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Sample records for atypical fumarylacetoacetase deficiency

  1. A Patient With Atypical Multiple Sulfatase Deficiency.

    Science.gov (United States)

    Miskin, Chandrabhaga; Melvin, Joseph J; Legido, Agustin; Wenger, David A; Harasink, Sue Moyer; Khurana, Divya S

    2016-04-01

    Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder. We present a 4-year-old girl with clinical findings of microcephaly, spondylolisthesis and neurological regression without ichthyosis, coarse facies, and organomegaly. The child's magnetic resonance imaging demonstrated confluent white matter abnormalities involving the periventricular and deep cerebral white matter with the U-fibers relatively spared. Biochemical testing showing low arylsulfatase A levels were initially thought to be consistent with a diagnosis of metachromatic leukodystrophy. The diagnosis of multiple sulfatase deficiency was pursued when genetic testing for metachromatic leukodystrophy was negative. This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. NF- κB Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria

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    Jonathan Braue

    2014-12-01

    Full Text Available NF- κB essential modulator (NEMO is a kinase integral to the macrophage TNF-α pathway, which leads to the intracellular destruction of Mycobacteria species. Defects in the NEMO pathway lead to a spectrum of diseases, including but not limited to ectodermal dysplasia, Mendelian susceptibility to mycobacterial diseases, and incontinentia pigmenti. In addition, paucity of NEMO can lead to the inability to mount a proper immune response against opportunistic pyogenic and mycobacterial infections, leading to dissemination to various organ systems. This manuscript will discuss the numerous clinical manifestations of NEMO deficiency, the differential diagnosis for atypical mycobacterial infections in immunocompetent adults, and feature a case report of rare isolated susceptibility to disseminated atypical mycobacteria due to a mutation in the first exon of the NEMO gene.

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B-6 metabolism causing perinatal seizure disorders. The phenotypic variability, however, is broad. To assess the frequency of these deficiencies in unexplained infantile epilepsy, we screened 113 patients for mutations in both genes...... pyridoxine treatment. "Hidden" vitamin B-6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes....

  4. Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient.

    Science.gov (United States)

    Lim, Lee-Moay; Chang, Jer-Ming; Wang, I-Fang; Chang, Wei-Chiao; Hwang, Daw-Yang; Chen, Hung-Chun

    2013-09-27

    X-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton's tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature B cells, and an increased susceptibility to recurrent bacterial infections. However, the diagnosis of XLA can be a challenge in certain patients who have near-normal levels of serum immunoglobulin. Furthermore, reports on XLA with renal involvement are scant. We report an atypical XLA patient who presented with selective immunoglobulin M (IgM) immunodeficiency and nephropathy. He was diagnosed with selective IgM immunodeficiency, based on his normal serum immunoglobulin G (IgG) and immunoglobulin A (IgA) levels but undetectable serum IgM level. Intravenous immunoglobulin was initiated due to increased infections and persistent proteinuria but no improvement in proteinuria was found. A lupus-like nephritis was detected in his kidney biopsy and the proteinuria subsided after receiving a mycophenolate mofetil regimen. Although he had a history of recurrent bacterial infections since childhood, XLA was not diagnosed until B-lymphocyte surface antigen studies and a genetic analysis were conducted. We suggest that B-lymphocyte surface antigen studies and a BTK mutation analysis should be performed in familial patients with selective IgM deficiency to rule out atypical XLA.

  5. Atypical hamstrings electromyographic activity as a compensatory mechanism in anterior cruciate ligament deficiency

    NARCIS (Netherlands)

    Boerboom, AL; Hof, AL; Halbertsma, JPK; van Raaij, JJAM; Schenk, W; Diercks, RL; van Horn, [No Value; van Horn, J.R.

    Anterior cruciate ligament (ACL) deficiency may cause functional instability of the knee (noncopers), while other patients compensate and perform at the same level as before injury (copers). This pilot study investigated whether there is a compensatory electromyographic (EMG) activity of the

  6. Oral HPV infection and MHC class II deficiency (A study of two cases with atypical outcome

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    Guirat-Dhouib Naouel

    2012-04-01

    Full Text Available Abstract Background Major histocompatibility complex class II deficiency, also referred to as bare lymphocyte syndrome is a rare primary Immunodeficiency disorder characterized by a profondly deficient human leukocyte antigen class II expression and a lack of cellular and humoral immune responses to foreign antigens. Clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections. The infections begin in the first year of life and involve usually the respiratory system and the gastrointestinal tract. Severe malabsorption with failure to thrive ensues, often leading to death in early childhood. Bone marrow transplantation is the curative treatment. Case reports Here we report two cases with a late outcome MHC class II deficiency. They had a long term history of recurrent bronchopulmonary and gastrointestinal infections. Bone marrow transplantation could not be performed because no compatible donor had been identified. At the age of 12 years, they developed oral papillomatous lesions related to HPV (human papillomavirus. The diagnosis of HPV infection was done by histological examination. HPV typing performed on the tissue obtained at biopsy showed HPV type 6. The lesions were partially removed after two months of laser treatment. Conclusions Viral infections are common in patients with MHC class II and remain the main cause of death. Besides warts caused by HPV infection do not exhibit a propensity for malignant transformation; they can cause great psychosocial morbidity.

  7. Atypical Depression

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    Atypical depression Overview 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 ...

  8. Deficiencies

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    U.S. Department of Health & Human Services — A list of all deficiencies currently listed on Nursing Home Compare, including the nursing home that received the deficiency, the associated inspection date,...

  9. 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 ...

  10. Atypical Depression

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    Erhan Ertekin

    2013-09-01

    Full Text Available Atypical depression is defined as a specifier of major depressive disorder. Columbia criteria for atypical depression are commonly used to make a diagnosis. Female sex, onset at early age, chronic course, and higher rate of comorbidity (especially anxiety disorder and bipolar disorder is noteworthy in atypical depression. Although, the atypical depression seems to support the familial genetic transition, there is not any specific study supporting these data. In the treatment of atypical depression, monoamine oxidase inhibitors are reported to be more effective than tricyclic antidepressants. In recent studies, selective serotonin reuptake inhibitors have also proven to be efficient.

  11. Tramadol and another atypical opioid meperidine have exaggerated serotonin syndrome behavioural effects, but decreased analgesic effects, in genetically deficient serotonin transporter (SERT) mice.

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    Fox, Meredith A; Jensen, Catherine L; Murphy, Dennis L

    2009-09-01

    The serotonin syndrome is a potential side-effect of serotonin-enhancing drugs, including antidepressants such as selective serotonin reuptake inhibitors (SSRIs) and monoamine oxidase inhibitors (MAOIs). We recently reported a genetic mouse model for the serotonin syndrome, as serotonin transporter (SERT)-deficient mice have exaggerated serotonin syndrome behavioural responses to the MAOI tranylcypromine and the serotonin precursor 5-hydroxy-l-tryptophan (5-HTP). As numerous case reports implicate the atypical opioids tramadol and meperidine in the development of the human serotonin syndrome, we examined tramadol and meperidine as possible causative drugs in the rodent model of the serotonin syndrome in SERT wild-type (+/+), heterozygous (+/-) and knockout (-/-) mice. Comparisons were made with SERT mice treated with either vehicle or morphine, an opioid not implicated in the serotonin syndrome in humans. Here we show that tramadol and meperidine, but not morphine, induce serotonin syndrome-like behaviours in mice, and we show that this response is exaggerated in mice lacking one or two copies of SERT. The exaggerated response to tramadol in SERT-/- mice was blocked by pretreatment with the 5-HT1A antagonist WAY 100635. Further, we show that morphine-, meperidine- and tramadol-induced analgesia is markedly decreased in SERT-/- mice. These studies suggest that caution seems warranted in prescribing or not warning patients receiving SSRIs or MAOIs that dangerous side-effects may occur during concurrent use of tramadol and similar agents. These findings suggest that it is conceivable that there might be increased vulnerability in individuals with SERT polymorphisms that may reduce SERT by more than 50%, the level in SERT+/- mice.

  12. Atypical Antidepressants

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    ... which is also used to treat insomnia Vortioxetine (Trintellix) Side effects may occur with antidepressants, including atypical ... traz_imtb_ins.pdf. Accessed May 23, 2016. Trintellix (prescribing information). Deerfield, Ill.: Takeda Pharmaceuticals; 2016. http:// ...

  13. Atypical Cities

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    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…

  14. Atypical Depression

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    ... coping Other mental health disorders such as anxiety Suicide from feelings of depression Prevention There's no sure way to prevent depression. ... the association between oversleeping and overeating in atypical depression. Journal of Psychosomatic Research. 2015;78:52. Koyuncu A, et al. Relationship ...

  15. [Atypical odontalgia].

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    Türp, Jens Christoph

    2005-01-01

    In spite of its first description by the English surgeon JOHN HUNTER more than 200 years ago, atypical odontalgia (AO), or phantom tooth pain, is not universally known among dentists. AO is a persistent neuropathic pain which may be initiated after deafferentiation of trigeminal nerve fibers following root canal treatment, apicectomy, or tooth extraction. In the absence of pathological clinical or radiological findings, the diagnosis is made by exclusion. After a thorough patient education about the condition, pharmacological and psychological pain management is required. Invasive and irreversible treatment attempts are contraindicated.

  16. Atypical Manifestation of LPS-Responsive beige- like anchor (LRBA Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

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    Shahrzad Bakhtiar

    2016-09-01

    Full Text Available Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type1 diabetes mellitus, hypothyroidism, adrenal insufficiency and vitiligo. LPS-responsive beige-like anchor protein (LRBA deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation. The third child of consanguineous Egyptian parents (Patient 1 presented at six months of age with intractable enteropathy and failure to thrive. Later on he developed symptoms of adrenal insufficiency, autoimmune haemolytic anaemia, thrombocytopenia, and infectious complications due to immunosuppressive treatment. The severe enteropathy was non-responsive to the standard treatment and led to death at the age of 22 years. His younger sister (Patient 2 presented at the age of 12 to the endocrinology department with decompensated hypothyroidism, perioral vitiligo, delayed pubertal development, and growth failure without enteropathy and immunodeficiency.Using whole-exome sequencing (WES we identified a homozygous frameshift mutation (c.6862delT, p.Y2288MfsX29 in the LRBA gene in both siblings. To our knowledge our patient (patient 2 is the first case of LRBA deficiency described with predominant endocrine phenotype without immunodeficiency and enteropathy. LRBA deficiency should be considered as underlying disease in pediatric patients presenting with autoimmune endocrine symptoms. The same genetic mutation can manifest with a broad phenotypic spectrum without genotype-phenotype correlation. The awareness for disease symptoms among non-immunologists might be a key to early diagnosis. Further functional studies in LRBA deficiency are necessary to

  17. An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

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    Turan, Serap; Hughes, Claire; Atay, Zeynep; Guran, Tulay; Haliloglu, Belma; Clark, Adrian J L; Bereket, Abdullah; Metherell, Louise A

    2012-05-01

    Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated cortisol deficiency. Mutations in the gene encoding the ACTH receptor (MC2R) account for 25% of cases. One significant feature is generalized skin hyperpigmentation, which is thought to be due to elevated ACTH acting on the melanocortin 1 receptor (MC1R). The aim of the study was to determine the cause of a nonhyperpigmented case of FGD. The patient presented at 4 yr of age with hypoglycemia after prolonged fasting during a respiratory tract infection. She had further hypoglycemic attacks and was diagnosed with isolated glucocorticoid deficiency at 6 yr of age. Her parents were consanguineous, and she had two unaffected sisters. Her physical examination was normal, except that her height and weight were greater than the 97th centile for a sex- and age-matched reference population. Interestingly, she had no hyperpigmentation despite very high ACTH levels. Nucleotide sequence analysis revealed homozygous mutations c.478C>T in MC1R and c.455C>A in MC2R leading to R160W and T152K changes in the amino acid sequences, respectively. The R160W MC1R change has previously been implicated in a red hair/pale skin phenotype, and MC2R -T152K is trafficking defective. Both parents and two unaffected sisters were heterozygous for the MC1R mutation; additionally, one unaffected sister was heterozygous for the MC2R mutation, and the other was wild-type. We report an unusual case of FGD without hyperpigmentation due to coexistent MC1R/MC2R mutations. This case is important because it demonstrates for the first time that the assumption that the action of ACTH on MC1R causes skin hyperpigmentation is correct.

  18. Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

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    Elleder, Milan; Dvoráková, Lenka; Stolnaja, Larisa; Vlásková, Hana; Hůlková, Helena; Druga, Rastislav; Poupetová, Helena; Kostálová, Eva; Mikulástík, Josef

    2008-07-01

    This is the first neuropathology report of a male patient (born 1960-died 1975) with an extremely rare, atypical variant of CLN2 that has been diagnosed only in five families so far. The clinical history started during his preschool years with relatively mild motor and psychological difficulties, but with normal intellect and vision. Since age six there were progressive cerebellar and extrapyramidal symptomatology, amaurosis, and mental deterioration. Epileptic seizures were absent. The child died aged 15 years in extreme cachexy. Neuropathology revealed neurolysosomal storage of autofluorescent, curvilinear and subunit c of mitochondrial ATP synthase (SCMAS) rich material. The neuronal storage led to laminar neuronal depopulation in the cerebral cortex and to a practically total eradication of the cerebellar cortical neurons. The other areas of the central nervous system including hippocampus, which are usually heavily affected in classical forms of CLN2, displayed either a lesser degree or absence of neuronal storage, or storage without significant neuronal loss. Transformation of the stored material to the spheroid like perikaryal inclusions was rudimentary. The follow-up, after 30 years, showed heterozygous values of TPP1 (tripeptidylpeptidase 1) activity in the white blood cells of both parents and the sister. DNA analysis of CLN2 gene identified a paternal frequent null mutation c.622C > T (p.Arg208 X) in the 6th exon and a maternal novel mutation c.1439 T > G in exon 12 (p.Val480Gly). TPP1 immunohistochemistry using a specific antibody gave negative results in the brain and other organs. Our report supports the notion that the spectrum of CLN2 phenotypes may be surprisingly broad. The study revealed variable sensitivities in neuronal subpopulations to the metabolic defect which may be responsible for the variant's serious course.

  19. Beta-Ketothiolase Deficiency

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    Elsayed Abdelkreem MD, MSc

    2016-03-01

    Full Text Available Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges in the diagnosis of beta-ketothiolase deficiency have been encountered: atypical presentations have been reported and some other disorders, such as succinyl-CoA:3-oxoacid CoA transferase and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencies, can mimic the clinical and/or biochemical signs of beta-ketothiolase deficiency. A final diagnosis of beta-ketothiolase deficiency requires an enzymatic assay and/or a molecular analysis, but some caveats must be considered. Despite the reported missed cases, screening programs have successfully identified an increasing number of patients with beta-ketothiolase deficiency. Early diagnosis and management of beta-ketothiolase deficiency will enable prevention of its serious acute and chronic complications and ultimately improve the prognosis.

  20. Atypical charles bonnet syndrome

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    Priti Arun; Rajan Jain; Vaibhav Tripathi

    2013-01-01

    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.

  1. Atypical swallowing: a review.

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    Maspero, C; Prevedello, C; Giannini, L; Galbiati, G; Farronato, G

    2014-06-01

    Atypical swallowing is a myofunctional problem consisting of an altered tongue position during the act of swallowing. High incidence in population, multifactorial etiology and the recurring connection with the presence of malocclusions made it a topic of strong interest and discussion in science. The purpose of this review is to illustrate the current orientation on the topic of atypical swallowing, trying in particular to answer two questions: 1) what kind of connection is there between atypical swallowing and malocclusion; 2) what kind of therapy should be used to solve it. This review was conducted on the Medline database [www.ncbi.nim.nih.gov/pubmed] searching for the keywords "atypical swallowing" and "tongue thrust". We examined all the documents from the year 1990 onwards, excluding the ones about syndromic cases of the central motor system. The causal relation between the two problems seems to be biunique: some authors affirm that this oral habit starts as a compensation mechanism for a preexisting malocclusion (especially in case of open-bite); other texts show that it has a tendency to exacerbate cases of malocclusion; it is also proven that a non-physiological tongue thrust can negatively influence the progress of an ongoing orthodontic therapy. Thereby, the best therapeutic approach seems to be a multidisciplinary one: beside orthodontics, which is necessary to correct the malocclusion, it is essential to set up a myofunctional rehabilitation procedure to correct the oral habit, therefore granting long time permanent results. There is also proof of a substantial difference between the results obtained from early (deciduous or primary mixed dentition) or later treatments. The biunique causal relation between atypical swallowing and malocclusion suggests a multidisciplinary therapeutic approach, orthodontic and myofunctional, to temporarily solve both problems. An early diagnosis and a prompt intervention have a significantly positive influence on the

  2. Atypical femoral fractures

    OpenAIRE

    Giannini, Sandro; Chiarello, Eugenio; Tedesco, Giuseppe; Cadossi, Matteo; Luciani, Deianira; Mazzotti, Antonio; Donati, Davide Maria

    2013-01-01

    Bisphosphonates (BPs) represent the most widely used therapy for osteoporosis. Recently, a relationship between long-term treatment with BPs and a subset of atypical femoral fractures (AFFs) from below the lesser trochanter to the sovracondilar line has been described. Many etiopathogenetic theories have been invoked to explain AFFs: reduced bone turnover and increased osteoblast bone apposition with accumulation of microdamage and decreased bone toughness with subsequent increased risk of mi...

  3. Atypical Wernicke's encephalopathy showing involvement of substantia nigra.

    Science.gov (United States)

    Kalidass, Bhagheerathi; Sunnathkal, Rajani; Rangashamanna, Dr Vital; Paraswani, Rajesh

    2012-04-01

    Wernicke's encephalopathy is a metabolic disorder caused by deficiency of thiamine (vitamin B1) seen in alcoholics and even in nonalcoholic patients, classically presenting with a triad of ataxia, ophthalmoplegia, and altered mental status. Typical findings in magnetic resonance imaging are represented by symmetric signal alterations in medial thalami, mamillary bodies, tectal plate, and periaqueductal area and atypical findings involve lesions in cerebellum, midline vermis, red nuclei, dentate, caudate, cranial nerve nuclei, splenium and cerebral cortex. We report here a case of nonalcoholic starvation induced atypical WE showing symmetrical lesions in substantia nigra in addition to the classical neuroradiological findings. Copyright © 2010 by the American Society of Neuroimaging.

  4. Atypical odontalgia--an update.

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    Patel, Seena B; Boros, Audrey L; Kumar, Satish K S

    2012-09-01

    Atypical odontalgia is a commonly misdiagnosed condition that frequently leads to unnecessary dental treatments such as extraction and endodontic therapy. These treatments often worsen the pain. Despite greater recognition and understanding of this condition, proper diagnosis and treatment remains a challenge. It is believed that atypical odontalgia is a neuropathic condition. This article updates the current understanding of the etiology and pathophysiology of atypical odontalgia, and provides appropriate diagnostic and management approaches for this condition.

  5. Atypical presentation is dominant and typical for coeliac disease.

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    Rostami Nejad, Mohammad; Rostami, Kamran; Pourhoseingholi, Mohamad Amin; Nazemalhosseini Mojarad, Ehsan; Habibi, Manijeh; Dabiri, Hossein; Zali, Mohammad Reza

    2009-09-01

    Atypical presentation is the most prevalent form of coeliac disease (CD) and mostly clinically indistinguishable from other gastrointestinal (GI) disorders. The first objective of this study was to determine the prevalence of CD in patients with GI symptoms and the second objective was to characterize the typical manifestations of the atypical forms of CD. This was a cross sectional study comprising 5,176 individuals by random sampling of self-referred people from the Tehran province, during the years 2006-2007 in a primary care setting. From 5,176 individuals, 670 with GI symptoms were selected for coeliac serology including total immunoglobulin A (IgA) and anti-tissue transglutaminase (tTG) antibodies. Those with IgA deficiency were tested with IgG tTG. This study shows that 13% (670/5176) of self-referred patients to a general practice suffer from GI symptoms. Dyspepsia was the most common symptom in 25 seropositive cases similar to the rest of the study group. A positive anti-tTG test was found in 22 from 670 investigated subjects (17 women, 5 men) (95% CI: 1.70-4.30) and 8/670 were IgA deficient. A positive IgG tTG was detected in 3/8 IgA deficient individuals. The prevalence of CD antibodies in serologically screened samples excluding IgA-deficient was 3.3% and 3.7% when including those IgA-deficient with positive tTG-IgG. Non-specific GI symptoms seem to be the typical presentation of atypical CD. This study indicated that there is a high prevalence of CD antibodies among patients with GI symptoms (3.7%). More awareness regarding the atypical presentation of CD could be the key step in identifying asymptomatic patients.

  6. [Atypical scurvy associated with anorexia nervosa].

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    André, R; Gabrielli, A; Laffitte, E; Kherad, O

    2017-02-01

    Scurvy, or "Barlow's disease", is a widely described disease involving cutaneous and mucosal lesions resulting from vitamin C deficiency. Herein, we report a case of scurvy in a 48-year-old woman that was unusual in its atypical cutaneous-mucosal presentation as well as its association with anorexia nervosa. A 48-year-old woman treated for depression for several years was admitted to hospital for her impaired general state of health. Over the last year, she had presented palmoplantar rash and episodes of perimalleolar oedema. The clinical examination showed the patient to have wasting syndrome, with a BMI of 11.9kg/m2, lower-limb oedema, palmoplantar fissures, geographic tongue, telogen effluvium and purpuric petechiae on her right knee. However, no gingival bleeding was noted and there was no loss of tooth enamel. The remainder of the clinical examination was normal. Blood tests revealed extremely low vitamin C levels without any other associated deficiencies, as well as laboratory signs of cytolysis and anicteric cholestasis without inflammatory syndrome. The diagnosis of anorexia nervosa was made by psychiatrists, despite the unusual age of onset. Favorable clinical outcome was rapidly achieved via a one-month course of vitamin C supplements at a daily dose of 1g. The absence of classical buccal-dental symptoms and the presence of keratotic dermatosis with fissures and ulcers on the hands and feet are atypical in scurvy; however, this diagnosis was confirmed by the existence of purpura evoking capillary fragility, the patient's drastically low vitamin C level and the rapid subsidence of symptoms following treatment with oral vitamin C alone. Anorexia nervosa was doubtless the cause of deficiency. This situation is rare and a systematic review of the literature in Medline via PubMed showed that only three reports of scurvy associated with mental anorexia have been published since 1975. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  7. Atypical E2f functions are critical for pancreas polyploidization.

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    Matondo, Ramadhan B; Moreno, Eva; Toussaint, Mathilda J M; Tooten, Peter C J; van Essen, Saskia C; van Liere, Elsbeth A; Youssef, Sameh A; Bongiovanni, Laura; de Bruin, Alain

    2018-01-01

    The presence of polyploid cells in the endocrine and exocrine pancreas has been reported for four decades. In rodents, pancreatic polyploidization is initiated after weaning and the number of polyploid cells increases with age. Surprisingly the molecular regulators and biological functions of polyploidization in the pancreas are still unknown. We discovered that atypical E2f activity is essential for polyploidization in the pancreas, using an inducible Cre/LoxP approach in new-born mice to delete ubiquitously the atypical E2f transcription factors, E2f7 and E2f8. In contrast to its critical role in embryonic survival, conditional deletion of both of both atypical E2fs in newborn mice had no impact on postnatal survival and mice lived until old age. However, deficiency of E2f7 or E2f8 alone was sufficient to suppress polyploidization in the pancreas and associated with only a minor decrease in blood serum levels of glucose, insulin, amylase and lipase under 4 hours starvation condition compared to wildtype littermates. In mice with fewer pancreatic polyploid cells that were fed ad libitum, no major impact on hormones or enzymes levels was observed. In summary, we identified atypical E2fs to be essential for polyploidization in the pancreas and discovered that postnatal induced loss of both atypical E2fs in many organs is compatible with life until old age.

  8. Atypical Presentation of Neurosyphilis

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    L C Anand

    1980-01-01

    Full Text Available Five cases of neurospyhilis with atypical manifestation have been reported. Of these four cases presented as acute neurological illness and showed variable recovery after antisyp′iiilitic therapy. One of these cases had parinaud sip which was unaffected by treatment One case presented as dementia and gave poor response to therapy. In only one of these five cases was reagin in CSF demonstrated. Lange′s colloidal gold test was negative in all. As such failure to demonstrate reagin in CSF does not rule out the diagnosis of neurosyphilis. In an antibiotic era patients may inadvertently receive some antibiotics prior to presentation to a clinician and therefore are unlikely to present with typical neurological and laboratory findings.

  9. [Atypical bipolar disorders].

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    Gay, Christian

    2009-04-20

    Some epidemiologic data reveal how difficult detecting atypic bipolar disorders is: 9 years of progression before the diagnosis is properly established and a specific treatment is initiated, and intervention of 4 to 5 different specialists. Incomplete symptomatology, impulsive actions, periodic alcohol abuse, compulsive buying behaviors, acute delusional episodes, medicolegal actions and comorbidities can hide or modify bipolar symptomatology. Bipolarity should be systematically screened for in case of substance abuse (40 to 60 percent of bipolar disorders), anxiety disorders (panic disorder, generalized anxiety, obsessive-compulsive disorders etc.) and feeding disorders. In these various situations, history taking and clinical examination will help to detect signs of bipolarity: reaction to antidepressants, inefficiency, paradoxical worsening, development of behavior disorders and mood changes. Besides screening for thymic disorders, the examination will be completed by history taking of thymic disorders, suicide, toxic abuse, anxiety disorders, personal history of attention deficit hyperactivity disorder in childhood, depression or postpartum psychosis in women, as well as premenstrual depressive manifestations.

  10. Atypical odontalgia: a review.

    Science.gov (United States)

    Koratkar, Harish; Pedersen, Jerome

    2008-01-01

    Since persistent and chronic pain is more common in the head and neck region than in any other part of the body, dentists are more likely to encounter these rather complex cases in their practices. This article is a review and update on atypical odontalgia (AO). AO is a persistent neuropathic pain which may be initiated after deafferentiation of trigeminal nerve fibers following root canal treatment, apicectomy, or tooth extraction, or it may be of idiopathic origin. Details concerning its characteristics, pathophysiology, diagnostic criteria, differential diagnosis, and treatment are made. The aim of this article is to help the clinician with the diagnosis and management of AO. The prognosis for AO is most often only fair, and the administration of tricyclic antidepressants often resolves symptoms. Invasive and irreversible treatment attempts are not recommended.

  11. ATYPICAL KAWASAKI DISEASE.

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    Ristovski, Ljiljana; Milankov, Olgica; Vislavski, Melanija; Savić, Radojica; Bjelica, Milena

    2016-01-01

    Kawasaki disease is an acute vasculitis which occurs primarily in children under the age of 5. The etiology of the disease is still unknown. Diagnostic criteria for Kawasaki disease are fever and at least four of the five additional clinical signs. Incomplete Kawasaki disease should be taken into consideration in case of all children with unexplained fever for more than 5 days, associated with 2 or 3 of the main clinical findings of Kawasaki disease. The diagnosis of incomplete Kawasaki disease is based on echocardiographic findings indicating the involvement of the coronary arteries. Cardiac complications, mostly coronary artery aneurysm, can occur in 20% to 25% of untreated patients and in 4% of treated patients. CASE REPORT. In this report we present a case of atypical Kawasaki disease in a 3.5-month-old infant. As soon as the diagnosis was made, the patient received high doses of intravenous immunoglobulin, with the initial introduction of ibuprofen, then aspirin with a good clinical response. Due to the presence of aneurysm of coronary arteries, further therapy involved aspirin and clopidogrel over the following 3 months, and then only aspirin for 2 years. There was a gradual regression of the changes in the coronary blood vessels to the normalization of the echocardiographic findings after 2 years. Kawasaki disease is the second most common vasculitis of childhood, so it should be included in the differential diagnosis for any child with a prolonged unexplained fever. Atypical Kawasaki disease should be taken into consideration in cases when not all clinical criteria are present but coronary abnormalities are documented.

  12. Atypical depression: current perspectives

    Directory of Open Access Journals (Sweden)

    Łojko D

    2017-09-01

    Full Text Available Dorota Łojko,1 Janusz K Rybakowski1,2 1Department of Adult Psychiatry, 2Department of Child and Adolescent Psychiatry, Poznan University of Medical Sciences, Poznan, Poland Abstract: The history and present status of the definition, prevalence, neurobiology, and treatment of atypical depression (AD is presented. The concept of AD has evolved through the years, and currently, in Diagnostic and Statistical Manual of Mental Disorders (DSM, Fifth Edition, the specifier of depressive episode with atypical feature is present for both diagnostic groups, that is, depressive disorders and bipolar and related disorders. This specifier includes mood reactivity, hyperphagia, hypersomnia, leaden paralysis, and interpersonal rejection sensitivity. Prevalence rates of AD are variable, depending on the criteria, methodology, and settings. The results of epidemiological studies using DSM criteria suggest that 15%–29% of depressed patients have AD, and the results of clinical studies point to a prevalence of 18%–36%. A relationship of AD with bipolar depression, seasonal depression, and obesity has also been postulated. Pathogenic research has been mostly focused on distinguishing AD from melancholic depression. The differences have been found in biochemical studies in the areas of hypothalamic–pituitary–adrenal axis, inflammatory markers, and the leptin system, although the results obtained are frequently controversial. A number of findings concerning such differences have also been obtained using neuroimaging and neurophysiological and neuropsychological methods. An initial concept of AD as a preferentially monoamine oxidase inhibitor-responsive depression, although confirmed in some further studies, is of limited use nowadays. Currently, despite numerous drug trials, there are no comprehensive treatment guidelines for AD. We finalize the article by describing the future research perspectives for the definition, neurobiology, and treatment. A better

  13. Atypical depression: current perspectives

    Science.gov (United States)

    Łojko, Dorota; Rybakowski, Janusz K

    2017-01-01

    The history and present status of the definition, prevalence, neurobiology, and treatment of atypical depression (AD) is presented. The concept of AD has evolved through the years, and currently, in Diagnostic and Statistical Manual of Mental Disorders (DSM), Fifth Edition, the specifier of depressive episode with atypical feature is present for both diagnostic groups, that is, depressive disorders and bipolar and related disorders. This specifier includes mood reactivity, hyperphagia, hypersomnia, leaden paralysis, and interpersonal rejection sensitivity. Prevalence rates of AD are variable, depending on the criteria, methodology, and settings. The results of epidemiological studies using DSM criteria suggest that 15%–29% of depressed patients have AD, and the results of clinical studies point to a prevalence of 18%–36%. A relationship of AD with bipolar depression, seasonal depression, and obesity has also been postulated. Pathogenic research has been mostly focused on distinguishing AD from melancholic depression. The differences have been found in biochemical studies in the areas of hypothalamic–pituitary–adrenal axis, inflammatory markers, and the leptin system, although the results obtained are frequently controversial. A number of findings concerning such differences have also been obtained using neuroimaging and neurophysiological and neuropsychological methods. An initial concept of AD as a preferentially monoamine oxidase inhibitor-responsive depression, although confirmed in some further studies, is of limited use nowadays. Currently, despite numerous drug trials, there are no comprehensive treatment guidelines for AD. We finalize the article by describing the future research perspectives for the definition, neurobiology, and treatment. A better specification of diagnostic criteria and description of clinical picture, a genome-wide association study of AD, and establishing updated treatment recommendations for this clinical phenomenon should be

  14. A study of atypical APTT derivative curves on the ACL TOP coagulation analyser.

    Science.gov (United States)

    Solano, C; Zerafa, P; Bird, R

    2011-02-01

    The graphical representation of clotting data can provide useful information. A novel feature of the ACL TOP software allows display of clot reaction curves with superimposed first and second derivative curves. We noted atypical derivative plots associated with normal 'S'-shaped clot reaction curves in some abnormal activated partial thromboplastin time (APTT). We tested 179 citrate plasmas with four different APTT reagents on the ACL TOP. We documented the prevalence and utility of these APTT atypical derivative curves in these patients. Ellagic acid APTT reagents commonly produce atypical derivative curves despite normal 'S'-shaped clot reaction curves. Occasionally, these atypical second derivative curves may cause incorrect APTT results. With silica activator APTT reagents, atypical derivative curves were associated with genuine coagulation abnormalities such as single factor deficiencies and lupus anticoagulants (LAs). To our knowledge, this novel finding has not been reported. Atypical derivative curves seen in ellagic acid APTTs are of limited diagnostic use because of the frequency with which they occur. This may be related to the need to optimize the data reduction utilized on the ACL TOP for these reagents. With silica activator APTTs, the presence of atypical derivative curves proved to be a very simple tool when troubleshooting unexpected abnormal APTT results, commonly predicting a factor deficiency or LA that would warrant further investigation. The cause of these aberrant derivative curves is probably related to abnormal thrombin generation in the APTT test and warrants further study. © 2010 Blackwell Publishing Ltd.

  15. 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.

  16. 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. © The Author 2015. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  17. 'INDOTEST' in atypical hemicrania continua.

    Science.gov (United States)

    Baldacci, F; Nuti, A; Cafforio, G; Lucetti, C; Logi, C; Cipriani, G; Orlandi, G; Bonuccelli, U

    2008-03-01

    Hemicrania continua (HC) is an indomethacin-responsive headache characterized by a chronic, strictly unilateral, side-locked without side-shifting, persistent headache. We report three cases of HC with atypical features in which an acute administration of indomethacin 50 mg IM (INDOTEST) was performed. In all three cases INDOTEST predicted chronic responsiveness to indomethacin. Thus, in cases of HC with atypical features, INDOTEST could help for a correct diagnosis and therapy.

  18. Clinical and molecular review of atypical congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Taninee Sahakitrungruang

    2015-03-01

    Full Text Available Congenital adrenal hyperplasia (CAH is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis. More than 90% of cases are caused by a defect in the enzyme 21-hydroxylase. Four other enzyme deficiencies (cholesterol side-chain cleavage, 17α-hydroxylase [P450c17], 11β-hydroxylase [P450c11β], 3β-hydroxysteroid dehydrogenase in the steroid biosynthesis pathway, along with one cholesterol transport protein defect (steroidogenic acute regulatory protein, and one electrontransfer protein (P450 oxidoreductase account for the remaining cases. The clinical symptoms of the different forms of CAH result from the particular hormones that are deficient and those that are produced in excess. A characteristic feature of CAH is genital ambiguity or disordered sex development, and most variants are associated with glucocorticoid deficiency. However, in the rare forms of CAH other than 21-hydroxylase deficiency so-called "atypical CAH", the clinical and hormonal phenotypes can be more complicated, and are not well recognized. This review will focus on the atypical forms of CAH, including the genetic analyses, and phenotypic correlates.

  19. Clinical and molecular review of atypical congenital adrenal hyperplasia

    Science.gov (United States)

    2015-01-01

    Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis. More than 90% of cases are caused by a defect in the enzyme 21-hydroxylase. Four other enzyme deficiencies (cholesterol side-chain cleavage, 17α-hydroxylase [P450c17], 11β-hydroxylase [P450c11β], 3β-hydroxysteroid dehydrogenase) in the steroid biosynthesis pathway, along with one cholesterol transport protein defect (steroidogenic acute regulatory protein), and one electrontransfer protein (P450 oxidoreductase) account for the remaining cases. The clinical symptoms of the different forms of CAH result from the particular hormones that are deficient and those that are produced in excess. A characteristic feature of CAH is genital ambiguity or disordered sex development, and most variants are associated with glucocorticoid deficiency. However, in the rare forms of CAH other than 21-hydroxylase deficiency so-called "atypical CAH", the clinical and hormonal phenotypes can be more complicated, and are not well recognized. This review will focus on the atypical forms of CAH, including the genetic analyses, and phenotypic correlates. PMID:25883920

  20. National atypical mycobacteria survey, 2000.

    Science.gov (United States)

    Haverkort, Frank

    2003-01-01

    Infections with atypical mycobacteria in Australia during 2000 occurred at a rate of 1.8 cases per 100,000 population. The main sites of disease were the respiratory tract, soft tissue, and the lymphatics. The Mycobacterium avium complex was the most common group of mycobacteria isolated from respiratory, lymphatic sites, and blood. The rapidly growing mycobacteria, predominantly the M. fortuitum-M. abscessus-M. chelonae group were the most common soft tissue infections. Atypical mycobacteria were isolated from significant numbers of sputum 'smear positive' patients, requiring further tests to exclude M. tuberculosis. Geographical differences were observed for some Mycobacterium species, notably the isolation of M. haemophilum from Western Australia, and M. ulcerans from Victoria and Queensland. Newer molecular techniques, while improving precision and accuracy of identification, raise additional questions about the ecology of the atypical mycobacteria and their role in disease.

  1. 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.

  2. MANIFESTATIONS OF AGGRESSIVE ATYPICAL KAPOSI'S ...

    African Journals Online (AJOL)

    Infection by the human immunodeficiency virus (HIV) has since the mid-1980's been known to distinguish atypical, aggressive Kaposi's sarcoma (AAKS) from the endemic type in Africa (1). In our series at the University of Maiduguri Teaching Hospital, we recorded 44 patients with AAKS, 35 of them male and 9 female, giving ...

  3. Atypical odontalgia: phantom tooth pain.

    Science.gov (United States)

    Bates, R E; Stewart, C M

    1991-10-01

    The findings in 30 cases diagnosed as atypical odontalgia are presented. The clinical characteristics of these cases are compared with other cases reported in the literature. Three cases are described in detail. Patient understanding and treatment with tricyclic antidepressants are discussed together with medication side effects and interactions. The importance of deferring invasive procedures is emphasized.

  4. 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...... and magnetic resonance imaging data and obtained follow-up (FU) information on 77 of these patients over a mean duration of 4 years. The AIIDLs presented as a single lesion in 72 (80 %) patients and exhibited an infiltrative (n = 35), megacystic (n = 16), Baló (n = 10) or ring-like (n = 16) lesion appearance...... in 77 (86 %) patients. Additional multiple sclerosis (MS)-typical lesions existed in 48 (53 %) patients. During FU, a further clinical attack occurred rarely (23-35 % of patients) except for patients with ring-like AIIDLs (62 %). Further attacks were also significantly more often in patients...

  5. Atypical manifestations of early syphilis

    Directory of Open Access Journals (Sweden)

    R V Koranne

    1990-01-01

    Full Text Available A study of 36 untreated patients with early syphilis revealed atypical variations namely; long incubation period of 101 days in I patient, more than 3 chancres in 1, undermined margin of the chancre along with tenderness in 1 and moderate to severe tenderness of the ulcers in 2 cases. In 3 patients there was no indurations of the ulcers. Three patients with primary syphilis had unilateral lymphadenitis, and in I case the lymph nodes were not only tender but showed tendency towardsmatingawell. Insecondarysyphilis, 11 out of 16 patients having condylomata lata had no other muco-cutaneous lesions. Concomitant presence of other venereal disease to account for the atypical manifestations was discounted- by appropriate laboratory tests, response to therapeutic agents and follow up.

  6. Biopsychosocial Aspects of Atypical Odontalgia

    OpenAIRE

    Ciaramella, A.; Paroli, M.; Lonia, L.; Bosco, M.; Poli, P.

    2013-01-01

    Background. A few studies have found somatosensory abnormalities in atypical odontalgia (AO) patients. The aim of the study is to explore the presence of specific abnormalities in facial pain patients that can be considered as psychophysical factors predisposing to AO. Materials and Methods. The AO subjects (n = 18) have been compared to pain-free (n = 14), trigeminal neuralgia (n = 16), migraine (n = 17), and temporomandibular disorder (n = 14). The neurometer current perception threshold (C...

