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Sample records for causing mild atypical

  1. A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I: a case report

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    Kvittingen Eli-Anne

    2009-12-01

    Full Text Available Abstract A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver. Serum transaminases were elevated to 5-10 times upper limit of normal, alkaline phosphatases were 1685 U/L (180 s ( Fumarylacetoacetase (FAH protein and activity in cultured fibroblasts and liver tissue were decreased but not absent. 4-hydroxyphenylpyruvate dioxygenase activity in liver was normal, which is atypical for tyrosinemia type I. A novel mutation was found in the FAH gene: c.103G>A (Ala35Thr. In vitro expression studies showed this mutation results in a strongly decreased FAH protein expression. Dietary treatment with phenylalanine and tyrosine restriction was initiated at 4 months, leading to complete clinical and biochemical normalisation. The patient, currently aged 12 years, shows a normal physical and psychomotor development. This is the first report of mild tyrosinemia type I disease caused by an Ala35Thr mutation in the FAH gene, presenting atypically without increase of the diagnostically important toxic metabolites succinylacetone and succinylacetoacetate.

  2. Atypicality in presentation of neuroleptic malignant syndrome caused by olanzapine

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    Mishra Biswaranjan

    2007-10-01

    Full Text Available Neuroleptic malignant syndrome (NMS is the most serious of acute neurological side effects produced by antipsychotic medication, characterized by hyperthermia, rigidity, altered consciousness and autonomic dysfunction, the prevalence of which varies from 0.4-1.4%. NMS is usually seen in treatment with high potency typical antipsychotics and very rarely with atypical antipsychotics. However, NMS cases have been reported with risperidone, clozapine, olanzapine and quetiapine. The presentations of NMS have often varied, and we report another atypicality in presentation of NMS due to olanzapine use.

  3. Atypical Pelvic Crescent Fracture Caused by Vertical Shear Force

    OpenAIRE

    2014-01-01

    The crescent fracture consists of a posterior iliac wing fracture with extension into the sacroiliac joint and a dislocation of the sacroiliac joint. This fracture represents a subset of lateral compression injury. The strong posterior ligaments of sacroiliac joint remain intact and a fracture fragment (crescent shape) involving the posterior superior iliac spines remains firmly attached to the sacrum. We report a patient with atypical pelvic crescent fracture that is mainly influenced by ver...

  4. Clinical characterisation of pneumonia caused by atypical pathogens combining classic and novel predictors.

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    Masiá, M; Gutiérrez, F; Padilla, S; Soldán, B; Mirete, C; Shum, C; Hernández, I; Royo, G; Martin-Hidalgo, A

    2007-02-01

    The aim of this study was to characterise community-acquired pneumonia (CAP) caused by atypical pathogens by combining distinctive clinical and epidemiological features and novel biological markers. A population-based prospective study of consecutive patients with CAP included investigation of biomarkers of bacterial infection, e.g., procalcitonin, C-reactive protein and lipopolysaccharide-binding protein (LBP) levels. Clinical, radiological and laboratory data for patients with CAP caused by atypical pathogens were compared by univariate and multivariate analysis with data for patients with typical pathogens and patients from whom no organisms were identified. Two predictive scoring models were developed with the most discriminatory variables from multivariate analysis. Of 493 patients, 94 had CAP caused by atypical pathogens. According to multivariate analysis, patients with atypical pneumonia were more likely to have normal white blood cell counts, have repetitive air-conditioning exposure, be aged <65 years, have elevated aspartate aminotransferase levels, have been exposed to birds, and have lower serum levels of LBP. Two different scoring systems were developed that predicted atypical pathogens with sensitivities of 35.2% and 48.8%, and specificities of 93% and 91%, respectively. The combination of selected patient characteristics and laboratory data identified up to half of the cases of atypical pneumonia with high specificity, which should help clinicians to optimise initial empirical therapy for CAP.

  5. Atypical pneumonia

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    Walking pneumonia; Community-acquired pneumonia - atypical ... Bacteria that cause atypical pneumonia include: Mycoplasma pneumonia is caused by the bacteria Mycoplasma pneumoniae . It often affects people younger than age 40. Pneumonia due ...

  6. Atypical Vitamin B-6 Deficiency A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

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    Baumgart, A.; von Spiczak, S.; Verhoeven-Duif, N. M.;

    2014-01-01

    . We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in ALDH7A1. Presenting features were highly atypical of pyridoxine-dependent epilepsy, including febrile seizures, response to anticonvulsive drugs, and periods of seizure freedom without...... pyridoxine treatment. "Hidden" vitamin B-6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes....

  7. Severe Hemolytic Anemia Associated with Mild Pneumonia Caused by Mycoplasma pneumonia

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    Zafer Kurugol

    2012-01-01

    Full Text Available We report a case of M. pneumoniae infection presenting with severe hemolytic anemia in a 4-year-old girl, with a ten-day history of paleness, weakness, and nonproductive cough. She was very pale and tachycardic. However, she was not tachypneic. Chest examination showed normal breath sounds. No rhoncus or whistling was heard. As the erythrocyte sedimentation rate was excessively elevated, the differential diagnosis primarily comprised hematological malignancies. Direct Coombs' test was positive. Diagnosis of M. pneumoniae infection was confirmed by elevated levels of M. pneumoniae IgG and IgM antibodies and a chest X-ray suggestive of atypical pneumonia. The patient was treated with clarithromycin and packed red cell transfusion and showed a favorable recovery within ten days after admission. In conclusion, this case demonstrates that severe hemolytic anemia caused by M. pneumoniae is not always associated with severe pulmonary involvement, even when the respiratory infection is very mild, M. pneumoniae may be the cause of severe anemia.

  8. Maporal Hantavirus Causes Mild Pathology in Deer Mice (Peromyscus maniculatus)

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    McGuire, Amanda; Miedema, Kaitlyn; Fauver, Joseph R.; Rico, Amber; Aboellail, Tawfik; Quackenbush, Sandra L.; Hawkinson, Ann; Schountz, Tony

    2016-01-01

    Rodent-borne hantaviruses can cause two human diseases with many pathological similarities: hantavirus cardiopulmonary syndrome (HCPS) in the western hemisphere and hemorrhagic fever with renal syndrome in the eastern hemisphere. Each virus is hosted by specific reservoir species without conspicuous disease. HCPS-causing hantaviruses require animal biosafety level-4 (ABSL-4) containment, which substantially limits experimental research of interactions between the viruses and their reservoir hosts. Maporal virus (MAPV) is a South American hantavirus not known to cause disease in humans, thus it can be manipulated under ABSL-3 conditions. The aim of this study was to develop an ABSL-3 hantavirus infection model using the deer mouse (Peromyscus maniculatus), the natural reservoir host of Sin Nombre virus (SNV), and a virus that is pathogenic in another animal model to examine immune response of a reservoir host species. Deer mice were inoculated with MAPV, and viral RNA was detected in several organs of all deer mice during the 56 day experiment. Infected animals generated both nucleocapsid-specific and neutralizing antibodies. Histopathological lesions were minimal to mild with the peak of the lesions detected at 7–14 days postinfection, mainly in the lungs, heart, and liver. Low to modest levels of cytokine gene expression were detected in spleens and lungs of infected deer mice, and deer mouse primary pulmonary cells generated with endothelial cell growth factors were susceptible to MAPV with viral RNA accumulating in the cellular fraction compared to infected Vero cells. Most features resembled that of SNV infection of deer mice, suggesting this model may be an ABSL-3 surrogate for studying the host response of a New World hantavirus reservoir. PMID:27763552

  9. Maporal Hantavirus Causes Mild Pathology in Deer Mice (Peromyscus maniculatus

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    Amanda McGuire

    2016-10-01

    Full Text Available Rodent-borne hantaviruses can cause two human diseases with many pathological similarities: hantavirus cardiopulmonary syndrome (HCPS in the western hemisphere and hemorrhagic fever with renal syndrome in the eastern hemisphere. Each virus is hosted by specific reservoir species without conspicuous disease. HCPS-causing hantaviruses require animal biosafety level-4 (ABSL-4 containment, which substantially limits experimental research of interactions between the viruses and their reservoir hosts. Maporal virus (MAPV is a South American hantavirus not known to cause disease in humans, thus it can be manipulated under ABSL-3 conditions. The aim of this study was to develop an ABSL-3 hantavirus infection model using the deer mouse (Peromyscus maniculatus, the natural reservoir host of Sin Nombre virus (SNV, and a virus that is pathogenic in another animal model to examine immune response of a reservoir host species. Deer mice were inoculated with MAPV, and viral RNA was detected in several organs of all deer mice during the 56 day experiment. Infected animals generated both nucleocapsid-specific and neutralizing antibodies. Histopathological lesions were minimal to mild with the peak of the lesions detected at 7–14 days postinfection, mainly in the lungs, heart, and liver. Low to modest levels of cytokine gene expression were detected in spleens and lungs of infected deer mice, and deer mouse primary pulmonary cells generated with endothelial cell growth factors were susceptible to MAPV with viral RNA accumulating in the cellular fraction compared to infected Vero cells. Most features resembled that of SNV infection of deer mice, suggesting this model may be an ABSL-3 surrogate for studying the host response of a New World hantavirus reservoir.

  10. Atypical presentation of Creutzfeldt-Jakob disease: a rare but important cause of rapidly progressive dementia.

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    Taillefer, Marguerite S; Tangarorang, Glendo L; Kuchel, George A; Menkes, Daniel L

    2011-09-01

    We report an atypical presentation of sporadic Creutzfeldt-Jakob disease (CJD) in a 74-year-old woman that illustrates the difficulty in diagnosing this rare, but important, cause of rapidly progressive dementia. Despite well-established criteria, this diagnosis is often missed or substantially delayed (Table 1). In this case, a precipitous cognitive decline associated with a urinary tract infection initiallysuggested delirium. Although atypical CJD was considered as a cause when symptoms persisted, a definitive diagnosis was established postmortem when the cerebrospinal fluid (CSF) prion protein 14-3-3 tested positive. Creutzfeldt-Jakob disease must be considered in the differential diagnosis of rapidly progressive dementia as Connecticut accounts for approximately three of the more than 200 cases diagnosed nationally.

  11. DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

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    Volk, Timo; Pannicke, Ulrich; Reisli, Ismail; Bulashevska, Alla; Ritter, Julia; Björkman, Andrea; Schäffer, Alejandro A.; Fliegauf, Manfred; Sayar, Esra H.; Salzer, Ulrich; Fisch, Paul; Pfeifer, Dietmar; Di Virgilio, Michela; Cao, Hongzhi; Yang, Fang; Zimmermann, Karin; Keles, Sevgi; Caliskaner, Zafer; Güner, S¸ükrü; Schindler, Detlev; Hammarström, Lennart; Rizzi, Marta; Hummel, Michael; Pan-Hammarström, Qiang; Schwarz, Klaus; Grimbacher, Bodo

    2015-01-01

    Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease—all with severely impaired T-cell immunity. By whole-exome sequencing, we investigated the molecular defect in a consanguineous family with three children clinically diagnosed with antibody deficiency. We identified perfectly segregating homozygous variants in DCLRE1C in three index patients with recurrent respiratory tract infections, very low B-cell numbers and serum IgA levels. In patients, decreased colony survival after irradiation, impaired proliferative response and reduced counts of naïve T cells were observed in addition to a restricted T-cell receptor repertoire, increased palindromic nucleotides in the complementarity determining regions 3 and long stretches of microhomology at switch junctions. Defective V(D)J recombination was complemented by wild-type ARTEMIS protein in vitro. Subsequently, homozygous or compound heterozygous DCLRE1C mutations were identified in nine patients from the same geographic region. We demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. This novel association broadens the clinical spectrum associated with ARTEMIS mutations. Clinicians should consider the possibility that an immunodeficiency with a clinically mild initial presentation could be a combined immunodeficiency, so as to provide appropriate care for affected patients. PMID:26476407

  12. DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

    Science.gov (United States)

    Volk, Timo; Pannicke, Ulrich; Reisli, Ismail; Bulashevska, Alla; Ritter, Julia; Björkman, Andrea; Schäffer, Alejandro A; Fliegauf, Manfred; Sayar, Esra H; Salzer, Ulrich; Fisch, Paul; Pfeifer, Dietmar; Di Virgilio, Michela; Cao, Hongzhi; Yang, Fang; Zimmermann, Karin; Keles, Sevgi; Caliskaner, Zafer; Güner, S Ükrü; Schindler, Detlev; Hammarström, Lennart; Rizzi, Marta; Hummel, Michael; Pan-Hammarström, Qiang; Schwarz, Klaus; Grimbacher, Bodo

    2015-12-20

    Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease-all with severely impaired T-cell immunity. By whole-exome sequencing, we investigated the molecular defect in a consanguineous family with three children clinically diagnosed with antibody deficiency. We identified perfectly segregating homozygous variants in DCLRE1C in three index patients with recurrent respiratory tract infections, very low B-cell numbers and serum IgA levels. In patients, decreased colony survival after irradiation, impaired proliferative response and reduced counts of naïve T cells were observed in addition to a restricted T-cell receptor repertoire, increased palindromic nucleotides in the complementarity determining regions 3 and long stretches of microhomology at switch junctions. Defective V(D)J recombination was complemented by wild-type ARTEMIS protein in vitro. Subsequently, homozygous or compound heterozygous DCLRE1C mutations were identified in nine patients from the same geographic region. We demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. This novel association broadens the clinical spectrum associated with ARTEMIS mutations. Clinicians should consider the possibility that an immunodeficiency with a clinically mild initial presentation could be a combined immunodeficiency, so as to provide appropriate care for affected patients.

  13. Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A‐II in Newborn Piglets

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    Ad de Groof

    2016-10-01

    Full Text Available Congenital tremor type A‐II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently‐described virus: atypical porcine pestivirus (APPV. Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms tested. Piglets on a farm with no history of congenital tremor were PCR‐negative for the virus. To demonstrate a causal relationship between APPV and disease, three gilts were inoculated via intramuscular injection at day 32 of pregnancy. In two of the three litters, vertical transmission of the virus occurred. Clinical signs of congenital tremor were observed in APPV‐infected newborns, yet also two asymptomatic carriers were among the offspring. Piglets of one litter were PCR‐negative for the virus, and these piglets were all without congenital tremors. Long‐term follow up of farm piglets born with congenital tremors showed that the initially high viremia in serum declines at five months of age, but shedding of the virus in feces continues, which explains why the virus remains present at affected farms and causes new outbreaks. We conclude that trans‐placental transmission of APPV and subsequent infection of the fetuses is a very likely cause of congenital tremor type A‐II in piglets.

  14. Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A-II in Newborn Piglets

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    de Groof, Ad; Deijs, Martin; Guelen, Lars; van Grinsven, Lotte; van Os-Galdos, Laura; Vogels, Wannes; Derks, Carmen; Cruijsen, Toine; Geurts, Victor; Vrijenhoek, Mieke; Suijskens, Janneke; van Doorn, Peter; van Leengoed, Leo; Schrier, Carla; van der Hoek, Lia

    2016-01-01

    Congenital tremor type A-II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently-described virus: atypical porcine pestivirus (APPV). Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms tested). Piglets on a farm with no history of congenital tremor were PCR-negative for the virus. To demonstrate a causal relationship between APPV and disease, three gilts were inoculated via intramuscular injection at day 32 of pregnancy. In two of the three litters, vertical transmission of the virus occurred. Clinical signs of congenital tremor were observed in APPV-infected newborns, yet also two asymptomatic carriers were among the offspring. Piglets of one litter were PCR-negative for the virus, and these piglets were all without congenital tremors. Long-term follow up of farm piglets born with congenital tremors showed that the initially high viremia in serum declines at five months of age, but shedding of the virus in feces continues, which explains why the virus remains present at affected farms and causes new outbreaks. We conclude that trans-placental transmission of APPV and subsequent infection of the fetuses is a very likely cause of congenital tremor type A-II in piglets. PMID:27782037

  15. Mediastinal vacuum phenomenon: atypical pneumomediastinum caused by gas replacement of diminished fat.

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    Hagiwara, Hiroaki; Torii, Ikuo

    2015-01-01

    We report a case involving an 83-year-old man with interstitial lung disease who developed atypical pneumomediastinum caused by gas replacement of diminished fat. The patient presented with a complaint of worsening symptoms of respiratory difficulty since a diagnosis of chronic eosinophilic pneumonia 5 months back. He had been under observation with no particular treatment for 5 months. Computed tomography performed on admission revealed pneumomediastinum. When the current scan was compared with that obtained 5 months ago, it was evident that the fat surrounding the mediastinum had been replaced by gas density. There was no mediastinal enlargement, pneumothorax, or pneumopericardium. Because the patient was elderly, home oxygen therapy was initiated for the interstitial pneumonia with no steroid therapy. Computed tomography performed 10 months after discharge showed the reappearance of mediastinal fat and no evidence of gas density. This case is unique because the pneumomediastinum was distinct from spontaneous pneumomediastinum caused by alveolar air leaks and resembled the vacuum phenomenon caused by intervertebral disc degeneration.

  16. An atypical case of fragile X syndrome caused by a deletion that includes FMRI gene

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    Quan, F.; Zonana, J.; Gunter, K.; Peterson, K.L.; Magenis, R.E., Popovich, B.W. [Shriners Hospital for Crippled Children, Portland, OR (United States)

    1995-05-01

    Fragile X syndrome is the most common form of inherited mental retardation and results from the transcriptional inactivation of the FMR1 gene. In the vast majority of cases, this is caused by the expansion of an unstable CGG repeat in the first exon of the FMR1 gene. We describe here a phenotypically atypical case of fragile X syndrome, caused by a deletion that includes the entire FMR1 gene and {ge}9.0 Mb of flanking DNA. The proband, RK, was a 6-year-old mentally retarded male with obesity and anal atresia. A diagnosis of fragile X syndrome was established by the failure of RK`s DNA to hybridize to a 558-bp PstI-XhoI fragment (pfxa3) specific for the 5{prime}-end of the FMR1 gene. The analysis of flanking markers in the interval from Xq26.3-q28 indicated a deletion extending from between 160-500 kb distal and 9.0 Mb proximal to the FMR1 gene. High-resolution chromosome banding confirmed a deletion with breakpoints in Xq26.3 and Xq27.3. This deletion was maternally transmitted and arose as a new mutation on the grandpaternal X chromosome. The maternal transmission of the deletion was confirmed by FISH using a 34-kb cosmid (c31.4) containing most of the FMR1 gene. These results indicated that RK carried a deletion of the FMR1 region with the most proximal breakpoint described to date. This patient`s unusual clinical presentation may indicate the presence of genes located in the deleted interval proximal to the FMR1 locus that are able to modify the fragile X syndrome phenotype. 36 refs., 7 figs.

  17. Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

    DEFF Research Database (Denmark)

    Lindquist, Suzanne Granhøj; Nielsen, Jørgen Erik; Stokholm, Jette

    2008-01-01

    Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a fam...

  18. Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

    DEFF Research Database (Denmark)

    Lindquist, S.G.; Nielsen, J.E.; Stokholm, J.

    2008-01-01

    BACKGROUND: Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic...... features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features. METHODS AND RESULTS: We report a family with a history of dementia compatible with autosomal dominant transmission. The disease course in the proband was not typical for Alzheimer......'s disease as the diagnosis was preceded by 8 years of an isolated amnesia. Further, the proband had epilepsy with complex partial seizures and central degenerative autonomic failure as determined by clinical physiology. Sequencing the three known causative Alzheimer genes revealed a pathogenic missense...

  19. MACROGLOSSIA AS A CAUSE OF ATYPICAL SWALLOWING: COMPARISON OF EVALUATION AND LOGOPEDIC TREATMENT BETWEEN BECKWITH-WIEDEMANN AND DOWN PATIENTS

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    C. Anichini

    2013-12-01

    Full Text Available Atypical swallowing is the persistence of childlike deglutition at the end of dental eruption. One of the main causes is macroglossia, that is the abnormal enlargement of the tongue. The treatment is logopedic and/or surgical. Children with macroglossia have an increased incidence of respiratory diseases and infections, as well as malocclusions, articulatory defects and aesthetic damage. In this study we focused on two genetic syndromes with macroglossia: Beckwith-Wiedemann Syndrome (BWS and Down Syndrome (DS: 7 patients were evaluated for logopedic treatment: 3 are affected by BWS, 2 are affected by DS. In addition, 2 patients with isolated atypical swallowing were included in the study to emphasize problems connected with atypical swallowing. All the patients underwent a global examination and a personalized logopedic therapy scheme was planned. With the exception of one of them who was lost to follow up and who did not continue with the exercises the speech therapist had recommended, all the children showed good response and compliance with remarkable improvements, thus proving the importance of an early, constant and intensive logopedic treatment.

  20. Atypical radiological and intraoperative findings of acute cerebral hemorrhage caused by ruptured cerebral aneurysm in a patient with severe chronic anemia.

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    Matano, Fumihiro; Murai, Yasuo; Nakagawa, Shunsuke; Kato, Taisei; Kitamura, Takayuki; Sekine, Tetsuro; Takagi, Ryo; Teramoto, Akira

    2014-01-01

    Acute intracerebral hemorrhage (ICH) associated with mild anemia is commonly observed on radiological examination, and there are several reports of ruptured aneurysms occurring with ICH but without accompanying subarachnoid hemorrhage. However, the relationship among computed tomography (CT), magnetic resonance imaging (MRI), and intraoperative findings of ICH caused by ruptured cerebral aneurysm in patients with severe chronic anemia has been rarely reported and is poorly understood. Here, we report atypical radiological and intraoperative findings of acute ICH caused by ruptured cerebral aneurysm in a patient with severe chronic anemia. A 64-year-old man with anemia was admitted to our hospital after he experienced left hemiparesis and a disturbance of consciousness. At a referring institution, he showed evidence of macrocytic anemia (white blood cell count, 9,000/μL; red blood cell count, 104×10(4)/μL; hemoglobin, 4.0 g/dL; hematocrit, 12.2%; and platelet count, 26.6×10(4)/μL). Both CT and MRI showed a right frontal ICH. The outer ring of the hematoma appeared as low-density area on CT, a low-intensity area on T1-weighted MRI, and a high-intensity area on T2-weighted MRI with a serous component. The patient received a blood transfusion and underwent surgical removal of the hematoma the following day. The white serous effusion visualized with CT and MRI was identified as a blood clot in the hematoma cavity. The blood that leaks from blood vessels appears as a high-intensity area on CT because it undergoes plasma absorption in a solidification shrinkage process, and is, therefore, concentrated. Although we did not examine the white effusion to determine if serous components were present, we speculated that the effusion may have contained serous components. Therefore, we removed the part of the effusion that appeared as a low-density area on CT. The presence of ICH without subarachnoid hemorrhage suggested the possible adhesion and rupture of a previous

  1. Atypical Clinical Presentation of Sporotrichosis Caused by Sporothrix globosa Resistant to Itraconazole.

    Science.gov (United States)

    Fischman Gompertz, Olga; Rodrigues, Anderson M; Fernandes, Geisa F; Bentubo, Henri D L; de Camargo, Zoilo Pires; Petri, Valéria

    2016-06-01

    Sporotrichosis is a polymorphic disease of humans and animals, which is acquired via traumatic inoculation of Sporothrix propagules into cutaneous or subcutaneous tissue. The etiological agents are in a clinical complex, which includes Sporothrix brasiliensis, Sporothrix schenckii, Sporothrix globosa, and Sporothrix luriei, each of which has specific epidemiological and virulence characteristics. Classical manifestation in humans includes a fixed localized lesion at the site of trauma plus lymphocutaneous sporotrichosis with fungal spreading along the lymphatic channels. Atypical sporotrichosis is a challenge to diagnosis because it can mimic many other dermatological diseases. We report an unusual, itraconazole-resistant cutaneous lesion of sporotrichosis in a 66-year-old Brazilian man. Histopathological examination of the skin revealed vascular and fibroblastic proliferation with chronic granulomatous infiltrate composed of multinucleated giant cells. Sporothrix were isolated from the skin lesion, and phylogenetic analyses confirmed it to be sporotrichosis due to S. globosa, a widespread pathogen. Immunoblotting analysis showed several IgG-reactive molecules in autochthonous preparations of the whole cellular proteins (160, 80, 60, 55, 46, 38, 35, and 30 kDa) and exoantigen (35 and 33 kDa). The patient was first unsuccessfully treated with daily itraconazole, and then successfully treated with potassium iodide.

  2. Atypical Depression

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    Diseases and Conditions Atypical depression By Mayo Clinic Staff Any type of depression can make you feel sad and keep you from enjoying life. However, atypical depression — also called depression with atypical features — means that ...

  3. Staphylococcus aureus seroproteomes discriminate ruminant isolates causing mild or severe mastitis

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    Le Maréchal Caroline

    2011-02-01

    Full Text Available Abstract Staphylococcus aureus is a major cause of mastitis in ruminants. In ewe mastitis, symptoms range from subclinical to gangrenous mastitis. S. aureus factors or host-factors contributing to the different outcomes are not completely elucidated. In this study, experimental mastitis was induced on primiparous ewes using two S. aureus strains, isolated from gangrenous (strain O11 or subclinical (strain O46 mastitis. Strains induced drastically distinct clinical symptoms when tested in ewe and mice experimental mastitis. Notably, they reproduced mild (O46 or severe (O11 mastitis in ewes. Ewe sera were used to identify staphylococcal immunoreactive proteins commonly or differentially produced during infections of variable severity and to define core and accessory seroproteomes. Such SERological Proteome Analysis (SERPA allowed the identification of 89 immunoreactive proteins, of which only 52 (58.4% were previously identified as immunogenic proteins in other staphylococcal infections. Among the 89 proteins identified, 74 appear to constitute the core seroproteome. Among the 15 remaining proteins defining the accessory seroproteome, 12 were specific for strain O11, 3 were specific for O46. Distribution of one protein specific for each mastitis severity was investigated in ten other strains isolated from subclinical or clinical mastitis. We report here for the first time the identification of staphylococcal immunogenic proteins common or specific to S. aureus strains responsible for mild or severe mastitis. These findings open avenues in S. aureus mastitis studies as some of these proteins, expressed in vivo, are likely to account for the success of S. aureus as a pathogen of the ruminant mammary gland.

  4. [Anastomotic false-diverticulum causing an atypical dumping syndrome. A case report].

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    Covarelli, P; Esperti, L; Fratto, A; Cerroni, M; Marianeschi, P; Cristofani, R

    2003-02-01

    Aim of the study is to evaluate the causes of dumping syndromes following partial gastrectomies, and to report an unusual feature of dumping. A case of early dumping due to diverticular-like dilation of gastro-jejunal anastomosis is described with preoperative imaging and intraoperative picture. The surgical correction led to complete clinical remission; the common causes and physiopathological bases of dumping are reviewed and the role of en-Y gastro-jejunal reconstruction is underlined in order to reduce the risk of developing the syndrome.

  5. A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.

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    Zhang, Shu; Pondarre, Corinne; Pennarun, Gaelle; Labussiere-Wallet, Helene; Vera, Gabriella; France, Benoit; Chansel, Marie; Rouvet, Isabelle; Revy, Patrick; Lopez, Bernard; Soulier, Jean; Bertrand, Pascale; Callebaut, Isabelle; de Villartay, Jean-Pierre

    2016-05-30

    Inherited bone marrow failure syndromes are human conditions in which one or several cell lineages of the hemopoietic system are affected. They are present at birth or may develop progressively. They are sometimes accompanied by other developmental anomalies. Three main molecular causes have been recognized to result in bone marrow failure syndromes: (1) defects in the Fanconi anemia (FA)/BRCA DNA repair pathway, (2) defects in telomere maintenance, and (3) abnormal ribosome biogenesis. We analyzed a patient with mild bone marrow failure and microcephaly who did not present with the typical FA phenotype. Cells from this patient showed increased sensitivity to ionizing radiations and phleomycin, attesting to a probable DNA double strand break (dsb) repair defect. Linkage analysis and whole exome sequencing revealed a homozygous nonsense mutation in the ERCC6L2 gene. We identified a new ERCC6L2 alternative transcript encoding the DNA repair factor Hebo, which is critical for complementation of the patient's DNAdsb repair defect. Sequence analysis revealed three structured regions within Hebo: a TUDOR domain, an adenosine triphosphatase domain, and a new domain, HEBO, specifically present in Hebo direct orthologues. Hebo is ubiquitously expressed, localized in the nucleus, and rapidly recruited to DNAdsb's in an NBS1-dependent manner.

  6. A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

    Science.gov (United States)

    Zhang, Shu; Pondarre, Corinne; Pennarun, Gaelle; Labussiere-Wallet, Helene; Vera, Gabriella; France, Benoit; Chansel, Marie; Rouvet, Isabelle; Revy, Patrick; Lopez, Bernard; Soulier, Jean; Bertrand, Pascale; Callebaut, Isabelle

    2016-01-01

    Inherited bone marrow failure syndromes are human conditions in which one or several cell lineages of the hemopoietic system are affected. They are present at birth or may develop progressively. They are sometimes accompanied by other developmental anomalies. Three main molecular causes have been recognized to result in bone marrow failure syndromes: (1) defects in the Fanconi anemia (FA)/BRCA DNA repair pathway, (2) defects in telomere maintenance, and (3) abnormal ribosome biogenesis. We analyzed a patient with mild bone marrow failure and microcephaly who did not present with the typical FA phenotype. Cells from this patient showed increased sensitivity to ionizing radiations and phleomycin, attesting to a probable DNA double strand break (dsb) repair defect. Linkage analysis and whole exome sequencing revealed a homozygous nonsense mutation in the ERCC6L2 gene. We identified a new ERCC6L2 alternative transcript encoding the DNA repair factor Hebo, which is critical for complementation of the patient’s DNAdsb repair defect. Sequence analysis revealed three structured regions within Hebo: a TUDOR domain, an adenosine triphosphatase domain, and a new domain, HEBO, specifically present in Hebo direct orthologues. Hebo is ubiquitously expressed, localized in the nucleus, and rapidly recruited to DNAdsb’s in an NBS1-dependent manner. PMID:27185855

  7. Disruption of the endothelin A receptor in the nephron causes mild fluid volume expansion

    Directory of Open Access Journals (Sweden)

    Stuart Deborah

    2012-12-01

    Full Text Available Abstract Background Endothelin, via endothelin A receptors (ETA, exerts multiple pathologic effects that contribute to disease pathogenesis throughout the body. ETA antagonists ameliorate many experimental diseases and have been extensively utilized in clinical trials. The utility of ETA blockers has been greatly limited, however, by fluid retention, sometimes leading to heart failure or death. To begin to examine this issue, the effect of genetic disruption of ETA in the nephron on blood pressure and salt handling was determined. Methods Mice were generated with doxycycline-inducible nephron-specific ETA deletion using Pax8-rtTA and LC-1 transgenes on the background of homozygous loxP-flanked ETA alleles. Arterial pressure, Na metabolism and measures of body fluid volume status (hematocrit and impedance plethysmography were assessed. Results Absence of nephron ETA did not alter arterial pressure whether mice were ingesting a normal or high Na diet. Nephron ETA disruption did not detectably affect 24 hr Na excretion or urine volume regardless of Na intake. However, mice with nephron ETA knockout that were fed a high Na diet had mild fluid retention as evidenced by an increase in body weight and a fall in hematocrit. Conclusions Genetic deletion of nephron ETA causes very modest fluid retention that does not alter arterial pressure. Nephron ETA, under normal conditions, likely do not play a major role in regulation of Na excretion or systemic hemodynamics.

  8. Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

    DEFF Research Database (Denmark)

    Grønskov, Karen; Diness, Birgitte; Stahlhut, Michelle;

    2014-01-01

    to expand. Detection of the duplication by DNA sequencing was difficult due to preferential sequencing of the normal allele, demonstrating the superiority of fragment length analysis in mosaic cases. The clinical symptoms were mild to moderate developmental delay with only the hand dystonia to suggest...... Partington syndrome. This patient is the first male reported to be mosaic for the duplication, and his clinical features are subtle. This study shows that in males with a phenotype of mild Partington syndrome and in heterozygous females fragment length analysis should be preferred over DNA sequencing....

  9. TCM Therapeutic Strategy on Acute Lung Injury Caused by Infectious Atypical Pneumonia and Acute Respiratory Distress Syndrome

    Institute of Scientific and Technical Information of China (English)

    唐光华

    2003-01-01

    @@ Infectious atypical pneumonia (IAP) is also called severe acute respiratory syndrome (SARS) by WHO. In its development, around 20% of SARS can develop into the stage of acute lung injury (ALI) or acute respiratory distress syndrome (ARDS), active and effective treatment of it constitutes the important basis for lowering mortality and reducing secondary pulmonary function impairment and pulmonary fibrosis.

  10. Loss of Drosophila A-type lamin C initially causes tendon abnormality including disintegration of cytoskeleton and nuclear lamina in muscular defects.

    Science.gov (United States)

    Uchino, Ryo; Nonaka, Yu-Ki; Horigome, Tuneyoshi; Sugiyama, Shin; Furukawa, Kazuhiro

    2013-01-01

    Lamins are the major components of nuclear envelope architecture, being required for both the structural and informational roles of the nuclei. Mutations of lamins cause a spectrum of diseases in humans, including muscular dystrophy. We report here that the loss of the A-type lamin gene, lamin C in Drosophila resulted in pupal metamorphic lethality caused by tendon defects, matching the characteristics of human A-type lamin revealed by Emery-Dreifuss muscular dystrophy (EDMD). In tendon cells lacking lamin C activity, overall cell morphology was affected and organization of the spectraplakin family cytoskeletal protein Shortstop which is prominently expressed in tendon cells gradually disintegrated, notably around the nucleus and in a manner correlating well with the degradation of musculature. Furthermore, lamin C null mutants were efficiently rescued by restoring lamin C expression to shortstop-expressing cells, which include tendon cells but exclude skeletal muscle cells. Thus the critical function of A-type lamin C proteins in Drosophila musculature is to maintain proper function and morphology of tendon cells.

  11. Surgical management of cutaneous infection caused by atypical mycobacteria after penetrating injury: the hidden dangers of horticulture.

    Science.gov (United States)

    Holland, J; Smith, C; Childs, P A; Holland, A J

    1997-02-01

    We identified two patients in a 12-month period who presented with cutaneous infection and secondary lymph node involvement from atypical mycobacterial infection after minor gardening injuries. One patient had a coinfection with Nocardia asteroides. Both patients required multiple surgical interventions, despite appropriate antibiotic therapy, before resolution of the disease. The course of the infection was characterized by chronic relapses with complete healing at 12 to 18 months after the original injury. The identification and management of this clinical problem are reviewed.

  12. Atypical disseminated cutaneous histoplasmosis in an immunocompetent child, caused by an "aberrant" variant of Histoplasma capsulatum var. capsulatum

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    LACAZ Carlos da Silva

    1999-01-01

    Full Text Available A case of atypical disseminated cutaneous histoplasmosis in a five-year old, otherwise healthy child, native and resident in São Paulo metropolitan area is reported. Cutaneous lesions were clinically atypical. Histologic examination disclosed a granulomatous reaction but no fungal structures could be demonstrated by specific staining nor by immunohistochemical reaction. The fungus was isolated from biopsy material on two different occasions, confirming diagnosis of an unusual fungal infection. The fungus, originally thought to be a Sepedonium sp. due to the large sized, hyaline or brownish colored tuberculated macroconidia and to lack of dimorphism (yeast form at 37 °C produce H and M antigens, visualized by the immunodiffusion with rabbit anti-Histoplasma capsulatum hyperimmune serum. Patient?s serum sample was non reactive with H. capsulatum antigen by immunodiffusion, counterimmunoelectrophoresis and complement fixation tests, and immunoenzymatic assay failed to detect the specific circulating antigen. This serum was tested negative by double immunodiffusion when antigen obtained from one of the isolated samples was used. Both cultures were sent to Dr. Leo Kaufman, Ph.D. (Mycoses Immunodiagnostic Laboratory, CDC-Atlanta/USA, who identified them as H. capsulatum by the exoantigen and gen-probe tests. Both clinic and mycologic characteristics of the present case were atypical, suggesting the fungus isolated is an ?aberrant variant? of H. capsulatum var. capsulatum, as described by SUTTON et al. in 199719. Treatment with itraconazole 100 mg/day led to cure within 90 days

  13. Psychiatric syndromes associated with atypical chest pain

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    Nikolić Gordana

    2010-01-01

    Full Text Available Background/Aim. Chest pain often indicates coronary disease, but in 25% of patients there is no evidence of ischemic heart disease using standard diagnostic tests. Beside that, cardiologic examinations are repeated several times for months. If other medical causes could not be found, there is a possibility that chest pain is a symptom of psychiatric disorder. The aim of this study was to determine the presence of psychiatric syndromes, increased somatization, anxiety, stress life events exposure and characteristic of chest pain expression in persons with atypical chest pain and coronary patients, as well as to define predictive parameters for atypical chest pain. Method. We compared 30 patients with atypical chest pain (E group to 30 coronary patients (K group, after cardiological and psychiatric evaluation. We have applied: Mini International Neuropsychiatric Interview (MINI, The Symptom Checklist 90-R (SCL-90 R, Beck Anxiety Inventory (BAI, Holms-Rahe Scale of stress life events (H-R, Questionnaire for pain expression Pain-O-Meter (POM. Significant differences between groups and predictive value of the parameters for atypical chest pain were determined. Results. The E group participants compared to the group K were younger (33.4 ± 5.4 : 48.3 ± 6,4 years, p < 0.001, had a moderate anxiety level (20.4 ± 11.9 : 9.6 ± 3.8, p < 0.001, panic and somatiform disorders were present in the half of the E group, as well as eleveted somatization score (SOM ≥ 63 -50% : 10%, p < 0.01 and a higher H-R score level (102.0 ± 52.2 : 46.5 ± 55.0, p < 0.001. Pain was mild, accompanied with panic. The half of the E group subjects had somatoform and panic disorders. Conclusion. Somatoform and panic disorders are associated with atypical chest pain. Pain expression is mild, accompained with panic. Predictive factors for atypical chest pain are: age under 40, anxiety level > 20, somatization ≥ 63, presence of panic and somatoform disorders, H-R score > 102

  14. Connecting tubule-selective knockout of AQP2 causes a mild urinary concentrating defect

    DEFF Research Database (Denmark)

    Kortenoeven, Marleen; Pedersen, Nis Borbye; Fenton, Robert A.

    . However, rat, mouse and humans were shown to express AQP2 in the CNT, which is regulated by vasopressin. Besides this, micropuncture studies showed a substantial water reabsorption in the CNT. To study the role of AQP2 in the CNT, AQP2-CNT-KO mice were generated by mating mice harboring loxP sites around...... exon 3 of the AQP2 gene with mice expressing Cre recombinase driven by the promoter region of the B1 subunit of V-ATPase. It was shown previously that this leads to Cre activity in 50% of the principal cells in the CNT. Knockout and wildtype mice were kept in metabolic cages for a total of 5 days...... groups (2616±188 mOsm/l in knockout animals vs. 2758±177 in the wildtype). Altogether, these data show that the AQP2-CNT-KO mice demonstrate a mild urinary concentrating defect. However, when challenged with an injection of dDAVP, the knockout mice were able to concentrate their urine to the same extent...

  15. An Atypical Cause of Atypical Chest Pain

    OpenAIRE

    2014-01-01

    The present report describes a case involving a 57-year-old HIV-positive man who presented with acute retrosternal chest pain accompanied by 24 h of fever. Septic arthritis of the manubriosternal joint was diagnosed based on magnetic resonance imaging findings in addition to Staphylococcus aureus bacteremia. To the authors’ knowledge, the present case is only the 12th reported case of manubriosternal septic arthritis, and the first in an HIV-positive patient. Early diagnosis and treatment can...

  16. An atypical cause of atypical chest pain.

    Science.gov (United States)

    Zaheen, Ahmad; Siemieniuk, Reed A; Gudgeon, Patrick

    2014-09-01

    The present report describes a case involving a 57-year-old HIV-positive man who presented with acute retrosternal chest pain accompanied by 24 h of fever. Septic arthritis of the manubriosternal joint was diagnosed based on magnetic resonance imaging findings in addition to Staphylococcus aureus bacteremia. To the authors' knowledge, the present case is only the 12th reported case of manubriosternal septic arthritis, and the first in an HIV-positive patient. Early diagnosis and treatment can circumvent the need for surgical intervention. Based on the present case report and review of the literature, the authors summarize the epidemiology, appropriate imaging and suggestions for antibiotic therapy for this rare presentation.

  17. An Atypical Cause of Atypical Chest Pain

    Directory of Open Access Journals (Sweden)

    Ahmad Zaheen

    2014-01-01

    Full Text Available The present report describes a case involving a 57-year-old HIV-positive man who presented with acute retrosternal chest pain accompanied by 24 h of fever. Septic arthritis of the manubriosternal joint was diagnosed based on magnetic resonance imaging findings in addition to Staphylococcus aureus bacteremia. To the authors’ knowledge, the present case is only the 12th reported case of manubriosternal septic arthritis, and the first in an HIV-positive patient. Early diagnosis and treatment can circumvent the need for surgical intervention. Based on the present case report and review of the literature, the authors summarize the epidemiology, appropriate imaging and suggestions for antibiotic therapy for this rare presentation.

  18. NOVEL ATYPICAL ANTIPSYCHOTIC AGENTS

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    Vijay Vinay

    2011-05-01

    Full Text Available Antipsychotics are a group of drugs commonly but not exclusively used to treat psychosis. Antipsychotic agents are grouped in two categories: Typical and Atypical antipsychotics. The first antipsychotic was chlorpromazine, which was developed as a surgical anesthetic. The first atypical anti-psychotic medication, clozapine, was discovered in the 1950s, and introduced in clinical practice in the 1970s. Both typical and atypical antipsychotics are effective in reducing positive and negative symptoms of schizophrenia. Blockade of D2 receptor in mesolimbic pathway is responsible for antipsychotic action. Typical antipsychotics are not particularly selective and also block Dopamine receptors in the mesocortical pathway, tuberoinfundibular pathway, and the nigrostriatal pathway. Blocking D2 receptors in these other pathways is thought to produce some of the unwanted side effects. Atypical antipsychotics differ from typical psychotics in their "limbic-specific" dopamine type 2 (D2-receptor binding and high ratio of serotonin type 2 (5-HT2-receptor binding to D2. Atypical antipsychotics are associated with a decreased capacity to cause EPSs, TD, narcoleptic malignant syndrome, and hyperprolactinemia. Atypical antipsychotic agents were developed in response to problems with typical agents, including lack of efficacy in some patients, lack of improvement in negative symptoms, and troublesome adverse effects, especially extrapyramidal symptoms (EPSs and tardive dyskinesia (TD.

  19. Mild KCC2 hypofunction causes inconspicuous chloride dysregulation that degrades neural coding

    Directory of Open Access Journals (Sweden)

    Nicolas eDoyon

    2016-01-01

    Full Text Available Disinhibition caused by Cl- dysregulation is implicated in several neurological disorders. This form of disinhibition, which stems primarily from impaired Cl- extrusion through the co-transporter KCC2, is typically identified by a depolarizing shift in GABA reversal potential (EGABA. Here we show, using computer simulations, that intracellular [Cl-] exhibits exaggerated fluctuations during transient Cl- loads and recovers more slowly to baseline when KCC2 level is even modestly reduced. Using information theory and signal detection theory, we show that increased Cl- lability and settling time degrade neural coding. Importantly, these deleterious effects manifest after less KCC2 reduction than needed to produce the gross changes in EGABA required for detection by most experiments, which assess KCC2 function under weak Cl- load conditions. By demonstrating the existence and functional consequences of occult Cl- dysregulation, these results suggest that modest KCC2 hypofunction plays a greater role in neurological disorders than previously believed.

  20. Two cases of atypical mycobacteriosis caused by Mycobacterium szulgai associated with mortality in captive African elephants (Loxodonta africana).

    Science.gov (United States)

    Lacasse, Claude; Terio, Karen; Kinsel, Michael J; Farina, Lisa L; Travis, Dominic A; Greenwald, Rena; Lyashchenko, Konstantin P; Miller, Michele; Gamble, Kathryn C

    2007-03-01

    Mycobacterium szulgai was associated with mortality in two captive African elephants (Loxodonta africana) housed at Lincoln Park Zoo. The first elephant presented with severe, acute lameness of the left rear limb. Despite extensive treatments, the animal collapsed and died 13 mo after initial presentation. Necropsy revealed osteomyelitis with loss of the femoral head and acetabulum and pulmonary granulomas with intralesional M. szulgai. The second elephant collapsed during transport to another institution with no premonitory clinical signs. This animal was euthanized because of prolonged recumbency. Granulomatous pneumonia with intralesional M. szulgai was found at necropsy. Two novel immunoassays performed on banked serum samples detected antibody responses to mycobacterial antigens in both infected elephants. It was not possible to determine when the infection was established or how the elephants were infected. When reviewing the epidemiology of this organism in humans, however, transmission between elephants seemed unlikely because human-to-human transmission of this organism has never been reported and a third elephant in the herd was not affected. In addition to Mycobacterium bovis and Mycobacterium tuberculosis, atypical mycobacterial organisms need to be considered potentially pathogenic in elephants.

  1. Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.

    Science.gov (United States)

    Patiroglu, Turkan; Akar, H Haluk; Gilmour, Kimberly; Ozdemir, M Akif; Bibi, Shahnaz; Henriquez, Frances; Burns, Siobhan O; Unal, Ekrem

    2014-10-01

    Severe combined immunodeficiency (SCID) is a heterogeneous group of inherited defects involving the development of T- and/or B-lymphocytes. We report a female with atypical severe combined immunodeficiency caused by a novel homozygous mutation at cDNA position 2290 (c.2290C > T) in exon 2 of the RAG1 gene. The patient presented with bronchopneumonia, pyoderma gangrenosum (PG), pancytopenia and splenomegaly. She presented to us with pancytopenia and splenomegaly at the age of 11. Her condition was complicated by PG on left lower ankle at the age of 12. She experienced bronchopneumonia at the age of 15. She was diagnosed with RAG1 deficiency at the age of 16. Her immunological presentation included leucopenia and diminished number of B cells.

  2. Atypical Cities

    Science.gov (United States)

    DiJulio, Betsy

    2011-01-01

    In this creative challenge, Surrealism and one-point perspective combine to produce images that not only go "beyond the real" but also beyond the ubiquitous "imaginary city" assignment often used to teach one-point perspective. Perhaps the difference is that in the "atypical cities challenge," an understanding of one-point perspective is a means…

  3. Atypical form of cat scratch disease in immunocompetent patient

    Directory of Open Access Journals (Sweden)

    Kojić Miroslav

    2013-01-01

    Full Text Available Introduction. Cat scratch disease (CSD is an acute infectious disease with benign course caused by the bacteria Bartonella henselae. Clinically, it is usually manifested as regional lymphadenopathy and mild infective syndrome. Rare forms of the disease which usually occur in immunocompromised presons are: encephalitis, transverse myelitis, neuroretinitis, granulomatosus conjunctivitis, arthritis, hepatitis etc. Case report. We presented an atypical form of cat scratch disease in a young immunocompetent female person. The disease was manifested with prolonged fever, rash, purulent lymphadenitis and hepatitis. The diagnosis was based on characteristic patohystological finding and exclusion of the other causes of lymphadenopathy. The patient was treated by antibiotics for a few weeks, with surgical incision and drainage of the purulent lymphadenitis. Conclusion. Atypical forms of CSD could be an important differential-diagnostic problem, especially if there is no opportunity for serological confirmation of the disease.

  4. A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

    Directory of Open Access Journals (Sweden)

    Majida eCharif

    2015-10-01

    Full Text Available Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is associated to a mutation in OPA1, which encodes an inner mitochondrial dynamin involved in network fusion, cristae structure and mitochondrial genome maintenance. OPA1 cleavage is regulated by two m-AAA proteases, SPG7 and AFG3L2, which are respectively involved in Spastic Paraplegia 7 and Spino-Cerebellar Ataxia 28. Here, we identified a novel mutation c.1402C>T in AFG3L2, modifying the arginine 468 in cysteine in an evolutionary highly conserved arginine-finger motif, in a family with optic atrophy and mild intellectual disability. Ophthalmic examinations disclosed a loss of retinal nerve fibers on the temporal and nasal sides of the optic disk and a red-green dyschromatopsia. Thus, our results suggest that neuro-ophthalmological symptom as optic atrophy might be associated with AFG3L2 mutations, and should prompt the screening of this gene in patients with isolated and syndromic inherited optic neuropathies.

  5. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

    Science.gov (United States)

    Witteveen, Josefine S; Willemsen, Marjolein H; Dombroski, Thaís C D; van Bakel, Nick H M; Nillesen, Willy M; van Hulten, Josephus A; Jansen, Eric J R; Verkaik, Dave; Veenstra-Knol, Hermine E; van Ravenswaaij-Arts, Conny M A; Wassink-Ruiter, Jolien S Klein; Vincent, Marie; David, Albert; Le Caignec, Cedric; Schieving, Jolanda; Gilissen, Christian; Foulds, Nicola; Rump, Patrick; Strom, Tim; Cremer, Kirsten; Zink, Alexander M; Engels, Hartmut; de Munnik, Sonja A; Visser, Jasper E; Brunner, Han G; Martens, Gerard J M; Pfundt, Rolph; Kleefstra, Tjitske; Kolk, Sharon M

    2016-08-01

    Numerous genes are associated with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (ASD), but their dysfunction is often poorly characterized. Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature. This phenotype is highly related to that of individuals with atypical 15q24 microdeletions, linking SIN3A to this microdeletion syndrome. Brain magnetic resonance imaging showed subtle abnormalities, including corpus callosum hypoplasia and ventriculomegaly. Intriguingly, in vivo functional knockdown of Sin3a led to reduced cortical neurogenesis, altered neuronal identity and aberrant corticocortical projections in the developing mouse brain. Together, our data establish that haploinsufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be considered to be a key transcriptional regulator of cortical brain development.

  6. A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

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    Sunil Pawar

    2015-11-01

    Full Text Available Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa. They presented with repeated episodes of jaundice along with progressive decrease of vision in night. They had hepatosplenomegaly and portal hypertension with esophageal varices. One of the siblings had a large regenerating nodule replacing the entire right lobe of the liver and other one developed repeated hematemesis. This constellation of diagnosis belongs to the ciliopathy group of disorders. The spectrum of ciliopathy disorders has been evolving, and it varies from mild to severe manifestations.

  7. Structural and energetic basis of ALS-causing mutations in the atypical proline-tyrosine nuclear localization signal of the Fused in Sarcoma protein (FUS)

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Zi Chao; Chook, Yuh Min [UTSMC

    2012-10-02

    Mutations in the proline/tyrosine–nuclear localization signal (PY-NLS) of the Fused in Sarcoma protein (FUS) cause amyotrophic lateral sclerosis (ALS). Here we report the crystal structure of the FUS PY-NLS bound to its nuclear import receptor Karyopherinβ2 (Kapβ2; also known as Transportin). The FUS PY-NLS occupies the structurally invariant C-terminal arch of Kapβ2, tracing a path similar to that of other characterized PY-NLSs. Unlike other PY-NLSs, which generally bind Kapβ2 in fully extended conformations, the FUS peptide is atypical as its central portion forms a 2.5-turn α-helix. The Kapβ2-binding epitopes of the FUS PY-NLS consist of an N-terminal PGKM hydrophobic motif, a central arginine-rich α-helix, and a C-terminal PY motif. ALS mutations are found almost exclusively within these epitopes. Each ALS mutation site makes multiple contacts with Kapβ2 and mutations of these residues decrease binding affinities for Kapβ2 (KD for wild-type FUS PY-NLS is 9.5 nM) up to ninefold. Thermodynamic analyses of ALS mutations in the FUS PY-NLS show that the weakening of FUS-Kapβ2 binding affinity, the degree of cytoplasmic mislocalization, and ALS disease severity are correlated.

  8. A Rare Case: Atypical Measles

    OpenAIRE

    Ümmü Sena Sarı; Figen Kaptan

    2016-01-01

    Atypical measles has been described in persons who were exposed to wild measles virus several years after they were immunized with killed measles vaccine. Occasionally, it can be caused by live measles vaccines also. It is a clinical picture different from typical measles. In this report, an adult patient with a history of immunization, who presented with high fever, maculopapular rash starting at the palms and soles, and pneumonia, is presented. Atypical measles that was ...

  9. Spontaneous rupture of a hepatic hydatid cyst into the peritoneum causing only mild abdominal pain: A case report

    Institute of Scientific and Technical Information of China (English)

    Kemal Karakaya

    2007-01-01

    Hydatid disease is an endemic disease in certain areas of the world. It is located mostly in the liver. Spontaneous rupture of the hydatid cyst into the peritoneum is a rare condition, which is accompanied by serious morbidity and mortality generally. We present herein a case with a spontaneous rupture of a hepatic hidatid disease into the peritoneum without any serious symptoms. A 15-year-old boy was admitted to the emergency room with a mild abdominal pain lasting for a day. Physical examination revealed only mild abdominal tenderness. There was no history of trauma or complaints related to hydatid diseases. Ultrasonography showed a large amount of free fluid and a cystic lesion with irregular borders in the liver. He was operated on. Postoperative albendazol therapy was given for 2 mo. No recurrence or secondary hydatidosis was seen on CT investigation in the 3rd, 6th and 12th mo following surgery.

  10. Mild maternal iron deficiency anemia during pregnancy and lactation in guinea pigs causes abnormal auditory function in the offspring.

    Science.gov (United States)

    Jougleux, Jean-Luc; Rioux, France M; Church, Michael W; Fiset, Sylvain; Surette, Marc E

    2011-07-01

    Iron deficiency (ID) anemia (IDA) adversely affects different aspects of the nervous system such as myelinogenesis, neurotransmitters synthesis, brain myelin composition, and brain fatty acid and eicosanoid metabolism. Infant neurophysiological outcome in response to maternal IDA is underexplored, especially mild to moderate maternal IDA. Furthermore, most human research has focused on childhood ID rather than prenatal or neonatal ID. Thus, our study evaluated the consequences of mild maternal IDA during pregnancy and lactation on the offsprings' auditory function using the auditory brainstem response (ABR). This technique provides objective measures of auditory acuity, neural transmission times along the peripheral and brainstem portions of the auditory pathway, and postnatal brain maturation. Female guinea pigs (n = 10/group) were fed an iron sufficient diet (ISD) or an iron deficient diet (IDD) (144 and 11.7 mg iron/kg) during their acclimation, gestation, and lactation periods. From postnatal d (PNd) 9 onward, the ISD was given to all weaned offspring. ABR were collected from the offspring on PNd24 using a broad range of stimulus intensities in response to 2, 4, 8, 16, and 32 kHz tone pips. IDA siblings (n = 4), [corrected] compared with the IS siblings (n = 5), had significantly elevated ABR thresholds (hearing loss) in response to all tone pips. These physiological disturbances were primarily due to a sensorineural hearing loss, as revealed by the ABR's latency-intensity curves. These results indicate that mild maternal IDA during gestation and lactation altered the hearing and nervous system development of the young offspring.

  11. A Novel Closed-head Model of Mild Traumatic Brain Injury Caused by Primary Overpressure Blast to the Cranium Produces Sustained Emotional Deficits in Mice

    Directory of Open Access Journals (Sweden)

    Scott A Heldt

    2014-01-01

    Full Text Available Emotional disorders are a common outcome from mild traumatic brain injury (TBI in humans, but their pathophysiological basis is poorly understood. We have developed a mouse model of closed-head blast injury using an air pressure wave delivered to a small area on one side of the cranium, which we have used to create mild TBI. We found that 20-psi blasts in 3-month old C57BL/6 male mice yielded no obvious behavioral or histological evidence of brain injury, while 25-40 psi blasts produced transient anxiety in an open field arena but little histological evidence of brain damage. By contrast, 50-60 psi blasts resulted in anxiety-like behavior in an open field arena that became more evident with time after blast. In additional behavioral tests conducted 2-8 weeks after blast, 50-60 psi mice also demonstrated increased acoustic startle, perseverance of learned fear, and enhanced contextual fear, as well as depression-like behavior and diminished prepulse inhibition. We found no evident cerebral pathology, however, and only scattered axonal degeneration in brain sections from 50-60 psi mice 3-8 weeks after blast. Thus, the TBI caused by single 50-60 psi blasts in mice exhibits the minimal neuronal loss coupled to diffuse axonal injury characteristic of human mild TBI. A reduction in the abundance of a subpopulation of excitatory projection neurons in basolateral amygdala enriched in Thy1 was, however, observed. The reported link of this neuronal population to fear suppression suggests their damage by mild TBI may contribute to the heightened anxiety and fearfulness observed after blast in our mice. Our overpressure air blast model of concussion in mice will enable further studies of the mechanisms underlying the diverse emotional deficits seen after mild TBI.

  12. Primary blast causes mild, moderate, severe and lethal TBI with increasing blast overpressures: Experimental rat injury model

    Science.gov (United States)

    Mishra, Vikas; Skotak, Maciej; Schuetz, Heather; Heller, Abi; Haorah, James; Chandra, Namas

    2016-06-01

    Injury severity in blast induced Traumatic Brain Injury (bTBI) increases with blast overpressure (BOP) and impulse in dose-dependent manner. Pure primary blast waves were simulated in compressed gas shock-tubes in discrete increments. Present work demonstrates 24 hour survival of rats in 0–450 kPa (0–800 Pa•s impulse) range at 10 discrete levels (60, 100, 130, 160, 190, 230, 250, 290, 350 and 420 kPa) and determines the mortality rate as a non-linear function of BOP. Using logistic regression model, predicted mortality rate (PMR) function was calculated, and used to establish TBI severities. We determined a BOP of 145 kPa as upper mild TBI threshold (5% PMR). Also we determined 146–220 kPa and 221–290 kPa levels as moderate and severe TBI based on 35%, and 70% PMR, respectively, while BOP above 290 kPa is lethal. Since there are no standards for animal bTBI injury severity, these thresholds need further refinements using histopathology, immunohistochemistry and behavior. Further, we specifically investigated mild TBI range (0–145 kPa) using physiological (heart rate), pathological (lung injury), immuno-histochemical (oxidative/nitrosative and blood-brain barrier markers) as well as blood borne biomarkers. With these additional data, we conclude that mild bTBI occurs in rats when the BOP is in the range of 85–145 kPa.

  13. Clinical and Etiological Characteristics of Atypical Hand-Foot-and-Mouth Disease in Children from Chongqing, China: A Retrospective Study

    Directory of Open Access Journals (Sweden)

    Xiang Yan

    2015-01-01

    Full Text Available Background. Hand-foot-and-mouth disease (HFMD is a disease that had similar manifestations to chickenpox, impetigo, and measles, which is easy to misdiagnose and subsequently causes delayed therapy and subsequent epidemic. To date, no study has been conducted to report the clinical and epidemiological characteristics of atypical HFMD. Methods. 64 children with atypical HFMD out of 887 HFMD children were recruited, stool was collected, and viral VP1 was detected. Results. The atypical HFMD accounted for 7.2% of total HFMD in the same period (64/887 and there were two peaks in its prevalence in nonepidemic seasons. Ten children (15.6% had manifestations of neurologic involvement, of whom 4 (6.3% were diagnosed with severe HFMD and 1 with critically severe HFMD, but all recovered smoothly. Onychomadesis and desquamation were found in 14 patients (21.9% and 15 patients (23.4%, respectively. The most common pathogen was coxsackievirus A6 (CV-A6 which accounted for 67.2%, followed by nontypable enterovirus (26.6%, enterovirus 71 (EV-A71 (4.7%, and coxsackievirus A16 (A16 (1.5%. Conclusions. Atypical HFMD has seasonal prevalence. The manifestations of neurologic involvement in atypical HFMD are mild and usually have a good prognosis. CV-A6 is a major pathogen causing atypical HFMD, but not a major pathogen in Chongqing, China.

  14. Mechanism of blood-brain barrier impairment after mild traumatic brain injury caused by blast shock waves and its relationship with delayed nerve dysfunction

    Directory of Open Access Journals (Sweden)

    Zhao-xi XU

    2016-06-01

    Full Text Available Mild traumatic brain injury (mTBI caused by blast shock waves (BSWs is one of the most common injuries among soldiers in the war. Such mTBI can also happen in civilians if exposed to shock waves of accidental explosion disasters, bomb attacks by terrorists and so on. This injury often results in cognitive problems, memory dysfunction and emotional disorder, and these neurological deficits are closely related to the dysfunction or disruption of the blood-brain barrier (BBB. The present paper discusses mainly the relationship between dysfunction or disruption of BBB and inflammatory reaction in mild brain injury associated with explosive shock wave and effects of early intervention of oxidative stress injury, repairing the BBB and blocking inflammation on relieving delayed neurological deficits. DOI: 10.11855/j.issn.0577-7402.2016.05.15

  15. Treatment options for atypical optic neuritis

    Directory of Open Access Journals (Sweden)

    Amina Malik

    2014-01-01

    Full Text Available Context: Optic neuritis (ON is defined as inflammation of the optic nerve and can have various etiologies. The most common presentation in the US is demyelinating, or "typical" ON, usually associated with multiple sclerosis. This is in contrast to "atypical" causes of ON, which differ in their clinical presentation, management, and prognosis. These atypical cases are characterized by lack of eye pain, exudates, and hemorrhages on exam, very severe, bilateral or progressive visual loss, or with failure to recover vision. Aims: The aim was to describe the clinical presentations of atypical ON and their treatments. Settings and Design: Review article. Materials and Methods: Literature review. Results: Types of atypical ON identified include neuromyelitis optica, autoimmune optic neuropathy, chronic relapsing inflammatory optic neuropathy, idiopathic recurrent neuroretinitis, and optic neuropathy associated with systemic diseases. Atypical ON usually requires corticosteroid treatment and often will require aggressive immunosuppression. Conclusions: Unlike demyelinating ON, atypical ON requires treatment to preserve vision.

  16. [Atypical presentation of preeclampsia].

    Science.gov (United States)

    Ditisheim, A; Boulvain, M; Irion, O; Pechère-Bertschi, A

    2015-09-09

    Preeclampsia is a pregnancy-related syndrome, which still represents one of the major causes of maternal-fetal mortality and morbidity. Diagnosis can be made difficult due to the complexity of the disorder and its wide spectrum of clinical manifestations. In order to provide an efficient diagnostic tool to the clinician, medical societies regularly rethink the definition criteria. However, there are still clinical presentations of preeclampsia that escape the frame of the definition. The present review will address atypical forms of preeclampsia, such as preeclampsia without proteinuria, normotensive preeclampsia, preeclampsia before 20 weeks of gestation and post-partum preeclampsia.

  17. [Therapy for atypical facial pain].

    Science.gov (United States)

    Ishida, Satoshi; Kimura, Hiroko

    2009-09-01

    Atypical facial pain is a pain in the head, neck and the face, without organic causes. It is treated at departments of physical medicine, such as dental, oral and maxillofacial surgery, otolaryngology, cerebral surgery, or head and neck surgery. In primary care, it is considered to be a medically unexplained symptom (MUS), or a somatoform disorder, such as somatization caused by a functional somatic syndrome (FSS) by psychiatrists. Usually, patients consult departments of physical medicine complaining of physical pain. Therefore physicians in these departments should examine the patients from the holistic perspective, and identify organic diseases. As atypical facial pain becomes chronic, other complications, including psychiatric complaints other than physical pain, such as depression may develop. Moreover, physical, psychological, and social factors affect the symptoms by interacting with one another. Therefore, in examining atypical facial pain, doctors specializing in dental, oral and maxillofacial medicine are required to provide psychosomatic treatment that is based on integrated knowledge.

  18. Atypical manifestations of leptospirosis.

    Science.gov (United States)

    Rajapakse, Senaka; Rodrigo, Chaturaka; Balaji, Krishan; Fernando, Sumadhya Deepika

    2015-05-01

    Leptospirosis is an illness with a wide spectrum of clinical manifestations and severe illness affects nearly all organ systems. Serious and potentially life-threatening clinical manifestations of acute leptospirosis are caused by both direct tissue invasion by spirochaetes and by the host immune responses. In its severe form, leptospirosis can cause multi-organ dysfunction and death in a matter of days. Therefore it is critical to suspect and recognize the disease early, in order to initiate timely treatment. While the classical presentation of the disease is easily recognized by experienced clinicians practising in endemic regions, rarer manifestations can be easily missed. In this systematic review, we summarize the atypical manifestations reported in literature in patients with confirmed leptospirosis. Awareness of these unusual manifestations would hopefully guide clinicians towards early diagnosis.

  19. Atypical imaging appearances of intracranial meningiomas

    Energy Technology Data Exchange (ETDEWEB)

    O' Leary, S. [Radiology Department, Derriford Hospital, Plymouth (United Kingdom); Adams, W.M. [Radiology Department, Derriford Hospital, Plymouth (United Kingdom); Parrish, R.W. [Radiology Department, Derriford Hospital, Plymouth (United Kingdom); Mukonoweshuro, W. [Radiology Department, Derriford Hospital, Plymouth (United Kingdom)]. E-mail: William.mukonoweshuro@phnt.swest.nhs.uk

    2007-01-15

    Meningiomas are the commonest primary, non-glial intracranial tumours. The diagnosis is often correctly predicted from characteristic imaging appearances. This paper presents some examples of atypical imaging appearances that may cause diagnostic confusion.

  20. Causes and control of atypical newcastle disease in free-range chicken%放养土鸡非典型新城疫的病因分析及防控对策

    Institute of Scientific and Technical Information of China (English)

    高婷; 周五朵; 吴异健

    2015-01-01

    低发病率、低死亡率、高淘汰率、散发性的非典型新城疫是放养土鸡的主要疫病之一,其流行病学、临床症状、剖检病变等不同于传统典型新城疫,易被误诊,给土鸡养殖业造成巨大的经济损失。文中对放养土鸡非典型新城疫的流行特点、成因及防控措施等进行概述,以期为土鸡养殖业者提供参考。%The atypical Newcastle disease is one of the main diseases in free-range chickens with low morbidity and mortality and high attrition rate, and has caused huge economic losses in free-range chicken production. It is usually sporadic and different from typical Newcastle disease in epidemiology, clinical symptoms and pathological lesions. Here we summarized epidemic characteristics, causes, and control measures of atypical Newcastle disease to provide references for free-range chicken breeders.

  1. Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency.

