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Sample records for diagnose bing-neel syndrome

  1. BING-NEEL SYNDROME: ILLUSTRATIVE CASES AND COMPREHENSIVE REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    Marzia Varettoni

    2017-10-01

    Full Text Available The Bing-Neel syndrome is a rare neurological complication of Waldenström’s Macroglobulinemia which results from a direct involvement of central nervous system by malignant lymphoplasmacytic cells. The clinical suspicion of Bing-Neel syndrome may be difficult because neurologic symptoms are heterogeneous, non specific and sometimes underhand. A definitive diagnosis of Bing-Neel syndrome can be confidently made using brain and spinal cord magnetic resonance imaging as well as histopathology and/or cerebrospinal fluid analysis to confirm the neoplastic infiltration of central nervous system. The detection in the cerebrospinal fluid of patients with Bing-Neel syndrome of the MYD88 (L265P somatic mutation, which is highly recurrent in Waldenström’s Macroglobulinemia, revealed useful for the diagnosis and monitoring of central nervous system involvement. Despite recommendations recently published, there is still no clear consensus on treatment of Bing-Neel syndrome, which includes systemic immunochemotherapy, intrathecal chemotherapy and brain irradiation as possible options. Ibrutinib, a Bruton kinase inhibitor highly active in patients with Waldenström’s Macroglobulinemia, has been recently added to the therapeutic armamentarium of Bing-Neel syndrome due to its ability to pass the blood-brain barrier. However, prospective clinical trials are eagerly awaited with the aim to define the optimal treatment strategy.  Here we describe four illustrative cases of Bing-Neel syndrome diagnosed and treated at our Institution and review the literature on this topic.

  2. Bing-Neel Syndrome: Illustrative Cases and Comprehensive Review of the Literature

    OpenAIRE

    Varettoni, Marzia; Defrancesco, Irene; Diamanti, Luca; Marchioni, Enrico; Farina, Lisa Maria; Pichiecchio, Anna

    2017-01-01

    The Bing-Neel syndrome is a rare neurological complication of Waldenström’s Macroglobulinemia which results from a direct involvement of central nervous system by malignant lymphoplasmacytic cells. The clinical suspicion of Bing-Neel syndrome may be difficult because neurologic symptoms are heterogeneous, non specific and sometimes underhand. A definitive diagnosis of Bing-Neel syndrome can be confidently made using brain and spinal cord magnetic resonance imaging as well as histopathology an...

  3. Diagnosing Lynch Syndrome

    LENUS (Irish Health Repository)

    Gleeson, J

    2016-11-01

    Lynch Syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is a hereditary condition that increases an individual’s risk of developing a constellation of cancers. These most commonly arise in the colon, but also involve other solid organs such as the endometrium and ovaries in women, the stomach, brain and the skin. Ireland’s small population offers an opportunity to identify all those with Lynch Syndrome (LS) in the country, which would represent a powerful preventive opportunity to meaningfully impact on the incidence of cancer in Ireland.

  4. How Do Health Care Providers Diagnose Cushing's Syndrome?

    Science.gov (United States)

    ... Email Print How do health care providers diagnose Cushing syndrome? Diagnosing Cushing syndrome can be complex and difficult. This syndrome is ... health care provider may try different tests. Diagnosing Cushing syndrome often requires several steps. If you are being ...

  5. Diagnosing the tight building syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Rogers, S.A.

    1987-12-01

    Formaldehyde is but one of many chemicals capable of causing the tight building syndrome or environmentally induced illness (EI). The spectrum of symptoms it may induce includes attacks of headache, flushing, laryngitis, dizziness, nausea, extreme weakness, arthralgia, unwarranted depression, dysphonia, exhaustion, inability to think clearly, arrhythmia or muscle spasms. The nonspecificity of such symptoms can baffle physicians from many specialties. Presented herein is a simple office method for demonstrating that formaldehyde is among the etiologic agents triggering these symptoms. The very symptoms that patients complain of can be provoked within minutes, and subsequently abolished, with an intradermal injection of the appropriate strength of formaldehyde. This injection aids in convincing the patient of the cause of the symptoms so he can initiate measure to bring his disease under control.

  6. How Do Health Care Providers Diagnose Turner Syndrome?

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    ... Email Print How do health care providers diagnose Turner syndrome? Health care providers use a combination of physical ... the X chromosomes is partially or completely missing. Turner syndrome also can be diagnosed during pregnancy by testing ...

  7. How Do Health Care Providers Diagnose Klinefelter Syndrome?

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    ... Email Print How do health care providers diagnose Klinefelter syndrome (KS)? The only way to confirm the presence ... in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: A Copenhagen experience. Acta Paediatrica , Jun;100(6), ...