  7. Atypical odontalgia: a case report.

    Science.gov (United States)

    Koratkar, Harish; Koratkar, Sonal

    2008-01-01

    Diagnosis and treatment of orofacial pain is not uncommon; however, reaching a definitive diagnosis in these cases can be a complex challenge. Dentists are most likely to face this situation, because persistent and chronic pain is more common in the head and neck region than in any other part of the body. However, the complexities and diagnostic challenges mean that misdiagnosing neuropathic pain is common. This article presents a case of atypical odontalgia and illustrates the complexities involved when diagnosing the condition.

  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 chemokine receptor 4 shapes activated B cell fate.

    Science.gov (United States)

    Kara, Ervin E; Bastow, Cameron R; McKenzie, Duncan R; Gregor, Carly E; Fenix, Kevin A; Babb, Rachelle; Norton, Todd S; Zotos, Dimitra; Rodda, Lauren B; Hermes, Jana R; Bourne, Katherine; Gilchrist, Derek S; Nibbs, Robert J; Alsharifi, Mohammed; Vinuesa, Carola G; Tarlinton, David M; Brink, Robert; Hill, Geoffrey R; Cyster, Jason G; Comerford, Iain; McColl, Shaun R

    2018-01-31

    Activated B cells can initially differentiate into three functionally distinct fates-early plasmablasts (PBs), germinal center (GC) B cells, or early memory B cells-by mechanisms that remain poorly understood. Here, we identify atypical chemokine receptor 4 (ACKR4), a decoy receptor that binds and degrades CCR7 ligands CCL19/CCL21, as a regulator of early activated B cell differentiation. By restricting initial access to splenic interfollicular zones (IFZs), ACKR4 limits the early proliferation of activated B cells, reducing the numbers available for subsequent differentiation. Consequently, ACKR4 deficiency enhanced early PB and GC B cell responses in a CCL19/CCL21-dependent and B cell-intrinsic manner. Conversely, aberrant localization of ACKR4-deficient activated B cells to the IFZ was associated with their preferential commitment to the early PB linage. Our results reveal a regulatory mechanism of B cell trafficking via an atypical chemokine receptor that shapes activated B cell fate. © 2018 Kara et al.

  10. 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.

  11. Atypical temporomandibular joint pain: a case report.

    Science.gov (United States)

    Widmer, Charles G; Wold, Courtney C; Stoll, Ethan M; Dolwick, M Franklin

    2014-12-01

    Atypical temporomandibular joint (TMJ) pain can consist of an unusual intensity, location or set of pain descriptors that do not match what is traditionally observed for TMJ capsular pain, disc displacements or arthritic conditions. Presented in this case report is an atypical pain report regarding a unilateral TMJ pain as the chief complaint. An overview of typical vs atypical TMJ pain is also reviewed to highlight unusual signs and symptoms so that the clinician can identify these atypical presentations and pursue further diagnostic approaches. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Atypical disease phenotypes in pediatric ulcerative colitis

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  13. Is atypical odontalgia a psychological problem?

    Science.gov (United States)

    Graff-Radford, S B; Solberg, W K

    1993-05-01

    Several authors have asserted that psychological factors are the underlying cause of atypical odontalgia. However, objective evidence is lacking to support this claim. In this study, the Minnesota Multiphasic Personality Inventory was used to assess psychological functioning of an atypical odontalgia population. Means of the standard scores for each Minnesota Multiphasic Personality Inventory scale were within normal ranges. Standard scores for atypical odontalgia profiles compared with standard scores for a chronic headache group (matched for age, sex, and chronicity) were similar and scales for both groups were within normal ranges. These findings fail to support psychological dysfunction as a primary condition associated with patients suffering from atypical odontalgia.

  14. [Atypical courses of rheumatoid arthritis].

    Science.gov (United States)

    Keitel, W

    1979-04-01

    For the investigation of the question of atypical forms of course selected findings of a multicentric electronic data processing investigation carried out on 1,000 patients with manifest rheumatoid arthritis were attracted. In these cases differences of the clinical symptomatology in the sexes were the result, at a different moment of the beginning and concerning serological findings. The latter was concerned clearly by the titres of rheumatoid factors, only suggestively cases with antinuclear factors. These differences, however, were not regarded as special forms in the sense of separated disease units. They rather represent only statistically provable deviations, the borderlines of which are by far transgressed by individual characteristics.

  15. Iodine Deficiency

    NARCIS (Netherlands)

    Zimmermann, M.B.

    2009-01-01

    Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Globally, it is estimated that 2 billion individuals have an insufficient iodine intake, and South Asia and sub-Saharan Africa are particularly affected.

  16. 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.

  17. Constrictive Pericarditis Associated with Atypical Antipsychotics

    Directory of Open Access Journals (Sweden)

    Kuan-chin Jean Chen

    2012-01-01

    Full Text Available We report the successful surgical intervention in a case of constrictive pericarditis after long-term use of atypical antipsychotics. Pericarditis developed in our patient with a longstanding history of schizophrenia treated with atypical antipsychotics. Pericardiectomy was undertaken, and the patient's presenting symptom of shortness of breath resolved subsequently with an uneventful postoperative course.

  18. Atypical manifestations of tinea faciei

    Directory of Open Access Journals (Sweden)

    Mittal R

    1996-01-01

    Full Text Available A study of 58 paitents of tinea faciei was conducted. Twenty five (43.1% patients had history of photosensitivity. Twenty eight (48.2% patients were applying topical steroids, 2 (3.4% patients were on 10 mg of prednisolone daily. Associated tinea of other sites were observed in 14 (24.13%. 23 (39.6% patients had typical circinate, arcuate, annular plaques with raised margin showing vesiculo-pustules. Atypical manifestations were in the form of arcuate plaques on the pinna in 4 patients, erythematous plaques full of vesiculo-pustules without central clearing in 3. Thirty two (55.17% patients had plaques with broad edges and indistinct central clearing. In 2 patients lesions resembled discoid lupus erythematosus. Skin scrapings for fungus was positive in 36 (62.06% cases. All patients responded to systemic griseofulvin 10mg/kg with 1% clotrimazole topicaly in 4-8 weeks.

  19. 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.

  20. 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.

  1. A novel encephalopathy in a thiamine-deficient dog resembling ...

    African Journals Online (AJOL)

    A novel encephalopathy in a thiamine-deficient dog resembling human Wernicke's disease with atypical MRI pattern. ... Thiamine is a water-soluble vitamin, which participates in several vital metabolic pathways involved in energy metabolism and neurotransmitter synthesis of mammals. In companion animals thiamine ...

  2. [Neurological manifestations in atypical Kawasaki disease].

    Science.gov (United States)

    Martínez-Guzmán, Edgar; Gámez-González, Luisa Berenise; Rivas-Larrauri, Francisco; Sorcia-Ramírez, Giovanni; Yamazaki-Nakashimada, Marco

    2017-01-01

    Kawasaki disease (KD) is a type of systemic vasculitis of unknown etiology. Atypical Kawasaki disease is defined as that where there are signs and symptoms not corresponding to the classical criteria for this nosological entity. Children with atypical Kawasaki disease may present with acute abdominal symptoms, meningeal irritation, pneumonia or renal failure. We describe 4 children with ages ranging from 2 to 12 years who had atypical Kawasaki disease, with neurological and gastrointestinal symptoms as part of the systemic presentation of the disease. Treatment consisted of immunoglobulin and corticosteroids with good evolution. KD is a systemic vasculitis that can involve many territories. Atypical manifestations can mislead the clinician and delay diagnosis. Pediatricians and sub-specialists should be aware of these neurological manifestations in order to provide adequate and opportune treatment.

  3. Atypical CT findings in bacterial meningoencephalitis

    Energy Technology Data Exchange (ETDEWEB)

    Fink, I.J.; Dillon, W.P.; Brant-Zawadzki, M.; Danziger, A.; Rechthand, E.

    1984-01-01

    Computed tomography has become a valuable imaging modality in the evaluation and management of most intracerebral infections. We report two cases of intracranial infections with atypical CT findings, and attempt to correlate these findings with the pathophysiology.

  4. 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.

  5. Atypical odontalgia. Its aetiology and prognosis.

    Science.gov (United States)

    Brooke, R I; Schnurr, R F

    1993-12-01

    Atypical odontalgia is a chronic pain disorder in which persistent pain develops in clinically normal teeth. Its possible aetiology and long-term prognosis are discussed. Suggested management regimes are reviewed.

  6. Atypical Neurological Manifestations Of Hypokalemia

    Directory of Open Access Journals (Sweden)

    pal P K

    2004-01-01

    Full Text Available A part from the well-established syndrome of motor paralysis, hypokalemia may present with atypical neurological manifestations, which are not well documented in literature. Methods: We treated 30 patients of hypokalemia whose neurological manifestations improved after corrections of hypokalemia. A retrospective chart review of the clinical profile was done with emphasis on the evolution of symptoms and occurrence of unusual manifestations. Results: Twenty-eight patients had subacute quadriparesis with duration of symptoms varying from 10hrs to 7 days and two had slowly progressive quadriparesis. Fifty percent of patients had more than one attack of paralysis. Early asymmetric weakness (11, stiffness and abnormal posture of hands (7, predominant bibrachial weakness (4, distal paresthesias (4, hemiparesthesia (1, hyperreflexia(4, early severe weakness of neck muscles (3, chorea (1, trismus (1,and, retention of urine (1 were the unusual features observed. The means level of serum potassium on admission was 2.1+0.6mEq/L.and the serum creatine kinase was elevated in 14 out of 17 patients. All patients except two had complete recovery.

  7. 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.

  8. Biopsychosocial aspects of atypical odontalgia.

    Science.gov (United States)

    Ciaramella, A; Paroli, M; Lonia, L; Bosco, M; Poli, P

    2013-01-01

    Background. A few studies have found somatosensory abnormalities in atypical odontalgia (AO) patients. The aim of the study is to explore the presence of specific abnormalities in facial pain patients that can be considered as psychophysical factors predisposing to AO. Materials and Methods. The AO subjects (n = 18) have been compared to pain-free (n = 14), trigeminal neuralgia (n = 16), migraine (n = 17), and temporomandibular disorder (n = 14). The neurometer current perception threshold (CPT) was used to investigate somatosensory perception. Structured clinical interviews based on the DSM-IV axis I and DSM III-R axis II criteria for psychiatric disorders and self-assessment questionnaires were used to evaluate psychopathology and aggressive behavior among subjects. Results. Subjects with AO showed a lower A β , A δ , and C trigeminal fiber pain perception threshold when compared to a pain-free control group. Resentment was determined to be inversely related to A β (rho: 0.62, P < 0.05), A δ (rho: 0.53, P < 0.05) and C fibers (rho: 0.54, P < 0.05), and depression was inversely related with C fiber (rho: 0.52, P < 0.05) perception threshold only in AO subjects. Conclusion. High levels of depression and resentment can be considered predictive psychophysical factors for the development of AO after dental extraction.

  9. [Clinical features of atypical refractory anemia (RA)].

    Science.gov (United States)

    Matsuda, A; Jinnai, I; Kusumoto, S; Shiramatsu, F; Bessho, M; Saito, M; Hirashima, K

    1991-08-01

    Twenty-three patients with bicytopenia or pancytopenia were retrospectively studied. The patients with underlying disorders, blast count of more than 5% on bone marrow (BM) aspirate, blast count of more than 1% on peripheral blood or ringed sideroblast count of more than 15% on BM aspirate were excluded. According to Yoshida's criteria, 23 patients were classified into 6 subtypes [AA (aplastic anemia)1: typical AA, AA2: atypical AA, MDS (myelodysplastic syndrome)3: typical RA (refractory anemia, MDS4-6: atypical RA], and AA1 7 cases; AA2 2 cases; MDS3 5 cases; MDS4 1 case; MDS5 2 cases; MDS6 6 cases. To clarify the clinical features of atypical RA group (MDS4-6), we investigated ferrokinetics, RBC life span, karyotype, serum Epo (erythropoietin) concentration, response to therapy and prognosis. Results were as follows: 1) all three RA patients who were younger than 30 years old were included in atypical RA group, 2) in ferrokinetics study PID (plasma iron disappearance time) values of MDS4 and MDS6 patients ranged between those of AA1 and those of MDS3 patients (5 of 7 patients), 3) two cases who developed leukemia belonged to typical RA group, 4) patients with atypical RA showed response to therapy and their prognosis were better than those with typical RA. These observations suggest that atypical RA have different clinical features from typical RA.

  10. ATYPICAL ANTIPSYCHOTICS USE IN CHILDREN AND ADOLESCENTS

    Directory of Open Access Journals (Sweden)

    Nataša Potočnik-Dajčman

    2002-06-01

    Full Text Available Background. Classical antipsychotics – neuroleptics are one of the most frequently prescribed psychotropic drugs in child psychiatry. Atypical antipsychotics are used for the same indications – psychotic (schizophrenia as well as unpsychotic disorders (pervasive developmental disorders, mood disorders, conduct disorders and tics disorders. It is surprising that the studies on their use with regard to this age group are rather rare. They are carried out on a small number of samples and only exceptionally double blind. This article summarizes published clinical experience with atypical antipsychotics in children and adolescents. A short overview of pharmacodynamics, pharmacokinetics and side effects is given. Schizophrenia and pervasive developmental disorders are major indications for use of atypical antipsychotics in children and adolescents, but they have also been successfully used for other disorders such as aggressive behaviour, tics and anorexia nervosa.Conclusions. With better side-effect profile, some of the atypical antipsychotics are expected to be doctrinally recognised as the first-line treatment for childhood schizophrenia and pervasive developmental disorders. However, more long-term studies carried out on a larger sample are needed. Atypical antipsychotics are already used in everyday practice as first-line treatment of childhood and adolescents schizophrenia.

  11. Atypical odontalgia: a review of the literature.

    Science.gov (United States)

    Melis, Marcello; Lobo, Silvia Lobo; Ceneviz, Caroline; Zawawi, Khalid; Al-Badawi, Emad; Maloney, George; Mehta, Noshir

    2003-01-01

    To review previous reports of cases of atypical odontalgia to examine its epidemiological and clinical characteristics and to explore the etiology and pathophysiology of the disease. Atypical odontalgia is one of many painful conditions that affect the oral cavity and is often overlooked in the differential diagnosis. A search of the literature was performed for all cases of atypical odontalgia reported from 1966 to the present. The typical clinical presentation of atypical odontalgia that has been reported involves pain in a tooth in the absence of any sign of pathology; the pain may spread to areas of the face, neck, and shoulder. The existing literature suggests that this condition occurs in 3% to 6% of the patients who undergo endodontic treatment, with high female preponderance and a concentration of cases in the fourth decade of life. Deafferentation seems to be the most likely mechanism to initiate the pain, but psychological factors, alteration of neural mechanisms, and even an idiopathic mechanism have been implicated. Not all reported cases were preceded by trauma to the teeth or gums. The treatment of choice is a tricyclic antidepressant, alone or in combination with a phenothiazine. The outcome is usually fair, with many patients obtaining complete relief from pain. Especially in the absence of overt pathology, particular attention should be paid to avoiding any unnecessary and potentially dangerous dental intervention on the teeth. Atypical odontalgia is surprisingly common, of uncertain origin, and potentially treatable.

  12. Atypical Mg-poor Milky Way Field Stars with Globular Cluster Second-generation-like Chemical Patterns

    Science.gov (United States)

    Fernández-Trincado, J. G.; Zamora, O.; García-Hernández, D. A.; Souto, Diogo; Dell'Agli, F.; Schiavon, R. P.; Geisler, D.; Tang, B.; Villanova, S.; Hasselquist, Sten; Mennickent, R. E.; Cunha, Katia; Shetrone, M.; Allende Prieto, Carlos; Vieira, K.; Zasowski, G.; Sobeck, J.; Hayes, C. R.; Majewski, S. R.; Placco, V. M.; Beers, T. C.; Schleicher, D. R. G.; Robin, A. C.; Mészáros, Sz.; Masseron, T.; García Pérez, Ana E.; Anders, F.; Meza, A.; Alves-Brito, A.; Carrera, R.; Minniti, D.; Lane, R. R.; Fernández-Alvar, E.; Moreno, E.; Pichardo, B.; Pérez-Villegas, A.; Schultheis, M.; Roman-Lopes, A.; Fuentes, C. E.; Nitschelm, C.; Harding, P.; Bizyaev, D.; Pan, K.; Oravetz, D.; Simmons, A.; Ivans, Inese I.; Blanco-Cuaresma, S.; Hernández, J.; Alonso-García, J.; Valenzuela, O.; Chanamé, J.

    2017-09-01

    We report the peculiar chemical abundance patterns of 11 atypical Milky Way (MW) field red giant stars observed by the Apache Point Observatory Galactic Evolution Experiment (APOGEE). These atypical giants exhibit strong Al and N enhancements accompanied by C and Mg depletions, strikingly similar to those observed in the so-called second-generation (SG) stars of globular clusters (GCs). Remarkably, we find low Mg abundances ([Mg/Fe] polluted by massive AGB stars) or the result of exotic binary systems. We speculate that the stars Mg-deficiency as well as the orbital properties suggest that they could have an extragalactic origin. This discovery should guide future dedicated spectroscopic searches of atypical stellar chemical patterns in our Galaxy, a fundamental step forward to understanding the Galactic formation and evolution.

  13. Iron deficiency

    DEFF Research Database (Denmark)

    Schou, Morten; Bosselmann, Helle; Gaborit, Freja

    2015-01-01

    BACKGROUND: Both iron deficiency (ID) and cardiovascular biomarkers are associated with a poor outcome in heart failure (HF). The relationship between different cardiovascular biomarkers and ID is unknown, and the true prevalence of ID in an outpatient HF clinic is probably overlooked. OBJECTIVES.......043). CONCLUSION: ID is frequent in an outpatient HF clinic. ID is not associated with cardiovascular biomarkers after adjustment for traditional confounders. Inflammation, but not neurohormonal activation is associated with ID in systolic HF. Further studies are needed to understand iron metabolism in elderly HF...

  14. Weight change after an atypical antipsychotic switch.

    Science.gov (United States)

    Ried, L Douglas; Renner, Bernard T; Bengtson, Michael A; Wilcox, Brian M; Acholonu, Wilfred W

    2003-10-01

    Atypical antipsychotics successfully treat schizophrenia and other conditions, with a lower incidence of extrapyramidal side effects than other agents used in treatment of these disorders. However, some atypical antipsychotics are associated with weight gain. To quantify the impact on weight and identify atypical antipsychotics causing the least amount of weight gain among patients switched from risperidone to olanzapine and olanzapine to risperidone. Patients included in the study (n = 86) were > or =18 years and had received > or =2 prescriptions for risperidone or olanzapine for > or =60 days, switched to the other atypical antipsychotic, and were dispensed > or =2 prescriptions for at least 60 days after the index date. Age, weight, and body mass index (BMI) were retrospectively abstracted from automated databases containing patient-specific prescription and vital sign information. At the time of their switch, the average patient age was 53.2 years (range 25-83). The average weight change in patients switched to olanzapine (n = 47) was +2.3 kg (p = 0.01) and the BMI change was +0.8 kg/m(2) (p = 0.02). The average percent body weight change was +2.8% and the BMI change was +3.0%. The average weight change after patients switched to risperidone (n = 39) was -0.45 kg (p = 0.69) and BMI change was -0.2 kg/m2 (p = 0.64). The average percentage weight change was -0.4% and BMI change was -0.5%. Practitioners' concern regarding weight changes after switching atypical antipsychotics seems warranted and patients should be provided consistent, ongoing weight monitoring. Further investigations should examine whether weight changes associated with atypical antipsychotic treatment further jeopardize this already at-risk population for severe comorbid conditions such as hypertension, coronary artery disease, and type 2 diabetes.

  15. Atypical radiological findings in cerebral hydatid disease.

    Science.gov (United States)

    Benzagmout, Mohammed; Maaroufi, Mustapha; Chakour, Khalid; Chaoui, Mohammed E

    2011-07-01

    Cerebral hydatid disease is very rare, representing only 2% of all cerebral space occupying lesions. The diagnosis is usually based on a pathognomonic CT pattern. Exceptionally, the image is atypical raising suspicion of many differential diagnoses such as intracerebral infectious, vascular lesions, or tumors. We report 2 atypical cases of cerebral hydatid cysts diagnosed in a 21, and a 24-year-old woman. The CT scan results suggest oligodendroglioma in the first case and brain abscess in the second. An MRI was helpful in the diagnosis of the 2 cases. Both patients underwent successful surgery with a good outcome. The hydatid nature of the cyst was confirmed by histology in both cases.

  16. Pediatric Melanoma and Atypical Melanocytic Neoplasms.

    Science.gov (United States)

    Sreeraman Kumar, Radhika; Messina, Jane L; Reed, Damon; Navid, Fariba; Sondak, Vernon K

    2016-01-01

    Melanoma is uncommon in the pediatric age range, but is increasing in frequency and often presents with atypical features compared to the classic ABCDE criteria common to adult melanoma cases. Moreover, many melanocytic neoplasms in childhood pose diagnostic challenges to the pathologist, and sometimes cannot be unequivocally classified as benign nevi or melanoma. This chapter addresses the evaluation and management of pediatric patients with melanoma and atypical melanocytic neoplasms, including the roles of and unresolved questions surrounding sentinel lymph node biopsy, completion lymphadenectomy, adjuvant therapy, and treatment of advanced disease.

  17. Primary lateral sclerosis mimicking atypical parkinsonism

    DEFF Research Database (Denmark)

    Norlinah, Ibrahim M; Bhatia, Kailash P; Østergaard, Karen

    2007-01-01

    Primary lateral sclerosis (PLS), the upper motor neurone variant of motor neurone disease, is characterized by progressive spinal or bulbar spasticity with minimal motor weakness. Rarely, PLS may present with clinical features resembling parkinsonism resulting in occasional misdiagnosis as one...... of the atypical parkinsonian syndromes. Here we describe five patients initially referred with a diagnosis of levodopa-unresponsive atypical parkinsonism (n = 4) or primary progressive multiple sclerosis (n = 1), but subsequently found to have features consistent with PLS instead. Onset age varied from 49 to 67...

  18. The extracellular domain of myelin oligodendrocyte glycoprotein elicits atypical experimental autoimmune encephalomyelitis in rat and Macaque species.

    Directory of Open Access Journals (Sweden)

    Alan D Curtis

    Full Text Available Atypical models of experimental autoimmune encephalomyelitis (EAE are advantageous in that the heterogeneity of clinical signs appears more reflective of those in multiple sclerosis (MS. Conversely, models of classical EAE feature stereotypic progression of an ascending flaccid paralysis that is not a characteristic of MS. The study of atypical EAE however has been limited due to the relative lack of suitable models that feature reliable disease incidence and severity, excepting mice deficient in gamma-interferon signaling pathways. In this study, atypical EAE was induced in Lewis rats, and a related approach was effective for induction of an unusual neurologic syndrome in a cynomolgus macaque. Lewis rats were immunized with the rat immunoglobulin variable (IgV-related extracellular domain of myelin oligodendrocyte glycoprotein (IgV-MOG in complete Freund's adjuvant (CFA followed by one or more injections of rat IgV-MOG in incomplete Freund's adjuvant (IFA. The resulting disease was marked by torticollis, unilateral rigid paralysis, forelimb weakness, and high titers of anti-MOG antibody against conformational epitopes of MOG, as well as other signs of atypical EAE. A similar strategy elicited a distinct atypical form of EAE in a cynomolgus macaque. By day 36 in the monkey, titers of IgG against conformational epitopes of extracellular MOG were evident, and on day 201, the macaque had an abrupt onset of an unusual form of EAE that included a pronounced arousal-dependent, transient myotonia. The disease persisted for 6-7 weeks and was marked by a gradual, consistent improvement and an eventual full recovery without recurrence. These data indicate that one or more boosters of IgV-MOG in IFA represent a key variable for induction of atypical or unusual forms of EAE in rat and Macaca species. These studies also reveal a close correlation between humoral immunity against conformational epitopes of MOG, extended confluent demyelinating plaques in

  19. The Extracellular Domain of Myelin Oligodendrocyte Glycoprotein Elicits Atypical Experimental Autoimmune Encephalomyelitis in Rat and Macaque Species

    Science.gov (United States)

    Curtis, Alan D.; Taslim, Najla; Reece, Shaun P.; Grebenciucova, Elena; Ray, Richard H.; Rosenbaum, Matthew D.; Wardle, Robert L.; Van Scott, Michael R.; Mannie, Mark D.

    2014-01-01

    Atypical models of experimental autoimmune encephalomyelitis (EAE) are advantageous in that the heterogeneity of clinical signs appears more reflective of those in multiple sclerosis (MS). Conversely, models of classical EAE feature stereotypic progression of an ascending flaccid paralysis that is not a characteristic of MS. The study of atypical EAE however has been limited due to the relative lack of suitable models that feature reliable disease incidence and severity, excepting mice deficient in gamma-interferon signaling pathways. In this study, atypical EAE was induced in Lewis rats, and a related approach was effective for induction of an unusual neurologic syndrome in a cynomolgus macaque. Lewis rats were immunized with the rat immunoglobulin variable (IgV)-related extracellular domain of myelin oligodendrocyte glycoprotein (IgV-MOG) in complete Freund’s adjuvant (CFA) followed by one or more injections of rat IgV-MOG in incomplete Freund’s adjuvant (IFA). The resulting disease was marked by torticollis, unilateral rigid paralysis, forelimb weakness, and high titers of anti-MOG antibody against conformational epitopes of MOG, as well as other signs of atypical EAE. A similar strategy elicited a distinct atypical form of EAE in a cynomolgus macaque. By day 36 in the monkey, titers of IgG against conformational epitopes of extracellular MOG were evident, and on day 201, the macaque had an abrupt onset of an unusual form of EAE that included a pronounced arousal-dependent, transient myotonia. The disease persisted for 6–7 weeks and was marked by a gradual, consistent improvement and an eventual full recovery without recurrence. These data indicate that one or more boosters of IgV-MOG in IFA represent a key variable for induction of atypical or unusual forms of EAE in rat and Macaca species. These studies also reveal a close correlation between humoral immunity against conformational epitopes of MOG, extended confluent demyelinating plaques in spinal cord

  20. Disentangling the Emerging Evidence around Atypical Fractures

    DEFF Research Database (Denmark)

    Abrahamsen, Bo; Clark, Emma M

    2012-01-01

    Atypical femur fractures are rare but a growing concern, as they are more common in patients who use bisphosphonates. The best radiology-based studies have had access to only short-term exposure data, while the studies using prescription databases with substantial long-term data did not have access...

  1. 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…

  2. 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.

  3. Atypical Neural Self-Representation in Autism

    Science.gov (United States)

    Lombardo, Michael V.; Chakrabarti, Bhismadev; Bullmore, Edward T.; Sadek, Susan A.; Pasco, Greg; Wheelwright, Sally J.; Suckling, John; Baron-Cohen, Simon

    2010-01-01

    The "self" is a complex multidimensional construct deeply embedded and in many ways defined by our relations with the social world. Individuals with autism are impaired in both self-referential and other-referential social cognitive processing. Atypical neural representation of the self may be a key to understanding the nature of such impairments.…

  4. 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.

  5. 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.

  6. 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),

  7. Lymph node dissection in atypical endometrial hyperplasia.

    Science.gov (United States)

    Taşkın, Salih; Kan, Özgür; Dai, Ömer; Taşkın, Elif A; Koyuncu, Kazibe; Alkılıç, Ayşegül; Güngör, Mete; Ortaç, Fırat

    2017-09-01

    The rate of concomitant endometrial carcinoma in patients with atypical endometrial hyperplasia is high. We aimed to investigate the role of lymphadenectomy in deciding adjuvant treatment in patients with concomitant atypical endometrial hyperplasia and endometrial carcinoma. Women with atypical endometrial hyperplasia were enrolled in this retrospective study. Lymph node dissection was performed in only some patients who gave informed consent if their surgeon elected to do so, or if the intraoperative findings necessitated. The final histopathologic evaluations of surgical specimens were compared with endometrial biopsy results. Eighty eligible patients were evaluated. Seventy-two (90%) patients had complex hyperplasia with atypia, and 8 (10%) patients had simple hyperplasia with atypia. Hysterectomy and bilateral salpingo-oophorectomy were performed to all patients; 37 also underwent lymph node dissection. Lymph node dissection was extended to the paraaortic region in 9 of 37 patients. The concomitant endometrial carcinoma rate was 50%. Two patients had lymph node metastasis. Among 40 cases of carcinoma, 17 had deep myometrial invasion and/or cervical or ovarian involvement or grade 2 tumors with superficial myometrial invasion on hysterectomy specimens; 27.5% of all carcinomas were stage Ib or higher. The concomitant endometrial carcinoma rate was high in patients with atypical endometrial hyperplasia. Nearly half of these patients had risk factors for extrauterine spread. Lymph node dissection might be helpful to decide adjuvant treatment.

  8. 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.

  9. Th,e Diagnosis of Atypical Varicella*

    African Journals Online (AJOL)

    tion from generalized herpes simplex or variola virus infections. Atypical varicella may show widespread bullous or haemorrhagic cutaneous lesions and visceral involvement may occur with lesions in practically every tissue of the body. A feature of varicella is the affinity for epithelial tissues and the early involvement of the ...

  10. Infant Perception of Atypical Speech Signals

    Science.gov (United States)

    Vouloumanos, Athena; Gelfand, Hanna M.

    2013-01-01

    The ability to decode atypical and degraded speech signals as intelligible is a hallmark of speech perception. Human adults can perceive sounds as speech even when they are generated by a variety of nonhuman sources including computers and parrots. We examined how infants perceive the speech-like vocalizations of a parrot. Further, we examined how…

  11. latrogenic Pulpal Injury Masquerading as Atypical Odontalgia

    OpenAIRE

    Praveena Tantradi

    2011-01-01

    Several pain conditions may mimic atypical odontalgia (AO). Diagnosis of AO is made by ruling out other pain conditions. It is said that the most difficult diagnoses to rule out are pulpal pain condition. This report presents a case of iatrogenic pulpal injury mimicking AO.

  12. latrogenic Pulpal Injury Masquerading as Atypical Odontalgia

    Directory of Open Access Journals (Sweden)

    Praveena Tantradi

    2011-01-01

    Full Text Available Several pain conditions may mimic atypical odontalgia (AO. Diagnosis of AO is made by ruling out other pain conditions. It is said that the most difficult diagnoses to rule out are pulpal pain condition. This report presents a case of iatrogenic pulpal injury mimicking AO.

  13. VLCAD deficiency

    DEFF Research Database (Denmark)

    Boneh, A; Andresen, B S; Gregersen, N

    2006-01-01

    We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria (prevalence rate: 1:31,500). We identified seven known and two new mutations in our patients (2/6 homozygotes; 4/6 compound heterozygotes). Blood...... samples taken at age 48-72 h were diagnostic whereas repeat samples at an older age were normal in 4/6 babies. Urine analysis was normal in 5/5. We conclude that the timing of blood sampling for newborn screening is important and that it is important to perform mutation analysis to avoid false......-negative diagnoses of VLCADD in asymptomatic newborn babies. In view of the emerging genotype-phenotype correlation in this disorder, the information derived from mutational analysis can be helpful in designing the appropriate follow-up and therapeutic regime for these patients....

  14. Atypical Food Packaging Affects The Persuasive Impact of Product Claims

    NARCIS (Netherlands)

    van Ooijen, M.L.; Fransen, P.W.J.; Verlegh, P.W.J.; Smit, E.G.

    2016-01-01

    Atypical food packaging draws attention in the retail environment, and therefore increases product salience. However, until now, no research has focused on how atypical packaging affects the persuasive impact of other food information. In the present study, we propose that atypical packaging

  15. Atypical food packaging affects the persuasive impact of product claims

    NARCIS (Netherlands)

    van Ooijen, I.; Fransen, M.L.; Verlegh, P.W.J.; Smit, E.G.

    Atypical food packaging draws attention in the retail environment, and therefore increases product sal- ience. However, until now, no research has focused on how atypical packaging affects the persuasive impact of other food information. In the present study, we propose that atypical packaging

  16. Prevalence and correlates of atypical patterns of drug use progression

    African Journals Online (AJOL)

    None of the anxiety or mood disorders were associated with atypical patterns of use. Atypical patterns of drug use were not associated with increased risk for a lifetime substance use disorder. Conclusion: Atypical patterns of drug use initiation seem more prevalent in South Africa compared to other countries. The early use ...

  17. Carnitine deficiency.

    Science.gov (United States)

    Răşanu, T; Mehedinţi-Hâncu, Mihaela; Alexianu, Marilena; Mehedinţi, T; Gheorghe, Emma; Damian, Irene

    2012-01-01

    We present the case of a female patient, aged 12 years, with fatigability and exertional myalgias, progressively developed within the last two years. Negative family history, as well as negative personal medical history, were found. At physical examination, short stature, proximal muscle weakness and mild hepatomegaly were noted. Urine ketones level was slightly decreased, serum transaminases, creatine kinase and lactate dehydrogenase levels were increased. Electromyographical examination showed a myopathic non-specific pattern. Deltoid muscle biopsy revealed: small, clear vesicles are present on Hematoxylin-Eosin and modified Gömöri trichrome stains; modified Gömöri trichrome stain also revealed muscle fibers (especially type I of muscle fibers) having mild to moderate mitochondrial proliferation (red rim and speckled sarcoplasm). The lipid storage has been well demonstrated by Sudan Black stain, which revealed small lipid droplets in type I muscle fibers. Abnormal internal architecture with a punctate pattern was showed by adenine dinucleotide tetrazolium reductase and succinate dehydrogenase stains. Electron microscopy showed small inter-myofibrillar accumulations of round, amorphous, homogeneous acellular substances that are not membrane bounded. These features indicate that these are neutral fat (lipid) droplets. Subsarcolemmal accumulations of mitochondria were also revealed. The differential diagnosis of this case is discussed, and the up to date general data concerning carnitine deficiency are presented. The aim of our case-report is to emphasize the role of muscle biopsy in carnitine deficiency, as well as to remind the necessity of keeping in mind such metabolic disorders when doing the differential diagnostic of a muscular weakness.

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Research Home / < Back To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Leer en español What Is Iron-deficiency anemia ... cases, surgery may be advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If your iron-deficiency anemia is ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia What Is Iron-deficiency anemia is a common, ... all types of anemia . Signs and Symptoms of Anemia The most common symptom of all types of ...

  20. Vitamin Deficiency Anemia

    Science.gov (United States)

    ... cancer can interfere with the metabolism of folate. Vitamin B-12 deficiency anemia risk factors include: Lack ... vitamin B-12 deficiency anemia called pernicious anemia. Vitamin C deficiency anemia risk factors include: Smoking. Smoking ...

  1. Vitamin Deficiency Anemia

    Science.gov (United States)

    ... are unique to specific vitamin deficiencies. Folate-deficiency anemia risk factors include: Undergoing hemodialysis for kidney failure. ... the metabolism of folate. Vitamin B-12 deficiency anemia risk factors include: Lack of intrinsic factor. Most ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Deficiency Anemia Explore Iron-Deficiency Anemia What Is... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS ... less hemoglobin than normal. Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, and ...

  3. Relationship between atypical depression and social anxiety disorder.

    Science.gov (United States)

    Koyuncu, Ahmet; Ertekin, Erhan; Ertekin, Banu Aslantaş; Binbay, Zerrin; Yüksel, Cağrı; Deveci, Erdem; Tükel, Raşit

    2015-01-30

    In this study, we aimed to investigate the effects of atypical and non-atypical depression comorbidity on the clinical characteristics and course of social anxiety disorder (SAD). A total of 247 patients with SAD were enrolled: 145 patients with a current depressive episode (unipolar or bipolar) with atypical features, 43 patients with a current depressive episode with non-atypical features and 25 patients without a lifetime history of depressive episodes were compared regarding sociodemographic and clinical features, comorbidity rates, and severity of SAD, depression and functional impairment. Thirty four patients with a past but not current history of major depressive episodes were excluded from the comparisons. 77.1% of current depressive episodes were associated with atypical features. Age at onset of SAD and age at initial major depressive episode were lower in the group with atypical depression than in the group with non-atypical depression. History of suicide attempts and bipolar disorder comorbidity was more common in the atypical depression group as well. Atypical depression group has higher SAD and depression severity and lower functionality than group with non-atypical depression. Our results indicate that the presence of atypical depression is associated with more severe symptoms and more impairment in functioning in patients with SAD. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  4. The Development of Atypical Hemolytic Uremic Syndrome Depends on Complement C5

    Science.gov (United States)

    de Jorge, Elena Goicoechea; Macor, Paolo; Paixão-Cavalcante, Danielle; Rose, Kirsten L.; Tedesco, Franco; Cook, H. Terence; Botto, Marina

    2011-01-01

    Gene variants in the alternative pathway of the complement system strongly associate with atypical hemolytic uremic syndrome (aHUS), presumably by predisposing to increased complement activation within the kidney. Complement factor H (CFH) is the major regulator of complement activation through the alternative pathway. Factor H-deficient mice transgenically expressing a mutant CFH protein (Cfh−/−.FHΔ16–20) that functionally mimics the CFH mutations reported in aHUS patients spontaneously develop thrombotic microangiopathy. To investigate the role of complement C5 activation in this aHUS model, we generated C5-deficient Cfh−/−.FHΔ16–20 mice. Both C5-sufficient and C5-deficient Cfh−/−.FHΔ16–20 mice had abnormal C3 deposition within the kidney, but spontaneous aHUS did not develop in any of the C5-deficient mice. Furthermore, although Cfh−/−.FHΔ16–20 animals demonstrated marked hypersensitivity to experimentally triggered renal injury, animals with concomitant C5 deficiency did not. These data demonstrate a critical role for C5 activation in both spontaneous aHUS and experimentally triggered renal injury in animals with defective complement factor H function. This study provides a rationale to investigate therapeutic inhibition of C5 in human aHUS. PMID:21148255

  5. 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.)

  6. Typical and Atypical Manifestations of Intrathoracic Sarcoidosis

    Energy Technology Data Exchange (ETDEWEB)

    Park, Hyun Jin; Jung, Jung Im; Chung, Myung Hee; Song, Sun Wha; Kim, Hyo Lim; Baik, Jun Hyun; Han, Dae Hee [St. Vincent' s Hospital, The Catholic University of Korea, Suwon (Korea, Republic of); Kim, Ki Jun [Incheon St. Mary' s Hospital, The Catholic University of Korea, Incheon (Korea, Republic of); Lee, Kyo Young [Seoul St. Mary' s Hospital, The Catholic University of Korea, Seoul (Korea, Republic of)

    2009-12-15

    Sarcoidosis is a systemic disorder of unknown cause that is characterized by the presence of noncaseating granulomas. The radiological findings associated with sarcoidosis have been well described. The findings include symmetric, bilateral hilar and paratracheal lymphadenopathy, with or without concomitant parenchymal abnormalities (multiple small nodules in a peribronchovascular distribution along with irregular thickening of the interstitium). However, in 25% to 30% of cases, the radiological findings are atypical and unfamiliar to most radiologists, which cause difficulty for making a correct diagnosis. Many atypical forms of intrathoracic sarcoidosis have been described sporadically. We have collected cases with unusual radiological findings associated with pulmonary sarcoidosis (unilateral or asymmetric lymphadenopathy, necrosis or cavitation, large opacity, ground glass opacity, an airway abnormality and pleural involvement) and describe the typical forms of the disorder as well. The understanding of a wide range of the radiological manifestations of sarcoidosis will be very helpful for making a proper diagnosis.

  7. Herpes zoster - typical and atypical presentations.

    Science.gov (United States)

    Dayan, Roy Rafael; Peleg, Roni

    2017-08-01

    Varicella- zoster virus infection is an intriguing medical entity that involves many medical specialties including infectious diseases, immunology, dermatology, and neurology. It can affect patients from early childhood to old age. Its treatment requires expertise in pain management and psychological support. While varicella is caused by acute viremia, herpes zoster occurs after the dormant viral infection, involving the cranial nerve or sensory root ganglia, is re-activated and spreads orthodromically from the ganglion, via the sensory nerve root, to the innervated target tissue (skin, cornea, auditory canal, etc.). Typically, a single dermatome is involved, although two or three adjacent dermatomes may be affected. The lesions usually do not cross the midline. Herpes zoster can also present with unique or atypical clinical manifestations, such as glioma, zoster sine herpete and bilateral herpes zoster, which can be a challenging diagnosis even for experienced physicians. We discuss the epidemiology, pathophysiology, diagnosis and management of Herpes Zoster, typical and atypical presentations.