    Science.gov (United States)

    Herreman, A; Hartmann, D; Annaert, W; Saftig, P; Craessaerts, K; Serneels, L; Umans, L; Schrijvers, V; Checler, F; Vanderstichele, H; Baekelandt, V; Dressel, R; Cupers, P; Huylebroeck, D; Zwijsen, A; Van Leuven, F; De Strooper, B

    1999-10-12

    Mutations in the homologous presenilin 1 (PS1) and presenilin 2 (PS2) genes cause the most common and aggressive form of familial Alzheimer's disease. Although PS1 function and dysfunction have been extensively studied, little is known about the function of PS2 in vivo. To delineate the relationships of PS2 and PS1 activities and whether PS2 mutations involve gain or loss of function, we generated PS2 homozygous deficient (-/-) and PS1/PS2 double homozygous deficient mice. In contrast to PS1(-/-) mice, PS2(-/-) mice are viable and fertile and develop only mild pulmonary fibrosis and hemorrhage with age. Absence of PS2 does not detectably alter processing of amyloid precursor protein and has little or no effect on physiologically important apoptotic processes, indicating that Alzheimer's disease-causing mutations in PS2, as in PS1, result in gain of function. Although PS1(+/-) PS2( -/-) mice survive in relatively good health, complete deletion of both PS2 and PS1 genes causes a phenotype closely resembling full Notch-1 deficiency. These results demonstrate in vivo that PS1 and PS2 have partially overlapping functions and that PS1 is essential and PS2 is redundant for normal Notch signaling during mammalian embryological development.

  2. Single episode of mild murine malaria induces neuroinflammation, alters microglial profile, impairs adult neurogenesis, and causes deficits in social and anxiety-like behavior.

    Science.gov (United States)

    Guha, Suman K; Tillu, Rucha; Sood, Ankit; Patgaonkar, Mandar; Nanavaty, Ishira N; Sengupta, Arjun; Sharma, Shobhona; Vaidya, Vidita A; Pathak, Sulabha

    2014-11-01

    Cerebral malaria is associated with cerebrovascular damage and neurological sequelae. However, the neurological consequences of uncomplicated malaria, the most prevalent form of the disease, remain uninvestigated. Here, using a mild malaria model, we show that a single Plasmodium chabaudi adami infection in adult mice induces neuroinflammation, neurogenic, and behavioral changes in the absence of a blood-brain barrier breach. Using cytokine arrays we show that the infection induces differential serum and brain cytokine profiles, both at peak parasitemia and 15days post-parasite clearance. At the peak of infection, along with the serum, the brain also exhibited a definitive pro-inflammatory cytokine profile, and gene expression analysis revealed that pro-inflammatory cytokines were also produced locally in the hippocampus, an adult neurogenic niche. Hippocampal microglia numbers were enhanced, and we noted a shift to an activated profile at this time point, accompanied by a striking redistribution of the microglia to the subgranular zone adjacent to hippocampal neuronal progenitors. In the hippocampus, a distinct decline in progenitor turnover and survival was observed at peak parasitemia, accompanied by a shift from neuronal to glial fate specification. Studies in transgenic Nestin-GFP reporter mice demonstrated a decline in the Nestin-GFP(+)/GFAP(+) quiescent neural stem cell pool at peak parasitemia. Although these cellular changes reverted to normal 15days post-parasite clearance, specific brain cytokines continued to exhibit dysregulation. Behavioral analysis revealed selective deficits in social and anxiety-like behaviors, with no change observed in locomotor, cognitive, and depression-like behaviors, with a return to baseline at recovery. Collectively, these findings indicate that even a single episode of mild malaria results in alterations of the brain cytokine profile, causes specific behavioral dysfunction, is accompanied by hippocampal microglial

  3. Atypical aging in Down syndrome.

    Science.gov (United States)

    Zigman, Warren B

    2013-01-01

    At present, there may be over 210,000 people with Down syndrome (DS) over the age of 55 in the United States (US) who have significant needs for augmented services due to circumstances related to ordinary and/or pathological aging. From 1979 through 2003, the birth prevalence of DS rose from 9.0 to 11.8 (31.1%) per 10,000 live births in 10 representative US regions. This increase, largely due to women conceiving after age 35, portends an ever-growing population of people with DS who may be subject to pathogenic aging. Whereas Trisomy 21 is one of the most widespread genetic causes of intellectual disability (ID), it still is one of the least understood of all genetic ID syndromes. While longevity in people with DS has improved appreciably in as modest a period as 30 years, age-specific risk for mortality still is considerably increased compared both with other people with ID or with the typically developing population. The penetrance of the phenotype is widely distributed, even though a consistent genotype is assumed in 95% of the cases. Some, but not all body systems, exhibit signs of premature or accelerated aging. This may be due to both genetic and epigenetic inheritance. We now know that the long-term outcome for people with DS is not as ominous as once contemplated; a number of people with DS are living into their late 60s and 70s with few if any major signs of pathogenic aging. Alzheimer's disease (AD), a devastating disease that robs a person of their memory, abilities and personality, is particularly common in elder adults with DS, but is not a certainty as originally thought, some 20% to 30% of elder adults with DS might never show any, or at most mild signs of AD. DS has been called a mature well-understood syndrome, not in need of further research or science funding. We are only beginning to understand how epigenetics affects the phenotype and it may be feasible in the future to alter the phenotype through epigenetic interventions. This chapter is

  4. Atypical Mucocutaneous Leishmaniasis Caused by Leishmania braziliensis in an Acquired Immunodeficiency Syndrome Patient: T-cell Responses and Remission of Lesions Associated with Antigen Immunotherapy

    Directory of Open Access Journals (Sweden)

    Da-Cruz Alda M

    1999-01-01

    Full Text Available An atypical case of acquired immunodeficiency syndrome-associated mucocutaneous lesions due to Leishmania braziliensis is described. Many vacuolated macrophages laden with amastigote forms of the parasite were found in the lesions. Leishmanin skin test and serology for leishmaniasis were both negative. The patient was resistant to therapy with conventional drugs (antimonial and amphotericin B. Interestingly, remission of lesions was achieved after an alternative combined therapy of antimonial associated with immunotherapy (whole promastigote antigens. Peripheral blood mononuclear cells were separated and stimulated in vitro with Leishmania antigens to test the lymphoproliferative responses (LPR. Before the combined immunochemotherapy, the LPR to leishmanial antigens was negligible (stimulation index - SI=1.4. After the first course of combined therapy it became positive (SI=4.17. The antigen responding cells were predominantly T-cells (47.5% most of them with CD8+ phenotype (33%. Very low CD4+ cells (2.2% percentages were detected. The increased T-cell responsiveness to leishmanial antigens after combined therapy was accompanied by interferon-g (IFN-g production as observed in the cell culture supernatants. In this patient, healing of the leishmaniasis lesions was associated with the induction of a specific T-cell immune response, characterized by the production of IFN-g and the predominance of the CD8+ phenotype among the Leishmania-reactive T-cells.

  5. Pseudoarthrosis in atypical femoral fracture: case report.

    Science.gov (United States)

    Giannotti, S; Bottai, V; Dell'Osso, G; De Paola, G; Ghilardi, M; Guido, G

    2013-11-01

    Atypical femoral fractures can be subsequent to a long-term biphosphonates treatment; they have a high frequency of delayed healing. The authors describe a femoral pseudoarthrosis of an atypical fracture treated with intramedullary nailing in a female after prolonged alendronate therapy. Atypical femoral fractures can be subsequent to a long-term biphosphonates treatment even if, in the literature, there is no clarity on the exact pathogenetic mechanism. The Task Force of the American Society for Bone and Mineral Research described the major and minor features to define atypical fractures and recommends that all the five major features must be present while minor features are not necessary. Another controversial aspect regarding the atypical femoral fractures is the higher frequency of the delayed healing that can be probably related to a suppressed bone turnover caused by a prolonged period of bisphosphonates treatment. This concept could be corroborated by the Spet Tc exam. In the case of a pseudoarthrosis, there is not a standardization of the treatment. In this report, the authors describe a femoral pseudoarthrosis of an atypical fracture treated with intramedullary nailing in a female after prolonged alendronate therapy; the patient was studied with clinical, bioumoral end SPECT-Tc exam of both femurs. Many studies show the relationship between bisphosphonates and the presence of atypical fractures. These fractures should be monitored more closely due to the risk of nonunion and they require considering an initial treatment with pharmacological augmentation to reduce the complications for the patient and the health care costs.

  6. Characterization of the atypical lymphocytes in African swine fever

    Science.gov (United States)

    Karalyan, Z. A.; Ter-Pogossyan, Z. R.; Abroyan, L. O.; Hakobyan, L. H.; Avetisyan, A. S.; Karalyan, N. Yu; Karalova, E. M.

    2016-01-01

    Aim: Atypical lymphocytes usually described as lymphocytes with altered shape, increased DNA amount, and larger size. For analysis of cause of genesis and source of atypical lymphocytes during African swine fever virus (ASFV) infection, bone marrow, peripheral blood, and in vitro model were investigated. Materials and Methods: Atypical lymphocytes under the influence of ASFV were studied for morphologic, cytophotometric, and membrane surface marker characteristics and were used in vivo and in vitro models. Results: This study indicated the increased size, high metabolic activity, and the presence of additional DNA amount in atypical lymphocytes caused by ASFV infection. Furthermore, in atypical lymphocytes, nuclear-cytoplasmic ratio usually decreased, compared to normal lymphocytes. In morphology, they looking like lymphocytes transformed into blasts by exposure to mitogens or antigens in vitro. They vary in morphologic detail, but most of them are CD2 positive. Conclusions: Our data suggest that atypical lymphocytes may represent an unusual and specific cellular response to ASFV infection. PMID:27536044

  7. Characterization of the atypical lymphocytes in African swine fever

    Directory of Open Access Journals (Sweden)

    Z. A. Karalyan

    2016-07-01

    Full Text Available Aim: Atypical lymphocytes usually described as lymphocytes with altered shape, increased DNA amount, and larger size. For analysis of cause of genesis and source of atypical lymphocytes during African swine fever virus (ASFV infection, bone marrow, peripheral blood, and in vitro model were investigated. Materials and Methods: Atypical lymphocytes under the influence of ASFV were studied for morphologic, cytophotometric, and membrane surface marker characteristics and were used in vivo and in vitro models. Results: This study indicated the increased size, high metabolic activity, and the presence of additional DNA amount in atypical lymphocytes caused by ASFV infection. Furthermore, in atypical lymphocytes, nuclear-cytoplasmic ratio usually decreased, compared to normal lymphocytes. In morphology, they looking like lymphocytes transformed into blasts by exposure to mitogens or antigens in vitro. They vary in morphologic detail, but most of them are CD2 positive. Conclusions: Our data suggest that atypical lymphocytes may represent an unusual and specific cellular response to ASFV infection.

  8. Atypical Centrioles During Sexual Reproduction

    Directory of Open Access Journals (Sweden)

    Tomer eAvidor-Reiss

    2015-04-01

    Full Text Available Centrioles are conserved, self-replicating, microtubule-based 9-fold symmetric subcellular organelles that are essential for proper cell division and function. Most cells have two centrioles and maintaining this number of centrioles is important for animal development and physiology. However, how animals gain their first two centrioles during reproduction is only partially understood. It is well established that in most animals, the centrioles are contributed to the zygote by the sperm. However, in humans and many animals, the sperm centrioles are modified in their structure and protein composition, or they appear to be missing altogether. In these animals, the origin of the first centrioles is not clear. Here, we review various hypotheses on how centrioles are gained during reproduction and describe specialized functions of the zygotic centrioles. In particular, we discuss a new and atypical centriole found in sperm and zygote, the proximal centriole-like structure (PCL. We also discuss another type of atypical centriole, the zombie centriole, which is degenerated but functional. Together, the presence of centrioles, PCL, and zombie centrioles suggests a universal mechanism of centriole inheritance among animals and new causes of infertility. Since the atypical centrioles of sperm and zygote share similar functions with typical centrioles in somatic cells, they can provide unmatched insight into centriole biology.

  9. Atypical Imaging Appearances of Meningioma

    Directory of Open Access Journals (Sweden)

    Ahmad Soltani shirazi

    2009-01-01

    Full Text Available "nIntroduction: Meningiomas are the commonest primary non-glial intracranial tumors. The diagnosis is usually correctly established on characteristic imaging appearances. Atypical meningiomas may be difficult to diagnose because of their similarity to other brain tumors. This paper presents one case of atypical meningioma, misdiagnosed primarily as glioblastoma multiforms (GBM by radiological techniques. "nCase report: A 15-year-old girl presented with a severe intermittent generalized headache that on occasion localized to retro-orbital and vertex. Other manifestations were blurred vision, photophobia, diplopia, weakness and clumsiness of the right hand. The result of systemic and neurological examinations was normal, except for a positive right hand drift test. MRI showed a large lobulated mass with peripheral edema, central necrosis and a heterogenous enhancement at the central part of the parietal lobe inducing to subfalcian herniation. Glioblastoma multiforms (GBM was misdiagnosed for the patient on the basis of MRI appearance. Pathology evaluation was compatible with meningioma (WHO grade I to II. The patient was operated and discharged with minimal right hand weakness. Physiotherapy was recommended to improve the remaining problems. "nConclusion: Atypical meningiomas may mimic other intracranical brain lesions and may cause misdiagnosis. It is important to be aware of these features in order to avoid misdiagnosis. "n"n  

  10. Atypical charles bonnet syndrome.

    Science.gov (United States)

    Arun, Priti; Jain, Rajan; Tripathi, Vaibhav

    2013-10-01

    Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision.

  11. ATYPICAL ANTIPSYCHOTICS FROM SCRATCH TO THE PRESENT

    Directory of Open Access Journals (Sweden)

    Ashish Chauhan*, Amit Mittal, Pradeep Kumar Arora

    2013-01-01

    Full Text Available Mental illness constitutes the second-largest disease burden in the United States. Psychosis is one of the most common and severe mental illnesses. It is an extremely devastating condition characterised by delusions, hallucinations, distortion of thoughts and deteriorating social functioning experiences. Psychosis in all human societies has approximately same incidence of occurrence as in accordance to “anthropo-parity principle.” It has large economic impact on various aspects of cognition, health, and quality of life which has devastated effects on its sufferers and facing them large economic burden. Psychosis (Schizophrenia is associated with an imbalance of the dopaminergic system, entailing hyper-stimulation of dopamine function in the brain, particularly in the mesolimbic pathway. Consequences of antipsychotic treatment are far reaching and expensive. Detrimental extrapyramidal side effects associated with conventional antipsychotics and non-compliance among patients limits long term treatment with conventional antipsychotics. It gives rise to a new class, atypical antipsychotics owning low propensity to cause EPS, efficacy against refractory cases and better control over negative symptoms, better tolerance and compliance along with lower relapse rate and safer adverse effect profile. Atypical antipsychotics have revolutionized the treatment of psychosis, now being the treatment of choice for patients with psychosis. The positive therapeutic experience with the atypical antipsychotics in the treatment of psychosis and their favourable effects outweighs their unfavourable adverse effects. Though atypical antipsychotics are widely prescribed in the treatment of schizophrenia, however not a single atypical antipsychotic drug having any exceptional efficacy and safety profile. Thus, there is still a lot of research needed to be carried out in the development of novel atypical antipsychotics. This review is comprehensive appraisal about

  12. Effects of non-traumatogenic cause on rehabilitation in mild and moderate traumatic brain injury patients%非致伤因素对轻中型颅脑损伤恢复期的影响

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Background: It is well know that prognosis of traumatic brain injury (TBI) has direct effected by injury degree. Although obvious injury is not detected by CT or MRI, some patients have bad prognosis. Objective: To discuss no efficient cause on rehabilitation in mild and moderate traumatic brain injury patients. Design: The research and follow-up survey are given to patients who have mild and moderate traumatic brain injury in our hospital (1996.6~ 2001.6). Unit: 251 Hospital of PLA.

  13. Atypical delta sup(13) C signature in Globigerina bulloides at the ODP site 723A (Arabian Sea): Implications of environmental changes caused by upwelling

    Digital Repository Service at National Institute of Oceanography (India)

    Naidu, P.D; Niitsuma, N.

    , the environmental changes caused by the variations of upwelling intensity during Holocene and last glacial maximum also affected the down-core delta sup(13) C record of G. bulloides in the Arabian Sea. Significant ontogenic differences in both delta sup(18) O...

  14. 不典型乳腺纤维腺瘤的超声误诊分析%To evaluate the misdiagnosing causes of atypical breast fibroadenoma were detected with ultrasound

    Institute of Scientific and Technical Information of China (English)

    郭志洁; 郑惟; 丁玉晶; 赵灵芝; 陈湘玲; 赵岩

    2014-01-01

    Objective To analysis of two dimensional (2D) and color doppler ultrasonographic features in atypical breast fibroadenoma and to evaluate the causes that the patients were misdiagnosised as the atypical breast fi-broadenoma with ultrasound. Methods We had used a retrospective study, to analysis the causes that 25 patients had received surgical treatment and had definite pathological diagnosis but they were misdiagnosised as breast tumor with 2D and color doppler ultrasound. Results The ultrasonographic features is showed vary feature in breast fibroadeno-ma, which include lobulation,irregular shape,an unclear capsule, speculate, small enhancement calcification in mass, ultrasonic attennation behind mass. The positive rate of the breast fibroadenoma with ascularized mass were detected with ultrasound was 64%(16/25). Resistance index range were 0.5~0.8. Conclusion The ultrasound imaging in the breast fibroadenoma are diverse, in order to reduce its misdiagnosing rate,we should pay attention to the sonographic overlapping of different breast masses, reliance on history and ultrasonic signs and blood flow distribution and resis-tance indexis often needed.%目的:分析不典型乳腺纤维腺瘤的二维及彩色多普勒声像图特征,探讨超声误诊原因。方法对25例经手术病理证实为乳腺纤维腺瘤,超声误诊为乳腺恶性肿块的二维及彩色多普勒声像特征进行回顾性分析。结果不典型乳腺纤维腺瘤二维表现呈分叶状,形态不规则,可见角状突起,无明显包膜,部分内部可见强回声钙化灶及后方可见声衰减。血流信号检出率为64%(16/25),阻力指数范围0.5~0.8。结论不典型乳腺纤维腺瘤复杂多样,单凭超声图像较易与恶性肿块产生重叠现象,需结合患者病史、肿块声像特征、血流分布、阻力指数及有无微钙化灶进行综合性分析,才能减少超声误诊率。

  15. Atypical Optic Neuritis.

    Science.gov (United States)

    Gaier, Eric D; Boudreault, Katherine; Rizzo, Joseph F; Falardeau, Julie; Cestari, Dean M

    2015-12-01

    Classic demyelinative optic neuritis is associated with multiple sclerosis and typically carries a good prognosis for visual recovery. This disorder is well characterized with respect to its presentation and clinical features by baseline data obtained through the optic neuritis treatment trial and numerous other studies. Atypical optic neuritis entails clinical manifestations that deviate from this classic pattern of features. Clinical signs and symptoms that deviate from the typical presentation should prompt consideration of less common etiologies. Atypical features to consider include lack of pain, simultaneous or near-simultaneous onset, lack of response to or relapse upon tapering from corticosteroids, or optic nerve head or peripapillary hemorrhages. The most important alternative etiologies to consider and the steps towards their respective diagnostic evaluations are suggested for these atypical features.

  16. Repeated mild lateral fluid percussion brain injury in the rat causes cumulative long-term behavioral impairments, neuroinflammation, and cortical loss in an animal model of repeated concussion.

    Science.gov (United States)

    Shultz, Sandy R; Bao, Feng; Omana, Vanessa; Chiu, Charlotte; Brown, Arthur; Cain, Donald Peter

    2012-01-20

    There is growing evidence that repeated brain concussion can result in cumulative and long-term behavioral symptoms, neuropathological changes, and neurodegeneration. Little is known about the factors and mechanisms that contribute to these effects. The current study addresses the need to investigate and better understand the effects of repeated concussion through the development of an animal model. Male Long-Evans rats received 1, 3, or 5 mild lateral fluid percussion injuries or sham injuries spaced 5 days apart. After the final injury, rats received either a short (24 h) or long (8 weeks) post-injury recovery period, followed by a detailed behavioral analysis consisting of tests for rodent anxiety-like behavior, cognition, social behavior, sensorimotor function, and depression-like behavior. Brains were examined immunohistochemically to assess neuroinflammation and cortical damage. Rats given 1, 3, or 5 mild percussion injuries displayed significant short-term cognitive impairments. Rats given repeated mild percussion injuries displayed significantly worse short- and long-term cognitive impairments. Rats given 5 mild percussion injuries also displayed increased anxiety- and depression-like behaviors. Neuropathological analysis revealed short-term neuroinflammation in 3-injury rats, and both short- and long-term neuroinflammation in 5-injury rats. There was also evidence that repeated injuries induced short- and long-term cortical damage. These cumulative and long-term changes are consistent with findings in human patients suffering repeated brain concussion, provide support for the use of repeated mild lateral fluid percussion injuries to study repeated concussion in the rat, and suggest that neuroinflammation may be important for understanding the cumulative and chronic effects of repeated concussion.

  17. Atypical visuomotor performance in children with PDD

    NARCIS (Netherlands)

    Schlooz, W.A.J.M.; Hulstijn, W.

    2012-01-01

    Children with autism spectrum disorders (ASD) frequently encounter difficulties in visuomotor tasks, which are possibly caused by atypical visuoperceptual processing. This was tested in children (aged 9–12 years) with pervasive developmental disorder (PDD; including PDD-NOS and Asperger syndrome), a

  18. Atypical idiopathic inflammatory demyelinating lesions

    DEFF Research Database (Denmark)

    Wallner-Blazek, Mirja; Rovira, Alex; Fillipp, Massimo;

    2013-01-01

    Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can be class...

  19. Atypical charles bonnet syndrome

    Directory of Open Access Journals (Sweden)

    Priti Arun

    2013-01-01

    Full Text Available Charles Bonnet syndrome (CBS is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision.

  20. Controlled Low-Pressure Blast-Wave Exposure Causes Distinct Behavioral and Morphological Responses Modelling Mild Traumatic Brain Injury, Post-Traumatic Stress Disorder, and Comorbid Mild Traumatic Brain Injury-Post-Traumatic Stress Disorder.

    Science.gov (United States)

    Zuckerman, Amitai; Ram, Omri; Ifergane, Gal; Matar, Michael A; Sagi, Ram; Ostfeld, Ishay; Hoffman, Jay R; Kaplan, Zeev; Sadot, Oren; Cohen, Hagit

    2017-01-01

    The intense focus in the clinical literature on the mental and neurocognitive sequelae of explosive blast-wave exposure, especially when comorbid with post-traumatic stress-related disorders (PTSD) is justified, and warrants the design of translationally valid animal studies to provide valid complementary basic data. We employed a controlled experimental blast-wave paradigm in which unanesthetized animals were exposed to visual, auditory, olfactory, and tactile effects of an explosive blast-wave produced by exploding a thin copper wire. By combining cognitive-behavioral paradigms and ex vivo brain MRI to assess mild traumatic brain injury (mTBI) phenotype with a validated behavioral model for PTSD, complemented by morphological assessments, this study sought to examine our ability to evaluate the biobehavioral effects of low-intensity blast overpressure on rats, in a translationally valid manner. There were no significant differences between blast- and sham-exposed rats on motor coordination and strength, or sensory function. Whereas most male rats exposed to the blast-wave displayed normal behavioral and cognitive responses, 23.6% of the rats displayed a significant retardation of spatial learning acquisition, fulfilling criteria for mTBI-like responses. In addition, 5.4% of the blast-exposed animals displayed an extreme response in the behavioral tasks used to define PTSD-like criteria, whereas 10.9% of the rats developed both long-lasting and progressively worsening behavioral and cognitive "symptoms," suggesting comorbid PTSD-mTBI-like behavioral and cognitive response patterns. Neither group displayed changes on MRI. Exposure to experimental blast-wave elicited distinct behavioral and morphological responses modelling mTBI-like, PTSD-like, and comorbid mTBI-PTSD-like responses. This experimental animal model can be a useful tool for elucidating neurobiological mechanisms underlying the effects of blast-wave-induced mTBI and PTSD and comorbid mTBI-PTSD.

  1. An atypical mycobacterial infection of the shoulder

    Directory of Open Access Journals (Sweden)

    Christopher L Talbot

    2012-01-01

    Full Text Available Mycobacterium malmoense is an acid-fast non-tuberculous organism that most commonly causes pulmonary infection. Extrapulmonary infection has also been reported. With an increased emphasis being placed on the clinical importance of this organism, especially within Europe, we report the first case of septic arthritis of the shoulder caused by this organism. We also highlight the importance of considering atypical mycobacterium infection in the differential diagnosis of shoulder infection and issues surrounding the management of this entity.

  2. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

    Science.gov (United States)

    Shen, Wenjing; Han, Dong; Zhang, Jin; Zhao, Hongshan; Feng, Hailan

    2011-09-01

    Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous EVC2 mutations, IVS5-2A > G and c.2653C > T (Arg885X), were identified in the patient. The IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family.

  3. Intracranial Tuberculoma Presenting as Atypical Eclampsia: A Case Report

    Science.gov (United States)

    Murugesan, Sharmila; Pradeep, Sunitha; John, Lopamudra; Kolluru, Vasavi

    2016-01-01

    Occurrence of eclampsia before 20 weeks of pregnancy and after 48 hours of delivery in the absence of typical signs of hypertension and or proteinuria is termed as atypical eclampsia. Atypical or non-classic eclampsia will have some symptoms of eclampsia but without the usual proteinuria or hypertension. All patients with atypical onset should undergo neurological evaluation to rule out neurologic causes of seizures. Cerebral tuberculosis is a rare and serious form of disease secondary to haematogenous spread of Mycobacterium tuberculosis. Here we present a case of cerebral tuberculoma with seizures in late pregnancy mimicking eclampsia. PMID:27504359

  4. An atypical case of segmental spinal dysgenesis

    Energy Technology Data Exchange (ETDEWEB)

    Zana, Elodie; Chalard, Francois; Sebag, Guy [Hopital Robert Debre, Department of Paediatric Imaging, Paris (France); Mazda, Keyvan [Hopital Robert Debre, Department of Paediatric Orthopaedic Surgery, Paris (France)

    2005-09-01

    Spinal segmental dysgenesis is a complex closed dysraphism. The diagnostic criteria are: lumbar or thoracolumbar vertebral dysgenesis causing kyphosis, focal spinal cord narrowing without exiting roots, deformity of the lower limbs and paraplegia or paraparesis. We present a newborn who showed atypical features of bifocal spinal cord narrowing, without any vertebral abnormality at the proximal level. This seems to be a variant of this rare entity, whose early diagnosis is important, as surgical stabilisation of the spine is required. (orig.)

  5. Atypical presentations of methemoglobinemia from benzocaine spray.

    Science.gov (United States)

    Tantisattamo, Ekamol; Suwantarat, Nuntra; Vierra, Joseph R; Evans, Samuel J

    2011-06-01

    Widely used for local anesthesia, especially prior to endoscopic procedures, benzocaine spray is one of the most common causes of iatrogenic methemoglobinemia. The authors report an atypical case of methemoglobinemia in a woman presenting with pale skin and severe hypoxemia, after a delayed repeat exposure to benzocaine spray. Early recognition and prompt management of methemoglobinemia is needed in order to lessen morbidity and mortality from this entity.

  6. Atypical depression in the structure of organic mental disorders (literature review

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    Leonov S.F.

    2014-09-01

    Full Text Available The review of literature presents current data on cli¬nical picture and diagnostics of atypical depression. Rubric “atypical depression” includes a variety of depressive states characterized by reactively caused changes of mood, sensitivity to interpersonal contacts, inverted vegetative and somatic symptoms such as increased appetite and hypersomnia. The article considers the place of atypical depression in the structure of organic mental disorders. Positions of foreign authors that produce atypical depression as a clinical entity in the structure of Bipolar affective disorder II type are represented, the views of other authors on the structure of atypical depression are considered. The analysis of national concept of non-circular depression is carried out. Questions of atypical affective conditions acquire special significance due to preparation of International Classification of Diseases of the 11th revision, because inclusion in it of Bipolar affective disorder II type, a manifestation of which is considered to be atypical depressions, is under discussion.

  7. Atypical sonographic patterns of fibroadenoma of the breast : pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Kook, Shin Ho; Kim, Myung Sook; Pae, Won Kil [Kangbuk Samsung Hospital, Sungkyunkwan Univ. College of Medicine, Seoul (Korea, Republic of)

    1999-03-01

    To correlate the atypical sonographic patterns of fibroadenoma of the breast with the pathologic findings. Among 203 surgically proven 43 which were sonographically atypical fibroadenomas, were retrospectively reviewed. The diagnostic criteria for atypical variety, as seen on sonography, were an ill-defined margin, microlobulated or irregular shape, heterogeneous internal echo-pattern, posterior shadowing, microcalcification, and clefts. The atypical sonographic patterns of these 43 fibroadenomas were analysed and compared with the pathologic findings. Among 43 lesions, ill-defined margins or irregular shapes were seen in 15 cases, heterogeneous internal echo-patterns in 27, posterior attenuation in nine, and clefts in seven. Thirty-seven (86%) of the 43 were predominantly ductal or had a mixed ductal and stromal component. Eleven (73.3%) of fifteen ill-defined margin or irregular shaped lesions were caused by interdigitation of surrounding normal breast parenchyma and mass. Twenty two (81.5%) of 27 heterogeneous internal echo-pat-terns were related to dilated ducts, phyllodes features, collagen bundles, adenosis, microcalcification, or fat vacuoles. Eight (88.9%) of nine posterior attenuations were caused by collagen bundles, microcalcification, ductal proliferation or dilatation. All seven cases showing clefts revealed phyllodes features and dilated ducts. Most atypical fibroadenomas had a predominantly ductal or mixed component. Ill-defined margin or irregular shape was mainly due to interdigitation of normal surrounding parenchyma. Variable histologic features were related to the heterogeneous internal echo-pattern, posterior shadowing, and the clefts revealed by atypical sonographic findings.

  8. A novel mutation of the ACADM gene (c.145C>G associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

    Directory of Open Access Journals (Sweden)

    Briand Gilbert

    2010-10-01

    Full Text Available Abstract A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vomiting, was sub-febrile and hypoglycemic, fell into coma, developed seizures and sequels involving right hemi-body. Urinary excretion of hexanoylglycine and suberylglycine was low during this metabolic decompensation. A study of pre- and post-prandial blood glucose and ketones over a period of 24 hours showed a normal glycaemic cycle but a failure to form ketones after 12 hours fasting, suggesting a mitochondrial β-oxidation defect. Total blood carnitine was lowered with unesterified carnitine being half of the lowest control value. A diagnosis of mild MCAD deficiency (MCADD was based on rates of 1-14C-octanoate and 9, 10-3H-myristate oxidation and of octanoyl-CoA dehydrogenase being reduced to 25% of control values. Other mitochondrial fatty acid oxidation proteins were functionally normal. De novo acylcarnitine synthesis in whole blood samples incubated with deuterated palmitate was also typical of MCADD. Genetic studies showed that the patient was compound heterozygous with a sequence variation in both of the two ACADM alleles; one had the common c.985A>G mutation and the other had a novel c.145C>G mutation. This is the first report for the ACADM gene c.145C>G mutation: it is located in exon 3 and causes a replacement of glutamine to glutamate at position 24 of the mature protein (Q24E. Associated with heterozygosity for c.985A>G mutation, this mutation is responsible for a mild MCADD phenotype along with a clinical story corroborating the emerging literature view that patients with genotypes representing mild MCADD (high residual enzyme activity and low urinary levels of glycine conjugates, similar to some of the mild MCADDs detected by MS/MS newborn screening, may be at risk for disease presentation.

  9. Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

    OpenAIRE

    2014-01-01

    Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA). We present the one-year treatment outcome of a patient on a lysine-restricted diet. Serial cerebral-spinal-fluid (CSF) α-AASA and CSF pipecolic-acid levels showed decreased levels but did not normalize. He had a normal neurodevelopmental ...

  10. TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

    Science.gov (United States)

    Boileau, Catherine; Guo, Dong-Chuan; Hanna, Nadine; Regalado, Ellen S.; Detaint, Delphine; Gong, Limin; Varret, Mathilde; Prakash, Siddharth; Li, Alexander H.; d’Indy, Hyacintha; Braverman, Alan C.; Grandchamp, Bernard; Kwartler, Callie S.; Gouya, Laurent; Santos-Cortez, Regie Lyn P.; Abifadel, Marianne; Leal, Suzanne M.; Muti, Christine; Shendure, Jay; Gross, Marie-Sylvie; Rieder, Mark J.; Vahanian, Alec; Nickerson, Deborah A.; Michel, Jean Baptiste; Jondeau, Guillaume; Milewicz, Dianna M.

    2014-01-01

    A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease, followed by whole exome sequencing of affected relatives, identified causative mutations in TGFB2. These mutations, a frameshift mutation in exon 6 and a nonsense mutation in exon 4, segregated with disease with a combined LOD score of 7.7. Sanger sequencing of 276 probands from families with inherited thoracic aortic disease identified two additional TGFB2 mutations. TGFB2 encodes the transforming growth factor beta-2 (TGF-β2) and the mutations are predicted to cause haploinsufficiency for TGFB2, but aortic tissue from cases paradoxically shows increased TGF-β2 expression and immunostaining. Thus, haploinsufficiency of TGFB2 predisposes to thoracic aortic disease, suggesting the initial pathway driving disease is decreased cellular TGF-β2 levels leading to a secondary increase in TGF-β2 production in the diseased aorta. PMID:22772371

  11. Atypical Odontalgia (Phantom Tooth Pain)

    Science.gov (United States)

    ... atypical facial pain, phantom tooth pain, or neuropathic orofacial pain, is characterized by chronic pain in a ... such as a specialist in oral medicine or orofacial pain. The information contained in this monograph is ...

  12. Atypical GTPases as drug targets.

    Science.gov (United States)

    Soundararajan, Meera; Eswaran, Jeyanthy

    2012-01-01

    The Ras GTPases are the founding members of large Ras superfamily, which constitutes more than 150 of these important class of enzymes. These GTPases function as GDP-GTP-regulated binary switches that control many fundamental cellular processes. There are a number of GTPases that have been identified recently, which do not confine to this prototype termed as "atypical GTPases" but have proved to play a remarkable role in vital cellular functions. In this review, we provide an overview of the crucial physiological functions mediated by RGK and Centaurin class of multi domain atypical GTPases. Moreover, the recently available atypical GTPase structures of the two families, regulation, physiological functions and their critical roles in various diseases will be discussed. In summary, this review will highlight the emerging atypical GTPase family which allows us to understand novel regulatory mechanisms and thus providing new avenues for drug discovery programs.

  13. Atypical Light Curves

    CERN Document Server

    Steenwyk, Steven D; Molnar, Lawrence A

    2013-01-01

    We have identified some two-hundred new variable stars in a systematic study of a data archive obtained with the Calvin-Rehoboth observatory. Of these, we present five close binaries showing behaviors presumably due to star spots or other magnetic activity. For context, we first present two new RS CVn systems whose behavior can be readily attribute to star spots. Then we present three new close binary systems that are rather atypical, with light curves that are changing over time in ways not easily understood in terms of star spot activity generally associated with magnetically active binary systems called RS CVn systems. Two of these three are contact binaries that exhibit gradual changes in average brightness without noticeable changes in light curve shape. A third system has shown such large changes in light curve morphology that we speculate this may be a rare instance of a system that transitions back and forth between contact and noncontact configurations, perhaps driven by magnetic cycles in at least o...

  14. Mitochondrial DNA sequence analysis of patients with 'atypical psychosis'.

    Science.gov (United States)

    Kazuno, An-A; Munakata, Kae; Mori, Kanako; Tanaka, Masashi; Nanko, Shinichiro; Kunugi, Hiroshi; Umekage, Tadashi; Tochigi, Mamoru; Kohda, Kazuhisa; Sasaki, Tsukasa; Akiyama, Tsuyoshi; Washizuka, Shinsuke; Kato, Nobumasa; Kato, Tadafumi

    2005-08-01

    Although classical psychopathological studies have shown the presence of an independent diagnostic category, 'atypical psychosis', most psychotic patients are currently classified into two major diagnostic categories, schizophrenia and bipolar disorder, by the Diagnostic and Statistical Manual of Mental Disorders (4th edn; DSM-IV) criteria. 'Atypical psychosis' is characterized by acute confusion without systematic delusion, emotional instability, and psychomotor excitement or stupor. Such clinical features resemble those seen in organic mental syndrome, and differential diagnosis is often difficult. Because patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) sometimes show organic mental disorder, 'atypical psychosis' may be caused by mutations of mitochondrial DNA (mtDNA) in some patients. In the present study whole mtDNA was sequenced for seven patients with various psychotic disorders, who could be categorized as 'atypical psychosis'. None of them had known mtDNA mutations pathogenic for mitochondrial encephalopathy. Two of seven patients belonged to a subhaplogroup F1b1a with low frequency. These results did not support the hypothesis that clinical presentation of some patients with 'atypical psychosis' is a reflection of subclinical mitochondrial encephalopathy. However, the subhaplogroup F1b1a may be a good target for association study of 'atypical psychosis'.

  15. Micobactérias atípicas em biopróteses: causa potencial de endocardite com culturas negativas Atypical mycobacteria on bioprostheses: potential cause for culture-negative endocarditis

    Directory of Open Access Journals (Sweden)

    Ivan S. J Casagrande

    1986-08-01

    Full Text Available O crescimento de micobactérias atípicas foi observado em estudos experimentais in vitro de fragmentos de válvulas aórticas porcinas após tanning em solução de glutaraldeído a 0,625%. Foram incubados 100 fragmentos de valvas distintas em 4 meios de cultura diferentes, em um total de 400 culturas, utilizando-se os meios de Thioglycollate, Brain-Heart-Infusion, Sabouraud-Dextrose liqüido e Micosel, que permaneceram estéreis por 72 horas. Prolongando-se o tempo de incubação e utilizando-se técnicas especiais de repique e meios especiais para as subculturas, verificou-se o crescimento de micobactérias atípicas a partir do 5? dia, em 23% das amostras, a partir de culturas nos meios de Thioglycollate e Sabouraud, identificados laboratorialmente como Mycobacterium chelonei. Testes posteriores demonstraram resistência desta micobactéria à ação bactericida do glutaraldeído e sua eliminação completa ocorreu após a ação do formaldeído associado ao surfactante.The growth of atypical mycobacteria was observed in experimental studies in vitro of porcine aortic valve (aortic wall coupon after tanning in glutaraldehyde solution at 0.625%. One hundred aortic wall coupons from different valves were incubated in 4 different culture media in a total of 400 cultures, employing the Thioglycollate, Brain-Heart-Infusion, liquid Sabouraud-Dextrose and Micosel, which did not become positive for 72 hours. The growth of atypical mycobacteria was recognized in 23% of the samples from the Thioglycollate and Sabouraud media after the 5th day utilizing appropriate subculturing techniques and special culture media. The atypical mycobacteria were identifyed as the Mycobacterium chelonei, which was demonstrated to be resistant to glutaraldehyde and it was completely eliminated by the formaldehyde in association with the surfactant.

  16. A case of atypical progressive supranuclear palsy

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    Spaccavento S

    2013-12-01

    Full Text Available Simona Spaccavento, Marina Del Prete, Angela Craca, Anna Loverre IRCCS Salvatore Maugeri Foundation, Cassano Murge, Bari, Italy Background: Progressive supranuclear palsy (PSP is a neurodegenerative extrapyramidal syndrome. Studies have demonstrated that PSP can present clinically as an atypical dementing syndrome dominated by a progressive apraxia of speech (AOS and aphasia. Aim: We aimed to investigate the clinical presentation of PSP, using a comprehensive multidimensional evaluation, and the disease response to various pharmacological treatments. Methods: A 72-year-old right-handed male, with 17 years education, who first presented with aphasia, AOS, depression, apathy, and postural instability at 69 years; a complete neuropsychological evaluation, tapping the different cognitive domains, was performed. Results: Testing revealed a moderate global cognitive deficit (Mini-Mental State Examination test score =20, low memory test scores (story recall, Rey’s 15-word Immediate and Delayed Recall, and poor phonemic and semantic fluency. The patient’s language was characterized by AOS, with slow speech rate, prolonged intervals between syllables and words, decreased articulatory accuracy, sound distortions, and anomia. Behavioral changes, such as depression, anxiety, apathy, and irritability, were reported. The neurological examination revealed supranuclear vertical gaze palsy, poor face miming, and a mild balance deficit. Magnetic resonance imaging showed only widespread cortical atrophy. Single photon emission computed tomography demonstrated left > right frontotemporal cortical abnormalities. After 6 months, a further neuropsychological assessment showed a progression in cognitive deficits, with additional attention deficits. The patient reported frequent falls, but the neurological deficits remained unchanged. Neuroimaging tests showed the same brain involvement. Conclusion: Our case highlights the heterogeneity of the clinical features in

  17. Hematological Side Effects of Atypical Antipsychotic Drugs

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    Serap Erdogan

    2009-10-01

    Full Text Available Atypical antipsychotics cause less frequently extrapyramidal system symptoms, neuroleptic malignant syndrome and hyperprolactinemia than typical antipsychotics. However hematological side effects such as leukopenia and neutropenia could occur during treatment with atypical antipsychotics. These side effects could lead to life threatening situations and the mortality rate due to drug related agranulocytosis is about 5-10%. There are several hypothesis describing the mechanisms underlying drug induced leukopenia and/or neutropenia such as direct toxic effects of these drugs upon the bone marrow or myeloid precursors, immunologic destruction of the granulocytes or supression of the granulopoiesis. Clozapine is the antipsychotic agent which has been most commonly associated with agranulocytosis. A nitrenium ion which is formed by the bioactivation of clozapine is thought to have an important role in the pathophysiogy of this adverse effect. Aside from clozapine, there are several case reports reporting an association between olanzapine, quetiapine, risperidone, ziprasidone, aripiprazole and leukopenia. We did not find any study or case report presenting amisulpride or sulpride related hematological side effects in our literature search. Patients who had hematological side effects during their previous antipsychotic drug treatments and who had lower baseline blood leukocyte counts, have higher risk to develop leukopenia or neutropenia during their current antipsychotic treatment. Once leukopenia and neutropenia develops, drugs thought to be responsible for this side effect should be discontinued or dosages should be lowered. In some cases iniatition of lithium or G-CSF (granulocyte colony-stimulating factor therapy may be helpful in normalizing blood cell counts. Clinicans should avoid any combination of drugs known to cause hematological side effects. Besides during antipsychotic treatment, infection symptoms such as fever, cough, sore throat or

  18. Pharmacotherapy for mild hypertension

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    Diana Diao

    Full Text Available BACKGROUND: People with no previous cardiovascular events or cardiovascular disease represent a primary prevention population. The benefits and harms of treating mild hypertension in primary prevention patients are not known at present. This review examines the existing randomized controlled trial (RCT evidence. OBJECTIVE: Primary objective: To quantify the effects of antihypertensive drug therapy on mortality and morbidity in adults with mild hypertension (systolic blood pressure (BP 140-159 mmHg and/or diastolic BP 90-99 mmHg and without cardiovascular disease. METHODS: Search: We searched CENTRAL (2011, Issue 1, MEDLINE (1948 to May 2011, EMBASE (1980 to May 2011 and reference lists of articles. The Cochrane Database of Systematic Reviews and the Database of Abstracts of Reviews of Effectiveness (DARE were searched for previous reviews and meta-analyses of anti-hypertensive drug treatment compared to placebo or no treatment trials up until the end of 2011. Selection criteria: RCTs of at least 1 year duration. Data collection and analysis: The outcomes assessed were mortality, stroke, coronary heart disease (CHD, total cardiovascular events (CVS, and withdrawals due to adverse effects. MAIN RESULTS: Of 11 RCTs identified 4 were included in this review, with 8,912 participants. Treatment for 4 to 5 years with antihypertensive drugs as compared to placebo did not reduce total mortality (RR 0.85, 95% CI 0.63, 1.15. In 7,080 participants treatment with antihypertensive drugs as compared to placebo did not reduce coronary heart disease (RR 1.12, 95% CI 0.80, 1.57, stroke (RR 0.51, 95% CI 0.24, 1.08, or total cardiovascular events (RR 0.97, 95% CI 0.72, 1.32. Withdrawals due to adverse effects were increased by drug therapy (RR 4.80, 95% CI 4.14, 5.57, ARR 9%. AUTHORS' CONCLUSIONS: Antihypertensive drugs used in the treatment of adults (primary prevention with mild hypertension (systolic BP 140-159 mmHg and/or diastolic BP 90-99 mmHg have not been

  19. Atypical antipsychotics in bipolar disorder: systematic review of randomised trials

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    Moore R Andrew

    2007-08-01

    Full Text Available Abstract Background Atypical antipsychotics are increasingly used for treatment of mental illnesses like schizophrenia and bipolar disorder, and considered to have fewer extrapyramidal effects than older antipsychotics. Methods We examined efficacy in randomised trials of bipolar disorder where the presenting episode was either depression, or manic/mixed, comparing atypical antipsychotic with placebo or active comparator, examined withdrawals for any cause, or due to lack of efficacy or adverse events, and combined all phases for adverse event analysis. Studies were found through systematic search (PubMed, EMBASE, Cochrane Library, and data combined for analysis where there was clinical homogeneity, with especial reference to trial duration. Results In five trials (2,206 patients participants presented with a depressive episode, and in 25 trials (6,174 patients the presenting episode was manic or mixed. In 8-week studies presenting with depression, quetiapine and olanzapine produced significantly better rates of response and symptomatic remission than placebo, with NNTs of 5–6, but more adverse event withdrawals (NNH 12. With mania or mixed presentation atypical antipsychotics produced significantly better rates of response and symptomatic remission than placebo, with NNTs of about 5 up to six weeks, and 4 at 6–12 weeks, but more adverse event withdrawals (NNH of about 22 in studies of 6–12 weeks. In comparisons with established treatments, atypical antipsychotics had similar efficacy, but significantly fewer adverse event withdrawals (NNT to prevent one withdrawal about 10. In maintenance trials atypical antipsychotics had significantly fewer relapses to depression or mania than placebo or active comparator. In placebo-controlled trials, atypical antipsychotics were associated with higher rates of weight gain of ≥7% (mainly olanzapine trials, somnolence, and extrapyramidal symptoms. In active controlled trials, atypical antipsychotics

  20. Guiding atypical facial growth back to normal. Part 1: Understanding facial growth.

    Science.gov (United States)

    Galella, Steve; Chow, Daniel; Jones, Earl; Enlow, Donald; Masters, Ari

    2011-01-01

    Many practitioners find the complexity of facial growth overwhelming and thus merely observe and accept the clinical features of atypical growth and do not comprehend the long-term consequences. Facial growth and development is a strictly controlled biological process. Normal growth involves ongoing bone remodeling and positional displacement. Atypical growth begins when this biological balance is disturbed With the understanding of these processes, clinicians can adequately assess patients and determine the causes of these atypical facial growth patterns and design effective treatment plans. This is the first of a series of articles which addresses normal facial growth, atypical facial growth, patient assessment, causes of atypical facial growth, and guiding facial growth back to normal.

  1. Neither moderate hypoxia nor mild hypoglycaemia alone causes any significant increase in cerebral [Ca2+]i: only a combination of the two insults has this effect. A 31P and 19F NMR study.

    Science.gov (United States)

    Badar-Goffer, R S; Thatcher, N M; Morris, P G; Bachelard, H S

    1993-12-01

    (1) The energy state and free intracellular calcium concentration ([Ca2+]i) of superfused cortical slices were measured in moderate hypoxia (approximately 65 microM O2), in mild hypoglycaemia (0.5 mM glucose), and in combinations of the two insults using 19F and 31P NMR spectroscopy. (2) Neither hypoxia nor hypoglycaemia alone caused any significant change in [Ca2+]i. Hypoxia caused a 40% fall in phosphocreatine (PCr) content but not in ATP level, and hypoglycaemia produced a slight fall in both (as expected from previous studies). These changes in the energy state recovered on return to control conditions. (3) A combined sequential insult (hypoxia, followed by hypoxia plus hypoglycaemia) produced a 100% increase in [Ca2+]i and a decrease in PCr level to approximately 25% of control. The reverse combined sequential insult (hypoglycaemia, followed by hypoglycaemia plus hypoxia) had the same effect. On return to control conditions there was some decrease in [Ca2+]i and a small increase in PCr content, but neither recovered to control levels. (4) Exposure of the tissue to the combined simultaneous insult (hypoxia plus hypoglycaemia) immediately after the control spectra had been recorded resulted in a fivefold increase in [Ca2+]i and a similar decrease in PCr level to 20-25% of control. There was little if any change of [Ca2+]i or PCr level on return to control conditions. (5) These results are discussed in terms of metabolic adaptation of some but not all of the cortical cells to the single type of insult, which renders the tissues less vulnerable to the combined insult.

  2. Rare Posterior Pharyngeal Mass: Atypical Marginal Zone Hyperplasia.

    Science.gov (United States)

    Eliçora, Sultan Şevik; Güven, Mehmet; Varli, Ali F; Yilmaz, Mahmut S; Alponat, Selin

    2016-03-01

    Cases of posterior pharyngeal masses are quite rare, and are typically derived from schwannoma or encephalocele, or are of vascular or infectious origin. They are clinically significant due to their tendency to cause airway obstruction. The aim of this study was to present a rare atypical marginal hyperplasia case of a posterior pharyngeal wall mass. A 10-year-old male was admitted to our clinic with dyspnea. A plane-surfaced 4 × 3 × 3 cm mass was observed on the posterior pharyngeal wall upon physical examination. The patient underwent magnetic resonance imaging and surgical treatment. Following excision of material from the patient's mass, a pathologic diagnosis of atypical marginal zone hyperplasia was made. Atypical marginal zone hyperplasia of the posterior pharyngeal wall has not yet been reported in the literature. Marginal zone hyperplasia associated with a lymphoproliferative disease should be considered when making differential diagnoses of posterior pharyngeal wall masses.

  3. Atypical femur fractures associated with bisphosphonates: from prodrome to resolution

    Directory of Open Access Journals (Sweden)

    Braulio Sastre-Jala

    2015-10-01

    Full Text Available Atypical fractures related to the prolonged use of bisphosphonates are caused by low energy mechanisms and are characterized by oblique and transverse lines and frequent bilateralism. We present a clinical case of a patient who we believe illustrates, both in clinical and radiological aspects, the new definition of atypical femur fracture related to treatment using bisphosphonates treated conservatively and successfully with discharge and teriparatide 20 mcg/80 mcl s.c./24h. The appearance of painful symptoms in the upper thigh, especially if bilateral, in patients treated with bisphosphonates for long periods of time, makes it necessary to dismiss bone lesions that might otherwise suggest atypical fracture. In those cases where the fracture is incomplete, restoring bone metabolism through the administration of teriparatide 20 mcg/80 mcl s.c./24h could prevent displaced fractures.

  4. Atypical moles: diagnosis and management.

    Science.gov (United States)

    Perkins, Allen; Duffy, R Lamar

    2015-06-01

    Atypical moles are benign pigmented lesions. Although they are benign, they exhibit some of the clinical and histologic features of malignant melanoma. They are more common in fair-skinned individuals and in those with high sun exposure. Atypical moles are characterized by size of 6 mm or more at the greatest dimension, color variegation, border irregularity, and pebbled texture. They are associated with an increased risk of melanoma, warranting enhanced surveillance, especially in patients with more than 50 moles and a family history of melanoma. Because an individual lesion is unlikely to display malignant transformation, biopsy of all atypical moles is neither clinically beneficial nor cost-effective. The ABCDE (asymmetry, border irregularity, color unevenness, diameter of 6 mm or more, evolution) mnemonic is a valuable tool for clinicians and patients to identify lesions that could be melanoma. Also, according to the "ugly duckling" concept, benign moles tend to have a similar appearance, whereas an outlier with a different appearance is more likely to be undergoing malignant change. Atypical moles with changes suggestive of malignant melanoma should be biopsied, using an excisional method, if possible.

  5. An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

    Science.gov (United States)

    Ferrero, Giovanni Battista; Howald, Cédric; Micale, Lucia; Biamino, Elisa; Augello, Bartolomeo; Fusco, Carmela; Turturo, Maria Giuseppina; Forzano, Serena; Reymond, Alexandre; Merla, Giuseppe

    2010-01-01

    Williams–Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. These insights for genotype–phenotype correlations came from the molecular and clinical analysis of patients with atypical deletions and mice models. Here we report a patient showing mild WBS physical phenotype and normal IQ, who carries a shorter 1 Mb atypical deletion. This rearrangement does not include the GTF2IRD1 and GTF2I genes and only partially the BAZ1B gene. Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients. PMID:19568270

  6. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

    Science.gov (United States)

    Ferrero, Giovanni Battista; Howald, Cédric; Micale, Lucia; Biamino, Elisa; Augello, Bartolomeo; Fusco, Carmela; Turturo, Maria Giuseppina; Forzano, Serena; Reymond, Alexandre; Merla, Giuseppe

    2010-01-01

    Williams-Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. These insights for genotype-phenotype correlations came from the molecular and clinical analysis of patients with atypical deletions and mice models. Here we report a patient showing mild WBS physical phenotype and normal IQ, who carries a shorter 1 Mb atypical deletion. This rearrangement does not include the GTF2IRD1 and GTF2I genes and only partially the BAZ1B gene. Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients.

  7. Clinical grand rounds: atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Hodgkins, Kavita S; Bobrowski, Amy E; Lane, Jerome C; Langman, Craig B

    2012-01-01

    Atypical hemolytic uremic syndrome (aHUS) is a rare, lifethreatening, chronic, genetic disease of uncontrolled alternative pathway complement activation. The understanding of the pathophysiology and genetics of this disease has expanded over recent decades and promising new developments in the management of aHUS have emerged. Regardless of the cause of aHUS, with or without a demonstrated mutation or autoantibody, blockade of terminal complement activation through C5 is of high interest as a mechanism to ameliorate the disease. Eculizumab, an existing monoclonal antibody directed against C5 with high affinity, prevents the perpetuation of the downstream activation of the complement cascade and the damage caused by generation of the anaphylotoxin C5a and the membrane attack complex C5b-9, by blocking C5 cleavage. We report the successful use of eculizumab in a patient after kidney transplantation and discuss the disease aHUS.

  8. DENGUE WITH ATYPICAL MANIFESTATIONS AND WHO CLASSIFICATION

    Directory of Open Access Journals (Sweden)

    Jayant Mahadeorao

    2015-09-01

    Full Text Available Dengue fever and dengue haemorrhagic fever are important arboviral diseases. Dengue virus belongs to family Flaviviridae , has four serotypes that spread by the bite of infected Aedes mosquitoes . Dengue epidemics can have a significant economic and health t oll. Worldwide, an estimated 3.6 billion people are at risk of infection with about 50 - 100 million new cases each year Illness produced by any of the four dengue virus serotypes varies from mild asymptomatic illness to severe fatal dengue haemorrhagic fe ver/dengue shock syndrome (DHF/DSS. During the early febrile stage clinicians cannot predict which patients will progress to severe disease. Atypical manifestations were reported are associated with high risk of mortality. The existing WHO dengue classific ation scheme and case definitions have some drawbacks. A global strategy to reduce the disease burden using integrated vector management in conjunction with early and accurate diagnosis has been advocated. Antiviral drugs and vaccines that are currently un der development could also make an important contribution to dengue control in the future

  9. Mild cognitive impairment

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2009-01-01

    Full Text Available Mild cognitive impairment (MCI is a syndrome that spans the area between normal ageing and dementia. It is classified into amnestic and non-amnestic types, both with two subtypes: single domain and multiple domains. Prevalence of MCI depends on criteria and population and can vary from 0.1 to 42% persons of older age. In contrast to dementia, cognitive deterioration is less severe and activities of daily living are preserved. Most impaired higher cognitive functions in MCI are memory, executive functions, language, visuospatial functions, attention etc. Also there are depression, apathy or psychomotor agitation, and signs of psychosis. Aetiology of MCI is multiple, mostly neurodegenerative, vascular, psychiatric, internistic, neurological, traumatic and iatrogenic. Persons with amnestic MCI are at a higher risk of converting to Alzheimer's disease, while those with a single non-memory domain are at risk of developing frontotemporal dementia. Some MCI patients also progress to other dementia types, vascular among others. In contrast, some patients have a stationary course, some improve, while others even normalize. Every suspicion of MCI warrants a detailed clinical exploration to discover underlying aetiology, laboratory analyses, neuroimaging methods and some cases require a detailed neuropsychological assessment. At the present time there is no efficacious therapy for cognitive decline in MCI or the one that could postpone conversion to dementia. The treatment of curable causes, application of preventive measures and risk factor control are reasonable measures in the absence of specific therapy.

  10. [Mild brain injuries in emergency medicine].

    Science.gov (United States)

    Liimatainen, Suvi; Niskakangas, Tero; Ohman, Juha

    2011-01-01

    Diagnostics and correct classification of mild brain injuries is challenging. Problems caused by insufficient documentation at the acute phase become more obvious in situations in which legal insurance issues are to be considered. A small proportion of patients with mild brain injury suffer from prolonged symptoms. Medical recording and classification of the brain injury at the initial phase should therefore be carried out in a structured manner. The review deals with the diagnostic problems of mild brain injuries and presents a treatment protocol for adult patients at the acute phase, aiming at avoiding prolonged problems.

  11. Atypical Steatocystoma Multiplex with Calcification

    Science.gov (United States)

    Rahman, Muhammad Hasibur; Islam, Muhammad Saiful; Ansari, Nazma Parvin

    2011-01-01

    A 60-year-old male reported to us with an atypical case of giant steatocystoma multiplex in the scrotum with calcification. There was no family history of similar lesions. Yellowish, creamy material was expressed from a nodule during punch biopsy. The diagnosis was based on clinical as well as histological findings. Successful surgical excision was done to cure the case without any complications. PMID:22363850

  12. Mild Traumatic Brain Injury

    Science.gov (United States)

    ... Videos mild Traumatic Brain Injury 94447 reads Please Log in You must be logged in to access ... Brain Injury (DCoE) to promote the processes of building resilience, facilitating recovery and supporting reintegration of returning ...

  13. Occurrence and significance of atypical Aeromonas salmonicida in non-salmonid and salmonid fish species : A review

    DEFF Research Database (Denmark)

    Wiklund, T.; Dalsgaard, Inger

    1998-01-01

    information is available about the ecology, spread and survival of atypical strains in water. The commonly used therapeutic methods for the control of diseases in farmed fish caused by atypical A. salmonicida are generally effective against the atypical strains. Resistance to different antibiotics......, non-salmonids as well as salmonids, inhabiting fresh water, brackish water and marine environments in northern and central Europe, South Africa, North America, Japan and Australia. In non-salmonid fish species, infections with atypical strains often manifest themselves as superficial skin ulcerations....... The best known diseases associated with atypical A. salmonicida are carp Cyprinus carpio erythrodermatitis, goldfish Carassius auratus ulcer disease, and ulcer disease of flounder Platichthys flesus, but atypical strains are apparently involved in more disease outbreaks than previously suspected...

  14. Atypical pathogens in community acquired pneumonia of Egyptian children

    Institute of Scientific and Technical Information of China (English)

    Deraz TE; El Sahriggy SA; Shaheen MA; Motawea AA; Gomaa HE; Fawzy SH; Mohamed AA

    2009-01-01

    Objective:Diagnosis of atypical pathogens as an aetiology for community-acquired pneumonia (CAP)in chil-dren is a challenge world wide.The aim of this study was to detect the frequency of atypical pathogens as a cause of community-acquired pneumonia (CAP)in Egyptian children.Methods:From 50 children (with age ranged from 2 months to 1 2 years)hospitalized for community-acquired pneumonia;respiratory sputum samples were collected by induction or spontaneously.All samples were subjected to conventional cultures and Polymer-ase Chain Reaction(PCR)technique DNA extraction for identification of Mycoplasma,Chlamydia pneumoniae and Legionella pneumophila.Results:A definite pathogen was identified in 78% of the studied children;30%typical bacteria,8% candida albicans and atypical bacteria in 40% of the pneumonic children.Chlamydia pneumoniae was isolated from 26% of the children while Mycoplasma pneumoniae was isolated from 1 4%, whereas Legionella pneumophilla was not isolated at all.Conclusion:Atypical pathogens are evident as a po-tential aetiology for community-acquired pneumonia in (1 3.3%)of young and (80%)of older Egyptian chil-dren.

  15. Monocular nasal hemianopia from atypical sphenoid wing meningioma.

    Science.gov (United States)

    Stacy, Rebecca C; Jakobiec, Frederick A; Lessell, Simmons; Cestari, Dean M

    2010-06-01

    Neurogenic monocular nasal field defects respecting the vertical midline are quite uncommon. We report a case of a unilateral nasal hemianopia that was caused by compression of the left optic nerve by a sphenoid wing meningioma. Histological examination revealed that the pathology of the meningioma was consistent with that of an atypical meningioma, which carries a guarded prognosis with increased chance of recurrence. The tumor was debulked surgically, and the patient's visual field defect improved.

  16. Atypical femoral fractures bilaterally in a patient receiving bisphosphonate: a case report

    Science.gov (United States)

    Moghnie, Alessandro; Scamacca, Veronica; De Fabrizio, Giovanni; Valentini, Roberto

    2016-01-01

    Summary Atypical femoral fractures are often associated with prolonged bisphosphonate use. The American Society for Bone and Mineral Research (ASBMR) has set the diagnosis criteria for atypical subtrochanteric and diaphyseal femoral fractures by classifying them according to their major and minor criteria. Prolonged bisphosphonate use is correlated with AFF, but the pathogenetic mechanism that causes this kind of fracture has not been defined yet. We describe simultaneous bilaterally femoral fractures in a 76-year-old woman. PMID:27252749

  17. Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis

    OpenAIRE

    2015-01-01

    The authors describe the case of a 51-year-old woman with an osteonecrosis of her right femoral head after treatment of an atypical subtrochanteric fracture caused by pycnodysostosis. She had this fracture after a low-trauma fall. She was of short stature with typical facial features, short stubby hands, and radiological features including open cranial sutures, obtuse mandible, and generalized skeletal sclerosis. The majority of cases of atypical subtrochanteric fractures are associated wi...

  18. Use of rapid auxanographic procedures for recognition of an atypical Candida.

    OpenAIRE

    Baker, J. G.; Salkin, I F; Pincus, D. H.; D'Amato, R F

    1981-01-01

    An atypical Candida which can cause diagnostic problems in clinical laboratories has recently been characterized. Assimilation patterns of 29 clinical isolates of an atypical Candida were obtained by the API 30C (Analytab Products, Plainview, N.Y.)., Uni-Yeast-Tek (Flow Laboratories, Inc., Rockville, Md.), and dye pour-plate auxanographic methods. The low frequency of assimilation of cellobiose, sucrose, and melezitose noted in all of these procedures permitted the early recognition of the at...

  19. Atypical Manifestation of Vestibular Schwannoma

    Directory of Open Access Journals (Sweden)

    Webster, Guilherme

    2013-09-01

    Full Text Available Introduction: Vestibular schwannoma (also known as acoustic neuroma is a benign tumor whose cells are derived from Schwann sheaths, which commonly occurs from the vestibular portion of the eighth cranial nerve. Furthermore, vestibular schwannomas account for ∼8% of intracranial tumors in adults and 80 to 90% of tumors of the cerebellopontine angle. Its symptoms are varied, but what stands out most is a unilateral sensorineural hearing loss, with a low index of speech recognition. Objective: Describe an atypical manifestation of vestibular schwannoma. Case Report: The 46-year-old woman had vertigo and binaural hearing loss and fullness, with ear, nose, and throat examination suggestive of cochlear injury. After 6 months, the patient developed worsening of symptoms and onset of right unilateral tinnitus. In further exams the signs of cochlear damage remained, except for the vestibular test (hyporeflexia. Magnetic resonance imaging showed an expansive lesion in the right cerebellopontine angle. Discussion: This report warns about the atypical manifestations of vestibular schwannoma, which must always be remembered in investigating and diagnosing hearing loss.

  20. Mild Cognitive Impairment (MCI)

    Science.gov (United States)

    ... stage between the expected cognitive decline of normal aging and the more-serious decline of dementia. It can involve problems with memory, language, thinking and judgment that are greater than normal age-related changes. If you have mild cognitive impairment, you may ...

  1. Mild induced hypothermia

    DEFF Research Database (Denmark)

    Johansen, Maria E; Jensen, Jens-Ulrik; Bestle, Morten H

    2014-01-01

    INTRODUCTION: Coagulopathy associates with poor outcome in sepsis. Mild induced hypothermia has been proposed as treatment in sepsis but it is not known whether this intervention worsens functional coagulopathy. MATERIALS AND METHODS: Interim analysis data from an ongoing randomized controlled tr...

  2. Occurrence and significance of atypical Aeromonas salmonicida in non-salmonid and salmonid fish species: a review.

    Science.gov (United States)

    Wiklund, T; Dalsgaard, I

    1998-02-26

    Bacterial strains of Aeromonas salmonicida included in the recognized subsp. acromogenes, subsp. masoucida, and subsp. smithia in addition to the large number of strains not included in any of the described subspecies are referred to as atypical A. salmonicida. The atypical strains form a very heterogeneous group with respect to biochemical characteristics, growth conditions, and production of extracellular proteasess. Consequently, the present taxonomy of the species A. salmonicida is rather ambiguous. Atypical A. salmonicida has been isolated from a wide range of cultivated and wild fish species, non-salmonids as well as salmonids, inhabiting fresh water, brackish water and marine environments in northern and central Europe, South Africa, North America, Japan and Australia. In non-salmonid fish species, infections with atypical strains often manifest themselves as superficial skin ulcerations. The best known diseases associated with atypical A. salmonicida are carp Cyprinus carpio erythrodermatitis, goldfish Carassius auratus ulcer disease, and ulcer disease of flounder Platichthys flesus, but atypical strains are apparently involved in more disease outbreaks than previously suspected. Macroscopical and microscopical studies of ulcerated fish indicate internal organs are infrequently invaded by atypical A. salmonicida. This view is supported by the fact that atypical strains are irregularly isolated from visceral organs of ulcerated fish. High mortality caused by atypical A. salmonicida has been observed in populations of wild non-salmonids and farmed salmonids, although the association between the mortality in the wild fish stocks and atypical A. salmonicida has not always been properly assessed. In injection experiments the pathogenicity of the atypical strains examined showed large variation. An extacellular A-layer has been detected in different atypical strains, but virulence mechanisms different from those described for (typical) A. salmonicida subsp

  3. Atypical scrapie isolates involve a uniform prion species with a complex molecular signature.

    Directory of Open Access Journals (Sweden)

    Dorothea R Götte

    Full Text Available The pathobiology of atypical scrapie, a prion disease affecting sheep and goats, is still poorly understood. In a previous study, we demonstrated that atypical scrapie affecting small ruminants in Switzerland differs in the neuroanatomical distribution of the pathological prion protein (PrP(d. To investigate whether these differences depend on host-related vs. pathogen-related factors, we transmitted atypical scrapie to transgenic mice over-expressing the ovine prion protein (tg338. The clinical, neuropathological, and molecular phenotype of tg338 mice is similar between mice carrying the Swiss atypical scrapie isolates and the Nor98, an atypical scrapie isolate from Norway. Together with published data, our results suggest that atypical scrapie is caused by a uniform type of prion, and that the observed phenotypic differences in small ruminants are likely host-dependant. Strikingly, by using a refined SDS-PAGE technique, we established that the prominent proteinase K-resistant prion protein fragment in atypical scrapie consists of two separate, unglycosylated peptides with molecular masses of roughly 5 and 8 kDa. These findings show similarities to those for other prion diseases in animals and humans, and lay the groundwork for future comparative research.

