects in images of new containers based on similarity between segments of images and the clusters.

  15. Uncommon Locations and Presentations of Hydatid Cyst

    African Journals Online (AJOL)

    most commonly occurs in the liver (55-70%) followed by the lung (18-35%); the two organs can be affected simultaneously in about 5-13% of cases. Incidence of unusual sites is about. 8-10%. Incidence of HD involving the spleen, kidney, peritoneal cavity, skin and muscles is about 2% each and incidence of the heart, brain ...

  16. CASE REPORT Uncommon Pathogen Bacillus Cereus Causing ...

    African Journals Online (AJOL)

    2018-01-01

    Jan 1, 2018 ... a Child. Prastiya Indra Gunawan1*, Leny Kartina1, Dwiyanti Puspitasari1, Erny Erny2. OPEN ACCESS. Citation: PrastiyaIndra Gunawa, Leny. Kartina, DwiyantiPuspitasari ... secondary to middle ear infection, meningitis, brain surgery, ... classic clinical syndrome is an acute febrile illness punctuated by.

  17. ORIGINAL ARTICLES Overt hypoadrenalism is uncommon in ...

    African Journals Online (AJOL)

    2003-05-23

    May 23, 2003 ... 15. Grinspoon S, Biller BMK. Laboratory assessment of adrenal insufficiency. J Clin Endocrinol. Metab 1994; 79:923-931. 16. Lutz A, Stojkovich M, Schmidt M, et al. Adrenocortical function in patients with macrometastases of the adrenal gland. Eur J Endocrino/2000; 143: 91-97. 17. Clifton F, Mountain MD.

  18. An uncommon presentation of hexosaminidase deficiency

    Directory of Open Access Journals (Sweden)

    Iype Mary

    2006-01-01

    Full Text Available Focal muscular atrophy (FMA can occur due to several causes. We report three cases of FMA associated with deficiency of hexosaminidase A. The serum level of hexosaminidase A was assayed in seven patients with FMA without any definite aetiology identified over a period of two years. Three cases of FMA showed deficiency of hexosaminidase A. All these patients had clinical features of isolated lower motor neurone involvement in one limb without any evidence of involvement of the rest of the neuraxis. Detailed laboratory tests were negative. Electromyography confirmed neurogenic involvement without any evidence of radiculopathy or neuropathy. Hexosaminidase deficiency as a possible association for FMA is highlighted.

  19. Warty Carcinoma Penis: An Uncommon Variant.

    Science.gov (United States)

    Thapa, Sushma; Ghosh, Arnab; Shrestha, Santosh; Ghartimagar, Dilasma; Narasimhan, Raghavan; Talwar, O P

    2017-01-01

    Penile carcinoma frequency varies widely in different parts of the world and comprises 1-10% of all the malignancies in males. Majority of the cases of penile carcinoma are squamous cell carcinoma of penis comprising 60% to 70% of all cases. Warty carcinoma of penis is an unusual neoplasm and a variant of penile squamous cell carcinoma comprising 5%-10% of all the variants. The other histological variants include basaloid, verrucous, papillary, sarcomatous, mixed, and adenosquamous carcinoma. The various histological entities with an exophytic papillary lesions including warty carcinoma are together referred to as the "verruciform" group of neoplasms. The warty carcinoma has to be differentiated from these lesions and is typically distinguished by histological features of hyperkeratosis, arborescent papillomatosis, acanthosis, and prominent koilocytosis with nuclear pleomorphism. We present a case of 65-year-old male with growth measuring 6 × 4 cm in the penis who underwent total penectomy and was diagnosed as warty carcinoma penis.

  20. Uncommon Locations and Presentations of Hydatid Cyst

    African Journals Online (AJOL)

    Kashmir. Infestation by Echinococcus granulosus in humans most commonly occurs in the liver (55-70%) followed by the lung (18-35%); the two organs can be affected simultaneously in about 5-13% of cases. Incidence of unusual sites is about. 8-10%. Incidence of HD involving the spleen, kidney, peritoneal cavity, skin ...

  1. Uncommon Caring: Primary Males and Implicit Judgments.

    Science.gov (United States)

    King, James R.

    The caring and nurturing of children, which characterize primary education culture, have tended to shape a public perception of primary teaching as "women's work." Several social factors influence men's underrepresentation in the profession of primary education, such as parents not wanting their children exposed to "soft"…

  2. Uncommon Etiology for Seizure: Cerebral Hyperperfusion Syndrome

    Directory of Open Access Journals (Sweden)

    Mohankumar Kurukumbi

    2017-01-01

    Full Text Available Cerebral hyperperfusion syndrome (CHS is a rare life-threatening complication of carotid endarterectomy (CEA and carotid artery stenting (CAS for carotid artery stenosis. The incidence varies between 0 and 3%, depending on the severity of the stenosis, perioperative hypertension, and contralateral carotid stenosis. This case report reports a 53-year-old female patient presenting with decreased alertness and multiple tonic-clonic seizures, in the background of bilateral CEA. She was found to have bilateral carotid stenosis. Her left CEA was performed three months prior and right CEA was four days prior to her current presentation with seizures. After bilateral CEA, the imaging showed extensive pathologic process involving primarily the subcortical white matter and overlying cortex, more on the right cerebral hemisphere. On follow-up six weeks later, she reported no recurrent seizures and imaging showed decrease in abnormal signal intensity of the grey and white matter. This was indicative of near complete resolution of hyperperfusion damage. CHS is a rare complication due to the loss of autoregulation of the cerebrovascular system and increased blood flow status after bilateral CEA. This case is reported because of a rare and unique presentation of seizures in the background of bilateral CEA.

  3. Uncommon Etiology for Seizure: Cerebral Hyperperfusion Syndrome.

    Science.gov (United States)

    Kurukumbi, Mohankumar; Truong, Ahn; Pirsaharkhiz, Naghemeh

    2017-01-01

    Cerebral hyperperfusion syndrome (CHS) is a rare life-threatening complication of carotid endarterectomy (CEA) and carotid artery stenting (CAS) for carotid artery stenosis. The incidence varies between 0 and 3%, depending on the severity of the stenosis, perioperative hypertension, and contralateral carotid stenosis. This case report reports a 53-year-old female patient presenting with decreased alertness and multiple tonic-clonic seizures, in the background of bilateral CEA. She was found to have bilateral carotid stenosis. Her left CEA was performed three months prior and right CEA was four days prior to her current presentation with seizures. After bilateral CEA, the imaging showed extensive pathologic process involving primarily the subcortical white matter and overlying cortex, more on the right cerebral hemisphere. On follow-up six weeks later, she reported no recurrent seizures and imaging showed decrease in abnormal signal intensity of the grey and white matter. This was indicative of near complete resolution of hyperperfusion damage. CHS is a rare complication due to the loss of autoregulation of the cerebrovascular system and increased blood flow status after bilateral CEA. This case is reported because of a rare and unique presentation of seizures in the background of bilateral CEA.