  8. Alternative complement pathway assessment in patients with atypical HUS.

    Science.gov (United States)

    Roumenina, Lubka T; Loirat, Chantal; Dragon-Durey, Marie-Agnes; Halbwachs-Mecarelli, Lise; Sautes-Fridman, Catherine; Fremeaux-Bacchi, Veronique

    2011-02-28

    The atypical Hemolytic Uremic Syndrome (aHUS) is a rare thrombotic microangiopathy leading to end stage renal disease in approximately 60% of patients. Over the last decade, a clear link has been demonstrated between this disease and defective complement regulation. The hallmark of the aHUS is the association with mutations in complement alternative pathway genes. Endothelial damage is related to complement dysregulation, but the exact mechanism is just starting to be elucidated. Screening for and characterization of mutations in the components of the C3 convertase (C3 and FB) or its regulators (FH, FI, MCP, and Thrombomodulin) or anti-FH antibodies has become an indispensable part of the disease's diagnostic. This review will initially summarize current knowledge on the understanding of complement activation and regulation, followed by a description on the genetic analysis as well as the methods used for complement protein quantification. Another part of this review will focus on the mechanisms of action of aHUS-associated mutations. We will emphasize on when and why some mutations lead to protein deficiency, while others result in - to dysfunctional but normally expressed proteins. Finally, we will discuss how the therapy of aHUS patients can be modified according to the functional consequences of each particular genetic defect. Copyright © 2011 Elsevier B.V. All rights reserved.

  9. 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.)

  10. Congenital left atrial appendage aneurysm: Atypical presentation

    Directory of Open Access Journals (Sweden)

    Mehdi Bamous

    2017-01-01

    Full Text Available Congenital left atrial appendage aneurysm is a rare condition caused by dysplasia of the atrial muscles. We report a case of a 14-year-old boy, with a 5-month history of cough and in sinus rhythm. Transthoracic echocardiography and computerized tomographic angiography confirmed the aneurysm of the left atrial appendage which was resected through median sternotomy on cardiopulmonary bypass. This case is presented not only for its rarity but also for its atypical clinical presentation.

  11. Recurrent atypical fibroxanthoma of the cheek.

    Science.gov (United States)

    Skoulas, I G; Price, M; Andrew, J E; Kountakis, S E

    2001-01-01

    We report a case of recurrent atypical fibroxanthoma (AFX) of the preauricular area that recurred after Mohs micrographic surgery. AFX is a benign cutaneous fibrohistiocytic tumor that is most commonly found in elderly patients. Although these tumors are benign, they may mimic spindle cell carcinoma, squamous cell carcinoma, and melanoma on histologic examination. AFX tumors rarely recur or metastasize. Wide excision is recommended for the achievement of the best results.

  12. Atypical Localized Rheumatoid Nodule: Case Report

    Directory of Open Access Journals (Sweden)

    KORHAN BARIS BAYRAM

    2015-01-01

    Full Text Available Rheumatoid nodules can be seen in about 30% of patiens with rheumatoid arthritis. They are occasionally localized subcutaneous, but they can rarely seen in visceral organs. Their appearance can be confused with many clinical conditions when they have atypical localizations. To exclude the presence of a malignancy, these lesions should always be investigated. We aimed to discuss a patient with rheumatoid nodule localized in close neighborhood of hyoid bone, presumed as malignancy.

  13. 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.)

  14. Atypical human infections by animal trypanosomes.

    Directory of Open Access Journals (Sweden)

    Philippe Truc

    Full Text Available The two classical forms of human trypanosomoses are sleeping sickness due to Trypanosoma brucei gambiense or T. brucei rhodesiense, and Chagas disease due to T. cruzi. However, a number of atypical human infections caused by other T. species (or sub-species have been reported, namely due to T. brucei brucei, T. vivax, T. congolense, T. evansi, T. lewisi, and T. lewisi-like. These cases are reviewed here. Some infections were transient in nature, while others required treatments that were successful in most cases, although two cases were fatal. A recent case of infection due to T. evansi was related to a lack of apolipoprotein L-I, but T. lewisi infections were not related to immunosuppression or specific human genetic profiles. Out of 19 patients, eight were confirmed between 1974 and 2010, thanks to improved molecular techniques. However, the number of cases of atypical human trypanosomoses might be underestimated. Thus, improvement, evaluation of new diagnostic tests, and field investigations are required for detection and confirmation of these atypical cases.

  15. Atypical pharmacologies at β-adrenoceptors

    Science.gov (United States)

    Summers, R J

    2008-01-01

    β-Adrenoceptors are one of the most widely studied groups of G-protein-coupled receptors but continue to provide surprises and insights that have general relevance to pharmacology. Atypical pharmacologies have been described for ligands formerly (and still) described as antagonists acting at β1-, β2- and β3-adrenoceptors that involve ligand-directed signalling and possibly allosteric interactions at the receptors. In the article by Ngala et al., in this issue of the Br J Pharmacol, another example of atypical interactions with β-adrenoceptors is described, this time for agonists. Some of the responses to BRL37344 and clenbuterol can be explained in terms of actions at β2-adrenoceptors, whereas others such as the increased glucose uptake and palmitate oxidation observed with pM concentrations of BRL37344 may involve interactions with other (possibly allosteric) sites. Atypical pharmacologies of ligands acting at β-adrenoceptors have already indicated new ways in which ligands can interact with G-protein-coupled receptors and these mechanisms are likely to have important consequences for future drug development. PMID:18641673

  16. Atypical caudate anatomy in children who stutter.

    Science.gov (United States)

    Foundas, Anne L; Mock, Jeffrey R; Cindass, Renford; Corey, Dave M

    2013-04-01

    A temporal motor defect in speech preparation and/or planning may contribute to the development of stuttering. This defect may be linked to a dysfunctional cortical-subcortical network at the level of the striatum. To determine whether structural differences exist and whether group differences are associated with stuttering severity or manual laterality, the caudate was measured in 14 children who stutter (CWS) and in a control group of right-handed boys, ages 8-13 years. There was a statistically significant hemisphere by group effect for caudate volume. CWS had reduced right caudate volume and atypical leftward asymmetry compared to controls. Nine of the 13 CWS with atypical caudate asymmetry had atypical manual laterality. These anomalies may represent a vulnerability that perturbs speech planning/preparation and contributes to inefficiencies in action-perception coupling that may be an indicator of stuttering susceptibility. These results suggest that right-handed boys who stutter may have a defect in the feedforward cortico-striato-thalamo-cortical networks.

  17. Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Child

    Directory of Open Access Journals (Sweden)

    aida borgi

    2013-06-01

    Full Text Available Background: Congenital deficiency of ADAMTS13 is characterized by systemic platelet clumping, hemolytic anemia and multiorgan failure. Although, more than 100 mutations have been reported, atypical clinical presentation may be involved in diagnostic difficulties. Case report: A 2 year old Tunisian child presented with chronic thrombopenic purpura which failed to respond to corticosteroids. Hemolytic anemia with schizocytes, occurred ten months later, with no previous history of diarrhea or any neurological abnormality.  Renal function, coagulation screening tests and complement assay were normal. The count of platelet improved after fresh frozen infusion (FFP. Extensive investigations revealed a severe deficiency of ADAMTS 13 activity (level< 5%. Gene sequencing identified mutation in exon 18 of ADAMTS 13 gene. Prophylactic regimen with regular infusions of FFP was associated to favorable outcome. Conclusion: Early ADAMTS 13 activity testing and gene sequencing associated to precocious plasmatherapy are crucial to reduce morbidity and mortality of congenital TTP.

  18. PREPL deficiency: delineation of the phenotype and development of a functional blood assay.

    Science.gov (United States)

    Régal, Luc; Mårtensson, Emma; Maystadt, Isabelle; Voermans, Nicol; Lederer, Damien; Burlina, Alberto; Juan Fita, María Jesús; Hoogeboom, A Jeannette M; Olsson Engman, Mia; Hollemans, Tess; Schouten, Meyke; Meulemans, Sandra; Jonson, Tord; François, Inge; Gil Ortega, David; Kamsteeg, Erik-Jan; Creemers, John W M

    2017-07-20

    PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis. Therefore, we developed a PREPL blood assay and further delineated the phenotype.MethodsClinical features of new subjects with PREPL deficiency were recorded. The presence of PREPL in lymphocytes and its reactivity with an activity-based probe were evaluated by western blot.ResultsFive subjects with isolated PREPL deficiency, three with hypotonia-cystinuria syndrome, and two with atypical hypotonia-cystinuria syndrome had nine novel alleles. Their IQs ranged from 64 to 112. Adult neuromuscular signs included ptosis, nasal dysarthria, facial weakness, and variable proximal and neck flexor weakness. Autonomic features are prevalent. PREPL protein and reactivity were absent in lymphocytes from subjects with PREPL deficiency, but normal in the clinically similar Prader-Willi syndrome.ConclusionPREPL deficiency causes neuromuscular, autonomic, cognitive, endocrine, and dysmorphic clinical features. PREPL is not deficient in Prader-Willi syndrome. The novel blood test should facilitate the confirmation of PREPL deficiency.GENETICS in MEDICINE advance online publication, 20 July 2017; doi:10.1038/gim.2017.74.

  19. 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

  20. Atypical depression and non-atypical depression: Is HPA axis function a biomarker? A systematic review.

    Science.gov (United States)

    Juruena, Mario F; Bocharova, Mariia; Agustini, Bruno; Young, Allan H

    2017-10-06

    The link between the abnormalities of the Hypothalamic-pituitary-adrenal (HPA) axis and depression has been one of the most consistently reported findings in psychiatry. At the same time, multiple studies have demonstrated a stronger association between the increased activation of HPA-axis and melancholic, or endogenous depression subtype. This association has not been confirmed for the atypical subtype, and some researchers have suggested that as an antinomic depressive subtype, it may be associated with the opposite type, i.e. hypo-function, of the HPA-axis, similarly to PTSD. The purpose of this systematic review is to summarise existing studies addressing the abnormalities of the HPA-axis in melancholic and/or atypical depression. We conducted a systematic review in the literature by searching MEDLINE, PsycINFO, OvidSP and Embase databases until June 2017. The following search items were used: "hypothalamic-pituitary-adrenal" OR "HPA" OR "cortisol" OR "corticotropin releasing hormone" OR "corticotropin releasing factor" OR "glucocorticoid*" OR "adrenocorticotropic hormone" OR "ACTH" AND "atypical depression" OR "non-atypical depression" OR "melancholic depression" OR "non-melancholic depression" OR "endogenous depression" OR "endogenomorphic depression" OR "non-endogenous depression". Search limits were set to include papers in English or German language published in peer-reviewed journals at any period. All studies were scrutinized to determine the main methodological characteristics, and particularly possible sources of bias influencing the results reported. We selected 48 relevant studies. Detailed analysis of the methodologies used in the studies revealed significant variability especially regarding the samples' definition comparing the HPA axis activity of melancholic patients to atypical depression, including healthy controls. The results were subdivided into 4 sections: (1) 27 studies which compared melancholic OR endogenous depression vs. non

  1. Association among Complement Factor H Autoantibodies, Deletions of CFHR, and the Risk of Atypical Hemolytic Uremic Syndrome.

    Science.gov (United States)

    Jiang, Hong; Fan, Meng-Nan; Yang, Min; Lu, Chao; Zhang, Ming; Liu, Xiao-Hong; Ma, Le

    2016-12-05

    To evaluate the association among complement factor H-related (CFHRs) gene deficiency, complement factor H (CFH) autoantibodies, and atypical hemolytic uremic syndrome (aHUS) susceptibility. EMBASE, PubMed, and the ISI Web of Science databases were searched for all eligible studies on the relationship among CFHRs deficiency, anti-FH autoantibodies, and aHUS risk. Eight case-control studies with 927 cases and 1182 controls were included in this study. CFHR1 deficiency was significantly associated with an increased risk of aHUS (odds ratio (OR) = 3.61, 95% confidence interval (95% CI), 1.96, 6.63, p < 0.001), while no association was demonstrated in individuals with only CFHR1/R3 deficiency (OR = 1.32, 95% CI, 0.50, 3.50, p = 0.56). Moreover, a more significant correlation was observed in people with both FH-anti autoantibodies and CFHR1 deficiency (OR = 11.75, 95% CI, 4.53, 30.44, p < 0.001) in contrast to those with only CFHR1 deficiency. In addition, the results were essentially consistent among subgroups stratified by study quality, ethnicity, and gene detection methods. The present meta-analysis indicated that CFHR1 deletion was significantly associated with the risk of aHUS, particularly when combined with anti-FH autoantibodies, indicating that potential interactions among CFHR1 deficiency and anti-FH autoantibodies might impact the risk of aHUS.

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

    OpenAIRE

    Arumugam, Sendhil Coumary; 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 hae...

  3. 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.)

  4. Atypical Mg-poor Milky Way Field Stars with Globular Cluster Second-generation-like Chemical Patterns

    Energy Technology Data Exchange (ETDEWEB)

    Fernández-Trincado, J. G.; Geisler, D.; Tang, B.; Villanova, S.; Mennickent, R. E. [Departamento de Astronomía, Universidad de Concepción, Casilla 160-C, Concepción (Chile); Zamora, O.; García-Hernández, D. A.; Dell’Agli, F.; Prieto, Carlos Allende [Instituto de Astrofísica de Canarias, E-38205 La Laguna, Tenerife (Spain); Souto, Diogo; Cunha, Katia [Observatório Nacional, Rua Gal. José Cristino 77, Rio de Janeiro, RJ—20921-400 (Brazil); Schiavon, R. P. [Astrophysics Research Institute, Liverpool John Moores University, 146 Brownlow Hill, Liverpool L3 5RF (United Kingdom); Hasselquist, Sten [New Mexico State University, Las Cruces, NM 88003 (United States); Shetrone, M. [University of Texas at Austin, McDonald Observatory, Fort Davis, TX 79734 (United States); Vieira, K. [Centro de Investigaciones de Astronomía, AP 264, Mérida 5101-A (Venezuela, Bolivarian Republic of); Zasowski, G. [Space Telescope Science Institute, 3700 San Martin Drive, Baltimore, MD 21218 (United States); Sobeck, J.; Hayes, C. R.; Majewski, S. R. [Department of Astronomy, University of Virginia, Charlottesville, VA 22903 (United States); Placco, V. M., E-mail: jfernandezt@astro-udec.cl, E-mail: jfernandezt87@gmail.com [Department of Physics and JINA Center for the Evolution of the Elements, University of Notre Dame, Notre Dame, IN 46556 (United States); and others

    2017-09-01

    We report the peculiar chemical abundance patterns of 11 atypical Milky Way (MW) field red giant stars observed by the Apache Point Observatory Galactic Evolution Experiment (APOGEE). These atypical giants exhibit strong Al and N enhancements accompanied by C and Mg depletions, strikingly similar to those observed in the so-called second-generation (SG) stars of globular clusters (GCs). Remarkably, we find low Mg abundances ([Mg/Fe] < 0.0) together with strong Al and N overabundances in the majority (5/7) of the metal-rich ([Fe/H] ≳ −1.0) sample stars, which is at odds with actual observations of SG stars in Galactic GCs of similar metallicities. This chemical pattern is unique and unprecedented among MW stars, posing urgent questions about its origin. These atypical stars could be former SG stars of dissolved GCs formed with intrinsically lower abundances of Mg and enriched Al (subsequently self-polluted by massive AGB stars) or the result of exotic binary systems. We speculate that the stars Mg-deficiency as well as the orbital properties suggest that they could have an extragalactic origin. This discovery should guide future dedicated spectroscopic searches of atypical stellar chemical patterns in our Galaxy, a fundamental step forward to understanding the Galactic formation and evolution.

  5. Cost-effectiveness of an atypical conventional antipsychotic in South ...

    African Journals Online (AJOL)

    Cost-effectiveness of an atypical conventional antipsychotic in South Africa: An economic evaluation of quetiapine versus haloperidol in the treatment of patients partially responsive to previous antipsychotics.

  6. Viral pneumonias: Typical and atypical findings

    Energy Technology Data Exchange (ETDEWEB)

    Westhoff-Bleck, M.; Bleck, J.S.; Schirg, E.

    1987-10-01

    The clinical and radiological features of viral pneumonias are summarized and discussed. Although viral infections of the lung belong to atypical pneumonias they demonstrate not always the radiographic pattern of an interstitial pneumonia. Characteristic radiographic findings are quite rare. In most cases the microbial etiology cannot be predicted from chest radiographs. The appearance varies depending on the virulence of the organism and the resistence of the host. In this regard knowledge of epidemiological data as well as patients condition and underlying disease is of utmost importance. Differentiation between community- and hospital-acquired infection may be very helpful.

  7. 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.

  8. 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.

  9. Bisphosphonates and Atypical Fractures of Femur

    Directory of Open Access Journals (Sweden)

    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.

  10. 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.)

  11. Atypical odontalgia--a diagnostic dilemma.

    Science.gov (United States)

    Thorburn, D N; Polonowita, A D

    2012-06-01

    Atypical odontalgia (AO) is a chronic orofacial pain condition of unclear pathophysiology, often presenting as toothache or pain at an extraction site. Idiopathic, psychogenic, vascular, and neuropathic causes have been proposed. In view of demonstrable somatosensory changes, and responses to management proposed for other forms of neuropathic pain, the best current evidence supports a neuropathic hypothesis. It is proposed that certain individuals with as-yet-undefined genetic vulnerability can develop AO when exposed to certain risk factors, including invasive dental treatment. The diagnosis and treatment of AO can be challenging, but can be aided by a multidisciplinary approach. Two cases of differing complexity are presented in this paper.

  12. [Persistent idiopathic facial pain and atypical odontalgia].

    Science.gov (United States)

    Gaul, Charly; Ettlin, Dominik; Pfau, Doreen B

    2013-01-01

    The terms 'persistent idiopathic facial pain' (PIFP) and 'atypical odontalgia' (AO) are currently used as exclusion diagnoses for chronic toothache and chronic facial pain. Knowledge about these pain conditions in medical and dental practices is of crucial importance for the prevention of iatrogenic tissue damage by not-indicated invasive interventions, such as endodontic treatment and tooth extraction. In the present paper, etiology and pathogenesis, differential diagnostic criteria, and diagnostic approaches will be explained and relevant therapeutic principles will be outlined. Copyright © 2013. Published by Elsevier GmbH.

  13. Treatment of atypically-localized cavernous hemangioma in abdomen with atypical pain

    Directory of Open Access Journals (Sweden)

    Mehmet Ilhan

    2016-01-01

    Conclusion: Cavernous hemangiomas of the liver rarely require treatment. Surgery is one of the options in selected cases and abdominal pain is one of the indications. In patients complaining from persistent abdominal pain, if intraabdominal atypical-localized mass was seen in examinations, hemangioma should be remembered in differential diagnosis.

  14. Pontine Infarct Presenting with Atypical Dental Pain: A Case Report.

    Science.gov (United States)

    Goel, Rajat; Kumar, Sanjeev; Panwar, Ajay; Singh, Abhishek B

    2015-01-01

    Orofacial pain' most commonly occurs due to dental causes like caries, gingivitis or periodontitis. Other common causes of 'orofacial pain' are sinusitis, temporomandibular joint(TMJ) dysfunction, otitis externa, tension headache and migraine. In some patients, the etiology of 'orofacial pain' remains undetected despite optimal evaluation. A few patients in the practice of clinical dentistry presents with dental pain without any identifiable dental etiology. Such patients are classified under the category of 'atypical odontalgia'. 'Atypical odontalgia' is reported to be prevalent in 2.1% of the individuals. 'Atypical orofacial pain' and 'atypical odontalgia' can result from the neurological diseases like multiple sclerosis, trigeminal neuralgia and herpes infection. Trigeminal neuralgia has been frequently documented as a cause of 'atypical orofacial pain' and 'atypical odontalgia'. There are a few isolated case reports of acute pontine stroke resulting in 'atypical orofacial pain' and 'atypical odontalgia'. However, pontine stroke as a cause of atypical odontalgia is limited to only a few cases, hence prevalence is not established. This case is one, where a patient presented with acute onset atypical dental pain with no identifiable dental etiology, further diagnosed as an acute pontine infarct on neuroimaging. A 40 years old male presented with acute onset, diffuse teeth pain on right side. Dental examination was normal. Magnetic resonance imaging(MRI) of the brain had an acute infarct in right pons near the trigeminal root entry zone(REZ). Pontine infarct presenting with dental pain as a manifestation of trigeminal neuropathy, has rarely been reported previously. This stresses on the importance of neuroradiology in evaluation of atypical cases of dental pain.

  15. Neuromyelitis optica: atypical clinical and neuroradiological presentation.

    Science.gov (United States)

    Splendiani, Alessandra; Mariani, Silvia; Anselmi, Monica; Catalucci, Alessia; Di Cesare, Ernesto; Gallucci, Massimo

    2015-02-01

    The extreme variability of clinical and MRI findings in the suspicion of Devic's disease always requires the detection of specific antibodies (AQP4). MRI scans were performed with a high-field MRI scanner (1.5T General Electric Signa Horizon): the MRI protocol of the brain employed axial DP, T2, T1, FLAIR and DWI weighted images (wi) and coronal T2-wi. After intravenous administration of contrast medium axial and sagittal T1-weighted images of the brain were repeated. The spine protocol employed after contrast medium included sagittal T2-wi, T2-wi with fat suppression and T1-wi. In May 2004, a 64-year-old healthy Caucasian woman began to suffer loss of motor and thermal sensitivity in the left lower limb. MRI showed non-specific areas of abnormal signal intensity on the deep left frontal and right frontoparietal white matter with no pathological enhancement after contrast medium and a small intramedullary area of altered signal at metameric level C2-C4 with a diagnosis of post-viral transverse myelitis. The patient had two similar episodes years later so the neurologist decided to search for circulating IgG AQP4 with the definitive diagnosis of neuromyelitis optica. In this case, compared to a clinical presentation of atypical deficit neurological involvement, the neuroradiological results of a progressive diffuse involvement of the white matter were atypical. © The Author(s) 2015 Reprints and permissions:sagepub.co.uk/journalsPermissions.nav.

  16. [Treatment with bisphosphonates and atypical fractures].

    Science.gov (United States)

    Spivacow, Francisco R; Sarli, Marcelo; Buttazzoni, Mirena

    2009-01-01

    In the last twenty five years aminobisphosphonates have became the drugs of choice for the treatment of osteoporosis. They strongly inhibit osteoclastic bone resorption and reduce the incidence of new fractures in patients with established osteoporosis, but their long half-life and their chronic effects on bone physiology are a matter of concern. Theoretically a harmful consequence of a prolonged inhibition of bone remodeling could be the microdamage accumulation, and paradoxically the occurrence of new and atypical fractures. Until now, few cases of these unusual fractures have been reported in the international literature. All these patients shared some common characteristics, apart from the chronic use of bisphosphonates for the treatment of osteoporosis. The more frequent is the atypical location of the fractures. Since the majority happened in one or both femoral shafts, others bones such as sacrum, ischium, ribs and pubic rami could be affected. The fractures were atraumatic or caused by minimal trauma and, in some cases, it was preceded by a prodromal pain in the affected area. All cases had biochemical or histomorphometric evidence of low bone turnover. The aim of this paper is to report three new cases of patients that fulfill with the diagnostic criteria of this new entity, two of them with femoral shaft fractures and the remainder with a pelvis one.

  17. [Atypical odontalgia - a little known phantom pain].

    Science.gov (United States)

    Türp, J C

    2001-02-01

    Atypical odontalgia (AO) was described in the dental literature more than 200 years ago, and it is included in most taxonomies and textbooks of pain. Nonetheless, it remains one of the most frequently misdiagnosed intraoral pain conditions. Due to similarities with phantom pain, AO is also referred to as "phantom tooth pain". AO is characterized by persistent throbbing pain in or around a former or present permanent tooth (preferably molars and premolars). Clinical and radiographic examination, however, does not reveal any organic cause of the pain. The complaints associated with AO usually begin after deafferentiation of primary afferent trigeminal nerve fibers, e. g., after pulp extirpation, apicectomy, or extraction of a tooth. AO is a diagnosis by exclusion. Patients and dentists must be aware of the fact that the therapeutic options are limited. AO is primarily managed with topically or systemically administered pharmacological agents. Unnecessary and harmful procedures around teeth and jaws must be avoided by all means. A concept was recently proposed which aims to unify a group of four types of orofacial pain under the term "idiopathic orofacial pain" (Woda & Pionchon 1999, 2000). These pain conditions - AO, atypical facial pain, burning mouth syndrome ("stomatodynia"), and subgroups of temporomandibular disorders ("idiopathic facial arthromyalgia") - are characterized by unknown etiology, but common clinical characteristics. It is to be hoped that the suggested classification will stimulate reflection on these enigmatic orofacial pain disorders.

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... less hemoglobin than normal. Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, and ... iron-deficiency anemia. Treatment will depend on the cause and severity of the condition. Treatments may include ...

  19. Iron-Deficiency Anemia

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    Full Text Available ... food. Overview Iron-deficiency anemia is a common type of anemia . The term "anemia" usually refers to ... also may lead to iron-deficiency anemia. This type of blood loss isn't always obvious, and ...

  20. Iron-Deficiency Anemia

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    Full Text Available ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ... of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... condition. Women Women of childbearing age are at higher risk for iron-deficiency anemia because of blood ... iron-deficiency anemia. Pregnant women also are at higher risk for the condition because they need twice ...

  2. Iron-Deficiency Anemia

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    Full Text Available ... help prevent overdosing in children. Because recent research supports concerns that iron deficiency during infancy and childhood ... treat iron-deficiency anemia. These doctors include pediatricians, family doctors, gynecologists/obstetricians, and internal medicine specialists. A ...

  3. Iron-Deficiency Anemia

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    Full Text Available ... more information about diet and supplements, go to "How Is Iron-Deficiency Anemia Treated?" Infants and young ... who should be screened for iron deficiency, and how often: Girls aged 12 to 18 and women ...

  4. Iron-Deficiency Anemia

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    Full Text Available ... and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and ... Internal bleeding (bleeding inside the body) also may lead to iron-deficiency anemia. This type of blood ...

  5. Iron-Deficiency Anemia

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    Full Text Available ... have iron-deficiency anemia, you'll have a high level of transferrin that has no iron. Other ... may include dietary changes and supplements, medicines, and surgery. Severe iron-deficiency anemia may require a blood ...

  6. Iron-Deficiency Anemia

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    Full Text Available ... deficiency anemia if they're underweight or have chronic (ongoing) illnesses. Teenage girls who have heavy periods ... factors for iron-deficiency anemia The Centers for Disease Control and Prevention (CDC) has developed guidelines for ...

  7. Iron-Deficiency Anemia

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    Full Text Available ... deficiency anemia apply to all types of anemia . Signs and Symptoms of Anemia The most common symptom ... appetite, slowed growth and development, and behavioral problems. Signs and Symptoms of Iron Deficiency Signs and symptoms ...

  8. Iron-Deficiency Anemia

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    Full Text Available ... also may help treat iron-deficiency anemia. Medical History Your doctor will ask about your signs and ... much of the transferrin in your blood isn't carrying iron. If you have iron-deficiency anemia, ...

  9. Iron-Deficiency Anemia

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    Full Text Available ... coped with having iron-deficiency anemia. Prior to her diagnosis, Susan had symptoms such as tiredness, poor skin tone, dizziness, and depression. After her doctor diagnosed her with iron-deficiency anemia, Susan ...

  10. Iron-Deficiency Anemia

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    Full Text Available ... drawings also can cause iron-deficiency anemia. Poor Diet The best sources of iron are meat, poultry, ... more likely to develop iron-deficiency anemia. Vegetarian diets can provide enough iron if you eat the ...

  11. Iron-Deficiency Anemia

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    Full Text Available ... Deficiency Anemia What Is... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS PREVENTION LIVING WITH CLINICAL ... and women are the two groups at highest risk for iron-deficiency anemia. Outlook Doctors usually can ...

  12. Iron-Deficiency Anemia

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    Full Text Available ... iron-deficiency anemia may require treatment in a hospital, blood transfusions , iron injections, or intravenous iron therapy. ... Treatment may need to be done in a hospital. The goals of treating iron-deficiency anemia are ...

  13. Dietary Deficiency of Cobalamin Presented Solely as Schizoaffective Disorder in a Lacto-Vegetarian Adolescent.

    Science.gov (United States)

    Dhananjaya, Somashekarappa; Manjunatha, Narayana; Manjunatha, Rajashekaaiah; Kumar, Seetharamarao Udaya

    2015-01-01

    Cobalamin is an important nutrient. It is not synthesized in human body and supplied only in nonvegetarian diet. Its deficiency reported with range of psychiatric disorders. Only four pediatric cases have been reported as psychiatric disorders. Authors report a case of dietary deficiency of cobalamin presenting solely as schizoaffective disorder without hematological/neurological manifestations. Early diagnosis and treatment of cobalamin deficiency is an opportunity to reverse pathophysiology. This case highlights the importance of diet history and serum cobalamin level in atypical psychiatric presentations.

  14. CASE REPORT CASE Atypical tuberculosis of the knee joint CASE ...

    African Journals Online (AJOL)

    This case report demonstrates the MRI findings of atypical tuberculosis. (TB) of the knee joint, caused by Mycobacterium kansasii. Osteoarticular. TB caused by atypical mycobacteria is rare; instead, it is predomi- nantly a synovial disease affecting the tendon sheaths rather than bone. Predisposing factors are ...

  15. 'Atypical' bacteria are a common cause of community-acquired ...

    African Journals Online (AJOL)

    Objectives. To assess the proportion of cases of community· acquired pneumonia caused by 'atypical' bacteria, inclUding the recently discovered Chlamydia pneumoniae, and to compare the clinical, radiographic and laboratory features of patients with and without 'atypical' bacteria. Methods. A prospective serological ...

  16. Comparing the side effect profile of the Atypical Antipsychotics | Alao ...

    African Journals Online (AJOL)

    Post clozapine, the Food and Drug Administration (FDA) has approved the use of four newer atypical antipsychotics; risperidone, olanzapine, quetiapine and ziprasidone for the treatment of schizophrenia. Because of their dual serotonin and dopamine receptor blocking abilities, atypical antipsychotics have greater efficacy ...

  17. An atypical presentation of myositis ossificans | Bultheel | South ...

    African Journals Online (AJOL)

    An atypical presentation of myositis ossificans. M Bultheel, JH Kirby, JT Viljoen, PL Viviers. Abstract. In the following case study an atypical presentation of myositis ossificans (MO) in the superior anterolateral thigh of a young soccer player is discussed. This case demonstrates that MO can present without obvious history of ...

  18. 'Atypical' bacteria are a common cause of community-acquired ...

    African Journals Online (AJOL)

    The two most common organisms were C. pneumoniae (20,7%) and L. pneumophila (8,7%). There. were no differences in the clinical and radiographic features of patients with and without 'atypical' bacteria. Clinicians prescribed erythromycin or tetracyclines with equal frequency in the two groups. Conclusions. 'Atypical' ...

  19. CPD: Atypical pathogens and challenges in community-acquired ...

    African Journals Online (AJOL)

    Atypical organisms such as Mycoplasma pneumoniae, Chlamydia pneumoniae, and Legionella pneumophila are implicated in up to 40 percent of cases of community-acquired pneumonia. Antibiotic treatment is empiric and includes coverage for both typical and atypical organisms. Doxycycline, a fluoroquinolone with ...

  20. Iron-Deficiency Anemia

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    Full Text Available ... To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Leer en español What Is Iron-deficiency anemia ... all types of anemia . Signs and Symptoms of Anemia The most common symptom of all types of ...

  1. Iron-Deficiency Anemia

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    Full Text Available ... page from the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a ... Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented ...

  2. Iron-Deficiency Anemia

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    Full Text Available ... Tumblr. Share this page from the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency ... Iron-Deficiency Anemia article. Updated: March 26, 2014 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT ...

  3. Iron-Deficiency Anemia

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    Full Text Available ... the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily ... Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia, especially if they have: A history of iron-deficiency anemia Heavy blood loss during their monthly periods Other risk factors for iron-deficiency anemia The Centers for Disease Control and Prevention (CDC) has developed guidelines for who ...

  5. Atypical Red Blood Cells Are Prevalent in California Sea Lion Pups Born during Anomalous Sea Surface Temperature Events.

    Science.gov (United States)

    Flores-Morán, Adriana; Banuet-Martínez, Marina; Elorriaga-Verplancken, Fernando R; García-Ortuño, Luis Enrique; Sandoval-Sierra, Julieta; Acevedo-Whitehouse, Karina

    To date, there is limited knowledge of the effects that abnormal sea surface temperature (SST) can have on the physiology of neonate pinnipeds. However, maternal nutritional deficiencies driven by alimentary restrictions would expectedly impact pinniped development and fitness, as an adequate supply of nutrients is essential for growth and proper functioning of all body systems, including red blood cell synthesis and clearance. Here, we investigated red blood cell morphology of California sea lion (CSL) pups from the San Benito Archipelago born during the 2014 and 2015 anomalously high SST events recorded in the northeastern Pacific Ocean. We examined whether atypical erythrocyte morphologies were more common in 2015, when the high SST event was more pronounced, and whether the stable isotope signature of pup fur, as an indicator of maternal feeding strategies, accounted for the number of atypical cells. Various atypical erythrocyte morphologies were more prevalent and more abundant than reference values. Evidence of iron deficiency was found in both years, and only pups born in 2014 showed evidence of active erythropoiesis. Microcytes and reticulocytes were more common in pups with higher isotopic δ(13)C and lower δ(15)N values, suggesting a probable relationship between maternal feeding strategies and the effect of climatic anomalies on red blood cell physiology of their pups. As developing pinnipeds require increased oxygen storage capacity for diving and foraging, the presence of atypical erythrocytes could be relevant to CSL pup fitness if the underlying cause is not reverted. This study is a first step to explore the effects that climatic alterations in the marine environment can have on the blood physiology of developing individuals.

  6. [Atypical cerebellar neurocytoma resembling a hemangioblastoma. A case report].

    Science.gov (United States)

    Lista Martínez, Olalla; Rivas López, Luis Alfredo; Pombo Otero, Jorge Francisco; Amaro Cendón, Santiago; Bravo García, Christian; Villa Fernández, Juan Manuel

    2014-01-01

    Through August 2013, 105 cases of intracranial extraventricular neurocytoma (EVN) had been described; 6% were located in cerebellum and 22% were atypical EVN. A rare morphologic form of neurocytoma, atypical EVN has had only 24 cases reported to date. Its prognosis is poorer than the typical central neurocytoma. This case report describes an atypical cerebellar EVN, a form that has not been reported yet, hence the interest of this article. We emphasise its cystic nature and mural nodule, in an infrequent presentation. EVN are low-incidence tumours that we need to take into consideration when making the differential diagnosis of cystic cerebellar lesions with mural nodule. Given that the prognosis of atypical EVNs depends on the atypical nature and on the grade of resection, medical follow up has to be more constant, due to the greater degree of recurrence. Copyright © 2013 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  7. Vitamin D deficiency: a paediatric orthopaedic perspective.

    Science.gov (United States)

    Clarke, Nicholas M P; Page, Jonathan E

    2012-02-01

    At the turn of the last century, rickets (vitamin D deficiency) was one of the most common musculoskeletal diseases of the paediatric population presenting to physicians. Today, the most common referral pathway for these patients ends in a paediatric orthopaedic outpatient clinic. Vitamin D deficiency is a clinical entity that can affect all children and should be looked for in all children with musculoskeletal symptoms. The child at risk of rickets is now white, breastfed, protected from the sun and obese. Vitamin D deficiency can present as atypical muscular pain, pathological fractures or slipped upper femoral epiphysis. Obesity is linked with lower vitamin D levels; however, in the paediatric population, this does not necessarily equal clinical disorder. Vitamin D supplements can be used to reduce the risk of pathological fractures in the cerebral palsy child. It should also form part of the differential diagnosis in the work-up of nonaccidental injuries. Children with a low vitamin D present with a higher incidence of fractures from normal activities. Vitamin D levels need to be assessed before any form of orthopaedic surgery, as it can affect growth, both in the diaphysis of the bone and in the growth plate. Vitamin D levels are a key element in the successful practice of paediatric orthopaedics. It is not just the possible cause of disorder presenting to the clinician but also extremely important in ensuring the successful postoperative recovery of the patient.

  8. 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.)

  9. Carnitine Deficiency and Pregnancy

    Directory of Open Access Journals (Sweden)

    Anouk de Bruyn

    2015-01-01

    Full Text Available We present two cases of carnitine deficiency in pregnancy. In our first case, systematic screening revealed L-carnitine deficiency in the first born of an asymptomatic mother. In the course of her second pregnancy, maternal carnitine levels showed a deficiency as well. In a second case, a mother known with carnitine deficiency under supplementation was followed throughout her pregnancy. Both pregnancies had an uneventful outcome. Because carnitine deficiency can have serious complications, supplementation with carnitine is advised. This supplementation should be continued throughout pregnancy according to plasma concentrations.

  10. Extensive hypertrophic lupus erythematosus: Atypical presentation

    Directory of Open Access Journals (Sweden)

    Tarun Narang

    2012-01-01

    Full Text Available Lupus erythematosus (LE is a disease with a wide spectrum of cutaneous and systemic manifestations. Clinical features of patients with LE show a great variation, and for this reason it is difficult to develop a unifying concept of this disease. Our objective is to present a case of hypertrophic LE with atypical morphology and extensive involvement, who responded favorably to isotretinoin. Diagnosis of hypertrophic lupus erythematosus (HLE was confirmed by characteristic histopathological findings. Combination therapy with isotretinoin and hydroxychloroquine resulted in flattening and repression of previously refractory skin lesions. Sometimes, HLE lesions may present a diagnostic and therapeutic dilemma. In long standing lesions, squamous cell carcinoma may arise. Therefore, HLE requires adequate therapy with clinical and histopathological follow up.

  11. 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].

  12. Atypical Bacteria and Macrolides in Asthma

    Directory of Open Access Journals (Sweden)

    Xepapadaki Paraskevi

    2008-09-01

    Full Text Available Chlamydophila pneumoniae and Mycoplasma pneumoniae are common pathogens causing acute illness in both the upper and lower airways. Several observations are supportive of a possible causative role of these pathogens in asthma; however, more evidence is required before this becomes meaningful in clinical practice. Atypical bacteria can enhance airway hyperresponsiveness and inflammation, both of which have been associated with exacerbations in patients with preexisting asthma. It is less clear whether the above mechanisms might also be responsible for the development of asthma. Difficulties in accurately diagnosing these infections contribute to such uncertainty. In the present report, evidence of the involvement of Chlamydophila and Mycoplasma infection in the development and the progression of asthma are reviewed.

  13. 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.

  14. Refractory Rheumatic Disorder: Atypical Postpregnancy Osteoporosis

    Directory of Open Access Journals (Sweden)

    Cindy Mourgues

    2015-01-01

    Full Text Available This is a case report on a young patient with severe osteoporosis that was initially revealed when she presented with polyarthralgia during her second pregnancy. Postpartum, the pain increased and her X-ray did not show any abnormalities. A bone scintigraphy was performed. It indicated an inflammatory rheumatic disorder. Six months after partum, an investigation of right coxalgia revealed a spontaneous basicervical fracture. Given the persistent polyarthralgia, the patient underwent a new scintigraphy, which revealed areas of what looked to be old rib and L1 fractures. A subsequent full body magnetic resonance imaging (MRI scan revealed signal abnormalities that could indicate multiple lower limb bone fractures. Despite exhaustive biological, radiological, and histological testing, no secondary cause for the osteoporosis was found. The patient was started on teriparatide. We finally concluded that, despite the atypical presentation, the patient was suffering from postpregnancy osteoporosis. It is possible that the frequency of occurrence of this still poorly understood disease is underestimated.