  4. Atypical scrapie isolates involve a uniform prion species with a complex molecular signature.

    Science.gov (United States)

    Götte, Dorothea R; Benestad, Sylvie L; Laude, Hubert; Zurbriggen, Andreas; Oevermann, Anna; Seuberlich, Torsten

    2011-01-01

    The pathobiology of atypical scrapie, a prion disease affecting sheep and goats, is still poorly understood. In a previous study, we demonstrated that atypical scrapie affecting small ruminants in Switzerland differs in the neuroanatomical distribution of the pathological prion protein (PrP(d)). To investigate whether these differences depend on host-related vs. pathogen-related factors, we transmitted atypical scrapie to transgenic mice over-expressing the ovine prion protein (tg338). The clinical, neuropathological, and molecular phenotype of tg338 mice is similar between mice carrying the Swiss atypical scrapie isolates and the Nor98, an atypical scrapie isolate from Norway. Together with published data, our results suggest that atypical scrapie is caused by a uniform type of prion, and that the observed phenotypic differences in small ruminants are likely host-dependant. Strikingly, by using a refined SDS-PAGE technique, we established that the prominent proteinase K-resistant prion protein fragment in atypical scrapie consists of two separate, unglycosylated peptides with molecular masses of roughly 5 and 8 kDa. These findings show similarities to those for other prion diseases in animals and humans, and lay the groundwork for future comparative research.

  5. Atypical Presentation of Atypical Teratoid Rhabdoid Tumor in a Child

    Directory of Open Access Journals (Sweden)

    Y. T. Udaka

    2013-01-01

    Full Text Available Atypical Teratoid Rhabdoid Tumor (ATRT is a rare malignant intracranial neoplasm more commonly diagnosed in young children. The authors report the case of an 11-year-old boy with a long standing history of slowly progressive weight loss, fatigue, and weakness over 1.5 years whose magnetic resonance imaging revealed a large heterogeneous enhancing dorsally exophytic lower brainstem mass. Examination revealed extreme cachexia, gaze-evoked nystagmus, dysphagia, dysarthria, bilateral dysmetria, and global weakness without ambulation. The protracted history and neuroimaging features were most suggestive of a low grade glioma. However, pathology revealed a hypercellular tumor with large hyperchromatic nucleoli and loss of INI-1 staining on immunohistochemistry consistent with a diagnosis of an ATRT. The child died shortly after surgery due to complications from his brainstem infiltrative disease. This case illustrates the diverse presentation of ATRT in childhood that can clinically and radiographically mimic that of low grade glioma.

  6. THE EXPRESSION OF APOPTOSIS RELATED GENES IN THE PROCESS OF CANCERATION OF ATYPICAL HYPERPLASIA OF MAMMARY DUCT

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Objective: To investigate the expression of apoptosis related genes p53 and bcl-2 in atypical hyperplasia of mammary duct and the relationship between the gene expression and oncogenesis of breast. Methods: mRNA of apoptosis related gene p53 and bcl-2 were detected by in situ hybridization in 44 cases of atypical ductal hyperplasia. p53 protein expression was detected by immunohistochemistry. The data were compared with those of 6 cases of benign hyperplasia and 26 cases of breast carcinoma. Results: The expression of p53 mRNA was 66.7% in benign hyperplasia, 40% in atypical ductal hyperplasia (55.6% in mild, 41.7% in medium, 26.1% in severe) and 19.2% in carcinoma (of which 21.4% were intraductal carcinoma and 16.7% were invasive). The expression of p53 protein was negative in benign hyperplasia, 24% in atypical hyperplasia (mild 11.1%, medium 25%, severe 34.8%), 38.5% in carcinoma (intraductal carcinoma 35.7%, invasive ductal carcinoma 41.7%). The expression of bcl-2 was negative in benign hyperplasia, 78.6% in intraductal carcinoma, 83.3% in invasive ductal carcinoma. Conclusion: Loss and mutation of p53 gene and excessive expression bcl-2 mRNA were detected in severe atypical ductal hyperplasia.

  7. Role of Atypical Bacteria in Hospitalized Patients With Nursing Home-Acquired Pneumonia.

    Science.gov (United States)

    Meyer-Junco, Laura

    2016-10-01

    Background: Nursing home-acquired pneumonia (NHAP) has been identified as one of the leading causes of mortality and hospitalization for long-term care residents. However, current and previous pneumonia guidelines differ on the appropriate management of NHAP in hospitalized patients, specifically in regard to the role of atypical bacteria such as Chlamydiae pneumonia, Mycoplasma pneumoniae, and Legionella. Objectives: The purpose of this review is to evaluate clinical trials conducted in hospitalized patients with NHAP to determine the prevalence of atypical bacteria and thus the role for empiric antibiotic coverage of these pathogens in NHAP. Methods: Comprehensive MEDLINE (1966-April 2016) and Embase (1980-April 2016) searches were performed using the terms "atypical bacteria", "atypical pneumonia", "nursing-home acquired pneumonia", "pneumonia", "elderly", "nursing homes", and "long term care". Additional articles were retrieved from the review of references cited in the collected studies. Thirteen published clinical trials were identified. Results: In the majority of studies, atypical bacteria were infrequently identified in patients hospitalized with NHAP. However, when an active community-acquired pneumonia (CAP) cohort was available, the rate of atypical bacteria between NHAP and CAP study arms was similar. Only 3 studies in this review adhered to recommended strategies for investigating atypical bacteria; in 2 of these studies, C. pneumoniae was the most common pathogen identified in NHAP cohorts. Conclusion: Although atypical bacteria were uncommon in most NHAP studies in this review, suboptimal microbial investigations were commonly performed. To accurately describe the role of atypical bacteria in NHAP, more studies using validated diagnostic tests are needed.

  8. Prevention and treatment of atypical haemolytic uremic syndrome after kidney transplantation.

    Science.gov (United States)

    Okumi, Masayoshi; Tanabe, Kazunari

    2016-07-01

    Atypical haemolytic uraemic syndrome is a rare disorder characterized by an over-activated, dysregulated alternative complement pathway due to genetic mutation and environmental triggers. Atypical haemolytic uraemic syndrome is a serious, life-threatening disease characterized by thrombotic microangiopathy, which causes haemolytic anaemia, thrombocytopaenia, and acute renal failure. Since recurrences of atypical haemolytic uraemic syndrome frequently lead to end-stage kidney disease even in renal allografts, kidney transplantation for patients with end-stage kidney disease secondary to atypical haemolytic uraemic syndrome has long been contraindicated. However, over the past several years, advancements in the management of atypical haemolytic uraemic syndrome have allowed successful kidney transplantation in these patients. The key factor of this success is eculizumab, a humanized anti-C5 monoclonal antibody, which inhibits terminal membrane-attack complex formation and thrombotic microangiopathy progression. In the setting of kidney transplantation, there are different possible triggers of post-transplant atypical haemolytic uraemic syndrome recurrence, such as brain-death related injury, ischaemia-reperfusion injury, infections, the use of immunosuppressive drugs, and rejection. Principal strategies are to prevent endothelial damage that could potentially activate alternative complement pathway activation and subsequently lead to atypical haemolytic uraemic syndrome recurrence in kidney allograft. Published data shows that prophylactic eculizumab therapy is highly effective for the prevention of post-transplant atypical haemolytic uraemic syndrome recurrence, and prompt treatment with eculizumab as soon as recurrence is diagnosed is important to maintain renal allograft function. Further study to determine the optimal dosing and duration of prophylactic therapy and treatment of post-transplant atypical haemolytic uraemic syndrome recurrence is needed.

  9. Atypical focal nodular hyperplasia of the liver

    Institute of Scientific and Technical Information of China (English)

    Muhammad Rizwan Khan; Taimur Saleem; Tanveer Ul Haq; Kanwal Aftab

    2011-01-01

    BACKGROUND: Focal nodular hyperplasia, a benign hepatic tumor, is usually asymptomatic. However, rarely the entity can cause symptoms, mandating intervention. METHOD: We present a case of focal nodular hyperplasia of the liver, which caused a considerable diagnostic dilemma due to its atypical presentation. RESULTS: A 29-year-old woman presented with a 15-year history of a progressively increasing mass in the right upper quadrant which was associated with pain and emesis. Examination showed a firm, mobile mass palpable below the right subcostal margin. A computed tomography scan of the abdomen showed an exophytic mass arising from hepatic segments III and IVb. Trucut biopsy of the hepatic mass was equivocal. Angiography showed a vascular tumor that was supplied by a tortuous branch of the proper hepatic artery. Surgical intervention for removal of the mass was undertaken. Intra-operatively, two large discrete tumors were found and completely resected. Histopathological examination showed features consistent with focal nodular hyperplasia. CONCLUSION: This description of an unusual case of focal nodular hyperplasia of the liver highlights the point that the diagnosis of otherwise benign hepatic tumors may be difficult despite extensive work-up in some cases.

  10. Atypical presentations of celiac disease

    Directory of Open Access Journals (Sweden)

    Balasa Adriana Luminita

    2016-08-01

    Full Text Available In this study we evaluated the association of celiac disease in 81 children with autoimmune disease and genetic syndromes over a two years periods (January 2014 to July 2016 in Pediatric Clinic in Constanta. Because the extraintestinal symptoms are an atypical presentation of celiac disease we determined in these children the presence of celiac disease antibodies: Anti-tissue Transglutaminase Antibody IgA and IgA total serum level as a screening method followeds in selective cases by Anti-tissue Transglutaminase Antibody IgG, anti-endomysial antibodies, deamidated gliadin antibodies IgA and IgG and intestinal biopsia. In our study 8 patients had been diagnosed with celiac disease with extraintestinal symptoms, of which 4 with type 1 diabetes, 1 patient with ataxia, 2 patients with dermatitis herpetiformis and 1 patient with Down syndrome that associate also autoimmune thyroiditis, alopecia areata, enamel hypoplasia.

  11. [Treatment of tics in Tourette syndrome with atypical antipsychotic drugs].

    Science.gov (United States)

    Sindø, Ingrid; Jørgensen, Jan Ib

    2002-08-05

    We reviewed articles in English dealing with research into the effect of atypical antipsychotic drugs on tic reduction in Tourette's syndrome. In Denmark, there are four registered atypical antipsychotic drugs; clozapine, sulpiride, olanzapine, and risperidone. The topic of interest is the effectiveness and side effects of these drugs as compared to the conventional antipsychotic, pimozide, which is today the preferred pharmacological treatment of Tourette's syndrome among the antipsychotics. The conclusion is that risperidone would be a good first-line antipsychotic drug for the treatment of Tourette's syndrome. It is as effective as pimozide, its side effect profile is overall much more favourable, and unlike pimozide it does not contain the risk of causing heart arrhythmia.

  12. Identification of the first case of atypical scrapie in Japan

    Science.gov (United States)

    IMAMURA, Morikazu; MIYAZAWA, Kohtaro; IWAMARU, Yoshifumi; MATSUURA, Yuichi; YOKOYAMA, Takashi; OKADA, Hiroyuki

    2016-01-01

    A Corriedale ewe was confirmed as the first atypical scrapie case during an active surveillance program for transmissible spongiform encephalopathies in small ruminants in Japan. The animal was homozygous for the AF141RQ haplotype of PRNP. The animal showed clinical neurological signs possibly due to listeriosis before culling. Western blot analysis showed an unusual multiple banded pattern with a low-molecular fragment at ~7 kDa. Histopathology revealed suppurative meningoencephalitis caused by listeriosis in the brainstem. Fine granular to globular immunostaining of disease-associated prion proteins was mainly detected in the neuropil of the spinal tract of the trigeminal nerve and in the white matter of the spinocerebellar tract. Based on these results, this case was conclusively diagnosed as atypical scrapie with encephalitic listeriosis. PMID:27616556

  13. Bisphosphonate-associated atypical subtrochanteric femur fracture.

    Science.gov (United States)

    Wolin, Ely A; Banks, Kevin P; Vroman, Penny J

    2015-03-01

    Bisphosphonates help prevent progressive bone mineralization loss and subsequent osteoporotic fractures. However, long-term bisphosphonate therapy paradoxically increases the risk of a unique injury called an atypical subtrochanteric femur fracture. Despite this, the benefits of bisphosphonates outweigh the risks, because far more pathologic fractures are prevented than induced. The early identification of atypical subtrochanteric femur fractures is important as there is high associated morbidity and mortality. We describe a case of a 76-y-old woman with a completed bisphosphonate-associated atypical subtrochanteric femur fracture.

  14. Cat-scratch disease causing atypical granulomatous conjunctivitis: case report

    OpenAIRE

    Alexandre Hassler Príncipe de Oliveira; Carlos Alberto Pires Pereira; Luciene Barbosa de Sousa; Denise de Freitas

    2004-01-01

    Relatamos caso de paciente do sexo feminino, brasileira, 23 anos, residente na Alemanha, que cursou com quadro de conjuntivite granulomatosa bilateral crônica, sem acometimento ganglionar, não responsiva a tratamento tópico. A pesquisa laboratorial confirmou diagnóstico de conjuntivite por Bartonella henselae. O caso demonstra que a ausência de acometimento ganglionar não exclui o diagnóstico de doença da arranhadura do gato.We report a case of a 23-year-old female patient, Brazilian, residen...

  15. Neuroanatomical distribution of abnormal prion protein in naturally occurring atypical scrapie cases in Great Britain.

    Science.gov (United States)

    Moore, Sarah Jo; Simmons, Marion; Chaplin, Melanie; Spiropoulos, John

    2008-11-01

    Scrapie belongs to a group of diseases known as the transmissible spongiform encephalopathies or prion diseases. Two different categories of naturally occurring scrapie have been identified: classical scrapie, which was first recorded around 1750, and atypical scrapie or 'Nor-98', which was first identified in Norway in 1998. The molecular characteristics of atypical scrapie have been well defined, but detailed descriptions of the neuropathological phenotype are rare since the majority of cases have been detected through active surveillance programmes where only brainstem and cerebellum are collected for statutory diagnosis. In order to characterise the neuropathology of naturally occurring atypical scrapie in sheep, we examined multiple brain levels from 15 whole brains from field cases of atypical scrapie, both clinical suspects and fallen stock, collected in Great Britain between 2004 and 2006. We found that the distribution of disease-associated prion protein (PrP(Sc)) and vacuolation in atypical scrapie cases are very different to both classical scrapie and experimental bovine spongiform encephalopathy in sheep. Immunolabelling for PrP(Sc) is mild and restricted at the obex and more intense and widespread rostrally, particularly in the cerebellum, substantia nigra, thalamus and basal nuclei. Intracellular immunolabelling types are not seen, but distinctive white matter immunolabelling is widespread. Vacuolation associated with PrP(Sc) deposits was not observed in the brainstem neuroanatomical areas commonly affected in classical scrapie and bovine spongiform encephalopathy, but was instead most prominent in the cerebellar cortex and neocortex. This is the largest comprehensive descriptive study of atypical scrapie pathology to date, and provides baseline data against which other natural or experimental cases can be compared. It also reinforces the current recommendation to collect cerebellum in addition to brainstem to enable confident confirmation of this

  16. 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...

  17. [An autopsy case of atypical Friedreich's ataxia with chronic idiopathic intestinal pseudo-obstruction].

    Science.gov (United States)

    Nagata, T; Aoki, M; Hasegawa, T; Shiga, Y; Hayashi, T; Higuchi, J; Abe, K; Tanno, T; Konno, H; Itoyama, Y

    2001-07-01

    We report a 58-year-old man with slowly progressive muscle atrophy and weakness in the four extremities, accompanying cerebellar ataxia and sensory impairment of all modalities. He was a product of consanguineous marriage. His neurological manifestations began in childhood. He was admitted to our hospital because of marked abdominal distension and pretibial edema with hypoalbuminemia and hyperlipidemia. Neuroimaging studies showed marked atrophy of the cerebellum and spinal cord. Nerve conduction studies presented with slowing and sural nerve biopsy revealed demyelination with onion-bulbs. Abdominal distension was interpreted to be caused by chronic idiopathic intestinal pseudo-obstruction (CIIP), leading to protein-losing gastroenteropathy and hypalbuminemia caused by the CIIP. He died of DIC by myelodysplasic syndrome and DIC, two years later. Postmortem study demonstrated with severe loss of anterior horn cells and gliosis in the spinal cord. The Clarke's column was also affected. There was symmetrical degeneration in the dorsal column and corticospinal tracts. The cerebellum showed atrophy of molecular layer, prominent loss of Purkinje's cells and sparse granular cell layer, but no obvious change in the dentate nucleus. Neuronal loss in the dorsal root ganglia was remarkable. There were no alternations in the cerebral cortex, striatum, thalamus, subthalamic nucleus, and pontine nucleus, except for mild changes in substantia nigra and inferior olivary nucleus. This case was clinically suspected either of variant of Friedreich's ataxia or an early onset ataxia associated with hypoalbuminemia (EOAHA), although marked autonomic dysfunction was atypical. But the postmortem study, demonstrated with marked neuronal loss in anterior horn cells and cerebellan cortex and rather suggested an independent category of this case.

  18. EXTENDED MILD-SLOPE EQUATION

    Institute of Scientific and Technical Information of China (English)

    黄虎; 丁平兴; 吕秀红

    2001-01-01

    The Hamiltonian formalism for surface waves and the mild-slope approximation were empolyed in handling the case of slowly varying three-dimensional currents and an uneven bottom, thus leading to an extended mild-slope equation. The bottom topography consists of two components: the slowly varying component whose horizontal length scale is longer than the surface wave length, and the fast varying component with the amplitude being smaller than that of the surface wave. The frequency of the fast varying depth component is, however, comparable to that of the surface waves. The extended mild- slope equation is more widely applicable and contains as special cases famous mild-slope equations below: the classical mild-slope equation of Berkhoff , Kirby' s mild-slope equation with current, and Dingemans' s mild-slope equation for rippled bed. The extended shallow water equations for ambient currents and rapidly varying topography are also obtained.

  19. Atypical cytochrome p450 kinetics: implications for drug discovery.

    Science.gov (United States)

    Tracy, Timothy S

    2006-01-01

    The Michaelis-Menten model is commonly used to estimate a drug's potential in vivo hepatic clearance based on in vitro data obtained during drug discovery and development. This paradigm assumes that the drug obeys 'typical' enzyme kinetics and thus can be described by this model. However, it is increasingly being recognised that a number of drugs metabolised not only by the cytochrome P450 enzymes but also by other enzymes and transporters can exhibit atypical kinetic profiles, and thus are not accurately modeled with the Michaelis-Menten model. Application of an incorrect model can then lead to mis-estimation of in vitro intrinsic clearance and thus affect the prediction of in vivo clearance. This review discusses several types of atypical kinetic profiles that may be observed, including examples of homotropic cooperativity (i.e. sigmoidal kinetics, biphasic kinetics and substrate inhibition kinetics) as well as heterotropic cooperativity (i.e. activation). Application of the incorrect kinetic model may profoundly affect estimations of intrinsic clearance. For example, incorrectly applying the Michaelis-Menten model to a kinetic profile exhibiting substrate inhibition kinetics will result in an underestimation of Km (Michaelis-Menten constant) and V(max) (maximal velocity), whereas application of the Michaelis-Menten model to sigmoidal kinetic data typically results in an overestimation of Km and V(max) at the lower substrate concentrations that are typically therapeutically relevant. One must also be careful of potential artefactual causes of atypical kinetic profiles, such as enzyme activation by solvents, buffer dependent kinetic profiles, or altered kinetic parameter estimates due to nonspecific binding of the substrate to proteins. Despite a plethora of data on the effects of atypical kinetic profiles in vitro, only modest effects have been noted in vivo (with the exception of substrate dependent inhibition). Thus, the clinical relevance of these phenomena

  20. Atypical presentations of Wolframs syndrome

    Directory of Open Access Journals (Sweden)

    S Saran

    2012-01-01

    Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

  1. Atypical presentations of neuromyelitis optica

    Directory of Open Access Journals (Sweden)

    Douglas Sato

    2011-10-01

    Full Text Available Neuromyelitis optica (NMO is an inflammatory disease of central nervous system classically characterized by acute, severe episodes of optic neuritis and longitudinally extensive transverse myelitis, usually with a relapsing course. The identification of an autoantibody exclusively detected in NMO patients against aquaporin-4 (AQP-4 has allowed identification of cases beyond the classical phenotype. Brain lesions, once thought as infrequent, can be observed in NMO patients, but lesions have different characteristics from the ones seen in multiple sclerosis. Additionally, some AQP-4 antibody positive patients may present with a variety of symptoms not being restricted to optic neuritis and acute myelitis during the first attack or in a relapse. Examples are not limited to, but may include patients only with brain and/or brainstem lesions, narcolepsy with hypothalamic lesions or patients with intractable hiccups, nausea and vomiting. The prompt identification of NMO patients with atypical presentations may benefit these patients with institution of early treatment to reduce disability and prevent further attacks.

  2. Posterior cortical atrophy: an atypical variant of Alzheimer disease.

    Science.gov (United States)

    Suárez-González, Aida; Henley, Susie M; Walton, Jill; Crutch, Sebastian J

    2015-06-01

    Posterior cortical atrophy (PCA) is a neurodegenerative syndrome characterized by striking progressive visual impairment and a pattern of atrophy mainly involving posterior cortices. PCA is the most frequent atypical presentation of Alzheimer disease. The purpose of this article is to provide a summary of PCA's neuropsychiatric manifestations. Emotional and psychotic symptoms are discussed in the context of signal characteristic features of the PCA syndrome (the early onset, focal loss of visual perception, focal posterior brain atrophy) and the underlying cause of the disease. The authors' experience with psychotherapeutic intervention and PCA support groups is shared in detail.

  3. Atypical Clavicular Involvement of Nonbacterial Osteitis: An Orthopaedic Enigma

    Directory of Open Access Journals (Sweden)

    Salil Umrani

    2011-12-01

    Full Text Available Nonbacterial osteitis (NBO is an underdiagnosed and poorly understood condition caused by sterile inflammation. It can mimic the presentation of many other orthopaedic conditions, for example, osteomyelitis, septic arthritis, or malignancy, in particular for those patients who have unifocal presentation. Because NBO is a diagnosis by exclusion, it poses much difficulty and confusion to many orthopaedic surgeons in treating such disease. Clavicular involvement is common but it is typically present at the medial aspect of the clavicle. We report a case of NBO with atypical clavicular involvement who presented to our orthopaedic clinic with painful swelling in the left shoulder. Appropriate investigations and management are discussed together with literature review.

  4. A rare case of late atypical post-partum eclampsia

    Directory of Open Access Journals (Sweden)

    Sanjay Singh

    2015-10-01

    Full Text Available Atypical post-partum eclampsia though uncommon is a recognized entity. Here we are presenting a case that developed postpartum eclampsia on day four of delivery without any preceding signs and symptoms of preeclampsia. Keeping this entity in mind would not only help early detection and appropriate institution of management but would also save the patients undergoing unnecessary treatment for a long period of time. This is more relevant for developing country like ours where eclampsia is an important cause of maternal mortality and resources for management of such cases are limited. [Int J Reprod Contracept Obstet Gynecol 2015; 4(5.000: 1645-1646

  5. 非典型性肺炎的分子诊断%Molecular diagnostics of atypical pneumonia

    Institute of Scientific and Technical Information of China (English)

    Tang YW

    2003-01-01

    The emergence of nucleic acid-based molecular techniques has significantly enhanced laboratory diagnosis and monitoring of atypical pneumonia. These techniques have not only provided rapid and sensitive detection of fastidious microbial organisms but have also played critical roles in identifying and characterizing emerging patho gens that cause atypical pneumonia. Other benefits that molecular techniques can bring to the field include organ ism differentiation, quantitation, typing, and antibiotic resistance profiles. Gradually becoming standardized and widely available, the future will see some promising molecular methods become a mainstay in clinical laboratories for recognition and diagnosis of atypical pneumonia pathogens.

  6. Clinical Presentation of Atypical Genital Herpes

    Institute of Scientific and Technical Information of China (English)

    李俊杰; 梁沛杨; 罗北京

    2002-01-01

    Objective: To make a clinical analysis on the basis of 36cases of atypical genital herpes (GH) patients. Methods: Thirty-six cases of atypical GH were diagnosedclinically, and their case histories, symptoms and signs wererecorded in detail and followed up. Polymerase chain reaction(PCR) was adopted for testing HSV2-DNA with cotton-tippedswabs. Enzyme-linked immuno sorbent assay (ELISA) forserum anti-HSV2-IgM was done to establish a definfiivediagnosis. Other diagnoses were excluded at the same time bytesting for related pathogens including fungi, Chlamydia,Mycoplasma, Treponema pallidum, gonococci, Trichomonas,etc. Results: The main clinical manifestations of atypical GHwere: (1) small genital ulcers; (2) inflammation of urethralmeatus; (3) nonspecific genital erythema; (4) papuloid noduleson the glands; (5) nonspecific vaginitis. Twenty-three cases(64%) tested by PCR were HSV2-DNA sera-positive, and 36cases (100 %) anti-HSV2-IgM sera-positive by ELISA. Conclusion: atypical HSV is difficult to be diagnosed. Butthe combination of PCR and ELIAS will be helpful to thediagnosis of atypical HSV.

  7. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Bielanska, M.M.; Khalifa, M.M.; Duncan, A.M.V. [Queen`s Univ., Kingston, Ontario (Canada)

    1996-10-16

    Pallister-Killian syndrome (PKS) is a rare disorder characterized by a specific combination of anomalies, mental retardation and mosaic presence of a supernumerary isochromosome 12p which is tissue-limited. We report an atypical case of PKS with a mild phenotype. Fluorescence in situ hybridization (FISH) was used to demonstrate that the supernumerary marker chromosome identified in the patient`s fibroblasts was an isochromosome 12p. This study broadens the spectrum of PKS phenotype. It also illustrates the usefulness of fluorescence in situ hybridization in diagnosis of patients with chromosomal abnormalities and mild or atypical clinical findings. 40 refs., 2 figs., 1 tab.

  8. Mild Traumatic Brain Injury – Case Report

    Directory of Open Access Journals (Sweden)

    2015-06-01

    Full Text Available A mild traumatic brain injury or a concussion represents the majority of all traumatic brain injuries. The consequences show on physical, cognitive, and emotional functioning and even though the injury classifies as mild, it can have a significant effect on a patient, patient’s family and their quality of life. Defects are often overlooked as objective clinical methods are lacking. Neuropsychological evaluation can aid in appraisal of the defect magnitude and determine factors that influence the outcome of the injured. The following case report addresses the importance of neuropsychological evaluation in treating cognitive defects along with the Cognitive Behavioral therapy approach toward emotional and behavioral disorders treatment in mild traumatic brain injury. It has been shown how important it is to find possible causes for slow recovery. The annuity tendencies have been noted as an important factor for prolongation of the post-concussion syndrome. We can detect the symptom simulation with appropriate psychological instruments. Described is a case of 38-year-old man who suffered a mild traumatic brain injury.

  9. Bovine PrP expression levels in transgenic mice influence transmission characteristics of atypical bovine spongiform encephalopathy

    OpenAIRE

    2012-01-01

    Until recently, transmissible spongiform encephalopathy (TSE) disease in cattle was thought to be caused by a single agent strain, bovine spongiform encephalopathy (BSE) (classical BSE or BSE-C). However, due to the initiation of a large-scale surveillance programme throughout Europe, two atypical BSE strains, bovine amyloidotic spongiform encephalopathy (BASE, also named BSE-L) and BSE-H have since been discovered. These atypical BSE isolates have been previously transmitted to a range of tr...

  10. Neuroleptic malignant syndrome induced by atypical antipsychotics.

    Science.gov (United States)

    Farver, Debra K

    2003-01-01

    A review of the English literature confirms that neuroleptic malignant syndrome (NMS) occurs with both traditional and atypical antipsychotic medications. Published reports of NMS induced by the traditional antipsychotics have given the practitioner valuable information on the prevention and treatment of this adverse effect. Case reports have also been published concerning NMS and clozapine, risperidone, olanzapine and quetiapine. By evaluating the case reports of atypical antipsychotic-induced NMS, valuable information may be obtained concerning similarities or differences from that induced by the traditional antipsychotics. The case reports of NMS with atypical antipsychotics were evaluated for diagnosis, age/sex of patient, risk factors, antipsychotic doses and duration of use, symptoms of NMS, and clinical course.

  11. [Atypical antipsychotic-induced weight gain].

    Science.gov (United States)

    Godlewska, Beata R; Olajossy-Hilkesberger, Luiza; Marmurowska-Michałowska, Halina; Olajossy, Marcin; Landowski, Jerzy

    2006-01-01

    Introduction of a new group of antipsychotic drugs, called atypical because of the proprieties differing them from classical neuroleptics, gave hope for the beginning of a new era in treatment of psychoses, including schizophrenia. Different mechanisms of action not only resulted in a broader spectrum of action and high efficacy but also in a relative lack of extrapiramidal symptoms. However, atypical neuroleptics are not totally free from adverse effects. Symptoms such as sedation, metabolic changes and weight gain, often very quick and severe - present also in the case of classical drugs, but put to the background by extrapiramidal symptoms--have become prominent. Weight gain is important both from the clinical and subjective point of view--as associated with serious somatic consequences and as a source of enormous mental distress. These problems are addressed in this review, with the focus on weight gain associated with the use of specific atypical neuroleptics.

  12. Atypical bisphosphonate-associated subtrochanteric and femoral shaft stress fractures: diagnostic features on bone scan.

    Science.gov (United States)

    Probst, Stephan; Rakheja, Rajan; Stern, Jerry

    2013-05-01

    A 69-year-old woman presented with a spontaneous right subtrochanteric hip fracture. Pan-imaging following orthopedic repair failed to identify a primary malignancy to explain the presumed pathologic basis for this fracture. The patient then underwent bone scintigraphy and SPECT/CT which showed mild uptake in multifocal endosteal thickening of the lateral left femoral diaphysis, diagnostic of bisphosphonate-associated femoral shaft stress fractures, but no evidence of metastatic bone disease. Atypical bisphosphonate-associated subtrochanteric and femoral shaft stress fractures have a fairly specific appearance on bone scintigraphy, and nuclear medicine physicians should be aware of this relatively infrequent emerging pathology.

  13. Cognitive Processing in Mild Disabilities.

    Science.gov (United States)

    Al-Hilawani, Yasser A.; Poteet, James A.

    Research regarding the cognitive processing of students with learning disabilities, mild mental handicap, and emotional handicap is reviewed. In considering cognitive processing for students with mild mental handicap, research attention has been directed to the issues of memory and learning, acquisition and retrieval deficits, inefficient…

  14. Atypical RNAs in the coelacanth transcriptome.

    Science.gov (United States)

    Nitsche, Anne; Doose, Gero; Tafer, Hakim; Robinson, Mark; Saha, Nil Ratan; Gerdol, Marco; Canapa, Adriana; Hoffmann, Steve; Amemiya, Chris T; Stadler, Peter F

    2014-09-01

    Circular and apparently trans-spliced RNAs have recently been reported as abundant types of transcripts in mammalian transcriptome data. Both types of non-colinear RNAs are also abundant in RNA-seq of different tissue from both the African and the Indonesian coelacanth. We observe more than 8,000 lincRNAs with normal gene structure and several thousands of circularized and trans-spliced products, showing that such atypical RNAs form a substantial contribution to the transcriptome. Surprisingly, the majority of the circularizing and trans-connecting splice junctions are unique to atypical forms, that is, are not used in normal isoforms.

  15. Mild Cognitive Impairment

    Science.gov (United States)

    ... diagnosis of MCI or the cause of MCI, biomarker tests such as brain imaging and cerebrospinal fluid ... balance and senses. Evaluation of mood to detect depression; symptoms may include problems with memory or feeling " ...

  16. Isolation and characterization of an atypical Listeria monocytogenes associated with a canine urinary tract infection

    Science.gov (United States)

    Listeria monocytogenes, a well-described cause of encephalitis and abortion in ruminants and of food-borne illness in humans, is rarely associated with disease in companion animals. A case of urinary tract infection associated with an atypical, weakly hemolytic L. monocytogenes strain is described i...

  17. Atypical antipsychotics in the treatment of early-onset schizophrenia

    Directory of Open Access Journals (Sweden)

    Hrdlicka M

    2015-04-01

    Full Text Available Michal Hrdlicka, Iva Dudova Department of Child Psychiatry, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic Abstract: Atypical antipsychotics (AAPs have been successfully used in early-onset schizophrenia (EOS. This review summarizes the randomized, double-blind, controlled studies of AAPs in EOS, including clozapine, risperidone, olanzapine, aripiprazole, paliperidone, quetiapine, and ziprasidone. No significant differences in efficacy between AAPs were found, with the exception of clozapine and ziprasidone. Clozapine demonstrated superior efficacy in treatment-resistant patients with EOS, whereas ziprasidone failed to demonstrate efficacy in the treatment of EOS. Our review also focuses on the onset of action and weight gain associated with AAPs. The data on onset of action of AAPs in pediatric psychiatry are scanty and inconsistent. Olanzapine appears to cause the most significant weight gain in patients with EOS, while ziprasidone and aripiprazole seem to cause the least. Keywords: early-onset schizophrenia, atypical antipsychotics, efficacy, onset of action, weight gain

  18. [Efficacy and safety of azithromycin infusion in patients with mild or moderate community-acquired pneumonia].

    Science.gov (United States)

    Noguchi, Shingo; Yatera, Kazuhiro; Kawanami, Toshinori; Yamasaki, Kei; Uchimura, Keigo; Hata, Ryosuke; Tachiwada, Takashi; Oda, Keishi; Hara, Kanako; Suzuki, Yu; Akata, Kentarou; Ogoshi, Takaaki; Tokuyama, Susumu; Inoue, Naoyuki; Nishida, Chinatsu; Orihashi, Takeshi; Yoshida, Yugo; Kawanami, Yukiko; Taura, Yusuke; Ishimoto, Hiroshi; Obata, Hideto; Tsuda, Toru; Yoshii, Chiharu; Mukae, Hiroshi

    2014-06-01

    Azithromycin (AZM) is one of 15-membered rings macrolide antibiotics with wide spectrum of antimicrobial efficacy for Gram-positive and -negative bacteria and also atypical bacteria. So far, there had been no reports of the prospective studies evaluating efficacy and safety of AZM infusion in patients with mild or moderate community-acquired pneumonia (CAP). This study was conducted to evaluate prospectively the efficacy and safety of AZM in patients with mild or moderate CAP. AZM 500 mg was intravenously administered once daily, and the clinical efficacy were evaluated by clinical symptoms, peripheral blood laboratory findings and chest X-rays. Sixty-four patients were firstly registered, and eventually 61 and 62 patients were enrolled for the evaluation of clinical efficacy and safety of AZM, respectively. The efficacy of AZM in 61 patients evaluated was 88.5%. In addition, the efficacies of AZM in each pneumonia severity index by A-DROP system by the Japanese Respiratory Society (JRS) guideline in CAP were 85.2% in mild and 91.2% in moderate. Furthermore, the efficacy of AZM in each differentiation between suspicion of bacterial pneumonia and that of atypical pneumonia by JRS guideline in CAP were 91.7% in suspicion of atypical pneumonia, and its efficacy was high than that of bacterial pneumonia. Nineteen patients (20 cases; 15 with liver dysfunction, 4 with diarrhea, 1 with vascular pain) out of 62 patients were reported to have possible adverse effects of AZM. All of the patients with these adverse effects demonstrated mild dysfunction and continued AZM treatment, and these dysfunctions normalized soon after cessation of AZM. In conclusion, AZM is effective drug for patients with mild or moderate CAP, and we believe that it may be one of effective choice in the treatment of CAP patients who need hospitalization.

  19. Atypical lymphocytes in dengue: role in diagnosis and prognosis of disease. A systematic review of literature

    Directory of Open Access Journals (Sweden)

    Luz Aida Rey-Caro

    2012-09-01

    Full Text Available Dengue is the arbovirus infection with the highest incidence in the world and a major cause of morbidity and mortality. Disease onset presents as a nonspecific febrile illness, and therefore, tools are required to identify and classify dengue patients at early stage. An useful parameter is the presence of atypical lymphocytes. Objective: to collect and analyze results from existing published studies on atypical lymphocytes and dengue infection, and its effect on diagnosis and prognosis of disease. Materials and methods: was conducted a PubMed and LILACS search under the terms: Dengue AND Atypical lymphocyte (OR Reactive lymphocyte, OR Turk cell, limiting the findings to human studies. The information was classified by its content. Only studies relevant to the topic were included in this study. Results: 68 references were identified using the search strategy, but only 12 met the inclusion criteria. All included studies reported the presence of atypical lymphocytes as particular hematologic finding in patients with dengue, and although it is not a classical specific finding of the disease, their concentrations were significantly higher in these patients, especially in severe forms of the disease. Conclusions: according to this evidence, there may be an association between the presence of atypical lymphocytes and dengue virus infection, but the intensity and usefulness of this finding requires further study and analysis.

  20. Total Hip Arthroplasty for Implant Rupture after Surgery for Atypical Subtrochanteric Femoral Fracture

    Directory of Open Access Journals (Sweden)

    Yu Ozaki

    2016-01-01

    Full Text Available Treatment methods for delayed union and nonunion of atypical femoral fracture are still controversial. Moreover, no treatment method has been established for implant rupture caused by delayed union and nonunion. We encountered a 74-year-old female in whom nonunion-induced implant rupture occurred after treatment of atypical subtrochanteric femoral fracture with internal fixation using a long femoral nail. It was unlikely that sufficient fixation could be obtained by repeating osteosynthesis alone. Moreover, the patient was elderly and early weight-bearing activity was essential for early recovery of ADL. Based on these reasons, we selected one-stage surgery with total hip arthroplasty and osteosynthesis with inverted condylar locking plate as salvage procedures. Bone union was achieved at 6 months after surgery. This case illustrated that osteosynthesis-combined one-staged total hip arthroplasty could be considered as one of the options for nonunion-induced implant rupture of atypical femoral subtrochanteric fracture.

  1. Total Hip Arthroplasty for Implant Rupture after Surgery for Atypical Subtrochanteric Femoral Fracture

    Science.gov (United States)

    Ozaki, Yu; Ochi, Hironori; Watari, Taiji; Matsumoto, Mikio; Kaneko, Kazuo

    2016-01-01

    Treatment methods for delayed union and nonunion of atypical femoral fracture are still controversial. Moreover, no treatment method has been established for implant rupture caused by delayed union and nonunion. We encountered a 74-year-old female in whom nonunion-induced implant rupture occurred after treatment of atypical subtrochanteric femoral fracture with internal fixation using a long femoral nail. It was unlikely that sufficient fixation could be obtained by repeating osteosynthesis alone. Moreover, the patient was elderly and early weight-bearing activity was essential for early recovery of ADL. Based on these reasons, we selected one-stage surgery with total hip arthroplasty and osteosynthesis with inverted condylar locking plate as salvage procedures. Bone union was achieved at 6 months after surgery. This case illustrated that osteosynthesis-combined one-staged total hip arthroplasty could be considered as one of the options for nonunion-induced implant rupture of atypical femoral subtrochanteric fracture. PMID:27818818

  2. Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis

    Directory of Open Access Journals (Sweden)

    Takahito Yuasa

    2015-01-01

    Full Text Available The authors describe the case of a 51-year-old woman with an osteonecrosis of her right femoral head after treatment of an atypical subtrochanteric fracture caused by pycnodysostosis. She had this fracture after a low-trauma fall. She was of short stature with typical facial features, short stubby hands, and radiological features including open cranial sutures, obtuse mandible, and generalized skeletal sclerosis. The majority of cases of atypical subtrochanteric fractures are associated with long-term use of bisphosphonates; some occur in bisphosphonate-free patients. We report a rare case of total hip arthroplasty (THA in a patient with pycnodysostosis who developed an osteonecrosis of the femoral head after treatment of an atypical subtrochanteric femoral fracture. We performed cementless THA in combination with a plate and cables. Cementless THA is a potential intervention in a patient with pycnodysostosis; although the bone quality may have been sclerotic, healing is not a problem in this condition.

  3. Biochemical and molecular studies of atypical nevi

    NARCIS (Netherlands)

    Nieuwpoort, Arno Frans van

    2011-01-01

    The results obtained in this thesis suggest that the most explicit differences between normal and atypical melanocytes are subtle changes in pigment biosynthesis and the functioning of the antioxidant system. Impairment of the antioxidant system and increased levels of pheomelanin result in increase

  4. Non-diabetic atypical necrobiosis lipoidica

    Directory of Open Access Journals (Sweden)

    Mittal R

    1994-01-01

    Full Text Available One 8 year female child had asymptomatic, anaesthetic, hypohidrotic, atrophic, yellowish, waxy plaque on the front of left thigh since 2 months. No nerve thickening was observed clinically or histopathologically. Hyperkeratosis, follicular keratosis, epidermal atrophy, degeneration of collagen, mononuclear granulomas and perivascular mononuclear infiltrate confirmed the clinical diagnosis of atypical necrobiosis lipoidica.

  5. Atypical Pyoderma Gangrenosum Mimicking an Infectious Process

    Directory of Open Access Journals (Sweden)

    Derek To

    2014-01-01

    Full Text Available We present a patient with atypical pyoderma gangrenosum (APG, which involved the patient’s arm and hand. Hemorrhagic bullae and progressive ulcerations were initially thought to be secondary to an infectious process, but a biopsy revealed PG. Awareness of APG by infectious disease services may prevent unnecessary use of broad-spectrum antibiotics.

  6. Atypical pyoderma gangrenosum mimicking an infectious process.

    Science.gov (United States)

    To, Derek; Wong, Aaron; Montessori, Valentina

    2014-01-01

    We present a patient with atypical pyoderma gangrenosum (APG), which involved the patient's arm and hand. Hemorrhagic bullae and progressive ulcerations were initially thought to be secondary to an infectious process, but a biopsy revealed PG. Awareness of APG by infectious disease services may prevent unnecessary use of broad-spectrum antibiotics.

  7. Atypical Alpha Asymmetry in Adults with ADHD

    Science.gov (United States)

    Hale, T. Sigi; Smalley, Susan L.; Hanada, Grant; Macion, James; McCracken, James T.; McGough, James J.; Loo, Sandra K.

    2009-01-01

    Introduction: A growing body of literature suggests atypical cerebral asymmetry and interhemispheric interaction in ADHD. A common means of assessing lateralized brain function in clinical populations has been to examine the relative proportion of EEG alpha activity (8-12 Hz) in each hemisphere (i.e., alpha asymmetry). Increased rightward alpha…

  8. Atypical fractures on long term bisphosphonates therapy.

    LENUS (Irish Health Repository)

    Hussein, W

    2011-01-01

    Bisphosphonates reduce fractures risk in patients with osteoporosis. A new pattern of fractures is now being noted in patients on prolonged bisphosphonate therapy. We report a case of an atypical femoral fracture with preceding pain and highlight the characteristics of these fractures.

  9. Atypical rotavirus among diarrhoeic children living in Belém, Brazil Rotavírus atípicos detectados em crianças diarréicas, em Belém, Brasil

    Directory of Open Access Journals (Sweden)

    Yvone B. Gabbay

    1989-03-01

    Full Text Available Atypical rotaviruses were detected in faeces from two diarrhoeic children living in Belém, Pará, Brazil. Rotavirus particles were detected by electron microscopy and the RNA electrophoresis showed patterns which were compatible with group C rotaviruses. Tests for the presence of group A antigen by enzyme-linked-immunosorbent assay (ELISA were negative. The two children had three successive rotavirus infection and in both cases the atypical strains were excreted at the time of the third infection, causing a mild and short-lasting disease.Rotavírus atípicos foram detectados nas fezes de duas crianças diarreícas residentes em Belém, Brasil. Partículas de rotavírus foram visualizadas por microscopia eletrônica nos espécimes fecais de ambos os pacientes, tendo a eletroforese do ácido ribonucleico (ARN exibido padrões compatíveis com rotavírus do grupo C. Testes imunoenzimáticos (ELISA foram negativos quanto à presença de antígenos do grupo A. As duas crianças apresentaram três infecções sucessivas por esse agente, sendo que, em ambos os casos, os rotavírus atípicos foram excretados por ocasião da terceira infecção, produzindo sintomas brandos e de pouca duração.

  10. [Atypical mycobacterial infection after kidney transplant: two clinical cases].

    Science.gov (United States)

    Mele, Alessandra Antonia; Bilancio, G; Luciani, Remo; Bellizzi, Vincenzo; Palladino, Giuseppe

    2013-01-01

    Infections are an important cause of morbidity and mortality during kidney transplant. In areas where tuberculosis is not endemic, Mycobacteria other than tuberculosis (MOOT), also known as 'atypical' Mycobacteria, are more frequently involved in mycobacterial infections than M. tuberculosis. The incidence of MOOT infection in renal transplant recipients ranges from 0.16 to 0.38 percent. This low rate of reported incidence is, however, often due to delay in diagnosis and lack of therapeutic protocols. Further difficulty is caused by the interaction of antimycobacterial drugs with the post-transplant immunosuppressive regimen, necessitating close monitoring of plasma concentrations and careful dose modification. We present two cases of Mycobacterium Chelonae infection in kidney transplant recipients which differ in both clinical presentation and pharmacological approach.

  11. Should we treat mild subclinical/mild hyperthyroidism? No.

    Science.gov (United States)

    Vanderpump, Mark P J

    2011-08-01

    The management of a patient with subclinical hyperthyroidism or mild thyroid over-activity is controversial. Subclinical hyperthyroidism is defined as a serum thyrotrophin (TSH) below the reference range but a normal thyroxine (T4) and triiodothyronine (T3) level in a patient who is either asymptomatic or has only non-specific symptoms. Epidemiological studies report an overall prevalence of approximately 3%, with men and women over 65 years and those in iodine deficient regions having the highest prevalence. Approximately 50% of subjects are taking levothyroxine. The aetiology for those with endogenous subclinical hyperthyroidism is Graves' disease, toxic nodular goitre or rarely a solitary toxic adenoma or thyroiditis. Non-thyroidal illness is an important cause of false positive low serum TSH test results. Subjects with low but detectable serum TSH values (0.1-0.4 mU/L) usually recover spontaneously when re-tested. It has been estimated that in those with an undetectable serum TSH (hyperthyroidism occurs at a rate up to 5% per year. Advocates of intervening for subclinical hyperthyroidism argue that early treatment might reduce mortality, prevent the later development of atrial fibrillation, osteoporotic fractures, and overt hyperthyroidism but data supporting improvement in outcomes are sparse. No appropriately powered prospective, randomised, controlled, double-blinded trial of intervention for subclinical hyperthyroidism exists. For the vast majority of patients adopting a "wait and see" policy rather than intervention may avoid unnecessary treatment or the potential for harm. Any potential benefits of therapy in subclinical hyperthyroidism must be weighed against the significant morbidity associated with the treatment of hyperthyroidism.

  12. Time to discontinuation of atypical versus typical antipsychotics in the naturalistic treatment of schizophrenia

    Directory of Open Access Journals (Sweden)

    Swartz Marvin

    2006-02-01

    Full Text Available Abstract Background There is an ongoing debate over whether atypical antipsychotics are more effective than typical antipsychotics in the treatment of schizophrenia. This naturalistic study compares atypical and typical antipsychotics on time to all-cause medication discontinuation, a recognized index of medication effectiveness in the treatment of schizophrenia. Methods We used data from a large, 3-year, observational, non-randomized, multisite study of schizophrenia, conducted in the U.S. between 7/1997 and 9/2003. Patients who were initiated on oral atypical antipsychotics (clozapine, olanzapine, risperidone, quetiapine, or ziprasidone or oral typical antipsychotics (low, medium, or high potency were compared on time to all-cause medication discontinuation for 1 year following initiation. Treatment group comparisons were based on treatment episodes using 3 statistical approaches (Kaplan-Meier survival analysis, Cox Proportional Hazards regression model, and propensity score-adjusted bootstrap resampling methods. To further assess the robustness of the findings, sensitivity analyses were performed, including the use of (a only 1 medication episode for each patient, the one with which the patient was treated first, and (b all medication episodes, including those simultaneously initiated on more than 1 antipsychotic. Results Mean time to all-cause medication discontinuation was longer on atypical (N = 1132, 256.3 days compared to typical antipsychotics (N = 534, 197.2 days; p Conclusion In the usual care of schizophrenia patients, time to medication discontinuation for any cause appears significantly longer for atypical than typical antipsychotics regardless of the typical antipsychotic potency level. Findings were primarily driven by clozapine and olanzapine, and to a lesser extent by risperidone. Furthermore, only clozapine and olanzapine therapy showed consistently and significantly longer treatment duration compared to perphenazine, a medium

  13. Questioning the association between bisphosphonates and atypical femoral fractures

    Science.gov (United States)

    Pazianas, Michael; Kim, Se-min; Yuen, Tony; Sun, Li; Epstein, Sol; Zaidi, Mone

    2014-01-01

    Bisphosphonates are the first line treatment for osteoporosis. Structurally, they are stable analogues of pyrophosphate and therefore exhibit a high affinity for bone mineral. They reduce bone loss by attenuating the ability of the osteoclast to resorb bone, decreasing activation frequency and the rate of remodelling. Large prospective randomized placebo-control trials provide unequivocal evidence for a reduction in the incidence of fractures.1 Impressively, 40 years since their first use in patients, the safety profile of bisphosphonates has been equally re-assuring.2 Questions have arisen lately as to whether bisphosphonates could cause atypical fractures, a rare type of atraumatic or minimal trauma femur fracture occurring below the great trochanter. This question has prompted calls for a broader examination of the long-term effects of bisphosphonate use. An attempt by the Food and Drug Administration (FDA) to garner consensus and provide definitive views was not successful.3 This has led to continued anxiety among treating physicians and patients alike, resulting in an overall reduction in prescriptions for bisphosphonates and for osteoporosis therapies in general. Here, we provide an overview of the current data on atypical fractures and bisphosphonate use. PMID:25294742

  14. ATYPICAL GOUT: SPINAL TOPHACEOUS INJURY

    Directory of Open Access Journals (Sweden)

    Maksim Sergeevich Eliseev

    2013-01-01

    Full Text Available Spinal injury in gout occurs rarely at a young age. In the past 5 years, the Pubmed has published only 44 papers on this site of tophi mainly in gouty patients over 40 years of age. We report two such cases in patients with chronic tophaceous gout in a 28-year-old man with a 3-year history of gout and in a 30-year-old man with its 7-year history. In both cases, spinal injury with tophus masses gave rise to neurological symptomatology. Computed tomography and magnetic resonance imaging were of informative value in identifying the causes of pain. In one case, the patient underwent laminectomy; histological evidence confirmed the gouty genesis of spinal injury.

  15. Atypical Manifestations of Dengue Fever (DF) – Where Do We Stand Today?

    Science.gov (United States)

    Nimmagadda, Satya Sudhish; Mahabala, Chakrapani; Boloor, Archith; Raghuram, Pavan Manibettu; Nayak U., Akshatha

    2014-01-01

    Background and Objectives: Dengue fever (DF) is transmitted by Aedes aegypti mosquitoes. With growing population, rapid urbanization and lack of appropriate sanitary measures, proliferation of mosquitoes and subsequent dengue infections have increased rampantly with an estimated 30-fold increase in incidence over last five decades. With rising disease burden, atypical manifestations have increased as well, which are missed most often due to lack of awareness. Our aim was to look for the atypical manifestations of dengue fever. Materials and Methods: A prospective hospital based observational study was conducted at hospitals of Kasturba Medical College in Mangalore over a period of two years (June–2010 to May–2012). One-hundred fifty ELISA confirmed IgM-dengue sero-positive cases satisfying WHO criteria were examined clinically and laboratory data assessed till they got discharged from hospital after ruling out other causes of fever. Atypical manifestations in dengue fever were noted and analyzed. Results: Most common symptoms noticed were myalgia, headache, rash, arthralgia, pain in abdomen and nausea. More than half of the study group had one or the other atypical manifestation. Liver function test derangement was most often seen. Most common atypical manifestation was hepatitis found in 40.6% patients. Febrile diarrhea, renal failure, Acalculous cholecystitis and conduction abnormalities of heart were among other common manifestations. Three patients died of multi-organ dysfunction, disseminated intravascular coagulation and shock. Platelet count did not correlate well with severity of bleeding. Overall recovery rate was good. Conclusion: Some of the atypical manifestations of dengue fever are no more a rare entity. Clinical vigilance for these manifestations is important for timely detection and management as some of them could be fatal. PMID:24596727

  16. Thyroid disorders in mild iodine deficiency

    DEFF Research Database (Denmark)

    Laurberg, P; Nøhr, S B; Pedersen, K M

    2000-01-01

    endangered but the consequences of severe iodine deficiency for brain development are grave and a considerable safety margin is advisable. Moreover, a shift toward less malignant types of thyroid cancer and a lower radiation dose to the thyroid in case of nuclear fallout support that mild-to-moderate iodine...... in elderly subjects, especially women, with risk of cardiac arrhythmias, osteoporosis, and muscle wasting. The hyperthyroidism is caused by autonomous nodular growth and function of the thyroid gland and it is accompanied by a high frequency of goiter. Pregnant women and small children are not immediately...

  17. An atypical presentation of antiphospholipid antibody syndrome.

    Science.gov (United States)

    D'souza, Deepti; Dandakeri, Sukumar; Bhat, M Ramesh; Srinath, M K

    2015-01-01

    Cutaneous manifestations in antiphospholipid antibody syndrome (APS) though common, are extremely diverse and it is important to know which dermatological finding should prompt consideration of antiphospholipid syndrome. The cutaneous manifestations of APS vary from livedo reticularis to cutaneous necrosis, and systemic involvement is invariably an accomplice in APS. Cutaneous ulcers with sharp margins can be seen in APS and they are usually seen on the legs. This case had an atypical presentation, as the initial presentation was painful necrotic ulcers over the legs, which resembled pyoderma gangrenosum and she had no systemic manifestations. There was no history of any arterial or venous thrombosis or any abortions. Antiphospholipid syndrome can be tricky to diagnose when cutaneous lesions are atypical. Nonetheless, it is very important to pin down this syndrome early due to its systemic complications.

  18. An atypical presentation of antiphospholipid antibody syndrome

    Directory of Open Access Journals (Sweden)

    Deepti D′Souza

    2015-01-01

    Full Text Available Cutaneous manifestations in antiphospholipid antibody syndrome (APS though common, are extremely diverse and it is important to know which dermatological finding should prompt consideration of antiphospholipid syndrome. The cutaneous manifestations of APS vary from livedo reticularis to cutaneous necrosis, and systemic involvement is invariably an accomplice in APS. Cutaneous ulcers with sharp margins can be seen in APS and they are usually seen on the legs. This case had an atypical presentation, as the initial presentation was painful necrotic ulcers over the legs, which resembled pyoderma gangrenosum and she had no systemic manifestations. There was no history of any arterial or venous thrombosis or any abortions. Antiphospholipid syndrome can be tricky to diagnose when cutaneous lesions are atypical. Nonetheless, it is very important to pin down this syndrome early due to its systemic complications.

  19. Primary atypical sacral meningioma- not always benign

    Energy Technology Data Exchange (ETDEWEB)

    Bhadra, A.K.; Casey, A.T.H.; Saifuddin, A.; Briggs, T.W. [Royal National Orthopaedic Hospital, Stanmore, London (United Kingdom)

    2007-06-15

    We present a case of an atypical recurrent meningioma of the sacrum with pulmonary metastasis in a 31-year-old man. He presented with deep-seated buttock pain and urinary hesitancy for 3 months. MRI revealed a lesion occupying the central and left side of the sacral canal at the S1-S2 level. Surgical excision of the lesion via a posterior approach was undertaken, and the patient became symptom-free post-operatively. Histology confirmed atypical meningioma. Eight months later he re-presented with similar symptoms, and MRI confirmed local recurrence. The patient underwent left hemisacrectomy. Six months later he again presented with low back pain and MRI confirmed a second local recurrence. A CT scan of the chest showed multiple lung metastases. The patient died of a severe chest infection 18 months later. (orig.)

  20. Atypical reactive histiocytosis. A case report.

    Directory of Open Access Journals (Sweden)

    Jorge E. Barleta del Castillo

    2004-08-01

    Full Text Available This paper presents the case of a 50 year old chronic alcoholic and heavy smoker female that was assisted at the provincial university hospital ¨Dr. Gustavo Aldereguía Lima¨ in Cienfuegos city due to a severe adenic syndrome and who was diagnosed as a case of atypical reactive histiocytosis , problem which disappeared with the abstinence of toxic habits, improving her health.

  1. Bisphosphonate-induced atypical subtrochanteric femoral fracture

    OpenAIRE

    2013-01-01

    The use of bisphosphonates (BPs) is universally accepted in the management of osteoporosis. However, a small percentage of patients have been recognised to develop atypical subtrochanteric fractures of the femur with the prolonged use of BPs. We report a rare case of bilateral insufficiency lesions in the proximal femora, where a major subtrochanteric fracture developed with a minor fall. This was successfully treated with internal fixation using proximal femoral nail.

  2. Atypical manifestations of multiple myeloma: Radiological appearance

    Energy Technology Data Exchange (ETDEWEB)

    Hess, Thomas [Department of Radiology, St-Vincenz Hospital, Auf dem Schafsberg, D-65549 Limburg (Germany)]. E-mail: t.hess@st-vincenz.de; Egerer, Gerlinde [Department of Internal Medicine V, Haematology/Oncology, University of Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg (Germany); Kasper, Bernd [Department of Internal Medicine V, Haematology/Oncology, University of Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg (Germany); Rasul, Kakil Ibrahim [Hamad Medical Center, Moha (Qatar); Goldschmidt, Hartmut [Department of Internal Medicine V, Haematology/Oncology, University of Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg (Germany); Kauffmann, G.W. [Department of Radiology, University of Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg (Germany)

    2006-05-15

    Diagnostic procedures performed on patients with multiple myeloma typically reveal lytic bone lesions, osteopenia or osteoporosis, bone marrow infiltration by plasma cells as well as overproduction of immunoglobulin or light chains in the serum or urine. Skeletal manifestations are extremely variable and the unusual forms have been described extensively. Extramedullary plasma-cell tumours (plasmocytoma) are found in about 5% of newly diagnosed patients with multiple myelomas. In this paper we present eight patients with atypical forms of multiple myeloma.

  3. Atypical retroperitoneal extension of iliopsoas bursitis

    Energy Technology Data Exchange (ETDEWEB)

    Coulier, B.; Cloots, V. [Department of Diagnostic Imaging, Cliniques St. Luc, Rue St Luc 8, 5004, Bouge, Namur (Belgium)

    2003-05-01

    We report two rare cases of iliopsoas bursitis extending into the retroperitoneal space. The first lesion contained much gas, mimicking a retroperitoneal abscess, and the second was responsible for atypical inguinal pain. The diagnosis was made by contrast-enhanced CT in both cases and arthrography in the first case. Iliopsoas bursitis in these two patients, it is hypothesized, extended into the retroperitoneum, at least in part, by way of intraneural or perineural structures. (orig.)

  4. Atypical pityriasis versicolor case report

    Directory of Open Access Journals (Sweden)

    Zonunsanga

    2015-04-01

    Full Text Available Pityriasis versicolor is a superficial fungal infection caused by mycelial form of Malassezia spp, which is confined to stratum corneum. It usually present in the trunk as either hypo or hyperpigmented, aymptomatic, round to oval macules of varying sizes, which may merged to form geographic shape. Diagnosis is usually done clinically, or KOH examination which shows typical spagetti and meat balls appearances, or even by wood’s lamp which shows orange to yellow fluorescence. The case series had been recording in between 2012 to 2013. Within that period, we had recorded 32 cases. All the patients which we had recorded presented with multiple, asymptomatic macules of small sizes varying from 1-2 cm in diameter to 3-4mm in diameter, usually round to oval, hypopigmented, non scaly lesions. 26 patients had lesions on forearms, 3 patients had lesions on dorsa of hands bilaterally, 3 patients had similar kind of lesions on thigh. Besnier’s test was positive in 14 (43.75% patients. KOH examinations showed fungal hyphae in 14 (33.33% patients with typical spagetti and meat balls appearances in 9 (8.13% patients. All of them were given and all of them got response and healed within 2-4 months.

  5. Prophylactic Nailing of Incomplete Atypical Femoral Fractures

    Directory of Open Access Journals (Sweden)

    Chang-Wug Oh

    2013-01-01

    Full Text Available Introduction. Recent reports have described the occurrence of low-energy subtrochanteric and femoral shaft fractures associated with long-term bisphosphonate use. Although information regarding the surgical treatment of these atypical femoral fractures is increasing, it is unclear if the preventive operation is useful in incomplete fractures. This study examined the results of preventive intramedullary nailing for incomplete atypical femoral fractures. Material and Methods. A retrospective search was conducted for patients older than 50 years receiving bisphosphonate therapy, with incomplete, nondisplaced fractures in either the subtrochanteric or diaphyseal area of the femur. Seventeen patients with a total of 20 incomplete, non-displaced lesions were included. The mean duration of bisphosphonate use was 50.5 months. Eleven of the 17 (64.7% patients had complete or incomplete fractures on the contralateral femur. All were treated with prophylactic fixation of an intramedullary (IM nail. The minimum followup was 12 months. Results. All cases healed with a mean period of 14.3 weeks. Nineteen of the 20 cases healed with the dissolution of incomplete fractures of the lateral aspect. A complete fracture developed at the time of nailing in one patient, but it healed with callus bridging. Conclusion. IM nailing appears to be a reliable way of preventing the progress of incomplete atypical femoral fractures.

  6. Transpupillary thermotherapy for atypical central serous chorioretinopathy

    Directory of Open Access Journals (Sweden)

    Kawamura R

    2012-01-01

    Full Text Available Ryosuke Kawamura1,2, Hidenao Ideta1, Hideyuki Hori1, Kenya Yuki2, Tsuyoshi Uno1, Tatsurou Tanabe1, Kazuo Tsubota2, Tsutomu Kawasaki11Ideta Eye Hospital, Kumamoto, Japan; 2Keio University, School of Medicine, Department of Ophthalmology, Tokyo, JapanBackground: Central serous chorioretinopathy (CSC has been traditionally treated with laser photocoagulation. We thought that transpupillary thermotherapy (TTT utilizing a lower temperature than that of conventional laser photocoagulation might minimize permanent retinal and choroidal damage. Studies suggest that undesirable effects on vision due to TTT are minimal even if it is applied to foveal and/or parafoveal lesions when TTT requires a larger irradiation spot. The aim of this study was to evaluate the efficacy of TTT in the management of atypical CSC.Methods: We defined atypical CSC as bullous retinal detachment with diffuse or several leakages, severe leakage with fibrin formation under serous retinal detachment, or leakage within a pigment epithelium detachment. Eight consecutive patients with atypical CSC underwent visual acuity testing, ophthalmic examination, color photography, fluorescein angiography, and optical coherence tomography to evaluate the results of transpupillary thermotherapy. Retreatment of atypical CSC was based on ophthalmic examination, optical coherence tomography, and fluorescein angiography. TTT was performed on the leaking spots shown in fluorescein angiography, with a power of 50–250 mW, spot size of 500–1200 µm, and exposure time of 13–60 seconds to minimize retinal damage.Results: In five of eight affected eyes, serous detachments completely resolved within 1 month after the initial TTT. One eye had persistent subretinal fluid and required a second TTT treatment. Two eyes showed no resolution of CSC and were treated by conventional photocoagulation. Initial best-corrected visual acuity (BCVA ranged from 20/600 to 20/20 (mean, 20/40; median, 20/30. Final BCVA

  7. Mild mental stress in diabetes

    DEFF Research Database (Denmark)

    Hildebrandt, P; Mehlsen, J; Sestoft, L;

    1985-01-01

    A TV-game of tennis of 20 min duration was used to study the influence of mild mental stress on subcutaneous blood-flow (SBF), blood-pressure and heart rate in nine insulin-dependent diabetics and nine healthy subjects. SBF was measured on the thigh by local clearance of xenon-133. Measurements......--increase in blood-pressure was observed in both groups. In conclusion, we found that even mild mental strain influences SBF in both normal subjects and in diabetics. The induced alterations in the two groups are different, probably because of a slight parasympathetic dysfunction in the diabetics....

  8. [Sulpiride: the best known atypical, safe neuroleptic drug. Review of literature].

    Science.gov (United States)

    Rzewuska, M

    1998-01-01

    This is a review of literature data on a neuroleptic drug--sulpiride. Sulpiride, a benzamide derivative displays selective affinity for mesolimbic and mesocortical dopamine receptors. For this reason it is classified as an atypical antipsychotic drug. In clinical use, it causes undesirable side effects (particularly extrapyramidal, cholinolytical) less often than classical neuroleptics, does not cause sedation, and has activating and antidepressive properties. These characteristics caused that it is considered a drug of first choice in delusional psychoses with inhibition, depression, lowered activity, intensified negative or deterioration symptoms. The most serious drawback of the drug is the risk of symptoms caused by increased prolactine excretion, and increase in body weight.

  9. Repeated mild injury causes cumulative damage to hippocampal cells

    NARCIS (Netherlands)

    E.J. Matser (Amy); C.I. de Zeeuw (Chris); J.T. Weber (John)

    2002-01-01

    textabstractAn interesting hypothesis in the study of neurotrauma is that repeated traumatic brain injury may result in cumulative damage to cells of the brain. However, post-injury sequelae are difficult to address at the cellular level in vivo. Therefore, it is necessary to compl

  10. An Interesting Case of Life-Threatening Hypercalcemia Secondary to Atypical Parathyroid Adenoma versus Parathyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Ankur Mishra

    2014-01-01

    Full Text Available Context. Severe hypercalcemia is a life-threatening condition. Atypical parathyroid adenoma and parathyroid carcinomas are uncommon causes which can be difficult to differentiate. Objective. We report a case of a 36-year-old male with very high serum calcium due to a possible atypical parathyroid adenoma versus parathyroid carcinoma. Case Illustration. A serum calcium level of 23.2 mg/dl was noted on admission. He was initially treated with IV hydration, pamidronate, and salmon calcitonin to lower his calcium levels. He also underwent a surgical en bloc resection of parathyroid mass. Pathology showed a mixed picture consistent with possible atypical adenoma versus parathyroid carcinoma. However, due to the possible involvement of the recurrent laryngeal nerve, parathyroid carcinoma was more likely. Also after operation the patient developed hungry bones syndrome and his calcium was replaced vigorously. He continues to be on calcium, vitamin D, and calcitriol supplementation. Results. A review of the literature was conducted to identify previous studies pertaining to parathyroid adenomas and parathyroid cancer. Conclusion. We thereby conclude that hypercalcemia requires very careful monitoring especially after operation. Also it can be very difficult to distinguish between atypical parathyroid adenomas and parathyroid carcinomas as in our case and no clear cut guidelines yet exist to differentiate the two based on histology.