  4. Uncommon Etiology for Seizure: Cerebral Hyperperfusion Syndrome

    OpenAIRE

    Mohankumar Kurukumbi; Ahn Truong; Naghemeh Pirsaharkhiz

    2017-01-01

    Cerebral hyperperfusion syndrome (CHS) is a rare life-threatening complication of carotid endarterectomy (CEA) and carotid artery stenting (CAS) for carotid artery stenosis. The incidence varies between 0 and 3%, depending on the severity of the stenosis, perioperative hypertension, and contralateral carotid stenosis. This case report reports a 53-year-old female patient presenting with decreased alertness and multiple tonic-clonic seizures, in the background of bilateral CEA. She was found t...

  5. Tuberculous Dactylitis: An Uncommon Presentation of Skeletal ...

    African Journals Online (AJOL)

    . The vertebrae are more commonly affected. The bones of the hands are more affected than the bones of the feet. The term “spina ventosa” has been used to describe this disorder because of its radiographic features of cystic expansion of the ...

  6. West Virginia's Wetlands. Uncommon, Valuable Wildlands.

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This booklet summarizes the most up-to-date information on West Virginia's wetlands for the general public. It provides brief descriptions of the state's wetlands,...

  7. Orgasmic cephalgia: an uncommon presentation | Eghwrudjakpor ...

    African Journals Online (AJOL)

    Background: Orgasmic cephalgia is rare; but it is likely that its prevalence is underestimated because of patients\\' arrière pensée when it comes to disclosing personal information concerning their sexual activities. Aim: To report a case of orgasmic cephalgia in a 34-year-old housewife. Method: All information was obtained ...

  8. Uncommon mixed outbreak of pneumococcal and meningococcal ...

    African Journals Online (AJOL)

    Objective: The Jirapa District in Ghana falls within the African meningitis belt where over 500 million people are at risk of epidemic meningitis. The district suffered an outbreak of Neisseria meningitides, W (NMW) in 2012 and a mixed outbreak of Streptococcus pneumonia and NMW in early 2016. We investigated the ...

  9. An uncommon but lethal poisoning – Amitraz

    Directory of Open Access Journals (Sweden)

    Joydeep Chakraborty

    2011-08-01

    Full Text Available Amitraz, a centrally acting alpha-2 adrenergic agonist, isincreasingly being used for treatment of ectoparasiticinfestation in cattle. Its effects in humans may mimicorganophosphate poisoning. We report a case of poisoningafter suicidal ingestion of Amitraz. The patient presented ina deeply comatose state with respiratory depression,bradycardia and mydriasis (instead of miosis, the morecommon presentation in previous reports. He recoveredcompletely within 24 hours with adequate supportivemeasures. The importance of this case report is highlightedby the increasing use of this compound, the life-threateningpresentation, the excellent prognosis with early recognitionand supportive management and the limited humantoxicological data.

  10. Adenomatoid odontogenic tumor, an uncommon tumor

    Directory of Open Access Journals (Sweden)

    K Vasudevan

    2012-01-01

    Full Text Available Here we report a case of adenomatoid odontogenic tumor (AOT in the maxilla in a young girl aged 14 years and its surgical management. We also review the literature and variations in the nomenclature and classifications of this interesting tumor. The review of literature gives an interesting picture regarding terminologies in the past and dilemma in classifying this tumor. The introduction of the name adenomatoid odontogenic tumour has resulted in the simpler and fruitful surgical management like enucleation and curettage with no reports of recurrences. In the past, similar lesion with the terminology like adeno ameloblastoma has resulted in unnecessary mutilating surgery. The conflicting views whether the lesion is being neoplasm or an anomalous hamartomatous growth is also being discussed.

  11. CASE REPORT Uncommon Pathogen Bacillus Cereus Causing ...

    African Journals Online (AJOL)

    2018-01-01

    Jan 1, 2018 ... ABSTRACT. BACKGROUND: Subdural empyema (SDE) in children is a severe intracranial infection. Many pathogens can cause SDE. CASE DETAILS: In this articlewe present a 15-month old. Indonesian boy diagnosed as SDE based on the clinical symptoms and neuroimaging. A complete blood count ...

  12. Uncommon Etiology of Chest Pain: Pulmonary Sequestration

    Directory of Open Access Journals (Sweden)

    Haider, Asghar

    2013-11-01

    Full Text Available Chest pain is a common presenting symptom in the emergency department. After ruling out emergent causes, emergency physicians need to identify and manage less commonly encountered conditions. Pulmonary sequestration (PS is a rare congenital condition involving pulmonary parenchyma. In PS, a portion of non-functional lung tissue receives systemic blood supply from an anomalous artery. While most individuals with PS present in early life with symptoms of difficulty feeding, cyanosis, and dyspnea, some present later with recurrent pneumonia, hemoptysis, or productive cough. In this report, we present a case of PS in an adult with acute onset pleuritic chest pain. [West J Emerg Med. 2013;14(6:638–639.

  13. Lemierre's syn- drome – the uncommon cold

    African Journals Online (AJOL)

    Kurt

    Medicine (Baltimore) 2002; 81: 458-465. 3. Screaton NJ, Ravenel JG, Lehner PJ, Heitzman. ER, Flower CDR. Lemierre syndrome: forgotten but not extinct – report of four cases. Radiology 1999; 213: 369-374. 4. Ma M, Jauch EC, Johnson MC. A case of. Lemierre's syndrome (abstract). Eur J Emerg. Med 2003; 10:139-142.

  14. Heart Diseases

    Science.gov (United States)

    ... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the ... of disability. There are many different forms of heart disease. The most common cause of heart disease ...