  15. MANAGEMENT OF ATYPICAL CLUBFOOT BY PONSETI METHOD

    Directory of Open Access Journals (Sweden)

    V. F. Blandinsky

    2010-01-01

    Full Text Available From May 2006 to August 2009 analyzed 28 clinical observations (34 feet for children aged from 7 days to 1.5 years with severe atypical congenital clubfoot (Pirani 5,6 points, treated by the method of I. Ponseti. The average number of gypsum one foot to the full correction was - 6.3. It was written 38 achillotomy. Dates from the beginning of gypsum to achillotomy averaged - 34 days. All of the children undergoing treatment with us after the removal of plaster, dressed brace, fixing the foot fixed in position 45° abduction and 15° of flexion of the back and encouraged them to carry up to 3-4 years. All the children in this group achieved a complete correction of foot deformities without performing tenoligamentocapsulotomy. Results of treatment were evaluated according to the classification C. Pirani. Average score was 1.1 points. Follow-up was an average of 1 year 35 days.

  16. Atypical Celiac Disease Resistant to Thyroxine Replacement

    Directory of Open Access Journals (Sweden)

    Oguzhan Aksu

    2014-08-01

    Full Text Available Celiac disease, an immune-mediated enteropathy that develops in susceptible individuals upon ingestion of gluten containing diet, is closely associated with other autoimmune endocrine disorders, particularly autoimmune thyroid disease. Celiac disease and hypothyroidism ( especially due to Hashimoto disease cooccurence is frequently mentioned in the literature. The relationship between celiac disease and autoimmune thyroid disease was first described three decades ago. Patients usually have the classical presentation of diarrhoea and steatorrhoea but hypothyroidism with weight loss and increased dose requirement of L Thyroxine are two well recognised presentations of celiac disease in hypothyroidism. It is known that these cases are resistant to thyroxine replacement. Herein we presented a 35 year old female patient with atypical celiac disease and needed an extremely high dose of thyroxine such as 1600 mcg/day for treatment.

  17. Atypical odontalgia - pathophysiology and clinical management.

    Science.gov (United States)

    Baad-Hansen, L

    2008-01-01

    Atypical odontalgia (AO) is a chronic form of dental pain without signs of pathology. Several hypotheses have been put forward regarding the pathophysiology. AO has been proposed to be psychogenic, vascular, neuropathic or idiopathic. The scientific evidence supporting or rejecting these hypotheses are reviewed in this paper. At this time, the best supported hypothesis is that AO is a neuropathic pain condition. Relevant differential diagnoses, such as odontogenic pain, sinusitis, trigeminal neuralgia among others, are presented and the evidence regarding possible management strategies is reviewed. A treatment algorithm for AO is proposed based on the rather scarce scientific evidence available and inspired by a similar treatment algorithm for peripheral neuropathic pain. The proposed strategy involves an interdisciplinary approach including patient education, psychological counselling, topical and systemic medication and, importantly, avoidance of invasive treatments like surgery and endodontics. Two illustrative cases are presented.

  18. Slipped Capital Femoral Epiphysis in Atypical Patients.

    Science.gov (United States)

    Whyte, Noelle; Sullivan, Christopher

    2016-04-01

    When patients who are thin present with knee pain, it can be easy to overlook the possibility of slipped capital femoral epiphysis (SCFE). Although 80% of patients with a "slip" are obese, thin children are not immune to this problem. Endocrinopathies, especially hypothyroidism, can be associated with SCFE. This article describes guidelines for evaluating patients for a slip and highlights some important considerations for the atypical SCFE. Patients with open growth plates with thigh or knee pain should routinely have a hip examination as part of the evaluation. Plain radiographs, with an emphasis on obtaining a frog lateral image, are usually sufficient to make the diagnosis of SCFE. Patients diagnosed with SCFE should be immediately referred to an orthopedic surgeon because treatment for this condition is always surgical. Copyright 2016, SLACK Incorporated.

  19. Atypical Neurotransmitters and the Neurobiology of Depression.

    Science.gov (United States)

    Joca, Samia Regiane; Moreira, Fabricio Araujo; Wegener, Gregers

    2015-01-01

    Since the first report that the mechanism of action of antidepressants involves the facilitation of monoaminergic neurotransmission in the brain in the 1960s, the leading hypothesis about the neurobiology of depression has been the so called "monoaminergic hypothesis". However, a growing body of evidence from the last two decades also supports important involvement of non-monoaminergic mechanisms in the neurobiology of depression and antidepressant action. The discovery of nitric oxide (NO) and endocannabinoid signaling in the brain during the 1990s challenged the wellestablished criteria of classical neurotransmission. These transmitters are synthesized and released on demand by the postsynaptic neurons, and may act as a retrograde messenger on the presynaptic terminal, modulating neurotransmitter release. These unconventional signaling mechanisms and the important role as neural messengers have classified NO and endocannabinoids as atypical neurotransmitters. They are able to modulate neural signaling mediated by the main conventional neurotransmitters systems in the brain, including the monoaminergic, glutamatergic and GABAergic signaling systems. This review aims at discussing the fundamental aspects of NO- and endocannabinoid-mediated signaling in the brain, and how they can be related to the neurobiology of depression. Both preclinical and clinical evidence supporting the involvement of these atypical neurotransmitters in the neurobiology of depression, and in the antidepressant effects are presented here. The evidence is discussed on basis of their ability to modulate different neurotransmitter systems in the brain, including monoaminergic and glutamatergic ones. A better comprehension of NO and endocannabinoid signaling mechanisms in the neurobiology depression could provide new avenues for the development of novel non-monoamine based antidepressants.

  20. A case of atypical progressive supranuclear palsy

    Directory of Open Access Journals (Sweden)

    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

  1. Atypical/Nor98 Scrapie Infectivity in Sheep Peripheral Tissues

    Science.gov (United States)

    Andréoletti, Olivier; Orge, Leonor; Benestad, Sylvie L.; Beringue, Vincent; Litaise, Claire; Simon, Stéphanie; Le Dur, Annick; Laude, Hubert; Simmons, Hugh; Lugan, Séverine; Corbière, Fabien; Costes, Pierrette; Morel, Nathalie; Schelcher, François; Lacroux, Caroline

    2011-01-01

    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 PrPSc 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. PMID:21347349

  2. Association between paroxysmal trigeminal neuralgia and atypical facial pain.

    Science.gov (United States)

    Juniper, R P; Glynn, C J

    1999-12-01

    Paroxysmal trigeminal neuralgia and atypical facial pain are both fairly common conditions that produce pain in the face of different character. Trigeminal neuralgia is sharp and shooting, brought on by facial movement, change of temperature and by touching the face at a specific point (the trigger point). Atypical facial pain is dull and unrelenting and its site is ill-defined. Trigeminal neuralgia is generally more common in older people, and affects women slightly more than men, and atypical facial pain generally affects younger people, with women predominating. The pains should never be confused. We have noticed that many patients with trigeminal neuralgia have additional symptoms of atypical facial pain and so we reviewed the records of the Pain Relief Unit retrospectively. Of the 83 patients identified with trigeminal neuralgia where records were adequate, 35 (42%) also had atypical facial pain. Five of these had developed it before the onset of trigeminal neuralgia and could be examples of pretrigeminal neuralgia. There were eight patients in the series with multiple sclerosis, of whom two also had atypical facial pain. There seemed to be no relationship between the development of atypical facial pain and the interventions used to treat trigeminal neuralgia. It is important that both conditions are identified and treated individually.

  3. 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.

  4. Atypical systemic leishmaniasis to be considered in the differential of patients presenting with depressed immunity.

    Directory of Open Access Journals (Sweden)

    Nuha Nuwayri-Salti

    Full Text Available Systemic leishmaniasis has been known to present with prolonged fever, hepatosplenomegaly and wasting. Beside this classical form, a sub-clinical form has been identified. It is described with either one or two of the above symptoms missing; other findings have been reported instead, such as lymphadenopathy and anemia. In this report, we reveal a third unsuspected form which we are referring to as "atypical".Patients suspected to be immune-deficient were referred to our immunology specialized laboratory to study some aspects of their immune functions (not normally covered in the general laboratory. Multiple specialized tests were performed, including microscopic examinations using appropriate stains, and mainly cultures of biopsies on several types of specialized media. 19·4% of 160 patients were found to have close to normal laboratory profiles, but exhibited dysfunctional macrophages laden with Leishmania parasites.Findings such as the ones we obtained allowed us to uncover the presence of patients with an atypical form of systemic leishmaniasis. It presents with symptoms masquarading a condition in which the immune system is non functional. This predisposes patients to recurrent secondary infections resulting in clinical pictures with a great variety of signs and symptoms. These findings alerted us to the fact that systemic leishmaniasis presents with a much wider spectrum of signs and symptoms than so far suspected and is far more common than diagnosed to date. Furthermore, among these 31 patients was a number of adults. This proved that in our area systemic leishmaniasis is surely not limited to the pediatric age group. Our recommendation is to entertain the diagnosis of atypical systemic leishmaniasis in any patient with an unexplained depressed immunity state and in whom no obvious immunologic defect can be identified.

  5. Nasal potential difference measurements in patients with atypical cystic fibrosis.

    Science.gov (United States)

    Wilschanski, M; Famini, H; Strauss-Liviatan, N; Rivlin, J; Blau, H; Bibi, H; Bentur, L; Yahav, Y; Springer, H; Kramer, M R; Klar, A; Ilani, A; Kerem, B; Kerem, E

    2001-06-01

    The diagnosis of cystic fibrosis (CF) is based on characteristic clinical and laboratory findings. However, a subgroup of patients present with an atypical phenotype that comprises partial CF phenotype, borderline sweat tests and one or even no common cystic fibrosis transmembrane conductance regulator (CFTR) mutations. The aim of this study was to evaluate the role of nasal potential difference (PD) measurements in the diagnosis of CF patients with an atypical presentation and in a population of patients suspected to have CF. Nasal PD was measured in 162 patients from four different groups: patients with classical CF (n = 31), atypical phenotype (n = 11), controls (n = 50), and patients with questionable CF (n = 70). The parameter, or combination of nasal PD parameters was calculated in order to best discriminate all CF patients (including atypical CF) from the non-CF group. The patients with atypical CF disease had intermediate values of PD measurements between the CF and non-CF groups. The best discriminate model that assigned all atypical CF patients as CF used: e(response to chloride-free and isoproterenol/response to amiloride) with a cut-off >0.70 to predict a CF diagnosis. When this model was applied to the group of 70 patients with questionable CF, 24 patients had abnormal PD similar to the atypical CF group. These patients had higher levels of sweat chloride concentration and increased rate of CFTR mutations. Nasal potential difference is useful in diagnosis of patients with atypical cystic fibrosis. Taking into account both the sodium and chloride transport elements of the potential difference allows for better differentiation between atypical cystic fibrosis and noncystic fibrosis patients. This calculation may assist in the diagnostic work-up of patients whose diagnosis is questionable.

  6. Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

    DEFF Research Database (Denmark)

    Schejbel, L; Schmidt, I M; Kirchhoff, Eva Maria

    2011-01-01

    Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient child...

  7. 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.

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

    Science.gov (United States)

    Arumugam, Sendhil Coumary; Murugesan, Sharmila; Pradeep, Sunitha; John, Lopamudra; Kolluru, Vasavi

    2016-06-01

    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.

  9. Atypical real estate objects: legal regime and control system

    Directory of Open Access Journals (Sweden)

    Voskresenskaya Elena

    2017-01-01

    Full Text Available The legal concept of immovable things raises controversy in legal practice. Determining and understanding the definition of real estate, the complexity and diversity of these objects, a growing appearance of so-called atypical properties (such as sport stadiums, roads, boreholes, analyzing legislation and judicial practice of this field – all these issues call for a deep study of this topic. There is a conflicting arbitration practice, the subject of which is the learning of the legal nature of atypical real estate (for instance, asphalt playgrounds, car parks, fences, wells. The object of the research is the learning of the legal status of atypical real estate.

  10. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

    Science.gov (United States)

    Jehee, Fernanda S; de Oliveira, Valdirene T; Gurgel-Giannetti, Juliana; Pietra, Rafaella X; Rubatino, Fernando V M; Carobin, Natália V; Vianna, Gabrielle S; de Freitas, Mariana L; Fernandes, Karla S; Ribeiro, Beatriz S V; Brüggenwirth, Hennie T; Ali-Amin, Roza; White, Janson J; Akdemir, Zeynep C; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R; Varela, Monica C; Koiffmann, Célia; Rosenberg, Carla; Carvalho, Cláudia M B

    2017-09-01

    We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader-Willi syndrome and Pitt-Hopkins syndrome. These girls were diagnosed in early infancy with Prader-Willi syndrome, but developed an atypical phenotype, with apparent intellectual deficiency and lack of obesity. Array-comparative genomic hybridization confirmed a de novo paternal deletion of the 15q11.2q13 region and exome sequencing identified a second mutational event in both girls, which was a novel variant c.145+1G>A affecting a TCF4 canonical splicing site inherited from the mosaic mother. RNA studies showed that the variant abolished the donor splicing site, which was accompanied by activation of an alternative non-canonical splicing-site which then predicts a premature stop codon in the following exon. Clinical re-evaluation of the twins indicated that both variants are likely contributing to the more severe phenotypic presentation. Our data show that atypical clinical presentations may actually be the expression of blended clinical phenotypes arising from independent pathogenic events at two loci. © 2017 Wiley Periodicals, Inc.

  11. Atypical clinical and radiological course of a patient with Canavan disease.

    Science.gov (United States)

    Sarret, Catherine; Boespflug-Tanguy, Odile; Rodriguez, Diana

    2016-04-01

    Canavan disease (CD) is a rare metabolic disorder caused by aspartoacylase (ASPA) deficiency. It leads to severe neurological degeneration with spongiform brain degeneration. Accumulation of N-acetylaspartate (NAA) in brain and urine is specific to the disease and guides diagnosis. Magnetic resonance imaging (MRI) usually shows diffuse white matter abnormalities with involvement of the basal ganglia. Mild forms of the disease with a more favorable clinical course and radiological involvement of the basal ganglia without white matter abnormalities have also been reported. Here we report an atypical case of a girl aged nine years with CD. The disease started at the classical age of five months. Classical elevation of NAA in brain and urine was present and genetic analysis identified mutations in the ASPA gene. However, clinical evolution was milder than typical CD, with partial motor impairment and relatively well-preserved cognitive skills. MRI was also atypical with low white matter involvement and unusual topography and evolution of abnormalities in the basal ganglia.

  12. Function of the A-type cyclins during gametogenesis and early embryogenesis.

    Science.gov (United States)

    Wolgemuth, Debra J

    2011-01-01

    The cyclins and their cyclin-dependent kinase partners, the Cdks, are the basic components of the machinery that regulates the passage of cells through the cell cycle. Among the cyclins, those known as the A-type cyclins are unique in that in somatic cells, they appear to function at two stages of the cell cycle, at the G1-S transition and again as the cells prepare to enter M-phase. Higher vertebrate organisms have two A-type cyclins, cyclin A1 and cyclin A2, both of which are expressed in the germ line and/or early embryo, following highly specialized patterns that suggest functions in both mitosis and meiosis. Insight into their in vivo functions has been obtained from gene targeting experiments in the mouse model. Loss of cyclin A1 results in disruption of spermatogenesis and male sterility due to cell arrest in the late diplotene stage of the meiotic cell cycle. In contrast, cyclin A2-deficiency is marked by early embryonic lethality; thus, understanding the function of cyclin A2 in the adult germ line awaits conditional mutagenesis or other approaches to knock down its expression.

  13. Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families

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    Imen Habibi

    2010-07-01

    Full Text Available Imen Habibi1,Imen Sfar1,Walid Ben Alaya1, Jihen Methlouthi2, Abdelkrim Ayadi2, Mounira Brahim2, Jacques Blouin3, Raoudha Dhagbouj1, Thouraya Ben Rhomdhane1, Mouna Makhlouf1, Houda Aouadi1, Saloua Ayed-Jendoubi1, Véronique Fremeaux-bacchi3, Tahar Sfar2, Taieb Ben Abdallah1, Khaled Ayed1, Yousr Gorgi11Laboratory of Immunology, Charles Nicolle Hospital, Tunis, Tunisia; 2Paediatric Department, Tahar Sfar Hospital, Mahdia, Tunisia; 3Immunology Department, George Pompidou Hospital, Paris, FranceAbstract: We carried out a protein and genetic investigation of the ¬factor H gene mutations within two families presenting with a diagnostic suspicion of atypical hemolytic uremic syndrome (aHUS. The results within the patients of the first family revealed a factor H-deficiency. Direct sequencing allowed the detection of a 4-nucleotide deletion in the factor H gene. This deletion was found as the homozygote form in the proband and as the heterozygote form in the parents. Protein and functional analyses of the complement system were normal in all members of the second family. However, the molecular investigation for the father showed the presence of an amino acid substitution in the FH gene. Unfortunately, his two affected children died without being investigated for mutations. The functional consequences of these abnormal proteins are still to be demonstrated.Keywords: atypical hemolytic uremic syndrome, complement, alternative pathway, factor H, deletion, nucleotide substitution

  14. Direct observation of inclined a-type threading dislocation with a-type screw dislocation in GaN

    Science.gov (United States)

    Matsubara, Tohoru; Sugimoto, Kohei; Goubara, Shin; Inomoto, Ryo; Okada, Narihito; Tadatomo, Kazuyuki

    2017-05-01

    We investigated both the atomic arrangements in the core structure of threading dislocations (TDs) and their behaviors in unintentionally doped c-plane-GaN layers grown by metalorganic vapor phase epitaxy and hydride vapor phase epitaxy using high angle annular dark-field scanning transmission electron microscopy (HAADF-STEM). The extra image contrast near the core was attributed to an extra displacement in a-type TDs in addition to the core structures revealed in previous reports; we used the notation "with displacement" to describe the new core structure. We found that TDs incline towards both the m- and a-directions from the c-direction. The transition of a-type TDs from the conventional core structure to the structure with displacement was deduced from its relationship to the TD inclination. We also found similarities between a-type screw dislocations and a-type TDs with displacement in the atomic-scale HAADF-STEM images. We concluded that a-type TDs could incline towards the a-direction via a-type screw dislocations, and that these inclined a-type TDs are observed as the core structure with displacement.

  15. ATYPICAL PRIMARY HYPERPARATHYROIDISM DUE TO HYPOVITAMINOSIS D.

    Science.gov (United States)

    Gaţu, Alina-Andreea; Velicescu, C; Novac, Roxana; Mogoş, Voichiţa; Brănişteanu, D D

    2015-01-01

    Vitamin D deficiency is nowadays very common in the general population and also in patients with primary hyperparathyroidism. Hypovitaminosis D may modify the clinical features and the severity of primary hyperparathyroidism. We present the case of a 75-year-old woman with a 10 year history of nephrolithiasis and severe osteoporosis, with multiple fragility fractures. Her bone and kidney status required a more thorough metabolic assessment. Despite minimal changes in serum calcium and phosphate levels, parathyroid hormone (PTH) level was markedly elevated. Ultrasound and specific Sesta-MIBI scintigraphy diagnosed and localized a left parathyroid adenoma. Vitamin D assessment showed levels in the range of hypovitaminosis. Vitamin D deficiency may mask hypercalcemia despite high serum PTH levels, and does not seem to diminish but on the contrary increases the risk of kidney lithiasis, as well as the deleterious effects of hyperparathyroidism on bone.

  16. Computing sleep deficiency.

    Science.gov (United States)

    Erren, Thomas C; Groß, J Valerie; Lewis, Philip

    2017-11-20

    Sleep deficiency is a major public health concern. Since epidemiological studies play an important role in public health evaluations, this theoretical paper pursues answers to the question: 'How can we compute sleep deficiency as informative measures of exposures or doses in observational research?' Starting from the social jetlag concept and based on the chronodisruption rationale, we illustrate and discuss five approaches (one established and four untested, each with unique strengths and limitations) to quantify sleep deficiency by focusing on the timing and duration of sleep. Hitherto, social jetlag and chronodisruption rationale were neither explicitly proposed nor developed as assessments of sleep deficiency but, as we suggest, could potentially be utilized to this end. This first foray into computing sleep deficiency in epidemiological studies makes clear that laboratory, field and epidemiological collaboration is pre-requisite to elucidating potential (co-)causal roles of sleep deficiency in disease endpoints. © 2017 European Sleep Research Society.

  17. Acquired color vision deficiency.

    Science.gov (United States)

    Simunovic, Matthew P

    2016-01-01

    Acquired color vision deficiency occurs as the result of ocular, neurologic, or systemic disease. A wide array of conditions may affect color vision, ranging from diseases of the ocular media through to pathology of the visual cortex. Traditionally, acquired color vision deficiency is considered a separate entity from congenital color vision deficiency, although emerging clinical and molecular genetic data would suggest a degree of overlap. We review the pathophysiology of acquired color vision deficiency, the data on its prevalence, theories for the preponderance of acquired S-mechanism (or tritan) deficiency, and discuss tests of color vision. We also briefly review the types of color vision deficiencies encountered in ocular disease, with an emphasis placed on larger or more detailed clinical investigations. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Familial Paroxysmal Exercise-Induced Dystonia: Atypical Presentation of Autosomal Dominant GTP-Cyclohydrolase 1 Deficiency

    Science.gov (United States)

    Dale, Russell C.; Melchers, Anna; Fung, Victor S. C.; Grattan-Smith, Padraic; Houlden, Henry; Earl, John

    2010-01-01

    Paroxysmal exercise-induced dystonia (PED) is one of the rarer forms of paroxysmal dyskinesia, and can occur in sporadic or familial forms. We report a family (male index case, mother and maternal grandfather) with autosomal dominant inheritance of paroxysmal exercise-induced dystonia. The dystonia began in childhood and was only ever induced…

  19. Manganese deficiency in plants

    DEFF Research Database (Denmark)

    Schmidt, Sidsel Birkelund; Jensen, Poul Erik; Husted, Søren

    2016-01-01

    restricting crop productivity in many places of the world. Hence, timely alleviation of latent Mn deficiency is a challenge in promoting plant growth and quality. We describe here the key mechanisms of Mn deficiency in plants by focusing on the impact of Mn on PSII stability and functionality. We also address...... the mechanisms underlying the differential tolerance towards Mn deficiency observed among plant genotypes, which enable Mn-efficient plants to grow on marginal land with poor Mn availability....

  20. Profile of hepatitis A infection with atypical manifestations in children.

    Science.gov (United States)

    Samanta, Tryambak; Das, Anjan Kumar; Ganguly, Sutapa

    2010-01-01

    We assessed the clinical course and biochemical profile of symptomatic children with viral hepatitis A who had atypical manifestations. Of 229 children with hepatitis A, atypical manifestations were found in 32 (14%) subjects. Prolonged cholestasis (n = 14), acute liver failure (9), relapse (9), ascites (8), and hematological problems (8) were the common presentations. Liver histology was suggestive of chronic liver disease in six children with protracted jaundice. Patients with atypical presentations were older (7.7 [1.6] years vs. 6.5 [2.6] years; p=0.012) and had higher total serum bilirubin (13.7 [8.1] mg/dL vs. 7.2 [4.0] mg/dL; p=children with acute hepatitis A infection have atypical presentation which is associated with increase in morbidity.

  1. Neural Correlates of Reward Processing in Typical and Atypical Development

    Directory of Open Access Journals (Sweden)

    Emma G. Duerden PhD

    2016-09-01

    Full Text Available Atypically developing children including those born preterm or who have autism spectrum disorder can display difficulties with evaluating rewarding stimuli, which may result from impaired maturation of reward and cognitive control brain regions. During functional magnetic resonance imaging, 58 typically and atypically developing children (6-12 years participated in a set-shifting task that included the presentation of monetary reward stimuli. In typically developing children, reward stimuli were associated with age-related increases in activation in cognitive control centers, with weaker changes in reward regions. In atypically developing children, no age-related changes were evident. Maturational disturbances in the frontostriatal regions during atypical development may underlie task-based differences in activation.

  2. The Use of Electroconvulsive Therapy in Atypical Psychotic Presentations

    Science.gov (United States)

    Vasu, Devi

    2007-01-01

    Convulsive therapy and its progeny, electroconvulsive therapy (ECT), were originally used for the treatment of catatonic schizophrenia, and there is little doubt that ECT remains an effective intervention for the treatment of schizophrenia. However, current practice tends to favor the use of ECT in severe or treatment refractory affective disorders, and its use in schizophrenia and other nonaffective (atypical) psychotic disorders has become controversial. Case reports have suggested a role for ECT in two specific atypical psychotic disorders: Cotard's syndrome and cycloid psychosis. In this article, we review the atypical psychotic disorders and report a series of five case examples that signify the role of ECT in atypical psychotic presentations, particularly when the symptoms resemble those found in Cotard's syndrome and cycloid psychosis. PMID:20428309

  3. Atypical brain torque in boys with developmental stuttering.

    Science.gov (United States)

    Mock, Jeffrey Ryan; Zadina, Janet N; Corey, David M; Cohen, Jeremy D; Lemen, Lisa C; Foundas, Anne L

    2012-01-01

    The counterclockwise brain torque, defined as a larger right prefrontal and left parietal-occipital lobe, is a consistent brain asymmetry. Reduced or reversed lobar asymmetries are markers of atypical cerebral laterality and have been found in adults who stutter. It was hypothesized that atypical brain torque would be more common in children who stutter. Magnetic resonance imaging-based morphology measures were completed in boys who stutter (n = 14) and controls (n = 14), ages 8-13. The controls had the expected brain torque configurations whereas the boys who stutter were atypical. These results support the hypothesis that developmental stuttering is associated with atypical prefrontal and parietal-occipital lobe asymmetries.

  4. [Prevalence and determinants of atypical presentation of acute coronary syndrome].

    Science.gov (United States)

    Pinto, David; Lunet, Nuno; Azevedo, Ana

    2011-12-01

    Knowledge of the characteristics of patients with atypical presentation of acute coronary syndromes may contribute to increased sensitivity in diagnosis in a given population. The purpose of this study is to quantify the prevalence of atypical presentation, to identify its determinants, and to describe the presenting symptoms in cases of acute coronary syndrome at the emergency department of Hospital São João, Porto. Systematic sample of 288 emergency admissions with a confirmed diagnosis of acute coronary syndrome in 2007. Atypical presentation was defined as absence of chest pain and/or syncope. The prevalence of atypical presentation was 20.5% [95% confidence interval (CI): 16.0 to 25.5], with no important variation by gender. It increased with age and was more frequent in cases of ST-segment elevation myocardial infarction. In multivariate analysis, atypical presentation was associated with age [>70 versus ≤ 50 years, odds ratio (OR)=3.45; 95%CI: 1.03-11.61] and it was about four times less likely in the presence of history of ischemic heart disease, hypertension, dyslipidemia and smoking. A history of heart failure was independently associated with a higher likelihood of acute coronary syndrome with atypical presentation (OR = 4.15, 95%CI 1.50-11.46). Among the 223 cases who had chest pain or discomfort, a growing, oppressive, prolonged (longer than 30 minutes), recurrent and episodic pain prevailed. Among other symptoms, dyspnea was the most frequently reported, either as the main symptom in cases of atypical presentation or concurrently with typical symptoms. Factors associated with atypical presentation are consistent with those described in other populations. Using routine clinical data allowed access to a large data base on a representative sample of patients admitted to the emergency department of a third-level hospital that serves a large part of the local urban population. In medical records, data are unstandardized and heterogeneous in validity

  5. 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.

  6. [Sturge-Weber syndrome with atypical calcifications].

    Science.gov (United States)

    Prieto, M L; de Juan, J; Antón, M; Roiz, C; Crespo, M

    1997-09-01

    The syndrome, or disease, or Sturge Weber (SSW) is a neuro-ectodermic disorder of unknown incidence, sporadic presentation and specific sex incidence. It is characterized by the presence of a flat, facial angioma which affects at least the first branch of the trigeminal nerve, association with ipsilateral leptomeningeal vascular anomalies, one or more symptoms (epilepsy, hemiparesia, hemiplegia or mental retardation) and ipsilateral vascular lesions of the choroid which lead to glaucoma. As a consequence of lepto-meningeal involvement, homolateral cerebral hemi-atrophy develops together with cortico-subcortical calcifications with a characteristic "railway line" appearance. We present the case of a six month old girl with a flat port wine angioma on the left half of her face, including three branches of the trigeminal nerve and the left half of her body. She had partial motor crises of the right leg. On the cranial CT there were left periventricular calcifications and calcifications of the choroid plexus. Gadolinium-MR showed signs of left cerebral hemi-atrophy, which was confirmed on the cerebral SPECT (left temporal hypoperfusion). This case is interesting on account of the presence of atypical calcifications, both with regard to the sites and age of presentation. We emphasize the need for cranial CT to rule out the presence of calcifications, (as in this case) not seen on Xray of the skull or on MR. We favour the use of cerebral SPECT as a complementary diagnostic technique.

  7. 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.

  8. 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.

  9. Atypical proliferating mucinous tumors of gigantic dimensions

    Directory of Open Access Journals (Sweden)

    Likić-Lađević Ivana

    2008-01-01

    Full Text Available Background. Ovarian tumors of low malignant potential (LMP are also known as atypically proliferating tumors. Ovarian tumors of LPM account for approximately 15% of all epithelial ovarian cancers. Mean age of occurrence is 40 years and they are 15-20 cm in diameter. Case report. A 32-year-old female patient was hospitalized as an urgent case with a large tumor mass that filled the entire abdomen. Cyst was 100 × 70 cm dimensions belonging to the right ovary and filled with 18 liters of content. Right adnexectomy, resection of the second ovary, as well as biopsy of the omentum were performed. Lymphadenectomy of the right iliac and obturator area was also performed. After receiving definitive histopathological results it was decided to perform a radical reoperation. On the 10th postoperative day relaparotomy, total hysterectomy and left adnexectomy were performed. The patient was released on the 6th postoperative day. She used to come to regular examinations up to date. Conclusion. This case is a proof that LMP tumors have low malignant potential, they grow slowly and can reach great proportions.

  10. Blink reflexes in patients with atypical odontalgia.

    Science.gov (United States)

    Baad-Hansen, Lene; List, Thomas; Jensen, Troels Staehelin; Leijon, Göran; Svensson, Peter

    2005-01-01

    To use the human blink reflex (BR) to explore possible neuropathic pain mechanisms in patients with atypical odontalgia (AO). In 13 AO patients, the BR was elicited using a concentric electrode and recorded bilaterally with surface electromyographic (EMG) electrodes on both orbicularis oculi muscles. Electrical stimuli were applied to the skin above branches of the V1, V2, and V3 nerves and to the V branch contralateral to the painful branch. Sensory and pain thresholds were determined. The BR examination of the painful V branch was repeated during a capsaicin pain-provocation test. The data were analyzed with nonparametric statistics. The BR responses (R2 and R3) evoked by stimulation of V3 were significantly smaller than the BR responses evoked by stimulation of V1 and V2 (P .569), and the BR (R2 and R3) was not significantly modulated by experimental pain (P > .080). The sensory thresholds were significantly lower on the painful side compared to the nonpainful side (P = .014). The pain thresholds were not different between sides (P > .910). No major differences between the V nociceptive pathways on the right and left sides were found in a relatively small group of AO patients. Future studies that compare BRs in AO patients and healthy volunteers are needed to provide further knowledge on the pain mechanisms in AO.

  11. Atypical resource allocation may contribute to many aspects of autism

    OpenAIRE

    Goldknopf, Emily J.

    2013-01-01

    Based on a review of the literature and on reports by people with autism, this paper suggests that atypical resource allocation is a factor that contributes to many aspects of autism spectrum conditions, including difficulties with language and social cognition, atypical sensory and attentional experiences, executive and motor challenges, and perceptual and conceptual strengths and weaknesses. Drawing upon resource theoretical approaches that suggest that perception, cognition, and action dra...

  12. Importance of the swallowing atypical in them malocclusions

    OpenAIRE

    Jiménez Jiménez, Jonatan; Universidad Nacional Mayor de San Marcos, Facultad de Odontología.

    2017-01-01

    This review aims to determine the atypical swallowing malocclusions. When there are inadequate move-ments of the tongue and / or other structures during oral and pharyngolaryngeal phase of swallowing, talking about atypical swallowing, as a non-physiological habit. Its objectives may be multiple, simul-taneously acting alone or cumulatively. The size of a large tongue has been found as an impediment to correct such alternations, though this is a cause of causing malocclusion. the importance o...

  13. Generic penetration in the retail atypical antipsychotic market.

    Science.gov (United States)

    Lenderts, Susan; Kalali, Amir H; Buckley, Peter

    2010-03-01

    In this article, we explore the penetration of generic atypical antipsychotics in the United States market before and after the availability of generic risperidone in July 2008. Analysis suggests that, overall, generic penetration into the atypical antipsychotic market has grown from approximately three percent in January 2008 to more than 25 percent in December 2009. Similar trends are uncovered when branded and generic prescriptions are analyzed by specialty.

  14. 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.

  15. 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.

  16. MR findings of atypical meningioma: comparison with benign meningioma

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Ji Hoon; Lee, Ho Kyu; Kim, Jung Hoon; Shin, Byung Suck; Lim, Soo Mee; Kim, Dae Hong; Choi, Choong Gon; Suh, Dae Chul [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

    1998-10-01

    Atypical meningioma is an intermediate type, between benign and malignant meningiomas, and has a higher recurrence rate and poorer prognosis than the benign type. The purpose of this study was to evaluate the differential imaging findings between atypical and benign meningiomas. Over a five-year period, 11 acses of atypical meningioma (in ten patients) were pathologically proven, and 30 benign meningiomas were collected consecutively over 6 months. In retrospective analysis, the MR findings of atypical and benign meningiomas were compared with respect to tumor margin, lobulation, intra-/peritumoral hemorrhage, cystic change, heterogeneity, peritumoral edema, enhacement of adjacent meninges, invasion of adjacent venous sinus and adjacent bony change. Signigicant differential MR findings between the two groups were ill-defined tumor margin(atypical-27%;benign-0%), lobulation(82%;43%), heterogeneity(73%;30%), and peritumoral edema(100%;47%). With regard to moderate edema, there was no significant difference between the two groups (36%;23%), and with regard to intra-/peritumoral hemorrhage, cystic change, enhancement of adjacent meninges, invasion of adjacent venous sinus, and adjacent bony change, MR findings between the two groups were not significantly different. The MR findings of atypical meningioma are significantly different in several ways from those of benign meningioma, and these differences may help differentiate the two types.=20.

  17. Neurological manifestations of atypical celiac disease in childhood.

    Science.gov (United States)

    Sel, Çiğdem Genç; Aksoy, Erhan; Aksoy, Ayşe; Yüksel, Deniz; Özbay, Ferda

    2017-09-01

    Various typical and atypical neurological manifestations can be seen as the initial symptoms of celiac disease (CD). We suggest that gluten toxicity is the most suspicious triggering risk factor for probable pathophysiological pathways of neurological involvement in atypical CD. The medical charts of 117 patients diagnosed with atypical CD were retrieved from a tertiary center in Ankara, Turkey. Eight patients reported as having neurologic manifestations as initiating symptoms were evaluated in detail. The initial neurological manifestations of CD in our study included atypical absence, which was reported first in this study, generalized tonic-clonic seizures, complex partial seizures, severe axial hypotonia and down phenotype, multifocal leukoencephalopathy, mild optic neuritis, attention deficit hyperactivity disorder, and short duration headaches. Seizures mostly emphasizing atypical absence could be the initial presentation manifestation of CD, first described in this literature. Gluten toxicity could be one of the most powerful triggering factors for developing epilepsy in CD. Learning disorders such as attention deficit hyperactivity disorder, short duration headaches, mild optic neuritis, encephalopathy, and DS could also be the initial neurological manifestations of atypical CD. A gluten-restricted diet may improve neurological complaints, epileptic discharges, and neuropsychiatric symptoms. All we found may be a small part of the full range of neurological disorders of unknown origin related to CD. Clinical suspicion should be the rule for accurate diagnosis of the disease.

  18. Exploring atypical verb+noun combinations in learner technical writing

    Directory of Open Access Journals (Sweden)

    María José Luzón Marco

    2011-12-01

    Full Text Available 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 attempt to explore the reasons why the learners deviate from NS's norms. The analysis indicates that these learners tend to have problems with a set of sub-technical and high-frequency verbs. Deviant combinations involving these verbs are frequently the result of a deficient knowledge of the phraseology of academic and technical discourse. The unawareness of collocations that are typical of this discourse often leads students to create V+N combinations by relying on the “Open Choice Principle” (Sinclair, 1991 or by using patterns from their mother tongue.El discurso profesional y académico se caracteriza por una fraseología específica, que suele plantear problemas a los estudiantes. Este artículo investiga colocaciones de verbo+nombre atípicas en un corpus de textos técnicos en inglés escritos por estudiantes españoles. El estudio se centra en los verbos que más frecuentemente aparecen en estas combinaciones atípicas y explora las razones por las que los estudiantes se desvían de la norma. El análisis indica que estos estudiantes suelen tener problemas con un grupo de verbos sub-técnicos y verbos de alta frecuencia. Las combinaciones atípicas en las que estos verbos aparecen son frecuentemente el resultado de un conocimiento deficiente de la fraseología del discurso académico y técnico. El desconocimiento de colocaciones que son típicas de este discurso a menudo lleva a los estudiantes a crear combinaciones basándose en el “principio de opción abierta” (Sinclair, 1991 o a usar colocaciones prestadas de su lengua materna.

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... diet. Young children who drink a lot of cow's milk may be at risk for iron-deficiency anemia. ... her risk for iron-deficiency anemia. For example, cow's milk is low in iron. For this and other ...

  20. Serine-deficiency syndromes

    NARCIS (Netherlands)

    de Koning, Tom J; Klomp, Leo W J

    PURPOSE OF REVIEW: Serine-deficiency disorders comprise a new group of neurometabolic diseases and are caused by defects in the biosynthesis of the amino acid L-serine. In contrast to most neurometabolic disorders, serine-deficiency disorders are potentially treatable. Furthermore, the severe

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Organization NHLBI Director Budget, Planning, & Legislative Advisory Committees Jobs Contact Us FAQs Home » Iron-Deficiency Anemia Explore ... the body. Iron-deficiency anemia usually develops over time if your body doesn't have enough iron ...

  2. Iron deficiency anemia

    Science.gov (United States)

    Anemia - iron deficiency ... iron from old red blood cells. Iron deficiency anemia develops when your body's iron stores run low. ... You may have no symptoms if the anemia is mild. Most of the time, ... slowly. Symptoms may include: Feeling weak or tired more often ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... have enough iron stored in your body to make up for the lost iron, you'll develop iron- ... by mouth. This therapy also is given to people who need immediate treatment for iron-deficiency ... have iron-deficiency anemia, get ongoing care to make sure your iron levels are improving. At your ...

  4. Muscle phosphorylase kinase deficiency

    DEFF Research Database (Denmark)

    Preisler, N; Orngreen, M C; Echaniz-Laguna, A

    2012-01-01

    To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).......To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD)....

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Tests Blood Transfusion Restless Legs Syndrome Send a link to NHLBI to someone by E-MAIL | ... Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... shows how Susan, a full-time worker and student, has coped with having iron-deficiency anemia. Prior to her diagnosis, Susan had symptoms such as tiredness, poor skin tone, dizziness, and depression. After her doctor diagnosed her with iron-deficiency ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... For more information about diet and supplements, go to "How Is Iron-Deficiency Anemia Treated?" Infants and young ... who should be screened for iron deficiency, and how often: Girls aged 12 to 18 and women of childbearing age who are ...