  11. MBL2 polymorphisms in women with atypical squamous cells of undetermined significance.

    Science.gov (United States)

    Zupin, Luisa; Polesello, Vania; Casalicchio, Giorgia; Freato, Nadia; Maestri, Iva; Comar, Manola; Crovella, Sergio; Segat, Ludovica

    2015-05-01

    Infection with high risk Human papillomavirus (HPV) is the main known cause of cervical cancer. HPV induces different grades of lesions: among them, Atypical squamous cells of undetermined significance are abnormal lesions that could evolve in pre-cancer lesions or spontaneously regress. The mannose binding lectin (MBL) is an innate immunity serum protein also found in cervico-vaginal mucosa, whose expression is known to be affected by polymorphisms in exon 1 and promoter of the MBL2 gene. In the present study the possible association between MBL2 functional polymorphisms and susceptibility to develop atypical squamous cells of undetermined significance was investigated in a group of women from North-East of Italy, stratified for HPV infection status. The MBL2 D and O alleles and the deficient producer combined genotypes, responsible for low MBL production, were more represented among atypical squamous cells of undetermined significance positive women than healthy controls and the results were confirmed when only HPV negative samples were considered. These results suggest a possible involvement of MBL2 functional polymorphisms in atypical squamous cells of undetermined significance susceptibility.

  12. Atypical meningioma and extensive calvarium defects in neurofibromatosis type 1

    Energy Technology Data Exchange (ETDEWEB)

    Simsek, Enver [Department of Paediatrics, Duzce Medical Faculty, Abant Izzet Baysal University, Konuralp-Duzce (Turkey); Yavuz, Cevdet [Department of Neurosurgery, Duzce Medical Faculty, Abant Izzet Baysal University, Konuralp-Duzce (Turkey); Ustundag, Nil [Department of Pathology, Abant Izzet Baysal University School of Medicine, Konuralp-Duzce (Turkey)

    2003-08-01

    A 9-year-old girl with neurofibromatosis type 1 (NF1) presented with a massive atypical meningioma and calvarial defect. Skull radiographs and cranial CT showed an extensive lytic bone lesion at the vertex. MRI demonstrated a large mass invading the calvarium and sagittal sinus. The histopathological and immunohistochemical diagnosis of the resected mass was atypical meningioma. To our knowledge, this is the first case of NF1 associated with atypical meningioma and massive calvarial defect in a child. (orig.)

  13. Analysis on New Characteristics and Causes of Mild Occurrence of the Meadow Moth(Loxostege sticticalis L.)in 2010 in China%2010年中国草地螟轻发年份的新特点与成因探讨

    Institute of Scientific and Technical Information of China (English)

    曾娟; 姜玉英

    2011-01-01

    Based on normative and continuous field investigation and observation on multi-monitoring-sites in 10 provinces, comparing with historic data, it' s indicated that new characteristics and causes analysis in mild occurrence years are important and inspiring to reveal the annually variational regulations of the meadow moth {Loxostege sticticalis L.) in China. The occurrence area in 2010 was the least in the third outbreak cycle in China; nevertheless there were some new characteristics, such as convergent immigration of the first generation moth into northern Shanxi, bringing on next larvae outbreak in local region, and discovery of the second generation larvae and over-winter chrysalis in Altai region of Xinjiang. The mild occurrence were caused by small emergence amount of over-winter generation in 2009, absence of large-scale immigrating moth beyond frontier, and unfitted climate and entironment condition in most northern region in China in 2010 spring. As the conclusions, this paper emphasized the impact of out-boundary immigration population and micro-habitat condition on abnormal occurrence in Shanxi, the significance of first appearance of the second generation larvae and over-winter chrysalis in Altai region of Xinjiang, the effect of generation reservation on population continuance, and the reason of strengthening surveillance and research on the meadow moth in mild occurrence years.%为揭示草地螟在中国北方农牧区发生危害的年度间变化规律,探明轻发年份的成因和警示意义,通过10个主发省份多个监测点规范连续、广泛系统的测报调查及历史数据比对.结果表明,2010年草地螟发生面积是第3个暴发周期以来最小的一年,在这一轻发年份中,出现了山西北部一代成虫集中迁入、二代幼虫局部成灾,新疆阿勒泰地区首见二代幼虫和越冬茧等新的特点.分析讨论了2010年北方大部农牧区草地螟轻发的主要原因有:2009

  14. MILD BLEEDERS: DIAGNOSIS IS ELUSIVE IN LARGE NUMBER OF PATIENTS

    Directory of Open Access Journals (Sweden)

    Mrinalini kotru

    2016-10-01

    Full Text Available Abstract. Background: Bleeding is a common clinical presentation. Even patients with mild bleeding disorders are extensively investigated for ascertaining the cause. The present study was conducted in order to evaluate the extent of the possibility of diagnosis in mild bleeding disorders. Material and Methods: This was a prospective study of patients referred for work up of mild bleeding for a period of 13 months. A complete blood count, peripheral smear examination, Prothrombin time, Partial Thromboplastin time and Thrombin Time, Platelet Aggregometry test, tests for von Willebrand’s disease and Platelet function 3 availability were measured. Results: 164 patients presented with mild bleeding, in 114 of the  patients a single site of bleeding was present. Epistaxis was the most common presentation (39%. Cutaneous bleeding (petechiae and purpura was the next common site. History of a major bleeding tendency in the family was present only in 11 patients. The investigations showed that VWD (17/164, followed by clotting disorders (CD mainly mild hemophilia (15/164 were the most common diagnosable cause. There were also 4 cases of hypofibrinogenemia. The disorders of platelets (Platelet function defects/PFD were the least common (9/164. Rest 123 (75% patients could not be diagnosed on the basis of these investigations and were labeled as  Bleeding disorders – Unclassified (BDC. Conclusion: n our study, 75% of the patients with mild bleeding remained undiagnosed even after extensive laboratory workup, thus raising a very pertinent question that is it necessary that all mild bleeders submit to a broad battery of investigations, as the diagnosis continues to be elusive despite extensive workup.

  15. Atypical And Severe Enlargement Of Right Atrium.

    Science.gov (United States)

    Siniscalchi, Carmine; Rossetti, Pietro; Rocci, Anna; Rubino, Pasquale; Basaglia, Manuela; Gaibazzi, Nicola; Quintavalla, Roberto

    2016-09-13

    A 76 year-old woman was admitted to the Emergency Department for recent-onset dyspnea and cough. The electrocardiogram was considered inconclusive. A thoracic X-ray showed global cardiac profile enlargement. Computed tomography, acutely performed in the clinical suspicion of atypical pneumonia/myocarditis or pericardial effusion, showed cardiac enlargement especially of the right chambers. In order to investigate Ebstein's anomaly, pericardial cysts, tumors or other conditions of the right heart a simple trans-thoracic echocardiogram was performed. Four chambers view showed a giant right atrium aneurysm with moderate tricuspid regurgitation without stenosis or typical Ebstein's echocardiographic pattern.

  16. Wilson’s disease: Atypical imaging features

    Directory of Open Access Journals (Sweden)

    Venugopalan Y Vishnu

    2016-10-01

    Full Text Available Wilson’s disease is a genetic movement disorder with characteristic clinical and imaging features. We report a 17- year-old boy who presented with sialorrhea, hypophonic speech, paraparesis with repeated falls and recurrent seizures along with cognitive decline. He had bilateral Kayser Flescher rings. Other than the typical features of Wilson’s disease in cranial MRI, there were extensive white matter signal abnormalities (T2 and FLAIR hyperintensities and gyriform contrast enhancement which are rare imaging features in Wilson's disease. A high index of suspicion is required to diagnose Wilson’s disease when atypical imaging features are present.

  17. Atypical outcome in attention deficit hyperactivity disorder.

    Science.gov (United States)

    Schmidt, K; Freidson, S

    1990-07-01

    This report describes the course of psychiatric illness in two boys. Both presented with attention deficit hyperactivity disorder (ADHD) in midchildhood; after puberty, one boy developed a schizophrenic illness while the other boy developed a major affective illness. Although the major ADHD outcome studies have found no link between the childhood occurrence of ADHD and psychosis in adulthood, occasionally such a link may exist. The theoretical and practical implications of this finding are discussed. It should be noted, however, that such outcome is highly atypical and very rare.

  18. Atypical Log D profile of rifampicin

    Directory of Open Access Journals (Sweden)

    Mariappan T

    2007-01-01

    Full Text Available The distribution coefficient (log D values of rifampicin, an essential first-line antitubercular drug, at gastrointestinal pH conditions are not reported in literature. Hence determinations were made using n-octanol and buffers ranging between pH 1-7. Also, log D values were predicted using Prolog D. Both the determinations showed opposite behaviour. The atypical experimental log D profile of rifampicin could be attributed to its surface-active properties, which also explained the reported permeability behaviour of the drug in various gastrointestinal tract segments.

  19. Atypical giant chondroblastoma mimicking a chondrosarcoma.

    Science.gov (United States)

    Dhanda, Sunita; Menon, Santosh; Gulia, Ashish

    2015-01-01

    Chondroblastoma is a rare, benign tumor derived from chondroblasts, commonly presenting in the second decade of life. It is usually found in the epiphysis or apophysis of long bones; however, it may rarely affect flat bones like scapula. Occasionally a histologically typical chondroblastoma may exhibit an aggressive behavior that is not normally associated with benign tumors such as a large size, pulmonary metastases, joint and soft-tissue infiltration and local recurrence. We present a case report of a patient with chondroblastoma showing atypical radiological presentation and non-concordance with age.

  20. Bisphosphonates and Atypical Fractures of Femur

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    Tero Yli-Kyyny

    2011-01-01

    Full Text Available Bisphosphonates are the most widely prescribed medicines for the treatment of osteoporosis and have generally been regarded as well-tolerated and safe drugs. Since 2005, there have been numerous case reports about atypical fractures of the femur linked to long-term treatment of osteoporosis with bisphosphonates. Some attempts to characterize pathophysiology and epidemiology of these fractures have been published as well. However, as the American Society for Bone and Mineral Research (ASBMR concluded in their task force report, the subject warrants further studies.

  1. Atypical calcific tendinitis with cortical erosions

    Energy Technology Data Exchange (ETDEWEB)

    Kraemer, E.J. [College of Medicine, Univ. of Iowa, Iowa City, IA (United States); El-Khoury, G.Y. [Dept. of Radiology and Orthopaedics, Univ. of Iowa, Iowa City, IA (United States)

    2000-12-01

    Objective. To present and discuss six cases of calcific tendinitis in atypical locations (one at the insertion of the pectoralis major and five at the insertion of the gluteus maximus).Patients and results. All cases were associated with cortical erosions, and five had soft tissue calcifications. The initial presentation was confusing and the patients were suspected of having infection or neoplastic disease.Conclusion. Calcific tendinitis is a self-limiting condition. It is important to recognize the imaging features of this condition to avoid unnecessary investigation and surgery. (orig.)

  2. Gorlin’s syndrome: Atypical case report

    Directory of Open Access Journals (Sweden)

    Sanjay N. Agrawal

    2014-10-01

    Full Text Available Gorlin syndrome or basal cell nevus syndrome (BCNS is a rare autosomal dominant disorder. The condition appears to have complete penetrance and variable expressivity, which makes clinilcal presentation among families variable. All known BCNS carry mutations in PATCHED gene. A 65 years old male patient presented with complaints of characteristic skin lesions on his face, back, palms since early adulthood. The lesions were pigmented nodules with characteristic border. The histopathology showed characteristic features suggestive of Basal Cell Carcinoma (BCC. This case was atypical due to appearance of lesions quite later in life.

  3. Atypical presentation of childhood obsessive compulsive disorder

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    Satyakam Mohapatra

    2016-01-01

    Full Text Available Obsessive-compulsive disorder (OCD is one of the most prevalent psychiatric disorders in children and adolescents. The phenomenology of OCD in children and adolescent is strikingly similar to that of adults. But at times, the presentation of OCD may be so atypical or unusual in children and adolescents that may lead to misdiagnosis or delay in diagnosis. We report a case of 10-year-old child who was initially misdiagnosed with schizophrenia, and treated with antipsychotic for 2 months. But once the core symptoms were recognized as obsessions and compulsions and appropriately treated in the line of OCD, the symptoms resolved significantly.

  4. Functional abdominal pain causing Scurvy, Pellagra, and Hypovitaminosis A

    OpenAIRE

    2014-01-01

    Severe vitamin deficiency disease is rarely seen in developed countries. We present an atypical case of a young man with scurvy, pellagra, and hypovitaminosis A, caused by longstanding functional abdominal pain that severely limited his ability to eat.

  5. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

    Science.gov (United States)

    Vieira, Gustavo H; Rodriguez, Jayson D; Carmona-Mora, Paulina; Cao, Lei; Gamba, Bruno F; Carvalho, Daniel R; de Rezende Duarte, Andréa; Santos, Suely R; de Souza, Deise H; DuPont, Barbara R; Walz, Katherina; Moretti-Ferreira, Danilo; Srivastava, Anand K

    2012-02-01

    Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ~139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS.

  6. Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L that lead to atypical galactosemia

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    Benjamin Cocanougher

    2015-06-01

    Full Text Available Galactosemia is a metabolic disorder caused by mutations in the GALT gene [1,2]. We encountered a patient heterozygous for a known pathogenic H132Q mutation and a novel S222N variant of unknown significance [3]. Reminiscent of patients with the S135L mutation, our patient had loss of GALT enzyme activity in erythrocytes but a very mild clinical phenotype [3–8]. We performed splicing experiments and computational structural analyses to investigate the role of the novel S222N variant. Alamut software data predicted loss of splicing enhancers for the S222N and S135L mutations [9,10]. A cDNA library was generated from our patient׳s RNA to investigate for splicing errors, but no change in transcript length was seen [3]. In silico structural analysis was performed to investigate enzyme stability and attempt to understand the mechanism of the atypical galactosemia phenotype. Stability results are publicly available in the GALT Protein Database 2.0 [11–14]. Animations were created to give the reader a dynamic view of the enzyme structure and mutation locations. Protein database files and python scripts are included for further investigation.

  7. A macroprolactinoma becoming resistant to cabergoline and developing atypical pathology

    Science.gov (United States)

    Farah, George; Fathelrahman, Ahmed; Cudlip, Simon; Ansorge, Olaf; Karavitaki, Niki; Grossman, Ashley B

    2016-01-01

    Summary Pituitary adenomas are a common intracranial neoplasm, usually demonstrating a benign phenotype. They can be classified according to pathological, radiological or clinical behaviour as typical, atypical or carcinomas, invasive or noninvasive, and aggressive or nonaggressive. Prolactinomas account for 40–60% of all pituitary adenomas, with dopamine agonists representing the first-line treatment and surgery/radiotherapy reserved for drug intolerance/resistance or in neuro-ophthalmological emergencies. We present the case of a 62-year-old man with an apparently indolent prolactin-secreting macroadenoma managed with partial resection and initially showing a biochemical response to cabergoline. Five years later, the tumour became resistant to cabergoline, despite a substantial increase in dosage, showing rapid growth and causing worsening of vision. The patient then underwent two further transsphenoidal operations and continued on high-dose cabergoline; despite these interventions, the tumour continued enlarging and prolactin increased to 107 269 U/L. Histology of the third surgical specimen demonstrated features of aggressive behaviour (atypical adenoma with a high cell proliferation index) not present in the tumour removed at the first operation. Subsequently, he was referred for radiotherapy aiming to control tumour growth. Learning points: The development of secondary resistance to dopamine agonists (DAs) is a serious sign as it may be associated with de-differentiation of the prolactinoma and thus of aggressive or malignant transformation. Significant de-differentiation of the adenoma documented on consecutive histologies suggests a possible transition to malignancy. A combination of histological ‘alarm’ features associated with persistent growth and escape from DAs treatment in recurrent adenomas should alert clinicians and demands close follow-up. A multidisciplinary approach by pathologists, endocrinologists and neurosurgeons is essential. PMID

  8. Predictors of effect of atypical antipsychotics on speech

    Directory of Open Access Journals (Sweden)

    Preeti Sinha

    2015-01-01

    Full Text Available Background: Most of the studies have looked into the effect of typical antipsychotics on speech secondary to tardive dyskinesia. Aims: This study was aimed to explore the factors predicting the effect of atypical antipsychotic medications on the production of speech. Materials and Methods: One hundred and forty patients on stable regimen of three or more months on risperidone (92, olanzapine (28, aripiprazole (14, and clozapine (6 were recruited for the study. Speech was assessed by maximum phonation duration task, s/z ratio, diadochokinetic task, acoustic analysis and Frenchay Dysarthria Assessment (FDA. Extrapyramidal symptoms (EPS were assessed by Simpson Angus scale. Statistical Analysis: Spearman correlation analysis was carried out to find the association between speech parameters and continuous variables. Effect of EPS, duration and dose of antipsychotic treatment on speech parameters was compared using Mann-Whitney test. Results: The risperidone group differ from other antipsychotics groups significantly in s/z ratio (0.07, FDA-total (0.23 and FDA-reflex (0.25. People who took antipsychotic for more than 2 years had lower score of FDA-palate (P = 0.042, and FDA-respiratory (P = 0.04 and higher values in noise-harmonic ratio (P = 0.011 and maximum /fundamental frequency (MFF for males (P = 0.02. Effect of EPS was seen on MFF for males (spearman correlation coefficient = 0.34 and on almost all sections of FDA (spearman correlation coefficients = -0.2 to -0.33. Conclusion: Both duration of use and propensity of atypical antipsychotics to cause EPS can influence the speech performance of the patients. This information can be useful, particularly in people with the requirement of high quality speech.

  9. Atypical Celiac Disease: From Recognizing to Managing

    Directory of Open Access Journals (Sweden)

    B. Admou

    2012-01-01

    Full Text Available The nonclassic clinical presentation of celiac disease (CD becomes increasingly common in physician’s daily practice, which requires an awareness of its many clinical faces with atypical, silent, and latent forms. Besides the common genetic background (HLA DQ2/DQ8 of the disease, other non-HLA genes are now notably reported with a probable association to atypical forms. The availability of high-sensitive and specific serologic tests such as antitissue transglutuminase, antiendomysium, and more recent antideamidated, gliadin peptide antibodies permits to efficiently uncover a large portion of the submerged CD iceberg, including individuals having conditions associated with a high risk of developing CD (type 1 diabetes, autoimmune diseases, Down syndrome, family history of CD, etc., biologic abnormalities (iron deficiency anemia, abnormal transaminase levels, etc., and extraintestinal symptoms (short stature, neuropsychiatric disorders, alopecia, dental enamel hypoplasia, recurrent aphtous stomatitis, etc.. Despite the therapeutic alternatives currently in developing, the strict adherence to a GFD remains the only effective and safe therapy for CD.

  10. Hypoglycin A Concentrations in Maple Tree Species in the Netherlands and the Occurrence of Atypical Myopathy in Horses

    NARCIS (Netherlands)

    Westermann, C.M.; Leeuwen, van R.; Raamsdonk, van L.W.D.; Mol, H.G.J.

    2016-01-01

    Background: Atypical myopathy (AM) in horses is caused by the plant toxin hypoglycin A, which in Europe typically is found in the sycamore maple tree (Acer pseudoplatanus). Owners are concerned about whether their horses are in danger if they graze near maple trees. Hypothesis/Objectives: To meas

  11. Fatal toxoplasmosis associated with an atypical Toxoplasma gondii strain in a Bennett’s wallaby (Macropus rufogriseus) in Spain

    Science.gov (United States)

    Toxoplasmosis is often fatal in captive wallabies, but the causes of this high susceptibility are not well understood. Here, we report fatal toxoplasmosis in a Bennet´s wallaby (Macropus rufogriseus) due to an atypical T. gondii strain for the first time in Europe. The wallaby was one of a colony of...

  12. Atypical relapse of hemolytic uremic syndrome after transplantation.

    NARCIS (Netherlands)

    Olie, K.H.; Florquin, S.; Groothoff, J.W.; Verlaak, R.; Strain, L.; Goodship, T.H.; Weening, J.J.; Davin, J.C.

    2004-01-01

    Atypical hemolytic uremic syndrome (HUS) frequently leads to end-stage renal failure and can relapse after transplantation. A 12-year-old girl presenting with familial atypical HUS with a factor H mutation was successfully transplanted 6 years after a first transplant that had failed because of imme

  13. Chronic mild stress impact: are females more vulnerable?

    Science.gov (United States)

    Dalla, C; Antoniou, K; Drossopoulou, G; Xagoraris, M; Kokras, N; Sfikakis, A; Papadopoulou-Daifoti, Z

    2005-01-01

    Despite the knowledge that women are more susceptible than men to stress-related mental illness, such as major depression, there is no comprehensive estimation of the role of gender in the detrimental effects of chronic stress that might cause depression. Sex differences regarding the association of behavioral parameters with serotonergic and hypothalamic-pituitary-adrenal axis activities were investigated in the chronic mild stress model of depression. Additionally, the impact of chronic mild stress exposure on an additional/novel short-term stressful procedure, such as the forced swim test was examined in male and female rats. Female rats were found to be more vulnerable to chronic mild stress and that was depicted with disruption of sucrose intake, decreases in open field activity, increased corticosterone levels, alteration in estrous cycle and decreased serotonergic activity in hippocampus and hypothalamus. On the contrary, in males the current chronic mild stress protocol elicited only behavioral changes, such as disruption in sucrose intake and decreased open field activity. Interestingly, in response to forced swim test, females previously subjected to chronic mild stress, were found to cope better by exhibiting increased active behavior in the second forced swim test session and higher hypothalamic serotonergic activity in comparison with corresponding males. On the other hand, males were more affected by previous chronic mild stress exposure and that was manifested by decreased active behavior in the first forced swim test session and increased corticosterone levels following second forced swim test session. These data indicate that although females are more vulnerable in the application of chronic mild stress than males, in response to an additional-novel stressor (forced swim test) they show better response. Therefore, both sex/gender and combination of stressful procedures should be carefully considered in the study of the pathophysiology of stress

  14. A case of atypical scleromyxedema mimicking angioedema which responded well to acitretin treatment

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    Özlem Ekiz

    2015-03-01

    Full Text Available A 37-year-old male patient was admitted our clinic with complaints of edema and mild pruritus on the eyelids, ears, and neck. On dermatological examination there were pale erythema and edema on eyelids and ears; also coarsening of the facial skin and grooving in the forehead lines. In his medical history, it was learned that systemic corticosteroids, antihistamines and epinephrine treatments were given with the diagnosis of urticaria, angioedema for about two months, but he did not benefit from these treatments. A diagnosis of atypical scleromyxedema without monoclonal gammopathy was done according to the clinical, histopathological and laboratory findings. Acitretin treatment with a dose of 35 mg/day was started. Marked regression in the lesions was observed two months later.

  15. Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

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    Kirsten A Petrie

    Full Text Available Fibrodysplasia Ossificans Progressiva (FOP is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed by the presence of shortened great toes and there is severe advancement of disability with age. FOP has been shown to result from a point mutation (c.617G>A in the ACVR1 gene in almost all patients reported. Very recently two other mutations have been described in three FOP patients. We present here evidence for two further unique mutations (c.605G>T and c.983G>A in this gene in two FOP patients with some atypical digit abnormalities and other clinical features. The observation of disparate missense mutations mapped to the GS and kinase domains of the protein supports the disease model of mild kinase activation and provides a potential rationale for phenotypic variation.

  16. Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

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    Ranji Chibbar

    2010-01-01

    Full Text Available A large kindred of familial pulmonary fibrosis is reported. Six members from the first two generations of this particular kindred were described more than 40 years previously; six more individuals from the third and fourth generations have also been evaluated. The proband, now 23 years of age, has mild disease; the other 11 documented affected family members all died from their disease at an average age of 37 years (range 25 to 50 years. The pathology was that of usual interstitial pneumonia, as is typical in idiopathic pulmonary fibrosis. However, the initial radiographic pattern in many of these individuals was upper lobe and nodular and, along with the young age, was atypical for idiopathic pulmonary fibrosis. Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATP-binding cassette protein A3 and telomerase, and found no abnormalities.

  17. Giant Cell Arteritis: An Atypical Presentation Diagnosed with the Use of MRI Imaging

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    Siddesh Shambhu

    2016-01-01

    Full Text Available Giant cell arteritis (GCA is the most common primary systemic vasculitis in western countries in individuals over the age of 50. It is typically characterised by the granulomatous involvement of large and medium sized blood vessels branching of the aorta with particular tendencies for involving the extracranial branches of the carotid artery. Generally the diagnosis is straightforward when characteristic symptoms such as headache, jaw claudication, or other ischemic complications are present. Atypical presentations of GCA without “overt” cranial ischemic manifestations have become increasingly recognised but we report for the first time a case of GCA presenting as mild upper abdominal pain and generalized weakness in the context of hyponatremia as the presenting manifestation of vasculitis that was subsequently diagnosed by MRI scanning. This case adds to the literature and emphasises the importance of MRI in the evaluation of GCA patients without “classic” cranial ischemic symptoms.

  18. An atypical presentation of Acanthamoeba keratitis in a noncontact lens wearer.

    Science.gov (United States)

    Speer, Christine E; Hofmeister, Elizabeth M; Cohen, Elisabeth J

    2003-01-01

    This article presents the case of a 49-year-old man who did not have a history of wearing contact lenses and who developed a rapidly progressive course of Acanthamoeba keratitis. The patient developed stromal keratitis that did not respond to herpes simplex virus therapies. Within 1 week after presentation, the patient progressed from mild anterior stromal haze and edema to a ring infiltrate, epithelial loss, and significant corneal edema. Corneal scrapings demonstrated cysts consistent with Acanthanmoeba keratitis. The patient was admitted to the hospital and placed on intensive medical therapy. He responded to therapy, and at 5 months showed central scarring in a quiet eye. This article presents a case of Acanthamoeba keratitis in a non-contact lens wearer, who was diagnosed clinically and histopathologically within 1 week of onset of symptoms. His case was atypical given his lack of contact lens wear or antecedent trauma and rapid progression to a ring infiltrate, usually seen as late findings.

  19. Imaging the neurobiological substrate of atypical depression by SPECT

    Energy Technology Data Exchange (ETDEWEB)

    Pagani, Marco [Institute of Cognitive Sciences and Technologies, CNR, Rome (Italy); Karolinska University Hospital, Department of Nuclear Medicine, Stockholm (Sweden); Salmaso, Dario [Institute of Cognitive Sciences and Technologies, CNR, Rome (Italy); Nardo, Davide [University of Rome La Sapienza, Department of Psychology, Rome (Italy); Jonsson, Cathrine; Larsson, Stig A. [Karolinska University Hospital, Department of Nuclear Medicine, Stockholm (Sweden); Jacobsson, Hans [Karolinska University Hospital, Department of Radiology, Stockholm (Sweden); Gardner, Ann [Karolinska University Hospital Huddinge, Karolinska Institutet, Department of Clinical Neuroscience, Section of Psychiatry, Stockholm (Sweden)

    2007-01-15

    Neurobiological abnormalities underlying atypical depression have previously been suggested. The purpose of this study was to explore differences at functional brain imaging between depressed patients with and without atypical features and healthy controls. Twenty-three out-patients with chronic depressive disorder recruited from a service for patients with audiological symptoms were investigated. Eleven fulfilled the DSM-IV criteria for atypical depression (mood reactivity and at least two of the following: weight gain, hypersomnia, leaden paralysis and interpersonal rejection sensitivity). Twenty-three healthy subjects served as controls. Voxel-based analysis was applied to explore differences in {sup 99m}Tc-HMPAO uptake between groups. Patients in the atypical group had a higher prevalence of bilateral hearing impairment and higher depression and somatic distress ratings at the time of SPECT. Significantly higher tracer uptake was found bilaterally in the atypical group as compared with the non-atypicals in the sensorimotor (Brodmann areas, BA1-3) and premotor cortex in the superior frontal gyri (BA6), in the middle frontal cortex (BA8), in the parietal associative cortex (BA5, BA7) and in the inferior parietal lobule (BA40). Significantly lower tracer distribution was found in the right hemisphere in the non-atypicals compared with the controls in BA6, BA8, BA44, BA45 and BA46 in the frontal cortex, in the orbito-frontal cortex (BA11, BA47), in the postcentral parietal cortex (BA2) and in the multimodal association parietal cortex (BA40). The differences found between atypical and non-atypical depressed patients suggest different neurobiological substrates in these patient groups. The putative links with the clinical features of atypical depression are discussed. These findings encourage the use of functional neuroimaging in psychiatric disorders. (orig.)

  20. Pathologic correlation to internal echogenicity of atypical breast fibroadenoma

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Nariya; Oh, Ki Keun; Kwon, Ryang; Han, Jae Ho; Jung, Woo Hee; Lee, Hy De [Yonsei Univ. College of Medicine, Seoul (Korea, Republic of)

    1998-07-01

    To understand the cause of a typical sonographic findings by analyzing their pathologic correlation to internal echogenicity of breast fibroadenoma. Materials and Methods : Between January 1995 and April 1997, the presence of 91 fibroadenomas in 81 patients was histopathologically proven. These mass lesions were sonographically interpreted and their descriptive criteria-internal echo content (both strength and homogeneity),the presence of septum, bilateral shadowing, and posterior echo pattern-were tabulated. A pathologist reviewed each case and independently recorded the following data : cell type, the presence of septum, duct dilatation,calcification, fibrosis, hyalinization, and vascularity. We analyzed the correlation of sonographic with pathologic findings. Results : There was significant correlation between increased vascularity and increased internal echo strength and between increased fibrosis and decreased internal echo strength. There was no significant correlation between internal echo homogeneity or posterior shadowing and vascularity or stromal fibrosis, nor between hyalinization or cell type and internal echo strength, homogeneity or posterior shadowing.There was correlation between absent or thin capsule and the absence of bilateral shadowing. Conclusion :Increased vascularity or decreased stromal fibrosis might be the cause of atypical fibroadenoma.

  1. Atypical Cogan's syndrome associated with coronary disease

    Institute of Scientific and Technical Information of China (English)

    Ivanovic Branislava; Tadic Marijana; Damjanov Nemanja; Simic Dragan; Zlatanovic Maja

    2011-01-01

    Cogan's syndrome (CS) is a rare inflammatory disorder characterized by interstitial keratitis and vestibuloauditory abnormalities often associated with various systemic manifestations. Involvement of cardiovascular system resembling systemic vasculitis may lead to severe complications and death. The present report describes a case of a female patient with atypical Cogan's syndrome presented with systemic manifestations and severe coronary and femoral artery stenosis.Despite the clinical improvement after glucocorticoids and cyclophosphamide, the patient required double aortocoronal bypass grafting one year letter. During three years follow-up, she was in stable condition, without stenocardial symptoms and claudication and her inflammatory parameters remain normal. This case highlights the rare involvement of coronary arteries without associated large-vessel vasculitis of the aortic arch in CS.

  2. Brugada Syndrome with atypical characteristics: Case report

    Directory of Open Access Journals (Sweden)

    Hatem Ari

    2013-09-01

    Full Text Available The Brugada Syndrome (BrS is a heterogeneous genetic disease characterized by persistent or transient ST-segment elevation in the right precordial electrocardiography (ECG leads and a high incidence of sudden death and life-threatening ventricular tachyarrhythmias in patients with structurally normal hearts. The syndrome generally manifests in men during adulthood. The ECG manifestations can be overt or concealed. We report a case of BrS whose type 1 ECG pattern during febrile state converted to type 2 ECG after alleviation of fever with atypical characteristics (78-year-old woman with monomorphic ventricular tachycardia on holter monitoring, a history of the sudden infant death of her child, and without inducible ventricular arrhythmia by programed ventricular stimulation [PVS].

  3. Pulmonary Atypical Adenomatous Hyperplasia And Bronchioloalveolar Carcinoma

    Institute of Scientific and Technical Information of China (English)

    MeilinXu; XiaYang; ZhiyaoZhang

    2004-01-01

    OBJECTIVE To study the relationship between atypical adenomatous hyperplasia (AAH) and bronchioloalveolar carcinoma (BAC). METHODS Morphometric, immunohistochemical and ultrastructural analyses were performed in 4 patients with low grade AAH, 5 with high grade AAH and 7 with BAC. RESULTS The mean nuclear areas of high grade AAH and BAC were greater than those of low grade AAH (P<0.05); p53 protein expression was negative in 4 cases of low grade AAH,while the positive rates in high grade AAH and BAC were 40% (2/5) and 57% (4/7), respectively. CONCLUSION The development of BAC is stepwise. AAH appears to be a lesion closely related with BAC, probably as its genuine precursor.

  4. Indications of atypical antipsychotics in the elderly.

    Science.gov (United States)

    McKean, Andrew; Monasterio, Erik

    2015-01-01

    Atypical antipsychotics (AAP) have become some of the most commonly prescribed medications in primary and specialist care settings. Off-label prescribing accounts for much of the expanded use of AAPs. This has become common in the elderly. Marketing by pharmaceutical companies appears to have contributed to the off-label use of AAPs, in situations where their safety and efficacy is far from established. Although evidence provides varying degrees of support for their use for behavioural and psychological symptoms of dementia, augmentation of antidepressants in depression, anxiety, insomnia and in the management of psychosis in Parkinson's Disease, there are a number of potential problems with their expanded use in the elderly. These include weight gain, type two diabetes mellitus, sudden cardiac death and increased mortality rates in the elderly with dementia. It is recommended that whenever AAPs are used off-label, a review date is identified, informed consent is obtained and treatment and side-effects are closely monitored.

  5. Atypical parakeratosis: a marker of dysplasia?

    Science.gov (United States)

    Voytek, T M; Kannan, V; Kline, T S

    1996-11-01

    The Bethesda System categorizes atypical parakeratosis (APK) as "ASCUS or SIL depending on the degree of cellular abnormalities." APK, however, is not well-defined. We retrospectively reviewed 68 cervicovaginal specimens with follow-up material to identify specific criteria and clinical significance of APK. APK cells were small cells, 2-3 times the diameter of neutrophil, with dense, orangeophilic cytoplasm, high nuclear cytoplasmic ratio, dense, often uneven chromatin, and irregular nuclear contour. Of 62 cases with APK, 37 had accompanying dysplastic cells. Of 25 cases with APK alone, follow-up revealed 12 with squamous intraepithelial lesion (5 HSIL and 7 LSIL) and 13 with benign changes. A major diagnostic pitfall of APK was inflammation with degeneration. Abundant APK cells, minimal inflammation and degeneration, and previous history of dysplasia frequently were associated with follow-up SIL. The findings of this study identify APK as an important marker for dysplasia that warrants careful evaluation and follow-up.

  6. Atypical Radiological Manifestation of Pulmonary Metastatic Calcification

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Eun Hae; Kim, Eun Sun; Kim, Chul Hwan; Ham, Soo Youn; Oh, Yu Whan [Korea University College of Medicine, Seoul (Korea, Republic of)

    2008-04-15

    Metastatic pulmonary calcification is a condition of calcium deposition in the normal pulmonary parenchyma, and this is secondary to abnormal calcium metabolism without any prior soft tissue damage. The predisposing factors for this condition include chronic renal failure, hypercalcemia and increased tissue alkalinity. The most common radiologic manifestation consists of poorly defined nodular opacities in the upper lung zone. These opacities reflect the deposition of calcium salts in the pulmonary interstitium. We present here a case of metastatic pulmonary calcification in a patient who recovered from pneumonia with sepsis and whose high-resolution CT (HRCT) images demonstrated localized parenchymal airspace calcification that was limited to the bilateral lower lobes. These lower lobes had been involved with pneumonic consolidation without calcification, as seen on the previous CT scan. In summary, we report here on an atypical presentation of metastatic pulmonary calcification that showed dense airspace consolidation localized to the bilateral lower lobes in a patient with primary hyperparathyroidism and pneumonia.

  7. Emphysematous Cystitis: Report of an Atypical Case

    Directory of Open Access Journals (Sweden)

    Karen De Baets

    2011-01-01

    Full Text Available We report the atypical case of a nondiabetic 66-year old male with severe abdominal pain and vomiting who was found to have emphysematous cystitis. Of all gas-forming infections of the urinary tract emphysematous cystitis is the most common and the least severe. The major risk factors are diabetes mellitus and urinary tract obstruction. Most frequent causative pathogens are Escherichia coli and Klebsiella pneumoniae. The clinical presentation is nonspecific and ranges from asymptomatic urinary tract infection to urosepsis and septic shock. The diagnosis is made by abdominal imaging. Treatment consists of broad-spectrum antibiotics, bladder drainage, and management of the risk factors. Surgery is reserved for severe cases. Overall mortality rate of emphysematous cystitis is 7%. Immediate diagnosis and treatment is necessary because of the rapid progression to bladder necrosis, emphysematous pyelonephritis, urosepsis, and possibly fatal evolution.

  8. Detection of atypical bile acids in disease states and their identification by gas chromatography-mass spectrometry-computer techniques

    Energy Technology Data Exchange (ETDEWEB)

    Szczepanik-Van Leeuwen, P. A.; Stellaard, F.

    1978-01-01

    The study of the bile acid constituents of serum, bile, urine, and stool of patients exhibiting liver disease has increased in importance with the availability of newer methods for their detection and identification. A cogent question for study has been whether specific bile acids are toxic and thus are the cause of liver disease, or whether they accumulate as a result of disease-induced alteration in metabolism. Examining a wide variety of clinical samples, we have observed that many patients with diagnosed cholestasis show the presence of atypical bile acids due to metabolic aberrations in either the side chain or in the steroid ring. Because cholestasis represents a spectrum of diseases with differing metabolic and/or anatomic defects and because our studies cover a variety of cholestatic states, we have sought to establish a correlation between the presence of these atypical bile acids and the disease state. The complexity of the bile acid mixtures to be examined requires that gas chromatographic-mass spectrometric-computer techniques be used to provide a reliable analysis. It is believed that atypical bile acids can be readily identified by GC/CI mass spectrometry with great sensitivity. It is also believed that such bile acid analysis may prove useful to the study and diagnosis of liver disease. Present data suggest that the identification of atypical bile acids in biological samples may enable differentiation between different types of intrahepatic cholestasis. Such analyses may prove useful to distinguish specific diseases, such as Byler's disease (and Byler's-like cholestasis) from other types of cholestasis and may distinguish diseases involving mitochondrial defects. Finally, the presence of atypical bile acids may indicate, by the particular compounds formed, where and what kind of damage occurs in a disease and may ultimately establish if these atypical bile acids are a cause or effect of the liver damage.

  9. Atypical velogenic Newcastle disease in a commercial layer flock in Japan.

    Science.gov (United States)

    Umali, Dennis V; Ito, Hiroshi; Shirota, Kazutoshi; Ito, Toshihiro; Katoh, Hiromitsu

    2015-05-01

    In 2002, a commercial layer flock in Japan was initially diagnosed as being infected with infectious bronchitis (IB) based on clinical signs, virus isolation, and serological analysis but was later found to be atypically infected with velogenic Newcastle disease virus (NDV) following molecular diagnosis. The flock had slightly decreased egg production and an increased occurrence of soft-shelled eggs without significant mortality. IB-like viruses were isolated, which caused dwarfing and curling in 12-day-old chicken embryos. Ten years after this case, retrospective genetic analyses showed that apart from IB virus (IBV), the flock was also infected with NDV. Mean death time (MDT), intracerebral pathogenicity index (ICPI), and deduced amino acid sequence of the cleavage site of the fusion (F)-protein gene revealed that the NDV isolate was velogenic ((112)RRQKR(116)). These results indicate that poultry clinicians should look out for atypical velogenic ND, especially in vaccinated commercial chicken flocks, which may harbor hidden NDV infection.

  10. Successful conservative treatment: multiple atypical fractures in osteoporotic patients after bisphosphate medication: a unique case report.

    Science.gov (United States)

    Kim, Hyo-Sang; Jung, Han Young; Kim, Myeong-Ok; Joa, Kyung-Lim; Kim, Yeo Ju; Kwon, Su-Yeon; Kim, Chang-Hwan

    2015-02-01

    Bisphosphonates have been commonly used for the treatment of osteoporosis. However, there have been recent case reports of atypical fractures citing their long-term use, which inhibits the turnover of bone components. A 64-year-old woman visited the outpatient clinic with pain in her right thigh and ambulation difficulty. We found fractures at both pedicles of L4 vertebra. subtrochanteric region of right femur, and left femoral shaft upon a radiologic examination. She had taken intravenous ibandronic sodium for osteoporosis over 3 years. We changed the bishophonates to a parathyroid hormone because it was suspected that the multiple fractures were caused by the medication. Further, rehabilitation, including progressive weight bearing, was started. After 3 months of the conservative treatment, she was able to walk independently. In conclusion, it is necessary to evaluate the possibility of atypical fractures in osteoporotic patients when they complain of lower extremity pain and to consider alternative treatments instead of bisphosphonates.

  11. Mild MPP(+) exposure impairs autophagic degradation through a novel lysosomal acidity-independent mechanism.

    Science.gov (United States)

    Miyara, Masatsugu; Kotake, Yaichiro; Tokunaga, Wataru; Sanoh, Seigo; Ohta, Shigeru

    2016-10-01

    Parkinson's disease (PD) is the second most common neurodegenerative disorder, but its underlying cause remains unknown. Although recent studies using PD-related neurotoxin MPP(+) suggest autophagy involvement in the pathogenesis of PD, the effect of MPP(+) on autophagic processes under mild exposure, which mimics the slow progressive nature of PD, remains largely unclear. We examined the effect of mild MPP(+) exposure (10 and 200 μM for 48 h), which induces a more slowly developing cell death, on autophagic processes and the mechanistic differences with acute MPP(+) toxicity (2.5 and 5 mM for 24 h). In SH-SY5Y cells, mild MPP(+) exposure predominantly inhibited autophagosome degradation, whereas acute MPP(+) exposure inhibited both autophagosome degradation and basal autophagy. Mild MPP(+) exposure reduced lysosomal hydrolase cathepsin D activity without changing lysosomal acidity, whereas acute exposure decreased lysosomal density. Lysosome biogenesis enhancers trehalose and rapamycin partially alleviated mild MPP(+) exposure induced impaired autophagosome degradation and cell death, but did not prevent the pathogenic response to acute MPP(+) exposure, suggesting irreversible lysosomal damage. We demonstrated impaired autophagic degradation by MPP(+) exposure and mechanistic differences between mild and acute MPP(+) toxicities. Mild MPP(+) toxicity impaired autophagosome degradation through novel lysosomal acidity-independent mechanisms. Sustained mild lysosomal damage may contribute to PD. We examined the effects of MPP(+) on autophagic processes under mild exposure, which mimics the slow progressive nature of Parkinson's disease, in SH-SY5Y cells. This study demonstrated impaired autophagic degradation through a reduction in lysosomal cathepsin D activity without altering lysosomal acidity by mild MPP(+) exposure. Mechanistic differences between acute and mild MPP(+) toxicity were also observed. Sustained mild damage of lysosome may be an underlying cause

  12. Low-Dose Atypical Antipsychotic Risperidone Improves the 5-Year Outcome in Alzheimer's Disease Patients with Sleep Disturbances.

    Science.gov (United States)

    Yin, You; Liu, Yan; Zhuang, Jianhua; Pan, Xiao; Li, Peng; Yang, Yuechang; Li, Yan-Peng; Zhao, Zheng-Qing; Huang, Liu-Qing; Zhao, Zhong-Xin

    2015-01-01

    Sleep disturbances (SD) accelerate the progression of Alzheimer's disease (AD) and increase the stress of caregivers. However, the long-term outcome of disturbed nocturnal sleep/wake patterns in AD and on increased stress of spousal caregivers is unclear. This study assessed the 5-year effect of nocturnal SD on the long-term outcome in AD patients. A total of 156 donepezil-treated mild-moderate AD patients (93 AD + SD and 63 AD - SD as a control group) were recruited. The AD + SD patients were formed into 4 subgroups according to the preferences of spousal caregivers for treatment with atypical antipsychotics (0.5-1 mg risperidone, n = 22), non-benzodiazepine hypnotic (5-10 mg zolpidem tartrate, n = 33), melatonin (2.55 mg, n = 9), or no-drug treatment (n = 29). SD were evaluated by polysomnography, sleep scale, and cognitive scale examinations. Moreover, all spousal caregivers of AD patients were assessed using a series of scales, including sleep, anxiety, mood, and treatment attitude scales. Our data showed that nocturnal sleep/wake disturbances were significantly associated with lower 5-year outcomes for AD patients, earlier nursing home placement, and more negative emotions of spousal caregivers. Treatment with low-dose atypical antipsychotic risperidone improved the 5-year outcome in AD + SD patients. In conclusion, low-dose atypical antipsychotic risperidone improves the 5-year outcome in AD patients with SD. Moreover, improvement of nocturnal sleep problems in AD patients will also bring better emotional stability for AD caregivers.

  13. Integrated genomic analyses of de novo pathways underlying atypical meningiomas

    Science.gov (United States)

    Harmancı, Akdes Serin; Youngblood, Mark W.; Clark, Victoria E.; Coşkun, Süleyman; Henegariu, Octavian; Duran, Daniel; Erson-Omay, E. Zeynep; Kaulen, Leon D.; Lee, Tong Ihn; Abraham, Brian J.; Simon, Matthias; Krischek, Boris; Timmer, Marco; Goldbrunner, Roland; Omay, S. Bülent; Baranoski, Jacob; Baran, Burçin; Carrión-Grant, Geneive; Bai, Hanwen; Mishra-Gorur, Ketu; Schramm, Johannes; Moliterno, Jennifer; Vortmeyer, Alexander O.; Bilgüvar, Kaya; Yasuno, Katsuhito; Young, Richard A.; Günel, Murat

    2017-01-01

    Meningiomas are mostly benign brain tumours, with a potential for becoming atypical or malignant. On the basis of comprehensive genomic, transcriptomic and epigenomic analyses, we compared benign meningiomas to atypical ones. Here, we show that the majority of primary (de novo) atypical meningiomas display loss of NF2, which co-occurs either with genomic instability or recurrent SMARCB1 mutations. These tumours harbour increased H3K27me3 signal and a hypermethylated phenotype, mainly occupying the polycomb repressive complex 2 (PRC2) binding sites in human embryonic stem cells, thereby phenocopying a more primitive cellular state. Consistent with this observation, atypical meningiomas exhibit upregulation of EZH2, the catalytic subunit of the PRC2 complex, as well as the E2F2 and FOXM1 transcriptional networks. Importantly, these primary atypical meningiomas do not harbour TERT promoter mutations, which have been reported in atypical tumours that progressed from benign ones. Our results establish the genomic landscape of primary atypical meningiomas and potential therapeutic targets. PMID:28195122

  14. Malignant atypical cell in urine cytology: a diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Kakkar Nandita

    2006-01-01

    Full Text Available Abstract Aims The aim of this study was to find out the characteristic morphology of malignant atypical cells which were missed on routine cytology of urine. Materials and methods In this retrospective study, we examined detailed cytomorphology of 18 cases of atypical urinary cytology which were missed on routine examination and were further proved on histopathology as transitional cell carcinoma (TCC of bladder. The cytological features of these cases were compared with 10 cases of benign urine samples. Results There were 11 cases of high grade TCC and 7 cases of low grade TCC on histopathology of the atypical urine samples. Necrosis in the background and necrosed papillae were mostly seen in malignant atypical cells. The comet cells and cells with India ink nuclei (single cells with deep black structure-less nuclei were only observed in malignant atypical cells. The most consistent features in malignant atypical cells were: i high nuclear and cytoplasmic (N/C ratio ii nuclear pleomorphism iii nuclear margin irregularity iv hyperchromasia and v chromatin abnormalities Conclusion The present study emphasizes that nuclear features such as high N/C ratio, hyperchromasia and chromatin abnormalities are particularly useful for assessing the malignant atypical cells. Other cytological features such as comet cells and cells with India ink nuclei are also helpful for diagnosis but have limited value because they are less frequently seen.

  15. Atypical antipsychotics in first admission schizophrenia: medication continuation and outcomes.

    Science.gov (United States)

    Mojtabai, Ramin; Lavelle, Janet; Gibson, P Joseph; Bromet, Evelyn J

    2003-01-01

    This study compares the effects of atypical and conventional antipsychotic medications on treatment continuation and outcomes in a first admission sample of patients with schizophrenia treated in usual practice settings. In a sample of 189 participants with a research diagnosis of DSM-IV schizophrenia drawn from the Suffolk County Mental Health Project, we compared the effects of atypical and conventional agents on change of medication, medication gaps, and rehospitalization. For these analyses we used the method of survival analysis for recurrent events, in which the episodes of treatment rather than individual subjects are the units of analysis. In addition, we compared improvement in positive and negative symptoms from intake to 24- or 48-month followups for subjects who stayed on one type of medication or changed to atypicals from conventional antipsychotics. Atypical agents were associated with lower risk of medication change, medication gaps, and rehospitalization. Both conventional and atypical agents were associated with improvement of positive symptoms at followup, but only subjects on atypical agents at followup experienced a significant improvement in negative symptoms. We conclude that in usual practice settings, as in randomized clinical trials, atypical agents are associated with improved treatment continuation and outcomes.

  16. Intraductal papillary mucinous carcinoma with atypical manifestations: Report of two cases

    Institute of Scientific and Technical Information of China (English)

    Seung Eun Lee; Jin-Young Jang; Sung Hoon Yang; Sun-Whe Kim

    2007-01-01

    Intraductal papillary mucinous neoplasms (IPMNs) are a well-characterized group of mucin-producing cystic neoplasms of the clear malignant potential type. We report here two cases of intraductal papillary mucinous carcinoma (IPMC) with atypical manifestations. In one case, we discussed a pseudomyxoma peritonei caused by a ruptured IPMC. In the other case we discussed the fistulization of IPMC into the stomach and duodenum. These two cases suggest that IPMN can either spontaneously rupture causing mucinous materials to spill into the free abdominal cavity or directly invade adjacent organs resulting in fistula development.

  17. EPS profiles: the atypical antipsychotics are not all the same.

    Science.gov (United States)

    Weiden, Peter J

    2007-01-01

    Within the first few years after chlorpromazine began to be used to treat psychosis, it was observed that it could cause many kinds of neurologic reactions that resembled those seen in idiopathic Parkinson's disease. These reactions were termed "extrapyramidal side effects" (EPS) because of their resemblance to the signs of Parkinson's disease, which were associated with degeneration of the dopamine nerve tracks located in the extrapyramidal region of the central nervous system. Eventually this association of dopamine loss, antipsychotics, and parkinsonism became a central part of the dopamine hypothesis of schizophrenia. Unfortunately, this association was also used to support the hypothesis that EPS were absolutely necessary for antipsychotic efficacy--hence the term "neuroleptic" rather than "antipsychotic." This theory, now discredited, was used to justify the practice of inducing EPS as a means to gauge whether an antipsychotic would be effective. The demonstration that clozapine, an antipsychotic virtually devoid of EPS, has better efficacy for psychosis than any other "neuroleptic" disproved the theory that EPS were fundamentally linked to efficacy. Because the idea of a relationship between EPS and efficacy was so ingrained in clinical practice, clozapine was called "atypical." Our understanding of the relationship between EPS and antipsychotic response has come full circle. With the introduction of clozapine and other newer antipsychotics, it has become clear that EPS are harmful and serve no beneficial purpose. The availability of newer antipsychotics with a lower EPS burden means that, at least in theory, it is now possible to treat psychosis without EPS in the vast majority of patients. In practice, however, EPS remain a significant problem even in the era of atypical or second generation antipsychotics (SGAs). One limitation is that the concept of "atypicality," when used to denote antipsychotic efficacy without EPS, is a relative not an absolute

  18. Results of surgical treatment of atypical endometrial hyperplasia

    Directory of Open Access Journals (Sweden)

    O. A. Gornykh

    2014-01-01

    Full Text Available The results of surgical treatment in 132 patients with atypical endometrial hyperplasia have been studied. Post-operative diagnosis was: en- dometrial cancer – in 19 %, atypical hyperplasia – in 35 %, simple and complex hyperplasia – in 33 %, only atrophic endometrial changes – in 13 % of patients. The tumor was within the endometrium in 5 patients, the superficial invasion of the myometrium (1–2 mm were in 8 patients, invasion to half of the myometrium – in 9 patients, invasion of more than half of the myometrium – in 3 patients. The questions of tactics of treatment of atypical endometrial hyperplasia is under discussion.

  19. Implant failure caused by non-union of bisphosphonate-associated subtrochanteric femur fracture

    OpenAIRE

    2014-01-01

    Bisphosphonate use has been identified as a contributory factor in atypical subtrochanteric fracture of the femur. These fractures are commonly treated with an intramedullary device. We present a case of implant failure of an intrameduallary device caused by non-union of an atypical subtrochanteric fracture.

  20. Implant failure caused by non-union of bisphosphonate-associated subtrochanteric femur fracture.

    LENUS (Irish Health Repository)

    O'Neill, Barry James

    2014-04-03

    Bisphosphonate use has been identified as a contributory factor in atypical subtrochanteric fracture of the femur. These fractures are commonly treated with an intramedullary device. We present a case of implant failure of an intrameduallary device caused by non-union of an atypical subtrochanteric fracture.

  1. Assesment, treatment and prevention of atypical hemolytic uremic syndrome

    Directory of Open Access Journals (Sweden)

    Azar Nickavar

    2013-01-01

    Full Text Available Hemolytic uremic syndrome (HUS is a heterogeneous group of hemolytic disorders. Different terminologies have been described in HUS, which are as follows: (1 D+ HUS: Presentation with a preceding diarrhea; (2 typical HUS: D+ HUS with a single and self-limited episode; (3 atypical HUS (aHUS: Indicated those with complement dysregulation; (4 recurrent HUS: Recurrent episodes of thrombocytopenia and/or microangiopathic hemolytic anemia (MAHA after improvement of hematologic abnormalities; and (5 familial HUS: Necessary to distinct synchronous outbreaks of D+ HUS in family members and asynchronous disease with an inherited risk factor. aHUS is one of the potential causes of end-stage renal disease (ESRD in children. It has a high recurrence after renal transplantation in some genetic forms. Therefore, recognition of the responsible mechanism and proper prophylactic treatment are recommended to prevent or delay the occurrence of ESRD and prolong the length of survival of the transplanted kidney. A computerized search of MEDLINE and other databases was carried out to find the latest results in pathogenesis, treatment, and prevention of aHUS.

  2. RNA-Binding Proteins in Trichomonas vaginalis: Atypical Multifunctional Proteins

    Directory of Open Access Journals (Sweden)

    Elisa E. Figueroa-Angulo

    2015-11-01

    Full Text Available Iron homeostasis is highly regulated in vertebrates through a regulatory system mediated by RNA-protein interactions between the iron regulatory proteins (IRPs that interact with an iron responsive element (IRE located in certain mRNAs, dubbed the IRE-IRP regulatory system. Trichomonas vaginalis, the causal agent of trichomoniasis, presents high iron dependency to regulate its growth, metabolism, and virulence properties. Although T. vaginalis lacks IRPs or proteins with aconitase activity, possesses gene expression mechanisms of iron regulation at the transcriptional and posttranscriptional levels. However, only one gene with iron regulation at the transcriptional level has been described. Recently, our research group described an iron posttranscriptional regulatory mechanism in the T. vaginalis tvcp4 and tvcp12 cysteine proteinase mRNAs. The tvcp4 and tvcp12 mRNAs have a stem-loop structure in the 5'-coding region or in the 3'-UTR, respectively that interacts with T. vaginalis multifunctional proteins HSP70, α-Actinin, and Actin under iron starvation condition, causing translation inhibition or mRNA stabilization similar to the previously characterized IRE-IRP system in eukaryotes. Herein, we summarize recent progress and shed some light on atypical RNA-binding proteins that may participate in the iron posttranscriptional regulation in T. vaginalis.

  3. RNA-Binding Proteins in Trichomonas vaginalis: Atypical Multifunctional Proteins.

    Science.gov (United States)

    Figueroa-Angulo, Elisa E; Calla-Choque, Jaeson S; Mancilla-Olea, Maria Inocente; Arroyo, Rossana

    2015-11-26

    Iron homeostasis is highly regulated in vertebrates through a regulatory system mediated by RNA-protein interactions between the iron regulatory proteins (IRPs) that interact with an iron responsive element (IRE) located in certain mRNAs, dubbed the IRE-IRP regulatory system. Trichomonas vaginalis, the causal agent of trichomoniasis, presents high iron dependency to regulate its growth, metabolism, and virulence properties. Although T. vaginalis lacks IRPs or proteins with aconitase activity, possesses gene expression mechanisms of iron regulation at the transcriptional and posttranscriptional levels. However, only one gene with iron regulation at the transcriptional level has been described. Recently, our research group described an iron posttranscriptional regulatory mechanism in the T. vaginalis tvcp4 and tvcp12 cysteine proteinase mRNAs. The tvcp4 and tvcp12 mRNAs have a stem-loop structure in the 5'-coding region or in the 3'-UTR, respectively that interacts with T. vaginalis multifunctional proteins HSP70, α-Actinin, and Actin under iron starvation condition, causing translation inhibition or mRNA stabilization similar to the previously characterized IRE-IRP system in eukaryotes. Herein, we summarize recent progress and shed some light on atypical RNA-binding proteins that may participate in the iron posttranscriptional regulation in T. vaginalis.

  4. Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Sharma Subodh

    2010-05-01

    Full Text Available Abstract Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome. Case presentation A 10-year-old East Asian boy presented with abdominal distension of five years' duration and complained of shortness of breath on and off for the same period. On examination his head was large and his head circumference was 54.5 cm. His neck was short, he had coarse facial features, a depressed nasal bridge and small stubby fingers with flexion of distal interphalangeal joints, and a low arched palate was observed. There was mild mental retardation. Conclusion Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis. Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers.

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

    Institute of Scientific and Technical Information of China (English)

    Hadi; AR; Hadi; Khafaji; Jassim; M; Al; Suwaidi

    2014-01-01

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

  6. Postpartum atypical haemolytic uraemic syndrome in a pre-eclamptic patient

    Directory of Open Access Journals (Sweden)

    Efterpi Tingi

    2016-03-01

    Full Text Available Postpartum atypical haemolytic uraemic syndrome (aHUS is a rare manifestation, defined as non-immune haemolytic anaemia, thrombocytopenia, and renal thrombotic microangiopathy (TMA typically following a normal vaginal delivery. Most cases of aHUS are caused by uncontrolled chronic activation of alternative complement pathway, resulting in microvascular thrombosis, organ ischaemia and damage. aHUS has a poor prognosis, hence up to 65 percent of patients require haemodialysis or have kidney damage or die. We report a case of postpartum atypical haemolytic uraemic syndrome in a 30 year old multiparous woman, who presented with orthopnoea, chest and abdominal pain, seven days following emergency caesarean section due to severe preeclampsia. Clinical examination and several investigations revealed anaemia, thrombocytopenia and renal failure, findings suggestive of thrombotic microangiopathy, therefore she was admitted in ITU where total plasma exchanged was initiated. The patient improved 10 days post ITU admission and discharged home. This case highlights that the TMAs may be indistinguishable clinically from each other, making a formal diagnosis difficult. Atypical HUS should be suspected during the postpartum period in any woman who presents with haeomolytic anaemia, thrombocytopenia and severe renal impairment. Aggressive treatment with plasma exchange may limit vascular injury and improve prognosis. [Int J Reprod Contracept Obstet Gynecol 2016; 5(3.000: 894-898

  7. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

    Science.gov (United States)

    Felgentreff, Kerstin; Perez-Becker, Ruy; Speckmann, Carsten; Schwarz, Klaus; Kalwak, Krzysztof; Markelj, Gasper; Avcin, Tadej; Qasim, Waseem; Davies, E G; Niehues, Tim; Ehl, Stephan

    2011-10-01

    Hypomorphic mutations in genes associated with severe combined immunodeficiency (SCID) or Omenn syndrome can also cause milder immunodeficiencies. We report 10 new patients with such "atypical" SCID and summarize 63 patients from the literature. The patient groups with T(low)B(low) (n=28), T(low)B(+) (n=16) and ADA (n=29) SCID variants had similar infection profiles but differed in the frequency of immune dysregulation, which was observed predominantly in patients with recombination defects. Most immunological parameters were remarkably similar in the three groups. Of note, 19/68 patients with "atypical" SCID had normal T cell counts, 48/68 had normal IgG and 23/46 had at least one normal specific antibody titer. Elevated IgE was a characteristic feature of ADA deficiency. This overview characterizes "atypical" SCID as a distinct disease with immune dysregulation in addition to infection susceptibility. Lymphopenia, reduced naïve T cells and elevated IgE are suggestive, but not consistent features of the disease.

  8. Understanding mild persistent asthma in children

    DEFF Research Database (Denmark)

    Bisgaard, Hans; Szefler, Stanley J

    2005-01-01

    Limitations in asthma prevalence studies and difficulties in diagnosing pediatric asthma lead to uncertainty over the full extent of mild persistent asthma in children and adolescents. Although recent surveys have reported that the majority of pediatric patients with asthma in the United States...... and Europe have symptoms consistent with mild disease, these surveys have limitations in design. Thus, the true prevalence of mild asthma remains unknown. It is unclear whether children with mild persistent asthma progress to more severe asthma, but the risk of severe asthma exacerbations seems...... to be unrelated to the symptom severity. Clinical studies restricted to pediatric patients with mild asthma are limited, but available data do suggest substantial morbidity of mild persistent asthma in this population and support inhaled corticosteroid intervention. There is a need for further investigation...

  9. A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.

    Science.gov (United States)

    Mou, Wenjun; He, Jianxin; Chen, Xi; Zhang, Hui; Ren, Xiaoya; Wu, Xunyao; Ni, Xin; Xu, Baoping; Gui, Jingang

    2017-01-01

    Severe combined immunodeficiency (SCID) is the most serious disorder among primary immunodeficiency diseases threatening children's life. Atypical SCID variant, presenting with mild reduced T cells subsets, is often associated with infection susceptibility but poor clinical diagnosis. The atypical X-SCID patient in the present study showed a mild clinical presentation with a T(low)NK(+)B(+) immunophenotype. The patient has reduced T- cell subpopulations with a subdued thymic output measured by sjTRECs. Further analysis showed that T cells maintained a normal proliferation and a broad Vβ repertoire. NK cells, however, exhibited a skewed development toward immature CD3(-)CD16(+)CD56(-) cells. Genetic analysis revealed a novel deletion at nucleotide 52 in exon 1 of IL2RG gene. Sequence alignment predicted a truncated IL2RG protein missing signal peptide derived from a possible alternative reading frame. The novel mutation in IL2RG gene identified in our study may help the early diagnosis of atypical X-SCID.

  10. Teaching strategies for atypical presentation of illness in older adults.

    Science.gov (United States)

    Gray-Miceli, Deanna; Aselage, Melissa; Mezey, Mathy

    2010-07-01

    Atypical presentation of illness is a phenomenon where "seeing is believing." Expert geriatric nurses and clinicians know all too well the early signs and symptoms of this phenomenon, which frequently masquerades bacterial infections, pain, acute myocardial infarction, heart failure, or other serious medical ailments in older adults. Students, however, as novices to clinical practice, require interactive learning approaches to reflect on the patient's illness presentations, help with developing the necessary skills to analyze and synthesize clinically relevant data, and witness resolution of an atypical presentation when found and treated. Use of a case study as an educational tool can facilitate critical thinking about a clinical problem, such as atypical presentation of illness, for students within a problem-based learning format. Furthermore, we highlight strategies for teaching students atypical presentation of illness with consideration of student learning preferences, which include visual, auditory, reading, and kinesthetic modes of learning.

  11. Atypical presentation of mucopolysaccharidosis type IVA.

    Science.gov (United States)

    Rush, Eric T

    2016-09-01

    A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age. Targeted molecular and biochemical testing were normal in this patient. Whole exome sequencing was performed and showed compound heterozygosity for previously reported pathogenic GALNS variants which were diagnostic of mucopolysaccharidosis, type IVA (Morquio A). While this case describes neither a novel condition nor a new mutation, it does illustrate three important points in the diagnosis of patients with atypical forms of MPS IVA. First, that in many instances urine glycosaminoglycan analysis is not sufficient to rule out MPS IVA as a potential diagnosis. Patients in whom biochemical screening is advised should have measurement of leukocyte enzymatic activity. Second, that in patients with radiographic evidence of spondyloepiphyseal dysplasia with additional features or with normal targeted testing, MPS IVA should remain in the differential diagnosis. Third, that whole exome sequencing represents a viable diagnostic platform for evaluation of patients with unknown skeletal or metabolic disease.

  12. Atypical clinical response patterns to ipilimumab.

    Science.gov (United States)

    Ledezma, Blanca; Binder, Sandra; Hamid, Omid

    2011-08-01

    Patients with advanced melanoma have few treatment options, and survival is poor. However, improved understanding of how the immune system interacts with cancer has led to the development of novel therapies. Ipilimumab is a monoclonal antibody that inhibits cytotoxic T-lymphocyte antigen-4 (CTLA-4), a key negative regulator of host T-cell responses. This article presents cases of patients receiving ipilimumab in clinical trials along with a discussion of their significance and relevance to nursing practice. The patients showed different response patterns to ipilimumab and also had various typical immune-related adverse events (irAEs), which were managed successfully. The atypical response patterns produced by ipilimumab likely reflect its mechanism of action, which requires time for the immune system to mount an effective antitumor response. Meanwhile, lesions may appear to enlarge as a consequence of enhanced T-cell infiltration, although this may not necessarily be true disease progression. Patients receiving ipilimumab may respond very differently compared to how they might react to chemotherapy. Responses can take weeks or months to develop; therefore, clinicians should not terminate treatment prematurely, providing the patient's condition allows for continuation. Early recognition of irAEs combined with prompt management will ensure that events are more likely to resolve without serious consequences.