  8. How Do Health Care Providers Diagnose Polycystic Ovary Syndrome (PCOS)?

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    ... diagnosed? Is there a cure? What are the treatments? NICHD Research Information Research Goals Activities and Advances Scientific Articles Find a Study More Information Other FAQs Resources Home Health A to Z List Polycystic Ovary Syndrome (PCOS) About How is it diagnosed? Share Facebook ...

  9. Hepatorenalt syndrom: diagnose, behandling og forebyggelse

    DEFF Research Database (Denmark)

    Egerod Israelsen, Mads; Gluud, Lise Lotte; Bendtsen, Flemming

    2013-01-01

    Cirrhosis, ascites and renal impairment are associated with high morbidity and mortality. The hepatorenal syndrome (HRS) is a type of renal failure that affects patients with cirrhosis and ascites. This paper provides an update on evidence-based interventions in HRS. A number of factors can...

  10. Hepatorenalt syndrom: diagnose, behandling og forebyggelse

    DEFF Research Database (Denmark)

    Egerod Israelsen, Mads; Gluud, Lise Lotte; Bendtsen, Flemming

    2013-01-01

    Cirrhosis, ascites and renal impairment are associated with high morbidity and mortality. The hepatorenal syndrome (HRS) is a type of renal failure that affects patients with cirrhosis and ascites. This paper provides an update on evidence-based interventions in HRS. A number of factors can...... precipitate HRS. The monitoring, prevention, early detection, and correct treatment of these are essential. Terlipressin combined with albumin is the first-line treatment of type 1 HRS. In type 2 HRS with refractory ascites, liver transplantation and TIPS should be considered....

  11. Advances in Tourette syndrome: diagnoses and treatment.

    Science.gov (United States)

    Serajee, Fatema J; Mahbubul Huq, A H M

    2015-06-01

    Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders. Premonitory sensory urges before tic execution and desire for "just-right" perception are central features. The pathophysiology involves cortico-striato-thalamo-cortical circuits and possibly dopaminergic system. TS is considered a genetic disorder but the genetics is complex and likely involves rare mutations, common variants, and environmental and epigenetic factors. Treatment is multimodal and includes education and reassurance, behavioral interventions, pharmacologic, and rarely, surgical interventions. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Moya - Moya syndrome: Diagnose by means of magnetic resonance

    International Nuclear Information System (INIS)

    Borrero Borrero, Leonidas; Henao Gomez, Liliana; Hernandez Castro, John Jairo

    1997-01-01

    We present a case of moya-moya syndrome diagnosed by means of study of magnetic resonance angiography (MRA) in an eight-year old patient with Seckel syndrome and progressive neurological deficit of several years, characterized by left hemi paresis and gait limitation as well as microcephalus. Previous imaging studies included cerebral CT (CCT) that showed several infarctions, without affecting a particular vascular territory. The MRA study was carried out in a 1.5 t system. Besides confirming the CCT findings, it demonstrated characteristic images of the moya - moya syndrome. This is the first case published in Colombia

  13. Diagnosing lynch syndrome in absence of colorectal cancer.

    Science.gov (United States)

    Lynch, Henry T; Knezetic, Joseph; Lanspa, Stephen

    2012-11-01

    There are many ways in which a diagnosis of Lynch syndrome can be made, most prominent of which is family history, presence of cancer, high microsatellite instability, immunohistochemistry, and a mismatch repair germline mutation. There are at least four molecular pathways for colorectal cancer carcinogenesis: 1) adenoma-carcinoma sequence; 2) hereditary microsatellite instability; 3) serrated pathway; 4) epidermal growth factor receptor. The answer to diagnosing Lynch syndrome in the absence of colorectal cancer may be partially based upon the phenotypic characteristics of the colonic polyps should they be identified at colonoscopy, specifically their phenotypic characteristics of location, size, histology, number, and age of polyp onset.

  14. Cohen syndrome diagnosed using microarray comparative genomic hibridization

    Directory of Open Access Journals (Sweden)

    Saldarriaga-Gil, Wilmar

    2017-10-01

    Full Text Available Cohen syndrome (CS is an uncommon autosomal recessive genetic disorder attributed to damage on VPS13B gene, locus 8q22-q23. Characteristic phenotype consists of intellectual disability, microcephaly, facial dysmorphism, ophthalmic abnormalities, truncal obesity and hipotony. Worldwide, around 150 cases have been published, mostly in Finish patients. We report the case of a 3 year-old male, with short height, craniosynostosis, facial dysmorphism, hipotony, and developmental delay. He was diagnosed with Cohen syndrome using Microarray Comparative Genomic Hibridization (aCGH that showed homozygous deletion of 0.153 Mb on 8q22.2 including VPS13B gene, OMIM #216550. With this report we contribute to enlarge epidemiological databases on an uncommon genetic disorder. Besides, we illustrate on the contribution of aCGH to the etiological diagnosis of patients with unexplained intellectual disability, delayed psychomotor development, language difficulties, autism and multiple congenital anomalies.