  8. Nutritional iron deficiency

    NARCIS (Netherlands)

    Zimmermann, M.B.; Hurrell, R.F.

    2007-01-01

    Iron deficiency is one of the leading risk factors for disability and death worldwide, affecting an estimated 2 billion people. Nutritional iron deficiency arises when physiological requirements cannot be met by iron absorption from diet. Dietary iron bioavailability is low in populations consuming

  9. Alpha1-antitrypsin deficiency

    DEFF Research Database (Denmark)

    Stolk, Jan; Seersholm, Niels; Kalsheker, Noor

    2006-01-01

    deficiency and contributes to an international database located in Malmö, Sweden. This database is designed to increase understanding of AAT deficiency. Additionally, AIR members are engaged in active, wide-ranging investigations to improve the diagnosis, monitoring, and treatment of the disease and meet...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... women of childbearing age has iron-deficiency anemia. Pregnant women also are at higher risk for the condition ... for the fetus' growth. About half of all pregnant women develop iron-deficiency anemia. The condition can increase ...

  11. Maternal vitamin D deficiency

    African Journals Online (AJOL)

    GB

    2017-05-01

    May 1, 2017 ... ABSTRACT. BACKGROUND: A rare but reversible cause of dilated cardiomyopathy occurs in infants born to vitamin D deficient mothers due to hypocalcaemia. CASE REPORT: We report a case of dilated cardiomyopathy due to hypocalcaemia secondary to maternal vitamin D deficiency in an.

  12. G6PD Deficiency

    Science.gov (United States)

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen ...

  13. Iron deficiency in childhood

    NARCIS (Netherlands)

    Uijterschout, L.

    2015-01-01

    Iron deficiency (ID) is the most common micronutrient deficiency in the world. Iron is involved in oxygen transport, energy metabolism, immune response, and plays an important role in brain development. In infancy, ID is associated with adverse effects on cognitive, motor, and behavioral development

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... have RLS often have a hard time sleeping. Iron-deficiency anemia can put children at greater risk for lead poisoning and infections. Some signs and symptoms of iron-deficiency anemia are related to the condition's causes. For ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... food. Overview Iron-deficiency anemia is a common type of anemia . The term "anemia" usually refers to a condition ... symptoms of iron-deficiency anemia apply to all types of anemia . Signs and Symptoms of Anemia The most common ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... will diagnose iron-deficiency anemia based on your medical history, a physical exam, and the results from tests and procedures. Once ... specialists also may help treat iron-deficiency anemia. Medical ... be pregnant. Physical Exam Your doctor will do a physical exam to ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... be advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If your iron-deficiency anemia is severe, you ... get a transfusion of red blood cells. A blood transfusion is a safe, common procedure in which blood ...

  18. Hyperthyroidism caused by acquired immune deficiency syndrome.

    Science.gov (United States)

    Wang, J-J; Zhou, J-J; Yuan, X-L; Li, C-Y; Sheng, H; Su, B; Sheng, C-J; Qu, S; Li, H

    2014-01-01

    Acquired immune deficiency syndrome (AIDS) is an immune deficiency disease. The etiology of hyperthyroidism, which can also be immune-related, is usually divided into six classical categories, including hypophyseal, hypothalamic, thyroid, neoplastic, autoimmune and inflammatory hyperthyroidism. Hyperthyroidism is a rare complication of highly active antimicrobial therapy (HAART) for human immunodeficiency virus (HIV). Hyperthyroidism caused directly by AIDS has not been previously reported. A 29-year-old man who complained of dyspnea and asthenia for 1 month, recurrent fever for more than 20 days, and breathlessness for 1 week was admitted to our hospital. The thyroid function test showed that the level of free thyroxine (FT4) was higher than normal and that the level of thyroid-stimulating hormone (TSH) was below normal. He was diagnosed with hyperthyroidism. Additional investigations revealed a low serum albumin level and chest infection, along with diffuse lung fibrosis. Within 1 month, he experienced significant weight loss, no hand tremors, intolerance of heat, and perspiration proneness. We recommended an HIV examination; subsequently, AIDS was diagnosed based on the laboratory parameters. This is the first reported case of hyperthyroidism caused by AIDS. AIDS may cause hyperthyroidism by immunization regulation with complex, atypical, and easily ignored symptoms. Although hyperthyroidism is rare in patients with AIDS, clinicians should be aware of this potential interaction and should carefully monitor thyroid function in HIV-positive patients.

  19. Eculizumab in secondary atypical haemolytic uraemic syndrome

    Science.gov (United States)

    Cavero, Teresa; Rabasco, Cristina; López, Antía; Román, Elena; Ávila, Ana; Sevillano, Ángel; Huerta, Ana; Rojas-Rivera, Jorge; Fuentes, Carolina; Blasco, Miquel; Jarque, Ana; García, Alba; Mendizabal, Santiago; Gavela, Eva; Macía, Manuel; Quintana, Luis F.; María Romera, Ana; Borrego, Josefa; Arjona, Emi; Espinosa, Mario; Portolés, José; Gracia-Iguacel, Carolina; González-Parra, Emilio; Aljama, Pedro; Morales, Enrique; Cao, Mercedes; Rodríguez de Córdoba, Santiago

    2017-01-01

    Abstract Background. Complement dysregulation occurs in thrombotic microangiopathies (TMAs) other than primary atypical haemolytic uraemic syndrome (aHUS). A few of these patients have been reported previously to be successfully treated with eculizumab. Methods. We identified 29 patients with so-called secondary aHUS who had received eculizumab at 11 Spanish nephrology centres. Primary outcome was TMA resolution, defined by a normalization of platelet count (>150 × 109/L) and haemoglobin, disappearance of all the markers of microangiopathic haemolytic anaemia (MAHA), and improvement of renal function, with a ≥25% reduction of serum creatinine from the onset of eculizumab administration. Results. Twenty-nine patients with secondary aHUS (15 drug-induced, 8 associated with systemic diseases, 2 with postpartum, 2 with cancer-related, 1 associated with acute humoral rejection and 1 with intestinal lymphangiectasia) were included in this study. The reason to initiate eculizumab treatment was worsening of renal function and persistence of TMA despite treatment of the TMA cause and plasmapheresis. All patients showed severe MAHA and renal function impairment (14 requiring dialysis) prior to eculizumab treatment and 11 presented severe extrarenal manifestations. A rapid resolution of the TMA was observed in 20 patients (68%), 15 of them showing a ≥50% serum creatinine reduction at the last follow-up. Comprehensive genetic and molecular studies in 22 patients identified complement pathogenic variants in only 2 patients. With these two exceptions, eculizumab was discontinued, after a median of 8 weeks of treatment, without the occurrence of aHUS relapses. Conclusion. Short treatment with eculizumab can result in a rapid improvement of patients with secondary aHUS in whom TMA has persisted and renal function worsened despite treatment of the TMA-inducing condition. PMID:28339660

  20. Eculizumab in secondary atypical haemolytic uraemic syndrome.

    Science.gov (United States)

    Cavero, Teresa; Rabasco, Cristina; López, Antía; Román, Elena; Ávila, Ana; Sevillano, Ángel; Huerta, Ana; Rojas-Rivera, Jorge; Fuentes, Carolina; Blasco, Miquel; Jarque, Ana; García, Alba; Mendizabal, Santiago; Gavela, Eva; Macía, Manuel; Quintana, Luis F; María Romera, Ana; Borrego, Josefa; Arjona, Emi; Espinosa, Mario; Portolés, José; Gracia-Iguacel, Carolina; González-Parra, Emilio; Aljama, Pedro; Morales, Enrique; Cao, Mercedes; Rodríguez de Córdoba, Santiago; Praga, Manuel

    2017-03-01

    Complement dysregulation occurs in thrombotic microangiopathies (TMAs) other than primary atypical haemolytic uraemic syndrome (aHUS). A few of these patients have been reported previously to be successfully treated with eculizumab. We identified 29 patients with so-called secondary aHUS who had received eculizumab at 11 Spanish nephrology centres. Primary outcome was TMA resolution, defined by a normalization of platelet count (>150 × 10 9 /L) and haemoglobin, disappearance of all the markers of microangiopathic haemolytic anaemia (MAHA), and improvement of renal function, with a ≥25% reduction of serum creatinine from the onset of eculizumab administration. Twenty-nine patients with secondary aHUS (15 drug-induced, 8 associated with systemic diseases, 2 with postpartum, 2 with cancer-related, 1 associated with acute humoral rejection and 1 with intestinal lymphangiectasia) were included in this study. The reason to initiate eculizumab treatment was worsening of renal function and persistence of TMA despite treatment of the TMA cause and plasmapheresis. All patients showed severe MAHA and renal function impairment (14 requiring dialysis) prior to eculizumab treatment and 11 presented severe extrarenal manifestations. A rapid resolution of the TMA was observed in 20 patients (68%), 15 of them showing a ≥50% serum creatinine reduction at the last follow-up. Comprehensive genetic and molecular studies in 22 patients identified complement pathogenic variants in only 2 patients. With these two exceptions, eculizumab was discontinued, after a median of 8 weeks of treatment, without the occurrence of aHUS relapses. Short treatment with eculizumab can result in a rapid improvement of patients with secondary aHUS in whom TMA has persisted and renal function worsened despite treatment of the TMA-inducing condition.

  1. Psychiatric comorbidities in patients with Atypical Odontalgia.

    Science.gov (United States)

    Miura, Anna; Tu, Trang T H; Shinohara, Yukiko; Mikuzuki, Lou; Kawasaki, Kaoru; Sugawara, Shiori; Suga, Takayuki; Watanabe, Takeshi; Watanabe, Motoko; Umezaki, Yojiro; Yoshikawa, Tatsuya; Motomura, Haruhiko; Takenoshita, Miho; Maeda, Hidefumi; Toyofuku, Akira

    2018-01-01

    Atypical Odontalgia (AO) is a condition characterized by tooth pain with no apparent cause. Although psychiatric comorbidity seems to be very common, it has rarely been studied. To clarify the influence of psychiatric comorbidity on the clinical features in patients with AO, we retrospectively evaluated their examination records. Clinical features and psychiatric diagnoses of 383 patients with AO were investigated by reviewing patients' medical records and referral letters. Psychiatric diagnoses were categorized according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). We also analyzed visual analogue scale (VAS), self-rating depression scale (SDS), and the short-form McGill pain questionnaire (SF-MPQ) scores. Of the 383 patients with AO, 177 (46.2%) had comorbid psychiatric disorders. The most common were depressive disorders (15.4%) and anxiety disorders (10.1%). Serious psychotic disorders such as bipolar disorder (3.0%) and schizophrenia (1.8%) were rare. Dental trigger of AO was reported in 217 (56.7%) patients. There were no significant correlations between psychiatric comorbidities and most of the demographic features. Higher VAS and SDS scores, higher frequency of sleep disturbance, and higher ratings of "Fearful" and "Punishing-cruel" descriptors of the SF-MPQ were found in patients with psychiatric comorbidity. About half of AO patients had comorbid psychiatric disorders. Dental procedures are not necessarily causative factors of AO. In AO patients with comorbid psychiatric disorders, pain might have a larger emotional component than a sensory one. VAS, SDS, and SF-MPQ scores might aid in the noticing of underlying comorbid psychiatric disorders in AO patients. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  2. Clozapine versus other atypical antipsychotics for schizophrenia

    Science.gov (United States)

    Asenjo Lobos, Claudia; Komossa, Katja; Rummel-Kluge, Christine; Hunger, Heike; Schmid, Franziska; Schwarz, Sandra; Leucht, Stefan

    2014-01-01

    Background Clozapine is an atypical antipsychotic demonstrated to be superior in the treatment of refractory schizophrenia which causes fewer movement disorders. Clozapine, however, entails a significant risk of serious blood disorders such as agranulocytosis which could be potentially fatal. Currently there are a number of newer antipsychotics which have been developed with the purpose to find both a better tolerability profile and a superior effectiveness. Objectives To compare the clinical effects of clozapine with other atypical antipsychotics (such as amisulpride, aripiprazole, olanzapine, quetiapine, risperidone, sertindole, ziprasidone and zotepine) in the treatment of schizophrenia and schizophrenia-like psychoses. Search methods We searched the Cochrane Schizophrenia Groups Register (June 2007) and reference lists of all included randomised controlled trials. We also manually searched appropriate journals and conference proceedings relating to clozapine combination strategies and contacted relevant pharmaceutical companies. Selection criteria All relevant randomised, at least single-blind trials, comparing clozapine with other atypical antipsychotics, any dose and oral formulations, for people with schizophrenia or related disorders. Data collection and analysis We selected trials and extracted data independently. For dichotomous data we calculated relative risks (RR) and their 95% confidence intervals (CI) based on a random-effects model. We calculated numbers needed to treat/harm (NNT/NNH) where appropriate. For continuous data, we calculated mean differences (MD) again based on a random-effects model. Main results The review currently includes 27 blinded randomised controlled trials, which involved 3099 participants. Twelve randomised control trials compared clozapine with olanzapine, five with quetiapine, nine with risperidone, one with ziprasidone and two with zotepine. Attrition from these studies was high (overall 30.1%), leaving the interpretation

  3. Vitamin B12 deficiency from the perspective of a practicing hematologist.

    Science.gov (United States)

    Green, Ralph

    2017-05-11

    B12 deficiency is the leading cause of megaloblastic anemia, and although more common in the elderly, can occur at any age. Clinical disease caused by B12 deficiency usually connotes severe deficiency, resulting from a failure of the gastric or ileal phase of physiological B12 absorption, best exemplified by the autoimmune disease pernicious anemia. There are many other causes of B12 deficiency, which range from severe to mild. Mild deficiency usually results from failure to render food B12 bioavailable or from dietary inadequacy. Although rarely resulting in megaloblastic anemia, mild deficiency may be associated with neurocognitive and other consequences. B12 deficiency is best diagnosed using a combination of tests because none alone is completely reliable. The features of B12 deficiency are variable and may be atypical. Timely diagnosis is important, and treatment is gratifying. Failure to diagnose B12 deficiency can have dire consequences, usually neurological. This review is written from the perspective of a practicing hematologist. © 2017 by The American Society of Hematology.

  4. 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.

  5. 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.

  6. Iron-Deficiency Anemia

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  7. Iron-Deficiency Anemia

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    Full Text Available ... if you have intestinal surgery (such as gastric bypass) or a disease of the intestine (such as ... produce red blood cells. People who have gastric bypass surgery also may develop iron-deficiency anemia. This ...

  8. Iron-Deficiency Anemia

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    Full Text Available ... Safety Sleep Science and Sleep Disorders Lung Diseases Heart and Vascular Diseases Precision Medicine Activities Obesity, Nutrition, ... symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in ...

  9. Iron-Deficiency Anemia

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    Full Text Available ... NHLBI About NHLBI Home Mission and Strategic Vision Leadership Scientific Divisions Operations and Administration Advisory Committees Budget ... include poor appetite, slowed growth and development, and behavioral problems. Signs and Symptoms of Iron Deficiency Signs ...

  10. Iron-Deficiency Anemia

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  12. Iron-Deficiency Anemia

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  13. Iron-Deficiency Anemia

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  14. Iron-Deficiency Anemia

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  16. Iron-Deficiency Anemia

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  17. Iron-Deficiency Anemia

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    Full Text Available ... anemia at 1 year of age. Women and Girls Women of childbearing age may be tested for ... be screened for iron deficiency, and how often: Girls aged 12 to 18 and women of childbearing ...

  18. Iron-Deficiency Anemia

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    Full Text Available ... condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require treatment in ... Urinary tract bleeding Blood loss from severe injuries, surgery, or frequent blood drawings also can cause iron- ...

  19. Iron-Deficiency Anemia

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  20. Iron-Deficiency Anemia

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    Full Text Available ... symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in ... 18/2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  1. Iron-Deficiency Anemia

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    Full Text Available ... Digg. Share this page from the NHLBI on Facebook. Add this link to the NHLBI to my ... Deficiency Anemia article. Updated: March 26, 2014 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA ...

  2. Iron-Deficiency Anemia

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    Full Text Available ... and Blood Safety Sleep Science and Sleep Disorders Lung Diseases Heart and Vascular Diseases Precision Medicine Activities ... iron-rich protein that carries oxygen from the lungs to the rest of the body. Iron-deficiency ...

  3. Iron-Deficiency Anemia

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    Full Text Available ... leafy green vegetables like turnip greens and spinach. Treatment To Stop Bleeding If blood loss is causing ... flow. In some cases, surgery may be advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If ...

  4. Alpha-1 Antitrypsin Deficiency

    Science.gov (United States)

    ... seafood, processed soy products, nuts, seeds, beans, and peas. A healthy diet is low in sodium (salt), ... help you cope with stress. Emotional Issues and Support Living with AAT deficiency may cause fear, anxiety, ...

  5. Iron-Deficiency Anemia

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    Full Text Available ... Disorders Lung Diseases Heart and Vascular Diseases Precision Medicine Activities Obesity, Nutrition, and Physical Activity Population and ... of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require ...

  6. Vitamin D Deficiency

    Science.gov (United States)

    ... disease osteoporosis. Severe vitamin D deficiency can cause rickets in children and osteomalacia in adults. Both problems cause soft, ... The oral dose is once daily or weekly. Children with rickets or at risk of this disease may get ...

  7. Iron-Deficiency Anemia

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    Full Text Available ... need to be done in a hospital. The goals of treating iron-deficiency anemia are to treat ... and children talk about their experiences with clinical research. More Information Related Health Topics Anemia Blood Tests ...

  8. Iron-Deficiency Anemia

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    Full Text Available ... low iron levels in women. Internal bleeding (bleeding inside the body) also may lead to iron-deficiency ... a diagnosis, look for a cause, and find out how severe the condition is. Complete Blood Count ...

  9. Iron-Deficiency Anemia

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    Full Text Available ... the body. Iron-deficiency anemia usually develops over time if your body doesn't have enough iron ... because your need for iron increases during these times of growth and development. Inability To Absorb Enough ...

  10. Iron-Deficiency Anemia

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    Full Text Available ... People who have RLS often have a hard time sleeping. Iron-deficiency anemia can put children at ... Reticulocytes are young, immature red blood cells. Over time, reticulocytes become mature red blood cells that carry ...

  11. Iron-Deficiency Anemia

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    Full Text Available ... or iron supplements, when used properly, can help prevent iron-deficiency anemia in infants and young children. ... in the diet. Too much milk also may prevent children's bodies from absorbing iron from other foods. ...

  12. Iron-Deficiency Anemia

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    Full Text Available ... Health Topics Education & Awareness Resources Contact The Health Information Center Health Professionals Systematic Evidence Reviews & Clinical Practice ... and see the benefits of treatment. For more information about living with and managing iron-deficiency anemia, ...

  13. Iron-Deficiency Anemia

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    Full Text Available ... the cause and severity of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require treatment in a hospital, blood transfusions , iron ...

  14. Iron-Deficiency Anemia

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    Full Text Available ... the first prenatal visit. For pregnant women, medical care during pregnancy usually includes screening for anemia. Also, ... while checking for other problems. Specialists Involved Primary care doctors often diagnose and treat iron-deficiency anemia. ...

  15. Iron-Deficiency Anemia

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    Full Text Available ... green leafy vegetables. Eat poorly because of money, social, health, or other problems. Follow a very low- ... help prevent overdosing in children. Because recent research supports concerns that iron deficiency during infancy and childhood ...

  16. Iron-Deficiency Anemia

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    Full Text Available ... hemoglobin than normal. Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, and other ... common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't ...

  17. Iron-Deficiency Anemia

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    Full Text Available ... treat iron-deficiency anemia. These doctors include pediatricians, family doctors, gynecologists/obstetricians, and internal medicine specialists. A ... Center for Health Information Email Alerts Jobs and Careers Site Index About NHLBI National Institute of Health ...

  18. Iron-Deficiency Anemia

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    Full Text Available ... Follow a very low-fat diet over a long time. Some higher fat foods, like meat, are ... iron deficiency during infancy and childhood can have long-lasting, negative effects on brain health, the American ...

  19. Iron-Deficiency Anemia

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    Full Text Available ... Anemia What Is... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS PREVENTION LIVING WITH CLINICAL TRIALS LINKS Related ... with having iron-deficiency anemia. Prior to her diagnosis, Susan had symptoms such as tiredness, poor skin ...

  20. Iron-Deficiency Anemia

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    Full Text Available ... iron-rich protein that carries oxygen from the lungs to the rest of the body. Iron-deficiency ... 2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National Institutes ...

  1. Iron-Deficiency Anemia

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    Full Text Available ... can cause fatigue (tiredness), shortness of breath, chest pain, and other symptoms. Severe iron-deficiency anemia can ... colon cancer Regular use of aspirin or other pain medicines, such as nonsteroidal anti-inflammatory drugs (for ...

  2. Iron-Deficiency Anemia

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    Full Text Available ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ... or an inability to absorb enough iron from food. Blood Loss When you lose blood, you lose ...

  3. Iron-Deficiency Anemia

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    Full Text Available ... Infants and Young Children A baby's diet can affect his or her risk for iron-deficiency anemia. ... eat grapefruit or drink grapefruit juice. Grapefruit can affect the strength of a few medicines and how ...

  4. Iron-Deficiency Anemia

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    Full Text Available ... carry oxygen and remove carbon dioxide (a waste product) from your body. Anemia also can occur if ... Deficiency Anemia article. Updated: March 26, 2014 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA ...

  5. Iron-Deficiency Anemia

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    Full Text Available ... drawings also can cause iron-deficiency anemia. Poor Diet The best sources of iron are meat, poultry, ... also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal ...

  6. Iron-Deficiency Anemia

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    Full Text Available ... also can cause internal bleeding. Other At-Risk Groups People who get kidney dialysis treatment may develop ... and young children and women are the two groups at highest risk for iron-deficiency anemia. Special ...

  7. Iron-Deficiency Anemia

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    Full Text Available ... the signs and symptoms of iron-deficiency anemia apply to all types of anemia . Signs and Symptoms ... rapid or uneven breathing Feel your abdomen to check the size of your liver and spleen Do ...

  8. Iron-Deficiency Anemia

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    Full Text Available ... iron-deficiency anemia may require treatment in a hospital, blood transfusions , iron injections, or intravenous iron therapy. ... beans. Other lifestyle changes, such as getting enough sleep and exercising, also have helped Susan feel better. ...

  9. Iron-Deficiency Anemia

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    Full Text Available ... intestine (such as Crohn's disease or celiac disease). Prescription medicines that reduce acid in the stomach also ... specialists also may help treat iron-deficiency anemia. Medical History Your doctor will ask about your signs ...

  10. Iron-Deficiency Anemia

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    Full Text Available ... specialists also may help treat iron-deficiency anemia. Medical History Your doctor will ask about your signs ... information, go to the Health Topics Blood Transfusion article. Iron Therapy If you have severe anemia, your ...

  11. Iron-Deficiency Anemia

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    Full Text Available ... drawings also can cause iron-deficiency anemia. Poor Diet The best sources of iron are meat, poultry, ... other dark green leafy vegetables Prune juice The Nutrition Facts labels on packaged foods will show how ...

  12. Iron-Deficiency Anemia

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    Full Text Available ... Other At-Risk Groups People who get kidney dialysis treatment may develop iron-deficiency anemia. This is because blood is lost during dialysis. Also, the kidneys are no longer able to ...

  13. Iron-Deficiency Anemia

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    Full Text Available ... for iron-deficiency anemia The Centers for Disease Control and Prevention (CDC) has developed guidelines for who ... heavy menstrual flow, your doctor may prescribe birth control pills to help reduce your monthly blood flow. ...

  14. Iron-Deficiency Anemia

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    Full Text Available ... screened for iron deficiency, and how often: Girls aged 12 to 18 and women of childbearing age ... For this treatment, iron is injected into a muscle or an IV line in one of your ...

  15. Iron-Deficiency Anemia

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    Full Text Available ... factors for iron-deficiency anemia The Centers for Disease Control and Prevention (CDC) has developed guidelines for who should be ... or while checking for other problems. Specialists ... disease specialist), a gastroenterologist (a digestive system specialist), and ...

  16. Iron deficiency anemia

    National Research Council Canada - National Science Library

    Naigamwalla, Dinaz Z; Webb, Jinelle A; Giger, Urs

    2012-01-01

    .... The most important function is oxygen transport in hemoglobin. Iron deficiency anemia in dogs and cats is usually caused by chronic blood loss and can be discovered incidentally as animals may have adapted to the anemia...

  17. Iron-Deficiency Anemia

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    Full Text Available ... stomach also can interfere with iron absorption. Risk Factors Infants and Young Children Infants and young children ... blood loss during their monthly periods Other risk factors for iron-deficiency anemia The Centers for Disease ...

  18. Iron-Deficiency Anemia

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    Full Text Available ... some stages of life, such as pregnancy and childhood, it may be hard to get enough iron ... supports concerns that iron deficiency during infancy and childhood can have long-lasting, negative effects on brain ...

  19. Iron-Deficiency Anemia

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    Full Text Available ... For this treatment, iron is injected into a muscle or an IV line in one of your ... body can damage your organs. You may have fatigue (tiredness) and other symptoms of iron-deficiency anemia ...

  20. Iron-Deficiency Anemia

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    Full Text Available ... risk for iron-deficiency anemia if they're underweight or have chronic (ongoing) illnesses. Teenage girls who ... other dark green leafy vegetables Prune juice The Nutrition Facts labels on packaged foods will show how ...

  1. Iron-Deficiency Anemia

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    Full Text Available ... deficiency anemia if they're underweight or have chronic (ongoing) illnesses. Teenage girls who have heavy periods ... in your hands and feet, pale skin, chest pain, weakness, and fatigue (tiredness). If you don't ...

  2. Iron-Deficiency Anemia

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    Full Text Available ... intravenous iron therapy. Rate This Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the National Heart, Lung, and Blood ...

  3. Sleep Deprivation and Deficiency

    Science.gov (United States)

    ... adults report falling asleep during the day without meaning to at least once a month. Also, an ... Sleep deficiency also has been linked to depression, suicide, and risk-taking behavior. Children and teens who ...

  4. Iron-Deficiency Anemia

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    Full Text Available ... prevent children's bodies from absorbing iron from other foods. Children who have lead in their blood also may be at risk for iron-deficiency anemia. Lead can interfere with ...

  5. Iron-Deficiency Anemia

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    Full Text Available ... Diseases Heart and Vascular Diseases Precision Medicine Activities Obesity, Nutrition, and Physical Activity Population and Epidemiology Studies ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ...

  6. Glucose-6-phosphatase deficiency.

    OpenAIRE

    Labrune Philippe; Gajdos Vincent; Eberschweiler Pascale; Hubert-Buron Aurélie; Petit François; Vianey-Saban Christine; Boudjemline Alix; Piraud Monique; Froissart Roseline

    2011-01-01

    Abstract Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, betw...

  7. Olanzapine versus other atypical antipsychotics for schizophrenia

    Science.gov (United States)

    Komossa, Katja; Rummel-Kluge, Christine; Hunger, Heike; Schmid, Franziska; Schwarz, Sandra; Duggan, Lorna; Kissling, Werner; Leucht, Stefan

    2014-01-01

    Background In many countries of the industrialised world second generation (“atypical”) antipsychotics have become the first line drug treatment for people with schizophrenia. The question as to whether, and if so how much, the effects of the various second generation antipsychotics differ is a matter of debate. In this review we examined how the efficacy and tolerability of olanzapine differs from that of other second generation antipsychotics. Objectives To evaluate the effects of olanzapine compared to other atypical antipsychotics for people with schizophrenia and schizophrenia-like psychosis. Search methods 1. Electronic searching We searched the Cochrane Schizophrenia Group Trials Register (April 2007) which is based on regular searches of BIOSIS, CENTRAL, CINAHL, EMBASE, MEDLINE and PsycINFO. 2. Reference searching We inspected the reference of all identified studies for more trials. 3. Personal contact We contacted the first author of each included study for missing information. 4. Drug companies We contacted the manufacturers of all atypical antipsychotics included for additional data. Selection criteria We included all randomised trials that used at least single-blind (rater-blind) design, comparing oral olanzapine with oral forms of amisulpride, aripiprazole, clozapine, quetiapine, risperidone, sertindole, ziprasidone or zotepine in people with schizophrenia or schizophrenia-like psychosis. Data collection and analysis We extracted data independently. For dichotomous data we calculated relative risks (RR) and their 95% confidence intervals (CI) on an intention-to-treat basis based on a random effects model. We calculated numbers needed to treat/harm (NNT/NNH) where appropriate. For continuous data, we calculated weighted mean differences (WMD) again based on a random effects model. Main results The review currently includes 50 studies and 9476 participants which provided data for six comparisons (olanzapine compared to amisulpride, aripiprazole

  8. Risperidone versus other atypical antipsychotics for schizophrenia

    Science.gov (United States)

    Komossa, Katja; Rummel-Kluge, Christine; Schwarz, Sandra; Schmid, Franziska; Hunger, Heike; Kissling, Werner; Leucht, Stefan

    2014-01-01

    Background In many countries of the industrialised world second-generation (“atypical”) antipsychotics (SGAs) have become the first line drug treatment for people with schizophrenia. The question as to whether and if so how much the effects of the various SGAs differ is a matter of debate. In this review we examined how the efficacy and tolerability of risperidone differs from that of other SGAs. Objectives To evaluate the effects of risperidone compared with other atypical antipsychotics for people with schizophrenia and schizophrenia-like psychosis. Search methods 1. Electronic searching We searched the Cochrane Schizophrenia Group Trials Register (April 2007) which is based on regular searches of BIOSIS, CENTRAL, CINAHL, EMBASE, MEDLINE and PsycINFO. 2. Reference searching We inspected the references of all identified studies for more trials. 3. Personal contact We contacted the first author of each included study for missing information. 4. Drug companies We contacted the manufacturers of all atypical antipsychotics included for additional data. Selection criteria We included all randomised, blinded trials comparing oral risperidone with oral forms of amisulpride, aripiprazole, clozapine, olanzapine, quetiapine, sertindole, ziprasidone or zotepine in people with schizophrenia or schizophrenia-like psychosis. Data collection and analysis We extracted data independently. For dichotomous data we calculated risk ratio (RR) and their 95% confidence intervals (CI) on an intention-to-treat basis based on a random-effects model. We calculated numbers needed to treat/harm (NNT/NNH) where appropriate. For continuous data, we calculated mean differences (MD), again based on a random-effects model. Main results The review currently includes 45 blinded RCTs with 7760 participants. The number of RCTs available for each comparison varied: four studies compared risperidone with amisulpride, two with aripiprazole, 11 with clozapine, 23 with olanzapine, eleven with

  9. Presence of Phlebotomus perniciosus Atypical Form in Algeria.

    Science.gov (United States)

    Benallal, Kamel Eddine; Benikhlef, Razika; Garni, Rafik; Gassen, Brahim; Dedet, Jean-Pierre; Harrat, Zoubir

    2017-03-01

    Phlebotomus perniciosus and Phlebotomus longicuspis are two phlebotomine sand fly species morphologically similar and differing in males only by the shape of the copulatory valves which are bifurcated in P. perniciosus, tip long and tapered in P. longicuspis. A count of the median coxite setae was carried out on 208 specimens from the collections of Dedet and of Parrot, identified previously as P. longicuspis and on 38 P. perniciosus male sand flies captured during the year 2012-2013, in order to seek the presence of atypical P. perniciosus form. The analysis revealed the presence of 33/246 (13%) atypical P. perniciosus previously confused with P. longicuspis species and whose distribution is mainly located in the semi-arid and arid bioclimatic regions. This study proved for the first time the presence of atypical form of P. perniciosus in Algeria.

  10. Atypical Craniosynostosis with Torticollis and Neurological Symptoms: A Rhombencephalosynapsis Sequence

    Directory of Open Access Journals (Sweden)

    Virve Koljonen

    2009-01-01

    Full Text Available Purpose. We describe a case of 3-year-old girl with rhombencephalosynapsis, a rare cerebellar anomaly. Patient. A 3-year-old girl was admitted to our hospital due to congenital torticollis and asymmetry of face, skull and trunk. Craniosynostosis was suspected due to abnormal head shape. 3D-CT revealed closure of the sagittal suture without scaphocephalic skull. Due to atypical craniosynostosis with neurological symptoms, brain-MRI was performed revealing rhombencephalosynapsis. Results. Our patient presented with atypical craniosynostosis and balance problems, not typical for scaphocephaly. Operative treatment for craniosynotosis was not carried out because the cause of the problems was the cerebellum instead of the brain. Conclusions. Therefore, we conclude that patients with atypical craniosynostosis should be examined with brain-MRI to exclude the intracranial malformations, which 3D-CT does not reveal. Without brain-MRI, decision (not to perform surgery could have been different.

  11. Atypical presentation of HELLP syndrome: clinical case report

    Directory of Open Access Journals (Sweden)

    Juan Manuel Tobar Parra

    2017-12-01

    Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

  12. Atypical language representation in children with intractable temporal lobe epilepsy.

    Science.gov (United States)

    Maulisova, Alice; Korman, Brandon; Rey, Gustavo; Bernal, Byron; Duchowny, Michael; Niederlova, Marketa; Krsek, Pavel; Novak, Vilem

    2016-05-01

    This study evaluated language organization in children with intractable epilepsy caused by temporal lobe focal cortical dysplasia (FCD) alone or dual pathology (temporal lobe FCD and hippocampal sclerosis, HS). We analyzed clinical, neurological, fMRI, neuropsychological, and histopathologic data in 46 pediatric patients with temporal lobe lesions who underwent excisional epilepsy surgery. The frequency of atypical language representation was similar in both groups, but children with dual pathology were more likely to be left-handed. Atypical receptive language cortex correlated with lower intellectual capacity, verbal abstract conceptualization, receptive language abilities, verbal working memory, and a history of status epilepticus but did not correlate with higher seizure frequency or early seizure onset. Histopathologic substrate had only a minor influence on neuropsychological status. Greater verbal comprehension deficits were noted in children with atypical receptive language representation, a risk factor for cognitive morbidity. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. 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.

  14. Presence of Phlebotomus perniciosus Atypical Form in Algeria

    Directory of Open Access Journals (Sweden)

    Kamel Eddine Benallal

    2017-04-01

    Full Text Available Background: Phlebotomus perniciosus and Phlebotomus longicuspis are two phlebotomine sand fly species morphologically similar and differing in males only by the shape of the copulatory valves which are bifurcated in P. perniciosus, tip long and tapered in P. longicuspis.Methods: A count of the median coxite setae was carried out on 208 specimens from the collections of Dedet and of Parrot, identified previously as P. longicuspis and on 38 P. perniciosus male sand flies captured during the year 2012–2013, in order to seek the presence of atypical P. perniciosus form.Results: The analysis revealed the presence of 33/246 (13% atypical P. perniciosus previously confused with P. longicuspis species and whose distribution is mainly located in the semi-arid and arid bioclimatic regions.Conclusion: This study proved for the first time the presence of atypical form of P. perniciosus in Algeria.

  15. Presence of Phlebotomus perniciosus Atypical Form in Algeria

    Science.gov (United States)

    Benallal, Kamel Eddine; Benikhlef, Razika; Garni, Rafik; Gassen, Brahim; Dedet, Jean-Pierre; Harrat, Zoubir

    2017-01-01

    Background: Phlebotomus perniciosus and Phlebotomus longicuspis are two phlebotomine sand fly species morphologically similar and differing in males only by the shape of the copulatory valves which are bifurcated in P. perniciosus, tip long and tapered in P. longicuspis. Methods: A count of the median coxite setae was carried out on 208 specimens from the collections of Dedet and of Parrot, identified previously as P. longicuspis and on 38 P. perniciosus male sand flies captured during the year 2012–2013, in order to seek the presence of atypical P. perniciosus form. Results: The analysis revealed the presence of 33/246 (13%) atypical P. perniciosus previously confused with P. longicuspis species and whose distribution is mainly located in the semi-arid and arid bioclimatic regions. Conclusion: This study proved for the first time the presence of atypical form of P. perniciosus in Algeria. PMID:29026861

  16. The Efficacy of Acute Electroconvulsive Therapy in Atypical Depression

    Science.gov (United States)

    Husain, Mustafa M.; McClintock, Shawn M.; Rush, A. John; Knapp, Rebecca G.; Fink, Max; Rummans, Teresa A.; Rasmussen, Keith; Claassen, Cynthia; Petrides, Georgios; Biggs, Melanie M.; Mueller, Martina; Sampson, Shirlene; Bailine, Samuel H.; Lisanby, Sarah H.; Kellner, Charles H.

    2013-01-01

    Objective This study examined the characteristics and outcomes of patients with major depressive disorder (MDD), with or without atypical features, who were treated with acute bilateral electroconvulsive therapy (ECT). Method Analyses were conducted with 489 patients who met DSM-IV criteria for MDD. Subjects were identified as typical or atypical on the basis of the Structured Clinical Interview for DSM-IV obtained at baseline prior to ECT. Depression symptom severity was measured by the 24-item Hamilton Rating Scale for Depression (HAM-D24) and the 30-item Inventory of Depressive Symptomatology–Self-Report (IDS-SR30). Remission was defined as at least a 60% decrease from baseline in HAM-D24 score and a total score of 10 or below on the last 2 consecutive HAM-D24 ratings. The randomized controlled trial was performed from 1997 to 2004. Results The typical (N = 453) and atypical (N = 36) groups differed in several sociodemographic and clinical variables including gender (p = .0071), age (p = .0005), treatment resistance (p = .0014), and age at first illness onset (p < .0001) and onset of current episode (p = .0008). Following an acute course of bilateral ECT, a considerable portion of both the typical (67.1%) and the atypical (80.6%) groups reached remission. The atypical group was 2.6 (95% CI = 1.1 to 6.2) times more likely to remit than the typical group after adjustment for age, psychosis, gender, clinical site, and depression severity based on the HAM-D24. Conclusion Acute ECT is an efficacious treatment for depressed patients with typical or atypical symptom features. PMID:18278988

  17. Iron deficiency in Europe.

    Science.gov (United States)

    Hercberg, S; Preziosi, P; Galan, P

    2001-04-01

    In Europe, iron deficiency is considered to be one of the main nutritional deficiency disorders affecting large fractions of the population, particularly such physiological groups as children, menstruating women and pregnant women. Some factors such as type of contraception in women, blood donation or minor pathological blood loss (haemorrhoids, gynaecological bleeding...) considerably increase the difficulty of covering iron needs. Moreover, women, especially adolescents consuming low-energy diets, vegetarians and vegans are at high risk of iron deficiency. Although there is no evidence that an absence of iron stores has any adverse consequences, it does indicate that iron nutrition is borderline, since any further reduction in body iron is associated with a decrease in the level of functional compounds such as haemoglobin. The prevalence of iron-deficient anaemia has slightly decreased in infants and menstruating women. Some positive factors may have contributed to reducing the prevalence of iron-deficiency anaemia in some groups of population: the use of iron-fortified formulas and iron-fortified cereals; the use of oral contraceptives and increased enrichment of iron in several countries; and the use of iron supplements during pregnancy in some European countries. It is possible to prevent and control iron deficiency by counseling individuals and families about sound iron nutrition during infancy and beyond, and about iron supplementation during pregnancy, by screening persons on the basis of their risk for iron deficiency, and by treating and following up persons with presumptive iron deficiency. This may help to reduce manifestations of iron deficiency and thus improve public health. Evidence linking iron status with risk of cardiovascular disease or cancer is unconvincing and does not justify changes in food fortification or medical practice, particularly because the benefits of assuring adequate iron intake during growth and development are well established

  18. SUCCESSFUL TREATMENT FOR ATYPICAL HEMOLYTIC UREMIC SYNDROME IN A PUERPERA

    Directory of Open Access Journals (Sweden)

    O. N. Ulitkina

    2015-01-01

    Full Text Available Objective: to show the problems of differential diagnosis and treatment of atypical hemolytic-uremic syndrome in a 23-year-old patient.Results. Eculizumab (Soliris, (Alexon Pharmaceuticals Inc., USA that is a glycosylated humanized monoclonal antibody to immunoglobulins (IgG2/4k is shown to be effective in treating this disease.Conclusion. Atypical hemolytical-uremic syndrome in pregnancy is a disease, whose treatment difficulties are largely associated with the problem of differential diagnosis with thrombotic thrombocytopenic purpura and man-ifestations of multiple organ dysfunction. The treatment for this disease gives a key role to Eculizumab.