  15. Thoracic irradiation in Hodgkin's disease: Disease control and long-term complications

    Energy Technology Data Exchange (ETDEWEB)

    Tarbell, N.J.; Thompson, L.; Mauch, P. (Harvard Medical School, Boston, MA (USA))

    1990-02-01

    A total of 590 patients with Stage IA-IIIB Hodgkin's disease received mantle irradiation at the Joint Center for Radiation Therapy between April 1969 and December 1984 as part of their initial treatment. Recurrence patterns as well as pulmonary, cardiac and thyroid complications were analyzed. Pulmonary recurrence was more frequently seen in patients with large mediastinal adenopathy (LMA); 11% of patients with LMA recurred in the lung in contrast to 3.1% with small or no mediastinal disease, p = 0.003. Hilar involvement, when corrected for size of mediastinal involvement, was not predictive of lung relapse. Patients with LMA also had a high rate of nodal relapse above the diaphragm (40%) following radiation therapy (RT) alone as compared to similarly treated patients with small or no mediastinal adenopathy (6.5%), p less than 0.0001. This risk of nodal recurrence was greatly reduced (4.7%) for LMA patients receiving combined radiation therapy and chemotherapy (CMT), p less than 0.0001. Sixty-seven patients (11%) with hilar or large mediastinal involvement received prophylactic, low dose, whole lung irradiation. No decrease in the frequency of lung recurrence was seen with the use of whole lung irradiation. Radiation pneumonitis was seen in 3% of patients receiving radiation therapy alone. In contrast, the use of whole lung irradiation was associated with a 15% risk of pneumonitis, p = 0.006. The risk of pneumonitis was also significantly increased with the use of chemotherapy (11%), p = 0.0001. Cardiac complications were uncommon with pericarditis being the most common complication (2.2%). Thyroid dysfunction was seen in 25% of patients and appeared to be age-related. These data suggest that the long-term complications of mantle irradiation are uncommon with the use of modern radiotherapeutic techniques.

  16. [Social diseases, civilization diseases or lifestyle diseases?].

    Science.gov (United States)

    Betlejewski, Stansław

    2007-01-01

    In general, the development of civilization is viewed as a positive step for the well-being of the human species, leading to an increased duration and quality of life. The accelerated progress of civilization (mainly industrialization, urbanization and nutrition) has lead to new possibilities for adverse effects on human health. In former high civilization--like old Egypt, Greece, Roman, Chinese, Indian, Maya civilizations--the "modem civilization diseases" were unknown. Modem science through improved sanitation, vaccination and antibiotics as well as improved social and economical conditions, has eliminated the threat of death from most infectious diseases. In the years after World War II the social, economic and health conditions changed. Most deaths have resulted from heart disease, stroke, cancer and other diseases as a result of an inappropriate relationship of people with their environment and changed lifestyle. Lifestyle diseases are different from other diseases because they are potentially preventable and can be lowered with changes in diet, lifestyle and environment.

  17. Inflammatory diseases of the non-lactating female breasts.

    Science.gov (United States)

    Gopalakrishnan Nair, C; Hiran; Jacob, Pradeep; Menon, Riju R; Misha

    2015-01-01

    Chronic inflammatory diseases of the non-lactating breasts cause considerable difficulty in diagnosis and treatment. There is a spectrum of aetiological factors ranging from infection to autoimmune disorders. The disease causes considerable morbidity and psychological distress in relatively young females. The study aimed to analyse the spectrum of chronic disease and to formulate a treatment protocol. Female patients with histological confirmation of inflammatory disease of the breast in the non-lactational phase were included in the study. The patients were categorized based on histological findings supplemented with immunohistochemical staining with CD3 and CD20 antibodies. Out of 50 patients included in the study, 38 patients (76%) were diagnosed as idiopathic granulomatous mastitis (IGM) and 12 (24%) patients as periductal mastitis (PD). The possible aetiology of IGM was localized autoimmunity as evidenced by the infiltration of CD3 positive T lymphocyte. Systemic prednisolone was given for 6 months and 95.6% patients were disease-free after 24months. Out of 15 patients who did not receive prednisolone, only 2 patients were disease-free after 24 months (p = .003). Idiopathic granulomatous mastitis is an uncommon inflammatory disease of the non-lactating breast. The combination of limited surgical treatment and systemic prednisolone given for 6 months effectively controls the disease as well as prevents recurrence. Copyright © 2014. Published by Elsevier Ltd.

  18. MIXED HYALINE VASCULAR AND PLASMA CELL TYPE CASTLEMAN’S DISEASE: REPORT OF A CASE

    Directory of Open Access Journals (Sweden)

    F. Asgarani

    2006-05-01

    Full Text Available Castleman’s disease (angiofollicular lymphoid hyperplasia includes a heterogeneous group of lymphoproliferative disorders. The cause of this disease remains uncertain. There are two types of localized Castleman’s disease: the more common hyaline vascular and the plasma cell types. Mixed variant is an uncommon localized lesion in general population. The lesions can occur in any part of the body that contains lymphoid tissue, although seventy percent are found in the anterior mediastinum. We report a thirty years old boy with Castleman’s disease who presented with fever, anorexia, weight loss,sweating, anemia and abdominal mass. The histologic examination of the biopsy specimens revealed a mixed hyaline vascular and plasma cell type of Castleman’s disease.

  19. Crohn's disease and acute pancreatitis. A review of literature.

    Science.gov (United States)

    Jasdanwala, Sarfaraz; Babyatsky, Mark

    2015-03-20

    Crohn's disease, a transmural inflammatory bowel disease, has many well-known extra-intestinal manifestations and complications. Although acute pancreatitis has a higher incidence in patients with Crohn's disease as compared to the general population, acute pancreatitis is still relatively uncommon in patients with Crohn's disease. Patients with Crohn's disease are at an approximately fourfold higher risk than the general population to develop acute pancreatitis. The risk of developing acute pancreatitis is higher in females as compared to males. Acute pancreatitis can occur at any age with higher incidence reported in patients in their 20s and between 40-50 years of age. The severity and prognosis of acute pancreatitis in patients with Crohn's disease is the same as in general population. Acute pancreatitis can occur before onset of intestinal Crohn's disease, this presentation being more common in children than adults. It can also occur as the presenting symptom. However, most commonly it occurs after intestinal symptoms have manifest with a mean time interval between the initial presentation and development of acute pancreatitis being 2 years. There are several etiological factors contributing to acute pancreatitis in patients with Crohn's disease. It is not clear whether acute pancreatitis is a direct extra-intestinal manifestation of Crohn's disease; however, majority of the cases of acute pancreatitis in patients with Crohn's disease are due to GS and medications. Drugs used for the treatment of Crohn's disease that have been reported to cause acute pancreatitis include 5-ASA agents, azathioprine and 6 mercaptopurine, metornidazole and corticosteroids. Recent evidence has emerged correlating both type 1 and 2 autoimmune pancreatitis with Crohn's disease. Understanding the association between the two disease entities is key to effectively manage patients with Crohn's disease and acute pancreatitis.

  20. A Case of Multiple Sclerosis and Celiac Disease

    Directory of Open Access Journals (Sweden)

    H. Z. Batur-Caglayan

    2013-01-01

    Full Text Available Objectives. Multiple sclerosis (MS is an inflammatory autoimmune disorder of the central nervous system (CNS. Since a correlation between gluten intake and incidence of MS had been reported, the relationship of antigliadin antibodies and MS was debated. Case Report. We report the case of a 45-year-old female MS patient who is under interferon treatment. After seven years of monitoring, during her routine gastroenterological assessment, she was diagnosed with celiac disease. Conclusion. Beside the neurological manifestations that have been demonstrated in about 10% of celiac disease (CD patients, white-matter abnormalities in brain MRI are uncommon and controversial. But in the literature, MS seems to be associated with CD as in our patient. We suggest that MS patients with gastroenterological complaints should undergo an assessment for CD.