  15. Cochlear Implants in Children Diagnosed with CHARGE Syndrome

    Directory of Open Access Journals (Sweden)

    Cardoso, Carolina Costa

    2013-09-01

    Full Text Available Introduction: The CHARGE association (coloboma of the eyes; heart disease; atresia of the choanae; retarded growth and development; genital hypoplasia/genitourinary anomalies; ear anomalies and/or hearing loss was first described in 1979 by Hall, and among its main features is hearing loss. This study presents a case aiming to establish relationships between performance on Infant Toddler Meaningful Auditory Integration Scale (IT-MAIS and Meaningful Use of Speech Scales (MUSS tests and the analysis of hearing and language categories of a patient diagnosed with CHARGE syndrome, before and after cochlear implant (CI surgery. Case Report: A 7-year-old girl was diagnosed with CHARGE. She had severe sensorineural hearing loss and was a prelingual unilateral CI user. We analyzed data from the patient's medical records regarding therapies and video recordings. Results: The patient showed positive results in all evaluations after CI. IT-MAIS rose from 5 to 90% following the use of CI. MUSS also rose, from 75 to 72.5%, after use of CI. Classification of Auditory Skills changed from category 1 before use of CI to category 6 after use of CI. Classification of Language Skills changed from category 1 before use of CI to category 3 after use of CI. The CI is an aid but there are many factors in the therapeutic process, and great heterogeneity in individuals diagnosed with CHARGE should be investigated. Conclusion: The development of listening and language skills after CI use was demonstrated by IT-MAIS and MUSS tests, and categorization of speech and hearing in this child with a diagnosis of CHARGE syndrome shows that CI can be an effective technological resource to provide information on hearing as one source for language construction.

  16. Diagnosing and treating premenstrual syndrome in five western nations.

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    Weisz, George; Knaapen, Loes

    2009-04-01

    Premenstrual syndrome (PMS) and its derivative Premenstrual Dysphoric Disorder (PMDD) are controversial medical diagnoses. On one hand they are ubiquitous in English-language cultures; on the other they are for many emblematic of unnecessary medicalization of natural physiological processes. In this paper, we use data produced by IMS, a health care information and research firm, to analyze office-based medical practice related to PMS/PMDD in five countries. We come to several conclusions: 1. Relatively few doctors in any country diagnose women as suffering from PMS/PMDD, despite significant national variations in frequency of diagnosis; 2. Women diagnosed with this condition are usually prescribed a medication no matter what kind of specialist they see; and 3. In North America and the UK, practitioners generally follow USA practice guidelines which favour use of anti-depressive drugs like SSRIs but this is not the case in France and Germany which exhibit unique prescription patterns. In France hormonal treatment and analgesics dominate; in Germany the plant extract Vitex agnus-castus, considered an alternative therapy in much of the English-speaking world, is most common. We go on to discuss the relevance of these conclusions to discussions of variations in medical practices, to the existing PMS literature that claims high rates of prevalence for this condition, and to recent studies of "demedicalization" in certain domains.

  17. Prognostic value of SPECT in newly diagnosed symptomatic west syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Goto, Megumi; Suzuki, Yasuhiro; Kato, Tomomi; Futagi, Yasuyuki [Osaka Medical Center and Research Inst. for Maternal and Child Health, Izumi (Japan)

    1999-07-01

    In 19 cases with newly diagnosed symptomatic West syndrome, we assessed interictal regional cerebral blood flow (rCBF) before ACTH therapy with single photon emission computed tomography (SPECT). Based on the SPECT findings, we divided these cases into 3 groups: normal rCBF (Group A, 7 cases), abnormal rCBF corresponding to cerebral lesions on MRI and CT (Group B, 6 cases), and abnormal rCBF in areas different from lesions on MRI and CT (Group C, 6 cases). We compared clinical features, response to initial treatment, and short-term outcome among these 3 groups. No significant differences were found in clinical characteristics (sex, age of onset, prior seizures before onset of spasms, EEG findings). Four cases in Group B (67%) and 5 in Group C (83%) showed complete cessation of spasms after initial treatment (high dose vitamin B{sub 6}{yields}zonisamide{yields}ACTH therapy), while in Group A only 2 patients (29%, p>0.05; compared to Group B or Group C) responded. Although not statistically significant, short-term prognosis (both seizures and development) after a mean follow-up of 2 years and 8 months was also worst in Group A. Our results suggest that normal SPECT findings may be predictive of unfavorable prognosis in infants with symptomatic West syndrome. (author)

  18. Fragile X syndrome – a common disease rarely diagnosed

    Directory of Open Access Journals (Sweden)