  19. 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.

  20. Atypical presentations of acute disseminated encephalomyelitis (ADEM) in HIV infection.

    Science.gov (United States)

    Naidoo, Ansuya; Paruk, Hoosain; Bhagwan, Bhupendra; Moodley, Anand

    2017-02-01

    Acute disseminated encephalomyelitis is a monophasic demyelinating disorder of the central nervous system associated with various viral infections including HIV infection. We present the findings of seven HIV-infected patients with mild to moderate immunosuppression presenting with atypical features. Four patients had a multiphasic course; three patients had tumefactive lesions, and two patients had corpus callosum lesions. Two patients with the multiphasic course also had tumefactive lesions. Their clinical and radiological findings are presented. Despite the few cases, we propose that the dysimmune process lying between marked immunosuppression (CD4  500 cells/μL) might be responsible for these atypical presentations.

  1. Atypical psychotic symptoms and Dandy-Walker variant.

    Science.gov (United States)

    Williams, Aislinn J; Wang, Zhenni; Taylor, Stephan F

    2016-10-01

    New-onset psychotic symptoms often respond well to antipsychotic treatment; however, symptoms may be difficult to treat when an underlying brain malformation is present. Here, we present a case of atypical psychotic symptoms in the context of a congenital cerebellar malformation (Dandy-Walker variant). The patient ultimately improved with paliperidone palmitate after multiple antipsychotic medication trials (both oral and one long-acting injectable) were ineffective. Neuroimaging may provide valuable diagnostic and prognostic information in cases of new-onset psychosis with atypical features and treatment resistance, even in the absence of neurologic signs and symptoms.

  2. Peritoneal Dialysis-Related Peritonitis: Atypical and Resistant Organisms.

    Science.gov (United States)

    Cho, Yeoungjee; Struijk, Dirk Gijsbert

    2017-01-01

    Peritoneal dialysis (PD)-related peritonitis remains to be one of the most frequent and serious complications of PD. In this study, existing literature has been reviewed on PD peritonitis caused by atypical organisms and antibiotic resistant organisms and their impact on patient outcomes. Although uncommon, delay in recognition of PD peritonitis caused by atypical organisms can lead to poor patient outcomes if there is a delay in diagnosis and implementation of appropriate treatment. There is also a large difference in prevalence of antibiotic-resistant infections across the world with variable impact on reported patient-level outcomes. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. THE HUMAN FUMARYLACETOACETATE GENE : CHARACTERIZATION OF RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS AND IDENTIFICATION OF HAPLOTYPES IN TYROSINEMIA TYPE-1 AND PSEUDODEFICIENCY

    NARCIS (Netherlands)

    ROOTWELT, H; KVITTINGEN, EA; HOIE, K; AGSTERIBBE, E; HARTOG, M; BERGER, R

    Deficiency of human fumarylacetoacetase (FAH) activity results in hereditary tyrosinemia type I. Using the restriction enzymes BglII, KpnI and StuI and a 1.3-kb cDNA probe for the FAH gene, we have found 6 restriction fragment length polymorphisms (RFLPs). These RFLPs were utilised in 3 tyrosinemia

  4. 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...

  5. Deficiências de minerais Mineral deficiencies

    Directory of Open Access Journals (Sweden)

    Silvia Maria Franciscato Cozzolino

    2007-08-01

    Full Text Available Neste artigo procuramos relatar a situação mundial e brasileira com relação aos micronutrientes, em especial sobre os minerais. Os elementos químicos minerais desempenham funções de grande importância no organismo humano, sendo indispensáveis para o desenvolvimento e a saúde dos indivíduos. Ainda não existe uma avaliação global do estado nutricional dos indivíduos em relação a esses micronutrientes no Brasil, mas os estudos existentes apontam para a necessidade do acompanhamento das tendências alimentares que poderiam levar às suas deficiências com conseqüências adversas para a saúde da população e o desenvolvimento do nosso país.In this paper we will try to report the Brazilian micronutrients status, as well as in worldwide, specifically for minerals. Minerals have major importance on human body, becoming indispensable for the development and health of individuals. There is not yet an integral assessment of micronutrient status in the Brazilian subjects, but there are some studies pointing to the need of observation of alimentary tendencies that might lead to deficiencies, with adverse consequences to the population’s health and the development of our country

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

    OpenAIRE

    Brett Silverstein; Jules Angst

    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 appetit...

  7. Vitamin deficiencies in cattle.

    Science.gov (United States)

    Frye, T M; Williams, S N; Graham, T W

    1991-03-01

    Deficiencies of vitamins A, D, K, E and thiamin can cause severe limitations in beef production. In particular, vitamin A and E can be common causes of lost profit, secondary to limitations of reproductive and growth potential. Prolonged dry periods will reduce available A and E in pasture forage, as can ensiling and prolonged storage of harvested feedstuffs. Polioencephalomalacia is a thiamin responsive disorder, associated with high concentrate feeding and lush pastures. Antimetabolites, such as amprolium, will cause thiamine deficiency when fed in excess. Recent information has shown improved performance with supplemental beta carotene and niacin. The positive responses in reproductive performance, noted with cattle fed supplemental beta carotene, was independent of vitamin A. Supplementation of vitamins above National Research Council recommendations can be justified. However, proper evaluation of feed and animal status, and documentation of a response to supplementation is necessary before diagnosing deficiencies of specific nutrients.

  8. Antepartum Ornithine Transcarbamylase Deficiency

    Directory of Open Access Journals (Sweden)

    Hitoshi Nakajima

    2014-11-01

    Full Text Available Ornithine transcarbamylase deficiency (OTCD is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Plasma amino acid and urine organic acid analysis revealed OTCD. After combined modality treatment with arginine, sodium benzoate and hemodialysis, the patient's plasma ammonia level stabilized and her mental status returned to normal. At last she recovered without any damage left.

  9. Role of laboratory in rapid diagnosis of atypical mumps

    Directory of Open Access Journals (Sweden)

    KE Vandana

    Full Text Available Fairly large number of mumps virus infections present atypically without parotitis leading to delay in diagnosis and increased morbidity. Awareness of such presentations and inclusion of serological test for detecting IgM-specific antibodies could help in solving diagnostic dilemma, especially in unvaccinated individuals from developing countries.

  10. Atypical Chikungunya during pregnancy: Report of the Venezuela final experience

    Directory of Open Access Journals (Sweden)

    Ana Carvajal

    2017-01-01

    Full Text Available Introduction Chikungunya virus (CHIKV is an emerging arbovirus in Latin America and the Caribbean. The virus was detected in the Caribbean territory, at the end of 2013 for the first time. It is known that 1 to 2 % of patients will show atypical symptoms. Methods Three cases of pregnant women with atypical Chikungunya virus are described taking into account epidemiological variables, clinical features, pregnancy progress and laboratory testing parameters. Results Three pregnant women with atypical CHIKV confirmed by RT‐PCR were included. All of them were included at the ICU because of a life‐ threatening disease, 2 of the pregnancies were resolved by caesarean, one at term with a newborn with typical CHIKV and the other one at the 25 week of pregnancy, this result in a stillborn and a neonatal death. Conclusion Chikungunya fever during pregnancy can show atypical and severe course, with adverse evolution of pregnancy and vertical transmission of the infection. We recommend to maximize the medical care in pregnant women with suspicion of CHIKV infection.

  11. Diagnosis and management of atypically presenting slowly-leaking ...

    African Journals Online (AJOL)

    Background: An ectopic pregnancy is a common cause of morbidity and occasionally of mortality in women of reproductive age. Its diagnosis can be difficult with an atypical presentation as the classic symptoms of abdominal pain, amenorrhoea and vaginal bleeding are seen in 50% of women presenting with ectopic ...

  12. Heterogeneous photocatalysis for selected atypical antipsychotic removal from river waters

    OpenAIRE

    Regulska, El?bieta; Karpi?ska, Joanna

    2011-01-01

    Heterogeneous photocatalysis of selected atypical antipsychotic, namely olanzapine, was examined. Photocatalytic degradation of above mentioned pharmaceutic was investigated in deionized and river water solution in the presence of titanium dioxide as a photocatalyst. River water samples were collected from Narew and Marycha, which run in the east of Poland. Studied irradiation sources included ultraviolet radiation and simulated solar light. Photodegradation efficiency and the presen...

  13. Use of atypical antipsychotics in the elderly: a clinical review

    Directory of Open Access Journals (Sweden)

    Gareri P

    2014-08-01

    Full Text Available Pietro Gareri,1 Cristina Segura-García,2 Valeria Graziella Laura Manfredi,1 Antonella Bruni,2 Paola Ciambrone,2 Gregorio Cerminara,2 Giovambattista De Sarro,2 Pasquale De Fazio2 1Elderly Health Care, Azienda Sanitaria Provinciale Catanzaro, Catanzaro, Italy; 2Department of Health Sciences, University “Magna Græcia” of Catanzaro, Catanzaro, Italy Abstract: The use of atypical antipsychotic drugs in the elderly has become wider and wider in recent years; in fact, these agents have novel receptor binding profiles, good efficacy with regard to negative symptoms, and reduced extrapyramidal symptoms. However, in recent years, the use of both conventional and atypical antipsychotics has been widely debated for concerns about their safety in elderly patients affected with dementia and the possible risks for stroke and sudden death. A MEDLINE search was made using the words elderly, atypical antipsychotics, use, schizophrenia, psychosis, mood disorders, dementia, behavioral disorders, and adverse events. Some personal studies were also considered. This paper reports the receptor binding profiles and the main mechanism of action of these drugs, together with their main use in psychiatry and the possible adverse events in elderly people. Keywords: atypical antipsychotics, dementia, elderly, psychosis, mood disorders, side effects

  14. [Atypical sites of metastatic renal carcinoma. Literature review].

    Science.gov (United States)

    Pérez Fentes, D A; Blanco Parra, M; Toucedo Caamaño, V; Lema Grille, J; Cimadevila García, A; Villar Núñez, M

    2005-01-01

    To review in the literature atypical sites of metastatic renal cell carcinoma, its onset, clinical features, diagnosis, treatment and prognosis. To review, using Medline database, atypical sites of metastatic renal cell carcinoma in the last five years Spanish literature. There have been published 15 spanish articles about atypical metastatic renal cell carcinoma in the last five years. Most patients were male with a mean age of 62,3 years and methacronous metastases. Imaging and pathological diagnosis. Main sites: ocular, renal graft, larynx, suprarenal, brain, penis, gastric and pancreatic. Surgical treatment if the surgeon is able to remove the lesion. Inmunotherapy and radiotherapy in the rest of cases. Renal cell carcinoma represents about 3% of all adult malignancy neoplasms. Its metastatic sites, in order of frequency, are lung, bone and liver, whether synchronic or methacronic. Its location, clinical features, onset, evolution and prognosis is very variable. Individualized diagnostic and therapeutic approach, according to prognostic factors. The knowledge of this atypical sites in patients with renal cell carcinoma in the past can lead us to an earlier diagnosis and treatment which could change the evolution of the illness.

  15. Strategies in an Arts Program for Adults with Atypical Communication

    Science.gov (United States)

    Lukac, Christina

    2017-01-01

    The purpose of this study was to observe and implement strategies and adaptations in an arts program for adults with atypical communication due to developmental and intellectual disabilities. This study was conducted in the field using an action research approach with triangulated methods of data collection including semi-structured interviews,…

  16. Atypical vessels as an early sign of intracardiac myxoma?

    Science.gov (United States)

    Dübel, Hans-Peter; Knebel, Fabian; Gliech, Volker; Konertz, Wolfgang; Rutsch, Wolfgang; Baumann, Gert; Borges, Adrian Constantin

    2004-01-01

    We report on a woman with previously unknown left atrial myxoma, who underwent percutaneous coronary intervention. 45 months after the initial coronary angiography, echocardiography demonstrated a large atrial myxoma, which was not seen echocardiographically before. The retrospective analysis of the pre-intervention coronary angiography revealed atypical vessels in the atrial septum, which are interpreted as early signs of myxoma. PMID:15310408

  17. CASE REPORT CASE Atypical tuberculosis of the knee joint CASE ...

    African Journals Online (AJOL)

    TB caused by atypical mycobacteria is rare; instead, it is predomi- nantly a synovial disease affecting the tendon sheaths rather than bone. Predisposing factors are immunocompromised individuals, including the elderly, alcoholics, those with HIV, diabetes mellitus, malnutrition and other chronic debilitating illnesses, and ...

  18. [HL-A W27 antigen and atypical rheumatic pelvispondylitis].

    Science.gov (United States)

    Sany, J; Serre, H; Seignalet, J

    1976-02-01

    The authors report 26 cases of atypical inflammatory rheumatism in which the discovery of HL-A W27 antigen indicated the possibility of atypical ankylosing spondylarthritis. These patients included 17 men and 9 women with an average age of 35.6 years. The clinical symptoms included :--pelvic or vetebral signs alone in 8 cases,--pelvic or vertebral signs combined with peripheral inflammatory rheumatism, the latter being always cleaarly evident, in 9 cases,--extravertebral signs alone without any involvement of the vertebral column or of the sacroiliac joints in 9 cases (8 cases of peripheral inflammatory rheumatism, 1 case of talalgia). The vertebral radiograms were normal in 84 percent of cases. The sacroiliac joints were clear radiologically in 65 percent of cases. In the other cases the lesions, generally unilateral, were extremely discrete. In all the cases, the Waaler-Rose reaction was negative. The therapeutic test with non-hormonal anti inflammatory products were generally positive. The evolution of the condition confirmed the diagnosis of rheumatic pelvispondylitis in 2 cases. The patients have been under observation for insufficient time to be sure whether all the cases presented represent authentic cases of ankylosing spondylarthritis that were at first atypical. The authors emphasize the high percentage of female cases (38 percent) the high frequency of extra-vertebral manifestations. They also emphasize the value of looking for HL-A W27 antigen in patients with atypical inflammatory rheumatism.

  19. Nonconvulsive Status Epilepticus Resembling Clinical Absence with Atypical EEG Pattern

    Directory of Open Access Journals (Sweden)

    Channaiah Srikanth Mysore

    2017-01-01

    Full Text Available Objective. We are reporting two cases: a patient with steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT and another patient with secondary progressive multiple sclerosis (SPMS, both presenting with altered mental status (AMS and later diagnosed with nonconvulsive atypical absence status epilepticus (AS, with atypical EEG changes. Methods. A report of two cases. Results. A patient with history of SREAT and the other with SPMS had multiple admissions due to AMS. For both, EEG revealed the presence of a high voltage generalized sharply contoured theta activity. A diagnosis of NCSE with clinical features of AS was made based on both clinical and EEG features. There was significant clinical and electrographic improvement with administration of levetiracetam for both patients in addition to sodium valproate and Solumedrol for the SREAT patient. Both patients continued to be seizure free on follow-up few months later. Conclusions. This is a report of two cases of atypical AS, with atypical EEG, in patients with different neurological conditions. Prompt clinical and EEG recovery occurred following appropriate medical treatment. We think that this condition might be underreported and could significantly benefit from prompt treatment when appropriately diagnosed.

  20. Fibrolipomatous hamartoma in the foot: atypical MR imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Breuseghem, I. van; Pans, S.; Geusens, E.; Brys, P. [Department of Radiology, University Hospitals Leuven, Herestraat 49, 3000, Leuven (Belgium); Sciot, R. [Department of Pathology, University Hospitals Leuven (Belgium); Wever, I. de [Department of Oncological Surgery, University Hospitals Leuven (Belgium)

    2003-11-01

    Lipomatosis of a nerve is a well-known but uncommon entity mostly seen in the median nerve. Magnetic resonance imaging (MRI) has been shown to provide pathognomonic features, obviating the need for diagnostic biopsy. We present a case of lipomatosis of a branch of the medial plantar nerve with an atypical appearance on magnetic resonance imaging. (orig.)

  1. Comparing the side effect profile of the Atypical

    African Journals Online (AJOL)

    antipsychotics have greater efficacy (especially for negative symptoms) and fewer EPSE when compared to the typical antipsychotics. Given the lack of studies directly comparing these agents, we used the Physician Desk Reference (PDR) to calculate the treatment emergent placebo adjusted side effects for these atypical ...

  2. Early Freezing of Gait: Atypical versus Typical Parkinson Disorders

    Directory of Open Access Journals (Sweden)

    Abraham Lieberman

    2015-01-01

    Full Text Available In 18 months, 850 patients were referred to Muhammad Ali Parkinson Center (MAPC. Among them, 810 patients had typical Parkinson disease (PD and 212 had PD for ≤5 years. Among the 212 patients with early PD, 27 (12.7% had freezing of gait (FOG. Forty of the 850 had atypical parkinsonism. Among these 40 patients, all of whom had symptoms for ≤5 years, 12 (30.0% had FOG. FOG improved with levodopa in 21/27 patients with typical PD but did not improve in the 12 patients with atypical parkinsonism. FOG was associated with falls in both groups of patients. We believe that FOG unresponsive to levodopa in typical PD resembles FOG in atypical parkinsonism. We thus compared the 6 typical PD patients with FOG unresponsive to levodopa plus the 12 patients with atypical parkinsonism with the 21 patients with typical PD responsive to levodopa. We compared them by tests of locomotion and postural stability. Among the patients with FOG unresponsive to levodopa, postural stability was more impaired than locomotion. This finding leads us to believe that, in these patients, postural stability, not locomotion, is the principal problem underlying FOG.

  3. Hereditary atypical retinitis pigmentosa: case report | Omoti | Annals ...

    African Journals Online (AJOL)

    This report presents four generations of hereditary atypical (pericentric) retinitis pigmentosa in an Itsekiri family of Warri, Delta state of Nigeria. The patients presented with nyctalopia, waxy disc pallor, arteriolar attenuation, pigment deposits around the optic nerve and visual field loss. The cases were typically mild with ...

  4. 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...

  5. Atypical teratoid/rhabdoid tumour in a supratentorial location

    African Journals Online (AJOL)

    cerebro spinal fluid seeding, as in our second patient,[4] which led to their death. e entire CNS must therefore be imaged at presentation to identify subarachnoid spread of the tumour. e differential diagnosis for atypical teratoid/rhabdoid tumour includes. PNET, medulloblastoma, high-grade glioma and teratoma.[1,3,6].

  6. Educational Needs and Causes of False Diagnosis of Atypical ...

    African Journals Online (AJOL)

    The entity of atypical squamous cells of undetermined significance (ASCUS) in The Bethesda System 2001 for reporting cervical cytology is characterized by equivocal diagnosis, poor reproducibility and debatable management. This retrospective study was done to analyse the causes of false ASCUS if any and identify the ...

  7. Atypical presentation of systemic lupus erythematosus in a west ...

    African Journals Online (AJOL)

    Systemic lupus erythematosus (SLE) is a chronic, autoimmune multi-system disorder. About seventy to ninety percent of all cases of SLE occur in women. Although the disease is common in black young women residing in Europe and North America, it is reputed to be a very rare diagnosis in West Africa. A case of atypical ...

  8. Atypical tuberculosis of the knee joint | Albuquerque-Jonathan | SA ...

    African Journals Online (AJOL)

    (TB) of the knee joint, caused by Mycobacterium kansasii. Osteoarticular TB caused by atypical mycobacteria is rare; instead, it is predominantly a synovial disease affecting the tendon sheaths rather than bone. Predisposing factors are immunocompromised individuals, including the elderly, alcoholics, those with HIV, ...

  9. Atypical Localizations of Hydatid Disease: Experience from a Single ...

    African Journals Online (AJOL)

    Departments of General Surgery, 1Radiodiagnosis and Imaging and 2Neurosurgery, Sheri Kashmir Institute of Medical. Sciences, Soura, Srinagar, Jammu and ... development of hydatidosis at the primary sites. KEYWORDS: Atypical locations ..... Conflict of Interest: None declared. 24. Senyuz OF, Yesildag E, Celayir S.

  10. Grid Keratotomy for Treatment of Atypical Presenting Indolent ...

    African Journals Online (AJOL)

    Corneal ulcers are one of the highest causes of vision impairment in dogs. The Boxer breed is particularly predisposed to recurrent and refractory corneal ulcers (Whitley and Gigler, 1999). In this report we present an interesting case of indolent corneal ulcer in a Boxer with atypical clinical manifestation and features, and its ...

  11. Atypical basic movement kinematics in autism spectrum conditions

    Science.gov (United States)

    Blakemore, Sarah-Jayne; Press, Clare

    2013-01-01

    Individuals with autism spectrum conditions have difficulties in understanding and responding appropriately to others. Additionally, they demonstrate impaired perception of biological motion and problems with motor control. Here we investigated whether individuals with autism move with an atypical kinematic profile, which might help to explain perceptual and motor impairments, and in principle may contribute to some of their higher level social problems. We recorded trajectory, velocity, acceleration and jerk while adult participants with autism and a matched control group conducted horizontal sinusoidal arm movements. Additionally, participants with autism took part in a biological motion perception task in which they classified observed movements as ‘natural’ or ‘unnatural’. Results show that individuals with autism moved with atypical kinematics; they did not minimize jerk to the same extent as the matched typical control group, and moved with greater acceleration and velocity. The degree to which kinematics were atypical was correlated with a bias towards perceiving biological motion as ‘unnatural’ and with the severity of autism symptoms as measured by the Autism Diagnostic Observation Schedule. We suggest that fundamental differences in movement kinematics in autism might help to explain their problems with motor control. Additionally, developmental experience of their own atypical kinematic profiles may lead to disrupted perception of others’ actions. PMID:23983031

  12. Update on diffusion MRI in Parkinson's disease and atypical parkinsonism

    NARCIS (Netherlands)

    Meijer, F.J.A.; Bloem, B.R.; Mahlknecht, P.; Seppi, K.; Goraj, B.

    2013-01-01

    Differentiating Parkinson's disease (PD) from other types of neurodegenerative atypical parkinsonism (AP) can be challenging, especially in early disease stages. Routine brain magnetic resonance imaging (MRI) can show atrophy or signal changes in several parts of the brain with fairly high

  13. Vitamin B12 deficiency

    DEFF Research Database (Denmark)

    Green, Ralph; Allen, Lindsay H; Bjørke-Monsen, Anne-Lise

    2017-01-01

    Vitamin B12 (B12; also known as cobalamin) is a B vitamin that has an important role in cellular metabolism, especially in DNA synthesis, methylation and mitochondrial metabolism. Clinical B12 deficiency with classic haematological and neurological manifestations is relatively uncommon. However...... remain debated. Management depends on B12 supplementation, either via high-dose oral routes or via parenteral administration. This Primer describes the current knowledge surrounding B12 deficiency, and highlights improvements in diagnostic methods as well as shifting concepts about the prevalence, causes...

  14. Multiple sulfatase deficiency.

    Science.gov (United States)

    Soong, B W; Casamassima, A C; Fink, J K; Constantopoulos, G; Horwitz, A L

    1988-08-01

    Multiple sulfatase deficiency is an inherited disorder characterized by a deficiency of several sulfatases and the accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids. The clinical manifestations represent the summation of two diseases: late infantile metachromatic leukodystrophy and mucopolysaccharidosis. We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: short stature, microcephaly, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and ataxia. We discuss the importance of measuring the sulfatase activities in the leukocytes, and the instability of sulfatases in the cultured skin fibroblasts.

  15. Clinical Profile of Atypical Manifestations of Dengue Fever.

    Science.gov (United States)

    Pothapregada, Sriram; Kamalakannan, Banupriya; Thulasingam, Mahalakshmy

    2016-06-01

    To study the clinical profile and outcome of the atypical manifestations of dengue fever in children. All children (0-12 y of age) diagnosed and confirmed as dengue fever at a tertiary care hospital at Puducherry, between the 1st of August 2012 and January 31st 2015 were reviewed retrospectively from hospital case records as per the revised World Health Organization (WHO) guidelines 2011 for dengue fever. The diagnosis was confirmed by NS1 antigen-based ELISA test or dengue serology for IgM and IgG antibodies and the data was analyzed using SPSS 16.0 statistical software. Out of 254 children admitted with dengue fever, non-severe dengue and severe dengue were seen in 62.6 % and 37.4 % respectively. Atypical manifestations were seen in 106 cases (41.7 %). Mean age of presentation was 6.9(3.3) y. M: F ratio was 1.2:1. The common manifestations of severe dengue infection were shock (37.4 %), bleeding (20.1 %) and multi-organ dysfunction (2.4 %). The most common atypical manifestations of dengue fever were lymphadenopathy (41.7 %), splenomegaly (21.2 %), biphasic fever (18.1 %), hepatitis (11.4 %), febrile diarrhea (6.3 %), refractory shock (2.4 %) and impaired consciousness (1.9 %). The other atypical manifestations present were portal hypertension, acalculous cholecystitis, appendicitis, acute respiratory distress syndrome (ARDS), myocarditis, pericardial effusion, paroxysmal supraventricular tachycardia (PSVT), myositis, acute kidney injury (AKI), hemophagocytic syndrome and disseminated intravascular coagulopathy (DIC). Platelet count did not always correlate well with the severity of bleeding. There were six deaths (2.4 %) and out of them four presented with impaired consciousness (66.6 %). The common causes for poor outcome were multiorgan failure, encephalopathy and refractory shock. The atypical manifestations of dengue fever are no more a rare entity. Clinicians should have a high index of suspicion and vigilance for atypical manifestations of

  16. Iodine Deficiency and Human Development

    Directory of Open Access Journals (Sweden)

    M A Sviridonova

    2014-03-01

    Full Text Available Iodine is а vital microelements that are essential for the normal human development and functions. Iodine deficiency is a global problem: about 2 billion individuals worldwide suffer from a lack of iodine. Despite goiter is the most visually noticeable manifestation of iodine deficiency, the most significant consequence of the iodine deficiency is impaired neurodevelopment, particularly early in life. Moreover, moderate to severe iodine deficiency increases the risk of spontaneous abortion, low birth weight and infant mortality. Babies in utero affected by iodine deficiency are at increased risk of mental developmental disorders, cretinism is their extreme degree. In addition, moderate to severe iodine deficiency in childhood negatively affects somatic growth. Iodine deficiency compensation improves cognitive and motor function in children. Iodine prophylaxis of deficient populations is an extremely effective approach to reduce the substantial adverse effects of iodine deficiency throughout the life cycle.

  17. 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).

  18. 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

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that carries oxygen ... red blood cells it does make have less hemoglobin than normal. Iron-deficiency anemia can cause fatigue ( ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Every 5 to 10 years. Women who have risk factors for iron deficiency: Once a year. Pregnant women: At the first prenatal visit. For pregnant women, medical care during pregnancy usually includes screening for anemia. Also, your doctor ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other ... poorly because of money, social, health, or other problems. Follow a very low-fat diet over a ...

  2. Iron-Deficiency Anemia

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    Full Text Available ... deficiency anemia if they're underweight or have chronic (ongoing) illnesses. Teenage girls who have heavy periods ... because blood is lost during dialysis. Also, the kidneys are no longer able to make ... Centers for Disease Control and Prevention (CDC) has developed guidelines for ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-rich foods in the diet. Too much milk also may prevent children's bodies from absorbing iron from other foods. Children who have lead in their blood also may be at risk for iron-deficiency anemia. Lead can interfere with the body's ability to make hemoglobin. Lead may get into the body from ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... also may help treat iron-deficiency anemia. Medical History Your doctor will ask about your signs and symptoms and any past problems you've had with anemia or low iron. He or she also may ask about your diet and whether you're taking any medicines. If ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Site Health Topics News & Resources Intramural Research ... Is Iron-deficiency anemia is a common, easily treated condition that occurs if you don't have enough iron in your body. Low iron levels usually are due to blood loss, ...

  6. Deficiency Report Management System

    Science.gov (United States)

    1989-09-28

    The Customer Feedback Office of the Product Assurance Directorate, MICOM has the mission to manage and analyze data in the Deficiency Reporting...capability within the Customer Feedback Office (CFO) of the MICOM Product Assurance Directorate for government comment. The objective of this program is

  7. Partial Biotinidase Deficiency

    OpenAIRE

    J Gordon Millichap

    1990-01-01

    The symptoms, biochemical features and inheritance pattern of partial biotinidase deficiency have been studied at the Departments of Human Genetics and Pediatrics, Medical College of Virginia, Richmond, VA; the State Laboratory Institute, Massachusetts Department of Public Health; Massachusetts General Hospital, Boston; the Lincoln Clinic, NB; and the Division of Human Genetics, university of Maryland School of Medicine, Baltimore.

  8. Iodine-deficiency disorders

    NARCIS (Netherlands)

    Zimmermann, M.B.; Jooste, P.L.; Pandav, C.S.

    2008-01-01

    billion individuals worldwide have insufficient iodine intake, with those in south Asia and sub-Saharan Africa particularly affected. Iodine deficiency has many adverse effects on growth and development. These effects are due to inadequate production of thyroid hormone and are termed

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Activity Population and Epidemiology Studies Women’s Health All Science A-Z ... usually are due to blood loss, poor diet, or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... doctor may ask whether you might be pregnant. Physical Exam Your doctor will do a physical exam to look for signs of iron-deficiency ... remove the growth. If you have heavy menstrual flow, your doctor may prescribe birth control pills to ...

  11. Alpha-1 antitrypsin deficiency

    Science.gov (United States)

    ... Tools About MedlinePlus Show Search Search MedlinePlus GO GO About MedlinePlus Site Map FAQs Customer Support Health Topics Drugs & Supplements Videos & Tools Español You Are Here: Home → Medical Encyclopedia → Alpha-1 antitrypsin deficiency URL of this page: //medlineplus. ...

  12. Vitamin B12 deficiency

    Science.gov (United States)

    Vitamin B12 (B12; also known as cobalamin) is a B vitamin that has an important role in cellular metabolism, especially in DNA synthesis, methylation and mitochondrial metabolism. Clinical B12 deficiency with classic haematological and neurological manifestations is relatively uncommon. However, sub...

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... hospital, blood transfusions , iron injections, or intravenous iron therapy. Causes Not having enough iron in your body causes iron-deficiency anemia. Lack of iron usually is due to blood loss, poor diet, or an inability to absorb enough iron from ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... blood transfusions , iron injections, or intravenous iron therapy. Rate This Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... who have iron-deficiency anemia develop restless legs syndrome (RLS). RLS is a disorder that causes a ... Topics Anemia Blood Tests Blood Transfusion Restless Legs Syndrome Other Resources Non-NHLBI Resources Anemia (MedlinePlus) "Dietary ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... the body. Iron-deficiency anemia usually develops over time if your body doesn't have enough iron ... Institutes of Health—shows how Susan, a full-time worker and student, has coped with having iron- ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... woman's risk for a premature or low-birth-weight baby. Adults Who Have Internal Bleeding Adults who have internal bleeding, such as intestinal bleeding, can develop iron-deficiency anemia due to blood loss. Certain conditions, such as colon cancer and bleeding ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... as larger, full-term infants. Iron-fortified baby food or iron supplements, when used properly, can help prevent iron-deficiency ... Syndrome Other Resources Non-NHLBI Resources Anemia (MedlinePlus) "Dietary Supplement Fact Sheet: Iron" (Office of Dietary Supplements, National ...

  19. Glucose-6-phosphate dehydrogenase deficiency

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000528.htm Glucose-6-phosphate dehydrogenase deficiency To use the sharing features on this page, please enable JavaScript. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a condition ...

  20. Genetics Home Reference: transcobalamin deficiency

    Science.gov (United States)

    ... PH, Nordwall M, Hoffmann-Lücke E, Sorensen BS, Nexo E. Transcobalamin deficiency caused by compound heterozygosity for ... Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA. Transcobalamin II deficiency at birth. ...

  1. Genetics Home Reference: proopiomelanocortin deficiency

    Science.gov (United States)

    ... due to pomc deficiency Orphanet: Obesity due to pro-opiomelanocortin deficiency Patient Support and Advocacy Resources (4 ... HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, ...

  2. Growth Hormone Deficiency in Children

    Science.gov (United States)

    ... c m y one in Children What is growth hormone deficiency? Growth hormone deficiency (GHD) is a rare condition in which the body does not make enough growth hormone (GH). GH is made by the pituitary gland, ...

  3. Growth Hormone Deficiency in Adults

    Science.gov (United States)

    ... Balance › Growth Hormone Deficiency in Adults Patient Guide Growth Hormone Deficiency in Adults June 2011 Download PDFs English ... depression, or moodiness What are the benefits of growth hormone therapy? Growth hormone treatment involves injections (shots) of ...

  4. Clinical utilization of atypical antipsychotics in pregnancy and lactation.

    Science.gov (United States)

    Gentile, Salvatore

    2004-01-01

    To analyze the available literature regarding the safety of atypical antipsychotics in pregnancy and lactation in order to recommend evidence-based strategies for pharmacologic management of psychosis in these conditions. We summarized the results from articles identified via MEDLINE/PubMed/TOXNET (1993-January 31, 2004), using the key terms pregnancy, lactation, breast-feeding, human milk, psychotropic drugs, atypical antipsychotics, olanzapine, quetiapine, risperidone, clozapine, ziprasidone, and aripiprazole. Retrospective studies, clinical observations, and case reports regarding the 6 atypical antipsychotics mentioned above were selected and analyzed. Extensive manual review of pertinent journals and textbooks was also performed. Reviewed studies show that olanzapine and clozapine apparently do not increase the teratogenic risk if administered to pregnant women, while evidence on quetiapine, risperidone, aripiprazole, and ziprasidone is still limited. In contrast, available information is not able to exclude unwanted serious effects associated with the use of all atypical antipsychotics on mother-infant dyads. Furthermore, more than a few studies suggest increased hyperglycemic risk for pregnant women related to atypical antipsychotic therapy during gestation. Finally, published evidence about the effects on long-term infant neurodevelopment of drug exposure through both placenta and breast milk is represented only by sporadic case reports. It is well known that potential consequences of an untreated psychotic episode may be severe and may lead to the mother attempting suicide and/or infanticide. For these reasons, clinicians need to help mothers weigh both fetal and neonatal risks of exposure to drugs against the potential risk they and their infant may incur if the psychiatric illness is not treated. On the other hand, atypical antipsychotics in pregnancy and breast-feeding do not show evident advantages in safety when compared with typical neuroleptic

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

    Directory of Open Access Journals (Sweden)

    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.

  6. Iron deficiency and cognitive functions

    Directory of Open Access Journals (Sweden)

    Jáuregui-Lobera I

    2014-11-01

    Full Text Available Ignacio Jáuregui-Lobera Department of Nutrition and Bromatology, Pablo de Olavide University, Seville, Spain Abstract: Micronutrient deficiencies, especially those related to iodine and iron, are linked to different cognitive impairments, as well as to potential long-term behavioral changes. Among the cognitive impairments caused by iron deficiency, those referring to attention span, intelligence, and sensory perception functions are mainly cited, as well as those associated with emotions and behavior, often directly related to the presence of iron deficiency anemia. In addition, iron deficiency without anemia may cause cognitive disturbances. At present, the prevalence of iron deficiency and iron deficiency anemia is 2%–6% among European children. Given the importance of iron deficiency relative to proper cognitive development and the alterations that can persist through adulthood as a result of this deficiency, the objective of this study was to review the current state of knowledge about this health problem. The relevance of iron deficiency and iron deficiency anemia, the distinction between the cognitive consequences of iron deficiency and those affecting specifically cognitive development, and the debate about the utility of iron supplements are the most relevant and controversial topics. Despite there being methodological differences among studies, there is some evidence that iron supplementation improves cognitive functions. Nevertheless, this must be confirmed by means of adequate follow-up studies among different groups. Keywords: iron deficiency, anemia, cognitive functions, supplementation

  7. Atypical Antipsychotics and Inverse Agonism at 5-HT2 Receptors

    Science.gov (United States)

    Sullivan, Laura C.; Clarke, William P.; Berg, Kelly A.

    2017-01-01

    It is now well accepted that receptors can regulate cellular signaling pathways in the absence of a stimulating ligand, and inverse agonists can reduce this ligand-independent or “constitutive” receptor activity. Both the serotonin 5-HT2A and 5-HT2C receptors have demonstrated constitutive receptor activity in vitro and in vivo. Each has been identified as a target for the treatment of schizophrenia. Further, most, if not all, atypical antipsychotic drugs have inverse agonist properties at both 5-HT2A and 5-HT2C receptors. This paper describes our current knowledge of inverse agonism of atypical antipsychotics at 5-HT2A/2C receptor subtypes in vitro and in vivo. Exploiting inverse agonist properties of antipsychotic drugs may provide new avenues for drug development. PMID:26044975

  8. 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.

  9. Transmission of atypical scrapie to homozygous ARQ sheep.

    Science.gov (United States)

    Okada, Hiroyuki; Miyazawa, Kohtaro; Imamura, Morikazu; Iwamaru, Yoshifumi; Masujin, Kentaro; Matsuura, Yuichi; Yokoyama, Takashi

    2016-11-01

    Two Cheviot ewes homozygous for the A136L141R154Q171 (AL141RQ) prion protein (PrP) genotype were exposed intracerebrally to brain pools prepared using four field cases of atypical scrapie from the United Kingdom. Animals were clinically normal until the end of the experiment, when they were culled 7 years post-inoculation. Limited accumulation of disease-associated PrP (PrP(Sc)) was observed in the cerebellar molecular layer by immunohistochemistry, but not by western blot or enzyme-linked immunosorbent assay. In addition, PrP(Sc) was partially localized in astrocytes and microglia, suggesting that these cells have a role in PrP(Sc) processing, degradation or both. Our results indicate that atypical scrapie is transmissible to AL141RQ sheep, but these animals act as clinically silent carriers with long incubation times.

  10. Subacute Sclerosing Panencephalitis with Atypical Clinical and MRI Findings

    Directory of Open Access Journals (Sweden)

    Buse Rahime Hasırcı

    2016-04-01

    Full Text Available Subacute sclerosing panencephalitis (SSPE is a progressive inflammatory disorder of the central nervous system and a slow virus infection caused by aberrant measles virüs. Typical neurological manifestations include psychomotor impairment, progressive intellectual deterioration, myoclonic jerks and behavioral changes, with or without pyramidal symptoms. It usually affecting people aged 10 to 14 year. We report the case of an 17-year-old girl presenting with initial symptom of visual loss, seizures, a lack of SSPE specific EEG pattern, late onset and atypical fast progression of disease. The case highlights the importance of atypical clinical findings of SSPE at onset and also firstly disappearing, then appearing MRI findings at sequential images which can complicate the accurate diagnosis. High suspicion is needed because of its rareness.

  11. [Atypical fractures of the femur: apropos of 3 clinical cases].

    Science.gov (United States)

    Sanduloviciu, Maria; Stoll, Delphine; Lamy, Olivier; Krieg, Marc-Antoine; Aubry-Rozier, Bérengère

    2014-08-06

    Osteoporosis is an increasing public health problem. The bisphophonates are the most useful treatment used through the world to prevent osteoporotic fractures. Their large prescription revealed an unpredictable side effect: the atypical fracture. These fractures appear in the subtrochanteric or diaphysal femoral proximal site, spontaneously or after a low trauma, and could be bilateral. X-rays shows a transversal or oblique fracture with a spur in the cortex and with a diffuse thickening of the cortical of the proximal femur. Expert's recommendations are current in progress to well understand and managed this problem. Here we report three cases of atypical femur fractures occurred in our Centre of bone diseases with some management and treatment propositions.