  1. Femoral neck fractures complicating gaucher disease in children

    Energy Technology Data Exchange (ETDEWEB)

    Goldman, A.B.; Jacobs, B.

    1984-09-01

    In normal children, fractures of the femoral neck are uncommon and accompany severe trauma and multiple injuries elsewhere in the skeleton. In children with Gaucher disease, a rare hereditary disorder of lipid metabolism, midcervical or basicervical fractures can occur with minor or no trauma and without other injury to the skeleton. Three children with Gaucher disease who developed pathologic fractures of the femoral neck are described. In all three, the fractures occurred between five and nine years of age, and the fracture lines passed through areas of abnormal bone characterized by poorly defined patches of increased and decreased density and cortical thinning along the medial femoral necks. In the affected hips, there was no evidence of avascular necrosis of the femoral heads at the time of injury. One child's fracture was preceeded by multiple bone 'crisis' localized to the proximal femora.

  2. Multifocal osteogenic sarcoma in Paget's disease

    Energy Technology Data Exchange (ETDEWEB)

    Vuillemin-Bodaghi, V. [Dept. of Bone and Joint Radiology, Lariboisiere Teaching Hospital, Paris (France); Service de Radiologie Osteoarticulaire, Hopital Lariboisiere, Paris (France); Parlier-Cuau, C.; Laredo, J.D. [Dept. of Bone and Joint Radiology, Lariboisiere Teaching Hospital, Paris (France); Cywiner-Golenzer, C.; Quillard, A. [Dept. of Pathology, Lariboisiere Teaching Hospital, Paris (France); Kaplan, G. [Dept. of Rheumatology, Saint Antoine Teaching Hospital, Paris (France)

    2000-06-01

    The most serious complication of Paget's disease is sarcomatous degeneration of pagetic bone. Multifocal sarcomatous degeneration occurs mainly in polyostotic Paget's disease. Multifocal Paget's sarcoma is uncommon and can arise in any site. We report two cases of synchronous multifocal sarcomatous degeneration. The two patients were elderly women (aged 77 and 86 years, respectively) who developed sarcomatous lesions concomitantly, in the first case report in left ilium, left tibia, and first lumbar vertebra and in the second case report in the skull, right ilium, and sacrum. Whether these cases are due to the simultaneous development of several primaries or to metastases from a single primary remains unclear. (orig.)

  3. Kimura disease

    Science.gov (United States)

    AlGhamdi, Fares E.; Al-Khatib, Talal A.; Marzouki, Hani Z.; AlGarni, Mohammed A

    2016-01-01

    Kimura disease is a chronic inflammatory disease that mainly manifests as a lump in the cervical region. Although the underlying pathophysiology is not clear yet, the diagnosis can be established based on specific histopathological characteristics. The first case of this disease was described in China, as well as the majority of subsequent cases that were also described in the Far East countries made Kimura disease traditionally a disease of adult patients of Asian descent. This report describes the occurrence of Kimura disease in pediatric non-Asian patient with a similar clinicopathologic presentation. PMID:26905356

  4. Total colonic aganglionosis in Hirschsprung disease.

    Science.gov (United States)

    Moore, Samuel W

    2012-11-01

    Total colonic aganglionosis (TCA) is a relatively uncommon form of Hirschsprung disease (HSCR), occurring in approximately 2%-13% of cases. It can probably be classified as TCA (defined as aganglionosis extending from the anus to at least the ileocecal valve, but not >50 cm proximal to the ileocecal valve) and total colonic and small bowel aganglionosis, which may involve a very long segment of aganglionosis. It is not yet clear whether TCA merely represents a long form of HSCR or a different expression of the disease. There are many differences between TCA and other forms of HSCR, which require explanation if its ubiquitous clinical features are to be understood. Clinically, TCA appears to represent a different spectrum of disease in terms of presentation and difficulties that may be experienced in diagnosis, suggesting a different pathophysiology from the more common forms of HSCR. There is also some evidence suggesting that instead of being purely congenital, it may represent certain different pathophysiologic mechanisms. This study, in addition to reviewing current understanding and differences between TCA and the more frequently encountered rectosigmoid (or short-segment) expression, correlates them with what is currently known about the genetic and molecular biological background. Moreover, it reviews current outcomes to find consensus on management. Copyright © 2012. Published by Elsevier Inc.

  5. Histopathology of vaccine-preventable diseases.

    Science.gov (United States)

    Solomon, Isaac H; Milner, Danny A

    2017-01-01

    The widespread use of vaccines has been one of the most important medical advances in the last century, saving trillions of dollars and millions of lives. Despite local eradication of some infections, travellers returning from affected areas may cause outbreaks through reintroduction of pathogens to individuals who are unable to receive vaccines for medical reasons or who have declined vaccination for non-medical reasons. Infections that would otherwise be uncommonly encountered by anatomical pathologists should therefore remain in the differential diagnosis for immunocompromised and unvaccinated patients. We review here the histopathological features and ancillary testing required for diagnosis of all illnesses preventable by vaccines that are currently approved for use by the United States Food and Drug Administration, organized into three sections: viral infections preventable by routine vaccination (measles, mumps, rubella, varicella, rotavirus, polio, hepatitis A, hepatitis B, influenza, and human papillomavirus), bacterial infections preventable by routine vaccination (diptheria, tetanus, pertussis, Haemophilus influenzae, pneumococcus, and meningococcus), and infections with specific vaccine indications (anthrax, typhoid, tuberculosis, rabies, Japanese encephalitis, yellow fever, smallpox, and adenovirus). Histopathology for the less common diseases is illustrated in this review. Awareness of a patient's immune and/or vaccine status is a crucial component of the infectious disease work-up, especially for rare diseases that may not otherwise be seen. © 2016 John Wiley & Sons Ltd.

  6. Antimicrobial susceptibility of Staphylococcus aureus isolated from children with impetigo in China from 2003 to 2007 shows community-associated methicillin-resistant Staphylococcus aureus to be uncommon and heterogeneous.