  13. Atypical Takotsubo syndrome during anagrelide therapy.

    Science.gov (United States)

    Proietti, Riccardo; Rognoni, Andrea; Ardizzone, Fabio; Maccio, Sergio; Santagostino, Alberto; Rognoni, Giorgio

    2009-07-01

    Anagrelide is a phosphodiesterase III inhibitor utilized in the treatment of essential thrombocythemia. Anagrelide can be responsible for positive inotropic and chonotropic activity of the cardiovascular system. Moreover, it can induce vasospam directly on the epicardial coronary arteries. In the literature, it is well reported that this inhibitor can determine serious cardiovascular side effects, including congestive heart failure, arrhythmia and acute coronary syndrome. We describe the case of a 75-year-old woman who developed a mid-ventricular Takotsubo syndrome while on anagrelide therapy. Takotsubo cardiomyopathy, also known as left ventricular ballooning syndrome, is characterized by a reversible ventricular contractile dysfunction with akinesis and expansion of apical segments and hyperkinesis of the basal segments. Recently, atypical cases with akinesia and dilation of mid-ventricular segment and hypercontraction of the apical segments, also called mid-ventricular and inverted Takotsubo syndrome, have been described. Even though the pathogenesis of Takotsubo syndrome is poorly understood, several mechanisms have been proposed, including catecholamine-induced myocardial stunning, and ischemia-mediated stunning due to multivessel epicardial or microvascular spasm. We think that in our case, the adverse response of anagrelide therapy was determined, by accumulated dosage of the drug, through an intensive inotropic stimulation and a sympathetic hyperactivation in a vulnerable myocardium. To our knowledge, this is one of the first reports of an association between anagrelide therapy and Takotsubo cardiomyopathy.

  14. Atypical moral judgment following traumatic brain injury

    Directory of Open Access Journals (Sweden)

    Angelica Muresan

    2012-07-01

    Full Text Available Previous research has shown an association between emotions, particularly social emotions, and moral judgments. Some studies suggested an association between blunted emotion and the utilitarian moral judgments observed in patients with prefrontal lesions. In order to investigate how prefrontal brain damage affects moral judgment, we asked a sample of 29 TBI patients (12 females and 17 males and 41 healthy participants (16 females and 25 males to judge 22 hypothetical dilemmas split into three different categories (non-moral, impersonal and personal moral. The TBI group presented a higher proportion of affirmative (utilitarian responses for personal moral dilemmas when compared to controls, suggesting an atypical pattern of utilitarian judgements. We also found a negative association between the performance on recognition of social emotions and the proportion of affirmative responses on personal moral dilemmas. These results suggested that the preference for utilitarian responses in this type of dilemmas is accompanied by difficulties in social emotion recognition. Overall, our findings suggest that deontological moral judgments are associated with normal social emotion processing and that frontal lobe plays an important role in both emotion and moral judgment.

  15. Nocturnal manifestations of atypical parkinsonian disorders.

    Science.gov (United States)

    Bhidayasiri, Roongroj; Jitkritsadakul, Onanong; Colosimo, Carlo

    2014-01-01

    Although nocturnal disturbances are increasingly recognized as an integral part of the continuum of daytime manifestations of Parkinson's disease (PD), there is still little evidence in the medical literature to support the occurrence of these complex phenomena in patients with atypical parkinsonian disorders (APDs). Based on the anatomical substrates in APDs, which are considered to be more extensive outside the basal ganglia than in PD, we might expect that patients with APDs encounter the whole range of nocturnal disturbances, including motor, sleep disorders, autonomic dysfunctions, and neuropsychiatric manifestations at a similar, or even greater, frequency than in PD. This article is a review of the current literature on the problems at nighttime of patients with progressive supranuclear palsy, multiple system atrophy, corticobasal degeneration, and dementia with Lewy bodies. MEDLINE, life science journals and online books were searched by querying appropriate key words. Reports were included if the studies were related to nocturnal manifestations in APDs. Forty articles fulfilled the selection criteria. Differences between these symptoms in APDs and PD are highlighted, given the evidence available about each manifestation. This analysis of nocturnal manifestations of APDs suggests the need for future studies to address these issues to improve the quality of life not only of patients with APDs but the caregivers who encounter the challenges of supporting these patients on a daily basis.

  16. Persistent consequences of atypical early number concepts

    Directory of Open Access Journals (Sweden)

    Michèle M. M. Mazzocco

    2013-09-01

    Full Text Available How does symbolic number knowledge performance help identify young children at risk for poor mathematics achievement outcomes? In research and practice, classification of mathematics learning disability (MLD, or dyscalculia is typically based on composite scores from broad measures of mathematics achievement. These scores do predict later math achievement levels, but do not specify the nature of math difficulties likely to emerge among students at greatest risk for long-term mathematics failure. Here we report that gaps in 2nd and 3rd graders’ number knowledge predict specific types of errors made on math assessments at Grade 8. Specifically, we show that early whole number misconceptions predict slower and less accurate performance, and atypical computational errors, on Grade 8 arithmetic tests. We demonstrate that basic number misconceptions can be detected by idiosyncratic responses to number knowledge items, and that when such misconceptions are evident during primary school they persist throughout the school age years, with variable manifestation throughout development. We conclude that including specific qualitative assessments of symbolic number knowledge in primary school may provide greater specificity of the types of difficulties likely to emerge among students at risk for poor mathematics outcomes.

  17. Atypical mitochondrial inheritance patterns in eukaryotes.

    Science.gov (United States)

    Breton, Sophie; Stewart, Donald T

    2015-10-01

    Mitochondrial DNA (mtDNA) is predominantly maternally inherited in eukaryotes. Diverse molecular mechanisms underlying the phenomenon of strict maternal inheritance (SMI) of mtDNA have been described, but the evolutionary forces responsible for its predominance in eukaryotes remain to be elucidated. Exceptions to SMI have been reported in diverse eukaryotic taxa, leading to the prediction that several distinct molecular mechanisms controlling mtDNA transmission are present among the eukaryotes. We propose that these mechanisms will be better understood by studying the deviations from the predominating pattern of SMI. This minireview summarizes studies on eukaryote species with unusual or rare mitochondrial inheritance patterns, i.e., other than the predominant SMI pattern, such as maternal inheritance of stable heteroplasmy, paternal leakage of mtDNA, biparental and strictly paternal inheritance, and doubly uniparental inheritance of mtDNA. The potential genes and mechanisms involved in controlling mitochondrial inheritance in these organisms are discussed. The linkage between mitochondrial inheritance and sex determination is also discussed, given that the atypical systems of mtDNA inheritance examined in this minireview are frequently found in organisms with uncommon sexual systems such as gynodioecy, monoecy, or andromonoecy. The potential of deviations from SMI for facilitating a better understanding of a number of fundamental questions in biology, such as the evolution of mtDNA inheritance, the coevolution of nuclear and mitochondrial genomes, and, perhaps, the role of mitochondria in sex determination, is considerable.

  18. Atypical presentation of macrophagic myofasciitis 10 years post vaccination.

    Science.gov (United States)

    Ryan, Aisling M; Bermingham, Niamh; Harrington, Hugh J; Keohane, Catherine

    2006-12-01

    Macrophagic myofasciitis (MMF) is an uncommon inflammatory disorder of muscle believed to be due to persistence of vaccine-derived aluminium hydroxide at the site of injection. The condition is characterised by diffuse myalgias, arthralgia and fatigue. We describe a patient with histologically confirmed MMF whose presentation was atypical with left chest and upper limb pain beginning more than 10 years post vaccination. Treatment with steroids led to symptomatic improvement. Although rare, clinicians should consider MMF in cases of atypical myalgia.

  19. Atypical presentations among Medicare beneficiaries with unstable angina pectoris.

    Science.gov (United States)

    Canto, John G; Fincher, Contessa; Kiefe, Catarina I; Allison, Jeroan J; Li, Qing; Funkhouser, Ellen; Centor, Robert M; Selker, Harry P; Weissman, Norman W

    2002-08-01

    Chest pain is a hallmark symptom in patients with unstable angina pectoris (UAP). However, little is known regarding the prevalence of an atypical presentation among these patients and its relation to subsequent care. We examined the medical records of 4,167 randomly sampled Medicare patients hospitalized with unstable angina at 22 Alabama hospitals between 1993 and 1999. We defined typical presentation as (1) chest pain located substernally in the left or right chest, or (2) chest pain characterized as squeezing, tightness, aching, crushing, arm discomfort, dullness, fullness, heaviness, pressure, or pain aggravated by exercise or relieved with rest or nitroglycerin. Atypical presentation was defined as confirmed UAP without typical presentation. Among patients with confirmed UAP, 51.7% had atypical presentations. The most frequent symptoms associated with atypical presentation were dyspnea (69.4%), nausea (37.7%), diaphoresis (25.2%), syncope (10.6%), or pain in the arms (11.5%), epigastrium (8.1%), shoulder (7.4%), or neck (5.9%). Independent predictors of atypical presentation for patients with UAP were older age (odds ratio 1.09, 95% confidence interval 1.01 to 1.17/decade), history of dementia (odds ratio 1.49, 95% confidence interval 1.10 to 2.03), and absence of prior myocardial infarction, hypercholesterolemia, or family history of heart disease. Patients with atypical presentation received aspirin, heparin, and beta-blocker therapy less aggressively, but there was no difference in mortality. Thus, over half of Medicare patients with confirmed UAP had "atypical" presentations. National educational initiatives may need to redefine the classic presentation of UAP to include atypical presentations to ensure appropriate quality of care.

  20. Atypical meningococcal meningitis with rashless presentation:A case report

    Institute of Scientific and Technical Information of China (English)

    Sunita; Singh Manpreet; Kapoor Dheeraj

    2012-01-01

    Meningococcal disease is the major health problem in developing world. The clinical presentation is varied, ranging from transient fever and bacteraemia to fulminant disease with death ensuing within hours of the onset of clinical symptoms. The classical clinical manifestations of meningococcal disease have been well described, but atypical presentations if unrecognized, may lead to a delay in treatment and fatal outcome. We here report a case presented with atypical presentation of meningococcal meningitis without classical rash, which was diagnosed and managed successfully.

  1. Atypical presentation of macrophagic myofasciitis 10 years post vaccination.

    LENUS (Irish Health Repository)

    Ryan, Aisling M

    2012-02-03

    Macrophagic myofasciitis (MMF) is an uncommon inflammatory disorder of muscle believed to be due to persistence of vaccine-derived aluminium hydroxide at the site of injection. The condition is characterised by diffuse myalgias, arthralgia and fatigue. We describe a patient with histologically confirmed MMF whose presentation was atypical with left chest and upper limb pain beginning more than 10 years post vaccination. Treatment with steroids led to symptomatic improvement. Although rare, clinicians should consider MMF in cases of atypical myalgia.

  2. An Atypical Case of Pityriasis Rosea Gigantea after Influenza Vaccination

    Directory of Open Access Journals (Sweden)

    Dimitrios Papakostas

    2014-04-01

    Full Text Available Pityriasis rosea is a common erythematosquamous eruption, typically presenting along the cleavage lines of the skin. A wide spectrum of atypical manifestations may challenge even the most experienced physician. Here we report a rare case of a suberythrodermic pityriasis rosea with gigantic plaques after an influenza vaccination, and we discuss the possible triggers of atypical manifestations of such a common dermatological disease in the setting of an altered immunity.

  3. Concussion and Mild Traumatic Brain Injury: An Annotated Bibliography

    Science.gov (United States)

    2013-08-01

    induced mTBI has increased in recent years. Intracranial pressure monitoring is not always available in clinical care settings, and protocols need to... intracranial pressure , shear stress concentration, and relative motion between the brain and skull do indeed cause surface contusion, concussion, diffuse axonal injury, as well as acute subdural hematoma. ...civilian hospital for mild head injury. Follow-up 1-month post-injury, allowed for PCS evaluation. The analyses (odds ratios) suggest that elevated

  4. Mild ciguatera poisoning: Case reports with neurophysiological evaluations.

    Science.gov (United States)

    Butera, R; Prockop, L D; Buonocore, M; Locatelli, C; Gandini, C; Manzo, L

    2000-10-01

    Ciguatera poisoning causes mainly gastrointestinal and neurological effects of variable severity. However, symptoms of peripheral neuropathy with paresthesias and paradoxical disturbance of thermal sensation are the hallmark. Electrophysiological studies are often normal, except in severe cases. We report four people who developed mild ciguatera poisoning after barracuda ingestion. Electrophysiological studies documented normocalcemic latent tetany. These findings are consistent with ciguatoxin's mechanism of toxicity, which involves inactivation of voltage-gated Na(+) channels and eventually increases nerve membrane excitability.

  5. Neuroleptic malignant syndrome associated with atypical antipsychotic drugs.

    Science.gov (United States)

    Trollor, Julian N; Chen, Xiaohua; Sachdev, Perminder S

    2009-01-01

    Neuroleptic malignant syndrome (NMS) is a rare but potentially severe idiosyncratic adverse reaction usually seen in the context of treatment with antipsychotic drugs. Although NMS is historically associated with the classic or 'typical' antipsychotic drugs, it is also a potential adverse effect of atypical antipsychotic drugs. The widespread use of atypical antipsychotic drugs highlights the need to examine the data relating to the symptomatology, diagnosis, classification and management of NMS with these newer agents. We used MEDLINE and EMBASE to identify NMS case reports and systematic reviews published to June 2008 related to the atypical antipsychotic drugs clozapine, olanzapine, risperidone, paliperidone, aripiprazole, ziprasidone, amisulpride and quetiapine. Case reports and reviews were systematically examined. Our review suggests that, in general, NMS associated with atypical antipsychotic drugs manifests in a typical manner. One notable exception is clozapine-induced NMS, which appears less likely to manifest with extrapyramidal features, including rigidity and tremor. The available literature highlights the divergence of opinion relating to the core diagnostic features of NMS and its conceptualization as a categorical versus dimensional disorder. Both these issues have relevance for the identification of atypical or milder forms of NMS, which are sometimes seen with atypical antipsychotic drugs.

  6. First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.

    Science.gov (United States)

    Motegi, Sei-ichiro; Yokoyama, Yoko; Uchiyama, Akihiko; Ogino, Sachiko; Takeuchi, Yuko; Yamada, Kazuya; Hattori, Tomoyasu; Hashizume, Hiroaki; Ishikawa, Yuichi; Goto, Makoto; Ishikawa, Osamu

    2014-12-01

    Atypical progeroid syndrome (APS), including atypical Werner syndrome (AWS), is a progeroid syndrome involving heterozygous mutations in the LMNA gene encoding the nuclear protein lamin A/C. We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). A 53-year-old Japanese man had a history of recurrent severe cardiovascular diseases as well as brain infarction and hemorrhages. Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent. In immunofluorescence staining and electron microscopic analyses of the patient's cultured fibroblasts, abnormal nuclear morphology, an increase in small aggregation of heterochromatin and a decrease in interchromatin granules in nuclei of fibroblasts were observed, suggesting that abnormal nuclear morphology and chromatin disorganization may be associated with the pathogenesis of APS/AWS.

  7. [Takotsubo and surroundings. Step by step postpartum stress-induced cardiomyopathy shows its facet. A peculiar case of atypical takotasubo in the peripartum period].

    Science.gov (United States)

    Russo, Marco; Sappa, Roberta; Gianfagna, Enrico; Salame, Kareem; Sinagra, Gianfranco; Proclemer, Alessandro

    2014-01-01

    Takotsubo syndrome is an acquired cardiomyopathy with transient and reversible left ventricular dysfunction that can mimic an acute coronary syndrome. It is characterized by ECG abnormalities, including minimal ST-segment elevation and T-wave changes, mild troponin elevation, typical left ventricular regional wall motion abnormalities (apical ballooning) and atypical forms (midventricular or reverse apical ballooning) without significant coronary artery stenosis. Its etiology and pathophysiology remain unclear. The sympathetic system seems to play a central role: its exaggerated response to emotional or physical stress triggers may induce microvascular dysfunction and catecholamine-induced cardiotoxicity due to cyclic AMP-mediated calcium overload. We report our experience highlighting the possible pathophysiological and clinical overlap of emotional-triggered catecholamine cardiotoxicity, arterial hypertension and physiological cardiovascular overload in pregnancy describing an atypical case of takotsubo cardiomyopathy with diffuse left ventricular hypokinesia at onset and subsequent evolution to apical ballooning.

  8. Atypical/Nor98 scrapie infectivity in sheep peripheral tissues.

    Directory of Open Access Journals (Sweden)

    Olivier Andréoletti

    Full Text Available Atypical/Nor98 scrapie was first identified in 1998 in Norway. It is now considered as a worldwide disease of small ruminants and currently represents a significant part of the detected transmissible spongiform encephalopathies (TSE cases in Europe. Atypical/Nor98 scrapie cases were reported in ARR/ARR sheep, which are highly resistant to BSE and other small ruminants TSE agents. The biology and pathogenesis of the Atypical/Nor98 scrapie agent in its natural host is still poorly understood. However, based on the absence of detectable abnormal PrP in peripheral tissues of affected individuals, human and animal exposure risk to this specific TSE agent has been considered low. In this study we demonstrate that infectivity can accumulate, even if no abnormal PrP is detectable, in lymphoid tissues, nerves, and muscles from natural and/or experimental Atypical/Nor98 scrapie cases. Evidence is provided that, in comparison to other TSE agents, samples containing Atypical/Nor98 scrapie infectivity could remain PrP(Sc negative. This feature will impact detection of Atypical/Nor98 scrapie cases in the field, and highlights the need to review current evaluations of the disease prevalence and potential transmissibility. Finally, an estimate is made of the infectivity loads accumulating in peripheral tissues in both Atypical/Nor98 and classical scrapie cases that currently enter the food chain. The results obtained indicate that dietary exposure risk to small ruminants TSE agents may be higher than commonly believed.

  9. Childhood Learning Disabilities and Atypical Dementia: A Retrospective Chart Review.

    Directory of Open Access Journals (Sweden)

    Alon Seifan

    Full Text Available To further our understanding of the association between self-reported childhood learning disabilities (LDs and atypical dementia phenotypes (Atypical Dementia, including logopenic primary progressive aphasia (L-PPA, Posterior Cortical Atrophy (PCA, and Dysexecutive-type Alzheimer's Disease (AD.This retrospective case series analysis of 678 comprehensive neuropsychological assessments compared rates of self-reported LD between dementia patients diagnosed with Typical AD and those diagnosed with Atypical Dementia. 105 cases with neuroimaging or CSF data available and at least one neurology follow-up were identified as having been diagnosed by the neuropsychologist with any form of neurodegenerative dementia. These cases were subject to a consensus diagnostic process among three dementia experts using validated clinical criteria for AD and PPA. LD was considered Probable if two or more statements consistent with prior LD were documented within the Social & Developmental History of the initial neuropsychological evaluation.85 subjects (Typical AD n=68, Atypical AD n=17 were included in the final analysis. In logistic regression models adjusted for age, gender, handedness, education and symptom duration, patients with Probable LD, compared to patients without Probable LD, were significantly more likely to be diagnosed with Atypical Dementia vs. Typical AD (OR 13.1, 95% CI 1.3-128.4. All three of the L-PPA cases reporting a childhood LD endorsed childhood difficulty with language. By contrast, both PCA cases reporting Probable childhood LD endorsed difficulty with attention and/or math.In people who develop dementia, childhood LD may predispose to atypical phenotypes. Future studies are required to confirm whether atypical neurodevelopment predisposes to regional-specific neuropathology in AD and other dementias.

  10. A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

    Science.gov (United States)

    Boutoleau-Bretonnière, Claire; Camuzat, Agnès; Le Ber, Isabelle; Bouya-Ahmed, Kawtar; Guerreiro, Rita; Deruet, Anne-Laure; Evrard, Christelle; Bras, José; Lamy, Estelle; Auffray-Calvier, Elisabeth; Pallardy, Amandine; Hardy, John; Brice, Alexis; Derkinderen, Pascal; Vercelletto, Martine

    2015-01-01

    SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently, SQSTM1 mutations were identified in few families with frontotemporal dementia. We report a new family carrying SQSTM1 mutation and presenting with a clinical phenotype of speech apraxia or atypical behavioral disorders, associated with early visuo-contructional deficits. This study further supports the implication of SQSTM1 in frontotemporal dementia, and enlarges the phenotypic spectrum associated with SQSTM1 mutations.

  11. Topical Pain Relievers May Cause Burns

    Science.gov (United States)

    ... Consumers Consumer Updates Topical Pain Relievers May Cause Burns Share Tweet Linkedin Pin it More sharing options ... rare, have ranged from mild to severe chemical burns with use of such brand-name topical muscle ...

  12. Probabilistic Sequence Learning in Mild Cognitive Impairment

    Directory of Open Access Journals (Sweden)

    Dezso eNemeth

    2013-07-01

    Full Text Available Mild Cognitive Impairment (MCI causes slight but noticeable disruption in cognitive systems, primarily executive and memory functions. However, it is not clear if the development of sequence learning is affected by an impaired cognitive system and, if so, how. The goal of our study was to investigate the development of probabilistic sequence learning, from the initial acquisition to consolidation, in MCI and healthy elderly control groups. We used the Alternating Serial Reaction Time task (ASRT to measure probabilistic sequence learning. Individuals with MCI showed weaker learning performance than the healthy elderly group. However, using the reaction times only from the second half of each learning block – after the reactivation phase - we found intact learning in MCI. Based on the assumption that the first part of each learning block is related to reactivation/recall processes, we suggest that these processes are affected in MCI. The 24-hour offline period showed no effect on sequence-specific learning in either group but did on general skill learning: the healthy elderly group showed offline improvement in general reaction times while individuals with MCI did not. Our findings deepen our understanding regarding the underlying mechanisms and time course of sequence acquisition and consolidation.

  13. Medial rectus muscle myositis as an atypical presentation of mucosa-associated lymphatic tissue lymphoma: a case report

    Directory of Open Access Journals (Sweden)

    Juliana Sá Freire Medrado Dias

    2014-04-01

    Full Text Available Here we describe the rare case of a 55-year-old man with medial rectus muscle myositis as an atypical presentation of non-Hodgkin B-cell mucosa-associated lymphoma (MALT. Pathology and immunohistochemistry of the affected muscle confirmed the diagnosis of a neoplasm. The primary etiology of orbital myositis is Graves' ophthalmopathy, but several other diseases may cause this clinical presentation. Therefore, the neoplastic causes must be eliminated from the differential diagnoses. non-Hodgkin B-cell mucosa-associated lymphoma is the most common histological type of lymphoma in the orbit, with the conjunctiva and lacrimal glands being the most commonly affected sites. However, it may also present in atypical forms involving others sites and tissues.

  14. Ichthyosiform mycosis fungoides with alopecia and atypical membranous nephropathy

    Directory of Open Access Journals (Sweden)

    Qiang Zhou

    2011-01-01

    Full Text Available We describe here a rare case of variant of mycosis fungoides (MF: ichthyosiform MF with alopecia and atypical membranous nephropathy. The diagnosis was made based on the following findings: generalized ichthyosis-like eruption, alopecia, enlarged superficial lymph nodes, proteinuria, and hematuria, the histological features of the skin biopsy from both ichthyotic and alopecic lesions with immunohistochemical staining, and the renal biopsy examination with immunofluorescence. The histological examination of ichthyotic and alopecic lesions displayed a predominant infiltration of atypical lymphocytes in the upper dermis with the characteristics of epidermotropism and folliculotropism. Immunohistochemical studies demonstrated that most infiltrated atypical lymphocytes were CD3, CD4, and CD45RO positive, whereas negative for CD5, CD7, CD20, CD30, and CD56. A renal biopsy examination revealed atypical membranous nephropathy with deposition of immunoglobulin G (IgG, IgM, IgA, C1q, and C3. In this case atypical membranous nephropathy was involved, which is very uncommon and has never been presented in the literature to date. Although ichthyosiform MF usually features a relatively favorable course, diffuse alopecia and the renal involvement in this case might indicate aggressive disease and poor prognosis.

  15. Atypical periprosthetic acetabular fracture in long-term alendronate therapy

    Science.gov (United States)

    Marongiu, Giuseppe; Capone, Antonio

    2016-01-01

    Summary Bisphosphonates have been commonly used in the treatment of osteoporosis, demonstrating its efficacy in fracture risk reduction. However, even if are generally safe and well tolerated, concerns have emerged about atypical fractures related to its prolonged use. Although atypical femoral fracture are more common, case reports demonstrated that even other skeletal areas can be involved by unusual pattern of fracture. We report a atypical acetabular periprosthetic fracture in a 83-year-old female patient after prolonged alendronate treatment for osteoporosis and isolated acetabular revision surgery. The patient underwent to clinical, bioumoral and radiological evaluation and all the history cases were fully reported. We believe this periprosthetic fracture, according to the available data, may have similar underlying pathology to atypical femoral fractures. Awareness of symptoms, in addition to a regular radiographic survey may facilitate early diagnosis and possible prevention of spontaneous periprosthetic fractures, in patients receiving bisphosphonate therapy beyond 5 years. The treatment of this atypical periprosthetic fracture should include both surgical than pharmacological therapy to obtained bone healing. PMID:28228784

  16. Management of atypical lobular hyperplasia, atypical ductal hyperplasia, and lobular carcinoma in situ.

    Science.gov (United States)

    Clauser, Paola; Marino, Maria A; Baltzer, Pascal A T; Bazzocchi, Massimo; Zuiani, Chiara

    2016-01-01

    Atypical hyperplasia and lobular carcinoma in situ are rare proliferative breast lesions, growing inside ducts and terminal ducto-lobular units. They represent a marker of increased risk for breast cancer and a non-obligate precursor of malignancy. Evidence available on diagnosis and management is scarce. They are frequently found incidentally associated with other lesions, but can be visible through mammography, ultrasound or magnetic resonance. Due to the risk of underestimation, surgical excision is often performed. The analysis of imaging and histopathological characteristics could help identifying low-risk cases, for which surgery is not necessary. Chemopreventive agents can be used for risk reduction. Careful imaging follow up is mandatory; the role of breast MRI as screening modality is under discussion.

  17. Peripheral gangrene in children with atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Malina, Michal; Gulati, Ashima; Bagga, Arvind; Majid, Mohammad A; Simkova, Eva; Schaefer, Franz

    2013-01-01

    Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy with severe clinical manifestation, frequent recurrence, and poor long-term prognosis. It is usually caused by abnormalities in complement regulation. We report 2 cases of children affected by a catastrophic extrarenal complication. A 4-year-old Indian girl developed gangrene of the finger tips 2 days after initial presentation of aHUS. Factor H autoantibodies were identified. Renal function continued to decline despite daily plasma exchanges, and she was started on peritoneal dialysis 5 days after admission. The distal tips of the left hand remained gangrenous with a line of demarcation. Three weeks later, she did not return for follow-up and died at home because of dialysis-related complications. An Arabic girl developed end-stage renal disease due to aHUS in the fourth month after birth. A de novo activating C3 mutation was found. At age 9 months, she suddenly developed ischemic changes in fingers of both hands and several toes. The lesions progressed, and several finger tips became gangrenous despite intense plasma exchange therapy. The decision was made to administer complement blocking therapy with the C5 antibody eculizumab. All nonnecrotic digits rapidly regained perfusion. The 3 already gangrenous fingers healed with loss of the end phalanges. During maintenance, eculizumab aHUS activity subsided completely and some late recovery of renal function was observed. aHUS may present by thrombotic macroangiopathy of small peripheral arteries. Eculizumab appears effective in preserving tissue viability if administered before gangrene occurs and should be considered as first-line rescue therapy in such cases.

  18. Guide to MildSim

    DEFF Research Database (Denmark)

    Christensen, Hanne Rolfdal; Thomassen, Kristina; Kofoed, Jens Peter

    The changes in the wave conditions when approaching the coast are caused by shoaling, refraction, diffraction, and wave breaking [Andersen and Frigaard, 2008]. All these effects are easiest taken into account by using a numerical program such as MILDSIM which accurately computes the mentioned eff...

  19. Atypical cellular blue nevus or malignant blue nevus?*

    Science.gov (United States)

    Daltro, Luise Ribeiro; Yaegashi, Lygia Bertalha; Freitas, Rodrigo Abdalah; Fantini, Bruno de Carvalho; Souza, Cacilda da Silva

    2017-01-01

    Blue nevus is a benign melanocytic lesion whose most frequent variants are dendritic (common) blue nevus and cellular blue nevus. Atypical cellular blue nevus presents an intermediate histopathology between the typical and a rare variant of malignant blue nevus/melanoma arising in a cellular blue nevus. An 8-year-old child presented a pigmented lesion in the buttock since birth, but with progressive growth in the last two years. After surgical excision, histopathological examination revealed atypical cellular blue nevus. Presence of mitoses, ulceration, infiltration, cytological atypia or necrosis may occur in atypical cellular blue nevus, making it difficult to differentiate it from melanoma. The growth of blue nevus is unusual and considered of high-risk for malignancy, being an indicator for complete resection and periodic follow-up of these patients. PMID:28225968

  20. Gender-Atypical Mental Illness as Male Gender Threat.

    Science.gov (United States)

    Michniewicz, Kenneth S; Bosson, Jennifer K; Lenes, Joshua G; Chen, Jason I

    2016-07-01

    The present study examined whether men view gender-atypical (i.e., feminine) psychological disorders as threats to their gender status. Men and women (N = 355) rated their expectations of gender status loss, feelings of distress, and help-seeking intentions in response to 10 different stereotypically masculine and feminine psychological disorders. Men as compared to women expected greater gender status loss for, and reported more distress to, gender-atypical versus gender-typical disorders. Expectations of gender status loss partially mediated the link between participant gender and distress at the thought of gender-atypical disorders. These findings suggest that feminine disorders pose more powerful gender status threats for men than masculine disorders do and that men's expectations of gender status loss for feminine disorders drive their negative reactions to these mental illnesses. The discussion emphasizes the importance of considering the gender-typicality of disorders, and the implications of these findings for clinical interventions.

  1. Atypical pyoderma gangrenosum in a patient with osteomyelofibrosis

    Directory of Open Access Journals (Sweden)

    Živanović Dubravka

    2007-01-01

    Full Text Available Background. Atypical forms of pyoderma gangrenosum generally appear on the upper extremities; most frequently they are associated with myeloproliferative disorders, including osteomyelofibrosis. A response to systemic steroids is more pronounced than in classical form. Sometimes it may be the first sign of an underlying malignancy. Case report. We reported a patient with atypical pyoderma gangrenosum developed during the course of a myeloid malignancy - osteomyelofibrosis. The lesions occurred after a minor trauma. Painful blistering plaques, with an elevated, bluish-gray border were located on the dorsal aspect of hands. No skin malignancy was found. The lesions resolved rapidly to systemic steroids. Conclusion. Considering the unusual clinical presentation which makes the diagnosis difficult, as well as the fact that atypical forms of pyoderma gangrenosum can be the first sign of malignancies, especially myeloproliferative ones, recognizing this entity enables timely guiding future investigations toward their prompt detection.

  2. Atypical Imaging Findings in Primary Central Nervous System Lymphoma

    Directory of Open Access Journals (Sweden)

    Zahra Afravi

    2010-05-01

    Full Text Available Background/Objective: The incidence of primary CNS lymphomas (PCNSL is increasing. Timely diagnosis of PCNSL can lead to proper therapeutic management. There are some atypical imaging findings that may easily be misdiagnosed as other pathologic processes such as infectious and demyelinative diseases. As a result, histopathologic diagnosis is necessary for all suspected lesions."nPatients and Methods: In this research we studied 120 cases of PCNSL over the past 16 years. Some of them had atypical imaging findings, suggesting many differential diagnoses. Having said that, stereotactic biopsy was performed for all cases and the diagnosis was proved."nResults: We selected some interesting cases with atypical imaging findings of PCNSL, which were unlikely to be diagnosed without histopathologic evaluation. "nConclusion: PCNSL must be kept in mind as a differential diagnosis for other brain lesions. Histopathologic diagnosis is necessary for prompt management.

  3. Pulmonary aspergillosis: Atypical presentation in immunocompetent individuals

    OpenAIRE

    Ramakrishna Pai Jakribettu; Rekha Boloor; Shreevidya Kinila; Thomas S Kuruvilla

    2013-01-01

    Aspergillosis, an opportunistic infection, is a major cause of morbidity and mortality in immunocompromised patients. But, Aspergillus is also known to cause Pulmonary aspergillosis in immunocompetent host too. Only few cases have been reported in literature of Aspergillosis in Immunocompetent individuals so far. Here, we report 4 different cases of Pulmonary Aspergillosis , who have presented with acute symptoms.The possibility of pulmonary mycosis needs to be considered in patients with acu...

  4. Atypical Pupillary Light Reflex in Individuals with Autism

    Science.gov (United States)

    2014-09-01

    AWARD NUMBER: W81XWH-10-1-0474 TITLE: Atypical Pupillary Light Reflex in Individuals with Autism ...30th/2014 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER W81XWH-10-1-0474 Atypical Pupillary  Light  Reflex in Individuals with  Autism 5b. GRANT NUMBER...20,  p< .00005 in all instances].  15. SUBJECT TERMS Pupillary light reflex, autism , functional MRI 16. SECURITY CLASSIFICATION OF: 17

  5. Critical appraisal of eculizumab for atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Palma, Lilian M Pereira; Langman, Craig B

    2016-01-01

    The biology of atypical hemolytic uremic syndrome has been shown to involve inability to limit activation of the alternative complement pathway, with subsequent damage to systemic endothelial beds and the vasculature, resulting in the prototypic findings of a thrombotic microangiopathy. Central to this process is the formation of the terminal membrane attack complex C5b-9. Recently, application of a monoclonal antibody that specifically binds to C5, eculizumab, became available to treat patients with atypical hemolytic uremic syndrome, replacing plasma exchange or infusion as primary therapy. This review focuses on the evidence, based on published clinical trials, case series, and case reports, on the efficacy and safety of this approach.

  6. Atypical Neuroleptic Malignant Syndrome Associated with Use of Clozapine

    Directory of Open Access Journals (Sweden)

    Quevedo-Florez Leonardo

    2017-01-01

    Full Text Available The Neuroleptic Malignant Syndrome (NMS is a medical emergency of infrequent presentation in the emergency department, which is associated with the use of psychiatric drugs, such as typical and atypical antipsychotics. Our case addresses a 55-year-old patient diagnosed with undifferentiated schizophrenia for 10 years, who had been receiving clozapine and clonazepam as part of their treatment. This patient presents the symptoms of Neuroleptic Malignant Syndrome without fever, which improves with treatment especially with the withdrawal of clozapine. In the absence of fever and clinical improvement, the patient is considered to have an atypical presentation of this disease.

  7. Nonsurgical interventions after mild traumatic brain injury

    DEFF Research Database (Denmark)

    Nygren-de Boussard, Catharina; Holm, Lena W; Cancelliere, Carol;

    2014-01-01

    OBJECTIVE: To synthesize the best available evidence regarding the impact of nonsurgical interventions on persistent symptoms after mild traumatic brain injury (MTBI). DATA SOURCES: MEDLINE and other databases were searched (2001-2012) with terms including "rehabilitation." Inclusion criteria wer...

  8. Appropriateness of laboratory tests: requests for atypical pneumonia serology in a teaching hospital.

    LENUS (Irish Health Repository)

    Jackson, L M

    2012-02-03

    The cost of providing medical care is ever-increasing but the resources available are at best static. Major savings can be made by reducing inappropriate investigations. Using serological testing for organisms causing atypical pneumonia as an example, we examined the appropriateness of requests and also physicians\\' understanding of the test. Of 119 patients tested, only 3 had titres indicative of acute infection. Most patients were tested within 2 days of hospital admission, before receipt of results excluding more likely diagnoses. Forty-five patients had no current or recent respiratory symptoms, in whom infection was highly unlikely. Titres were most often requested by the least experienced members of the clinical team. Of 70 patients with an acute illness in whom a definitive diagnosis, bacteriological or otherwise, was not made, in only 9 was a convalescent specimen sent for follow-up titres. Most requests for serology for organisms causing atypical pneumonia were inappropriate. Furthermore, in the majority of cases the test was incorrectly used.

  9. Minimizing Cardiovascular Adverse Effects of Atypical Antipsychotic Drugs in Patients with Schizophrenia

    Directory of Open Access Journals (Sweden)

    Fadi T. Khasawneh

    2014-01-01

    Full Text Available The use of atypical antipsychotic agents has rapidly increased in the United States and worldwide in the last decade. Nonetheless, many health care practitioners do not appreciate the significance of the cardiovascular side effects that may be associated with their use and the means to minimize them. Thus, atypical antipsychotic medications can cause cardiovascular side effects such as arrhythmias and deviations in blood pressure. In rare cases, they may also cause congestive heart failure, myocarditis, and sudden death. Patients with schizophrenia have a higher risk of cardiovascular mortality than healthy individuals, possibly because of excessive smoking, the underlying disorder itself, or a combination of both factors. Increased awareness of these potential complications can allow pharmacists and physicians to better manage and monitor high risk patients. Accurate assessments are very important to avoid medications from being given to patients inappropriately. Additionally, monitoring patients regularly via blood draws and checking blood pressure, heart rate, and electrocardiogram can help catch any clinical problems and prevent further complications. Finally, patient and family-member education, which pharmacists in particular can play key roles in, is central for the management and prevention of side effects, which is known to reflect positively on morbidity and mortality in these patients.

  10. Infectious crystalline keratopathy caused by Cladosporium sp. after penetrating keratoplasty: a case report

    Science.gov (United States)

    Stock, Ricardo Alexandre; Bonamigo, Elcio Luiz; Cadore, Emeline; Oechsler, Rafael Allan

    2016-01-01

    Background Infectious crystalline keratopathy is a rare, progressive infection characterized by the insidious progression of branches and crystalline corneal opacities with minimal or no inflammation. This case report describes the evolution of an infectious crystalline keratopathy caused by Cladosporium sp., which developed after tectonic keratoplasty in a patient with a history of ocular trauma. Case presentation A 40-year-old Brazilian male was the victim of firework-induced trauma to the left eye, which resulted in a corneal laceration that could not be sutured as well as a severe traumatic cataract. The patient underwent penetrating keratoplasty and phacoemulsification. During postoperative follow-up, another therapeutic keratoplasty was required because unresponsive infectious keratitis was observed. The infiltrate’s characteristics were suggestive of infectious crystalline keratopathy; in particular, the infiltrate was insidious and progressive, and grayish-white branches appeared in the anterior corneal stroma. As different therapies were administered, inflammatory reactions ranging from mild to severe were observed. The infection was unresponsive to typical antifungal drugs. This lack of response most likely occurred due to steroid treatment and the diffuse corneal spread of an atypical microorganism, which was subsequently identified in culture as Cladosporium sp. After the second therapeutic keratoplasty, the patient’s eye integrity was successfully reestablished. Conclusion This study likely provides the first report describing a case of infectious crystalline keratopathy caused by Cladosporium sp. This case emphasizes the clinical characteristics and outcome of this type of keratitis. PMID:27621671

  11. A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

    DEFF Research Database (Denmark)

    Drivenes, Bergitte; Born, Alfred Peter; Ek, Jakob

    2015-01-01

    INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia. CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrome...

  12. Pulmonary aspergillosis: Atypical presentation in immunocompetent individuals

    Directory of Open Access Journals (Sweden)

    Ramakrishna Pai Jakribettu

    2013-01-01

    Full Text Available Aspergillosis, an opportunistic infection, is a major cause of morbidity and mortality in immunocompromised patients. But, Aspergillus is also known to cause Pulmonary aspergillosis in immunocompetent host too. Only few cases have been reported in literature of Aspergillosis in Immunocompetent individuals so far. Here, we report 4 different cases of Pulmonary Aspergillosis , who have presented with acute symptoms.The possibility of pulmonary mycosis needs to be considered in patients with acute pulmonary symptoms like breathlessness , hemoptysis, etc with signs of infection even in immunocompetent individuals, without underlying pulmonary disease.

  13. Atypical case of Reye's syndrome. Usefulness of CT for diagnosis and follow-up study

    Energy Technology Data Exchange (ETDEWEB)

    Maehara, Fumiaki; Goto, Katsuya; Okudera, Toshio; Mitsudome, Akihisa; Hara, Kunio; Shiraishi, Masayuki (Fukuoka Univ. (Japan))

    1982-12-01

    An atypical case of Reye's syndrome was reported with emphasis on usefulness of CT for the diagnosis and follow-up study of this disease. The patient was a 13-month-old girl who had been transferred to our hospital because of status epilepticus, a comatous state and a high temperature. She was diagnosed as having Reye's syndrome according to data of liver function tests, findings in CSF and body CT which revealed swelling of the liver with diminished attenuation value suggesting fatty infiltration. However, there were atypical features in this patient: epileptic seizures since age 5 months, no vomiting at the time of onset and no evidence of brain swelling on CT in acute phase. She was discharged 2 months later with impaired neuropsychological functions of marked degree. When she was 2 year-old, she again went into status epilepticus, was comatous and had a high temperature. She was dead when she arrived at emergency room of our hospital. Autopsy findings revealed features of Reye's syndrome as follows: abundant accumulation of small fat droplets without nuclear displacement in the liver, fatty infiltration in the kidney and myocardium, and mild swelling in the cerebral cortex with marked ventricular dilatation. The possibility of recurrence of Reye's syndrome was discussed based on the clinical and autopsy findings. The value of CT in the diagnosis and the follow-up study of this disease was emphasized.

  14. Investigation of patients with atypical or severe hyperandrogenaemia including androgen-secreting ovarian teratoma.

    LENUS (Irish Health Repository)

    Dennedy, Michael Conall

    2012-02-01

    Approximately 7% of women of reproductive age manifest polycystic ovary syndrome (PCOS) and <0.5% have other causes of hyperandrogenism including congenital adrenal hyperplasia (CAH), androgen-secreting tumour of an ovary or an adrenal gland, Cushing\\'s syndrome or hyperthecosis. The presence of features atypical of PCOS should prompt more extensive evaluation than that usually undertaken. Features atypical of PCOS include the onset of symptoms outside the decade of 15-25 years, rapid progression of symptoms, the development of virilization and a serum testosterone concentration in excess of twice the upper limit of the reference range. Ethnic background, family history and specific clinical findings, e.g. Cushingoid appearance, may inform a focused investigation. Otherwise, patients should have measurement of 17-hydroxyprogesterone (17-OHP) under basal conditions ideally in the early morning, and if abnormal, they should have measurement of 17-OHP one hour after the administration of synthetic ACTH, 250 microg i.v., to screen for CAH, which is present in approximately 2% of hyperandrogenic patients. The overnight cortisol suppression test employing 1 mg dexamethasone at midnight is a sensitive test for Cushing\\'s syndrome. Coronal tomographic (CT) scanning of the adrenals and transvaginal ultrasonography of the ovaries are the investigations of choice when screening for tumours in these organs. Less frequently required is catheterization and sampling from both adrenal and ovarian veins, which is a technically demanding procedure with potential complications which may provide definitive diagnostic information not available from other investigations. Illustrative case reports highlight some complexities in the investigation of hyperandrogenic patients presenting with features atypical of PCOS and include only the ninth case report of an androgen-secreting ovarian teratoma.

  15. Diagnosis and treatment of atypical presentations of hiatal hernia following bariatric surgery.

    Science.gov (United States)

    Flanagin, Brody A; Mitchell, Myrosia T; Thistlethwaite, William A; Alverdy, John C

    2010-03-01

    Bariatric surgery dramatically alters the normal stomach anatomy resulting in a significant incidence of hiatal hernia and gastroesophageal reflux disease. Although the majority of patients remain asymptomatic, many complain of severe heartburn refractory to medical management and additional highly atypical symptoms. Here, we describe the diagnosis and treatment regarding four cases of symptomatic hiatal hernia following bariatric surgery presenting with atypical symptoms in the University Hospital, USA. Four patients presented following laparoscopic Roux-en-Y gastric bypass or duodenal switch/pancreaticobiliary bypass (DS) with disabling and intractable midepigastric abdominal pain characterized as severe and radiating to the jaw, left shoulder, and midscapular area. The pain in all cases was described as paroxysmal and not necessarily associated with eating. All four patients also experienced nausea, vomiting, and failure to thrive at various intervals following laparoscopic bariatric surgery. Routine workup failed to produce any clear mechanical cause of these symptoms. However, complimentary use of multidetector CT and upper gastrointestinal contrast studies eventually revealed the diagnosis of hiatal hernia. Exploration identified the presence of a type I hiatal hernia in all four patients, with the stomach staple lines densely adherent to the diaphragm and parietal peritoneum. Operative intervention led to immediate and complete resolution of symptoms. The presence of a hiatal hernia following bariatric surgery can present with highly atypical symptoms that do not resolve without operative intervention. Recognition of this problem should lead to the consideration of surgery in cases where patients are dependent on artificial nutritional support and whose symptoms are poorly controlled with medication alone.

  16. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

    Science.gov (United States)

    Pebrel-Richard, Céline; Kemeny, Stéphan; Gouas, Laetitia; Eymard-Pierre, Eléonore; Blanc, Nathalie; Francannet, Christine; Tchirkov, Andreï; Goumy, Carole; Vago, Philippe

    2012-11-01

    Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/velocardiofacial syndrome (DGS/VCFS), including heart defects, urogenital abnormalities and velopharyngeal insufficiency. We present an atypical and inherited 0.8-Mb duplication at 22q11.2, in the distal segment of the DGS/VCFS syndrome typically deleted region (TDR), in a 3-year-old boy with motor delay, language disorders and mild facial phenotype. This 22q11.2 microduplication was identified by MLPA, designed to detect recurrent microdeletions and microduplications of chromosomal regions frequently involved in mental retardation syndromes and was further characterized by aCGH. The duplicated region encompasses 14 genes, excluding TBX1 but including CRKL, ZNF74, PIK4CA, SNAP29 and PCQAP known to contribute to several aspects of the DGS/VCFS phenotype. To the best of our knowledge, only one case of an isolated duplication in the distal segment of the TDR between chromosome 22-specific low-copy repeats B (LCR22-B) and D (LCR22-D) has been published, but the present report is the first one with a detailed description of physical and developmental features in a patient carrying this kind of atypical 22q11.2 duplication. This case illustrates the importance of reporting unusual 22q11.2 duplications to further evaluate the incidence of these rearrangements in the general population and to improve genotype-phenotype correlations and genetic counseling.

  17. Treatment of atypical trigeminal neuralgia with microvascular decompression

    Directory of Open Access Journals (Sweden)

    Hai Jian

    2006-01-01

    Full Text Available Aim: To explore the methods for achieving pain relief in patients with atypical trigeminal neuralgia (TN using microvascular decompression (MVD. Study Design and Settings: Retrospective study of 26 patients treated during the years 2000 to 2004. Materials and Methods: Twenty-six patients in whom vascular compression of the trigeminal nerve was identified by high definition magnetic resonance tomographic angiography (MRTA were treated with MVD for atypical TN in our department. Clinical presentations, surgical findings and clinical outcomes were analyzed retrospectively. Results: In this study, single trigeminal division was involved in only 2 patients (8% and two or three divisions in the other 24 patients (92%. Of prime importance is the fact that in 46.2% of the patients, several conflicting vessels were found in association. Location of the conflicts around the circumference of the trigeminal root was supero-medial to the root in 53.5%, supero-lateral in 30.8% and inferior in 15.7%. MVD for atypical TN resulted in complete pain relief in 50% of the patients with complete decompression, partial pain relief in 30.8% and poor pain relief or pain recurrence in 19.2% of the patients without complete decompression postoperatively. Conclusions: Complete decompression of the entire trigeminal root plays an important role in achieving pain relief in patients with atypical TN with MVD.

  18. Sonographic findings of typical and atypical scrotal trauma.

    Science.gov (United States)

    Sommers, Daniel N; Jensen, Jeff

    2015-06-01

    This review article illustrates sonographic findings in the setting of accidental and nonaccidental scrotal trauma. Although sonographic findings may be irrespective of the type of trauma, the goals of sonographic evaluation are similar in both atypical and typical mechanisms of scrotal injury. Familiarity with findings such as disruption of testicular integrity or vascularity facilitates prompt diagnosis and plays a critical role in clinical management.

  19. Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome.

    NARCIS (Netherlands)

    Legendre, C.M.; Licht, C.; Muus, P.; Greenbaum, L.A.; Babu, S.; Bedrosian, C.; Bingham, C.; Cohen, D.J.; Delmas, Y.; Douglas, K.; Eitner, F.; Feldkamp, T.; Fouque, D.; Furman, R.R.; Gaber, O.; Herthelius, M.; Hourmant, M.; Karpman, D.; Lebranchu, Y.; Mariat, C.; Menne, J.; Moulin, B.; Nurnberger, J.; Ogawa, M.; Remuzzi, G.; Richard, T.; Sberro-Soussan, R.; Severino, B.; Sheerin, N.S.; Trivelli, A.; Zimmerhackl, L.B.; Goodship, T.; Loirat, C.

    2013-01-01

    BACKGROUND: Atypical hemolytic-uremic syndrome is a genetic, life-threatening, chronic disease of complement-mediated thrombotic microangiopathy. Plasma exchange or infusion may transiently maintain normal levels of hematologic measures but does not treat the underlying systemic disease. METHODS: We

  20. Transposition with atypical coronary pattern: the Aubert technique.

    Science.gov (United States)

    Pita-Fernández, Ana; González-López, María T; Gil-Jaurena, Juan M

    2017-03-06

    The arterial switch operation is currently the gold standard technique for repair of transposition of the great arteries. Some atypical coronary patterns such as intramural, interarterial, and a unique posterior button are associated with more complexity and surgical risk. We report a successful Aubert operation for transposition of the great arteries associated with a single and interarterial coronary artery arising from a posterior sinus.

  1. Late atypical atrial flutter after ablation of atrial fibrillation.

    Science.gov (United States)

    Ferreira, Raquel; Primo, João; Adão, Luís; Gonzaga, Anabela; Gonçalves, Helena; Santos, Rui; Fonseca, Paulo; Santos, José; Gama, Vasco

    2016-10-01

    Cardiac surgery for structural heart disease (often involving the left atrium) and radiofrequency catheter ablation of atrial fibrillation have led to an increased incidence of regular atrial tachycardias, often presenting as atypical flutters. This type of flutter is particularly common after pulmonary vein isolation, especially after extensive atrial ablation including linear lesions and/or defragmentation. The authors describe the case of a 51-year-old man, with no relevant medical history, referred for a cardiology consultation in 2009 for paroxysmal atrial fibrillation. After failure of antiarrhythmic therapy, he underwent catheter ablation, with criteria of acute success. Three years later he again suffered palpitations and atypical atrial flutter was documented. The electrophysiology study confirmed the diagnosis of atypical left flutter and reappearance of electrical activity in the right inferior pulmonary vein. This vein was again ablated successfully and there has been no arrhythmia recurrence to date. In an era of frequent catheter ablation it is essential to understand the mechanism of this arrhythmia and to recognize such atypical flutters.

  2. Characterization of atypical Aeromonas salmonicida by different methods

    DEFF Research Database (Denmark)

    Austin, B.; Austin, D.A.; Dalsgaard, Inger;

    1998-01-01

    Fifty two isolates of atypical Aeromonas salmonicida, recovered from a wide range of hosts and geographical locations, were heterogeneous in terms of molecular and phenotypic characteristics, and represented taxa which could not be accommodated by the current classification of four subspecies...

  3. Exploring Atypical Verb+Noun Combinations in Learner Technical Writing

    Science.gov (United States)

    Luzon Marco, Maria Jose

    2011-01-01

    Professional and academic discourse is characterised by a specific phraseology, which usually poses problems for students. This paper investigates atypical verb+noun collocations in a corpus of English technical writing of Spanish students. I focus on the type of verbs that most frequently occurred in these awkward or questionable combinations and…

  4. Giant atypical ossifying fibromyxoid tumour of the calf

    Energy Technology Data Exchange (ETDEWEB)

    Harish, Srinivasan [Cambridge University Hospitals NHS Foundation Trust, Department of Radiology, Cambridge (United Kingdom); Addenbrookes Hospital, Department of Radiology, Hills Road, Box 219, Cambridge (United Kingdom); Polson, Alexander; Griffiths, Meryl [Cambridge University Hospitals NHS Foundation Trust, Department of Histopathology, Cambridge (United Kingdom); Morris, Paul; Malata, Charles [Cambridge University Hospitals NHS Foundation Trust, Department of Plastic Surgery, Cambridge (United Kingdom); Bearcroft, Philip W.P. [Cambridge University Hospitals NHS Foundation Trust, Department of Radiology, Cambridge (United Kingdom)

    2006-04-15

    We present a case of giant atypical ossifying fibromyxoid tumour (OFMT) of soft tissue, occurring in the calf, in a 77-year-old woman. The patient presented with a history of bleeding ulcer over a calf lump that had been present for over 4 years. Clinical presentation, radiological features and histopathologic findings are described, and the relevant literature is reviewed. (orig.)

  5. Stereological estimation of nuclear volume in benign and atypical meningiomas

    DEFF Research Database (Denmark)

    Madsen, C; Schrøder, H D

    1993-01-01

    A stereological estimation of nuclear volume in benign and atypical meningiomas was made. The aim was to investigate whether this method could discriminate between these two meningeal neoplasms. The difference was significant and it was moreover seen that there was no overlap between the two grou...

  6. Atypical Presentation of Fibrolipomatous Hamartoma of Superficial Peroneal Nerve.

    Science.gov (United States)

    Dhinsa, Baljinder Singh; Lidder, Surjit; Abbasian, Ali

    2016-01-01

    Fibrolipomatous hamartoma is a rare presentation in the foot. An accurate diagnosis is key, with magnetic resonance imaging findings considered definitive. The management is dependent on the symptoms. We present an atypical presentation of fibrolipomatous hamartoma of the superficial peroneal nerve and discuss the current published data.

  7. The Cost-Effectiveness of Atypicals in the UK

    NARCIS (Netherlands)

    Heeg, Bart; Buskens, Erik; Botteman, Marc; Caleo, Sue; Ingham, Mike; Damen, Joep; de Charro, Frank; van Hout, Ben

    2008-01-01

    Background: In 2002, the National Institute for Health and Clinical Excellence (NICE), recommended atypical antipsychotics over conventional ones for first-line schizophrenia treatment, based on their lower risk of extrapyramidal symptoms. Objective: To estimate the incremental cost-effectiveness of

  8. Atypical Cat-Scratch Disease in Children: Report of Seven Presentations Ranging From Hepatosplenic Disease to Horner Syndrome

    Directory of Open Access Journals (Sweden)

    Gilliaux

    2016-01-01

    Full Text Available Introduction Cat scratch disease (CSD is an infectious disease caused by the Gram-negative rod Bartonella henselae (BH. It usually leads to subacute loco-regional lymphadenitis occasionally associated with fever. In most of the cases, it resolves spontaneously within 4 - 6 weeks. However, CSD has also been associated with other atypical presentations. Case Presentation We reported a series of seven children with unusual symptoms of CSD. In particular, we described the case of a child with ptosis, miosis and enophtalmy, suggesting Horner syndrome, associated with cervical lymphadenitis. Cat scratch was mentioned in only one patient, while four of them mentioned a recent contact with cats. We reviewed and discussed the incidence of these atypical presentations of CSD as well as the therapeutic approaches recommended and the available diagnostic tools. Conclusions This paper highlighted the need to exclude CSD in children with unexplained symptoms such as prolonged fever, hepatosplenic lesion and osteomyelitis.

  9. Supervised clustering of immunohistochemical markers to distinguish atypical and non-atypical endometrial hyperplasia.

    Science.gov (United States)

    Laas, Enora; Ballester, Marcos; Cortez, Annie; Gonin, Julie; Canlorbe, Geoffroy; Daraï, Emile; Graesslin, Olivier

    2015-04-01

    The risk of endometrial hyperplasia (EH) progressing into endometrioid endometrial cancer ranges from 1% for simple EH without atypia (EHWA) to 46.2% for atypical EH (AEH). Differentiation between both entities is crucial to determine optimal management. As preoperative diagnosis of AEH can be difficult, we aimed to establish clusters of immunohistochemical markers to distinguish EHWA from AEH. We studied 13 immunohistochemical markers (steroid receptors, pro/anti-apoptotic proteins, metalloproteinases (MMP), tissue inhibitor of metalloproteinase (TIMP), CD44 isoforms) known for their role in endometrial pathology. Using supervised clustering, we determined clusters of co-expressed proteins which contributed the most in differentiating EHWA from AEH. From 39 tissue samples (17 EHWA and 22 AEH), we found three clusters of co-expressed proteins: Cluster 1 included two proteins (over-expression of estrogen receptor (ER) and under-expression of progesterone receptor (PR) B in AEH compared to EHWA); Cluster 2: an ER, PR A, MMP-2 and TIMP-1 over-expression and a PR B and TIMP-2 under-expression; Cluster 3: over-expression of ER and MMP-7 and under-expression of PR B and TIMP-2. AEH can be accurately distinguished from EHWA using a supervised clustering of immunohistochemical markers. This promising approach could be useful to improve the preoperative diagnosis of EH.

  10. Understanding A-type supergiants. I. Ultraviolet and visible spectral atlas of A-type supergiants

    CERN Document Server

    Verdugo, E; Gómez de Castro, A I

    1999-01-01

    This paper is the first of a series whose aim is to perform a systematic study of A-type supergiant atmospheres and winds. Here we present a spectral atlas of 41 A-supergiants observed by us in high and medium resolution in the visible and ultraviolet. The atlas consists of profiles of the H alpha , H beta , H gamma , H delta , H epsilon , Ca II (H and K), Na I (D1 and D2), Mg II/sub 4481/, Mg II uv1 and Fe II uv1, uv2, uv3, uv62, uv63, uv161 lines for 41 stars with spectral types ranging from B9 to A9 and luminosity classes Ia, Iab and Ib, and provides the basic data for a thoughtful study of these stars. The overall characteristics of the sample as well as the data reduction procedures are described. We also present some examples of spectral variability. Figures 1-3 are only available in electronic form at http://www.edpsciences.com. (27 refs).

  11. Cognitive deficits in patients with mild to moderate traumatic brain injury

    Directory of Open Access Journals (Sweden)

    Eliane Correa Miotto

    2010-12-01

    Full Text Available Traumatic brain injury (TBI is one of the most frequent causes of brain damage. Cognitive deficits reported in the literature after moderate to severe TBI include memory, language, executive functions, attention and information processing speed impairments. However, systematic studies on patients with mild TBI are scarce although neuropsychological changes are present. OBJECTIVE: To investigate the cognitive functioning of patients with mild to moderate TBI. METHOD: We evaluated 12 patients with mild to moderate TBI using a comprehensive protocol (PN01 of neuropsychological tests. RESULTS: There were significant deficits of episodic memory including immediate and delayed verbal memory recall, verbal recognition, immediate and delayed visual memory recall, naming, verbal fluency and information processing speed. CONCLUSION: These results emphasize the importance of comprehensive neuropsychological assessments even in cases of mild TBI in order to identify impaired and preserved functions providing adequate managing including rehabilitation programs for each case.

  12. Cutaneous and Subcutaneous Metastases From Atypical Laryngeal Carcinoids

    Science.gov (United States)

    Wang, Kui-Rong; Jia, Yuan-Jing; Zhou, Shui-Hong; Wang, Qin-Ying; Bao, Yang-Yang; Feng, Zhi-Ying; Yao, Hong-Tian; Fan, Jun

    2016-01-01

    Abstract The incidence of cutaneous and subcutaneous metastases from atypical laryngeal carcinoids is approximately 20%. However, the pathogenesis and natural history of, and prognostic factors for, the condition remain poorly understood. We reported a 54-year-old female presented with cutaneous and subcutaneous metastases from atypical laryngeal carcinoid. Laryngoscopy revealed a 0.5 × 1.5-cm reddish mass on the laryngeal surface of the epiglottis. Under general anesthesia, a biopsy sample was obtained via suspension laryngoscopy. Routine pathology revealed atypical laryngeal carcinoid. Immunohistochemical staining of the sections of primary tumor was positive for cytokeratin, chromogranin A, synaptophysin, hypoxia-inducible factor-1α, P53, and CD56. GLUT-1, p-Akt, and PI3K were negative. The Ki-67 index was 15%. Supraglottic laryngectomy and selective right-neck dissection were performed. After 6 months, the patient complained of pain in the right wall of the chest; multiple cutaneous and subcutaneous nodules were evident at that site and in the abdomen. An abdominal nodule was biopsied and pathology revealed that the atypical metastatic carcinoid had metastasized to both cutaneous and subcutaneous areas of the abdomen. Chemotherapy was then prescribed. Currently, the intrathecal drug delivery system remains in place. No local recurrence has been detected. Furthermore, we systematically reviewed clinical manifestations of the disease, pathogenesis, prognostic factors, and treatment. The metastasis rate (cutaneous and subcutaneous) was approximately 12.2%. Thirty patients (62.5%) with cutaneous and subcutaneous metastases exhibited contemporaneous lymph node invasion. The 3-, 5-, and 10-year survival rates were 44.0%, 22.0%, and 13.0%, respectively. The prognosis of patients with atypical laryngeal carcinoids was poor. Relevant prognostic factors included the level of p53, human papilloma virus status, certain hypoxic markers, and distant metastasis. No

  13. Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.

    Science.gov (United States)

    Rubio-Agusti, Ignacio; Kojovic, Maja; Edwards, Mark J; Murphy, Elaine; Chandrashekar, Hoskote S; Lachmann, Robin H; Bhatia, Kailash P

    2012-12-01

    Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of cholesterol metabolism. It presents with systemic and neurological symptoms, rarely including parkinsonism. Presented here are a clinical description of a new family with cerebrotendinous xanthomatosis and parkinsonism and a review of 13 additional cases reported in the literature. The index case developed corticobasal syndrome, previously not reported in cerebrotendinous xanthomatosis. His brother had parkinsonism with cerebellar features and cognitive impairment. In a literature review, median age of onset of parkinsonism was found to be 40 years. Nearly all patients had other neurological symptoms: cognitive (93%), pyramidal (93%), or cerebellar (53%). All patients had walking difficulties, with falls in 27%. Systemic features were common: cataracts (93%) or tendon xanthomata (87%). Frequent MRI abnormalities included cerebellar atrophy (100%), cerebral atrophy (80%), and dentate nuclei signal changes (80%). Functional dopaminergic imaging often demonstrated presynaptic denervation. Improvement with levodopa was frequent (91%) but mild. Progressive neurological decline occurred in 92% of patients despite treatment with chenodeoxycholic acid. Cerebrotendinous xanthomatosis should be considered in the differential diagnosis of atypical parkinsonism, including corticobasal syndrome, particularly with early age of onset and in the context of a complex neurological phenotype. Tendon xanthomata, early-onset cataracts, and radiological findings of cerebellar atrophy with lesions of the dentate nuclei are useful clinical clues. Symptomatic treatment with levodopa may help, but progressive neurological decline is frequent despite treatment with chenodeoxycholic acid.

  14. Characterisation of atypical enteropathogenic E. coli strains of clinical origin

    Directory of Open Access Journals (Sweden)

    Tennant Sharon M

    2009-06-01

    Full Text Available Abstract Background Enteropathogenic E. coli (EPEC is a prominent cause of diarrhoea, and is characterised in part by its carriage of a pathogenicity island: the locus for enterocyte effacement (LEE. EPEC is divided into two subtypes according to the presence of bundle-forming pili (BFP, a fimbrial adhesin that is a virulence determinant of typical EPEC (tEPEC, but is absent from atypical EPEC (aEPEC. Because aEPEC lack BFP, their virulence has been questioned, as they may represent LEE-positive Shiga toxin-producing E. coli (STEC that have lost the toxin-encoding prophage, or tEPEC that have lost the genes for BFP. To determine if aEPEC isolated from humans in Australia or New Zealand fall into either of these categories, we undertook phylogenetic analysis of 75 aEPEC strains, and compared them with reference strains of EPEC and STEC. We also used PCR and DNA hybridisation to determine if aEPEC carry virulence determinants that could compensate for their lack of BFP. Results The results showed that aEPEC are highly heterogeneous. Multilocus sequence typing revealed that 61 of 75 aEPEC strains did not belong to known tEPEC or STEC clades, and of those that did, none expressed an O:H serotype that is frequent in tEPEC or STEC strains associated with disease. PCR for each of 18 known virulence-associated determinants of E. coli was positive in less than 15% of strains, apart from NleB which was detected in 30%. Type I fimbriae were expressed by all aEPEC strains, and 12 strains hybridised with DNA probes prepared from either bfpA or bfpB despite being negative in the PCR for bfpA. Conclusion Our findings indicate that clinical isolates of aEPEC obtained from patients in Australia or New Zealand are not derived from tEPEC or STEC, and suggest that functional equivalents of BFP and possibly type I fimbriae may contribute to the virulence of some aEPEC strains.

  15. The ability of haemolysins expressed by atypical enteropathogenic Escherichia coli to bind to extracellular matrix components

    Directory of Open Access Journals (Sweden)

    Caroline A Magalhães

    2011-03-01

    Full Text Available Typical and atypical enteropathogenic Escherichia coli (EPEC are considered important bacterial causes of diarrhoea. Considering the repertoire of virulence genes, atypical EPEC (aEPEC is a heterogeneous group, harbouring genes that are found in other diarrheagenic E. coli pathotypes, such as those encoding haemolysins. Haemolysins are cytolytic toxins that lyse host cells disrupting the function of the plasma membrane. In addition, these cytolysins mediate a connection to vascular tissue and/or blood components, such as plasma and cellular fibronectin. Therefore, we investigated the haemolytic activity of 72 aEPEC isolates and determined the correlation of this phenotype with the presence of genes encoding enterohaemolysins (Ehly and cytolysin A (ClyA. In addition, the correlation between the expression of haemolysins and the ability of these secreted proteins to adhere to extracellular matrix (ECM components was also assessed in this study. Our findings demonstrate that a subset of aEPEC presents haemolytic activity due to the expression of Ehlys and/or ClyA and that this activity is closely related to the ability of these isolates to bind to ECM components.

  16. A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis.

    Science.gov (United States)

    Shimizu, Takeru; Fukuda, Taeko; Inomata, Shinichi; Satsumae, Tsuyoshi; Tanaka, Makoto

    2011-04-01

    Alveolar capillary dysplasia (ACD), which is a rare and lethal congenital pulmonary anomaly found in newborns, begins its onset or causes deterioration of the infant's condition some time after birth. Various congenital anomalies in combination with ACD have been reported, except for subglottic stenosis. Therefore, we aim to report a novel association in a case of ACD with the combination of atypical duodenal atresia and subglottic stenosis. The male infant was scheduled for duodeno-duodenostomy because a double-bubble sign was observed on a chest radiograph. He arrived at the operating theater without any symptoms. After induction of general anesthesia, although mask ventilation was performed without difficulties throughout the entire procedure, oxygen saturation values of the upper and lower extremities dissociated after several attempts of intubation. Surgery was canceled because of instability of the respiratory condition. Respiratory insufficiency worsened progressively, and the infant died at 5 days of age. An autopsy confirmed ACD and revealed cartilaginous subglottic stenosis, which had made intubation difficult. This report highlights the hazards of the onset and worsening of ACD, and the importance of thorough echocardiography before surgery when atypical duodenal atresia is suspected. Anesthesiologists should also be prepared for the difficulty of intubation.