  12. Learning, plasticity, and atypical generalization in children with autism.

    Science.gov (United States)

    Church, Barbara A; Rice, Courtney L; Dovgopoly, Alexander; Lopata, Christopher J; Thomeer, Marcus L; Nelson, Andrew; Mercado, Eduardo

    2015-10-01

    Individuals with autism spectrum disorder (ASD) show accelerated learning in some tasks, degraded learning in others, and distinct deficits when generalizing to novel situations. Recent simulations with connectionist models suggest that deficits in cortical plasticity mechanisms can account for atypical patterns of generalization shown by some children with ASD. We tested the surprising theoretical prediction, from past simulations, that the children with ASD who show atypical generalization in perceptual categorization tasks will benefit more from training with a single prototypical member of the category than from training with multiple examples, but children with ASD who generalize normally will be comparatively harmed. The experimental results confirmed this prediction, suggesting that plasticity deficits may well underlie the difficulties that some children with ASD have generalizing skills, and these deficits are not specific to the acquisition of social skills, but rather reflect a more general perceptual learning deficit that may impact many abilities.

  13. Biotin and biotinidase deficiency

    OpenAIRE

    Zempleni, Janos; Hassan, Yousef I.; Wijeratne, Subhashinee SK

    2008-01-01

    Biotin is a water-soluble vitamin that serves as an essential coenzyme for five carboxylases in mammals. Biotin-dependent carboxylases catalyze the fixation of bicarbonate in organic acids and play crucial roles in the metabolism of fatty acids, amino acids and glucose. Carboxylase activities decrease substantially in response to biotin deficiency. Biotin is also covalently attached to histones; biotinylated histones are enriched in repeat regions in the human genome and appear to play a role...

  14. An atypical case of Canavan disease with stroke-like presentation.

    Science.gov (United States)

    Delaney, Katherine E; Kralik, Stephen F; Hainline, Bryan E; Golomb, Meredith R

    2015-02-01

    Canavan disease is an autosomal recessive leukodystrophy caused by a deficiency of aspartoacylase. The disease has a severe course, with death occurring in the first few years of life. Atypical patients with mild courses have been reported, but acute presentations similar to stroke have not been well described. We present a boy who presented at 4 months of age with seizures after an episode of cardiopulmonary arrest is discussed. He was initially thought to have an ischemic watershed stroke based on his initial clinical presentation and magnetic resonance imaging. However, biochemical and follow-up radiologic evaluation were consistent with mild Canavan disease. DNA sequencing of the ASPA gene indicated one known mutation (A305E) and a novel mutation, L30V. Follow-up magnetic resonance imaging did not reveal the atrophy which would have been expected with watershed ischemia. Magnetic resonance spectroscopy demonstrated elevated N-acetyl aspartate to creatinine and N-acetyl aspartate to choline ratios. At 4 years of age, he was normocephalic, with mild clumsiness, speech delay, and seizures. This child's unusual acute presentation, along with his prolonged mild course, raises questions about the relationship between biochemical signs of abnormal aspartoacylase function and clinical findings. This patient highlights the need for long-term clinical follow-up of children with mild Canavan disease to clarify the significance of these biochemical abnormalities. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Cognitive Impairment in Schizophrenia, Neurotransmitters and the New Atypical Antipsychotic Aripiprazole

    Directory of Open Access Journals (Sweden)

    Topolov Mariyan K.

    2016-03-01

    Full Text Available Cognition is a group of mental processes that includes the capacity to perceive, think, learn and to study, and the capacity of the brain to analyze information and program adaptive behaviour. Although there has been an appreciable evolution in the therapy of psychoses in the last twenty-five years, cognitive disturbances still persist in spite of antipsychotic treatment. The cognitive decay disrupts the ability of clinically diagnosed patients with psychoses, mainly schizophrenia, to learn and to memorize skills that are useful for their family and social relationships. Moreover, cognitive deficiency is often considered to be crucial for further rehabilitation. In atypical antipsychotics there are big differences in the effects on cognitive functions. Some clinical studies demonstrate the benefits of a third generation of antipsychotics on cognitive functions in patients treated for mental illnesses. In the present study we have reviewed many articles investigating the influence of aripiprazole on cognition in human and animal subjects. Aripiprazole is a third generation antipsychotic drug that possesses a unique pharmacodynamic profile, which in conjunction with recently published scientific data on the drugs’ influence on antidepressant, anxiolytic and cognitive functions, suggests a highly positive future potential for restorative cognitive treatment and ongoing healthy function. The data included in the review will contribute to determining the potential benefits of aripiprazole on memory and training processes.

  16. Idiopathic Atypical Haemolytic Uraemic Syndrome presenting with acute dystonia

    LENUS (Irish Health Repository)

    Maduemem, Rizwan K E

    2017-09-01

    Hemolytic Uremic Syndrome (HUS), a triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The atypical HUS (aHUS) results from over activation of complement system with formation of micro thrombi and damage to endothelial cells resulting in renal impairment in 50 % and death in 25 %, commonly in untreated patients. We report an intriguing case of aHUS presenting with acute onset of movement disorder and fluctuating delirium.

  17. Atypical Histiocyte-Rich Sweet’s Syndrome

    Directory of Open Access Journals (Sweden)

    Sharon Chi

    2017-01-01

    Full Text Available Sweet’s Syndrome is a rare neutrophilic dermatosis thought to be a result of immune dysregulation occurring in the setting of drug exposure, recent infection, pregnancy, and underlying malignancy or idiopathic with specific and widely accepted diagnostic criteria established in the literature. Other organ systems can be involved with varying degrees of severity. An unusual case of Sweet’s Syndrome associated with myopericarditis, acral involvement, and atypical histological findings with predominance of histiocytes is described here.

  18. Use of atypical antipsychotics in the treatment of autistic disorder.

    Science.gov (United States)

    Stachnik, Joan M; Nunn-Thompson, Cheryl

    2007-04-01

    To review clinical trials and reports describing the efficacy and safety of atypical antipsychotics (olanzapine, ziprasidone, quetiapine, aripiprazole) in the treatment of autistic or other pervasive developmental disorders. English-language publications from the MEDLINE database (1966-February 2007) including clinical trials, case reports, and retrospective series were reviewed. Relevant data were extracted from studies of selected atypical antipsychotics in the treatment of autistic disorder in children, adolescents, and adults. Most literature found was in the form of case reports or case series; however, several open-label and double-blind trials were also identified. Autistic disorder is a chronic neurodevelopmental disorder with limited treatment options. Nonpharmacologic approaches may be the most beneficial, but pharmacologic agents are needed for some patients with significant behavioral manifestations of the disorder. The atypical antipsychotics (olanzapine, ziprasidone, quetiapine, aripiprazole) have shown some efficacy in improving certain behavioral symptoms of autistic disorder--primarily aggressiveness, hyperactivity, and self-injurious behavior. Efficacy was based on observation or changes from baseline in behavioral rating scores. Data appear to be strongest for olanzapine compared with quetiapine, with several open-label trials suggesting its efficacy. Weight gain and sedation were frequently reported adverse events with both agents. Aripiprazole has demonstrated efficacy in limited case series, with minimal adverse effects reported. Atypical antipsychotics represent a treatment option for symptoms associated with autistic disorder. However, these drugs do not affect the core symptoms of autistic disorder and are associated with potentially significant adverse effects. In addition, there is a lack of randomized controlled trials to determine the true efficacy and long-term safety of these agents in the pediatric population.

  19. Recurrent Malignancy-Associated Atypical Neutrophilic Dermatosis With Noninfectious Shock.

    Science.gov (United States)

    Kinser, Kathryn Nicole; Panach, Kamaldeep; Dominguez, Arturo Ricardo

    2017-12-01

    Sweet syndrome (SS) or acute febrile neutrophilic dermatosis presents with the sudden onset of fever, leukocytosis and tender, erythematous, edematous, well-demarcated papules and plaques that histopathologically demonstrate a dense neutrophilic infiltrate. A total of 20% of patients with SS have malignancy-associated disease that can present with bullous or atypical skin lesions that mimic pyoderma gangrenosum, another neutrophilic dermatosis. Both entities exist on a spectrum, and in the context of underlying malignancy, these neutrophilic diseases become less clinically distinct. The literature also describes life-threatening cases of neutrophilic dermatoses that mimic severe sepsis. We present a fatal case of a patient with chronic eosinophilic leukemia with recurrent episodes of malignancy-associated atypical neutrophilic dermatosis characterized by necrotic skin lesions, pulmonary infiltrates and noninfectious shock and we also summarize the clinical presentations of an additional 10 patients reported in the literature. We conducted a PubMed search of articles published up to and in 2015, focusing on the English and Spanish literature with SS cross-referenced with the following search terms: neutrophilic dermatosis, pyoderma gangrenosum, shock, multiorgan failure and systemic inflammatory response syndrome. The articles were reviewed and the patients׳ clinical and laboratory findings were summarized. Cases of atypical neutrophilic dermatosis presenting with noninfectious shock syndrome are likely underrecognized clinically and underreported in the literature. Patients with malignancy-associated atypical neutrophilic dermatoses associated with noninfectious shock syndrome typically have multisystem disease characterized by recurrent episodes and typically have poor prognoses. Copyright © 2017 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  20. Primary atypical carcinoid of the parietal pleura expressing KIT.

    Science.gov (United States)

    Terada, Tadashi

    2014-01-01

    The author reports an extremely rare case of atypical carcinoid of the pleura expressing KIT. An 81-year-old Japanese man with emphysema was found to have a mass (3×3×2 cm) in the left parietal pleura by various imaging modalities. Video-assisted tumorectomy was performed, but could not excise it completely. Histologically, the tumor was composed of atypical cells arranged in trabecular, ribbon-like, and rosette patterns. Mitotic figures and necrosis were present. The tumor cells were argyrophil. Immunohistochemically, the tumor cells were positive for pancytokeratins, cytokeratin (CK) 18, chromogranin (focal), p53, KIT, and Ki67 (labeling=17%). In contrast, the tumor cells were negative for CK5/6, CK7, CK19, CK20, CK34βE12, epithelial membrane antigen, vimentin, S100-protein, α-smooth muscle actin, desmin, CEA, TTF-1, CDX-2, AFP, HepPar-1, synaptophysin, CD56, CA19-9, CD15, neuron specific enolase, serotonin, CD34, platelet-derived growth factor-α, calretinin, thrombomodulin, WT-1, B72.3, and D2-40. The pathologic diagnosis was atypical carcinoid of the pleura. The patient was examined by whole body computed tomography, magnetic resonance imaging, and positron emission tomography, but there were no tumors other than the pleural tumor. Endoscopic examinations including upper and lower gastrointestinal tract revealed no tumors. Therefore, the pleural tumor was thought to be primary. Ten months later, the patient developed metastatic lesions in the vertebular and femoral bones, and died of respiratory failure. Autopsy was not performed. To the best of the author's knowledge, there are no cases of primary carcinoid in the pleura in the English literature. This case is also interesting in that the atypical carcinoid expressed KIT.

  1. Acute neck pain, an atypical presentation of subarachnoid haemorrhage

    OpenAIRE

    Ahmed, Julian; Blakeley, Chris; Sakar, Ramy; Aktar, Khalida; Hashemi, Kambiz

    2007-01-01

    Subarachnoid haemorrhage can be a massively debilitating condition with long‐term repercussions. The “classic” presentation of sudden‐onset severe headache normally raises suspicions. However, if the presentation is atypical, the diagnosis may be missed. We report on a 52‐year‐old man who presented with a 1‐day history of progressively worsening right‐sided neck pain spreading to the chest with associated symptoms of autonomic dysfunction. After initial stabilisation, the patient's Glasgow Co...

  2. Atypical Eating Attitudes and Behaviors in Thai Medical Students

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    Jarurin Pitanupong

    2017-01-01

    Full Text Available Objective: To determine the prevalence, and associated factors of atypical eating attitudes and behaviors in Thai medical students. Methods: A cross-sectional survey examined the eating abnormalities in Thai medical students, conducted in 2014. Research assistants collected data by using; self-reported questionnaires using The Eating Attitudes Test-26 (EAT-26 Thai Version. The statistical analysis used R-program for qualitative variables and logistic regression was applied to determine the correlation and P-value. Results: 141 Thai, medical students (15.9% were reported to have atypical attitudes towards eating, and displayed abnormal eating behaviors. There was no statistically significant correlation of attitude towards eating, and their current eating behaviors according to the medical students’ gender, year of studying and Grade Point Average. However, their eating attitudes and behaviors were, associated with Body Mass index. Normal weight (BMI 18.5- 23.49 and overweight (BMI 23.5-39.9 groups could increase by 2.2 (95% CI =1.2, 4.3 and 2.3 (95% CI=1.1, 4.8 times risk depending on atypical eating attitudes and abnormal eating behaviors respectively, when compared with the underweight group (BMI<18.5. Conclusion: There was no correlated difference in concerns to the Thai medical student’s abnormal eating habits, with gender, years of their study and Grade Point Average. Only normal to over-weight BMI were associated. Overweight male, medical students significantly represented more atypical attitudes towards eating and behaviors than other groups in this population. These results may reveal the changing trends of eating attitudes and behaviors due to the current ideal body image of being more muscular. However, prospective studies are still needed.

  3. Electronic brachytherapy management of atypical fibroxanthoma: report of 8 lesions

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    Stephen Doggett; James Brazil; Marketa Limova; Leah Press; Sidney Smith; Jeremy Peck

    2017-01-01

    Purpose : To evaluate the suitability of treating atypical fibroxanthoma (AFX), an uncommon skin malignancy, with electronic brachytherapy. Material and methods : From Feb 2013 to Sep 2014, we were referred a total of 8 cases of AFX in 7 patients, all involving the scalp. All of them were treated with electronic brachytherapy 50 Kev radiations (Xoft Axxent®, Fremont, California). All lesions received 40 Gy in two fractions per week with 5mm margins. Results : At a median follow-up...

  4. Atypical Pelvic Crescent Fracture Caused by Vertical Shear Force

    OpenAIRE

    Park, Sang-Eun; Lee, Se-Won; Kim, Weon-Yoo; Park, Yong

    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...

  5. Childhood atypical meningioma with perineural spread: MR findings

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    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.)

  6. Quantitative methods for somatosensory evaluation in atypical odontalgia

    OpenAIRE

    PORPORATTI,André Luís; COSTA,Yuri Martins; STUGINSKI-BARBOSA,Juliana; BONJARDIM,Leonardo Rigoldi; CONTI,Paulo César Rodrigues; SVENSSON,Peter

    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 d...

  7. Current Evidence on Atypical Odontalgia: Diagnosis and Clinical Management

    OpenAIRE

    Abiko, Yoshihiro; Matsuoka, Hirofumi; Chiba, Itsuo; Toyofuku, Akira

    2012-01-01

    Patients with atypical odontalgia (AO) complain of medically unexplained toothache. No evidence-based diagnostic criteria or treatment guidelines are yet available. The present paper addresses seven clinical questions about AO based on current knowledge in the literature and discusses diagnostic criteria and guidelines for treatment and management. The questions are (i) What is the prevalence of AO in the community? (ii) What psychological problems are experienced by patients with AO? (iii) A...

  8. Atypical responses in patients with advanced melanoma, lung cancer, renal-cell carcinoma and other solid tumors treated with anti-PD-1 drugs: A systematic review.

    Science.gov (United States)

    Queirolo, Paola; Spagnolo, Francesco

    2017-09-01

    Anti-programmed death receptor 1 (PD-1) drugs nivolumab and pembrolizumab were recently approved for the treatment of advanced melanoma and other solid tumors. Atypical patterns of response (i.e. tumor shrinkage or stabilization after initial progression) were observed in about 10% of metastatic melanoma patients treated with anti-cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) drug ipilimumab and were associated with improved survival; however, the rate of atypical response patterns to anti-PD-1 therapy is not clear. An electronic search was performed to identify clinical trials evaluating response to anti-PD-1 therapy with nivolumab and pembrolizumab in patients with advanced solid tumors. Thirty-eight studies were included in our analysis for a total of 7069 patients with advanced cancer treated with anti-PD-1 therapy. Responses were evaluated by unconventional response criteria in 19 trials and were observed for all cancer types but tumors with mismatch-repair deficiency and head and neck squamous cell carcinoma. Overall, 151 atypical responses were observed in 2400 patients (6%) evaluated by unconventional response criteria. The results of our systematic review highlight the clinical relevance of unconventional responses to anti-PD-1 therapy and support further investigation into the development of tools that may assist evaluation of the antitumor activity of immunotherapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Extracutaneous atypical syphilis in HIV-infected patients.

    Science.gov (United States)

    Prieto, Paula; Imaz, Arkaitz; Calatayud, Laura; García, Olga; Saumoy, María; Podzamczer, Daniel

    2017-12-07

    We describe a series of cases of syphilis with atypical extracutaneous clinical presentation diagnosed in HIV-infected patients. Retrospective observational study. All cases of syphilis diagnosed in HIV-infected patients during the period between June 2013 and June 2016 in a tertiary hospital of the Barcelona metropolitan area were analysed. A total of 71 cases of syphilis were diagnosed, 32 of them presenting with clinical signs or symptoms. Seven of these cases (9.8% of the total and 21.8% of the symptomatic cases) had atypical presentations with extracutaneous involvement: ocular (4), gastric (1), multiple hepatic abscesses (1) and generalised adenopathies (1). Patients were treated with intramuscular or intravenous penicillin and the clinical and serological evolution was good in all of them. Extracutaneous atypical clinical presentations were observed in 21.8% of symptomatic cases of syphilis in HIV+ patients with ocular involvement being the most freqent. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  10. Atypical resource allocation may contribute to many aspects of autism

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    Emily J. Goldknopf

    2013-12-01

    Full Text Available Based on a review of the literature and on reports by people with autism, this paper suggests that atypical resource allocation is a factor that contributes to many aspects of autism spectrum conditions, including difficulties with language and social cognition, atypical sensory and attentional experiences, executive and motor challenges, and perceptual and conceptual strengths and weaknesses. Drawing upon resource theoretical approaches that suggest that perception, cognition, and action draw upon multiple pools of resources, the approach states that compared with resources in typical cognition, resources in autism are narrowed or reduced, especially in people with strong sensory symptoms. In narrowed attention, resources are restricted to smaller areas and to fewer modalities, stages of processing, and cognitive processes than in typical cognition; resources may be more intense than in typical cognition. In reduced attentional capacity, overall resources are reduced; resources may be restricted to fewer modalities, stages of processing, and cognitive processes than in typical cognition, or the amount of resources allocated to each area or process may be reduced. Possible neural bases of the hypothesized atypical resource allocation, relations to other approaches, limitations, and tests of the hypotheses are discussed.

  11. Atypical Rocky Mountain spotted fever with polyarticular arthritis.

    Science.gov (United States)

    Chaudhry, Muhammad A; Scofield, Robert Hal

    2013-11-01

    Rocky Mountain spotted fever (RMSF) is an acute, serious tick borne illness caused by Rickettsia rickettsi. Frequently, RMSF is manifested by headache, a typical rash and fever but atypical disease is common, making diagnosis difficult. Inflammatory arthritis as a manifestation is rare. The purpose of this study is to describe a patient with serologically proven RMSF who presented in an atypical manner with inflammatory arthritis of the small joints of the hands and to review the previously reported patients with rickettsial infection and inflammatory arthritis. An 18-year-old woman presented with a rash that began on the distal extremities and spread centrally, along with hand pain and swelling. She had tenderness and swelling of the metacarpophlangeal joints on examination in addition to an erythematosus macular rash and occasional fever. Acute and convalescent serology demonstrated R rickettsi infection. She was successfully treated with doxycycline. Inflammatory arthritis is a rare manifestation of RMSF or other rickettsial infection with 8 previously reported patients, only 1 of whom had RMSF. Physician must have a high index of suspicion for RMSF because of atypical presentations.

  12. Research advance on diagnosis and treatment for atypical optic neuritis

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    Guo-Yan Zeng

    2016-06-01

    Full Text Available Optic neuritis(ONis one of the most common causes of vision loss by neural eye diseases in youth and middle-aged. In the past, the diagnosis simply according to the risk position, which did not distinguish from the pathogenesis and clinical characteristics, can not meet the current clinical diagnosis and treatment needs. Combining with the etiology, clinical characteristics and prognosis, the latest classification of the current international diagnosis of ON are typical and atypical ON. Typical ON relates to multiple sclerosis(MSor demyelinating disease of the central nervous system, it has a relatively good therapeutic effect and prognosis. Rather than, atypical ON has complex etiology, clinical manifestation, and the treatment and prognosis are also different. At present there are many international ON treatment guidelines with level I evidence-based medical evidence, but with different genetic background, geographical environment and ethnic groups, they are not been determined. China lacks of such a multicenter large sample, a wide range of research evidence. In this paper, we will summarize the progress of the diagnosis and treatment about ON, especially about the atypical ON, in order to provide some suggestions to further improve the standardization and individualization for clinical diagnosis and treatment on ON.

  13. 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.

  14. 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.

  15. 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. PMID:26258131

  16. Accuracy of episodic autobiographical memory in children with early thyroid hormone deficiency using a staged event

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    Karen A. Willoughby

    2014-07-01

    Full Text Available Autobiographical memory (AM is a highly constructive cognitive process that often contains memory errors. No study has specifically examined AM accuracy in children with abnormal development of the hippocampus, a crucial brain region for AM retrieval. Thus, the present study investigated AM accuracy in 68 typically and atypically developing children using a staged autobiographical event, the Children's Autobiographical Interview, and structural magnetic resonance imaging. The atypically developing group consisted of 17 children (HYPO exposed during gestation to insufficient maternal thyroid hormone (TH, a critical substrate for hippocampal development, and 25 children with congenital hypothyroidism (CH, who were compared to 26 controls. Groups differed significantly in the number of accurate episodic details recalled and proportion accuracy scores, with controls having more accurate recollections of the staged event than both TH-deficient groups. Total hippocampal volumes and anterior hippocampal volumes were positively correlated with proportion accuracy scores, but not total accurate episodic details, in HYPO and CH. In addition, greater severity of TH deficiency predicted lower proportion accuracy scores in both HYPO and CH. Overall, these results indicate that children with early TH deficiency have deficits in AM accuracy and that the anterior hippocampus may play a particularly important role in accurate AM retrieval.

  17. Relationships among Sensory Responsiveness, Anxiety, and Ritual Behaviors in Children with and without Atypical Sensory Responsiveness.

    Science.gov (United States)

    Bart, Orit; Bar-Shalita, Tami; Mansour, Hanin; Dar, Reuven

    2017-08-01

    To explore relationships between sensory responsiveness, anxiety, and ritual behaviors in boys with typical and atypical sensory responsiveness. Forty-eight boys, ages 5-9 participated in the study (28 boys with atypical sensory responsiveness and 20 controls). Atypical sensory responsiveness was defined as a score of ≤154 on the Short Sensory Profile. Parents completed the Sensory Profile, the Screen for Child Anxiety Related Emotional Disorders, and the Childhood Routines Inventory. Children with atypical sensory responsiveness had significantly higher levels of anxiety and a higher frequency of ritual behaviors than controls. Atypical sensory responsiveness was significantly related to both anxiety and ritual behaviors, with anxiety mediating the relationship between sensory modulation and ritual behaviors. The findings elucidate the potential consequences of atypical sensory responsiveness and could support the notion that ritual behaviors develop as a coping mechanism in response to anxiety stemming from primary difficulty in modulating sensory input.

  18. Glucose-6-phosphatase deficiency

    Directory of Open Access Journals (Sweden)

    Labrune Philippe

    2011-05-01

    Full Text Available Abstract Glucose-6-phosphatase deficiency (G6P deficiency, or glycogen storage disease type I (GSDI, is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea. Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty, generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency. GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib. Mutations in the genes G6PC (17q21 and SLC37A4 (11q23 respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most

  19. [Iron deficiency and digestive disorders].

    Science.gov (United States)

    Cozon, G J N

    2014-11-01

    Iron deficiency anemia still remains problematic worldwide. Iron deficiency without anemia is often undiagnosed. We reviewed, in this study, symptoms and syndromes associated with iron deficiency with or without anemia: fatigue, cognitive functions, restless legs syndrome, hair loss, and chronic heart failure. Iron is absorbed through the digestive tract. Hepcidin and ferroportin are the main proteins of iron regulation. Pathogenic micro-organisms or intestinal dysbiosis are suspected to influence iron absorption. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  20. Autophagy induction by tetrahydrobiopterin deficiency

    OpenAIRE

    Kwak, Sang Su; Suk, Jinkyu; Choi, Ji Hye; Yang, Seungkyung; Kim, Jin Woo; Sohn, Seonghyang; Chung, Jae Hoon; Hong, Yong Hee; Lee, Dong Hwan; Ahn, Jeong Keun; Min, Hyesun; Fu, Ya-Min; Meadows, Gary G.; Joe, Cheol O.

    2011-01-01

    Tetrahydrobiopterin (BH4) deficiency is a genetic disorder associated with a variety of metabolic syndromes such as phenylketonuria (PKU). In this article, the signaling pathway by which BH4 deficiency inactivates mTORC1 leading to the activation of the autophagic pathway was studied utilizing BH4-deficient Spr-/- mice generated by the knockout of the gene encoding sepiapterin reductase (SR) catalyzing BH4 synthesis. We found that mTORC1 signaling was inactivated and autophagic pathway was ac...

  1. Drug information update. Atypical antipsychotics and neuroleptic malignant syndrome: nuances and pragmatics of the association.

    Science.gov (United States)

    Sarkar, Siddharth; Gupta, Nitin

    2017-08-01

    Neuroleptic malignant syndrome (NMS) is a rare but potentially fatal adverse event associated with the use of antipsychotics. Although atypical antipsychotics were initially considered to carry no risk of NMS, reports have accumulated over time implicating them in NMS causation. Almost all atypical antipsychotics have been reported to be associated with NMS. The clinical profile of NMS caused by certain atypical antipsychotics such as clozapine has been reported to be considerably different from the NMS produced by typical antipsychotics, with diaphoresis encountered more commonly, and rigidity and tremor encountered less frequently. This article briefly discusses the evidence relating to the occurrence, presentation and management of NMS induced by atypical antipsychotics.

  2. Nutritional deficiencies after bariatric surgery.

    Science.gov (United States)

    Bal, Bikram S; Finelli, Frederick C; Shope, Timothy R; Koch, Timothy R

    2012-09-01

    Lifestyle intervention programmes often produce insufficient weight loss and poor weight loss maintenance. As a result, an increasing number of patients with obesity and related comorbidities undergo bariatric surgery, which includes approaches such as the adjustable gastric band or the 'divided' Roux-en-Y gastric bypass (RYGB). This Review summarizes the current knowledge on nutrient deficiencies that can develop after bariatric surgery and highlights follow-up and treatment options for bariatric surgery patients who develop a micronutrient deficiency. The major macronutrient deficiency after bariatric surgery is protein malnutrition. Deficiencies in micronutrients, which include trace elements, essential minerals, and water-soluble and fat-soluble vitamins, are common before bariatric surgery and often persist postoperatively, despite universal recommendations on multivitamin and mineral supplements. Other disorders, including small intestinal bacterial overgrowth, can promote micronutrient deficiencies, especially in patients with diabetes mellitus. Recognition of the clinical presentations of micronutrient deficiencies is important, both to enable early intervention and to minimize long-term adverse effects. A major clinical concern is the relationship between vitamin D deficiency and the development of metabolic bone diseases, such as osteoporosis or osteomalacia; metabolic bone diseases may explain the increased risk of hip fracture in patients after RYGB. Further studies are required to determine the optimal levels of nutrient supplementation and whether postoperative laboratory monitoring effectively detects nutrient deficiencies. In the absence of such data, clinicians should inquire about and treat symptoms that suggest nutrient deficiencies.

  3. Atypical lymphocytes in malaria mimicking dengue infection in Thailand

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    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

  4. Reassessing risk models for atypical hyperplasia: age may not matter.

    Science.gov (United States)

    Mazzola, Emanuele; Coopey, Suzanne B; Griffin, Molly; Polubriaginof, Fernanda; Buckley, Julliette M; Parmigiani, Giovanni; Garber, Judy E; Smith, Barbara L; Gadd, Michele A; Specht, Michelle C; Guidi, Anthony; Hughes, Kevin S

    2017-09-01

    The aim of this study was to investigate the influence of age at diagnosis of atypical hyperplasia ("atypia", ductal [ADH], lobular [ALH], or severe ADH) on the risk of developing subsequent invasive breast cancer or ductal carcinoma in situ (DCIS). Using standard survival analysis methods, we retrospectively analyzed 1353 women not treated with chemoprevention among a cohort of 2370 women diagnosed with atypical hyperplasia to determine the risk relationship between age at diagnosis and subsequent breast cancer. For all atypia diagnoses combined, our cohort showed a 5-, 10-, and 15-year risk of invasive breast cancer or DCIS of 0.56, 1.25, and 1.30, respectively, with no significant difference in the (65,75] year age group. For women aged (35,75] years, we observed no significant difference in the 15-year risk of invasive breast cancer or DCIS after atypical hyperplasia, although the baseline risk for a 40-year-old woman is approximately 1/8 the risk of a 70-year-old woman. The risks associated with invasive breast cancer or DCIS for women in our cohort diagnosed with ADH, severe ADH, or ALH, regardless of age, were 7.6% (95% CI 5.9-9.3%) at 5 years, 25.1% (20.7-29.2%) at 10 years, and 40.1% (32.8-46.6%) at 15 years. In contrast to current risk prediction models (e.g., Gail, Tyrer-Cuzick) which assume that the risk of developing breast cancer increases in relation to age at diagnosis of atypia, we found the 15-year cancer risk in our cohort was not significantly different for women between the ages of 35 (excluded) and 75. This implies that the "hits" received by the breast tissue along the "high-risk pathway" to cancer might possibly supersede other factors such as age.

  5. THE ROLE OF ATYPICAL ANTIPSYCHOTIC DECREASING AGGRESIVENESS IN SCHIZOPHRENIA

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    Juvita Novia Anggraini Maria

    2013-03-01

    Full Text Available Schizophrenia is a psychiatry disorder accompanying by alteration of mind-set, perception,  thought, and behavior. Symptom of schizophrenia can be positive symptom and negative symptom. The positive symptom often became a fear for the others, that is aggresiveness as violance, suicide, ang homicide. Aggresiveness divided in five category, that is impulsivity, affective instability, anxiety/hyperarousal, cognitive disorganization, predatory/planned aggression. Pharmacology theraphy is a choice in decreasing aggresiveness in schizophrenia. Atypical antipsychotic theraphy indicate higher effectivity and fewer side effect than conventional antipsychotic.

  6. 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.

  7. Atypical presentation of sporotrichosis: report of three cases

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    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.

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome.

    Science.gov (United States)

    Reiss, U; Hofweber, K; Herterich, R; Waldherr, R; Bohnert, E; Jung, E; Schärer, K

    1996-10-01

    This report describes a boy with an atypical severe from of Cockayne syndrome type II manifesting in infancy. He developed nephrotic syndrome at the age of 4.7 years and a hypertensive crisis with hemiparesis at 5.4 years. Renal biopsy revealed focal segmental glomerulosclerosis, which was confirmed at autopsy. Adrenocortical failure was also present. The course was characterized by frequent infections and an episode of myocarditis. The boy died at the age of 6.0 years after rapid neurological deterioration accompanied by renal insufficiency. Autopsy disclosed cerebral leukodystrophy compatible with Cockayne syndrome.

  11. Atypical imaging in a desmoplastic non-infantile astrocytoma.

    Science.gov (United States)

    Gupta, Abhishek; Karthigeyan, Madhivanan; Gupta, Kirti; Salunke, Pravin

    2017-03-01

    Desmoplastic infantile tumors, especially desmoplastic astrocytomas, are uncommon neoplasms that are generally seen within first 2 years of life. Their occurrence in slightly older children is very rare. The typical radiological appearance is a large cystic lesion with small enhancing solid part. In the present report, we describe a 10-year-old child with atypical appearance of desmoplastic non-infantile astrocytoma which was predominantly solid on imaging. Although rare, desmoplastic astrocytomas may present even in older children and should be considered in the differential diagnoses. These tumors may present as predominantly solid enhancing lesions and add to the radiological dilemma.

  12. 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.

  13. Atypical Papular Purpuric Eruption Induced by Parvovirus B19 Infection

    Directory of Open Access Journals (Sweden)

    Şeyma Kayalı

    2016-03-01

    Full Text Available Parvovirus B19 infection’s most common dermatological manifestation is erythema infectiosum as also known the fifth disease. Rare clinical presentations of parvovirus B 19 like papulopurpuric gloves and socks syndrome and acropetechial syndrome has also been described re­cently. This study presents report of a case with atypical feature and distribution of rash due to parvovirus B19 in­fection. We want to emphasize that pediatricians should consider parvovirus B19 infection of any patient who has leukopenia presenting with petechial/purpuric eruption of an unclear origin.

  14. 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.)

  15. A Case of Ramsay Hunt Syndrome with Atypical Presentation.

    Science.gov (United States)

    Kayayurt, Kamil; Yavasi, Ozcan; Bilir, Ozlem; Ersunan, Gokhan; Giakoup, Baris

    2014-09-01

    Ramsay Hunt syndrome is a rare complication of herpes zoster which results from the reactivation of the latent varicella-zoster virus in the geniculate ganglion. Although facial nerve is the most common affected nerve in Ramsay Hunt syndrome, other cranial and cervical nerves can also be affected. We present an atypical case of Ramsay Hunt syndrome in a 42-year-old male, with cervical nerve involvement. As spontaneous recovery rate in Ramsay Hunt syndrome is low, early diagnosis and treatment plays a key role in full recovery of paralysis.

  16. Atypical Gastric Ulcer in an Elderly Cocaine User

    Directory of Open Access Journals (Sweden)

    Vinaya Gaduputi

    2013-01-01

    Full Text Available Cocaine or Benzoylmethylecgonine is an alkaloid extracted from the leaves of the Erythroxylon plant, which can cause gastrointestinal ischemia from severe arterial vasoconstriction via stimulation of alpha-adrenergic receptors in the gastric and mesenteric arteries. We report this case of a 65-year-old man who presented with a single massive ulcer at the incisura of the stomach as a result of cocaine use. The size and location of this ulcer were atypical and illustrate the potential for serious gastrointestinal manifestations from cocaine use.

  17. An atypical porcine proliferative enteropathy of malgrowth piglets.

    Science.gov (United States)

    Sueyoshi, Masuo; Arikawa, Akinobu; Uemura, Ryoko; Nakamori, Kentaro; Nagatomo, Hiroshi

    2010-11-01

    Two 60-day-old pigs showing clinical signs of malgrowth and diarrhea were diagnosed as atypical porcine proliferative enteropathy (PPE). The intestinal mucosal lesions in the piglets were characterized by the adenomatous proliferation of the crypt epithelium together with growth of small curved bacteria within the enterocytes. The lesions could be seen in the ileum and other portions of the intestine histologically, although no significant thickening of the gut wall could be observed grossly in the present case. The macroscopic findings are extremely important for the diagnosis of PPE, however, this paper shows that the histopathological and/or immunohistochemical findings were also critical to identify the disease.

  18. Atypical Findings of Guillain-Barré Syndrome in Children

    OpenAIRE

    KARIMZADEH, Parvaneh; Mohammadkazem BAKHSHANDEH BALI; Mohammad Mahdi Nasehi; Seyedeh Mohaddese Taheri Otaghsara; Mohammad Ghofrani

    2012-01-01

    How to cite this article: Karimzadeh P, Bakhshandeh Bali MK, Nasehi MM, Taheri Otaghsara SM, Ghofrani M. Atypical Findings of Guillain-Barré Syndrome in Children. Iran J Child Neurol Autumn 2012;6(4):17-22. AbstractObjectiveGuillain-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 conf...

  19. 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. © The Author(s), 2015.

  20. [Atypical agents of wound infection and targeted samples].

    Science.gov (United States)

    Kucisec-Tepes, Nastja

    2012-10-01

    All open wounds are primarily contaminated and subsequently colonized by microorganisms, predominantly bacteria. Only about 30% of chronic wounds are also infected. Factors which favor the development of infection are the following: large quantity of bacteria, presence of virulence factors, their quantity and number, predominantly the synergy of aerobic and anaerobic bacteria, and formation of biofilm. Common agents of infection of acute and chronic wounds are Staphylococcus aureus, MRSA, Streptococcus beta-haemolyticus, Pseudomonas aeruginosa, Bacteroides spp., and Candida albicans. Difference between acute and chronic wound is in the predominance of individual agents, with an observation that Staphylococcus aureus is predominant in both cases. Atypical agents of chronic wound infection are rare, unusual, not found in the area in which we live, not proven by standard microbiological methods, but molecular methods are needed instead. They are predominantly opportunists, varying in the expression of virulence factors, or they have changed their phenotype characteristics and are not the agents of primary wound infections. They are the agents of secondary infections. Atypical agents of the chronic wound infection are diverse, from the anaerobe group, Peptoniphilus spp., Anaerococcus spp., Bacteroides ureolyticus, Finegoldia magma, the group of gram positive rods of the Corynebacterium genus, the group of bacteria from aquatic environment Mycobacterium fortuitum complex, and Vibrio alginolyticus. The targeted samples are biopsy sample as the "gold standard" and/or aspirate, when a significant quantity of exudate is present. Targeted samples are obligatory when there is a progression and decomposition of the base of the wound, increase in the size or depth of the wound, isolation of multiresistant microbes, or absence of clinical response to empirical antimicrobial therapy. In the diagnosis of opportunistic pathogens or atypical agents of chronic wound infection, it is

  1. Atypical bacterial infections explained by a concomitant virus infection.

    Science.gov (United States)

    Dagan, R; Hall, C B; Menegus, M A

    1985-09-01

    Because both viral and bacterial infections are common during early childhood, dual infections are not unexpected. However, the clinical manifestation of such combined infections may be, difficult to interpret, and they are often misdiagnosed as "atypical bacterial infection." Five patients with concomitant viral-bacterial infections are described. In all five cases, virus detection enabled the physicians to better understand an otherwise puzzling clinical presentation. In view of the recent progress in rapid viral diagnoses and the potential of antiviral drugs, the possibility of dual infection should be investigated more often.

  2. The Nature of Foot Ray Deficiency in Congenital Fibular Deficiency.

    Science.gov (United States)

    Reyes, Bryan A; Birch, John G; Hootnick, David R; Cherkashin, Alex M; Samchukov, Mikhail L

    Absent lateral osseous structures in congenital fibular deficiency, including the distal femur and fibula, have led some authors to refer to the nature of foot ray deficiency as "lateral" as well. Others have suggested that the ray deficiency is in the central portion of the midfoot and forefoot.We sought to determine whether cuboid preservation and/or cuneiform deficiency in the feet of patients with congenital fibular deficiency implied that the ray deficiency is central rather than lateral in patients with congenital fibular deficiency. We identified all patients with a clinical morphologic diagnosis of congenital fibular deficiency at our institution over a 15-year period. We reviewed the records and radiographs of patients who had radiographs of the feet to allow determination of the number of metatarsals, the presence or absence of a cuboid or calcaneocuboid fusion, the number of cuneiforms present (if possible), and any other osseous abnormalities of the foot. We excluded patients with 5-rayed feet, those who had not had radiographs of the feet, or whose radiographs were not adequate to allow accurate assessment of these radiographic features. We defined the characteristic "lateral (fifth) ray present" if there was a well-developed cuboid or calcaneocuboid coalition with which the lateral-most preserved metatarsal articulated. Twenty-six patients with 28 affected feet met radiographic criteria for inclusion in the study. All affected feet had a well-developed cuboid or calcaneocuboid coalition. The lateral-most ray of 25 patients with 26 affected feet articulated with the cuboid or calcaneocuboid coalition. One patient with bilateral fibular deficiency had bilateral partially deficient cuboids, and the lateral-most metatarsal articulated with the medial remnant of the deformed cuboids. Twenty-one of 28 feet with visible cuneiforms had 2 or 1 cuneiform. Although the embryology and pathogenesis of congenital fibular deficiency remain unknown, based on the

  3. MCAD deficiency in Denmark

    DEFF Research Database (Denmark)

    Andresen, Brage Storstein; Lund, Allan Meldgaard; Hougaard, David Michael

    2012-01-01

    Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of fatty acid oxidation. Many countries have introduced newborn screening for MCADD, because characteristic acylcarnitines can easily be identified in filter paper blood spot samples by tandem mass spectrometry (MS...... analysis. This gives an incidence of MCADD detected by newborn screening in Denmark of 1/8954. In sharp contrast to this we found that the incidence of clinically presenting MCADD in Denmark in the 10 year period preceding introduction of MS/MS-based screening was only 1 in 39,691. This means that four...... lower proportion of newborns being homozygous for the prevalent disease-causing c.985A>G mutation. A significant number of the newborns have genotypes with mutations that have not been observed in patients detected clinically. Some of these mutations, like c.199T>C and c.127G>A, are always associated...