    Science.gov (United States)

    Liu, Y; Kong, F; Zhang, X; Brown, M; Ma, L; Yang, Y

    2009-12-01

    The number of patients with impetigo caused by community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) has been increasing. To investigate the antimicrobial susceptibility of S. aureus causing impetigo in children in China from 2003 to 2007 and further characterize isolates of CA-MRSA. We examined 984 S. aureus isolates for antimicrobial susceptibility to 11 antimicrobials using the agar dilution method. CA-MRSA isolates were analysed for Panton-Valentine leucocidin (PVL) genes, and staphylococcal cassette chromosome mec (SCCmec) typing was performed. The largest proportion (94.5%) of strains were resistant to penicillin, followed by erythromycin (86.2%) and clindamycin (69.6%). In total 772 of 984 (78.5%) S. aureus strains were multiresistant. The incidence of CA-MRSA was 1.1%, with a high rate of resistance to clindamycin (90.9%) and tetracycline (72.7%), but all were susceptible to ciprofloxacin. The susceptibility profiles of MRSA to other antimicrobial agents were similar to those of methicillin-sensitive S. aureus (MSSA). None of the S. aureus strains were resistant to vancomycin and fusidic acid; moreover, only one strain was resistant to mupirocin. Typing of the SCCmec showed that 54.5% were type IV, 18.2% were type V and 9.1% were type VI. All the PVL-positive CA-MRSA carried SCCmec type IV. CA-MRSA is still relatively uncommon and heterogeneous in children in China. Penicillin and erythromycin are no longer appropriate agents. Effective antibiotic agents for patients with impetigo are mupirocin and fusidic acid.

  7. Formation and anti-tumor activity of uncommon in vitro and in vivo metabolites of CPI-613, a novel anti-tumor compound that selectively alters tumor energy metabolism.

    Science.gov (United States)

    Lee, King C; Shorr, Robert; Rodriguez, Robert; Maturo, Claudia; Boteju, Lakmal W; Sheldon, Adrian

    2011-08-01

    CPI-613 is a novel anti-tumor compound with a mechanism-of-action which appears distinct from the current classes of anti-cancer agents used in the clinic. CPI-613 demonstrates both in vitro and in vivo anti-tumor activity. In vitro metabolic studies using liver S9 were performed which demonstrated that CPI-613 undergoes both phase 1 (oxidation) and phase 2 (glucuronidation) transformations. Its metabolic half-life varied between species and ranged from 8 minutes (Hanford minipig) to 47 minutes (CD-1 mouse). We performed metabolite mass assessments using selected in vitro incubation samples and demonstrated that +16 amu oxidation with and without +176 amu glucuronidation products were generated by human and animal liver S9. LC/MS/MS fragmentation patterns showed that an uncommon sulfoxide metabolite was formed and the O-glucuronidation occurred at the terminal carboxyl moiety. We observed that the +192 amu sulfoxide/glucuronide was generated only in human liver S9 and not by any of the other species tested. Synthetic metabolites were prepared and compared with the enzymatically-generated metabolites. Both the chromatographic retention times and the LC/MS/MS fragmentation patterns were similar, demonstrating that the synthetic metabolites were virtually identical to the S9-generated products. CYP450 reaction phenotyping and inhibition data both suggested that multiple CYP isozymes (2C8 and 3A4, along with minor contributions by 2C9 and 2C19) were involved in CPI-613 metabolism and sulfoxide formation. Plasma samples from human subjects dosed with CPI-613 also contained the sulfoxide ± glucuronide metabolites. These results show that the in vitro- and in vivo-generated phase 1 and phase 2 metabolites were in good agreement.

  8. Digestive Diseases

    Science.gov (United States)

    ... Control Problems (Fecal Incontinence) Gas Lactose Intolerance Diarrhea Diverticulosis & Diverticulitis Acid Reflux (GER & GERD) More Digestive Disease ... Polyps Constipation Crohn's Disease Cyclic Vomiting ... and Diverticulitis Dumping Syndrome Foodborne Illnesses Gallstones Gas ...

  9. Heart Disease

    Science.gov (United States)

    ... Awareness Day National Women's Health Week Supporting Nursing Moms at Work Popular Topics Autoimmune diseases Breastfeeding Carpal tunnel syndrome ... Awareness Day National Women's Health Week Supporting Nursing Moms at Work Popular Topics Autoimmune diseases Breastfeeding Carpal tunnel syndrome ...

  10. Schilder's Disease

    Science.gov (United States)

    ... is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, ... is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, ...

  11. Coeliac disease

    African Journals Online (AJOL)

    2013-03-08

    . Coeliac disease, often called coeliac sprue, is an autoimmune disorder of the small intestine which occurs in genetically predisposed people. Coeliac disease is not an allergy or intolerance to gluten. It can present at all ages,.

  12. Parkinson's Disease

    Science.gov (United States)

    Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't ... coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple ...

  13. Addison Disease

    Science.gov (United States)

    ... blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...

  14. Raynaud's Disease

    Science.gov (United States)

    Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the ... secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are ...

  15. Wilson Disease

    Science.gov (United States)

    Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need ... copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and ...

  16. Fifth Disease

    Science.gov (United States)

    Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low ...

  17. Meniere's Disease

    Science.gov (United States)

    Meniere's disease is a disorder of the inner ear. It can cause severe dizziness, a roaring sound in your ... together over several days. Some people with Meniere's disease have "drop attacks" during which the dizziness is ...

  18. Gaucher Disease

    Science.gov (United States)

    Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, ... It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 ...

  19. Kidney Diseases

    Science.gov (United States)

    ... urine until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys ... or medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or ...

  20. Parkinson disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000755.htm Parkinson disease To use the sharing features on this page, please enable JavaScript. Parkinson disease causes certain brain cells to die. These ...

  1. Legionnaire disease

    Science.gov (United States)

    ... disease is less severe. Risk factors include: Alcohol abuse Cigarette smoking Chronic illnesses, such as kidney failure ... Antibiotics are used to fight the infection. Treatment is started as soon as Legionnaire disease is suspected, ...

  2. Liver disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000205.htm Liver disease To use the sharing features on this page, please enable JavaScript. The term "liver disease" applies to many conditions that stop the ...

  3. Liver Diseases

    Science.gov (United States)

    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: Diseases caused by viruses, such as hepatitis ...

  4. Lyme Disease

    Science.gov (United States)

    ... can also spread to the nervous system, causing facial paralysis ( Bell's palsy ), or meningitis. The last stage of ... symptoms, joint pain or a swollen joint, or facial paralysis. How Is Lyme Disease Treated? Lyme disease is ...

  5. Liver Disease

    Science.gov (United States)

    ... from one or both of your parents can cause various substances to build up in your liver, resulting in liver damage. Genetic liver diseases include: Hemochromatosis Hyperoxaluria and oxalosis Wilson's disease Cancer and other growths Examples include: Liver cancer Bile ...