  17. Atypical balance between occipital and fronto-parietal activation for visual shape extraction in dyslexia.

    Directory of Open Access Journals (Sweden)

    Ying Zhang

    Full Text Available Reading requires the extraction of letter shapes from a complex background of text, and an impairment in visual shape extraction would cause difficulty in reading. To investigate the neural mechanisms of visual shape extraction in dyslexia, we used functional magnetic resonance imaging (fMRI to examine brain activation while adults with or without dyslexia responded to the change of an arrow's direction in a complex, relative to a simple, visual background. In comparison to adults with typical reading ability, adults with dyslexia exhibited opposite patterns of atypical activation: decreased activation in occipital visual areas associated with visual perception, and increased activation in frontal and parietal regions associated with visual attention. These findings indicate that dyslexia involves atypical brain organization for fundamental processes of visual shape extraction even when reading is not involved. Overengagement in higher-order association cortices, required to compensate for underengagment in lower-order visual cortices, may result in competition for top-down attentional resources helpful for fluent reading.

  18. Recent evidence and potential mechanisms underlying weight gain and insulin resistance due to atypical antipsychotics

    Directory of Open Access Journals (Sweden)

    Ana Maria Volpato

    2013-09-01

    Full Text Available Objective: Atypical antipsychotics (AAPs promote obesity and insulin resistance. In this regard, the main objective of this study was to present potential mechanisms and evidence concerning side effects of atypical antipsychotics in humans and rodents. Method: A systematic review of the literature was performed using the MEDLINE database. We checked the references of selected articles, review articles, and books on the subject. Results: This review provides consistent results concerning the side effects of olanzapine (OL and clozapine (CLZ, whereas we found conflicting results related to other AAPs. Most studies involving humans describe the effects on body weight, adiposity, lipid profile, and blood glucose levels. However, it seems difficult to identify an animal model replicating the wide range of changes observed in humans. Animal lineage, route of administration, dose, and duration of treatment should be carefully chosen for the replication of the findings in humans. Conclusions: Patients undergoing treatment with AAPs are at higher risk of developing adverse metabolic changes. This increased risk must be taken into account when making decisions about treatment. The influence of AAPs on multiple systems is certainly the cause of such effects. Specifically, muscarinic and histaminergic pathways seem to play important roles.

  19. Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

    Science.gov (United States)

    Kim, Soo Yeon; Choi, Sun Ah; Lee, Sangmoon; Lee, Jin Sook; Hong, Che Ry; Lim, Byung Chan; Kang, Hyoung Jin; Kim, Ki Joong; Park, Sung-Hye; Choi, Murim; Chae, Jong-Hee

    2016-11-01

    Farber disease is a very rare autosomal recessive disease caused by mutation of ASAH1 that results in the accumulation of ceramide in various tissues. Clinical symptoms of classic Farber disease comprise painful joint deformity, hoarseness of voice, and subcutaneous nodules. Here, we describe a patient with Farber disease with atypical presentation of early onset hypotonia, sacral mass, congenital heart disease, and dysmorphic face since birth. Severe cognitive disability, failure to gain motor skills, failure to thrive, and joint contractures developed. Using whole-exome sequencing, we identified the compound heterozygote missense mutations of ASAH1 (p.R333C and p.G235R). Because of the diagnostic delay, she underwent sacral mass excision, which revealed enlarged lysosomes and zebra bodies. We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge. We also discuss the clinical utility of whole-exome sequencing for diagnosis of ultra-rare diseases. © 2016 Wiley Periodicals, Inc.

  20. [Diagnosis and treatment of heparin-induced thrombocytopenia (HIT) based on its atypical immunological features].

    Science.gov (United States)

    Miyata, Shigeki; Maeda, Takuma

    2016-03-01

    Heparin-induced thrombocytopenia (HIT) is a prothrombotic side effect of heparin therapy caused by HIT antibodies, i.e., anti-platelet factor 4 (PF4)/heparin IgG with platelet-activating properties. For serological diagnosis, antigen immunoassays are commonly used worldwide. However, such assays do not indicate their platelet-activating properties, leading to low specificity for the HIT diagnosis. Therefore, over-diagnosis is currently the most serious problem associated with HIT. The detection of platelet-activating antibodies using a washed platelet activation assay is crucial for appropriate HIT diagnosis. Recent advances in our understanding of the pathogenesis of HIT include it having several clinical features atypical for an immune-mediated disease. Heparin-naïve patients can develop IgG antibodies as early as day 4, as in a secondary immune response. Evidence for an anamnestic response on heparin re-exposure is lacking. In addition, HIT antibodies are relatively short-lived, unlike those in a secondary immune response. These lines of evidence suggest that the mechanisms underlying HIT antibody formation may be compatible with a non-T cell-dependent immune reaction. These atypical clinical and serological features should be carefully considered while endeavoring to accurately diagnose HIT, which leads to appropriate therapies such as immediate administration of an alternative anticoagulant to prevent thromboembolic events and re-administration of heparin during surgery involving cardiopulmonary bypass when HIT antibodies are no longer detectable.

  1. Chronic Recurrent Multifocal Osteomyelitis Causing an Acute Scoliosis

    Directory of Open Access Journals (Sweden)

    Alexander Armstrong

    2013-01-01

    Full Text Available Study Design. A Case Report. Objective. We present a 15-year-old girl with an acute atypical scoliosis secondary to chronic recurrent multifocal osteomyelitis (CRMO. Summary of Background Data. CRMO is a rare nonpyogenic inflammatory bone condition with unclear aetiology. CRMO mainly affects the metaphyses of long bones, the pelvis, shoulder girdle, and less commonly the spine. Methods. Our case presented with a 6-month history of worsening thoracic back pain, asymmetry of her shoulders and abnormal posture. Whole spine radiographs revealed a right atypical thoracic scoliosis. Magnetic Resonance Imaging showed abnormal signal on the short TI inversion recovery (STIR sequences in multiple vertebrae. A bone biopsy demonstrated evidence of fibrosis and chronic inflammatory changes. Interval MRI scans revealed new oedematous lesions and disappearance of old lesions. Symptoms improved. Results. It is important to consider CRMO as an acute cause of atypical scoliosis. Malignancy, pyogenic infections and atypical presentations of juvenile arthritis need excluding. Conclusion. This 24-month follow-up describes a rare cause of an atypical scoliosis and fortifies the small amount of the currently available literature. The case highlights the relapsing and remitting nature of CRMO with new lesions developing and older lesions burning out. We advise close radiological surveillance and symptomatic management.

  2. Neuropsychological function following mild exposure to pentaborane

    Energy Technology Data Exchange (ETDEWEB)

    Hart, R.P.; Silverman, J.J.; Garrettson, L.K.; Schulz, C.; Hamer, R.M.

    1984-01-01

    Neuropsychological tests and self-report personality inventories were administered to 14 workers and rescue squad personnel approximately 2 months following mild exposure to pentaborane, a highly toxic volatile liquid boron hydride. Performance decrements were evident on 5 of 11 neuropsychological tests, including Block Design and measures of sustained attention and recent memory. Neuropsychological deficits were not related to emotional changes reported on the Hopkins Symptom Checklist nor to the presence of CT scan abnormality. These results indicate mild residual brain dysfunction following pentaborane intoxication, including possible dysfunction in subcortical regions mediating memory processes and in cortical areas mediating visuo-spatial abilities.

  3. Adult-onset Still's disease with atypical cutaneous manifestations

    Science.gov (United States)

    Narváez Garcia, Francisco Javier; Pascual, María; López de Recalde, Mercè; Juarez, Pablo; Morales-Ivorra, Isabel; Notario, Jaime; Jucglà, Anna; Nolla, Joan M.

    2017-01-01

    Abstract The diagnosis of adult-onset Still's disease (AOSD) can be very difficult. There are no specific tests available, and diagnosis is usually based on a symptom complex and the well-described typical evanescent rash seen in the majority of patients. However, in recent years, other atypical cutaneous manifestations of AOSD have been reported. These atypical skin eruptions often present in addition to the typical evanescent rash but may also be the only skin manifestation, resulting in delayed diagnosis because of under-recognition. In this study, we present 3 new cases of AOSD with atypical cutaneous manifestations diagnosed during a 30-year period in our department and review 78 additional cases previously reported (PubMed 1990–2016). These 81 patients form the basis of the present analysis. The overall prevalence of atypical cutaneous manifestations in our AOSD population was 14%. These manifestations may appear at any time over the course of the disease, and usually occur in patients who have persistent and severe disease, with a considerable frequency of clinical complications (23%), including serositis, myopericarditis, lung involvement, abdominal pain, neurologic involvement, and reactive hemophagocytic syndrome. The most representative and frequent lesion among the nonclassical skin rashes is the development of persistent pruritic papules and/or plaques. Interestingly, these lesions show a distinctive histological pattern. Other, less frequently observed lesions include urticaria and urticaria-like eruptions, generalized or widespread non-pruritic persistent erythema, vesiculopustular eruptions, a widespread peau d’orange appearance of the skin, and edema of the eyelids mimicking dermatomyositis without any accompanying skin lesion. The great majority of these patients required medium or high doses of glucocorticoids (including intravenous methylprednisolone pulse therapy in some cases) and, in nearly 40%, a more potent or maintenance immunotherapy

  4. Mild hypoxia affects synaptic connectivity in cultured neuronal networks.

    Science.gov (United States)

    Hofmeijer, Jeannette; Mulder, Alex T B; Farinha, Ana C; van Putten, Michel J A M; le Feber, Joost

    2014-04-01

    Eighty percent of patients with chronic mild cerebral ischemia/hypoxia resulting from chronic heart failure or pulmonary disease have cognitive impairment. Overt structural neuronal damage is lacking and the precise cause of neuronal damage is unclear. As almost half of the cerebral energy consumption is used for synaptic transmission, and synaptic failure is the first abrupt consequence of acute complete anoxia, synaptic dysfunction is a candidate mechanism for the cognitive deterioration in chronic mild ischemia/hypoxia. Because measurement of synaptic functioning in patients is problematic, we use cultured networks of cortical neurons from new born rats, grown over a multi-electrode array, as a model system. These were exposed to partial hypoxia (partial oxygen pressure of 150Torr lowered to 40-50Torr) during 3 (n=14) or 6 (n=8) hours. Synaptic functioning was assessed before, during, and after hypoxia by assessment of spontaneous network activity, functional connectivity, and synaptically driven network responses to electrical stimulation. Action potential heights and shapes and non-synaptic stimulus responses were used as measures of individual neuronal integrity. During hypoxia of 3 and 6h, there was a statistically significant decrease of spontaneous network activity, functional connectivity, and synaptically driven network responses, whereas direct responses and action potentials remained unchanged. These changes were largely reversible. Our results indicate that in cultured neuronal networks, partial hypoxia during 3 or 6h causes isolated disturbances of synaptic connectivity.

  5. Bilateral atypical femoral subtrochanteric fractures in a premenopausal patient receiving prolonged bisphosphonate therapy: evidence of severely suppressed bone turnover.

    Science.gov (United States)

    Kondo, Naoki; Yoda, Takuya; Fujisawa, Junichi; Arai, Katsumitsu; Sakuma, Mayumi; Ninomiya, Hiroshi; Sano, Hiroshige; Endo, Naoto

    2015-01-01

    We report a case of bilateral atypical femoral fractures that occurred in a patient who had been taking bisphosphonate long-term. A 36-year-old premenopausal female diagnosed with systemic lupus erythematosus and dermatomyositis had been treated with glucocorticoid and alendronate (5 mg/day) to prevent glucocorticoid-induced osteoporosis. She was taken to our hospital because she could not walk immediately after falling down from the standing position. A plain radiograph showed a subtrochanteric fracture of the left femur. Four months later, she fell again and sustained a contralateral subtrochanteric fracture. For each fracture, a femoral intramedullary nail was inserted. Delayed union was detected in both sides, and revision surgery with an iliac bone graft was required for implant breakage in the right side. Histomorphometric findings for the ilium revealed remarkably decreased osteoid volume with no osteoclasts and a minimally eroded surface, suggesting that bone turnover was severely suppressed. However, histology of the delayed union site revealed callus formation and some osteoclast appearance, suggesting that fracture healing was occurring. In total, it took 29 months (left) and 24 months (right) until fracture healing was achieved, showing delayed union. This case is extremely rare in that patient who presented with atypical femoral fractures in spite of her premenopausal status. The bone histomorphometric findings from this case suggest that severely suppressed bone turnover is associated with atypical femoral subtrochanteric fracture and can cause delayed union in patients treated with alendronate long-term.

  6. Bovine PrP expression levels in transgenic mice influence transmission characteristics of atypical bovine spongiform encephalopathy.

    Science.gov (United States)

    Wilson, Rona; Hart, Patricia; Piccardo, Pedro; Hunter, Nora; Casalone, Cristina; Baron, Thierry; Barron, Rona M

    2012-05-01

    Until recently, transmissible spongiform encephalopathy (TSE) disease in cattle was thought to be caused by a single agent strain, bovine spongiform encephalopathy (BSE) (classical BSE or BSE-C). However, due to the initiation of a large-scale surveillance programme throughout Europe, two atypical BSE strains, bovine amyloidotic spongiform encephalopathy (BASE, also named BSE-L) and BSE-H have since been discovered. These atypical BSE isolates have been previously transmitted to a range of transgenic mouse models overexpressing PrP from different species at different levels, on a variety of genetic backgrounds. To control for genetic background and expression level in the analysis of these isolates, we performed here a comprehensive comparison of the neuropathological and molecular properties of all three BSE agents (BASE, BSE-C and BSE-H) upon transmission into the same gene-targeted transgenic mouse line expressing the bovine prion protein (Bov6) and a wild-type control of the same genetic background. Significantly, upon challenge with these BSE agents, we found that BASE did not produce shorter survival times in these mice compared with BSE-C, contrary to previous studies using overexpressing bovine transgenic mice. Amyloid plaques were only present in mice challenged with atypical BSE and neuropathological features, including intensity of PrP deposition in the brain and severity of vacuolar degeneration were less pronounced in BASE compared with BSE-C-challenged mice.

  7. The effects of typical and atypical antipsychotics on the electrical activity of the brain in a rat model

    Directory of Open Access Journals (Sweden)

    Oytun Erbaş

    2013-09-01

    Full Text Available Objective: Antipsychotic drugs are known to have strongeffect on the bioelectric activity in the brain. However,some studies addressing the changes on electroencephalography(EEG caused by typical and atypical antipsychoticdrugs are conflicting. We aimed to compare the effectsof typical and atypical antipsychotics on the electricalactivity in the brain via EEG recordings in a rat model.Methods: Thirty-two Sprague Dawley adult male ratswere used in the study. The rats were divided into fivegroups, randomly (n=7, for each group. The first groupwas used as control group and administered 1 ml/kg salineintraperitoneally (IP. Haloperidol (1 mg/kg (group 2,chlorpromazine (5 mg/kg (group 3, olanzapine (1 mg/kg(group 4, ziprasidone (1 mg/ kg (group 5 were injectedIP for five consecutive days. Then, EEG recordings ofeach group were taken for 30 minutes.Results: The percentages of delta and theta waves inhaloperidol, chlorpromazine, olanzapine and ziprasidonegroups were found to have a highly significant differencecompared with the saline administration group (p<0.001.The theta waves in the olanzapine and ziprasidonegroups were increased compared with haloperidol andchlorpromazine groups (p<0.05.Conclusion: The typical and atypical antipsychotic drugsmay be risk factor for EEG abnormalities. This studyshows that antipsychotic drugs should be used with caution.J Clin Exp Invest 2013; 4 (3: 279-284Key words: Haloperidol, chlorpromazine, olanzapine,ziprasidone, EEG, rat

  8. Magnetic field in atypical prominence structures: Bubble, tornado and eruption

    CERN Document Server

    Levens, P J; Ariste, A López; Labrosse, N; Dalmasse, K; Gelly, B

    2016-01-01

    Spectropolarimetric observations of prominences have been obtained with the THEMIS telescope during four years of coordinated campaigns. Our aim is now to understand the conditions of the cool plasma and magnetism in `atypical' prominences, namely when the measured inclination of the magnetic field departs, to some extent, from the predominantly horizontal field found in `typical' prominences. What is the role of the magnetic field in these prominence types? Are plasma dynamics more important in these cases than the magnetic support? We focus our study on three types of `atypical' prominences (tornadoes, bubbles and jet-like prominence eruptions) that have all been observed by THEMIS in the He I D_3 line, from which the Stokes parameters can be derived. The magnetic field strength, inclination and azimuth in each pixel are obtained by using the Principal Component Analysis inversion method on a model of single scattering in the presence of the Hanle effect. The magnetic field in tornadoes is found to be more ...

  9. Nightmare-Induced Atypical Midventricular Tako-Tsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Veronica Fibbi

    2015-01-01

    Full Text Available Tako-Tsubo cardiomyopathy (TTC is a reversible cardiomyopathy characterized by acute left ventricular segmental dysfunction, whose clinical presentation resembles that of acute myocardial infarction. The syndrome often follows a psychophysical stressful event and is characterized by echocardiographic evidence of akinesia of the left ventricular mid-apical segments. Atypical echocardiographic patterns of TTC have recently been described, often triggered by emotional stressors, rather than physical. In this report, we describe a case of atypical TTC triggered by an unusual stressor (recurrent nightmare in a 45-year-old woman, with peculiar clinical presentation and evolution characterized by persistent loss of consciousness, neurological deterioration, absence of typical symptoms of TTC, and features suggestive of a hysterical crisis.

  10. Nightmare-induced atypical midventricular tako-tsubo cardiomyopathy.

    Science.gov (United States)

    Fibbi, Veronica; Ballo, Piercarlo; Nannini, Marco; Consoli, Lorenzo; Chechi, Tania; Bribani, Andrea; Fiorentino, Francesca; Chiodi, Leandro; Zuppiroli, Alfredo

    2015-01-01

    Tako-Tsubo cardiomyopathy (TTC) is a reversible cardiomyopathy characterized by acute left ventricular segmental dysfunction, whose clinical presentation resembles that of acute myocardial infarction. The syndrome often follows a psychophysical stressful event and is characterized by echocardiographic evidence of akinesia of the left ventricular mid-apical segments. Atypical echocardiographic patterns of TTC have recently been described, often triggered by emotional stressors, rather than physical. In this report, we describe a case of atypical TTC triggered by an unusual stressor (recurrent nightmare) in a 45-year-old woman, with peculiar clinical presentation and evolution characterized by persistent loss of consciousness, neurological deterioration, absence of typical symptoms of TTC, and features suggestive of a hysterical crisis.

  11. Multiplicity of A-type and related stars

    CERN Document Server

    North, Pierre L

    2013-01-01

    The origin of chemically peculiar stars remains enigmatic, especially regarding their frequency among their "normal" peers. In addition to magnetic fields and rotation, multiplicity may shed light on the question. We mention the main surveys of the three kinds performed so far of intermediate mass stars, either normal or chemically peculiar, magnetic or not: imaging, spectroscopic, and photometric. We also consider the mulitiplicity of red giant stars, since many of them are descendants of A-type stars, through Mermilliod's radial velocity monitoring of open cluster members. We briefly review the orbital properties of binary systems hosting chemically peculiar stars. Some specific objects of special interest are mentioned as deserving further study. Finally, we recall that some binary systems composed of A-type stars are progenitors of Type Ia supernovae, and evoke the potentialities of future surveys like Gaia.

  12. Diagnosis and management of typical and atypical lung carcinoids.

    Science.gov (United States)

    Pusceddu, Sara; Lo Russo, Giuseppe; Macerelli, Marianna; Proto, Claudia; Vitali, Milena; Signorelli, Diego; Ganzinelli, Monica; Scanagatta, Paolo; Duranti, Leonardo; Trama, Annalisa; Buzzoni, Roberto; Pelosi, Giuseppe; Pastorino, Ugo; de Braud, Filippo; Garassino, Marina Chiara

    2016-04-01

    An estimated 20% to 30% of all neuroendocrine tumours originate in the bronchial tree and lungs. According to the 2015 World Health Organization categorization, these tumours are separated into four subtypes characterized by increasing biological aggressiveness: typical carcinoid, atypical carcinoid, large-cell neuroendocrine carcinoma and small-cell carcinoma. Although typical and atypical lung carcinoids account for less than 1-5% of all pulmonary malignancies, the incidence of these neoplasms has risen significantly in recent decades. Surgery is the treatment of choice for loco-regional disease but for advanced lung carcinoids there is no recognized standard of care and successful management requires a multidisciplinary approach. The aim of this review is to provide a useful guide for the clinical management of lung carcinoids.

  13. Acute Zonal Occult Outer Retinopathy with Atypical Findings

    Directory of Open Access Journals (Sweden)

    Dimitrios Karagiannis

    2014-01-01

    Full Text Available Background. To report a case of acute zonal occult outer retinopathy (AZOOR with atypical electrophysiology findings. Case Presentation. A 23-year-old-female presented with visual acuity deterioration in her right eye accompanied by photopsia bilaterally. Corrected distance visual acuity at presentation was 20/50 in the right eye and 20/20 in the left eye. Fundus examination was unremarkable. Visual field (VF testing revealed a large scotoma. Pattern and full-field electroretinograms (PERG and ERG revealed macular involvement associated with generalized retinal dysfunction. Electrooculogram (EOG light rise and the Arden ratio were within normal limits bilaterally. The patient was diagnosed with AZOOR due to clinical findings, visual field defect, and ERG findings. Conclusion. This is a case of AZOOR with characteristic VF defects and clinical symptoms presenting with atypical EOG findings.

  14. Mild disintegration of green microalgae and macroalgae

    NARCIS (Netherlands)

    Postma, Richard

    2016-01-01

    An increased worldwide protein demand for food and feed and the necessity to release the water soluble proteins in the first stage of the cascade biorefinery require the development of mild protein extraction technologies. Cell disintegration is the first hurdle and is considered as one of the most

  15. Learning Strategies for Adolescents with Mild Disabilities

    Science.gov (United States)

    Conderman, Greg; Koman, Kara; Schibelka, Mary; Higgin, Karen; Cooper, Cody; Butler, Jordyn

    2013-01-01

    Learning strategy instruction is an evidence-based practice for teaching adolescents with mild disabilities. However, researchers have not developed strategies for every content area or skill. Therefore, teachers need to be able develop strategies based on the needs of their students. This article reviews the process for developing and teaching…

  16. Mild hyperthermia influence on Herceptin (R) properties

    NARCIS (Netherlands)

    Escoffre, JM; Deckers, RHR; Sasaki, Noboru; Bos, Clemens; Moonen, Chrit

    2015-01-01

    Background. Mild hyperthermia (mHT) increases the tumor perfusion and vascular permeability, and reduces the interstitial fluid pressure, resulting in better intra-tumoral bioavailability of low molecular weight drugs. This approach is potentially also attractive for delivery of therapeutic macromol

  17. Surgical strategy for mild ischemic mitral insufficiency

    Institute of Scientific and Technical Information of China (English)

    GU Cheng-xiong; WEI Hua; YU Yang

    2010-01-01

    @@ To the Editor: We read with the interest the article by FAN Hong-guang and colleagues~1 having obtained outstanding early and long-term clinical outcomes of left ventricular restoration for the patients with postinfarction ventricular aneurysm and low left ventricular ejection fraction (LVEF) of mean 37.7%. We would like to comment on surgical strategy for mild ischemic mitral insufficiency.

  18. Persistent vertigo and dizziness after mild traumatic brain injury.

    Science.gov (United States)

    Fife, Terry D; Kalra, Deepak

    2015-04-01

    Vertigo, dizziness, and disequilibrium are common symptoms following concussion or mild traumatic brain injury (mTBI). Dizziness and vertigo may be the result of trauma to the peripheral vestibular system or the central nervous system, or, in some cases, may be due to anxiety, depression, or posttraumatic stress disorder; these mechanisms are not mutually exclusive. While most peripheral vestibular disorders can be identified by testing and examination, those without inner-ear causes that have persisting complaints of dizziness and motion sickness are more difficult to understand and to manage. Some of these patients exhibit features compatible with vestibular migraine and may be treated successfully with migraine-preventative medications. This paper reviews the nonotogenic causes of persisting dizziness, the possible mechanisms, and the pathophysiology, as a framework for patient management and for future research.

  19. Myelopathy in adult aortic coarctation: Causes and caveats of an atypical presentation

    Directory of Open Access Journals (Sweden)

    Chandan Mourya

    2016-01-01

    Full Text Available A 57-year-old female presenting with acute-onset paraplegia was referred for magnetic resonance imaging (MRI of cervico-dorsal spine. On MRI, multiple tortuous dilated vessels were noted in the epidural space with long segment cord compression and imaging features of compressive myelopathy. Associated small acute cervico-dorsal epidural hematoma was also noted in the same region. Computed tomography (CT angiography was performed subsequently which revealed post-ductal coarctation of aorta with multiple arterial collaterals in the chest wall and spinal canal. An extensive review of English language literature pertaining to the clinical presentations of adult aortic coarctation revealed only few reports of acute compressive myelopathy due to spinal epidural collateral vessels. Further, presentation at such a late age has not been reported before. In the present case, apart from a hypertrophied anterior spinal artery and perispinal collaterals, an anterior epidural hematoma was an additional important factor in the causation of myelopathy.

  20. Ureterolithiasis: classical and atypical findings on unenhanced helical computed tomography.

    Science.gov (United States)

    Vaswani, Kuldeep K; El-Dieb, Adam; Vitellas, Kenneth M; Bennett, William F; Bova, James G

    2002-03-01

    Evaluation of patients with acute flank pain using helical computed tomography (CT) is a well-accepted, rapid, and safe procedure in the emergency setting. Various primary and secondary signs are described in the literature for evaluation of these patients. Our purpose is to demonstrate both the classical findings associated with ureteral calculi on unenhanced helical CT and atypical findings and potential pitfalls. We also provide readers with a systematic approach to interpreting unenhanced helical CT scans performed for acute flank pain.

  1. Atypical Chronic Myeloid Leukaemia with Trisomy 13: a Case Report

    Institute of Scientific and Technical Information of China (English)

    Guo-yu Hu; Chao-hui Yuan; Kui Tan; Zhen-zhen Chen

    2011-01-01

    ATYPICAL chronic myeloid leukaemia (aCML),which shows both myeloproliferative and myeIodysplastic features,is a type of myeloproliferative/myelodysplastic disease as defined by the World Health Organisation (WHO) classification of the myeloid neoplasms.1 Because of the presence of neutrophilic leukocytosis,aCML may resemble chronic myeIogenous leukemia (CML).However,in contrast with CML,aCML does not have the Philadelphia chromosome or the bcr/abl fusion gene.

  2. Childhood atypical meningioma with perineural spread: MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Wei, Feng-Yu.; Wong, Alex Mun-Ching; Wong, Ho-Fai; Ng, Shu-Hang [Chang Gung Memorial Hospital, Department of Diagnostic Radiology, Kwei-Shan, Tao-Yuan (Taiwan); Wu, Chieh-Tsai [Chang Gung Memorial Hospital, Department of Neurosurgery, Kwei-Shan, Tao-Yuan (Taiwan); Lin, Kuang-Lin [Chang Gung Memorial Hospital, Division of Pediatric Neurology, Kwei-Shan, Tao-Yuan (Taiwan)

    2005-09-01

    Meningiomas are uncommon in children. When they occur, they are frequently associated with neurofibromatosis type 2. Childhood meningiomas are generally large and commonly associated with cyst formation and an unusual location. Perineural tumor spread, occasionally associated with head and neck malignancies, is very rare in meningiomas. We present the MR findings of an atypical meningioma with perineural spread in a 4.5-year-old girl. (orig.)

  3. Epidemiological and genetical differences between classical and atypical scrapie cases

    OpenAIRE

    Lühken, Gesine; Buschmann, Anne; Brandt, Horst; Eiden, Martin; Groschup, Martin; Erhardt, Georg

    2007-01-01

    International audience; The aim of this study was to analyze the epidemiology and prion protein (PrP) genetics in scrapie-affected sheep flocks in Germany. For this purpose, 224 German scrapie cases in sheep diagnosed between January 2002 and February 2006 were classified as classical or atypical scrapie and the amino acids at codons 136, 141, 154 and 171 were determined. Likewise, representative numbers of flock mates were genotyped. Significant epidemiological differences were observed betw...

  4. A CLINICAL AND FOLLOW UP STUDY OF ATYPICAL PSYCHOSES

    Science.gov (United States)

    Singh, Gurmeet; Sachdev, J. S.

    1980-01-01

    SUMMARY Twenty-two cases who fulfilled the criteria of having atypical manifestation at any stage of illness and had minimum follow up of three years were studied in detail. Their family history and follow up was analysed. The findings of the present study suggest that the cases showing admixture of schizophrenic and affective symptoms are probably a variant of affective disorders although a possibility of their being a third independent psychosis cannot be ruled out. PMID:22065727

  5. Atypical presentation of Boerhaave's syndrome as Enterococcal bacterial pericardial effusion.

    Science.gov (United States)

    Saha, Arin; Jarvis, Martin; Thorpe, James A C; O'Regan, David J

    2007-02-01

    Boerhaave's perforation is a serious condition describing spontaneous transmural perforation of the oesophagus. The classical presentation of this condition is vomiting, lower thoracic pain and subcutaneous emphysema. However, the condition often presents atypically and it is important to reach the correct diagnosis quickly. We present the case of a 54-year-old woman with a Boerhaave's perforation that presented as Enterococcal bacterial pericardial effusion.

  6. Face processing in Williams syndrome is already atypical in infancy

    Directory of Open Access Journals (Sweden)

    Dean eD'Souza

    2015-06-01

    Full Text Available Face processing is a crucial socio-cognitive ability. Is it acquired progressively or does it constitute an innately-specified, face-processing module? The latter would be supported if some individuals with seriously impaired intelligence nonetheless showed intact face-processing abilities. Some theorists claim that Williams syndrome (WS provides such evidence since, despite IQs in the 50s, adolescents/adults with WS score in the normal range on standardised face-processing tests. Others argue that atypical neural and cognitive processes underlie WS face-processing proficiencies. But what about infants with WS? Do they start with typical face-processing abilities, with atypicality developing later, or are atypicalities already evident in infancy? We used an infant familiarisation/novelty design and compared infants with WS to healthy controls as well as to a group of infants with DS matched on both mental and chronological age. Participants were familiarised with a schematic face, after which they saw a novel face in which either the features (eye shape were changed or just the configuration of the original features. Configural changes were processed successfully by controls, but not by infants with WS who were only sensitive to featural changes and who showed syndrome-specific profiles different from infants with the other neurodevelopmental disorder. Our findings indicate that theorists can no longer use the case of Williams syndrome to support claims that evolution has endowed the human brain with an independent face-processing module.

  7. Atypical (symplastic) leiomyoma of the uterus--a case report.

    Science.gov (United States)

    Siti-Aishah, M A; Noriah, O; Malini, M N; Zainul-Rashid, M R; Das, S

    2011-01-01

    A 30-year-old, nulliparous woman presented with a history of subfertility. On examination she was found to have uterine fibroid of 28 weeks size of gravid uterus and subsequently laporatomy myomectomy was performed. Multilobulated masses, with diameters ranging from 22 mm to 160 mm were found. Cut sections of the lobulated masses showed whitish whorled cut surface. One of the multilobulated masses had a cystic cavity, measuring 60x50x35 mm(3). Light microscopic findings of the mass with the cystic cavity showed a well-circumscribed cellular tumour composed of cells exhibiting moderate nuclear atypia which were enlarged, nuclei with prominent chromatin clumping and were distributed in areas. Some tumour cells showed large nuclear pseudoinclusions, multinucleated or multilobated tumour giant cells, smudging and few enlarged nucleoli. Mitotic activity was 4 MFs per 10 HPFs. Occasional cells with intracytoplasmic inclusions resembling rhabdoid - like features were seen. There were no atypical mitoses or tumour necroses were noted. Diagnosis of atypical leiomyoma or symplastic leiomyoma was made. Atypical or symplastic leiomyomas are rare in the region of Malaysia and the present case discusses its incidence in younger age, its morphological features along with diagnosis and clinical outcome.

  8. Atypical Findings of Guillain-Barré Syndrome in Children

    Directory of Open Access Journals (Sweden)

    Parvaneh KARIMZADEH

    2012-10-01

    Full Text Available ObjectiveGuillain-Barre syndrome (GBS is an immune-mediated polyneuropathy that occurs mostly after prior infection. The diagnosis of this syndrome is dependent heavily on the history and examination, although cerebrospinal fluid analysis and electrodiagnostic testing usually confirm the diagnosis. This is a retrospective study which was performed to investigate the atypical features of GBS.Materials & MethodsThirty three patients (21/63.6% males and 12/36.4% females with GBS were retrospectively studied and prospectively evaluated at the Child Neurology institute of Mofid Children Hospital of Shahid Beheshti University of Medical Sciences between May 2011 and September 2012.ResultsThe mean age was 5.4 years (range, 1.5-10.5.Twenty one patients (87.9 % had previous history of infections. Eight patients (24.2% admitted with atypical symptoms like upper limb weakness (3%, ptosis (3%, neck stiffness (3%, inability to stand (proximal weakness (9.1%, headache (3% and dysphagia (3%.According to disease process, weakness was ascending in 26 (78.8%, descending in 5 (15.2% and static in 2 (6.1% patients. Cranial nerve involvement was found in 8(24.3% children, most commonly as facial palsy in 3 (9.1%.ConclusionIn this study, 24.3% of our patients presented with atypical symptoms of GBS as upper limb weakness, ptosis, neck stiffness, inability to stand (proximal weakness, headache and dysphagia

  9. Tardive dyskinesia in children treated with atypical antipsychotic medications.

    Science.gov (United States)

    Wonodi, Ikwunga; Reeves, Gloria; Carmichael, Dana; Verovsky, Ilene; Avila, Matthew T; Elliott, Amie; Hong, L Elliot; Adami, Helene M; Thaker, Gunvant K

    2007-09-15

    Recent years have witnessed increased antipsychotic treatment of children despite limited long-term safety data in children. In this study, motor side effects associated with the use of antipsychotic drugs in children were examined in a sample of pediatric psychiatric patients. Child and adolescent psychiatric patients receiving antipsychotics (most were on atypicals) for 6 months or longer (n = 118) were compared with antipsychotic-naïve patients (n = 80) with similar age, sex ratio, and diagnoses. Only 19% of patients on antipsychotics had ever experienced psychotic symptoms. Eleven children (9%) on antipsychotics exhibited dyskinesia, when compared with 0 in the naïve group (P = 0.003, Fisher's exact test). Nine of 62 African-American children (15%) on antipsychotics exhibited dyskinesia, when compared with only 4% (2 of 52) of European-American children (P = 0.003, Fisher's exact test). Children treated with antipsychotic drugs might experience a significant risk of dyskinesia even when treated only with atypical antipsychotics. Ethnicity might also be a risk factor for dyskinesia in children. Side-effect profile of the atypical antipsychotic drugs in children may be much different than that in adults.

  10. Stiripentol in atypical absence seizures in children: an open trial.

    Science.gov (United States)

    Farwell, J R; Anderson, G D; Kerr, B M; Tor, J A; Levy, R H

    1993-01-01

    Stiripentol (STP) was added to the antiepileptic drug (AED) regimen of 10 patients with uncontrolled atypical absence seizures (more than one seizure a day). Seven boys and three girls aged 6-16 years participated in the study. Concomitant AEDs included various combinations of phenobarbital (PB), phenytoin (PHT), carbamazepine (CBZ), and valproate (VPA). Parents counted daily seizures over a 4-week baseline period before institution of STP, and in a 20-week period during STP therapy. To compensate for drug interactions, doses of other AEDs were adjusted during STP administration to keep serum levels close to levels of the baseline period. Maintenance doses of STP were 1,000-3,000 mg/day, giving serum levels of 4-22 micrograms/mL. All patients experienced a decrease in atypical absence seizures. Average decrease was 70% (range 5-95%). Side effects experienced by some patients were dose related and included anorexia, nausea, vomiting, and lethargy. In only 1 patient did an adverse effect (vomiting) require discontinuation of STP. We conclude that STP shows promise in treatment of atypical absence seizures in children, and further trials are warranted.

  11. Atypical centromeres in plants – what they can tell us

    Directory of Open Access Journals (Sweden)

    Maria eCuacos

    2015-10-01

    Full Text Available The centromere, visible as the primary constriction of condensed metaphase chromosomes, is a defined chromosomal locus essential for genome stability. It mediates transient assembly of a multi-protein complex, the kinetochore, which enables interaction with spindle fibers and thus faithful segregation of the genetic information during nuclear divisions. Centromeric DNA varies in extent and sequence composition among organisms, but a common feature of almost all active eukaryotic centromeres is the presence of the centromeric histone H3 variant cenH3 (a.k.a. CENP-A.These typical centromere features apply to most studied species. However, a number of species display atypical centromeres, such as holocentromeres (centromere extension along almost the entire chromatid length or neocentromeres (ectopic centromere activity.In this review, we provide an overview of different atypical centromere types found in plants including holocentromeres, de novo formed centromeres and terminal neocentromeres as well as di-, tri- and metapolycentromeres (more than one centromere per chromosomes. We discuss their specific and common features and compare them to centromere types found in other eukaryotic species. We also highlight new insights into centromere biology gained in plants with atypical centromeres such as distinct mechanisms to define a holocentromere, specific adaptations in species with holocentromeres during meiosis or various scenarios leading to neocentromere formation.

  12. An inherited LMNA gene mutation in atypical Progeria syndrome.

    Science.gov (United States)

    Doubaj, Yassamine; De Sandre-Giovannoli, Annachiara; Vera, Esteves-Vieira; Navarro, Claire Laure; Elalaoui, Siham Chafai; Tajir, Mariam; Lévy, Nicolas; Sefiani, Abdelaziz

    2012-11-01

    Hutchinson-Gilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA). Besides "typical HGPS," several "atypical progeria" syndromes (APS) have been described, in a clinical spectrum ranging from mandibuloacral dysplasia to atypical Werner syndrome. These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, and in some cases severe atherosclerosis with metabolic complications. APS are due in several cases to de novo heterozygous LMNA mutations other than the p.Gly608Gly, or due to homozygous BAFN1 mutations in Nestor-Guillermo Progeria syndrome (NGPS). We report here and discuss the observation of a non-consanguineous Moroccan patient presenting with atypical progeria. The molecular studies showed the heterozygous mutation c.412G>A (p.Glu138Lys) of the LMNA gene. This mutation, previously reported as a de novo mutation, was inherited from the apparently healthy father who showed a somatic cell mosaicism.

  13. Paranoid personality masking an atypical case of frontotemporal dementia.

    Science.gov (United States)

    Iroka, Nneka; Jehangir, Waqas; Ii, Jay Littlefield; Pattan, Vishwanath; Yousif, Abdalla; Mishra, Arunesh K

    2015-05-01

    Frontotemporal dementia (FTD) is a debilitating disease that is well described in the "Diagnostic and statistical manual of mental disorders, fifth edition (DSM-5)", and typically presents with memory impairment, progressive decline in cortical functioning, and behavioral changes. Age of onset is generally in the late fifties, and usually the first presentation involves a change in behavior and emotional blunting. Treatment of FTD involves management of any neurobehavioral symptoms while trials of atypical antipsychotics are ongoing but suggest some efficacy. We present a case of a patient who first presented with severe paranoid personality traits and frank persecutory delusions. This atypical presentation of our patient first led to her incorrect diagnosis of a psychotic disorder and paranoid personality disorder. As a result of this diagnosis, she was treated unsuccessfully. A subsequent magnetic resonance imaging (MRI) then showed atrophy of frontal and temporal lobes bilaterally (left more prominent than right) which confirmed the diagnosis of FTD. The importance of this case involves the atypical presentation of paranoia and delusions, and our patient's incorrect diagnosis based on her clinical presentation led to a trial of unsuccessful treatment. Only after performing an MRI, which showed atrophy, was the patient appropriately treated and deemed medically stable. This case report illustrates the importance of considering a rare presentation of frontotemporal lobe dementia with patients who are in the typical age range and present with paranoia and delusions.

  14. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.

    Science.gov (United States)

    Wada, Taizo; Yasui, Masahiro; Toma, Tomoko; Nakayama, Yuko; Nishida, Mika; Shimizu, Masaki; Okajima, Michiko; Kasahara, Yoshihito; Koizumi, Shoichi; Inoue, Masami; Kawa, Keisei; Yachie, Akihiro

    2008-09-01

    X-linked severe combined immunodeficiency (XSCID) is caused by mutations of the common gamma chain (gammac) and usually characterized by the absence of T and natural killer (NK) cells. Here, we report an atypical case of XSCID presenting with autologous T and NK cells and Omenn syndrome-like manifestations. The patient carried a splice-site mutation (IVS1+5G>A) that caused most of the mRNA to be incorrectly spliced but produced normally spliced transcript in lesser amount, leading to residual gammac expression and development of T and NK cells. The skin biopsy specimen showed massive infiltration of revertant T cells. Those T cells were found to have a second-site mutation and result in complete restoration of correct splicing. These findings suggest that the clinical spectrum of XSCID is quite broad and includes atypical cases mimicking Omenn syndrome, and highlight the importance of revertant mosaicism as a possible cause for variable phenotypic expression.

  15. Weeding atypical glandular cell look-alikes from the true atypical lesions in liquid-based Pap tests: a review.

    Science.gov (United States)

    Wood, Moira D; Horst, Julie A; Bibbo, Marluce

    2007-01-01

    The purpose of this review is to identify features that separate atypical glandular cells (AGC) associated with glandular neoplasia from its mimickers, both benign and neoplastic. We reviewed cases of AGC diagnosed on liquid-based Pap tests (LBP) for which corresponding histological follow-up was available. A review of the literature for similar studies in LBP tests was also conducted. We find that certain benign mimics can be reliably separated from AGC, but recommend caution in attempting to increase specificity at the risk of losing sensitivity. Although accounting for only a small percentage of diagnoses AGC require a thorough clinical evaluation, including colposcopy. Most cases are ultimately found to be benign. When evaluating smears suspicious for AGC, it is important to examine the subtle features which make truly atypical cells discernible from their numerous benign mimickers.

  16. Evidence for Broadening Criteria for Atypical Depression Which May Define a Reactive Depressive Disorder

    Directory of Open Access Journals (Sweden)

    Brett Silverstein

    2015-01-01

    Full Text Available Objective. Arguing that additional symptoms should be added to the criteria for atypical depression. Method. Published research articles on atypical depression are reviewed. Results. (1 The original studies upon which the criteria for atypical depression were based cited fatigue, insomnia, pain, and loss of weight as characteristic symptoms. (2 Several studies of DSM depressive criteria found patients with atypical depression to exhibit high levels of insomnia, fatigue, and loss of appetite/weight. (3 Several studies have found atypical depression to be comorbid with headaches, bulimia, and body image issues. (4 Most probands who report atypical depression meet criteria for “somatic depression,” defined as depression associated with several of disordered eating, poor body image, headaches, fatigue, and insomnia. The gender difference in prevalence of atypical depression results from its overlap with somatic depression. Somatic depression is associated with psychosocial measures related to gender, linking it with the descriptions of atypical depression as “reactive” appearing in the studies upon which the original criteria for atypical depression were based. Conclusion. Insomnia, disordered eating, poor body image, and aches/pains should be added as criteria for atypical depression matching criteria for somatic depression defining a reactive depressive disorder possibly distinct from endogenous melancholic depression.

  17. Evidence for Broadening Criteria for Atypical Depression Which May Define a Reactive Depressive Disorder.

    Science.gov (United States)

    Silverstein, Brett; Angst, Jules

    2015-01-01

    Objective. Arguing that additional symptoms should be added to the criteria for atypical depression. Method. Published research articles on atypical depression are reviewed. Results. (1) The original studies upon which the criteria for atypical depression were based cited fatigue, insomnia, pain, and loss of weight as characteristic symptoms. (2) Several studies of DSM depressive criteria found patients with atypical depression to exhibit high levels of insomnia, fatigue, and loss of appetite/weight. (3) Several studies have found atypical depression to be comorbid with headaches, bulimia, and body image issues. (4) Most probands who report atypical depression meet criteria for "somatic depression," defined as depression associated with several of disordered eating, poor body image, headaches, fatigue, and insomnia. The gender difference in prevalence of atypical depression results from its overlap with somatic depression. Somatic depression is associated with psychosocial measures related to gender, linking it with the descriptions of atypical depression as "reactive" appearing in the studies upon which the original criteria for atypical depression were based. Conclusion. Insomnia, disordered eating, poor body image, and aches/pains should be added as criteria for atypical depression matching criteria for somatic depression defining a reactive depressive disorder possibly distinct from endogenous melancholic depression.

  18. Vesicular erythema migrans: an atypical and easily misdiagnosed form of Lyme disease.

    Science.gov (United States)

    Mazori, Daniel R; Orme, Charisse M; Mir, Adnan; Meehan, Shane A; Neimann, Andrea L

    2015-08-15

    Erythema migrans is the initial sign in the majority of patients infected with Borrelia, the genus of spirochetes that causes Lyme disease. Early identification and treatment decrease the risk of progression to later stages of disease. Although a "bull's eye" appearance owing to lesional clearing is considered classic for erythema migrans, this feature is surprisingly often lacking among patients in the United States. Furthermore, cutaneous Lyme disease can exhibit a wide range of morphologic variability in a minority of patients. Herein, we describe the case of a patient with Lyme disease in which the presence of atypical vesicular features, in conjunction with the initial absence of clearing, resulted in multiple misdiagnoses and delayed treatment. We also review the literature on the epidemiology and management of erythema migrans for cases in which the diagnosis may pose a challenge.

  19. An atypical clinical presentation of acute appendicitis in a young man with midgut malrotation

    Energy Technology Data Exchange (ETDEWEB)

    Pinto, Antonio [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy)]. E-mail: pinto@neomedia.it; Di Raimondo, Domenico [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy); Tuttolomondo, Antonino [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy); Fernandez, Paola [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy); Caronia, Aurelio [Dipartimento di Biotecnologie Mediche - Sezione di Radiologia, University of Palermo, Via del Vespro no 129, 90127 Palermo (Italy); Lagalla, Roberto [Dipartimento di Biotecnologie Mediche - Sezione di Radiologia, University of Palermo, Via del Vespro no 129, 90127 Palermo (Italy); Arnao, Valentina [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy); Law, Robert L. [Department of Radiology, Frenchay Hospital, Bristol (United Kingdom); Licata, Giuseppe [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy)

    2007-05-15

    Midgut malrotation occurs as a result of failure in normal intestinal rotation and fixation during early pregnancy. Pathological conditions reported in the literature involving midgut malrotation predominantly relate to infants and children. In adults malrotation is often revealed as an incidental finding on computed tomography (CT), or the associated altered anatomy can be the cause of atypical clinical symptoms of relatively common intestinal disorders. An unusual presentation of acute appendicitis, with fever and recurrent pain in left iliac fossa is reported. Underlying intestinal malrotation delayed the correct clinical diagnosis of acute appendicitis. It was not until a CT scan was performed that a malrotation was identified. The predominant appearances of malrotation are the siting of the ascending colon, caecum (and appendix) in the left side of the abdomen and the right-sided placement of the duodenojejunal junction.

  20. Tardive dyskinesia occurring in a young woman after withdrawal of an atypical antipsychotic drug.

    Science.gov (United States)

    Alblowi, Mohammed A; Alosaimi, Fahad D

    2015-10-01

    Tardive dyskinesia (TD) is one of the most serious and disturbing side-effects of dopamine receptor antagonists. It affects 20-50% of patients on long-term antipsychotic therapy. The pathophysiology of TD remains poorly understood, and treatment is often challenging. Here, we present a 32-year-old woman presenting with a 9-month history of TD occurring after risperidone withdrawal, and characterized almost exclusively by tongue protrusion. After being seen by different specialties and undergoing multiple investigations, she was eventually correctly diagnosed with TD by a specialist team and successfully treated with amantadine. Vigilance and awareness of this condition and its risk factors are required to make the correct diagnosis, especially in cases with unusual presentations caused by atypical antipsychotics, and treatment can be challenging.

  1. Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

    Science.gov (United States)

    Balasubramanian, Meena; Cartwright, Ashley; Smith, Kath; Arundel, Paul; Bishop, Nicholas J

    2016-02-01

    We report a sibling-pair and a 4-year old child from two families with an atypical presentation in Osteogenesis imperfecta (OI). In the sib-pair, the older sibling initially came to medical attention due to a fracture history (Patient 1) and she was shown to have a COL1A2 mutation. In addition, she also had developmental delay, facial dysmorphism, and a history of frequent infections which led to a search for an alternate diagnosis. ArrayCGH revealed a 4.3 Mb duplication on chromosome 19q13.42q13.43, which was confirmed by FISH analysis. On further familial analysis, the younger sibling who had no previous fracture history was also found to have the COL1A2 mutation and tested positive for the 19q13.42q13.43 duplication (Patient 2). The 19q13 duplication appears to be the cause of intellectual disability in these siblings but given that this is a chromosomal duplication, it is still possible that there is an as yet unidentified cause that may account for the combined phenotype in this family. Patient 3 was a 4-year old child presenting with a femoral fracture, blue sclerae, developmental delay, and joint hypermobility. Genetic analyses confirmed a COL1A2 mutation but also revealed an 8.8 Mb deletion of 11q24.2q25, confirmed by G-band chromosome analysis. We discuss the differing phenotypes in patients presenting with atypical OI and stress the need to consider ancillary investigations in individuals presenting with heterogeneous phenotypic symptoms, not entirely attributable to OI.

  2. Risk Factors for Coronary Heart Disease Among Inpatients Who Have Mild Intellectual Disability and Mental Illness

    Science.gov (United States)

    Merriman, S.; Haw, C.; Kirk, J.; Stubbs, J.

    2005-01-01

    Coronary heart disease (CHD) is a major cause of morbidity and mortality in the UK. The aim of this study was to screen inpatients with mild or borderline intellectual disability, many of whom also have mental illness, for risk factors for CHD. Participants were interviewed, measured and had blood samples taken. Of the 53 participants, 20 (37.7%)…

  3. PET Imaging of Mild Traumatic Brain Injury and Whiplash Associated Disorder

    NARCIS (Netherlands)

    Vállez García, David

    2015-01-01

    Traumatic brain injury is the leading cause of brain injury in our society with 235 per 100,000 inhabitants per year in the European Union and about 500 per 100,000 inhabitants per year in the United States. About 80% of all these events are accounted for as mild cases. At the same time, whiplash-as

  4. Perfusion Computed Tomography in the Acute Phase of Mild Head Injury : Regional Dysfunction and Prognostic Value

    NARCIS (Netherlands)

    Metting, Zwany; Rodiger, Lars A.; Stewart, Roy E.; Oudkerk, Matthijs; De Keyser, Jacques; van der Naalt, Joukje

    2009-01-01

    Objective: Traumatic brain injury is a major Cause of disability and death. Most patients sustain a mild head injury with a subgroup that experiences disabling symptoms interfering with return to work. Brain imaging in the acute phase is not predictive of outcome, as 20% of noncontrast computed tomo

  5. Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations

    DEFF Research Database (Denmark)

    Gonsorcikova, Lucie; Vaxillaire, Martine; Pruhova, Stepanka;

    2011-01-01

    of the young genes (MODY1-4 and 6), we identified a novel ABCC8 V84I mutation, which segregated with autosomal dominant transmission of mild hyperglycemia within three generations. This mutation that is located in a conserved area of transmembrane domain TMD0 seems to be a rare cause of clinical phenotype...

  6. Early supported discharge following mild stroke

    DEFF Research Database (Denmark)

    Lou, Stina; Carstensen, Kathrine; Møldrup, Marie;

    2016-01-01

    BACKGROUND: Early supported discharge (ESD) allows mild-to-moderate stroke patients to return home as soon as possible and continue rehabilitation at their own pace in familiar surroundings. Thus, the main responsibility for continued rehabilitation is in the hands of patients and their partners......, who must collaborate to adjust to poststroke everyday life. However, couples' joint experiences of stroke, early discharge and rehabilitation at home remain minimally investigated. AIM: To investigate how mild stroke patients' and their partners' experience and manage everyday life in a context of ESD....... METHODS: We conducted qualitative interviews with a purposive sample of 22 ESD patients and 18 partners. Interviews were conducted 3-6 weeks after stroke, and we used thematic analysis to analyse the data. FINDINGS: The analysis identified three themes. First, 'Home as a healing place' involved...

  7. An Extended Mild-Slope Equation

    Institute of Scientific and Technical Information of China (English)

    PAN Junning; HONG Guangwen; ZUO Qihua

    2000-01-01

    On the assumption that the vortex and the vertical velocity component of the current are small, a mild-slope equation for wave propagation on non-uniform flows is deduced from the basic hydrodynamic equations, with the terms of ( h h)2 and /2h h included in the equation. The terms of bottom friction, wind energy input and wave nonlinearity are also introduced into the equation. The wind energy input functions for wind waves and swells are separately considered by adopting Wen′s (1989) empirical formula for wind waves and Snyder′s observation results for swells. Thus, an extended mild-slope equation is obtained, in which the effects of refraction, diffraction, reflection, current, bottom friction, wind energy input and wave nonlinearity are considered synthetically.

  8. A mild form of Proteus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hauer, M.P.; Allmann, K.H.; Langer, M. [Abteilung Roentgendiagnostik, Radiologische Universitaetsklinik, Albert-Ludwigs-Universitaet Freiburg (Germany); Uhl, M. [Sektion Kinderradiologie, Albert-Ludwigs-Universitaet (Germany); Darge, K. [Radiologische Universitaetsklinik, Abteilung Kinderradiologie, Universitaet Heidelberg (Germany)

    1998-05-01

    Proteus syndrome is a rare congenital hamartomatous syndrome. We report on the clinical and radiological appearances of a boy in order to illustrate the typical signs which include subcutaneous masses, in mild forms partial gigantism of hands and feet, hemihypertrophy, and bony abnormalities. We discuss how to make the definitive diagnosis on the basis of using a known rating scale, important aspects of differential diagnosis and clinical features, and diagnostic management. (orig.) With 3 figs., 1 tab., 14 refs.

  9. Perinatal Risk Factors for Mild Motor Disability

    Science.gov (United States)

    Hands, Beth; Kendall, Garth; Larkin, Dawne; Parker, Helen

    2009-01-01

    The aetiology of mild motor disability (MMD) is a complex issue and as yet is poorly understood. The aim of this study was to identify the prevalence of perinatal risk factors in a cohort of 10-year-old boys and girls with (n = 362) and without (n = 1193) MMD. Among the males with MMD there was a higher prevalence of postpartum haemorrhage,…

  10. The Mild Space Weather in Solar Cycle 24

    CERN Document Server

    Gopalswamy, Nat; Yashiro, Seiji; Xie, Hong; Makela, Pertti; Michalek, Grzegorz

    2015-01-01

    The space weather is extremely mild during solar cycle 24: the number of major geomagnetic storms and high-energy solar energetic particle events are at the lowest since the dawn of the space age. Solar wind measurements at 1 AU using Wind and ACE instruments have shown that there is a significant drop in the density, magnetic field, total pressure, and Alfven speed in the inner heliosphere as a result of the low solar activity. The drop in large space weather events is disproportionately high because the number of energetic coronal mass ejections that cause these events has not decreased significantly. For example, the rate of halo CMEs, which is a good indicator of energetic CMEs, is similar to that in cycle 23, even though the sunspot number has declined by about 40%. The mild space weather seems to be a consequence of the anomalous expansion of CMEs due to the low ambient pressure in the heliosphere. The anomalous expansion results in the dilution of the magnetic contents of CMEs, so the geomagnetic storm...

  11. Discrepant epidemiological patterns between classical and atypical scrapie in sheep flocks under French TSE control measures.

    Science.gov (United States)

    Fediaevsky, Alexandre; Gasqui, Patrick; Calavas, Didier; Ducrot, Christian

    2010-09-01

    The occurrence of secondary cases of atypical and classical scrapie was examined in 340 outbreaks of atypical and 296 of classical sheep scrapie detected in France during active surveillance programmes between 2002 and 2007. The prevalence of atypical scrapie in these flocks was 0.05% under selective culling and 0.07% under intensified monitoring i.e. not significantly different from that detected during active surveillance of the general population (P>0.5), whereas these figures were much higher for classical scrapie (3.67% and 0.25%, respectively, P<10(-5)). In addition the number of atypical scrapie cases per outbreak did not indicate clustering. The results suggest that atypical scrapie occurs spontaneously or is not particularly contagious, and that the control measures in force allowed appropriate control of classical scrapie but were not more efficient than active surveillance in detecting cases of atypical scrapie.

  12. Oral HPV infection in a bone marrow transplantation patient: a case report with atypical clinical presentation and unexpected outcome

    Directory of Open Access Journals (Sweden)

    Claudio Maranhão Pereira

    2010-02-01

    Full Text Available HPV (Human Papilloma Virus is one of the most prevalent infections worlwide. Oral HPV infection may be associated with different diseases of oral cavitie. Although oral HPV infection occurs frequently, it rarely causes lesions. An increased rate of oral HPV-induced lesions is observed in people with an impaired immune system. The most common conditions induced by oral HPV infection are focal epithelial hyperplasia, oral condylomas and oral papillomas. We reported a case of oral HPV lesion in a bone marrow transplantation patient with atypical clinical presentation and unexpected outcome.

  13. On the interpretation of new late B- and early A-type periodic variable stars in NGC 3766

    CERN Document Server

    Mowlavi, N; Barblan, F; Eyer, L

    2013-01-01

    We investigate possible interpretations of the new periodic B- and A-type variable stars discovered in NGC 3766. They lie in the region of the Hertzsprung-Russell diagram between slowly pulsating B and delta Sct stars, a region where no pulsation is predicted by standard models of pulsating stars. We show that the two other possible causes of periodic light curve variations, rotational modulation and binarity, cannot provide a satisfactory explanation for all the properties observed in those stars either. The question of their origin is thus currently an open issue.

  14. Brain dysfunction in mild to moderate hypoxia.

    Science.gov (United States)

    Gibson, G E; Pulsinelli, W; Blass, J P; Duffy, T E

    1981-06-01

    Hypoxia is commonly invoked to explain alterations in mental function, particularly in patients with cardiac pulmonary failure. The effects of acute graded hypoxia or higher integrative functions are well documented experimentally in man. Hypoxia in experimental animal models demonstrates that the pathophysiology is complex. In mild to moderate hypoxia, in contrast to severe hypoxia and to ischemia, the supply of energy for the brain is not impaired; cerebral levels of adenosine triphosphate (ATP) and adenylate energy charge are normal. In contrast, the turnover of several neurotransmitters is altered by mild hypoxia. For example, acetylcholine synthesis is reduced proportionally to the reduction in carbohydrate oxidation. This relationship holds in vitro and with several in vivo models of hypoxia. Pharmacologic and physiologic studies in man and experimental animals are consistent with acetylcholine having an important role in mediating the cerebral effects of mild hypoxia. These observations raise the possibility that treatments directed to cholinergic or other central neurotransmitter systems may benefit patients with cerebral syndromes secondary to chronic hypoxia.

  15. Mild obstructive sleep apnea: beyond the AHI

    Directory of Open Access Journals (Sweden)

    Lee-Iannotti J

    2014-07-01

    Full Text Available No abstract available. Article truncated at 150 words. A common conundrum faced by sleep medicine practitioners is how to manage the large group of patients with mild sleep apnea. Many patients are referred for sleep evaluation, with symptoms thought to be due to obstructive sleep apnea (OSA. Often polysomnography demonstrates only mild sleep apnea, and the clinician and patient are faced with the dilemma of whether to use continuous positive airway pressure (CPAP therapy or an oral appliance. In making this important decision the clinician incorporates the commonly used definition of mild sleep apnea as an apnea-hypopnea index of between 5 and 14 apneas or hypopneas per hour of sleep. Moderate sleep apnea is defined as 15-29 events per hour, and severe is 30 and above events per hour. These arbitrary thresholds originated in the early 1980s when knowledge of this condition was in its infancy and little was known about the long term health effects. The definition ...

  16. Lessons learned from Toulouse and Buncefield disasters: from risk analysis failures to the identification of atypical scenarios through a better knowledge management.

    Science.gov (United States)

    Paltrinieri, Nicola; Dechy, Nicolas; Salzano, Ernesto; Wardman, Mike; Cozzani, Valerio

    2012-08-01

    The recent occurrence of severe major accidents has brought to light flaws and limitations of hazard identification (HAZID) processes performed for safety reports, as in the accidents at Toulouse (France) and Buncefield (UK), where the accident scenarios that occurred were not captured by HAZID techniques. This study focuses on this type of atypical accident scenario deviating from normal expectations. The main purpose is to analyze the examples of atypical accidents mentioned and to attempt to identify them through the application of a well-known methodology such as the bow-tie analysis. To these aims, the concept of atypical event is accurately defined. Early warnings, causes, consequences, and occurrence mechanisms of the specific events are widely studied and general failures of risk assessment, management, and governance isolated. These activities contribute to outline a set of targeted recommendations, addressing transversal common deficiencies and also demonstrating how a better management of knowledge from the study of past events can support future risk assessment processes in the identification of atypical accident scenarios. Thus, a new methodology is not suggested; rather, a specific approach coordinating a more effective use of experience and available information is described, to suggest that lessons to be learned from past accidents can be effectively translated into actions of prevention.

  17. Teaching Tai Chi to elders with osteoarthritis pain and mild cognitive impairment.

    Science.gov (United States)

    Chang, Jason Y; Tsai, Pao-Feng; Woods, Sheery; Beck, Cornelia; Roberson, Paula K; Rosengren, Karl

    2011-01-01

    This article describes the authors' experience and strategies in teaching Tai Chi, a gentle exercise derived from an ancient Chinese martial art, to mildly cognitively impaired elders to relieve osteoarthritic knee pain. The 12-form Sun-style Tai Chi, a set of Tai Chi forms endorsed by the American Arthritis Foundation, was used in the program. Teaching Tai Chi to elders with mild cognitive impairment requires particular strategies tailored to their physical and cognitive frailty. When effectively taught, Tai Chi can be a unique and cost-effective intervention for elders with knee pain caused by osteoarthritis.

  18. Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.

    Science.gov (United States)

    Wessels, Marja W; den Hollander, Nicolette S; Willems, Patrick J

    2003-03-01

    Primary ciliary dyskinesia (PCD), also referred to as immotile-cilia syndrome or Kartagener syndrome, is a group of genetic disorders caused by defective cilia leading to chronic sinupulmonary infection, situs inversus and reduced fertility. Some PCD patients also have cerebral ventriculomegaly or hydrocephalus. We report here two fetuses and one newborn with mild cerebral ventriculomegaly and a suspected and/or confirmed diagnosis of PCD. These cases demonstrate that mild fetal cerebral ventriculomegaly can be a prenatal sonographic marker of PCD, certainly in fetuses with situs inversus or a history of a previous sib with PCD.

  19. Repurposing psychiatric medicines to target activated microglia in anxious mild cognitive impairment and early Parkinson’s disease

    Science.gov (United States)

    Lauterbach, Edward C

    2016-01-01

    Anxiety is common in the Mild Cognitive Impairment (MCI) stage of Alzheimer’s disease (AD) and the pre-motor stages of Parkinson’s disease (PD). A concomitant and possible cause of this anxiety is microglial activation, also considered a key promoter of neurodegeneration in MCI and early PD via inflammatory mechanisms and the generation of degenerative proinflammatory cytokines. Psychiatric disorders, prevalent in AD and PD, are often treated with psychiatric drugs (psychotropics), raising the question of whether psychotropics might therapeutically affect microglial activation, MCI, and PD. The literature of common psychotropics used in treating psychiatric disorders was reviewed for preclinical and clinical findings regarding microglial activation. Findings potentially compatible with reduced microglial activation or reduced microglial inflammogen release were evident for: antipsychotics including neuroleptics (chlorpromazine, thioridazine, loxapine) and atypicals (aripiprazole, olanzapine, quetiapine, risperidone, ziprasidone); mood stabilizers (carbamazepine, valproate, lithium); antidepressants including tricyclics (amitriptyline, clomipramine, imipramine, nortriptyline), SSRIs (citalopram, escitalopram, fluoxetine, fluvoxamine, paroxetine, sertraline), venlafaxine, and bupropion; benzodiazepine anxiolytics (clonazepam, diazepam); cognitive enhancers (donepezil, galantamine, memantine); and other drugs (dextromethorphan, quinidine, amantadine). In contrast, pramipexole and methylphenidate might promote microglial activation. The most promising replicated findings of reduced microglial activation are for quetiapine, valproate, lithium, fluoxetine, donepezil, and memantine but further study is needed and translation of their microglial effects to human disease still requires investigation. In AD-relevant models, risperidone, valproate, lithium, fluoxetine, bupropion, donepezil, and memantine have therapeutic microglial effects in need of replication. Limited

  20. Solitary Atypical Adenomatous Hyperplasia in a 12-Year-Old Girl.

    Science.gov (United States)

    Jin, Moran; Lee, Yang-Haeng; Kim, Bomi; Yoon, Young Chul; Wi, Jin Hong

    2016-04-01

    Atypical adenomatous hyperplasia is a premalignant lesion reflecting a focal proliferation of atypical cells. These lesions are usually observed as incidental findings in lungs that have been resected due to other conditions, such as lung cancer. We report the youngest case of atypical adenomatous hyperplasia on record in a 12-year-old girl. In this patient, the lesion was found in association with pneumothorax.

  1. Atypical Subtrochanteric Femur Fracture in Patient with Metastatic Breast Cancer Treated with Zoledronic Acid

    OpenAIRE

    2012-01-01

    Several case series have suggested an association exists between atypical femoral subtrochanteric fractures and long-term use of bisphosphonates. It is thought that prolonged use of bisphosphonates may lead to adynamic, fragile bone. The radiologic features of atypical fractures include diffuse cortical thickening, transverse fracture, and beaking at the lateral subtrochanteric area. Atypical subtrochanteric femur fractures have been reported after use of alendronate, but there have been rare...

  2. Endometrioid carcinoma infiltrating atypical leiomyoma: A mimicker of malignant mixed Mullerian tumor

    Directory of Open Access Journals (Sweden)

    Qury Sabita Mahapatra

    2014-01-01

    Full Text Available Atypical or symplastic leiomyoma is a rare histological variant of leiomyoma. This is a case report of 63-year-old patient who underwent hysterectomy with bilateral salpingo-oophorectomy. Histopathology of the polypoid growth seen in the endometrial cavity revealed atypical leiomyoma infiltrated by endometrioid cancer. Atypical leiomyoma can be misdiagnosed as leiomyosarcoma. Thus, carcinosarcoma was ruled out as it has an ominous prognosis. A diagnosis of atypical leiomyoma infiltrated by endometrioid cancer was given. We report this case as there are very few case reports of the above two pathology occurring simultaneously in the same patient.

  3. Atypical presentation of a cervical breast-cancer metastasis mimicking a dumbbell-shaped neurinoma

    Directory of Open Access Journals (Sweden)

    Christoph Kolja Boese

    2014-01-01

    CONCLUSION: The present case report and the reviewed literature point towards a growing clinical relevance of symptomatic LM in cancer patients and their possible atypical presentations and locations.