  4. Congenital fibular deficiency.

    Science.gov (United States)

    Hamdy, Reggie C; Makhdom, Asim M; Saran, Neil; Birch, John

    2014-04-01

    Congenital fibular deficiency (CFD) is characterized by a wide spectrum of manifestations ranging from mild limb length inequality (LLI) to severe shortening, with foot and ankle deformities and associated anomalies. The etiology of CFD remains unclear. Treatment goals are to achieve normal weight bearing, a functional plantigrade foot, and equal limb length. The recent Birch classification system has been proposed to provide a treatment guide: the functionality of the foot, LLI, and associated anomalies should be taken into account for decision-making. Treatment options include orthosis or epiphysiodesis, Syme or Boyd amputation and prosthetic rehabilitation, limb lengthening procedures, and foot and ankle reconstruction. The outcome of amputation for severe forms of CFD has shown favorable results and fewer complications compared with those of limb lengthening. Nevertheless, advances in the limb lengthening techniques may change our approach to treating patients with CFD and might extend the indications for reconstructive procedures to the treatment of severe LLI and foot deformities.

  5. Mortality and GH deficiency

    DEFF Research Database (Denmark)

    Stochholm, Kirstine; Gravholt, Claus Højbjerg; Laursen, Torben

    2007-01-01

    OBJECTIVE: To estimate the mortality in Denmark in patients suffering from GH deficiency (GHD). DESIGN: Mortality was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in GHD patients were studied and additional morbidity noted. Patients were divided...... into childhood onset (CO) and adult onset (AO), discriminated by an age cutoff below or above 18 years at onset of GHD. METHOD: Data on death were identified in national registries. Sex- and cause-specific mortalities were identified in CO and AO GHD when compared with controls. RESULTS: Mortality was increased...... versus AO males, both compared with controls (P mortality was increased due to cancer in all subgroups, due to circulatory diseases in all age groups for females and for males in the oldest age group. For CO, the increased mortality was due to cancer. CONCLUSIONS: We found...

  6. Structural basis of ligand interaction with atypical chemokine receptor 3

    Science.gov (United States)

    Gustavsson, Martin; Wang, Liwen; van Gils, Noortje; Stephens, Bryan S.; Zhang, Penglie; Schall, Thomas J.; Yang, Sichun; Abagyan, Ruben; Chance, Mark R.; Kufareva, Irina; Handel, Tracy M.

    2017-01-01

    Chemokines drive cell migration through their interactions with seven-transmembrane (7TM) chemokine receptors on cell surfaces. The atypical chemokine receptor 3 (ACKR3) binds chemokines CXCL11 and CXCL12 and signals exclusively through β-arrestin-mediated pathways, without activating canonical G-protein signalling. This receptor is upregulated in numerous cancers making it a potential drug target. Here we collected over 100 distinct structural probes from radiolytic footprinting, disulfide trapping, and mutagenesis to map the structures of ACKR3:CXCL12 and ACKR3:small-molecule complexes, including dynamic regions that proved unresolvable by X-ray crystallography in homologous receptors. The data are integrated with molecular modelling to produce complete and cohesive experimentally driven models that confirm and expand on the existing knowledge of the architecture of receptor:chemokine and receptor:small-molecule complexes. Additionally, we detected and characterized ligand-induced conformational changes in the transmembrane and intracellular regions of ACKR3 that elucidate fundamental structural elements of agonism in this atypical receptor.

  7. Structural basis of ligand interaction with atypical chemokine receptor 3

    Energy Technology Data Exchange (ETDEWEB)

    Gustavsson, Martin; Wang, Liwen; van Gils, Noortje; Stephens, Bryan S.; Zhang, Penglie; Schall, Thomas J.; Yang, Sichun; Abagyan, Ruben; Chance, Mark R.; Kufareva, Irina; Handel, Tracy M.

    2017-01-18

    Chemokines drive cell migration through their interactions with seven-transmembrane (7TM) chemokine receptors on cell surfaces. The atypical chemokine receptor 3 (ACKR3) binds chemokines CXCL11 and CXCL12 and signals exclusively through β-arrestin-mediated pathways, without activating canonical G-protein signalling. This receptor is upregulated in numerous cancers making it a potential drug target. Here we collected over 100 distinct structural probes from radiolytic footprinting, disulfide trapping, and mutagenesis to map the structures of ACKR3:CXCL12 and ACKR3:small-molecule complexes, including dynamic regions that proved unresolvable by X-ray crystallography in homologous receptors. The data are integrated with molecular modelling to produce complete and cohesive experimentally driven models that confirm and expand on the existing knowledge of the architecture of receptor:chemokine and receptor:small-molecule complexes. Additionally, we detected and characterized ligand-induced conformational changes in the transmembrane and intracellular regions of ACKR3 that elucidate fundamental structural elements of agonism in this atypical receptor.

  8. Typical and atypical clinical presentation of uterine myomas

    Directory of Open Access Journals (Sweden)

    Wen-Hsiang Su

    2012-10-01

    Full Text Available Myoma is the most common benign neoplasm that can occur in the female reproductive system, most frequently seen in women in their 50s. Although the majority of myomas are asymptomatic, some patients have symptoms and/or signs of varying degrees. Typical myoma-related symptoms or signs include: (1 menstrual disturbances like menorrhagia, dysmenorrhea and intermenstrual bleeding, (2 pelvic pain unrelated to menstruation, (3 compression symptoms, similar to a sensation of bloatedness, urinary frequency and constipation, (4 subfertility status such as recurrent abortion, preterm labor, dystocia with an increased incidence of Cesarean section, and postpartum hemorrhage, and (5 cosmetic problems due to increased abdominal girth However, there are undoubtedly some clinical presentations secondary to uterine myomas are not so specific, such as: (1 uncommon compression-related symptoms, (2 cardiac symptom and atypical symptoms secondary to vascular involvement or dissemination, (3 abdominal symptoms mimicking pelvic carcinomatosis, (4 dyspnea, (5 pruritus, (6 hiccup or internal bleeding, and (7 vaginal protruding mass or uterine inversion. Familiarization with these symptoms and awareness of other unusual or atypical presentations of uterine myomas will remind clinical practitioners of their significance, and of the necessity of follow-up examinations and individualized management to fit the needs and childbirth desires of the patients.

  9. Atypical lung carcinoid metastasis to the pituitary gland

    Directory of Open Access Journals (Sweden)

    Xiao-ling YAN

    2017-09-01

    Full Text Available Objective To study clinicopathological features, diagnosis and differential diagnosis of atypical lung carcinoid metastasis to the pituitary gland based on clinical data of one patient. Methods and Results A 81-year-old female presented headache and sudden blindness, and head MRI showed that there was a lesion at the saddle area. The tumor was detected at intrasellar and in grayish red during surgery. The diameter of tumor was 2 cm. The tumor was soft with no envelop at and well-defined margins, and insufficiency in blood supply. The tumor was removed completely along its edge. Under optical microscopy, the tumor was consisted of small round cells of the same size. Tumor cells were distributed around blood vessels in a nest manner or diffuse manner with brisk mitotic activity and focal necrosis. By using immunohistochemical staining, the tumor cells were diffusely positive for synaptophysin (Syn, CD56 and thyoid transcription factor - 1 (TTF - 1, focal positive for cytokeratin (CK and P53, and negative for growth hormone (GH, prolactin (PRL, adrenocorticotropic hormone (ACTH, follicle stimulating hormone (FSH, thyroid stimulating hormone (TSH, luteinizing hormone (LH, S-100 protein (S-100, thyroglobulin (TG and calcitonin. Ki?67 labeling index was about 33%. Conclusions Pituitary metastasis is a rare tumor, and only a few cases of atypical lung carcinoid metastasis to the pituitary gland have been reported. Definite diagnosis could be made by history, typical histopathological characteristics and immunohistochemical expressions. DOI: 10.3969/j.issn.1672-6731.2017.09.010

  10. Differentiation of regions with atypical oligonucleotide composition in bacterial genomes

    Directory of Open Access Journals (Sweden)

    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.

  11. 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

  12. Atypical dermatophilosis of sheep in Kenya : clinical communication

    Directory of Open Access Journals (Sweden)

    J.K. Wabacha

    2007-06-01

    Full Text Available An outbreak of an atypical form of ovine dermatophilosis affecting the lips and muzzle with a very high morbidity in weaners and hoggets in Kenya is reported. Clinical diagnosis of ovine dermatophilosis was made and confirmed by direct microscopic examination as well as isolation and identification of Dermatophilus congolensis from scab material from the affected sheep. The morbidity rate within the flock was 31.8 % (237 / 745 with 98.3 % (233 / 237 of the affected sheep being weaners and hoggets. No fatalities were recorded. The lesions, confined in the lips and the muzzle, were swelling of both the upper and lower lips, circumscribed lumps in the skin of both the upper and lower lips, oedema of the head and the submandibular area and scabs and crusts on the lips and muzzle. Within 1 week following treatment with long acting oxytetracycline (20 % at a rate of 20 mg/kg body weight, intramuscularly and a topical application of oxytetracycline spray, lumps regressed in size and were covered by dark-brown scabs. Removal of the dark-brown scabs revealed erythematous areas covered with purulent material and horny erythematous projections (papillae projecting from the surfaces. Within the 2nd week, the horny erythematous projections formed greyish scabs, which later peeled off leaving alopaecic areas around the lips. The paper highlights atypical dermatophilosis of sheep and we believe that this is the first published report of an outbreak of ovine dermatophilosis in Kenya.

  13. 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.

  14. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15

    Directory of Open Access Journals (Sweden)

    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.

  15. [The case of temporal lobes dysfunction in atypical psychiatric episodes].

    Science.gov (United States)

    Gabison-Hermann, D; Pelletier, A; Taleb, M; Bouleau, J-H

    2009-10-01

    A thirty-seven-year-old man, with temporal epilepsy, had transient, atypical psychiatric states with periods of time without any symptom. These episodes included hypersexuality with qualitative changes of sex drive, obscene behavior, exhibitionism, masturbation and modified sexual orientation. Blunted affect, inability to recognize significant persons (visual agnosia) were also detected. Magnetic resonance imaging was normal and interictal single-photon emission computed tomography (SPECT) showed decreased cerebral perfusion in both temporal lobes. The principal hypothesis is a Klüver-Bucy syndrome (KBS). In animals and human beings, this syndrome can be produced by bilateral temporal lobectomy. It is characterised by hypersexuality, visual agnosia, strong oral tendency, dietary changes, hypermetamorphosis and blunted affect. A minimum of three KBS elements suggests bilateral temporal dysfunction and supports the diagnosis. The syndrome may occur in herpes encephalitis, head trauma, Pick disease and temporal epilepsy. A single case of a patient, without any evidence for structural lesion in temporal lobes, is presented with many KBS symptoms, behavioral changes being due to complex partial seizure. Bitemporal dysfunction for this patient was confirmed by SPECT scan. On the other hand, the detected behavioral changes cannot be explained by temporal epilepsy alone. Postictal hypersexuality in temporal epilepsy consists in sexual arousal but not sexual aberrations as found in KBS. KBS following complex partial status epilepticus is a rare phenomenum. The case described here shows how atypical psychiatric episodes can cover complex neurologic disorders.

  16. The influence of atypical antipsychotic drugs on sexual function

    Directory of Open Access Journals (Sweden)

    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

  17. Atypical Callosal Morphology in Children with Speech Sound Disorder.

    Science.gov (United States)

    Luders, Eileen; Kurth, Florian; Pigdon, Lauren; Conti-Ramsden, Gina; Reilly, Sheena; Morgan, Angela T

    2017-12-26

    Speech sound disorder (SSD) is common, yet its neurobiology is poorly understood. Recent studies indicate atypical structural and functional anomalies either in one hemisphere or both hemispheres, which might be accompanied by alterations in inter-hemispheric connectivity. Indeed, abnormalities of the corpus callosum - the main fiber tract connecting the two hemispheres - have been linked to speech and language deficits in associated disorders, such as stuttering, dyslexia, aphasia, etc. However, there is a dearth of studies examining the corpus callosum in SSD. Here, we investigated whether a sample of 18 children with SSD differed in callosal morphology from 18 typically developing children carefully matched for age. Significantly reduced dimensions of the corpus callosum, particularly in the callosal anterior third, were observed in children with SSD. These findings indicating pronounced callosal aberrations in SSD make an important contribution to an understudied field of research and may suggest that SSD is accompanied by atypical lateralization of speech and language function. Copyright © 2017 IBRO. Published by Elsevier Ltd. All rights reserved.

  18. [Atypical Guillain-Barré syndrome: multiple cranial neuropathy].

    Science.gov (United States)

    Polo, J M; Alañá-García, M; Cacabelos-Pérez, P; Ortín-Castaño, A; Ciudad-Bautista, J; López-Alburquerque, J T

    Multiple cranial neuropathy is a condition rarely seen in everyday clinical practice. It has many different causes, and in spite of careful clinical investigation many cases remain of unknown aetiology. It is also considered to be an atypical variant, topographically circumscribed, of the Guillan Barr syndrome (GBS). A 23 years old man developed a progressive illness over ten days. He complained of diplopia, facial diplegia and a nasal voice. Subsequently, he also developed weakness of the neck and tongue muscles, dysphagia, abolition of reflexes of the left arm and right triceps reflex but without involvement of the respiratory muscles or other limbs. CSF studies showed slightly raised protein with no cells. Neurophysiological studies showed a demyelinating disorder with secondary axonal damage. In spite of further studies, no aetiological agent was found. These observations suggested this case is of a topographical variant of GBS. Such cases have also been classified as the Miller Fisher syndrome, pharyngo cervico brachial paralysis, are flexic paraparesia and bilateral lumbar polyradiculopathy. In view of the diversity of the clinical and biological characteristics of the cases reviewed, which may mean different aetiopathogeneses, we consider that a thorough search should be made for the aetiology before these conditions are labelled as atypical variants of GBS.

  19. 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. Copyright 2014 Prous Science, S.A.U. or its licensors. All rights reserved.

  20. The influence of atypical antipsychotic drugs on sexual function.

    Science.gov (United States)

    Just, Marek J

    2015-01-01

    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.

  1. Benign occipital lobe seizures: Natural progression and atypical evolution

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    Emilia Sbardella

    2016-10-01

    Full Text Available 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.

  3. Iron deficiency and cardiovascular disease

    NARCIS (Netherlands)

    von Haehling, Stephan; Jankowska, Ewa A.; van Veldhuisen, Dirk J.; Ponikowski, Piotr; Anker, Stefan D.

    2015-01-01

    Iron deficiency affects up to one-third of the world's population, and is particularly common in elderly individuals and those with certain chronic diseases. Iron excess can be detrimental in cardiovascular illness, and research has now also brought anaemia and iron deficiency into the focus of

  4. Vitamin B12 deficiency anemia

    Science.gov (United States)

    ... provide oxygen to body tissues. There are many types of anemia. Vitamin B12 deficiency anemia is a low red ... People with this type of anemia often do well with treatment. Long-term vitamin B12 deficiency can cause nerve damage. This may be permanent if ...

  5. Iron deficiency anemia in children.

    Science.gov (United States)

    Subramaniam, Girish; Girish, Meenakshi

    2015-06-01

    Iron deficiency is not just anemia; it can be responsible for a long list of other manifestations. This topic is of great importance, especially in infancy and early childhood, for a variety of reasons. Firstly, iron need is maximum in this period. Secondly, diet in infancy is usually deficient in iron. Thirdly and most importantly, iron deficiency at this age can result in neurodevelopmental and cognitive deficits, which may not be reversible. Hypochromia and microcytosis in a complete blood count (CBC) makes iron deficiency anemia (IDA) most likely diagnosis. Absence of response to iron should make us look for other differential diagnosis like β thalassemia trait and anemia of chronic disease. Celiac disease is the most important cause of true IDA not responding to oral iron therapy. While oral ferrous sulphate is the cheapest and most effective therapy for IDA, simple nonpharmacological and pharmacological measures can go a long way in prevention of iron deficiency.

  6. Interactions between copper deficiency, selenium deficiency and adriamycin toxicity

    Energy Technology Data Exchange (ETDEWEB)

    Fischer, J.; Tackett, R.; Johnson, M.A. (Univ. of Georgia, Athens (United States))

    1991-03-15

    The objective of this study was to test the hypothesis that there are interactions between copper (Cu) and selenium (Se) status, and adriamycin (ADR) toxicity. Male Sprague Dawley rats were fed Cu,Se adequate; Cu deficient, Se adequate ({minus}Cu); Cu adequate, Se deficient; or Cu,Se deficient diets for 38-41 days. ADR or saline (SAL) were administered weekly for the last 4 weeks of the study. Cu deficiency was confirmed by a 3-fold decrease in liver Cu,Zn-superoxide dismutase and liver Cu, and a 5-fold decrease in RBC Cu,Zn-SOD. Se deficiency was confirmed by a 10-fold decrease in liver glutathione peroxidase (GSH-Px). ADR, Cu deficiency and Se deficiency all caused EKG abnormalities. However, Cu and Se deficiencies did not enhance ADR's influence on EKGs. ADR increased lipid peroxidation in liver by 15% and in heart by 18% (NS). Cu deficiency decreased ADR-induced lipid peroxidation in heart tissue by 25%. ADR influenced Se status by significantly increasing heart GSH-Px, and Cu status by increasing liver Cu, plasma ceruloplasmin and liver Cu, Zn-SOD. These elevations in Cu,Zn-SOD and GSH-Px may be a consequence of the increased lipid peroxidation initiated by ADR. In {minus}Cu rats, ADR caused severe hemolytic anemia characterized by a 19% decrease in hematocrit and a 17-fold increase in splenic Fe. These data suggest that there are numerous interactions between ADR toxicity and Cu and Se status.

  7. 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…

  8. The relationship between atypical visual processing and social skills in young children with autism

    NARCIS (Netherlands)

    Hellendoorn, A.; Langstraat, I.; Wijnroks, L.; Buitelaar, J.K.; 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

  9. Atypical Activation during the Embedded Figures Task as a Functional Magnetic Resonance Imaging Endophenotype of Autism

    Science.gov (United States)

    Spencer, Michael D.; Holt, Rosemary J.; Chura, Lindsay R.; Calder, Andrew J.; Suckling, John; Bullmore, Edward T.; Baron-Cohen, Simon

    2012-01-01

    Atypical activation during the Embedded Figures Task has been demonstrated in autism, but has not been investigated in siblings or related to measures of clinical severity. We identified atypical activation during the Embedded Figures Task in participants with autism and unaffected siblings compared with control subjects in a number of temporal…

  10. Atypical speech and language development: a consensus study on clinical signs in the Netherlands

    NARCIS (Netherlands)

    Margot I. Visser-Bochane; Sijmen A. Reijneveld; Cees P. van der Schans; Ellen Gerrits; Margreet R. Luinge

    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

  11. 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.

    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

  12. 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…

  13. Embracing the Unusual: Feeling Tired and Happy Is Associated with Greater Acceptance of Atypical Ideas

    Science.gov (United States)

    Middlewood, Brianna L.; Gallegos, Jonathan; Gasper, Karen

    2016-01-01

    Three studies examined the hypothesis that feeling tired along with feeling happy might be linked to the acceptance of atypical ideas. Consistent with this hypothesis, across 3 studies and using 2 different measures of accepting atypical ideas, feelings of happiness and tiredness interacted. When people were high in tiredness, as happiness…

  14. Data-driven atypical profiles of depressive symptoms : Identification and validation in a large cohort

    NARCIS (Netherlands)

    Wanders, Rob B. K.; Wardenaar, Klaas J.; Penninx, Brenda W. J. H.; Meijer, Rob R.; de Jonge, Peter

    2015-01-01

    BACKGROUND: Atypical response behavior on depression questionnaires may invalidate depression severity measurements. This study aimed to identify and investigate atypical profiles of depressive symptoms using a data-driven approach based on the item response theory (IRT). METHODS: A large cohort of

  15. Insecure Attachment States of Mind and Atypical Caregiving Behavior among Foster Mothers

    Science.gov (United States)

    Ballen, Natasha; Bernier, Annie; Moss, Ellen; Tarabulsy, George M.; St-Laurent, Diane

    2010-01-01

    The current study examined the links between attachment state of mind (assessed with the Adult Attachment Interview) and atypical parenting behavior among 39 foster mothers. Insecure states of mind were associated with increased atypical parenting while interacting with the foster child, whereas unexpectedly, an unresolved state of mind was not.…

  16. A critical analysis of the new equal pay provisions relating to atypical ...

    African Journals Online (AJOL)

    International labour law will also be referred to. Keywords: Equal pay; Labour Relations Act; equal pay for atypical employees; atypical employment; sections 198A-198D of the Labour Relations Act; Agency Workers Regulations 2010; Fixed-term Employees (Prevention of Less Favourable Treatment) Regulations 2002; ...

  17. A novel Porphyromonas gingivalis enzyme: An atypical dipeptidyl peptidase III with an ARM repeat domain.

    Directory of Open Access Journals (Sweden)

    Altijana Hromić-Jahjefendić

    Full Text Available Porphyromonas gingivalis, an asaccharolytic Gram-negative oral anaerobe, is a major pathogen associated with adult periodontitis, a chronic infective disease that a significant percentage of the human population suffers from. It preferentially utilizes dipeptides as its carbon source, suggesting the importance of dipeptidyl peptidase (DPP types of enzyme for its growth. Until now DPP IV, DPP5, 7 and 11 have been extensively investigated. Here, we report the characterization of DPP III using molecular biology, biochemical, biophysical and computational chemistry methods. In addition to the expected evolutionarily conserved regions of all DPP III family members, PgDPP III possesses a C-terminal extension containing an Armadillo (ARM type fold similar to the AlkD family of bacterial DNA glycosylases, implicating it in alkylation repair functions. However, complementation assays in a DNA repair-deficient Escherichia coli strain indicated the absence of alkylation repair function for PgDPP III. Biochemical analyses of recombinant PgDPP III revealed activity similar to that of DPP III from Bacteroides thetaiotaomicron, and in the range between activities of human and yeast counterparts. However, the catalytic efficiency of the separately expressed DPP III domain is ~1000-fold weaker. The structure and dynamics of the ligand-free enzyme and its complex with two different diarginyl arylamide substrates was investigated using small angle X-ray scattering, homology modeling, MD simulations and hydrogen/deuterium exchange (HDX. The correlation between the experimental HDX and MD data improved with simulation time, suggesting that the DPP III domain adopts a semi-closed or closed form in solution, similar to that reported for human DPP III. The obtained results reveal an atypical DPP III with increased structural complexity: its superhelical C-terminal domain contributes to peptidase activity and influences DPP III interdomain dynamics. Overall, this

  18. Genetics Home Reference: adenosine deaminase 2 deficiency

    Science.gov (United States)

    ... Twitter Home Health Conditions Adenosine deaminase 2 deficiency Adenosine deaminase 2 deficiency Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized ...

  19. Genetics Home Reference: lactate dehydrogenase deficiency

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Lactate dehydrogenase deficiency Lactate dehydrogenase deficiency Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Lactate dehydrogenase deficiency is a condition that affects how the ...

  20. Genetics Home Reference: carnitine palmitoyltransferase I deficiency

    Science.gov (United States)

    ... SL, Raff ML. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. ... What is newborn screening? New Pages type 2 diabetes mitochondrial complex I deficiency mitochondrial complex V deficiency ...

  1. Facts about Vitamin K Deficiency Bleeding

    Science.gov (United States)

    ... label> Information For… Media Policy Makers Facts about Vitamin K Deficiency Bleeding Recommend on Facebook Tweet Share Compartir ... deficient ” or has a “ vitamin deficiency ”. What is vitamin K and why is it important? Vitamin K is ...

  2. Genetics Home Reference: corticosterone methyloxidase deficiency

    Science.gov (United States)

    ... deficiency corticosterone methyloxidase deficiency Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. ... methyloxidase deficiency can cause nausea, vomiting, dehydration, low blood pressure, extreme tiredness (fatigue), and muscle weakness. Affected infants ...

  3. The small GTPase RhoH is an atypical regulator of haematopoietic cells

    Directory of Open Access Journals (Sweden)

    Kubatzky Katharina F

    2008-09-01

    Full Text Available Abstract Rho GTPases are a distinct subfamily of the superfamily of Ras GTPases. The best-characterised members are RhoA, Rac and Cdc42 that regulate many diverse actions such as actin cytoskeleton reorganisation, adhesion, motility as well as cell proliferation, differentiation and gene transcription. Among the 20 members of that family, only Rac2 and RhoH show an expression restricted to the haematopoietic lineage. RhoH was first discovered in 1995 as a fusion transcript with the transcriptional repressor LAZ3/BCL6. It was therefore initially named translation three four (TTF but later on renamed RhoH due to its close relationship to the Ras/Rho family of GTPases. Since then, RhoH has been implicated in human cancer as the gene is subject to somatic hypermutation and by the detection of RHOH as a translocation partner for LAZ3/BCL6 or other genes in human lymphomas. Underexpression of RhoH is found in hairy cell leukaemia and acute myeloid leukaemia. Some of the amino acids that are crucial for GTPase activity are mutated in RhoH so that the protein is a GTPase-deficient, so-called atypical Rho GTPase. Therefore other mechanisms of regulating RhoH activity have been described. These include regulation at the mRNA level and tyrosine phosphorylation of the protein's unique ITAM-like motif. The C-terminal CaaX box of RhoH is mainly a target for farnesyl-transferase but can also be modified by geranylgeranyl-transferase. Isoprenylation of RhoH and changes in subcellular localisation may be an additional factor to fine-tune signalling. Little is currently known about its signalling, regulation or interaction partners. Recent studies have shown that RhoH negatively influences the proliferation and homing of murine haematopoietic progenitor cells, presumably by acting as an antagonist for Rac1. In leukocytes, RhoH is needed to keep the cells in a resting, non-adhesive state, but the exact mechanism has yet to be elucidated. RhoH has also been

  4. 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

    . 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...

  5. 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.

  6. Atypical choroid plexus papilloma: a case report and literature review

    Directory of Open Access Journals (Sweden)

    YAN Meng

    2012-12-01

    Full Text Available Objective To report a rare case of atypical choroid plexus papilloma and explore its clinical presentations and histopathological features, at the same time to take a review of relevant literature. Methods and Results A 1-year-old male patient presented with vomiting for 3 days after a sudden tumbling. Computed Tomography (CT showed a space-occupying lesion located in the left lateral ventricle. The lesion was with slight hyper-intensity signal compared to the adjacent brain parenchyma. Left lateral ventricle was enlarged and hydrocephalus was visible. Besides, edema occured in adjacent cerebral tissues. The surgical operation was performed under general anesthesia. During the operation, the tumor tissue was in heterogeneous consistency and rich blood supply, showing grey-white color, and attached to the choroid plexus. Microscopically, most tumor cells grew around the fibrovascular axis forming papillary pattern and showed no obvious atypia. However, in some areas, solid and sheet-like patterns were identified. Within these areas, increased cell density, mild to moderate cellular atypia and focal necrosis were appreciated. Some cells with acidophilic cytoplasm, few giant tumor cells and accidental mitosis were also seen, and the counting of mitosis was 2/10 HPF. Immunohistochemistry showed positive expression of pancytokeratin (PCK, synaptophysin (Syn, cytokeratin (CK8/18, vimentin (Vim and podoplanin (D2-40 in tumor cells. Integrase interactor-1 (INI-1 were also positively and focally expressed. The Ki-67 labeling index of tumor cells was 8% . S-100 protein, CK19, neuronal nuclei (Neu-N, glial fibrillary acidic protein (GFAP, epithelial membrane antigen (EMA, chromogranin A (CgA, CK7 and CK20 were negatively stained. The patient was followed up for 6 months after operation and no recurrence was found. Conclusion Atypical choroid plexus papilloma, the biological behavior of which is between benignancy and malignancy, is one of the rare tumors

  7. Morbidity and GH deficiency

    DEFF Research Database (Denmark)

    Stochholm, Kirstine; Laursen, Torben; Green, Anders

    2008-01-01

    OBJECTIVE: To estimate morbidity in Denmark in all patients with GH deficiency (GHD). DESIGN: Morbidity was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in the GHD patients were studied and additional morbidity noted. Diagnoses and dates of admissions were...... identified in the National Patient Registry. Lag time until first admission was used as a measure of morbidity. Patients were divided into childhood onset (CO) and adult onset (AO), discriminated by an age cut-off of 18 years at onset of GHD. METHOD: Sex- and cause-specific hazard ratios (HRs) in CO and AO...... GHD compared with controls. RESULTS: Total morbidity was significantly increased in the GHD patients. HR for CO males: 3.1 (95% confidence interval (CI): 2.7-3.7), CO females: 3.2 (95% CI: 2.6-3.9), AO males: 2.9 (95% CI: 2.6-3.2), and AO females: 3.2 (95% CI: 2.8-3.6). In 18 out of 20 chapters from...

  8. Microbleeds in atypical presentations of Alzheimer's disease: a comparison to dementia of the Alzheimer's type.

    Science.gov (United States)

    Whitwell, Jennifer L; Kantarci, Kejal; Weigand, Stephen D; Lundt, Emily S; Gunter, Jeffrey L; Duffy, Joseph R; Strand, Edythe A; Machulda, Mary M; Spychalla, Anthony J; Drubach, Daniel A; Petersen, Ronald C; Lowe, Val J; Jack, Clifford R; Josephs, Keith A

    2015-01-01

    Microbleeds in the brain have been shown to occur in Alzheimer's disease (AD), affecting approximately a third of subjects that present with typical dementia of the Alzheimer's type (DAT). However, little is known about the frequency or distribution of microbleeds in subjects with AD that present with atypical clinical presentations. To determine whether the frequency and regional distribution of microbleeds in atypical AD differs from that observed in subjects with DAT, and to determine whether microbleeds in atypical AD are associated with age, demographics, or cognitive impairment. Fifty-five subjects with amyloid-β deposition on Pittsburgh compound B (PiB) PET who presented with predominant language (n = 37) or visuospatial/perceptual (n = 18) deficits underwent T2*weighted MRI. These subjects were compared to 41 PiB-positive subjects with DAT. Microbleeds were identified and assigned a lobar location. The proportion of subjects with microbleeds did not differ between atypical AD (42%) and DAT (32%). However, atypical AD had larger numbers of microbleeds than DAT. In addition, the topographic distribution of microbleeds differed between atypical AD and DAT, with atypical AD showing the highest density of microbleeds in the frontal lobes. Among atypical AD, number of microbleeds was associated with age, but not gender or cognition. Microbleeds were more common in subjects with language (51%) versus visuospatial/perceptual deficits (22%). Microbleeds are relatively common in both DAT and atypical AD, although atypical AD subjects appear to be at particular risk for developing large numbers of microbleeds and for developing microbleeds in the frontal lobe.

  9. Genetics Home Reference: phosphoglycerate kinase deficiency

    Science.gov (United States)

    ... Genetic Testing Registry: Phosphoglycerate kinase 1 deficiency Other Diagnosis and Management Resources (1 link) Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency (PDF) General Information ...

  10. [Alpha-1 antitrypsin deficiency caused by Null mutation].

    Science.gov (United States)

    Perrin, J; Aimone-Gastin, I; Balduyck, M; Mercy, M; Filhine-Trésarrieu, P; Odou, M-F; Chaouat, A; Chabot, F

    2016-09-01

    Alpha-1 antitrypsin deficiency is a hereditary disease defined at the biological level by a serum alpha-1 antitrypsin level below 11μM/L. The null variants are characterized by undetectable circulating alpha-1 antitrypsin levels. Suspicion of a null variant requires the use of appropriate diagnostic techniques. We report the case of a 33-year old patient presenting with dyspnea on exertion, associated with a moderate airflow obstruction, incompletely reversible. His tobacco use was less than 3pack-years. The thoracic CT-scan showed emphysema. The serum alpha-1 antitrypsin level was collapsed. Phenotyping by isoelectrofocusing on agarose gels did not show any band. The study of the SERPINA1 gene, by PCR-sequence of the II, III, IV and V exons and the flanking intronic sequences, allowed identification of the NullQ0ourém allele in homozygous state. This mutation was found in heterozygous state in both parents of the index case and in one of his brothers. The index case showed a rapid aggravation of the airflow obstruction. In the case of a serum alpha-1 antitrypsin deficiency, the analysis of the phenotype of the protein by isoelectrofocusing must be performed as a first-line investigation. The detection of an atypical profile may suggest the presence of deficient alleles other than the PI S and PI Z alleles that can only be characterized by sequencing of the whole SERPINA1 gene. The patients carrying a null mutation have a high risk of severe chronic obstructive pulmonary disease. Copyright © 2015 SPLF. Published by Elsevier Masson SAS. All rights reserved.

  11. Typical and atypical shoulder impingement syndrome: diagnosis, treatment, and pitfalls.

    Science.gov (United States)

    Buss, Daniel D; Freehill, Michael Q; Marra, Guido

    2009-01-01

    The cause of shoulder impingement syndrome usually is considered to be compression of the rotator cuff and subacromial bursa against the anterolateral aspect of the acromion. The typical symptom is anterolateral shoulder pain that worsens at night and with overhead activity. However, the pain may be caused by factors other than a hooked acromion. Atypical impingement syndrome most commonly results from an os acromiale, a subcoracoid disorder, acromioclavicular joint undersurface hypertrophy, a deconditioned rotator cuff, or scapular dyskinesis. The correct diagnosis is made through the patient history and physical examination, with appropriate diagnostic imaging. Nonsurgical treatment is successful for most types of impingement syndrome; if it is not successful, all structural causes of mechanical impingement must be corrected.

  12. Post-Surgical Atypical FDG-PET Uptake

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    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

  13. Acylcarnitines profile best predicts survival in horses with atypical myopathy.

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    François Boemer

    Full Text Available Equine atypical myopathy (AM is caused by hypoglycin A intoxication and is characterized by a high fatality rate. Predictive estimation of survival in AM horses is necessary to prevent unnecessary suffering of animals that are unlikely to survive and to focus supportive therapy on horses with a possible favourable prognosis of survival. We hypothesized that outcome may be predicted early in the course of disease based on the assumption that the acylcarnitine profile reflects the derangement of muscle energetics. We developed a statistical model to prognosticate the risk of death of diseased animals and found that estimation of outcome may be drawn from three acylcarnitines (C2, C10:2 and C18 -carnitines with a high sensitivity and specificity. The calculation of the prognosis of survival makes it possible to distinguish the horses that will survive from those that will die despite severe signs of acute rhabdomyolysis in both groups.

  14. Atypical twin renal arteries with altered hilar anatomy

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    Loh HK

    2009-10-01

    Full Text Available Twin renal arteries (superior and inferior were encountered on the left side in a 58-year-old male Indian cadaver. Both the renal arteries took a tortuous course to the hilum. The inferior renal artery, labeled as the accessory renal artery travelled sinuously and anteriorly over the left renal vein to enter the inferior most part of the hilum. The superior artery, labeled as main renal artery bifurcated before the hilum and its two branches were placed anterior to the vein. Thus the normal anteroposterior disposition of structures viz. renal vein, renal artery and the renal pelvis was not seen. Such renal arteries having sinuous course with atypical sequence of structures at the hilum are of worth concern to the urologists performing renal angiography and to surgeons performing laparoscopies or renal transplantation.

  15. Atypical post-finasteride syndrome: A pharmacological riddle.

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    Gupta, Anita K; Sharma, Neetu; Shukla, Prashant

    2016-01-01

    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.

  16. Gaze Perception Develops Atypically in Children with Autism

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    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.

  17. Atypical diabetes in children: ketosis-prone type 2 diabetes

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    Vaibhav, Atul; Mathai, Mathew; Gorman, Shaun

    2013-01-01

    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. PMID:23302548

  18. Atypical magnetic resonance imaging features in subacute sclerosing panencephalitis

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    Biplab Das

    2016-01-01

    Full Text Available Objectives: Subacute sclerosing panencephalitis (SSPE is rare chronic, progressive encephalitis that affects primarily children and young adults, caused by a persistent infection with measles virus. No cure for SSPE exists, but the condition can be managed by medication if treatment is started at an early stage. Methods and Results: Heterogeneity of imaging findings in SSPE is not very uncommon. But pial and gyral enhancements are very rarely noticed. Significant asymmetric onset as well as pial-gyral enhancements is not reported. Herein we present a case of 16 years adolescent of SSPE having remarkable asymmetric pial-gyral enhancements, which were misinterpreted as tubercular infection. Conclusion: Early diagnosis and treatment is encouraging in SSPE, although it is not curable with current therapy. Clinico-radiological and electrophysiological correlation is very important in diagnosis of SSPE, more gravely in patients having atypical image findings as in our index case.

  19. Atypical magnetic resonance imaging features in subacute sclerosing panencephalitis.

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    Das, Biplab; Goyal, Manoj Kumar; Modi, Manish; Mehta, Sahil; Chakravarthi, Sudheer; Lal, Vivek; Vyas, Sameer

    2016-01-01

    Subacute sclerosing panencephalitis (SSPE) is rare chronic, progressive encephalitis that affects primarily children and young adults, caused by a persistent infection with measles virus. No cure for SSPE exists, but the condition can be managed by medication if treatment is started at an early stage. Heterogeneity of imaging findings in SSPE is not very uncommon. But pial and gyral enhancements are very rarely noticed. Significant asymmetric onset as well as pial-gyral enhancements is not reported. Herein we present a case of 16 years adolescent of SSPE having remarkable asymmetric pial-gyral enhancements, which were misinterpreted as tubercular infection. Early diagnosis and treatment is encouraging in SSPE, although it is not curable with current therapy. Clinico-radiological and electrophysiological correlation is very important in diagnosis of SSPE, more gravely in patients having atypical image findings as in our index case.

  20. Incomplete Stevens-Johnson syndrome secondary to atypical pneumonia.

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    Ramasamy, Anantharaman; Patel, Chiraush; Conlon, Christopher

    2011-10-04

    Steven-Johnson syndrome is a common condition characterised by erythematous target lesions on the skin and involvement of the oral mucosa, genitals and conjunctivae. It has been documented as one of the extra-pulmonary manifestations of Mycoplasma pneumoniae infection. Recently, there has been several documentation of an incomplete presentation of this syndrome - without the typical rash but with mucosal, conjunctival and genital involvement. Our case illustrates that the incomplete Steven-Johnson syndrome may present with oral mucosal and conjunctival involvement alone without skin or genital involvement. This important clinical diagnosis should not be missed due to its atypical presentation. Treatment of Steven-Johnson syndrome remains supportive along with treating the underlying infection if recognised.