  6. Whipple Disease

    Science.gov (United States)

    ... ed. Sleisenger and Fordtran’s Gastrointestinal and Liver Disease: Pathophysiology/ Diagnosis/Management. 9th ed. Philadelphia: Saunders; 2010: 1833– ... treatment. Hope through Research The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) conducts and ...

  7. Alexander Disease

    Science.gov (United States)

    ... may be other genetic or perhaps even non-genetic causes of Alexander disease. Current research is aimed at understanding the mechanisms by which the mutations cause disease, developing better animal models for the disorder, and exploring potential strategies ...

  8. Alpers' Disease

    Science.gov (United States)

    ... Alpers-like" phenotype without liver disease have POLG mutations. × Definition Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical ...

  9. Farber's Disease

    Science.gov (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids ( ...

  10. Graves disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000358.htm Graves disease To use the sharing features on this page, please enable JavaScript. Graves disease is an autoimmune disorder that leads to an ...

  11. Buerger's Disease

    Science.gov (United States)

    ... is linked to the development of Buerger's disease. Sex Buerger's disease is far more common in males ... Clinic does not endorse any of the third party products and services advertised. Advertising and sponsorship policy ...

  12. Meniere's Disease

    Science.gov (United States)

    ... of Meniere's disease isn't understood. One popular theory that hasn't been proved is that Meniere's ... Medical Education and Research; 2015. Foster CA. Optimal management of Meniere's disease. Therapeutics and Clinical Risk Management. ...

  13. Fungal Diseases

    Science.gov (United States)

    ... Patients Medications that Weaken Your Immune System Outbreaks Rhizopus Investigation CDC at Work Global Fungal Diseases Cryptococcal ... September 6, 2017 Content source: Centers for Disease Control and Prevention National Center for Emerging and Zoonotic ...

  14. Chagas Disease

    Science.gov (United States)

    Chagas disease is caused by a parasite. It is common in Latin America but not in the United ... There are no vaccines or medicines to prevent Chagas disease. If you travel to areas where it occurs, ...

  15. Kidney Disease

    Science.gov (United States)

    ... Breath? Talking to Your Parents - or Other Adults Kidney Disease KidsHealth > For Teens > Kidney Disease Print A A A What's in this article? ... uh-jist), a doctor who specializes in treating kidney diseases. The doctor will ask you about any concerns ...

  16. Legionnaires' Disease

    Science.gov (United States)

    ... get sick if you Are older than 50 Smoke Have a chronic lung disease Have a weak immune system Legionnaires' disease is serious and can be life-threatening. However, most people recover with antibiotic treatment. Centers for Disease Control and Prevention

  17. Lyme Disease

    Science.gov (United States)

    ... common are at higher risk of getting tick-borne diseases. How is Lyme disease diagnosed? It can be ... If clothes are dirty, wash them in hot water and dry on high heat for 60 minutes. Lyme disease treatment What do I do if I find ...

  18. Infectious Diseases

    International Development Research Centre (IDRC) Digital Library (Canada)

    GeneratinG knowledGe. IDRC-supported researchers have successfully applied ecohealth approaches to produce knowledge on the root causes of infectious diseases worldwide. Fighting chagas disease in guatemala. Chagas disease is a serious infection transmitted from animals to humans by a reduvidae bug. In.

  19. Lyme Disease.

    Science.gov (United States)

    Taylor, George C.

    1991-01-01

    This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded public…

  20. Nonatheroscleotic Isolated Middle Cerebral Artery Disease May Be Early Manifestation of Moyamoya Disease.

    Science.gov (United States)

    Kim, Yeon-Jung; Lee, Joo Kyung; Ahn, Sung-Ho; Kim, Bum Joon; Kang, Dong-Wha; Kim, Jong S; Kwon, Sun U

    2016-09-01

    Middle cerebral artery steno-occlusive disease (MCAD) is not an uncommon cause of ischemic stroke in young Asians. Aside from atherosclerosis, the pathogenesis of MCAD include various nonatherosclerotic vasculopathies, most of which are yet to be defined. This study investigated the pathogenesis of symptomatic isolated MCAD in young Asian patients using high-resolution magnetic resonance imaging (HR-MRI) and mutation analysis of RNF213. Patients aged moyamoya disease, dissection, and vasculitis; with significant steno-occlusion in cerebral arteries other than the MCA; or with high-risk cardioembolic source were excluded. Using high-resolution MRI, patients were classified into an atherosclerosis group and a nonatherosclerosis group. Eighty-one patients were enrolled, 45 (56.6%) in the atherosclerosis and 36 (44.4%) in the nonatherosclerosis group. The nonatherosclerosis group was significantly younger (P=0.013), had a smaller number of vascular risk factors (P=0.001), showed a lower homocysteine level (Pmoyamoya disease is responsible etiologically for a significant portion of nonatherosclerotic lesions. Symptomatic isolated MCAD may be an early manifestation of moyamoya disease in young Asian adults. © 2016 American Heart Association, Inc.

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

    Directory of Open Access Journals (Sweden)

    Julie R Ingelfinger

    2016-01-01

    Full Text Available 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.

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

    Directory of Open Access Journals (Sweden)

    J.R. Ingelfinger

    2016-01-01

    Full Text Available 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.

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

    Directory of Open Access Journals (Sweden)

    Julie R Ingelfinger

    2016-03-01

    Full Text Available 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.

  4. Averting the legacy of kidney disease – focus on childhood

    Directory of Open Access Journals (Sweden)

    Julie R. Ingelfinger

    2016-03-01

    Full Text Available 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.

  5. Lyme Disease

    OpenAIRE

    Ozdemir, Davut; İnce, Nevin

    2015-01-01

    Lyme disease (LD) is caused by the spirochete, Borrelia burgdorferi sensu lato complex. Humans are infected by a tick bite to the skin. This disease is a non-contagious infectious disease. It has been known since the 19th century. LD has a worldwide distribution. It is endemic in Europe, North and South America. There are case reports since 1990 in Turkey. The clinical presentation varies depending on the stage of the disease. Lyme disease is classified into three stages: early localized dise...