  4. Atypical Clinical Manifestations of Graves' Disease: An Analysis in Depth

    Directory of Open Access Journals (Sweden)

    Mohamed Osama Hegazi

    2012-01-01

    Full Text Available Over the past few decades, there has been an increase in the number of reports about newly recognized (atypical or unusual manifestations of Graves' disease (GD, that are related to various body systems. One of these manifestations is sometimes the main presenting feature of GD. Some of the atypical manifestations are specifically related to GD, while others are also similarly seen in patients with other forms of hyperthyroidism. Lack of knowledge of the association between these findings and GD may lead to delay in diagnosis, misdiagnosis, or unnecessary investigations. The atypical clinical presentations of GD include anemia, vomiting, jaundice, and right heart failure. There is one type of anemia that is not explained by any of the known etiological factors and responds well to hyperthyroidism treatment. This type of anemia resembles anemia of chronic disease and may be termed GD anemia. Other forms of anemia that are associated with GD include pernicious anemia, iron deficiency anemia of celiac disease, and autoimmune hemolytic anemia. Vomiting has been reported as a presenting feature of Graves' disease. Some cases had the typical findings of hyperthyroidism initially masked, and the vomiting did not improve until hyperthyroidism has been detected and treated. Hyperthyroidism may present with jaundice, and on the other hand, deep jaundice may develop with the onset of overt hyperthyroidism in previously compensated chronic liver disease patients. Pulmonary hypertension is reported to be associated with GD and to respond to its treatment. GD-related pulmonary hypertension may be so severe to produce isolated right-sided heart failure that is occasionally found as the presenting manifestation of GD.

  5. Atypical lymphocytes in malaria mimicking dengue infection in Thailand

    Directory of Open Access Journals (Sweden)

    Polrat Wilairatana

    2010-09-01

    Full Text Available Polrat Wilairatana1, Noppadon Tangpukdee1, Sant Muangnoicharoen1, Srivicha Krudsood2, Shigeyuki Kano31Department of Clinical Tropical Medicine, 2Department of Tropical Hygiene, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand; 3Department of Tropical Medicine and Malaria, Research Institute, National Center for Global Health and Medicine, Tokyo, JapanAbstract: Patients with uncomplicated falciparum or vivax malaria usually present with acute febrile illness and thrombocytopenia similar to dengue infection. We retrospectively studied atypical lymphocytes (AL and atypical lymphocytosis (ALO, defined as AL > 5% of total white blood cells in 1310 uncomplicated malaria patients. In 718 falciparum malaria patients, AL and ALO on day 0 were found in 53.2% and 5.7% of the patients, respectively, with median AL on admission of 1% (range 0%–10%, whereas in 592 vivax malaria patients, AL and ALO on day 0 were found in 55.4% and 9.5% of the patients, respectively, with median AL on admission of 1% (range 0%–14%. After antimalarial treatment, AL and ALO declined in both falciparum and vivax malaria. However, AL and ALO remained in falciparum malaria on days 7, 14, and 21, whereas AL and ALO remained in vivax malaria on days 7, 14, 21, and 28. In both falciparum and vivax malaria patients, there was a positive correlation between AL and total lymphocytes, but a negative correlation between AL and highest fever on admission, white blood cells, and neutrophils, eosinophils, and platelets (P < 0.05. In conclusion, AL or ALO may be found in uncomplicated falciparum and vivax malaria mimicking dengue infection. In tropical countries where both dengue and malaria are endemic, presence of AL or ALO in any acute febrile patients with thrombocytopenia (similar to the findings in dengue malaria could not be excluded. Particularly if the patients have risk of malaria infection, confirmative microscopic examination for malaria should be carried out

  6. [Haemophilus influenzae type B meningitis: typical and atypical presentation].

    Science.gov (United States)

    Sánchez, J M; Zurro, F J; Ferreiro, D; Llana, R; Uría, D F

    1998-02-01

    We present 2 cases of Haemophilus influenzae meningitis. The first is a patient with atypical simptomatology: abdominal pain, fever and two days later pain in the back of his legs. Abdominal pathology was not found. The cerebrospinal fluid (CSF) showed polymorphonuclear cells, hyperproteinorachia and lowered glucose. CSF culture revealed Haemophilus influenzae, blood culture was sterile. The second had suffered surgery at maxilar and ethmoid sinuses four years before, and unknown germ meningitis 6 months before. Haemophilus influenzae was isolated from CSF cultures and CSF rhinorrhea was detected by isotopic cisternography.

  7. Atypical neuroleptic malignant syndrome with long-term clozapine.

    Science.gov (United States)

    Corallo, Carmela E; Ernest, David

    2007-12-01

    Clozapine-induced neuroleptic malignant syndrome (NMS) may present differently from NMS associated with traditional antipsychotic agents, with fewer clinical features, particularly fewer extrapyramidal manifestations. The risk of developing NMS with clozapine does not appear dose-related. In half of cases, it occurs within 2 weeks of beginning clozapine therapy, but it can develop at any stage, especially with long-term use. We describe a patient who presented with atypical NMS after more than 10 years of clozapine treatment, and who was safely re-challenged with the same drug.

  8. A case of unilateral atypical orofacial pain with Eagle's syndrome

    Directory of Open Access Journals (Sweden)

    G V Sowmya

    2016-01-01

    Full Text Available Eagle's syndrome is not an uncommon condition, but less known to physicians, where an elongated styloid process or calcified stylohyoid ligament compresses the adjacent anatomical structures leading to orofacial pain. Diagnosis is made with appropriate radiological examination. Nonsurgical treatment options include reassurance, analgesia, and anti.inflammatory medications; and the surgical option includes a transoral or external approach. Here, we present a case report of a male patient, of age38 years, with a chief complaint of unilateral atypical orofacial pain on the right side of his face radiating to the neck region, for the last two months.

  9. AMELANOTIC MELANOMA WITH ATYPICAL CLINICAL PRESENTATION AND MULTIPLE METASTASIS

    Directory of Open Access Journals (Sweden)

    Revathy

    2014-11-01

    Full Text Available A 52 year old woman presented with a history of asymptomatic skin lesions over left leg for the past 4 months. On examination she had multiple skin coloured papules and plaques over left leg. Oedema was also seen over left leg. Histopathology and immunohistochemistry proved the diagnosis of malignant melanoma. Radiological investigation showed metastasis to lung, liver and brain. The patient was asymptomatic at the time of admission but she developed rapid metastasis within a very short span of time. This case is reported for the rare atypical presentation of malignant melanoma.

  10. Quantitative methods for somatosensory evaluation in atypical odontalgia

    DEFF Research Database (Denmark)

    Porporatti, André Luís; Costa, Yuri Martins; Stuginski-Barbosa, Juliana;

    2015-01-01

    A systematic review was conducted to identify reliable somatosensory evaluation methods for atypical odontalgia (AO) patients. The computerized search included the main databases (MEDLINE, EMBASE, and Cochrane Library). The studies included used the following quantitative sensory testing (QST......) methods: mechanical detection threshold (MDT), mechanical pain threshold (MPT) (pinprick), pressure pain threshold (PPT), dynamic mechanical allodynia with a cotton swab (DMA1) or a brush (DMA2), warm detection threshold (WDT), cold detection threshold (CDT), heat pain threshold (HPT), cold pain detection...... compared with healthy subjects. In clinical settings, the most reliable evaluation method for AO in patients with persistent idiopathic facial pain would be intraindividual assessments using HPT or mechanical allodynia tests....

  11. Atypical case of primary intraosseous adenoid cystic carcinoma of mandible

    Directory of Open Access Journals (Sweden)

    D P Vinuth

    2013-01-01

    Full Text Available The Primary central salivary gland neoplasms of the mandible are infrequent. Their clinical and radiographic features may be similar to odontogenic tumors, which are otherwise common. Their accurate diagnosis becomes troublesome.Hence, diagnosis should depend on stringent diagnostic criteria. Adenoid cystic carcinoma is well known for its prolonged clinical course and its tendency for delayed onset of distant metastases. The long-term survival of these patients is therefore poor. Treatment modalities include surgery, radiotherapy and chemotherapy. The purpose of this paper is to report a case of primary central adenoid cystic carcinoma of mandible with an atypical presentation.

  12. Atypical presentation of sporotrichosis: report of three cases

    Directory of Open Access Journals (Sweden)

    Melissa Orzechowski Xavier

    2013-01-01

    Full Text Available Sporotrichosis occurs after fungal implantation of Sporothrix spp. in the skin, and is the main subcutaneous mycosis in Latin America. Here we describe three atypical cases of the disease. The first case report an extra-cutaneous occurrence of the disease with joint infection; the second one describes a patient with bilateral lymphocutaneous form of sporotrichosis; and the third shows a zoonotic cutaneous case with the development of an erythema nodosum as a hypersensitivity reaction. These cases show the disease importance on the region and the necessity of fungal culture to the diagnosis confirmation.

  13. Lipomatosis of the sciatic nerve: typical and atypical MRI features

    Energy Technology Data Exchange (ETDEWEB)

    Wong, Bernadette Zhi Ying [Mayo Clinic School of Medicine, Rochester, MN (United States); University College London, Royal Free and University College Medical School, London (United Kingdom); Amrami, Kimberly K.; Wenger, Doris E. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Dyck, P. James B. [Mayo Clinic, Department of Neurology, Rochester, MN (United States); Scheithauer, Bernd W. [Mayo Clinic, Department of Pathology, Rochester, MN (United States); Spinner, Robert J. [Mayo Clinic, Department of Neurologic Surgery, Rochester, MN (United States); Mayo Clinic, Department of Orthopedics, Rochester, MN (United States)

    2006-03-15

    Lipomatosis of nerve, also known as fibrolipomatous hamartoma, is a rare condition of nerve, usually affecting the median nerve. The MRI appearance is characteristic. We describe two cases of lipomatosis of nerve involving the sciatic nerve, an extremely unusual location for this lesion, in patients with sciatic neuropathy. These cases share the typical features previously described in the literature for other nerves, but also contain atypical features not previously highlighted, relating to the variability in distribution and extent of the fatty deposition. Recognition of the MRI appearance of this entity is important in order to avoid unnecessary attempts at surgical resection of this lesion. (orig.)

  14. An atypical case of necrotizing fasciitis of the breast.

    Science.gov (United States)

    Mufty, H; Smeets, A; Christiaens, M R

    2014-01-01

    Necrotizing fasciitis is a rare and aggressive soft tissue infection involving the fascia and subcutaneous tissues. It carries a high mortality and morbidity rate. In literature, the few case reports on necrotizing fasciitis of the breast, describe the need for a mastectomy in 90% of the cases. We report on a case of a 72-year old Caucasian women with an atypical presentation of necrotizing fasciitis of the breast in combination with an acute abdomen, successfully treated with breast-conserving debridement and secondary wound closure.

  15. Unusual imaging presentation of infantile atypical Kawasaki disease

    Directory of Open Access Journals (Sweden)

    Nishith Kumar

    2016-01-01

    Full Text Available Kawasaki disease is a systemic medium vessel vasculitis of unknown etiology affecting children under 5 years of age. There are no specific diagnostic tests, and thus, the diagnosis of the disease is primarily made on the basis of clinical criteria. Unusual presentations of Kawasaki disease have been variably reported from different parts of the world. However, presentation of the disease in the form of peripheral thromboembolism and florid non-coronary aneurysms has rarely been described This report describes the imaging findings in infantile atypical Kawasaki disease with aneurysms of multiple medium-sized arteries, including coronary arteries, emphasizing the detection of clinically silent aneurysms in the disease.

  16. Unusual imaging presentation of infantile atypical Kawasaki disease.

    Science.gov (United States)

    Kumar, Nishith; Mittal, Mahesh Kumar; Sinha, Mukul; Gupta, Arpita; Thukral, Brij Bhushan

    2016-01-01

    Kawasaki disease is a systemic medium vessel vasculitis of unknown etiology affecting children under 5 years of age. There are no specific diagnostic tests, and thus, the diagnosis of the disease is primarily made on the basis of clinical criteria. Unusual presentations of Kawasaki disease have been variably reported from different parts of the world. However, presentation of the disease in the form of peripheral thromboembolism and florid non-coronary aneurysms has rarely been described This report describes the imaging findings in infantile atypical Kawasaki disease with aneurysms of multiple medium-sized arteries, including coronary arteries, emphasizing the detection of clinically silent aneurysms in the disease.

  17. Multiphasic acute disseminated encephalomyelitis associated with atypical rubella virus infection.

    Science.gov (United States)

    Shinoda, Koji; Asahara, Hideaki; Uehara, Taira; Miyoshi, Katsue; Suzuki, Satoshi O; Iwaki, Toru; Kira, Jun-ichi

    2015-02-01

    We report the first case of an occurrence of multiphasic acute disseminated encephalomyelitis (ADEM) associated with atypical rubella virus infection with no rash and long-term increased titers of serum anti-rubella IgM in a 17-year-old male who had no history of rubella vaccination. He suffered from at least six clinical exacerbations with disseminated hyperintense lesions on FLAIR MR images during the course of 18 months. Repeated methylprednisolone pulse therapy and intravenous immunoglobulin therapy resolved the exacerbations. In patients with multiphasic ADEM of unknown etiology, clinicians should also consider the possibility of preceding infection with rubella virus.

  18. Device-related atypical pressure ulcer after cardiac surgery.

    Science.gov (United States)

    Glasgow, D; Millen, I S; Nzewi, O C; Varadarajaran, B

    2014-08-01

    Medical devices must be closely monitored to prevent harm to patients. Pressure ulcers secondary to medical devices present a significant health burden in terms of length of stay in hospital and cost. Intensivists, anaesthetists and other professionals involved in managing critically ill patients following cardiac surgery need to be aware that pressure ulcers may develop in atypical sites and present at a later stage of the hospital stay. This case report highlights the important issue of device-related pressure ulcers in the cardiac surgical intensive care setting, particularly when the clinical status of the patient may preclude routine assessment and prophylaxis. An algorithm for preventing such pressure ulcers is suggested.

  19. Comparison of the quick mild cognitive impairment (Qmci) screen and the SMMSE in screening for mild cognitive impairment.

    LENUS (Irish Health Repository)

    O'Caoimh, Rónán

    2012-09-01

    differentiating mild cognitive impairment (MCI) from normal cognition (NC) is difficult. The AB Cognitive Screen (ABCS) 135, sensitive in differentiating MCI from dementia, was modified to improve sensitivity and specificity, producing the quick mild cognitive impairment (Qmci) screen.

  20. Inheritance of tolerance to Cowpea Mild Mottle Virus in soybean

    Directory of Open Access Journals (Sweden)

    Carlos A Arrabal Arias

    2015-08-01

    Full Text Available Soybean stem necrosis is caused by Cowpea mild mottle virus (CPMMV and it has been recognized as an emerging and economically important disease in Brazil. No resistant, but only tolerant cultivars have been identified so far, and their genetic control is still unknown. To investigate the inheritance of soybean tolerance to CPMMV, two crosses between tolerant cultivars (BRS 133 x BRSMT Pintado, and between a susceptible (CD 206 and a tolerant cultivar (BRSMT Pintado were carried out to obtain F2 and F2:3 generations. Quantitative and qualitative analyses applied to the data from greenhouse evaluations showed that there are at least two distinct major genes determining tolerance to CPMMV, one in the soybean cultivar BRS 133 and another in the cultivar BRSMT Pintado, with predominance of additive genetic effects and heritability levels that allow for efficient selection based on early generation means

  1. Mild Diabetes Models and Their Maternal-Fetal Repercussions

    Directory of Open Access Journals (Sweden)

    D. C. Damasceno

    2013-01-01

    Full Text Available The presence of diabetes in pregnancy leads to hormonal and metabolic changes making inappropriate intrauterine environment, favoring the onset of maternal and fetal complications. Human studies that explore mechanisms responsible for changes caused by diabetes are limited not only for ethical reasons but also by the many uncontrollable variables. Thus, there is a need to develop appropriate experimental models. The diabetes induced in laboratory animals can be performed by different methods depending on dose, route of administration, and the strain and age of animal used. Many of these studies are carried out in neonatal period or during pregnancy, but the results presented are controversial. So this paper, addresses the review about the different models of mild diabetes induction using streptozotocin in pregnant rats and their repercussions on the maternal and fetal organisms to propose an adequate model for each approached issue.

  2. DNA-repair in mild cognitive impairment and Alzheimer's disease.

    Science.gov (United States)

    Bucholtz, Nina; Demuth, Ilja

    2013-10-01

    While the pathogenesis of the sporadic form of Alzheimer disease (late onset Alzheimer disease, LOAD) is not fully understood, it seems to be clear that a combination of genetic and environmental factors are involved and influence the course of the disease. Among these factors, elevated levels of oxidative stress have been recognized and individual differences in the capacity to deal with DNA damage caused by its effects have been the subject of numerous studies. This review summarizes the research on DNA repair proteins and genes in the context of LOAD pathogenesis and its possible prodromal stage, mild cognitive impairment (MCI). The current status of the research in this field is discussed with respect to methodological issues which might have compromised the outcome of some studies and future directions of investigation on this subject are depicted.

  3. Investigation of Fecraly Coating on Corrosion Behaviour of Mild Steel

    Directory of Open Access Journals (Sweden)

    Joseph B. AGBOOLA

    2009-07-01

    Full Text Available Steel has found wide application in hot rolling equipments in the steel industry and the oil rig structures in sea water. These equipments are frequently subjected to corrosive and temperature condition which causes severe damage to them, hence the need to develop steel suitable to withstand these conditions in terms of surface treatment. This research work investigates the effect of FeCrAlY coating on mild steel under high temperature and aggressive environment. Iron based coatings are used due to low cost among other properties such as good corrosion resistance, ease of machining and high ductility when compared to hard metals.Thermal spraying of the specimens was carried out using high velocity oxygen fuel (HVOF. Corrosion test was carried out on both coated and uncoated samples. All samples were subjected to the same high temperature treatment for oxidation test.

  4. Low-frequency connectivity is associated with mild traumatic brain injury

    Directory of Open Access Journals (Sweden)

    B.T. Dunkley

    2015-01-01

    Full Text Available Mild traumatic brain injury (mTBI occurs from a closed-head impact. Often referred to as concussion, about 20% of cases complain of secondary psychological sequelae, such as disorders of attention and memory. Known as post-concussive symptoms (PCS, these problems can severely disrupt the patient's quality of life. Changes in local spectral power, particularly low-frequency amplitude increases and/or peak alpha slowing have been reported in mTBI, but large-scale connectivity metrics based on inter-regional amplitude correlations relevant for integration and segregation in functional brain networks, and their association with disorders in cognition and behaviour, remain relatively unexplored. Here, we used non-invasive neuroimaging with magnetoencephalography to examine functional connectivity in a resting-state protocol in a group with mTBI (n = 20, and a control group (n = 21. We observed a trend for atypical slow-wave power changes in subcortical, temporal and parietal regions in mTBI, as well as significant long-range increases in amplitude envelope correlations among deep-source, temporal, and frontal regions in the delta, theta, and alpha bands. Subsequently, we conducted an exploratory analysis of patterns of connectivity most associated with variability in secondary symptoms of mTBI, including inattention, anxiety, and depression. Differential patterns of altered resting state neurophysiological network connectivity were found across frequency bands. This indicated that multiple network and frequency specific alterations in large scale brain connectivity may contribute to overlapping cognitive sequelae in mTBI. In conclusion, we show that local spectral power content can be supplemented with measures of correlations in amplitude to define general networks that are atypical in mTBI, and suggest that certain cognitive difficulties are mediated by disturbances in a variety of alterations in network interactions which are differentially

  5. Predictable chronic mild stress in adolescence increases resilience in adulthood.

    Science.gov (United States)

    Suo, Lin; Zhao, Liyan; Si, Jijian; Liu, Jianfeng; Zhu, Weili; Chai, Baisheng; Zhang, Yan; Feng, Jiajia; Ding, Zengbo; Luo, Yixiao; Shi, Haishui; Shi, Jie; Lu, Lin

    2013-07-01

    Stress in adolescence has been widely demonstrated to have a lasting impact in humans and animal models. Developmental risk and protective factors play an important role in the responses to stress in adulthood. Mild-to-moderate stress in adolescence may resist the negative impacts of adverse events in adulthood. However, little research on resilience has been conducted. In this study, we used a predictable chronic mild stress (PCMS) procedure (5 min of daily restraint stress for 28 days) in adolescent rats (postnatal days (PNDs) 28-55) to test the resilience effect of PCMS on depressive-like behavior in the sucrose preference test and forced swim test and anxiety-like behavior in the novelty-suppressed feeding test and elevated plus maze in adulthood. We also investigated the role of mammalian target of rapamycin (mTOR) signaling in the brain during the PCMS procedure in adolescence. Moreover, we investigated the effect of PCMS in adolescence on subsequent responses to chronic unpredictable stress (CUS; PNDs 63-83) in adulthood. The results demonstrated that PCMS during adolescence produced antidepressant- and anxiolytic-like effects and increased mTOR signaling activity in the prefrontal cortex in early adulthood. Either systemic administration or intra-PFC infusion of the mTOR inhibitor rapamycin completely blocked the behavioral effects produced by PCMS in adolescence. PCMS during adolescence resisted depressive- and anxiety-like behavior caused by CUS in adulthood. These findings indicate that PCMS in adolescence can contribute to resilience against depression and anxiety caused by stress in adulthood.

  6. Attenuation of MK-801-induced behavioral perseveration by typical and atypical antipsychotic pretreatment in rats.

    Science.gov (United States)

    Tuplin, Erin W; Stocco, Marlaina R; Holahan, Matthew R

    2015-08-01

    The noncompetitive NMDA receptor antagonist (+)-5-methyl-10,11-dihydro-5H-dibenzo [a,d] cyclohepten-5-10-imine maleate (MK-801) has been shown to increase the probability of operant responding during extinction and reduce infralimbic prefrontal cortical activation, possibly modeling the cognitive dysfunction symptomology, and underlying cause, in patients with schizophrenia. The present study sought to determine if typical and/or atypical antipsychotics would attenuate the MK-801-induced behavioral perseveration and whether this would be associated with concomitant changes in phosphorylated ERK1/2 (pERK1/2) labeling in the infralimbic cortex (IL). Male, Long Evans rats were pretreated with the typical antipsychotic, Flupenthixol (0, 0.125, 0.25 or 0.5 mg/kg) or the atypical antipsychotic, aripiprazole (0, 0.3, 1.0, 3.0 mg/kg), then given 0.1 mg/kg MK-801 followed by a 60-min appetitive operant extinction session. Flupenthixol produced a dose-dependent decrease in MK-801-induced bar pressing behavior and locomotor activity and a dose-dependent increase in IL pERK1/2 labeling. Aripiprazole produced a U-shaped dose-response curve on MK-801-induced bar pressing behavior, a dose-dependent decrease in locomotor activity but no changes in IL pERK1/2 labeling. The attenuation of the MK-801-induced behavioral (bar pressing, locomotion) profile by Flupenthixol indicates a clear dopaminergic contribution to this behavior. The behavioral effect of aripiprazole may be due to its a) binding to presynaptic dopamine receptors at the midrange dose decreasing dopamine output and b) binding to postsynaptic dopamine receptors at the higher dose increasing dopamine tone. While both classes of antipsychotics can normalize perseverative behavioral symptoms, the underlying prefrontal cortical dysregulation seems to persist.

  7. Characterization of the autophagy marker protein Atg8 reveals atypical features of autophagy in Plasmodium falciparum.

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    Rahul Navale

    Full Text Available Conventional autophagy is a lysosome-dependent degradation process that has crucial homeostatic and regulatory functions in eukaryotic organisms. As malaria parasites must dispose a number of self and host cellular contents, we investigated if autophagy in malaria parasites is similar to the conventional autophagy. Genome wide analysis revealed a partial autophagy repertoire in Plasmodium, as homologs for only 15 of the 33 yeast autophagy proteins could be identified, including the autophagy marker Atg8. To gain insights into autophagy in malaria parasites, we investigated Plasmodium falciparum Atg8 (PfAtg8 employing techniques and conditions that are routinely used to study autophagy. Atg8 was similarly expressed and showed punctate localization throughout the parasite in both asexual and sexual stages; it was exclusively found in the pellet fraction as an integral membrane protein, which is in contrast to the yeast or mammalian Atg8 that is distributed among cytosolic and membrane fractions, and suggests for a constitutive autophagy. Starvation, the best known autophagy inducer, decreased PfAtg8 level by almost 3-fold compared to the normally growing parasites. Neither the Atg8-associated puncta nor the Atg8 expression level was significantly altered by treatment of parasites with routinely used autophagy inhibitors (cysteine (E64 and aspartic (pepstatin protease inhibitors, the kinase inhibitor 3-methyladenine, and the lysosomotropic agent chloroquine, indicating an atypical feature of autophagy. Furthermore, prolonged inhibition of the major food vacuole protease activity by E64 and pepstatin did not cause accumulation of the Atg8-associated puncta in the food vacuole, suggesting that autophagy is primarily not meant for degradative function in malaria parasites. Atg8 showed partial colocalization with the apicoplast; doxycycline treatment, which disrupts apicoplast, did not affect Atg8 localization, suggesting a role, but not exclusive, in

  8. A RARE CASE OF ATYPICAL PRIMARY EWING’S SARCOMA OF OCCIPITAL BONE

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    K. Srihari

    2016-07-01

    Full Text Available BACKGROUND Ewing’s Sarcoma is an aggressive malignant neoplasm most frequently manifesting in the second decade of life and accounting for 4% of childhood and adolescent malignancies. These tumours were first described by James Ewing in 1921 as tumours that arise from bone. These osseous lesions have since become infamous for their highly aggressive course with 20% to 30% of patients having evidence of metastasis at the time of diagnosis and an estimated 10-year survival rate of 50%. Metastases to the CNS have most recently been estimated to occur in less than 5% of cases and are usually due to direct extension of an osseous lesion into the extradural space or more rarely through haematogenous spread. CASE REPORT In this article, we report a case of 17-year-old boy who presented to the radiology department with complaints of recurrent episodes of headache and vomiting for the past 3 days. On radiological investigation, there was a large well-defined, lobulated, extra-axial mass lesion measuring 3.6 X 5.7 X 5.9 cm noted in the supratentorial left occipital region which was fairly enhancing after contrast administration. The mass was causing permeative type of destruction of the left occipital bone and extending into extracranial soft tissue. Final diagnosis was done by biopsy and histopathology which showed “Atypical Ewing’s Sarcoma” of the left occipital bone. Considering its unusual site and soft tissue extension, we report this case of Primary Atypical Ewing’s sarcoma of occipital bone. CONCLUSION Primary cranial Ewing's sarcoma is to be considered in the differential diagnosis in children with a tumour involving the skull with destruction of the bone and presence of extra-axial soft tissue swelling. CT is the excellent modality for demonstration of bone destruction while MRI depicts soft tissue extension and metastasis if any.

  9. Antibiotic associated diarrhoea: Infectious causes

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    Ayyagari A

    2003-01-01

    Full Text Available Nearly 25% of antibiotic associated diarrhoeas (AAD is caused by Clostridium difficile, making it the commonest identified and treatable pathogen. Other pathogens implicated infrequently include Clostridium perfringens, Staphylococcus aureus, Klebsiella oxytoca, Candida spp. and Salmonella spp. Most mild cases of AAD are due to non-infectious causes which include reduced break down of primary bile acids and decrease metabolism of carbohydrates, allergic or toxic effects of antibiotic on intestinal mucosa and pharmacological effect on gut motility. The antibiotics most frequently associated with C. difficile associated diarrhoea are clindamycin, cephalosporin, ampicillin and amoxicillin. Clinical presentation may vary from mild diarrhoea to severe colitis and pseudomembranous colitis associated with high morbidity and mortality. The most sensitive and specific diagnostic test for C. difficile infection is tissue culture assay for cytotoxicity of toxin B. Commercial ELISA kits are available. Though less sensitive, they are easy to perform and are rapid. Withdrawal of precipitating antibiotic is all that is needed for control of mild to moderate cases. For severe cases of AAD, oral metronidazole is the first line of treatment, and oral vancomycin is the second choice. Probiotics have been used for recurrent cases.

  10. Evaluation of the human transmission risk of an atypical bovine spongiform encephalopathy prion strain.

    Science.gov (United States)

    Kong, Qingzhong; Zheng, Mengjie; Casalone, Cristina; Qing, Liuting; Huang, Shenghai; Chakraborty, Bikram; Wang, Ping; Chen, Fusong; Cali, Ignazio; Corona, Cristiano; Martucci, Francesca; Iulini, Barbara; Acutis, Pierluigi; Wang, Lan; Liang, Jingjing; Wang, Meiling; Li, Xinyi; Monaco, Salvatore; Zanusso, Gianluigi; Zou, Wen-Quan; Caramelli, Maria; Gambetti, Pierluigi

    2008-04-01

    Bovine spongiform encephalopathy (BSE), the prion disease in cattle, was widely believed to be caused by only one strain, BSE-C. BSE-C causes the fatal prion disease named new variant Creutzfeldt-Jacob disease in humans. Two atypical BSE strains, bovine amyloidotic spongiform encephalopathy (BASE, also named BSE-L) and BSE-H, have been discovered in several countries since 2004; their transmissibility and phenotypes in humans are unknown. We investigated the infectivity and human phenotype of BASE strains by inoculating transgenic (Tg) mice expressing the human prion protein with brain homogenates from two BASE strain-infected cattle. Sixty percent of the inoculated Tg mice became infected after 20 to 22 months of incubation, a transmission rate higher than those reported for BSE-C. A quarter of BASE strain-infected Tg mice, but none of the Tg mice infected with prions causing a sporadic human prion disease, showed the presence of pathogenic prion protein isoforms in the spleen, indicating that the BASE prion is intrinsically lymphotropic. The pathological prion protein isoforms in BASE strain-infected humanized Tg mouse brains are different from those from the original cattle BASE or sporadic human prion disease. Minimal brain spongiosis and long incubation times are observed for the BASE strain-infected Tg mice. These results suggest that in humans, the BASE strain is a more virulent BSE strain and likely lymphotropic.

  11. Critical appraisal of eculizumab for atypical hemolytic uremic syndrome

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    Palma LMP

    2016-04-01

    Full Text Available Lilian M Pereira Palma,1 Craig B Langman2  1Pediatric Nephrology, State University of Campinas (UNICAMP, Campinas, São Paulo, Brazil; 2The Feinberg School of Medicine, Northwestern University, and the Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA Abstract: The biology of atypical hemolytic uremic syndrome has been shown to involve inability to limit activation of the alternative complement pathway, with subsequent damage to systemic endothelial beds and the vasculature, resulting in the prototypic findings of a thrombotic microangiopathy. Central to this process is the formation of the terminal membrane attack complex C5b-9. Recently, application of a monoclonal antibody that specifically binds to C5, eculizumab, became available to treat patients with atypical hemolytic uremic syndrome, replacing plasma exchange or infusion as primary therapy. This review focuses on the evidence, based on published clinical trials, case series, and case reports, on the efficacy and safety of this approach. Keywords: acute kidney injury, ESRD, thrombotic microangiopathy, kidney, alternative complement pathway, complement blockade

  12. Liver-kidney transplantation to cure atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Saland, Jeffrey M; Ruggenenti, Piero; Remuzzi, Giuseppe

    2009-05-01

    Atypical hemolytic uremic syndrome is often associated with mutations in genes encoding complement regulatory proteins and secondary disorders of complement regulation. Progression to kidney failure and recurrence with graft loss after kidney transplantation are frequent. The most common mutation is in the gene encoding complement factor H. Combined liver-kidney transplantation may correct this complement abnormality and prevent recurrence when the defect involves genes encoding circulating proteins that are synthesized in the liver, such as factor H or I. Good outcomes have been reported when surgery is associated with intensified plasma therapy. A consensus conference to establish treatment guidelines for atypical hemolytic uremic syndrome was held in Bergamo in December 2007. The recommendations in this article are the result of combined clinical experience, shared research expertise, and a review of the literature and registry information. This statement defines groups in which isolated kidney transplantation is extremely unlikely to be successful and a combined liver-kidney transplant is recommended and also defines those for whom kidney transplant remains a viable option. Although combined liver-kidney or isolated liver transplantation is the preferred therapeutic option in many cases, the gravity of risk associated with the procedure has not been eliminated completely, and assessment of risk and benefit requires careful and individual attention.

  13. Neurological involvement in a child with atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Koehl, Bérengère; Boyer, Olivia; Biebuyck-Gougé, Nathalie; Kossorotoff, Manoelle; Frémeaux-Bacchi, Véronique; Boddaert, Nathalie; Niaudet, Patrick

    2010-12-01

    We report the case of a 4-year-old boy, diagnosed with atypical hemolytic uremic syndrome (HUS) due to a hybrid factor H. He progressed to end-stage renal failure despite plasmatherapy and underwent bilateral nephrectomy because of uncontrolled hypertension. Three days after, he had partial complex seizures with normal blood pressure, normal blood count and normal magnetic resonance imaging (MRI), which recurred 1 month later. Eight months later, he had a third episode of seizures, with hemoglobin of 10 g/dl without schizocytes, low haptoglobin of 0.18 g/l, and moderate thrombocytopenia (platelets 98 × 10(9)/l). He remained hypertensive and deeply confused for 2 days. The third MRI showed bilateral symmetrical hyperintensities of the cerebral pedunculas, caudate nuclei, putamens, thalami, hippocampi, and insulae suggesting thrombotic microangiopathy secondary to a relapse of HUS rather than reversible posterior leukoencephalopathy syndrome (RPLS), usually occipital and asymmetrical. Plasmatherapy led to a complete neurological recovery within 2 days although hypertension had remained uncontrolled. The fourth MRI 10 weeks after, on maintenance plasmatherapy, was normal and clinical examination remained normal, except for high blood pressure. In conclusion, brain MRI allows differentiating thrombotic microangiopathy lesions from RPLS in atypical HUS, which is crucial since lesions may be reversible with plasmatherapy.

  14. Atypical relapse of hemolytic uremic syndrome after transplantation.

    Science.gov (United States)

    Olie, Karolien H; Florquin, Sandrine; Groothoff, Jaap W; Verlaak, René; Strain, Lisa; Goodship, Timothy H J; Weening, Jan J; Davin, Jean-Claude

    2004-10-01

    Atypical hemolytic uremic syndrome (HUS) frequently leads to end-stage renal failure and can relapse after transplantation. A 12-year-old girl presenting with familial atypical HUS with a factor H mutation was successfully transplanted 6 years after a first transplant that had failed because of immediate recurrent HUS. Prophylactic plasma exchange before and after transplantation was used. Two months after transplantation, concomitant with a reduction in plasma exchange frequency, the plasma creatinine increased from 70 micro mol/l to 194 micro mol/l in 2 weeks without thrombocytopenia or signs of hemolytic anemia. The patient had minimal clinical symptoms and a presumptive diagnosis of graft rejection was made. Despite treatment with six daily pulses of methylprednisolone, plasma creatinine continued to increase and a graft biopsy was therefore undertaken. This showed the typical appearance of a thrombotic microangiopathy without any evidence of rejection. Despite daily plasmapheresis and replacement of cyclosporine with tacrolimus, there was no improvement and transplant nephrectomy was undertaken. This patient demonstrates that HUS can recur in a kidney transplant without the diagnostic hematological features and emphasizes the need for early transplant biopsy in such patients showing a decline in transplant function.

  15. Atypical streptococcal infection of gingiva associated with chronic mouth breathing.

    Science.gov (United States)

    Haytac, M Cenk; Oz, I Attila

    2007-01-01

    Streptococcal infections of oral tissues are mainly seen in young children who experience a variety of upper respiratory tract infections. The disease is characterized by fever, lymphadenopathy, and ulcers on the gingiva, lips, and tonsils. This case report presents an atypical streptococcal infection of the gingiva in an 18-year-old man. The patient was referred to the periodontology department complaining of a 2-month history of gingival enlargement. He had persistent fever (39.5 degrees C) and general malaise for 2 weeks. Intraoral examination revealed extremely inflamed and enlarged gingiva with spontaneous bleeding and suppuration. Based on the otolaryngologic consultation and the hematologic, immunologic, and microbiologic tests, the final diagnosis was an atypical streptococcal gingivitis with chronic adenoid-related mouth breathing and oral hygiene neglect as contributing factors. Treatment consisted of a broad-spectrum antibiotic regimen, supragingival and subgingival debridement, adenoidectomy, and scaling and root planing. A good response to nonsurgical therapy was achieved despite poor patient compliance, and no recurrence of gingival enlargement was observed after 1 year. Streptococcal gingivitis should be included in the differential diagnosis of suppurative gingival enlargements. Furthermore, chronic mouth breathing may initiate and/or contribute to this disease.

  16. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15

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    Sigman Marian

    2008-01-01

    Full Text Available Abstract Background Maternally-derived duplications that include the imprinted region on the proximal long arm of chromosome 15 underlie a complex neurobehavioral disorder characterized by cognitive impairment, seizures and a substantial risk for autism spectrum disorders1. The duplications most often take the form of a supernumerary pseudodicentric derivative chromosome 15 [der(15] that has been called inverted duplication 15 or isodicentric 15 [idic(15], although interstitial rearrangements also occur. Similar to the deletions found in most cases of Angelman and Prader Willi syndrome, the duplications appear to be mediated by unequal homologous recombination involving low copy repeats (LCR that are found clustered in the region. Five recurrent breakpoints have been described in most cases of segmental aneuploidy of chromosome 15q11-q13 and previous studies have shown that most idic(15 chromosomes arise through BP3:BP3 or BP4:BP5 recombination events. Results Here we describe four duplication chromosomes that show evidence of atypical recombination events that involve regions outside the common breakpoints. Additionally, in one patient with a mosaic complex der(15, we examined homologous pairing of chromosome 15q11-q13 alleles by FISH in a region of frontal cortex, which identified mosaicism in this tissue and also demonstrated pairing of the signals from the der(15 and the normal homologues. Conclusion Involvement of atypical BP in the generation of idic(15 chromosomes can lead to considerable structural heterogeneity.

  17. Current status of atypical antipsychotics for the treatment of fibromyalgia.

    Science.gov (United States)

    Rico-Villademoros, F; Calandre, E P; Slim, M

    2014-06-01

    The treatment of fibromyalgia requires pharmacological and nonpharmacological therapies. The pharmacological treatment of fibromyalgia is limited to a few drugs that have been demonstrated to be moderately effective in some but not all dimensions of the disease. Therefore, the search for new drugs to treat this condition is warranted. Atypical antipsychotics offered an attractive alternative because they had been shown to be active against several key symptoms of fibromyalgia. The results of open-label studies, however, appear to indicate that atypical antipsychotics are poorly tolerated in patients with fibromyalgia, and only quetiapine XR has been studied in randomized controlled trials. Quetiapine XR has demonstrated effectiveness in treating comorbid major depression, anxiety and sleep disturbance. However, in two randomized controlled trials, quetiapine XR was not differentiated from placebo and failed to demonstrate noninferiority to amitriptyline in terms of improving overall symptomatology. The effect of quetiapine XR on pain and its usefulness as part of a combination pharmacological regimen should be further evaluated. Overall, the use of quetiapine (initiated at a low dose and slowly titrated) in fibromyalgia should be limited to patients with comorbid major depression or patients who are currently receiving other treatments and have unresolved and disabling depressive and/or anxiety symptoms.

  18. Fungal rhinosinusitis with atypical presentation - a report of two cases

    Institute of Scientific and Technical Information of China (English)

    Rafael da Costa Monsanto; Rodrigo Silva Orem; Fernanda Resende e Silva; Fabio Hiroshi Okuyama; Fabio Tadeu Moura Lorenzetti

    2015-01-01

    Rhinosinusitis affects approximately 20% of the population, and the chronic rhinosinusitis represents over 90% of all cases of rhinosinusitis. The correct diagnosis is important for proper treatment and to predict its evolution. This study presents two cases of atypical frontal sinus disease, which the follow-up revealed a diagnosis of fungal rhinosinusitis. The present study aims to describe the cases of two patients with atypical lesions on the left frontal sinus; the treatment options, surgical approach, results, diagnosis and follow-up are further discussed. A significant increase in the reported cases of fungal rhinosinusitis has been seen in the last two decades, justified by the use of broad-spectrum antibiotics and steroids, as well as the increased number of immunocompromised individuals. This study reports the cases of two patients with a type of fungal rhinosinusitis named "fungal ball", characterized by a tangle of hyphae in the sinuses without tissue invasion. The treatment included surgical removal of the fungal infectious process with aeration of the affected sinus, and the procedure was successfully performed in our patients.

  19. Benign occipital lobe seizures: Natural progression and atypical evolution

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    Prithika Chary

    2013-01-01

    Full Text Available Benign occipital seizure syndromes are benign childhood epilepsy syndromes and are mainly of two types, Panayiotopoulos syndrome, an autonomic epilepsy and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G including the idiopathic photosensitive occipital lobe epilepsy. Although both these types are categorized as occipital seizures, they are distinct in presentation and management. They can also be tricky to diagnose as visual symptoms may not always be the presenting feature and it is also not very easy to elicit visual hallucinations during history taking. These seizures have a good response to treatment; however, there could be atypical evolution and refractoriness to treatment especially with ICOE-G. We describe three children who presented with visual and non-visual symptoms and the electroencephalography (EEG in all the three cases showed occipital paroxysms. We have emphasized the clues in the clinical history and EEG leading to the diagnosis of these distinct epilepsy syndromes. We have also discussed the natural course of these epilepsy syndromes with some atypical evolution, which clinicians need to be aware of during treatment of these children.

  20. Differentiation of regions with atypical oligonucleotide composition in bacterial genomes

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    Reva Oleg N

    2005-10-01

    Full Text Available Abstract Background Complete sequencing of bacterial genomes has become a common technique of present day microbiology. Thereafter, data mining in the complete sequence is an essential step. New in silico methods are needed that rapidly identify the major features of genome organization and facilitate the prediction of the functional class of ORFs. We tested the usefulness of local oligonucleotide usage (OU patterns to recognize and differentiate types of atypical oligonucleotide composition in DNA sequences of bacterial genomes. Results A total of 163 bacterial genomes of eubacteria and archaea published in the NCBI database were analyzed. Local OU patterns exhibit substantial intrachromosomal variation in bacteria. Loci with alternative OU patterns were parts of horizontally acquired gene islands or ancient regions such as genes for ribosomal proteins and RNAs. OU statistical parameters, such as local pattern deviation (D, pattern skew (PS and OU variance (OUV enabled the detection and visualization of gene islands of different functional classes. Conclusion A set of approaches has been designed for the statistical analysis of nucleotide sequences of bacterial genomes. These methods are useful for the visualization and differentiation of regions with atypical oligonucleotide composition prior to or accompanying gene annotation.

  1. Breast Metastases from Extramammary Malignancies: Typical and Atypical Ultrasound Features

    Energy Technology Data Exchange (ETDEWEB)

    Mun, Sung Hee [Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710 (Korea, Republic of); Department of Radiology, Catholic University of Daegu College of Medicine, Daegu 712-702 (Korea, Republic of); Ko, Eun Young; Han, Boo-Kyung; Shin, Jung Hee [Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710 (Korea, Republic of); Kim, Suk Jung [Department of Radiology, Inje University College of Medicine, Busan Paik Hospital, Busan 614-735 (Korea, Republic of); Cho, Eun Yoon [Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710 (Korea, Republic of)

    2014-07-01

    Breast metastases from extramammary malignancies are uncommon. The most common sources are lymphomas/leukemias and melanomas. Some of the less common sources include carcinomas of the lung, ovary, and stomach, and infrequently, carcinoid tumors, hypernephromas, carcinomas of the liver, tonsil, pleura, pancreas, cervix, perineum, endometrium and bladder. Breast metastases from extramammary malignancies have both hematogenous and lymphatic routes. According to their routes, there are common radiological features of metastatic diseases of the breast, but the features are not specific for metastases. Typical ultrasound (US) features of hematogenous metastases include single or multiple, round to oval shaped, well-circumscribed hypoechoic masses without spiculations, calcifications, or architectural distortion; these masses are commonly located superficially in subcutaneous tissue or immediately adjacent to the breast parenchyma that is relatively rich in blood supply. Typical US features of lymphatic breast metastases include diffusely and heterogeneously increased echogenicities in subcutaneous fat and glandular tissue and a thick trabecular pattern with secondary skin thickening, lymphedema, and lymph node enlargement. However, lesions show variable US features in some cases, and differentiation of these lesions from primary breast cancer or from benign lesions is difficult. In this review, we demonstrate various US appearances of breast metastases from extramammary malignancies as typical and atypical features, based on the results of US and other imaging studies performed at our institution. Awareness of the typical and atypical imaging features of these lesions may be helpful to diagnose metastatic lesions of the breast.

  2. Neuropsychological changes in melancholic and atypical depression: A systematic review.

    Science.gov (United States)

    Bosaipo, Nayanne Beckmann; Foss, Maria Paula; Young, Allan H; Juruena, Mario Francisco

    2017-02-01

    There is not a consensus as to whether neuropsychological profiling can distinguish depressive subtypes. We aimed to systematically review and critically analyse the literature on cognitive function in patients with melancholic and atypical depression. We searched in databases PubMed, SCOPUS, Web of Knowledge and PsycInfo for papers comparing the neuropsychological performance of melancholic patients (MEL) to non-melancholic depressive patients (NMEL), including atypical depressives, and healthy controls (HC). All studies were scrutinised to determine the main methodological characteristics and particularly possible sources of bias influencing the results reported, using the STROBE statement checklist. We also provide effect size of the results reported for contrasts between MEL; patients and NMEL patients. Seventeen studies were included; most of them demonstrated higher neuropsychological impairments of MEL patients compared to both NMEL patients and HC on tasks requiring memory, executive function, attention and reaction time. Detailed analysis of the methodologies used in the studies revealed significant variability especially regarding the participants' sociodemographic characteristics, clinical characteristics of patients and differences in neuropsychological assessment. These findings suggest that MEL may have a distinct and impaired cognitive performance compared to NMEL depressive patients on tasks involving verbal and visual memory, executive function, sustained attention and span, as well as psychomotor speed, this last especially when cognitive load is increased. Additional studies with adequate control of potentially confounding variables will help to clarify further differences in the neuropsychological functioning of depressive subtypes.

  3. The influence of atypical antipsychotic drugs on sexual function

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    Just MJ

    2015-07-01

    Full Text Available Marek J Just Department of General and Endocrine Surgery, Piekary Medical Centre, Piekary Slaskie, Poland Abstract: Human sexuality is contingent upon many biological and psychological factors. Such factors include sexual drive (libido, physiological arousal (lubrication/erection, orgasm, and ejaculation, as well as maintaining normal menstrual cycle. The assessment of sexual dysfunction can be difficult due to the intimate nature of the problem and patients’ unwillingness to discuss it. Also, the problem of dysfunction is often overlooked by doctors. Atypical antipsychotic treatment is a key component of mental disorders’ treatment algorithms recommended by the National Institute of Health and Clinical Excellence, the American Psychiatric Association, and the British Society for Psychopharmacology. The relationship between atypical antipsychotic drugs and sexual dysfunction is mediated in part by antipsychotic blockade of pituitary dopamine D2 receptors increasing prolactin secretion, although direct correlations have not been established between raised prolactin levels and clinical symptoms. Variety of mechanisms are likely to contribute to antipsychotic-related sexual dysfunction, including hyperprolactinemia, sedation, and antagonism of a number of neurotransmitter receptors (α-adrenergic, dopaminergic, histaminic, and muscarinic. Maintaining normal sexual function in people treated for mental disorders can affect their quality of life, mood, self-esteem, attitude toward taking medication, and compliance during therapy. Keywords: schizophrenia, galactorrhea, hyperprolactinemia, mood disorders, anorgasmia

  4. Mild cognitive impairment: safe to drive?

    Science.gov (United States)

    Olsen, Kirsty; Taylor, John-Paul; Thomas, Alan

    2014-06-01

    Driving is an important aspect of daily living and for many older people provides autonomy and psycho-social benefits. Cognitive impairment has been found to impact driving skills at the level of dementia, however, uncertainty remains around the impact of a diagnosis of the pre-dementia condition mild cognitive impairment. Current official guidelines are unclear, and assessment of fitness to drive can be problematical. This editorial examines current official guidance available to the clinician and problems with existing assessment as well as the current position of research specifically into MCI and driving, and considers future direction for research in this field.

  5. Mild cognitive impairment in Parkinson's disease

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    LUO Xiao-guang

    2013-08-01

    Full Text Available Cognitive impairment is one of the most common non-motor symptoms of Parkinson's disease (PD and a major influencing factor on patients' daily living ability. Mild cognitive impairment (MCI is a cognitive state between normal aging and dementia, and the living capability of MCI patients relatively remains. MCI often occurs in PD, with its clinical features presenting as the impairment in working memory and (or attention, executive function, language ability, memory and visuospatial function. Here we try to depict the general picture of PD-MCI from the view of epidemiology, pathology, clinical presentation, imaging and diagnostic criteria.

  6. Mild Traumatic Brain Injury in Translation

    OpenAIRE

    Levin, Harvey S.; Robertson, Claudia S.

    2013-01-01

    This Introduction to a Special Issue on Mild Traumatic Brain Injury (mTBI) highlights the methodological challenges in outcome studies and clinical trials involving patients who sustain mTBI. Recent advances in brain imaging and portable, computerized cognitive tasks have contributed to protocols that are sensitive to the effects of mTBI and efficient in time for completion. Investigation of civilian mTBI has been extended to single and repeated injuries in athletes and blast-related mTBI in ...

  7. Semiautomatic MDF deburring tool. [Mild detonating fuse

    Energy Technology Data Exchange (ETDEWEB)

    Simonton, W.L.

    1976-03-31

    A device for semiautomatically deburring the ends of lengths of MDF (mild detonating fuse) was developed by the Automation Development group at Mound Laboratory. The device performs the deburring function by cutting a 0.002 in. x 0.002 in. chamfer on the MDF with small rotating blades. This air-operated, semiautomatic device provides improvement over the manual method of removing burrs by reduction in time and operator strain. A time study is underway to determine the time saved which is expected to be about 75 percent.

  8. Diagnostic utility of Fli-1 and D2-40 in distinguishing atypical fibroxanthoma from angiosarcoma.

    Science.gov (United States)

    Cuda, Jonathan; Mirzamani, Neda; Kantipudi, Ramya; Robbins, Jason; Welsch, Micheal Jude; Sundram, Uma N

    2013-05-01

    Although in most cases one can easily distinguish between atypical fibroxanthomas and angiosarcomas, hemorrhagic atypical fibroxanthomas can pose a diagnostic problem. In rare cases, the large atypical cells of atypical fibroxanthoma can stain with CD31, leading to the erroneous diagnosis of angiosarcoma. We elected to further study this conundrum with 2 additional markers of lymphatic and vascular elements, namely D2-40 (podoplanin) and Fli-1, respectively. We studied 26 cases of atypical fibroxanthoma and 20 cases of angiosarcoma with Fli-1 and D2-40. We found that both Fli-1 and D2-40 stained a majority of cases of angiosarcoma (16/20 and 12/20, respectively), although only staining a minority of cases of atypical fibroxanthoma (8/26 for both). In addition, D2-40 staining of atypical fibroxanthoma was usually weak when positive, whereas Fli-1 staining of angiosarcomas was mostly strong and nuclear. Thus, both D2-40 and Fli-1 seem to be useful in distinguishing between atypical fibroxanthomas and angiosarcomas.

  9. Effects of Physical Atypicality on Children's Social Identities and Intergroup Attitudes

    Science.gov (United States)

    Patterson, Meagan M.; Bigler, Rebecca S.

    2007-01-01

    Individuals vary in the degree to which they are representative, or typical, of their social groups. To investigate the effects of atypicality on intergroup attitudes, elementary-school-age children (N = 97) attending a summer school program were assigned to novel color groups that included typical (blue or green) and atypical (light blue or light…

  10. Viral and atypical bacterial infections in the outpatient pediatric cystic fibrosis clinic

    DEFF Research Database (Denmark)

    Olesen, Hanne Vebert; Nielsen, Lars P; Schiotz, Peter Oluf

    2006-01-01

    culture were recorded. RESULTS: Ninety-seven viral and 21 atypical bacterial infections were found. FEV-1 was significantly reduced during viral infection (-12.5%, p=0.048), with the exception of rhinovirus infection. A small change in FEV-1 (-3%) was seen during atypical bacterial infection (p=0...

  11. Behavioral Activation for the Treatment of Atypical Depression: A Pilot Open Trial

    Science.gov (United States)

    Weinstock, Lauren M.; Munroe, Mary K.; Miller, Ivan W.

    2011-01-01

    Psychosocial interventions for atypical depression (AD) have been relatively ignored in the clinical research literature, despite evidence that the atypical subtype of major depression is marked by earlier age of onset, longer duration of mood episode, greater symptom severity, and poorer response to pharmacologic treatment. Given the symptom…

  12. Atypical speech and language development: a consensus study on clinical signs in the Netherlands

    NARCIS (Netherlands)

    Visser-Bochane, Margot I.; Gerrits, Ellen; Schans, Cees P. van der; Reijneveld, Sijmen A.; Luinge, Margreet R.

    2016-01-01

    Background: Atypical speech and language development is one of the most common developmental difficulties in young children. However, which clinical signs characterize atypical speech–language development at what age is not clear. Aim: To achieve a national and valid consensus on clinical signs and

  13. Atypical speech and language development : a consensus study on clinical signs in the Netherlands

    NARCIS (Netherlands)

    Visser-Bochane, Margot I; Gerrits, Ellen; van der Schans, Cees P; Reijneveld, Sijmen A; Luinge, Margreet R

    2016-01-01

    BACKGROUND: Atypical speech and language development is one of the most common developmental difficulties in young children. However, which clinical signs characterize atypical speech-language development at what age is not clear. AIM: To achieve a national and valid consensus on clinical signs and

  14. The relationship between atypical visual processing and social skills in young children with autism

    NARCIS (Netherlands)

    Hellendoorn, A.; Langstraat, I.; Wijnroks, L.; Buitelaar, J.; Daalen, E. van; Leseman, P.P.

    2014-01-01

    The present study examined whether atypical visual processing is related to the level of social skills in children with autism spectrum disorder (ASD). Thirty-eight young children with ASD (29 boys, 9 girls) were included. Atypical visual processing was assessed by coding the number of lateral glanc

  15. Atypical Speech and Language Development: A Consensus Study on Clinical Signs in the Netherlands

    Science.gov (United States)

    Visser-Bochane, Margot I.; Gerrits, Ellen; van der Schans, Cees P.; Reijneveld, Sijmen A.; Luinge, Margreet R.

    2017-01-01

    Background: Atypical speech and language development is one of the most common developmental difficulties in young children. However, which clinical signs characterize atypical speech-language development at what age is not clear. Aim: To achieve a national and valid consensus on clinical signs and red flags (i.e. most urgent clinical signs) for…

  16. Traditional and Atypical Presentations of Anxiety in Youth with Autism Spectrum Disorder

    Science.gov (United States)

    Kerns, Connor Morrow; Kendall, Philip C.; Berry, Leandra; Souders, Margaret C.; Franklin, Martin E.; Schultz, Robert T.; Miller, Judith; Herrington, John

    2014-01-01

    We assessed anxiety consistent (i.e., "traditional") and inconsistent (i.e., "atypical") with diagnostic and statistical manual (DSM) definitions in autism spectrum disorder (ASD). Differential relationships between traditional anxiety, atypical anxiety, child characteristics, anxiety predictors and ASD-symptomology were…

  17. Mild behavioral impairment and risk of dementia

    Science.gov (United States)

    Taragano, FE; Allegri, RF; Krupitzki, H; Sarasola, D; Serrano, CM; Loñ, L; Lyketsos, CG

    2009-01-01

    Background Mild cognitive impairment (MCI) is a transitional state between normal ageing and dementia, at least for some patients. Behavioral symptoms in MCI are associated with a higher risk of dementia, but their association with dementia risk in patients without MCI is unknown. Mild Behavioral Impairment (MBI) refers to a late life syndrome with prominent psychiatric and related behavioral symptoms in the absence of prominent cognitive symptoms, which may also be a dementia prodrome. Objective To compare MCI and MBI patients and to estimate the risk of dementia development in these two groups. Method A consecutive series of 358 patients (239 with MCI; and 119 with MBI) presenting to an outpatient general hospital specialty clinic were followed for up to 5 years until conversion to dementia or censoring. Results 34% of MCI patients and over 70% of patients with MBI developed dementia (Logrank p=0.011). MBI patients without cognitive symptoms were more likely to develop dementia (Logrank p<0.001). MBI patients were more likely to develop dementia due to frontotemporal degeneration (FTD) as opposed to Alzheimer’s dementia (AD). Conclusion MBI appears to be a transitional state between normal ageing and dementia. MBI (specifically those without cognitive symptoms) may confer a higher risk for dementia than MCI and is likely an FTD prodrome in many cases. These findings have implications for the early detection, prevention, and treatment of patients with dementia in late life, by focusing on the emergence of new behavioral symptoms. PMID:19323967

  18. DESIGN AND DEVELOPMENT OF MILD COMBUSTION BURNER

    Directory of Open Access Journals (Sweden)

    M.M. Noor

    2013-12-01

    Full Text Available This paper discusses the design and development of the Moderate and Intense Low oxygen Dilution (MILD combustion burner using Computational Fluid Dynamics (CFD simulations. The CFD commercial package was used to simulate preliminary designs for the burner before the final design was sent to the workshop for fabrication. The burner is required to be a non-premixed and open burner. To capture and use the exhaust gas, the burner was enclosed within a large circular shaped wall with an opening at the top. An external EGR pipe was used to transport the exhaust gas which was mixed with the fresh oxidant. To control the EGR and exhaust flow, butterfly valves were installed at the top opening as a damper to close the exhaust gas flow at a certain ratio for EGR and exhaust out to the atmosphere. High temperature fused silica glass windows were installed to view and capture images of the flame and analyze the flame propagation. The burner simulation shows that MILD combustion was achieved for the oxygen mole fraction of 3-13%. The final design of the burner was fabricated and ready for the experimental validation.

  19. An Unusual Cause of Postpartum Heart Failure

    Science.gov (United States)

    Khaddash, Ibrahim; Hawatmeh, Amer; Altheeb, Zaid; Hamdan, Aiman; Shamoon, Fayez

    2017-01-01

    Peripartum cardiomyopathy is a weakness of the heart muscle. It is an idiopathic cardiomyopathy that presents with heart failure secondary to left ventricular systolic dysfunction toward the end of pregnancy or in the months after delivery, in the absence of any other cause of heart failure. It is a rare condition that can carry mild or severe symptoms. PMID:28074806

  20. An unusual cause of postpartum heart failure

    Directory of Open Access Journals (Sweden)

    Ibrahim Khaddash

    2017-01-01

    Full Text Available Peripartum cardiomyopathy is a weakness of the heart muscle. It is an idiopathic cardiomyopathy that presents with heart failure secondary to left ventricular systolic dysfunction toward the end of pregnancy or in the months after delivery, in the absence of any other cause of heart failure. It is a rare condition that can carry mild or severe symptoms.

  1. Predicting the coexistence of an endometrial adenocarcinoma in the presence of atypical complex hyperplasia: immunohistochemical analysis of endometrial samples

    NARCIS (Netherlands)

    Robbe, E.J.; Kuijk, S.M. van; Boed, E.M. de; Smits, L.J.; Wurff, A.A. van der; Kruitwagen, R.F.P.M.; Pijnenborg, J.M.A.

    2012-01-01

    OBJECTIVE: This study aimed to determine whether immunohistochemical markers in complex atypical endometrial hyperplasia could predict the presence of a concurrent endometrial carcinoma. METHODS: Endometrial biopsies of 39 patients with complex atypical hyperplasia were selected retrospectively betw

  2. $\\mathcal{N}=2$ supersymmetric field theories on 3-manifolds with A-type boundaries

    CERN Document Server

    Aprile, Francesco

    2016-01-01

    General half-BPS A-type boundary conditions are formulated for N=2 supersymmetric field theories on compact 3-manifolds with boundary. We observe that under suitable conditions manifolds of the real A-type admitting two complex supersymmetries (related by charge conjugation) possess, besides a contact structure, a natural integrable toric foliation. A boundary, or a general co-dimension-1 defect, can be inserted along any leaf of this preferred foliation to produce manifolds with boundary that have the topology of a solid torus. We show that supersymmetric field theories on such manifolds can be endowed with half-BPS A-type boundary conditions. We specify the natural curved space generalization of the A-type projection of bulk supersymmetries and analyze the resulting A-type boundary conditions in generic 3d non-linear sigma models and YM/CS-matter theories.

  3. Gender Atypicality and Anxiety Response to Social Interaction Stress in Homosexual and Heterosexual Men.

    Science.gov (United States)

    Jacobson, Roi; Cohen, Hagit; Diamond, Gary M

    2016-04-01

    Gender non-conforming behavior and a homosexual sexual orientation have both been linked to higher levels of anxiety. This study examined the independent and interactive effects of gender atypicality and sexual orientation on levels of state anxiety immediately following a stressful social interaction task among a sample of homosexual and heterosexual Israeli men (n = 36). Gender atypicality was measured via both self-report and observer ratings. State anxiety was measured via both self-report immediately subsequent to the stressful social interaction task and pre- to post task changes in salivary cortisol. Results showed that self-reported gender atypicality and heterosexual sexual orientation predicted higher levels of self-reported social interaction anxiety, but not changes in cortisol. There were no sexual orientation by gender behavior interactions and there were no significant effects for observer rated gender atypicality. These findings suggest that gender atypicality, not homosexuality, place individuals at risk for increased anxiety.

  4. The atypical stimulant and nootropic modafinil interacts with the dopamine transporter in a different manner than classical cocaine-like inhibitors.

    Directory of Open Access Journals (Sweden)

    Kyle C Schmitt

    Full Text Available Modafinil is a mild psychostimulant with pro-cognitive and antidepressant effects. Unlike many conventional stimulants, modafinil has little appreciable potential for abuse, making it a promising therapeutic agent for cocaine addiction. The chief molecular target of modafinil is the dopamine transporter (DAT; however, the mechanistic details underlying modafinil's unique effects remain unknown. Recent studies suggest that the conformational effects of a given DAT ligand influence the magnitude of the ligand's reinforcing properties. For example, the atypical DAT inhibitors benztropine and GBR12909 do not share cocaine's notorious addictive liability, despite having greater binding affinity. Here, we show that the binding mechanism of modafinil is different than cocaine and similar to other atypical inhibitors. We previously established two mutations (W84L and D313N that increase the likelihood that the DAT will adopt an outward-facing conformational state--these mutations increase the affinity of cocaine-like inhibitors considerably, but have little or opposite effect on atypical inhibitor binding. Thus, a compound's WT/mutant affinity ratio can indicate whether the compound preferentially interacts with a more outward- or inward-facing conformational state. Modafinil displayed affinity ratios similar to those of benztropine, GBR12909 and bupropion (which lack cocaine-like effects in humans, but far different than those of cocaine, β-CFT or methylphenidate. Whereas treatment with zinc (known to stabilize an outward-facing transporter state increased the affinity of cocaine and methylphenidate two-fold, it had little or no effect on the binding of modafinil, benztropine, bupropion or GBR12909. Additionally, computational modeling of inhibitor binding indicated that while β-CFT and methylphenidate stabilize an "open-to-out" conformation, binding of either modafinil or bupropion gives rise to a more closed conformation. Our findings highlight a

  5. The genome of Chelonid herpesvirus 5 harbors atypical genes.

    Directory of Open Access Journals (Sweden)

    Mathias Ackermann

    Full Text Available The Chelonid fibropapilloma-associated herpesvirus (CFPHV; ChHV5 is believed to be the causative agent of fibropapillomatosis (FP, a neoplastic disease of marine turtles. While clinical signs and pathology of FP are well known, research on ChHV5 has been impeded because no cell culture system for its propagation exists. We have cloned a BAC containing ChHV5 in pTARBAC2.1 and determined its nucleotide sequence. Accordingly, ChHV5 has a type D genome and its predominant gene order is typical for the varicellovirus genus within the alphaherpesvirinae. However, at least four genes that are atypical for an alphaherpesvirus genome were also detected, i.e. two members of the C-type lectin-like domain superfamily (F-lec1, F-lec2, an orthologue to the mouse cytomegalovirus M04 (F-M04 and a viral sialyltransferase (F-sial. Four lines of evidence suggest that these atypical genes are truly part of the ChHV5 genome: (1 the pTARBAC insertion interrupted the UL52 ORF, leaving parts of the gene to either side of the insertion and suggesting that an intact molecule had been cloned. (2 Using FP-associated UL52 (F-UL52 as an anchor and the BAC-derived sequences as a means to generate primers, overlapping PCR was performed with tumor-derived DNA as template, which confirmed the presence of the same stretch of "atypical" DNA in independent FP cases. (3 Pyrosequencing of DNA from independent tumors did not reveal previously undetected viral sequences, suggesting that no apparent loss of viral sequence had happened due to the cloning strategy. (4 The simultaneous presence of previously known ChHV5 sequences and F-sial as well as F-M04 sequences was also confirmed in geographically distinct Australian cases of FP. Finally, transcripts of F-sial and F-M04 but not transcripts of lytic viral genes were detected in tumors from Hawaiian FP-cases. Therefore, we suggest that F-sial and F-M04 may play a role in FP pathogenesis.

  6. The genome of Chelonid herpesvirus 5 harbors atypical genes.

    Science.gov (United States)

    Ackermann, Mathias; Koriabine, Maxim; Hartmann-Fritsch, Fabienne; de Jong, Pieter J; Lewis, Teresa D; Schetle, Nelli; Work, Thierry M; Dagenais, Julie; Balazs, George H; Leong, Jo-Ann C

    2012-01-01

    The Chelonid fibropapilloma-associated herpesvirus (CFPHV; ChHV5) is believed to be the causative agent of fibropapillomatosis (FP), a neoplastic disease of marine turtles. While clinical signs and pathology of FP are well known, research on ChHV5 has been impeded because no cell culture system for its propagation exists. We have cloned a BAC containing ChHV5 in pTARBAC2.1 and determined its nucleotide sequence. Accordingly, ChHV5 has a type D genome and its predominant gene order is typical for the varicellovirus genus within the alphaherpesvirinae. However, at least four genes that are atypical for an alphaherpesvirus genome were also detected, i.e. two members of the C-type lectin-like domain superfamily (F-lec1, F-lec2), an orthologue to the mouse cytomegalovirus M04 (F-M04) and a viral sialyltransferase (F-sial). Four lines of evidence suggest that these atypical genes are truly part of the ChHV5 genome: (1) the pTARBAC insertion interrupted the UL52 ORF, leaving parts of the gene to either side of the insertion and suggesting that an intact molecule had been cloned. (2) Using FP-associated UL52 (F-UL52) as an anchor and the BAC-derived sequences as a means to generate primers, overlapping PCR was performed with tumor-derived DNA as template, which confirmed the presence of the same stretch of "atypical" DNA in independent FP cases. (3) Pyrosequencing of DNA from independent tumors did not reveal previously undetected viral sequences, suggesting that no apparent loss of viral sequence had happened due to the cloning strategy. (4) The simultaneous presence of previously known ChHV5 sequences and F-sial as well as F-M04 sequences was also confirmed in geographically distinct Australian cases of FP. Finally, transcripts of F-sial and F-M04 but not transcripts of lytic viral genes were detected in tumors from Hawaiian FP-cases. Therefore, we suggest that F-sial and F-M04 may play a role in FP pathogenesis.

  7. Infectious crystalline keratopathy caused by Cladosporium sp. after penetrating keratoplasty: a case report

    Directory of Open Access Journals (Sweden)

    Stock RA

    2016-08-01

    Full Text Available Ricardo Alexandre Stock,1 Elcio Luiz Bonamigo,2 Emeline Cadore,3 Rafael Allan Oechsler4 1Corneal Transplant Section, Santa Terezinha University Hospital, 2Department of Ophthalmology and Bioethics, 3University of Western Santa Catarina, Joaçaba, 4Cornea Department, Oftalmo Center Blumenau, Blumenau, Santa Catarina, Brazil Background: Infectious crystalline keratopathy is a rare, progressive infection characterized by the insidious progression of branches and crystalline corneal opacities with minimal or no inflammation. This case report describes the evolution of an infectious crystalline keratopathy caused by Cladosporium sp., which developed after tectonic keratoplasty in a patient with a history of ocular trauma.Case presentation: A 40-year-old Brazilian male was the victim of firework-induced trauma to the left eye, which resulted in a corneal laceration that could not be sutured as well as a severe traumatic cataract. The patient underwent penetrating keratoplasty and phacoemulsification. During postoperative follow-up, another therapeutic keratoplasty was required because unresponsive infectious keratitis was observed. The infiltrate’s characteristics were suggestive of infectious crystalline keratopathy; in particular, the infiltrate was insidious and progressive, and grayish-white branches appeared in the anterior corneal stroma. As different therapies were administered, inflammatory reactions ranging from mild to severe were observed. The infection was unresponsive to typical antifungal drugs. This lack of response most likely occurred due to steroid treatment and the diffuse corneal spread of an atypical microorganism, which was subsequently identified in culture as Cladosporium sp. After the second therapeutic keratoplasty, the patient’s eye integrity was successfully reestablished.Conclusion: This study likely provides the first report describing a case of infectious crystalline keratopathy caused by Cladosporium sp. This case

  8. The ENCOAL Mild Coal Gasification Project, A DOE Assessment

    Energy Technology Data Exchange (ETDEWEB)

    National Energy Technology Laboratory

    2002-03-15

    This report is a post-project assessment of the ENCOAL{reg_sign} Mild Coal Gasification Project, which was selected under Round III of the U.S. Department of Energy (DOE) Clean Coal Technology (CCT) Demonstration Program. The CCT Demonstration Program is a government and industry cofunded technology development effort to demonstrate a new generation of innovative coal utilization processes in a series of commercial-scale facilities. The ENCOAL{reg_sign} Corporation, a wholly-owned subsidiary of Bluegrass Coal Development Company (formerly SMC Mining Company), which is a subsidiary of Ziegler Coal Holding Company, submitted an application to the DOE in August 1989, soliciting joint funding of the project in the third round of the CCT Program. The project was selected by DOE in December 1989, and the Cooperative Agreement (CA) was approved in September 1990. Construction, commissioning, and start-up of the ENCOAL{reg_sign} mild coal gasification facility was completed in June 1992. In October 1994, ENCOAL{reg_sign} was granted a two-year extension of the CA with the DOE, that carried through to September 17, 1996. ENCOAL{reg_sign} was then granted a six-month, no-cost extension through March 17, 1997. Overall, DOE provided 50 percent of the total project cost of $90,664,000. ENCOAL{reg_sign} operated the 1,000-ton-per-day mild gasification demonstration plant at Triton Coal Company's Buckskin Mine near Gillette, Wyoming, for over four years. The process, using Liquids From Coal (LFC{trademark}) technology originally developed by SMC Mining Company and SGI International, utilizes low-sulfur Powder River Basin (PRB) coal to produce two new fuels, Process-Derived Fuel (PDF{trademark}) and Coal-Derived Liquids (CDL{trademark}). The products, as alternative fuel sources, are capable of significantly lowering current sulfur emissions at industrial and utility boiler sites throughout the nation thus reducing pollutants causing acid rain. In support of this overall

  9. Risk factors for atypical endometrial hyperplasia in infertile women:possible association with polycystic ovarv syndrome

    Institute of Scientific and Technical Information of China (English)

    Lu Qun; Shen Huan; Tian Li; Zhu Sainan; Chen Xi

    2008-01-01

    Objective:Endometrial hyperplasia is considered as a precursor of endometrial carcinoma,in which oncogenic potential is low in hyperplasia without atypia,but high in a-typical hyperplasia.The objective of this study was to identify the risk factors for atypical endo-metrial hyperplasia in infertile women.Methods:Fifty four infertile women with endometrial hy-perplasia,which were selected from a large cohort of 2 098 women who desired for the future childbearing in our center,were diagnosed by hysteroscopy with directed biopsies or dilation and curettage(D&C),including 44 with hyperplasia without atypia,10 with atypical hyperplasia.Clinical characteristics were recorded in terms of age,body mass index(BMI),parity,insulin resistance,polycystic ovary syndrome(PCOS).Statistical comparison was made between women with hyperplasia without atypia and atypical hyperplasia.Logistic regression analysis Was em-ployed to assess the contribution of PCOS,obesity and insulin resistance to atypical hyperplasia.Results:The incidence of endometrial hyperplasia in infertile women Was 2.57%(54/2098),which included 1 0 women(0.48%)were diagnosed as atypical hyperplasia.PCOS in women with atypical hyperplasia(70%,7/10)was significantly higher than those of hyperplasia with-out atypia(27.27%,12/44).Stepwise regression analysis showed that PCOS contributed maximally to atypical endometrial hyperplasia in infertile women.Conclusion:PCOS is an independent risk factor for atypical endometrial hyperplasia in women with infertility.The infertile women with PCOS are at an increased risk for atypical endometrial hyperplasia and endometrial cancer.

  10. Fine-tuning of defensive behaviors in the dorsal periaqueductal gray by atypical neurotransmitters

    Directory of Open Access Journals (Sweden)

    M.V. Fogaça

    2012-04-01

    Full Text Available This paper presents an up-to-date review of the evidence indicating that atypical neurotransmitters such as nitric oxide (NO and endocannabinoids (eCBs play an important role in the regulation of aversive responses in the periaqueductal gray (PAG. Among the results supporting this role, several studies have shown that inhibitors of neuronal NO synthase or cannabinoid receptor type 1 (CB1 receptor agonists cause clear anxiolytic responses when injected into this region. The nitrergic and eCB systems can regulate the activity of classical neurotransmitters such as glutamate and γ-aminobutyric acid (GABA that control PAG activity. We propose that they exert a ‘fine-tuning’ regulatory control of defensive responses in this area. This control, however, is probably complex, which may explain the usually bell-shaped dose-response curves observed with drugs that act on NO- or CB1-mediated neurotransmission. Even if the mechanisms responsible for this complex interaction are still poorly understood, they are beginning to be recognized. For example, activation of transient receptor potential vanilloid type-1 channel (TRPV1 receptors by anandamide seems to counteract the anxiolytic effects induced by CB1 receptor activation caused by this compound. Further studies, however, are needed to identify other mechanisms responsible for this fine-tuning effect.

  11. DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations.

    Science.gov (United States)

    Saha, Bidisha; Zitnik, Galynn; Johnson, Simon; Nguyen, Quyen; Risques, Rosa A; Martin, George M; Oshima, Junko

    2013-01-01

    Segmental progeroid syndromes are groups of disorders with multiple features suggestive of accelerated aging. One subset of adult-onset progeroid syndromes, referred to as atypical Werner syndrome, is caused by mutations in the LMNA gene, which encodes a class of nuclear intermediate filaments, lamin A/C. We previously described rapid telomere attrition and accelerated replicative senescence in cultured fibroblasts overexpressing mutant lamin A. In this study, we investigated the cellular phenotypes associated with accelerated telomere shortening in LMNA mutant primary fibroblasts. In early passage primary fibroblasts with R133L or L140R LMNA mutations, shelterin protein components were already reduced while cells still retained telomere lengths comparable to those of controls. There was a significant inverse correlation between the degree of abnormal nuclear morphology and the level of TRF2, a shelterin subunit, suggesting a potential causal relationship. Stabilization of the telomeres via the introduction of the catalytic subunit of human telomerase, hTERT (human telomerase reverse transcriptase), did not prevent degradation of shelterin components, indicating that reduced TRF2 in LMNA mutants is not mediated by short telomeres. Interestingly, γ-H2AX foci (reflecting double strand DNA damage) in early passage LMNA mutant primary fibroblasts and LMNA mutant hTERT fibroblasts were markedly increased in non-telomeric regions of DNA. Our results raise the possibility that mutant lamin A/C causes global genomic instability with accumulation of non-telomeric DNA damage as an early event, followed by TRF2 degradation and telomere shortening.

  12. Swimming and Persons with Mild Persistant Asthma

    Directory of Open Access Journals (Sweden)

    Mirjana Arandelovic

    2007-01-01

    Full Text Available The aim of our study was to analyze the effect of recreational swimming on lung function and bronchial hyperresponsiveness (BHR in patients with mild persistent asthma. This study included 65 patients with mild persistent asthma, who were divided into two groups: experimental group A (n = 45 and control group B (n = 20. Patients from both groups were treated with low doses of inhaled corticosteroids (ICS and short-acting β2 agonists salbutamol as needed. Our program for patients in group A was combined asthma education with swimming (twice a week on a 1-h basis for the following 6 months. At the end of the study, in Group A, we found a statistically significant increase of lung function parameters FEV1 (forced expiratory volume in 1 sec (3.55 vs. 3.65 (p < 0.01, FVC (forced vital capacity (4.27 vs. 4.37 (p < 0.05, PEF (peak expiratory flow (7.08 vs. 7.46 (p < 0.01, and statistically significant decrease of BHR (PD20 0.58 vs. 2.01 (p < 0.001. In Group B, there was a statistically significant improvement of FEV1 3.29 vs. 3.33 (p < 0.05 and although FVC, FEV1/FVC, and PEF were improved, it was not significant. When Groups A and B were compared at the end of the study, there was a statistically significant difference of FVC (4.01 vs. 4.37, FEV1 (3.33 vs. 3.55, PEF (6.79 vs.7.46, and variability (p <0.001, and statistically significantly decreased BHR in Group A (2.01 vs. 1.75 (p < 0.001. Engagement of patients with mild persistent asthma in recreational swimming in nonchlorinated pools, combined with regular medical treatment and education, leads to better improvement of their parameters of lung function and also to more significant decrease of their airway hyperresponsiveness compared to patients treated with traditional medicine

  13. Tau reduction diminishes spatial learning and memory deficits after mild repetitive traumatic brain injury in mice.

    Directory of Open Access Journals (Sweden)

    Jason S Cheng

    Full Text Available OBJECTIVE: Because reduction of the microtubule-associated protein Tau has beneficial effects in mouse models of Alzheimer's disease and epilepsy, we wanted to determine whether this strategy can also improve the outcome of mild traumatic brain injury (TBI. METHODS: We adapted a mild frontal impact model of TBI for wildtype C57Bl/6J mice and characterized the behavioral deficits it causes in these animals. The Barnes maze, Y maze, contextual and cued fear conditioning, elevated plus maze, open field, balance beam, and forced swim test were used to assess different behavioral functions. Magnetic resonance imaging (MRI, 7 Tesla and histological analysis of brain sections were used to look for neuropathological alterations. We also compared the functional effects of this TBI model and of controlled cortical impact in mice with two, one or no Tau alleles. RESULTS: Repeated (2-hit, but not single (1-hit, mild frontal impact impaired spatial learning and memory in wildtype mice as determined by testing of mice in the Barnes maze one month after the injury. Locomotor activity, anxiety, depression and fear related behaviors did not differ between injured and sham-injured mice. MRI imaging did not reveal focal injury or mass lesions shortly after the injury. Complete ablation or partial reduction of tau prevented deficits in spatial learning and memory after repeated mild frontal impact. Complete tau ablation also showed a trend towards protection after a single controlled cortical impact. Complete or partial reduction of tau also reduced the level of axonopathy in the corpus callosum after repeated mild frontal impact. INTERPRETATION: Tau promotes or enables the development of learning and memory deficits and of axonopathy after mild TBI, and tau reduction counteracts these adverse effects.

  14. Ultrastructural Study of an Atypical Case of Infertility

    Directory of Open Access Journals (Sweden)

    Ernesto Sánchez Sánchez

    2007-01-01

    Full Text Available An atypical case of infertility associated with severe sperm abnormalities is presented. A 29-year-old man with 4 years of primary infertility had no history of significant illness, and no hereditary pathology or male infertility existed in his family. Physical examination of the patient showed no pathological findings. The analyses of four semen samples showed: sperm count, 67-83 106/ml; 0% motility. The morphological analysis showed absence of flagellum, 14-16%; short-tail spermatozoa, 45-64%; coiled tails, 12-17%; and an abnormal proportion of spermatids and spermatocytes. Normal spermatozoa were found in 11-16%. Endocrine profile was found within the normal range. Testicular biopsy revealed impaired spermatogenesis. Scanning electron microscopy revealed sperm heads with intact nuclei and acrosomal regions. To our surprise, some of the stunted tails were uniflagellate. To our knowledge, this is a very uncommon case of sperm tail defect.

  15. Cosmic Dust in Suzhou A-Type Granite

    Institute of Scientific and Technical Information of China (English)

    王尔康; 万玉秋; 朱政; 胡中为; 林承毅; 周剑雄; 倪邦发

    1994-01-01

    A large number of microspherules have been extracted from Suzhou A-type granite bymeans of heavy placer.Both natural surfaces and part sections of 539 microspherules have been observed bySEM.457 microspherules have been determined by EDX,with some of them by EPMA,XRD and INAA.The results suggest these spherules are of ablated cosmic dust.Among them silicate glassy microspheruleshave been highly enriched in REE and other lithophile refractory trace elements,and REE abundance patternfavors a meteoritic origin as a roughly flat distribution.Ringwoodite has been first found in these glassy mi-crospherules.The composition of these iron spherules is similar to those of the ablated cosmic dust from deepsea and polar ice.Some Fe-Ni spherules and spherules composed of troilite have also been found.This isprobably the first report on various types of cosmic dust extracted from granite.

  16. Atypical face processing in children with tuberous sclerosis complex.

    Science.gov (United States)

    Jeste, Shafali Spurling; Hirsch, Suzanna; Vogel-Farley, Vanessa; Norona, Amanda; Navalta, Mary-Clare; Gregas, Matt C; Prabhu, Sanjay P; Sahin, Mustafa; Nelson, Charles A

    2013-12-01

    There is a high incidence of autism in tuberous sclerosis complex. Given the evidence of impaired face processing in autism, the authors sought to investigate electrophysiological markers of face processing in children with tuberous sclerosis complex. The authors studied 19 children with tuberous sclerosis complex under age 4, and 20 age-matched controls, using a familiar-unfamiliar faces paradigm. Of the children, 6 with tuberous sclerosis complex (32%) had autism. Children with tuberous sclerosis complex showed a longer N290 latency than controls (276 ms vs 259 ms, P = .05) and also failed to show the expected hemispheric differences in face processing. The longest N290 latency was seen in (1) children with autism and tuberous sclerosis complex and (2) children with temporal lobe tubers. This study is the first to quantify atypical face processing in children with tuberous sclerosis complex. This functional impairment may provide insight into a mechanism underlying a pathway to autism in tuberous sclerosis complex.

  17. Atypical teratoid/rhabdoid tumor: an unusual presentation

    Energy Technology Data Exchange (ETDEWEB)

    Gandhi, Chirag D. [Mount Sinai School of Medicine, Department of Neurosurgery, One Gustave L. Levy Place, Box 1136, Annenberg 8-06, New York, NY (United States); Krieger, Mark D.; McComb, J. Gordon [Children' s Hospital of Los Angeles, Division of Neurosurgery, Los Angeles, CA (United States)

    2004-10-01

    Atypical teratoid/ rhabdoid tumor (AT/RT) of the central nervous system is a rare, highly aggressive malignancy of infancy. Although it is reported infrequently in the literature, it has often been histologically confused with a primitive neuroectodermal tumor (PNET)/medulloblastoma (MB) but has a much worse prognosis. We present an infant with two AT/RT tumors, one suprasellar in location and the other within the vermis without evidence of tumor elsewhere. What makes this case unusual is that there were two separate lesions in different cranial compartments, with no evidence of subarachnoid seeding. In addition, the lesions had different magnetic resonance imaging (MRI) characteristics even though they were histologically the same. (orig.)

  18. Gaze Perception Develops Atypically in Children with Autism

    Directory of Open Access Journals (Sweden)

    Simon Webster

    2011-01-01

    Full Text Available The Mindblindness model is the main model of social cognitive development in autism. This model assumes that eye direction detection and eye contact detection develop typically in autism (Baron-Cohen, 1995. The model's assumption of maturational development implies that when these skills are abnormal, they must either be absent or developmentally delayed. In contrast, the atypical modularisation hypothesis predicts that these skills can develop deviantly—successfully but atypically—in children with autism. Two computer-based tasks were used to assess eye direction detection and eye contact detection in children with autism and in typically developing children. These skills were developmentally deviant in children with autism. The findings support a model of social cognition in autism that accounts for developmental processes.

  19. Post-Surgical Atypical FDG-PET Uptake

    Science.gov (United States)

    Dubroff, Jacob G.; Alavi, Abass; Friedberg, Joseph S.; Cengel, Keith A.

    2011-01-01

    False positive recognition is crucial for proper interpretation of FDG-PET studies. The authors present a case of a woman who underwent surgery over a month prior to PET/CT imaging which revealed significant tracer uptake within muscles and soft tissue in several sites contralateral to the location of surgery. The FDG-PET images of this case illustrate the importance of communication between physicians ordering and physicians reading FDG-PET/CT scans as well as atypical FDG-PET findings that could be interpreted as concerning but are, in fact, innocuous. This study also demonstrates the unusual glucose metabolic patterns which may arise following treatment be it surgical, chemotherapeutic or radiation. PMID:19851183

  20. Fragment Reattachment after Atypical Crown Fracture in Maxillary Central Incisor

    Directory of Open Access Journals (Sweden)

    Vanessa Torraca Peraro Vaz

    2014-01-01

    Full Text Available Background. Fracture by trauma is one of the most common types of dental injury in the permanent dentition among children and teenagers. Aim. The aim of this study was to report the treatment performed to an atypical dental trauma case in a maxillary central incisor of a young patient by means of reattachment of the tooth fragment. Case Description. A 12-year-old male patient suffered a vertical crown fracture to the maxillary right central incisor. After clinical and radiographic examinations, a conservative restorative treatment which consisted in the reattachment of the tooth fragment with flow resin was performed in order to preserve the dental element and to obtain maximum aesthetics. Conclusion. The reattachment of fractured fragment is a fast and easy technique that can be used successfully as an option to restore dental element which suffered trauma. Clinical Significance. This technique restores the aesthetics and function of the dental element with minimal discomfort to the patient.

  1. [Atypical presentations of strongyloidiasis: a report of 8 cases].

    Science.gov (United States)

    Zavala, J; Sánchez, L; Carillo, L; Cueva, A; Balbín, G; Quispe, V

    1994-01-01

    Eight clinical cases of patients with an atypical strongyloidiasis are reported. The clinical notes are reviewed, the nematode is demonstrated by serial coproparasitologic modified Baermann's method and in some cases, the parasite is found by direct test of sputum or enterotest. In all cases, the main factor has been the immunological deficiency being this nutritional, neoplasia, autoimmune disease, immunosuppression therapy, although the most frequent is the moderate to severe, nutritional failure, differing with the foreign literature. All of them had a good clinical evolution using Albendazole in high doses or Ivermectin. It is concluded that systemic strongyloidiasis has a clear physiopathological base in relation to cellular immunodeficiency and this must be carefully search in our patients, where the chronic autoinfection is a frequent clinical status, and there are immersed in some type of immunodeficiency, in our environment this is usually nutritional.

  2. ACKR2: An Atypical Chemokine Receptor Regulating Lymphatic Biology

    Science.gov (United States)

    Bonavita, Ornella; Mollica Poeta, Valeria; Setten, Elisa; Massara, Matteo; Bonecchi, Raffaella

    2017-01-01

    The lymphatic system plays an important role in the induction of the immune response by transporting antigens, inflammatory mediators, and leukocytes from peripheral tissues to draining lymph nodes. It is emerging that lymphatic endothelial cells (LECs) are playing an active role in this context via the expression of chemokines, inflammatory mediators promoting cell migration, and chemokine receptors. Particularly, LECs express atypical chemokine receptors (ACKRs), which are unable to promote conventional signaling and cell migration while they are involved in the regulation of chemokine availability. Here, we provide a summary of the data on the role of ACKR2 expressed by lymphatics, indicating an essential role for this ACKRs in the regulation of the inflammation and the immune response in different pathological conditions, including infection, allergy, and cancer. PMID:28123388

  3. Atypical diabetes in children: ketosis-prone type 2 diabetes.

    Science.gov (United States)

    Vaibhav, Atul; Mathai, Mathew; Gorman, Shaun

    2013-01-08

    Ketosis-prone type 2 diabetes mellitus also known as atypical or flatbush diabetes is being increasingly recognised worldwide. These patients are typically obese, middle-aged men with a strong family history of type 2 diabetes. The aetiology and pathophysiological mechanism is still unclear but some initial research suggests that patients with ketosis-prone type 2 diabetes have a unique predisposition to glucose desensitisation. These patients have negative autoantibodies typically associated with type 1 diabetes but have shown to have human leucocyte antigen (HLA) positivity. At initial presentation, there is an impairment of both insulin secretion and action. β Cell function and insulin sensitivity can be markedly improved by initiating aggressive diabetes management to allow for discontinuation of insulin therapy within a few months of treatment. These patients can be maintained on oral hypoglycaemic agents and insulin therapy can be safely discontinued after few months depending on their β cell function.

  4. An atypical presentation of cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Joshi Deepak

    2008-06-01

    Full Text Available Abstract Introduction The presentation of cystic fibrosis is dependant upon which organs are affected. Common presentations include chronic respiratory infections and malabsorption. Patients with atypical disease tend to present late in childhood or as adults. Eye manifestations of cystic fibrosis are less well known. Case presentation A 14-year-old Caucasian boy presented with tiredness and difficulty seeing at night, over a period of 6 months. Good vision was only described in bright conditions. There was no history of jaundice, steatorrhea or diarrhoea. Conclusion This is the first reported case of newly diagnosed cystic fibrosis-related liver disease in a teenage boy, whose presenting symptom was night blindness secondary to vitamin A deficiency.

  5. Atypical measles syndrome: unusual hepatic, pulmonary, and immunologic aspects.

    Science.gov (United States)

    Frey, H M; Krugman, S

    1981-01-01

    The atypical measles syndrome is a relatively new disease that was first recognized 15 years ago. Initially, it occurred in children who were exposed to wild measles virus several years after they were immunized with killed measles vaccine. It was characterized by a two- to three-day prodrome of high fever, cough, headache, and myalgia followed by a rash that resembled Rocky Mountain spotted fever, scarlet fever, or varicella and associated with roentgenographic evidence of pneumonia with or without pleural effusion. This report highlights three unusual manifestations of this syndrome: 1) transient hepatitis, 2) persistence of pulmonary lesions for several years, and 3) occurrence of excessively high measles hemagglutination-inhibition antibody titers. Today, this syndrome occurs predominantly in adolescents and young adults.

  6. Angiolymphoid hyperplasia with eosinophilia: Atypical appeareance in an older patient

    Directory of Open Access Journals (Sweden)

    Karabudak Ozlem

    2008-01-01

    Full Text Available We describe a 76-year-old man presenting with a chronic, non-healing ulcer of six-year duration on his left zygomatic area. The skin biopsy specimen taken from the lesion, showed increased vascular proliferation, edematous endothelial cells in the dermal blood vessels and perivascular eosinophilic/lymphocytic infiltration. The routine and specific blood tests were unremarkable. On the basis of these features, the patient was diagnosed as having angiolymphoid hyperplasia with eosinophilia (ALHE. We present the case because of its rarity in older people, atypical clinical appearance; and stress the consideration of ALHE in the differential diagnosis of chronic non-healing superficial ulcers confined to face and neck.

  7. Atypical post-finasteride syndrome: A pharmacological riddle

    Directory of Open Access Journals (Sweden)

    Anita K Gupta

    2016-01-01

    Full Text Available Finasteride and dutasteride are commonly used 5-alpha reductase inhibitors. While finasteride is a selective inhibitor of 5-alpha reductase Type II, dutasteride inhibits 5- alpha reductase Type I and II. The United States Food and Drug Administration approved the use of finasteride for benign prostatic hypertrophy (BPH as well as androgenic alopecia (AGA while dutasteride is approved only for BPH. Off-label use of dutasteride is not uncommon in AGA as well. Although the postfinasteride syndrome (PFS is a well-established entity, its symptomatology is quite variable. Here, we describe a case of an atypical PFS in a patient treated with dutasteride and finasteride for AGA. The multisystem involvement and irreversible nature of this case warrant its reporting.

  8. Atypical teratoid/rhabdoid tumors: challenges and search for solutions.

    Science.gov (United States)

    Biswas, Ahitagni; Kashyap, Lakhan; Kakkar, Aanchal; Sarkar, Chitra; Julka, Pramod Kumar

    2016-01-01

    Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal central nervous system tumor commonly affecting children nervous system tumors. Recent data show that it is the most common malignant central nervous system tumor in children boost to tumor bed is considered standard in children older than 3 years. However, in younger children, craniospinal irradiation may lead to long-term neurocognitive and neuroendocrine sequel, and hence focal radiation therapy may be a pragmatic approach. In this age group, high-dose chemotherapy with autologous stem cell rescue may also be considered to defer radiation therapy, but this approach is also associated with significant treatment-related morbidity and mortality. Novel small molecule inhibitors hold promise in preclinical studies and should be considered in patients with relapsed or refractory tumor.

  9. [Haematological adverse effects caused by psychiatric drugs].

    Science.gov (United States)

    Mazaira, Silvina

    2008-01-01

    Almost all clases of psychiatric drugs (typical and atypical antipsychotics, antidepressants, mood stabilizers, benzodiazepines) have been reported as possible causes of haematological toxicity. This is a review of the literature in which different clinical situations involving red blood cells, white blood cells, platelets and impaired coagulation are detailed and the drugs more frequently involved are listed. The haematological adverse reactions detailed here include: aplastic anemia, haemolitic anemia, leukopenia, agranulocytosis, leukocytosis, eosinophilia, thrombocytosis, thrombocytopenia, disordered platelet function and impaired coagulation. The haematologic toxicity profile of the drugs more frequently involved: lithium, clozapine, carbamazepine, valproic acid and SSRI antidepressants is mentioned.

  10. Figurative language processing in atypical populations: The ASD perspective

    Directory of Open Access Journals (Sweden)

    Mila eVulchanova

    2015-02-01

    Full Text Available This paper is intended to provide a critical overview of experimental and clinical research documenting problems in figurative language processing in atypical populations with a focus on the Autistic Spectrum. Research in the comprehension and processing of figurative language in autism invariably documents problems in this area. The greater paradox is that even at the higher end of the spectrum or in the cases of linguistically talented individuals with Asperger syndrome, where structural language competence is intact, problems with extended language persist. If we assume that figurative and extended uses of language essentially depend on the perception and processing of more concrete core concepts and phenomena, the commonly observed failure in atypical populations to understand figurative language remains a puzzle.Various accounts have been offered to explain this issue, ranging from linking potential failure directly to overall structural language competence (Brock et al., 2008; Norbury, 2005 to right-hemispheric involvement (Gold and Faust, 2010. We argue that the dissociation between structural language and figurative language competence in autism should be sought in more general cognitive mechanisms and traits in the autistic phenotype (e.g., in terms of weak central coherence, Vulchanova et al., 2012b, as well as failure at on-line semantic integration with increased complexity and diversity of the stimuli (Coulson and van Petten, 2002. This perspective is even more compelling in light of similar problems in a number of conditions, including both acquired (e.g., Aphasia and developmental disorders (Williams Syndrome. This dissociation argues against a simple continuity view of language interpretation.

  11. Magnetic Properties of Hydrothermalized A-type Red Granites

    Science.gov (United States)

    Trindade, R. I. F.; Nédélec, A.; Peschler, A.; Archanjo, C. J.; Poitrasson, F.; Bouchez, J. L.

    Hydrothermalized A-type granites are commonly identified by their pink to red-brick colour attributed to tiny flakes of hematite in the alkali feldspars. These inclusions can be of interest in magnetic studies, but their timing and process of formation are still unclear. Formation of chlorite after biotite is the commonest effect of hydrother- malization and may occur quite early after crystallization due to late-magmatic or externally-derived fluids. The reddish colour appears at a later stage. Five cases of A-type granites were investigated for their magnetic mineralogy and properties. The selected cases range from nearly unmodified granites (Panafrican stratoid granites of Madagascar) to strongly hydrothermalized ones (Meruoca, Brazil; Tana, Corsica); in- termediate cases are : Mount Scott (Oklahoma), Bushveld (granitic core kindly pro- vided by R.G. Cawthorn) and. Hydrothermal alteration is often associated to a de- crease of the magnetic susceptibility magnitude (K) and of the anisotropy degree (P). It also strongly affects the rockt's bulk coercivity parameters, since alteration changes the relative amounts of coarse-grained primary magnetite, fine-grained PSD to SD sec- ondary magnetite, and hematite. Correspondingly, most samples plot away from the magnetite trend in the Dayt's diagram, but the different groups identified after coer- civity parameters do not directly correlate with whole-rock colour. In addition, IRM- acquisition curves and thermal demagnetization of tri-axial IRM show that hematite occurs in almost all analysed samples despite their colour. Various hematite coercivity ranges are also evidenced. In fact, hematite can be formed either in feldspar crys- tals or after magnetite. Tiny hematite within feldspars can appear either by exsolu- tion process or, more likely, by precipitation from a fluid phase. For these reasons, hematite inclusions may carry a remanence acquired shortly after granite crystalliza- tion or, conversely, a recent

  12. Reversible acute methotrexate leukoencephalopathy: atypical brain MR imaging features

    Energy Technology Data Exchange (ETDEWEB)

    Ziereisen, France; Damry, Nash; Christophe, Catherine [Queen Fabiola Children' s University Hospital, Department of Radiology, Brussels (Belgium); Dan, Bernard [Queen Fabiola Children' s University Hospital, Department of Neurology, Brussels (Belgium); Azzi, Nadira; Ferster, Alina [Queen Fabiola Children' s University Hospital, Department of Paediatrics, Brussels (Belgium)

    2006-03-15

    Unusual acute symptomatic and reversible early-delayed leukoencephalopathy has been reported to be induced by methotrexate (MTX). We aimed to identify the occurrence of such atypical MTX neurotoxicity in children and document its MR presentation. We retrospectively reviewed the clinical findings and brain MRI obtained in 90 children treated with MTX for acute lymphoblastic leukaemia or non-B malignant non-Hodgkin lymphoma. All 90 patients had normal brain imaging before treatment. In these patients, brain imaging was performed after treatment completion and/or relapse and/or occurrence of neurological symptoms. Of the 90 patients, 15 (16.7%) showed signs of MTX neurotoxicity on brain MRI, 9 (10%) were asymptomatic, and 6 (6.7%) showed signs of acute leukoencephalopathy. On the routine brain MRI performed at the end of treatment, all asymptomatic patients had classical MR findings of reversible MTX neurotoxicity, such as abnormal high-intensity areas localized in the deep periventricular white matter on T2-weighted images. In contrast, the six symptomatic patients had atypical brain MRI characterized by T2 high-intensity areas in the supratentorial cortex and subcortical white matter (n=6), cerebellar cortex and white matter (n=4), deep periventricular white matter (n=2) and thalamus (n=1). MR normalization occurred later than clinical recovery in these six patients. In addition to mostly asymptomatic classical MTX neurotoxicity, MTX may induce severe but reversible unusual leukoencephalopathy. It is important to recognize this clinicoradiological presentation in the differential diagnosis of acute neurological deterioration in children treated with MTX. (orig.)

  13. An Atypical Cutaneous Reaction to Rivastigmine Transdermal Patch

    Directory of Open Access Journals (Sweden)

    T. Grieco

    2011-01-01

    Full Text Available Rivastigmine is a cholinesterase inhibitor which improves cognitive function and is currently being used in patients with mild to moderate Parkinson's and Alzheimer's dementia. This drug can be given orally or topically, as transdermal patch. The latter form is currently used for most excellent compliance and few side effects. The most common cutaneous side effects are irritative dermatitis. We report the second case of active sensitization by the rivastigmine-patch in a patient suffering from Alzheimer's dementia.

  14. Mild cognitive impairment in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Shu-hua LI

    2016-06-01

    Full Text Available Cognitive dysfunction is common non-motor symptom (NMS in Parkinson's disease (PD, which affects the patients' quality of life and increases the burden of caregivers. Cognitive dysfunction in PD can be mild cognitive impairment (MCI or dementia. MCI presents in the early stage of PD and the incidence rate is increasing with the disease progression. In some cases it can advance to dementia. The diagnosis of MCI in PD includes inclusion criteria, exclusion criteria and damage level evaluation. Non-pharmacological therapy, such as exercise and cognitive behavior therapy (CBT can improve the symptoms of MCI in PD, while the pharmacological treatment remains to be further studied. DOI: 10.3969/j.issn.1672-6731.2016.06.002

  15. Mild desalination of various raw water streams.

    Science.gov (United States)

    Groot, C K; van den Broek, W B P; Loewenberg, J; Koeman-Stein, N; Heidekamp, M; de Schepper, W

    2015-01-01

    For chemical industries, fresh water availability is a pre-requisite for sustainable operation. However, in many delta areas around the world, fresh water is scarce. Therefore, the E4 Water project (www.e4water.eu) comprises a case study at the Dow site in Terneuzen, The Netherlands, which is designed to develop commercial applications for mild desalination of brackish raw water streams from various origins to enable reuse in industry or agriculture. This study describes an effective two-stage work process, which was used to narrow down a broad spectrum of desalination technologies to a selection of the most promising techniques for a demonstration pilot at 2-4 m³/hour. Through literature study, laboratory experiments and multi-criteria analysis, nanofiltration and electrodialysis reversal were selected, both having the potential to attain the objectives of E4Water at full scale.

  16. Delayed epidural hematoma after mild head injury

    Directory of Open Access Journals (Sweden)

    Radulović Danilo

    2005-01-01

    Full Text Available Background. Traumatic delayed epidural hematoma (DEH can be defined as insignificant or not seen on the initial CT scan performed after a trauma but seen on the subsequent CT scan as a “massive” epidural bleeding. Case report. We presented two cases of traumatic DEH after mild head injury. Both patients were conscious and without neurological deficit on the admission. Initial CT scan did not reveal intracranial hematoma. Repeated CT scan, that was performed after neurological deterioration, revealed epidural hematoma in both cases. The patients were operated with a favorable surgical outcome. Conclusion. Traumatic DEH could occur in the patients with head injuries who were conscious on the admission with a normal initial CT scan finding. Early detection of DEH and an urgent surgical evacuation were essential for a good outcome.

  17. Mild Cognitive Impairment Status and Mobility Performance

    DEFF Research Database (Denmark)

    Pedersen, Mette; Holt, Nicole E; Grande, Laura

    2014-01-01

    BACKGROUND: The prevalence of mild cognitive impairment (MCI) and mobility limitations is high among older adults. The aim of this study was to investigate the association between MCI status and both performance-based and self-report measures of mobility in community-dwelling older adults. METHODS......MCI), nonmemory domains (naMCI), and multiple domains (mdMCI). Linear regression models were used to assess the association between MCI status and mobility performance in the Habitual Gait Speed, Figure of 8 Walk, Short Physical Performance Battery, and self-reported Late Life Function and Disability Instrument......). All MCI subtypes performed significantly worse than No-MCI on all mobility measures (p Figure of 8 Walk (p = .054) and Basic Lower Extremity (p = .11). Moreover, compared with aMCI, mdMCI manifested worse performance on the Figure of 8 Walk and Short...

  18. An atypical Toxoplasma gondii genotype in a rural Brazilian dog co-infected with Leishmania (Viannia braziliensis

    Directory of Open Access Journals (Sweden)

    Rodrigo Costa da Silva

    2015-04-01

    Full Text Available Toxoplasmosis and leishmaniasis are two worldwide zoonoses caused by the protozoan parasites Toxoplasma gondii and Leishmania spp., respectively. This report describes the clinical and laboratorial findings of a co-infection with both parasites in a 4-year-old female dog suspected of ehrlichiosis that presented anemia, thrombocytopenia, hypoalbuminemia, hyperglobulinemia, tachyzoite-like structures to the lung imprints, and polymerase chain reaction (PCR results positive for T. gondii (kidney, lung, and liver and Leishmania spp. Co-infection with Toxoplasma gondii and Leishmania braziliensis was confirmed by sequencing; restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR confirmed an atypical T. gondii genotype circulating in dogs that has been reported to cause human congenital toxoplasmosis.

  19. Predictors of atypical femoral fractures during long term bisphosphonate therapy: A case series & review of literature

    Directory of Open Access Journals (Sweden)

    Sanjay Kumar Bhadada

    2014-01-01

    Full Text Available Background & objectives: Bisphosphonates (BPs are the most widely prescribed medicines for the treatment of osteoporosis because of their efficacy and favourable safety profile. There have been, several reports on an increased incidence of atypical femoral fractures after long term treatment with BPs. The objective of this study was to evaluate the clinical presentation including prodromal symptoms, skeletal radiograph findings, type and duration of BPs received and treatment outcome of patients who developed atypical femoral fractures during bisphosphonate therapy. Methods: In this retrospective study, eight patients with atypical femoral fractures were analysed based on clinical features, biochemical and radiological investigations. Results: Of the eight patients, who sustained atypical femoral fractures, six were on alendronate and two were on zoledronate therapy before the fractures. In addition to BPs, two patients were on long term corticosteroid therapy for rheumatoid arthritis and Addison′s disease. Three patients had bilateral atypical femoral fractures. Except one, all of them had prodromal symptoms prior to fracture. Skeletal radiograph showed cortical thickening, pointed (beaking of cortical margin and transverse fracture in meta-diaphyseal location. Serum calcium, phosphate, alkaline phosphatase (ALP and intact parathyroid hormone (iPTH concentrations were within the reference range in all patients. Interpretation & conclusions: Long term bisphosphonate therapy may increase the risk of atypical femoral fractures. Presence of prodromal pain, thickened cortex with cortical beaking may be an early clue for predicting the atypical fractures. High risk patients need periodical skeletal survey and a close follow up for early detection of cases.

  20. Gain of chromosome arm 1q in atypical meningioma correlates with shorter progression-free survival

    Science.gov (United States)

    Jansen, M.; Mohapatra, G.; Betensky, R.A.; Keohane, C.; Louis, D.N.

    2013-01-01

    Aims Atypical (WHO grade II) meningiomas have moderately high recurrence rates; even for completely resected tumours, approximately one-third will recur. Postoperative radiotherapy (RT) may aid local control and improve survival, but carries the risk of side effects. More accurate prediction of recurrence risk is therefore needed for patients with atypical meningioma. Previously, we used high-resolution array CGH to identify genetic variations in 47 primary atypical meningiomas and found that approximately 60% of tumors show gain of 1q at 1q25.1 and 1q25.3 to 1q32.1 and that 1q gain appeared to correlate with shorter progression-free survival. This study aimed to validate and extend these findings in an independent sample. Methods 86 completely resected atypical meningiomas (with 25 recurrences) from two neurosurgical centres in Ireland were identified and clinical follow up was obtained. Utilizing a dual-colour interphase FISH assay, 1q gain was assessed using BAC probes directed against 1q25.1 and 1q32.1. Results The results confirm the high prevalence of 1q gain at these loci in atypical meningiomas. We further show that gain at 1q32.1 and age each correlate with progression-free survival in patients who have undergone complete surgical resection of atypical meningiomas. Conclusions These independent findings suggest that assessment of 1q copy number status can add clinically useful information for the management of patients with atypical meningiomas. PMID:21988727

  1. Gain of chromosome arm 1q in atypical meningioma correlates with shorter progression-free survival.

    LENUS (Irish Health Repository)

    2012-02-01

    Aims: Atypical (WHO grade II) meningiomas have moderately high recurrence rates; even for completely resected tumours, approximately one-third will recur. Post-operative radiotherapy (RT) may aid local control and improve survival, but carries the risk of side effects. More accurate prediction of recurrence risk is therefore needed for patients with atypical meningioma. Previously, we used high-resolution array CGH to identify genetic variations in 47 primary atypical meningiomas and found that approximately 60% of tumors show gain of 1q at 1q25.1 and 1q25.3 to 1q32.1 and that 1q gain appeared to correlate with shorter progression-free survival. This study aimed to validate and extend these findings in an independent sample. Methods: 86 completely resected atypical meningiomas (with 25 recurrences) from two neurosurgical centres in Ireland were identified and clinical follow up was obtained. Utilizing a dual-colour interphase FISH assay, 1q gain was assessed using BAC probes directed against 1q25.1 and 1q32.1. Results: The results confirm the high prevalence of 1q gain at these loci in atypical meningiomas. We further show that gain at 1q32.1 and age each correlate with progression-free survival in patients who have undergone complete surgical resection of atypical meningiomas. Conclusions: These independent findings suggest that assessment of 1q copy number status can add clinically useful information for the management of patients with atypical meningiomas.

  2. Comparing Cognitive Profiles of Licensed Drivers with Mild Alzheimer’s Disease and Mild Dementia with Lewy Bodies

    Directory of Open Access Journals (Sweden)

    Stephanie Yamin

    2016-01-01

    Full Text Available Purpose. Alzheimer’s disease (AD and dementia with Lewy Bodies (DLB constitute two of the most common forms of dementia in North America. Driving is a primary means of mobility among older adults and the risk of dementia increases with advanced age. The purpose of this paper is to describe the cognitive profile of licensed drivers with mild AD and mild DLB. Method. Licensed drivers with mild AD, mild DLB, and healthy controls completed neuropsychological tests measuring general cognition, attention, visuospatial/perception, language, and cognitive fluctuations. Results. The results showed differences between healthy controls and demented participants on almost all neuropsychological measures. Participants with early DLB were found to perform significantly worse on some measures of attention and visuospatial functioning in comparison with early AD. Discussion. Future research should examine the relationship between neuropsychological measures and driving outcomes among individuals with mild AD and mild DLB.

  3. Hospitalization and cost after switching from atypical to typical antipsychotics in schizophrenia patients in Thailand

    Science.gov (United States)

    Boonlue, Tuanthon; Subongkot, Suphat; Dilokthornsakul, Piyameth; Kongsakon, Ronnachai; Pattanaprateep, Oraluck; Suanchang, Orabhorn; Chaiyakunapruk, Nathorn

    2016-01-01

    Background Several clinical practice guidelines suggest using atypical over typical antipsychotics in patients diagnosed with schizophrenia. Nevertheless, cost-containment policy urged restricting usage of atypical antipsychotics and switching from atypical to typical antipsychotics. Objective This study aimed to evaluate clinical and economic impacts of switching from atypical to typical antipsychotics in schizophrenia patients in Thailand. Methods From October 2010 through September 2013, a retrospective cohort study was performed utilizing electronic database of two tertiary hospitals. Schizophrenia patients aged 18 years or older and being treated with atypical antipsychotics were included. Patients were classified as atypical antipsychotic switching group if they switched to typical antipsychotics after 180 days of continual atypical antipsychotics therapy. Outcomes were schizophrenia-related hospitalization and total health care cost. Logistic and Poisson regression were used to evaluate the risk of hospitalization, and generalized linear model with gamma distribution was used to determine the health care cost. All analyses were adjusted by employing propensity score and multivariable analyses. All cost estimates were adjusted according to 2013 consumer price index and converted to US$ at an exchange rate of 32.85 Thai bahts/US$. Results A total of 2,354 patients were included. Of them, 166 (7.1%) patients switched to typical antipsychotics. The adjusted odds ratio for schizophrenia-related hospitalization in atypical antipsychotic switching group was 1.87 (95% confidence interval [CI] 1.23–2.83). The adjusted incidence rate ratio was 2.44 (95% CI 1.57–3.79) for schizophrenia-related hospitalizations. The average total health care cost was lower in patients with antipsychotic switching (−$64; 95% CI −$459 to $332). Conclusion Switching from atypical to typical antipsychotics is associated with an increased risk of schizophrenia-related hospitalization

  4. Genomic and Phenotypic Analyses Reveal the Emergence of an Atypical Salmonella enterica Serovar Senftenberg Variant in China

    KAUST Repository

    Abd El Ghany, Moataz

    2016-05-25

    Human infections with Salmonella enterica subspecies enterica serovar Senftenberg are often associated with exposure to poultry flocks, farm environments, or contaminated food. The recent emergence of multidrug-resistant isolates has raised public health concerns. In this study, comparative genomics and phenotypic analysis were used to characterize 14 Salmonella Senftenberg clinical isolates recovered from multiple outbreaks in Shenzhen and Shanghai, China, between 2002 and 2011. Single-nucleotide polymorphism analyses identified two phylogenetically distinct clades of S. Senftenberg, designated SC1 and SC2, harboring variations in Salmonella pathogenicity island 1 (SPI-1) and SPI-2 and exhibiting distinct biochemical and phenotypic signatures. Although the two variants shared the same serotype, the SC2 isolates of sequence type 14 (ST14) harbored intact SPI-1 and -2 and hence were characterized by possessing efficient invasion capabilities. In contrast, the SC1 isolates had structural deletion patterns in both SPI-1 and -2 that correlated with an impaired capacity to invade cultured human cells and also the year of their isolation. These atypical SC1 isolates also lacked the capacity to produce hydrogen sulfide. These findings highlight the emergence of atypical Salmonella Senftenberg variants in China and provide genetic validation that variants lacking SPI-1 and regions of SPI-2, which leads to impaired invasion capacity, can still cause clinical disease. These data have identified an emerging public health concern and highlight the need to strengthen surveillance to detect the prevalence and transmission of nontyphoidal Salmonella species.

  5. Presence of subclinical infection in gene-targeted human prion protein transgenic mice exposed to atypical bovine spongiform encephalopathy.

    Science.gov (United States)

    Wilson, Rona; Dobie, Karen; Hunter, Nora; Casalone, Cristina; Baron, Thierry; Barron, Rona M

    2013-12-01

    The transmission of bovine spongiform encephalopathy (BSE) to humans, leading to variant Creutzfeldt-Jakob disease has demonstrated that cattle transmissible spongiform encephalopathies (TSEs) can pose a risk to human health. Until recently, TSE disease in cattle was thought to be caused by a single agent strain, BSE, also known as classical BSE, or BSE-C. However, due to the initiation of a large-scale surveillance programme throughout Europe, two atypical BSE strains, bovine amyloidotic spongiform encephalopathy (BASE, also named BSE-L) and BSE-H have since been discovered. To model the risk to human health, we previously inoculated these two forms of atypical BSE (BASE and BSE-H) into gene-targeted transgenic (Tg) mice expressing the human prion protein (PrP) (HuTg) but were unable to detect any signs of TSE pathology in these mice. However, despite the absence of TSE pathology, upon subpassage of some BASE-challenged HuTg mice, a TSE was observed in recipient gene-targeted bovine PrP Tg (Bov6) mice but not in HuTg mice. Disease transmission from apparently healthy individuals indicates the presence of subclinical BASE infection in mice expressing human PrP that cannot be identified by current diagnostic methods. However, due to the lack of transmission to HuTg mice on subpassage, the efficiency of mouse-to-mouse transmission of BASE appears to be low when mice express human rather than bovine PrP.

  6. Memory complaints in subjective cognitive impairment, amnestic mild cognitive impairment and mild Alzheimer's disease.

    Science.gov (United States)

    Ryu, Seon Young; Lee, Sang Bong; Kim, Tae Woo; Lee, Taek Jun

    2016-12-01

    Memory complaints are a frequent phenomenon in elderly individuals and can lead to opportunistic help-seeking behavior. The aim of this study was to compare different aspects of memory complaints (i.e., prospective versus retrospective complaints) in individuals with subjective cognitive impairment (SCI), amnestic mild cognitive impairment (aMCI), and mild Alzheimer's disease (AD). The study included a total of 115 participants (mean age: 68.82 ± 8.83 years) with SCI (n = 34), aMCI (n = 46), and mild AD (n = 35). Memory complaints were assessed using the Prospective and Retrospective Memory Questionnaire (PRMQ), which consists of 16 items that describe everyday memory failure of both prospective memory (PM) and retrospective memory (RM). For aMCI and AD subjects, informants also completed an informant-rating of the PRMQ. All participants completed detailed neuropsychological tests. Results show that PM complaints were equivalent among the three groups. However, RM complaints differed. Specifically, RM complaints in aMCI were higher than SCI, but similar to AD. Informant-reported memory complaints were higher for AD than aMCI. Our study suggests that RM complaints of memory complaints may be helpful in discriminating between SCI and aMCI, but both PM and RM complaints are of limited value in differentiating aMCI from AD.

  7. Various MRS application tools for Alzheimer disease and mild cognitive impairment.

    Science.gov (United States)

    Gao, F; Barker, P B

    2014-06-01

    MR spectroscopy is a noninvasive technique that allows the detection of several naturally occurring compounds (metabolites) from well-defined regions of interest within the human brain. Alzheimer disease, a progressive neurodegenerative disorder, is the most common cause of dementia in the elderly. During the past 20 years, multiple studies have been performed on MR spectroscopy in patients with both mild cognitive impairment and Alzheimer disease. Generally, MR spectroscopy studies have found decreased N-acetylaspartate and increased myo-inositol in both patients with mild cognitive impairment and Alzheimer disease, with greater changes in Alzheimer disease than in mild cognitive impairment. This review summarizes the information content of proton brain MR spectroscopy and its related technical aspects, as well as applications of MR spectroscopy to mild cognitive impairment and Alzheimer disease. While MR spectroscopy may have some value in the differential diagnosis of dementias and assessing prognosis, more likely its role in the near future will be predominantly as a tool for monitoring disease response or progression in treatment trials. More work is needed to evaluate the role of MR spectroscopy as a biomarker in Alzheimer disease and its relationship to other imaging modalities.

  8. Atypical antipsychotic drugs and tardive dyskinesia: relevance of D2 receptor affinity.

    Science.gov (United States)

    Bressan, Rodrigo A; Jones, Hugh M; Pilowsky, Lyn S

    2004-03-01

    Evidence suggests atypical antipsychotic treatment is associated with a lower incidence of tardive dyskinesia (TD) than typical antipsychotic drugs, and is a potential antidyskinetic treatment. We present the case of a middle-aged woman never previously exposed to antipsychotic treatment who developed TD after 6 months of olanzapine monotherapy. Substitution of quetiapine for olanzapine alleviated her TD symptoms. The case demonstrates that atypical antipsychotic drugs have different effects in relation to TD. Potential psychopharmacological mechanisms explaining these differences are discussed, highlighting the importance of D2 receptor occupancy by atypical antipsychotic drugs for TD.

  9. [Diagnostic and therapeutic problems of an atypical cyst of the kidney].

    Science.gov (United States)

    Rabii, R; Rais, H; Joual, A; Moussaoui, A E; el Mrini, M; Benjelloun, S

    1999-01-01

    Atypical renal cyst raises diagnostic and therapeutic problems. The authors report a case of atypical renal cyst which raised numerous diagnostic and therapeutic problems. The authors discuss theses problems in the light of this case. A farmer consulted for right lumbar pain without hematuria and hydaturia. Hydatic serology was negative. Ultrasonography and CT scan showed atypical cyst in favour of hydatic cyst. Surgical investigations showed a necrotico-hemorragic cyst, and cystectomy was performed. Histological examination revealed a chronic inflammatory process without malignancy. One year after the operation, clinical and radiological examination were normal.

  10. Genetic Characterization of Atypical Mansonella (Mansonella) ozzardi Microfilariae in Human Blood Samples from Northeastern Peru

    Science.gov (United States)

    Marcos, Luis A.; Arrospide, Nancy; Recuenco, Sergio; Cabezas, Cesar; Weil, Gary J.; Fischer, Peter U.

    2012-01-01

    DNA sequence comparisons are useful for characterizing proposed new parasite species or strains. Microfilariae with an atypical arrangement of nuclei behind the cephalic space have been recently described in human blood samples from the Amazon region of Peru. Three blood specimens containing atypical microfilariae were genetically characterized using three DNA markers (5S ribosomal DNA, 12S ribosomal DNA, and cytochrome oxidase I). All atypical microfilariae were clustered into the Mansonella group and indistinguishable from M. ozzardi based on these DNA markers. PMID:22826497

  11. Atypical facial scarring after isotretinoin therapy in a patient with previous dermabrasion.

    Science.gov (United States)

    Katz, B E; Mac Farlane, D F

    1994-05-01

    The increased use of isotretinoin therapy for severe cystic acne has posed new problems for dermatologic surgeons. There have been recent reports in the literature of unexpected "atypical" scarring after dermabrasion in patients who have previously taken isotretinoin. This scarring was considered atypical because it occurred outside the typical "danger zones" (e.g., mandible and malar eminences) where scarring most often occurs after dermabrasion. This is the first reported case of atypical scarring in a patient who began isotretinoin therapy 2 months after dermabrasion.

  12. Imaging of genetic and degenerative disorders primarily causing Parkinsonism.

    Science.gov (United States)

    Brooks, David J

    2016-01-01

    In this chapter the structural and functional imaging changes associated with both genetic causes of Parkinson's disease and the sporadic condition are reviewed. The role of imaging for supporting diagnosis and detecting subclinical disease is discussed and the potential use and drawbacks of using imaging biomarkers for monitoring disease progression are debated. Additionally, the use of imaging for differentiating atypical parkinsonian syndromes from Parkinson's disease is presented.

  13. Atypical presentation of a hepatic artery pseudoaneurysm: A case report and review of the literature

    Science.gov (United States)

    Luckhurst, Casey M; Perez, Chelsey; Collinsworth, Amy L; Trevino, Jose G

    2016-01-01

    Classically, hepatic artery pseudoaneurysms (HAPs) arise secondary to trauma or iatrogenic causes. With an increasing prevalence of laparoscopic procedures of the hepatobiliary system the risk of inadvertent injury to arterial vessels is increased. Pseudoaneurysm formation post injury can lead to serious consequences of rupture and subsequent hemorrhage, therefore intervention in all identified visceral pseudoaneurysms has been advocated. A variety of interventional methods have been proposed, with surgical management becoming the last step intervention when minimally invasive therapies have failed. The authors present a case of a HAP in a 56-year-old female presenting with jaundice and pruritis suggestive of a Klatskin’s tumor. This presentation of HAP in a patient without any significant past medical or surgical intervention is atypical when considering that the majority of HAP cases present secondary to iatrogenic causes or trauma. Multiple minimally invasive approaches were employed in an attempt to alleviate the symptomology which included jaundice and associated inflammatory changes. Ultimately, a right hepatic trisegmentectomy was required to adequately relieve the mass effect on biliary outflow obstruction and definitively address the HAP. The presentation of a HAP masquerading as a malignancy with jaundice and pruritis, rather than the classic symptoms of abdominal pain, anemia, and melena, is unique. This presentation is only further complicated by the absent history of either trauma or instrumentation. It is important to be aware of HAPs as a potential cause of jaundice in addition to the more commonly thought of etiologies. Furthermore, given the morbidity and mortality associated with pseudoaneurysm rupture, intervention in identifiable cases, either by minimally invasive or surgical interventions, is recommended. PMID:27366305

  14. Atypical presentation of a hepatic artery pseudoaneurysm:A case report and review of the literature

    Institute of Scientific and Technical Information of China (English)

    Casey; M; Luckhurst; Chelsey; Perez; Amy; L; Collinsworth; Jose; G; Trevino

    2016-01-01

    Classically, hepatic artery pseudoaneurysms(HAPs) arise secondary to trauma or iatrogenic causes. With an increasing prevalence of laparoscopic procedures of the hepatobiliary system the risk of inadvertent injury to arterial vessels is increased. Pseudoaneurysm formation post injury can lead to serious consequences of rupture and subsequent hemorrhage, therefore intervention in all identified visceral pseudoaneurysms has been advocated. A variety of interventional methods have been proposed, with surgical management becoming the last step intervention when minimally invasive therapies have failed. The authors present a case of a HAP in a 56-year-old female presenting with jaundice and pruritis suggestive of a Klatskin’s tumor. This presentation of HAP in a patient without any significant past medical or surgical intervention is atypical when considering that the majority of HAP cases present secondary to iatrogenic causes or trauma. Multiple minimally invasive approaches were employed in an attempt to alleviate the symptomology which included jaundice and associated inflammatory changes. Ultimately, a right hepatic trisegmentectomy was required to adequately relieve the mass effect on biliary outflow obstruction and definitively address the HAP. The presentation of a HAP masquerading as a malignancy with jaundice and pruritis, rather than the classic symptoms of abdominalpain, anemia, and melena, is unique. This presentation is only further complicated by the absent history of either trauma or instrumentation. It is important to be aware of HAPs as a potential cause of jaundice in addition to the more commonly thought of etiologies. Furthermore, given the morbidity and mortality associated with pseudoaneurysm rupture, intervention in identifiable cases, either by minimally invasive or surgical interventions, is recommended.

  15. Comprehension of atypical literary text and scholastic achievement

    Directory of Open Access Journals (Sweden)

    Božin Aurel A.

    2009-01-01

    Full Text Available With the aim of gaining insight into literary text comprehension and the linkage between that comprehension and scholastic achievement during the first years of schooling, a research was conducted on the sample of 152 third and fourth grade pupils from one urban and one rural school. After having read silently a selected atypical excerpt from one literary text, interviewed pupils filled out the questionnaire constructed for the purposes of this research starting from the 11 categories of text comprehension singled out based on the theory of comprehension and interpretation of literary text and the current curriculum. In the first part of the research we applied the Children's orientation scale by Malka Margalit, and school marks were used as a measurement of scholastic achievement. Research results point out that, among other things, inferring on the basis of what has been read poses the greatest difficulty for third and fourth graders, that is, that almost three quarters of them are not capable of determining the meaning of some representative sentences from that text. In the positive sense, it was established that almost three quarters of them perceive beautiful poetic expressions and about 80% of them can at least to a certain extent recognize character descriptions, emotional situations and moods, that is, discover significant facts. Answers to the questions regarding the majority of categories of text comprehension are significantly correlated with scholastic achievement. As expected, the highest correlations between the measures on text comprehension categories are with the marks in native (Serbian language. Partial correlations between the measures on certain categories of text comprehension and measurements of scholastic achievement (excluding the influence of feeling of coherence are not significantly different from bivariate. Based on the obtained data, authors conclude that the utilized system of categories can be a useful tool for

  16. Detection of atypical seismic events on a regional scale

    Science.gov (United States)

    Solano-Hernandez, E. A.; Hjorleifsdottir, V.; Perez-Campos, X.; Iglesias, A.

    2013-12-01

    We propose an event-detection algorithm to locate seismic events on a regional scale. Our goal is to identify non-impulsive or 'atypical' events which are not detected by regional or global networks, due to their low P-wave amplitude. Ekstrom (2006) has developed and implemented a method to detect and locate sources of long-period seismic surface waves on a global scale. Atypical events are generated by, for example, rapid glacial movements (Ekstrom, et al., 2003; Ekstrom, et al., 2006), volcanic events (Schuler and Ekstrom, 2009) and landslides (Ekstrom and Stark, 2013). Furthermore, non-impulsive earthquakes have been located on oceanic transform faults (Abercrombie and Ekstrom, 2001). The current method (Ekstrom, 2006), that is applied on the scale of the globe, routinely detects events with magnitudes around Mw 5 and larger. In this work we wish to lower the detection threshold by using shorter period records registered by regional networks. The difficulty lies in that the shorter period records are strongly influenced by the heterogeneous crust and upper mantle, which need to be accounted for in the modeling process. Our proposed method involves first computing full waveforms, Green's functions or moment tensor responses, between a grid of test locations and existing seismic stations in a 3D medium. We then effectively back propagate observed data through cross correlation with the responses, obtaining a function that localizes in time and space at the source. Our method is a variant of the timereversal method presented by, for example, McMechan (1982), Tromp et al. (2005), Larmat et al. (2006), Gajewski and Tessmer (2005) and Kim et al. (2010). To calibrate the various parameters used by the detection method, we use the aftershocks sequence of the March 20, 2012 Ometepec, Guerrero, Mexico earthquake, recorded by the SSN (Mexican National Network). The lively aftershock sequence provided us with many events of different magnitudes, all occurring approximately

  17. The genome of Chelonid herpesvirus 5 harbors atypical genes

    Science.gov (United States)

    Ackermann, Mathias; Koriabine, Maxim; Hartmann-Fritsch, Fabienne; de Jong, Pieter J.; Lewis, Teresa D.; Schetle, Nelli; Work, Thierry M.; Dagenais, Julie; Balazs, George H.; Leong, Jo-Ann C.

    2012-01-01

    The Chelonid fibropapilloma-associated herpesvirus (CFPHV; ChHV5) is believed to be the causative agent of fibropapillomatosis (FP), a neoplastic disease of marine turtles. While clinical signs and pathology of FP are well known, research on ChHV5 has been impeded because no cell culture system for its propagation exists. We have cloned a BAC containing ChHV5 in pTARBAC2.1 and determined its nucleotide sequence. Accordingly, ChHV5 has a type D genome and its predominant gene order is typical for the varicellovirus genus within thealphaherpesvirinae. However, at least four genes that are atypical for an alphaherpesvirus genome were also detected, i.e. two members of the C-type lectin-like domain superfamily (F-lec1, F-lec2), an orthologue to the mouse cytomegalovirus M04 (F-M04) and a viral sialyltransferase (F-sial). Four lines of evidence suggest that these atypical genes are truly part of the ChHV5 genome: (1) the pTARBAC insertion interrupted the UL52 ORF, leaving parts of the gene to either side of the insertion and suggesting that an intact molecule had been cloned. (2) Using FP-associated UL52 (F-UL52) as an anchor and the BAC-derived sequences as a means to generate primers, overlapping PCR was performed with tumor-derived DNA as template, which confirmed the presence of the same stretch of “atypical” DNA in independent FP cases. (3) Pyrosequencing of DNA from independent tumors did not reveal previously undetected viral sequences, suggesting that no apparent loss of viral sequence had happened due to the cloning strategy. (4) The simultaneous presence of previously known ChHV5 sequences and F-sial as well as F-M04 sequences was also confirmed in geographically distinct Australian cases of FP. Finally, transcripts of F-sial and F-M04 but not transcripts of lytic viral genes were detected in tumors from Hawaiian FP-cases. Therefore, we suggest that F-sial and F-M04 may play a role in FP pathogenesis

  18. Atypical teratoid/rhabdoid tumors: challenges and search for solutions

    Directory of Open Access Journals (Sweden)

    Biswas A

    2016-09-01

    Full Text Available Ahitagni Biswas,1 Lakhan Kashyap,1 Aanchal Kakkar,2 Chitra Sarkar,2 Pramod Kumar Julka1 1Department of Radiotherapy & Oncology, 2Department of Pathology, All India Institute of Medical Sciences, New Delhi, India Abstract: Atypical teratoid/rhabdoid tumor (AT/RT is a highly malignant embryonal central nervous system tumor commonly affecting children <3 years of age. It roughly constitutes 1%–2% of all pediatric central nervous system tumors. Recent data show that it is the most common malignant central nervous system tumor in children <6 months of age. Management of this aggressive tumor is associated with a myriad of diagnostic and therapeutic challenges. On the basis of radiology and histopathology alone, distinction of AT/RT from medulloblastoma or primitive neuroectodermal tumor is difficult, and hence this tumor has been commonly misdiagnosed as primitive neuroectodermal tumor for decades. Presence of a bulky heterogeneous solid-cystic mass with readily visible calcification and intratumor hemorrhage, occurring off-midline in children <3 years of age, should alert the radiologist toward the possibility of AT/RT. Presence of rhabdoid cells on histopathology and polyphenotypic immunopositivity for epithelial, mesenchymal, and neuroectodermal markers along with loss of expression of SMARCB1/INI1 or SMARCA4/BRG1 help in establishing a diagnosis of AT/RT. The optimal management comprises maximal safe resection followed by radiation therapy and multiagent intensive systemic chemotherapy. Gross total excision is difficult to achieve in view of the large tumor size and location and young age at presentation. Leptomeningeal spread is noted in 15%–30% of patients, and hence craniospinal irradiation followed by boost to tumor bed is considered standard in children older than 3 years. However, in younger children, craniospinal irradiation may lead to long-term neurocognitive and neuroendocrine sequel, and hence focal radiation therapy may be a

  19. Mild-split SUSY with flavor

    CERN Document Server

    Eliaz, Latif; Gudnason, Sven Bjarke; Tsuk, Eitan

    2013-01-01

    In the framework of a gauge mediated quiver-like model, the standard model flavor texture can be naturally generated. The model - like the MSSM - has furthermore a region in parameter space where the lightest Higgs mass is fed by heavy stop loops, which in turn sets the average squark mass scale near 10-20 TeV. We perform a careful flavor analysis to check whether this type of mild-split SUSY passes all flavor constraints as easily as envisioned in the original type of split SUSY. Interestingly, it turns out to be on the border of several constraints, in particular, the branching ratio of mu -> e gamma and, if order one complex phases are assumed, also epsilon_K neutron and electron EDM. Furthermore, we consider unification as well as dark matter candidates, especially the gravitino. Finally, we provide a closed-form formula for the soft masses of matter in arbitrary representations of any of the gauge groups in a generic quiver-like model with a general messenger sector.

  20. Heterogeneity in executive impairment in patients with very mild Alzheimer's

    DEFF Research Database (Denmark)

    Stokholm, J.; Gade, Anders; Vogel, A.

    2006-01-01

    The presence of executive impairment in mild Alzheimer's disease (AD) has primarily been demonstrated by means of group comparison. Whether executive dysfunction is a common feature of mild AD or only present in a subgroup of patients remains unclear. The aim of this study was to describe...