  6. Prevalence and pattern of cystic kidney diseases in Ilorin, Nigeria

    Directory of Open Access Journals (Sweden)

    Chijioke Adindu

    2010-01-01

    Full Text Available Cystic kidney disease is an important cause of chronic renal failure. Since the utili-zation of imaging techniques in the diagnosis of diseases has become widespread, cystic kidney disease is now being increasingly diagnosed. This study is designed to determine the prevalence and pattern of cystic kidney disease at the Nephrology Unit of University of Ilorin Teaching Hospital (UITH, Ilorin. All consecutive adult patients seen in the Nephrology Unit of UITH during a ten-year period (January 1999-December 2008 were studied for the presence of cystic kidney disease. The results were analyzed with specific reference to age, gender, annual inci-dence, type of cystic disease, location of cyst, mode of presentation, complications and prognosis. A total of 67 out of 436 renal patients (15.4% studied had cystic kidney disease. A progressive annual increase in the number of cases was noticed. The age-range was 20-83 years with a mean of 47.4 +/- 16.2 years and the peak incidence was in the third and sixth decades with male to female ratio of 1.3:1. The types of cystic kidney disease identified in the study were: 26 simple cysts (38.8%, 35 polycystic kidney disease (53.3% and six multicystic kidney disease (8.9%. The most common mode of presentation was abdominal pain followed by hypertension, urinary tract infection, chronic renal failure and palpable abdominal mass, in decreasing order. Our study indicates that cystic kidney disease is not an uncommon problem among our renal patients and the incidence is on the increase. Although, routine screening of family members with cystic kidney disease still remains a contentious issue because the knowledge may evoke anxiety in terms of employment and insurance, screening of symptomatic cases or those that develop hypertension, hematuria and proteinuria is strongly recommended.

  7. Acute Fulminant Colitis Caused by Idiopathic Mesenteric Inflammatory Veno-Occlusive Disease

    Directory of Open Access Journals (Sweden)

    James B. Canavan

    2007-12-01

    Full Text Available Mesenteric inflammatory veno-occlusive disease (MIVOD is an uncommon but important cause of bowel inflammation. MIVOD is characterised by lymphocytic inflammation and non-thrombotic occlusion of the mesenteric venules and veins. We present the case of a young man who presented with acute fulminant colitis, requiring colectomy. The differential diagnosis, pathogenesis and treatment are discussed. This case illustrates the rapid progression from ‘well’ to ‘colectomy’ that can occur with MIVOD. MIVOD should be considered in the differential diagnosis of colitis that does not respond to conventional medical treatment.

  8. [Lipedema: up-to-date of a long forgotten disease].

    Science.gov (United States)

    Wollina, Uwe

    2017-10-01

    Lipedema is a chronic disorder of subcutaneous adipose tissue of unknown etiology not uncommon among post-puberty women. The disease has a negative impact on self-esteem, mobility, and quality of life. Lipedema is characterized by symmetrical, disfiguring hyperplastic adipose tissue combined with bruising and pain. Untreated lipedema fosters osteoarthritis, secondary lymphedema, limited mobility, and psychosocial stigmatization. Treatment consists of conservative complex decongestive therapy and surgery by microcannular tumescent liposuction. Liposuction is the only available treatment capable to reduce the pathological adipose tissue durable and to prevent complications.

  9. Voriconazole-Induced Periostitis Mimicking Chronic Graft-versus-Host Disease after Allogeneic Stem Cell Transplantation

    Directory of Open Access Journals (Sweden)

    Karen Sweiss

    2016-01-01

    Full Text Available Voriconazole is an established first-line agent for treatment of invasive fungal infections in patients undergoing allogeneic stem cell transplantation (ASCT. It is associated with the uncommon complication of periostitis. We report this complication in a 58-year-old female undergoing HSCT. She was treated with corticosteroids with minimal improvement. The symptoms related to periostitis can mimic chronic graft-versus-host disease in patients undergoing HSCT and clinicians should differentiate this from other diagnoses and promptly discontinue therapy.

  10. Cushing's disease as a cause of severe osteoporosis: a clinical challenge.

    Science.gov (United States)

    Abdel-Kader, Nadia; Cardiel, Mario H; Navarro Compan, Victoria; Piedra Priego, Juan; González, Ana

    2012-01-01

    Secondary osteoporosis is a frequently underestimated bone disorder. It is a secondary cause of bone loss that affects more than half of men and premenopausal and perimenopausal women, and about one-fitfth of postmenopausal women. We herein report an uncommon case of multiple fractures due to secondary osteoporosis caused by Cushing's disease. In this case the appearance of fractures in a 41 years old woman was the sign of alarm that ultimately lead us to the diagnosis. Copyright © 2011 Elsevier España, S.L. All rights reserved.

  11. Analysis of EIF4G1 in Parkinson's disease among Asians.

    Science.gov (United States)

    Zhao, Yi; Ho, Patrick; Prakash, Kumar-M; Foo, Jia-Nee; Liu, Jian-Jun; Au, Wing-Lok; Tan, Louis C; Tan, Eng-King

    2013-04-01

    Sequence analysis of all the exons of EIF4G1 in 96 Asian patients with Parkinson's disease (PD) did not reveal any pathogenic mutations. A novel coding variant (Pro693Ser) in exon 15 (position 2077) was detected in one PD patient but not in 539 control subjects. Analysis of a coding polymorphic variant (rs2178403) in 1330 subjects revealed similar frequency between control subjects (0.638) and PD patients (0.640). EIF4G1 is an uncommon cause of PD in our Asian cohort. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Paraplegia after aortic and superior mesenteric artery stenting for occlusive disease.

    Science.gov (United States)

    Hans, Sachinder S; Ngo, William; McAllister, Michael

    2014-02-01

    Paraplegia after endovascular therapy for aortic and visceral artery occlusive disease is an extremely uncommon occurrence. Two cases of paraplegia after placement of an aortic covered stent for infrarenal aortic stenosis and a superior mesenteric artery stent for chronic visceral ischemia are presented. In both patients, embolization of the arterial supply to the spinal cord was the presumed cause. One patient had a slight recovery after intense physical therapy and rehabilitation. The second patient did not have any recovery from her paraplegia. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Sterile subperiosteal fluid collections accompanying orbital wall infarction in sickle-cell disease.

    Science.gov (United States)

    Huckfeldt, Rachel M; Shah, Ankoor S

    2014-10-01

    Infarction of the orbital wall is an uncommon manifestation of sickle cell disease (SCD) that may mimic an infectious process. We report a patient with two separate orbital infarctions with different presenting symptoms involving different bones. Radiologic-guided sampling of a periosteal fluid collection in the first episode showed likely sterile inflammatory exudates. This case highlights the range of findings in orbital wall infarction in SCD as well as helpful clinical and imaging entities that may differentiate infarction from infection, allowing early diagnosis and appropriate management. Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  14. [Acute pancreatitis in childhood. Is it the same disease in adults?].

    Science.gov (United States)

    Baeza-Herrera, Carlos; Velasco-Soria, Luis; Mora-Hernández, Francisco; Godoy-Esquivel, Arturo Hermilo; Osorio-Agüero, Cecilia Dinorah

    2003-01-01

    Acute pancreatitis in children is an uncommon, little known, poorly defined disease and thus is rarely considered in diagnosis of pediatric abdominal pain. It is rare but is being recognized more frequently, and differs from the disease in the adult both in etiology and therapeutic approach. Fifty children with acute pancreatitis were managed. Their history and postoperative course were analyzed in a retrospective study. The clinical presentation was unremarkable; all patients had abdominal pain, specially in epigastrium, and vomiting was the only other clinical sign exhibited by > 80%. More than 40 biliary diseases were the cause of pancreatitis; trauma was the cause in 30%. Diagnosis could be difficult and unnecessary laparotomy was performed in 16 cases (32.0%) instances of suspected acute abdomen. Morbidity included sepsis, diabetic cetoacidosis, and pancreatic pseudocyst. Biliary disease is a frequent cause of both pediatric and adult pancreatitis. They are differences in clinical course and prognosis. In children, pancreatitis is usually confused with appendicitis.

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

    Science.gov (United States)

    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.

  16. Onychomadesis in a 9-month-old boy with hand-foot-mouth disease.

    Science.gov (United States)

    Mortada, Ibrahim; Mortada, Rola; Al Bazzal, Mohamad

    2017-08-14

    Nail abnormalities in childhood are generally uncommon. Recently, onychomadesis is described as a rare, late complication of hand-foot-mouth disease, which is a viral illness commonly seen in the pediatric age group. It is therefore important to elucidate the presentation of this entity, especially in the context of the hand-foot-mouth disease. We report a case of onychomadesis in a 9-month old Lebanese boy who presented to the emergency department with rapidly progressing nail changes involving all four extremities. These changes appeared few days after the healing of cutaneous lesions of hand-foot-mouth disease. This case highlights the importance of recognizing the association between onychomadesis and hand-foot-mouth disease in order to avoid unnecessary treatment and to reassure the patient's parents.

  17. Mayo Clinic Cancer Center experience of metastatic extramammary Paget disease 1998-2012

    Directory of Open Access Journals (Sweden)

    Leslie Padrnos

    2016-11-01

    Full Text Available Extramammary Paget disease (EMPD is a rare cutaneous malignancy. The most common presentation of EMPD is the vulva followed by perianal involvement. Most cases are localized to the dermis with treatment focused on surgery, topical treatment or radiotherapy. Recurrence is frequent despite therapies utilized. Metastatic extramammary Paget disease is uncommon and, as such, standard treatment guidelines do not exist. This study sought to evaluate the treatment regimens and outcomes of patients treated at a Mayo Clinic Center from 1998-2012. Cancer registry inquiry revealed 261 patients with report advanced Paget disease during these years. Ten cases of metastatic EPMD were identified with sufficient documentation for review. This review reveals support for utilizing localized radiation therapy for bulky disease sequentially with systemic chemotherapy consisting of carboplatin and paclitaxel or irinotecan. Further studies are necessary to define the optimal treatment regimen.

  18. Osteopoikilosis associated with keloids formation, rheumatoid arthritis, myasthenia, Graves` disease and megaloblastic anaemia

    Directory of Open Access Journals (Sweden)

    Irena Zimmermann-Górska

    2014-06-01

    Full Text Available Osteopoikilosis is an uncommon hereditary dysplasia of skeleton characterized by small sclerotic foci clustered mainly in periarticular osseus regions. The radiographic pattern is pathognomonic. The disease can be a result of the loss-of-function mutations in LEMD3 – the gene responsible for bone density which can influence also on the expression of transforming growth factor β1 (TGF-β1 signalling. TGF-β1 is a key mediator of fibrosis and a modulator of immune responses. Patients with osteopoikilosis demonstrate a higher incidence of keloid formation and autoimmune diseases. In the presented case osteopoikilosis was associated with keloids formation and autoimmune diseases: rheumatoid arthritis, myasthenia, Graves’ disease and megaloblastic anaemia.

  19. European Guidelines on Pericardial Diseases: a Focused Review of Novel Aspects.

    Science.gov (United States)

    Fardman, Alexander; Charron, Philippe; Imazio, Massimo; Adler, Yehuda

    2016-05-01

    Pericardial diseases are not uncommon in daily clinical practice. The spectrum of these syndromes includes acute and chronic pericarditis, pericardial effusion, constrictive pericarditis, congenital defects, and neoplasms. The extent of the high-quality evidence on pericardial diseases has expanded significantly since the first international guidelines on pericardial disease management were published by the European Society of Cardiology in 2004. The clinical practice guidelines provide a useful reference for physicians in selecting the best management strategy for an individual patient by summarizing the current state of knowledge in a particular field. The new clinical guidelines on the diagnosis and management of pericardial diseases that have been published by the European Society of Cardiology in 2015 represent such a tool and focus on assisting the physicians in their daily clinical practice. The aim of this review is to outline and emphasize the most clinically relevant new aspects of the current guidelines as compared with its previous version published in 2004.

  20. Geriatric congenital heart disease: burden of disease and predictors of mortality.

    Science.gov (United States)

    Afilalo, Jonathan; Therrien, Judith; Pilote, Louise; Ionescu-Ittu, Raluca; Martucci, Giuseppe; Marelli, Ariane J

    2011-09-27

    The study sought to measure the prevalence, disease burden, and determinants of mortality in geriatric adults with congenital heart disease (ACHD). The population of ACHD is increasing and aging. The geriatric ACHD population has yet to be characterized. Population-based cohort study using the Quebec Congenital Heart Disease Database of all patients with congenital heart disease coming into contact with the Quebec healthcare system between 1983 and 2005. Subjects with specific diagnoses of congenital heart disease and age 65 years at time of entry into the cohort were followed for up to 15 years. The primary outcome was all-cause mortality. The geriatric ACHD cohort consisted of 3,239 patients. From 1990 to 2005, the prevalence of ACHD in older adults remained constant from 3.8 to 3.7 per 1,000 indexed to the general population (prevalence odds ratio: 0.98; 95% confidence interval [CI]: 0.93 to 1.03). The age-stratified population prevalence of ACHD was similar in older and younger adults. The most common types of congenital heart disease lesions in older adults were shunt lesions (60%), followed by valvular lesions (37%) and severe congenital heart lesions (3%). Type of ACHD and ACHD-related complications had a minor impact on mortality, which was predominantly driven by acquired comorbid conditions. The most powerful predictors of mortality in the Cox proportional hazards model were: dementia (hazard ratio [HR]: 3.24; 95% CI: 1.53 to 6.85), gastrointestinal bleed (HR: 2.79; 95% CI: 1.66 to 4.69), and chronic kidney disease (HR: 2.50; 95% CI: 1.72 to 3.65). The prevalence of geriatric ACHD is substantial, although severe lesions remain uncommon. ACHD patients that live long enough acquire general medical comorbidities, which are the pre-eminent determinants of their mortality. Copyright © 2011 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.