    Lisik Malgorzata Zofia

    2017-03-01

    Full Text Available Fragile X syndrome (FXS is a single-gene disorder with a broad spectrum of involvement, including cognitive and behavioural impairments of varying degrees with specific physical features and with strong association with autism. The study was conducted on 23 males (10-32 years old who had full mutation in the FMR1 gene. A complete medical evaluation, including medical history, family history, psychological testing and physical examination was conducted on each subject. Three of the FXS patients (13% were isolated cases of mental retardation in the family. The remaining 20 FXS patients belonged to 15 families, where there were other mentally retarded family members present. The degree of mental retardation (MR varied. Mild MR was diagnosed in 1/23 (4.35%, moderate MR in 12/23 (52.17%, severe MR in 10/23 (43.48 %. Moreover, autism spectrum disorder was diagnosed in 5/23 (21.74% FXS patients. Analysis of the BMI showed that in FXS patients, 14 of 23 (60.68% had too high body weight - 9/23 (39.13% were overweight and 5/23 (21.74% were obese. The diagnosis of FXS is difficult because of nonspecific symptoms, yet early diagnosis is crucial for early intervention and genetic counseling. The risk of recurrence is 50%.

  19. [Microalbuminuria in pediatric patients diagnosed with hemolytic uremic syndrome].

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    Cubillos C, María Paz; Del Salas, Paulina; Zambrano, Pedro O

    2015-01-01

    Hemolytic uremic syndrome (HUS) is characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. It is the leading cause of acute kidney failure in children under 3 years of age. A variable number of patients develop proteinuria, hypertension, and chronic renal failure. To evaluate the renal involvement in pediatric patients diagnosed with HUS using the microalbumin/creatinine ratio. Descriptive concurrent cohort study that analyzed the presence of microalbuminuria in patients diagnosed with HUS between January 2001 and March 2012, who evolved without hypertension and normal renal function (clearance greater than 90ml/min using Schwartz formula). Demographic factors (age, sex), clinical presentation at time of diagnosis, use of antibiotics prior to admission, and need for renal replacement therapy were evaluated. Of the 24 patients studied, 54% were male. The mean age at diagnosis was two years. Peritoneal dialysis was required in 45%, and 33% developed persistent microalbuminuria. Antiproteinuric treatment was introduce in 4 patients, with good response. The mean follow-up was 6 years (range 6 months to 11 years). The serum creatinine returned to normal in all patients during follow up. The percentage of persistent microalbuminuria found in patients with a previous diagnosis of HUS was similar in our group to that described in the literature. Antiproteinuric treatment could delay kidney damage, but further multicenter prospective studies are necessary. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  20. How Do Health Care Providers Diagnose Rett Syndrome?

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    ... Research Information Find a Study Resources and Publications Klinefelter Syndrome (KS) Condition Information NICHD Research Information Find a ... Rett syndrome occur with another genetic condition called Klinefelter syndrome , in which a boy has two X chromosomes ...

  1. Dynamiske ekg-forandringer ved Brugada-syndrom, en overset diagnose?

    DEFF Research Database (Denmark)

    Tfelt-Hansen, Jacob; Svendsen, Jesper Hastrup; Hofman-Bang, Jacob

    2005-01-01

    Brugada syndrome is a primary electrical disease involving a wide spectrum of phenotypes. The hallmark of Brugada syndrome is the ST elevation in leads V1 to V3. We present three cases of Brugada syndrome. The first patient was diagnosed via routine ECG and a programmed electric stimulation...

  2. Considerations in Diagnosing Usher's Syndrome: RP and Hearing Loss.

    Science.gov (United States)

    Vernon, McCay

    1982-01-01

    The association of hearing loss and retinitis pigmentosa has been generally recognized as the genetic disorder of Usher's syndrome. The article reviews findings of this syndrome and suggests strategies for dealing with the clinical and psychological problems displayed by Usher's syndrome patients. (Author/SW)

  3. Where Lies the Fault in Diagnosing Dhat Syndrome among Females? Understanding through a Case Study

    OpenAIRE

    Kar, Sujita Kumar; Singh, Amit

    2017-01-01

    Dhat syndrome is a culture-bound syndrome of South-East Asia, common in young men. However, similar entity has also been described in female patients who attribute their symptoms to nonpathological or physiological vaginal discharge. The current diagnostic system for psychiatric illnesses does not encompass Dhat syndrome in females, and so these group of patients receive alternative diagnoses such as somatoform disorder or depression. As a result of which the focus of unique Dhat syndrome-cen...

  4. Where Lies the Fault in Diagnosing Dhat Syndrome among Females? Understanding through a Case Study.

    Science.gov (United States)

    Kar, Sujita Kumar; Singh, Amit

    2017-01-01

    Dhat syndrome is a culture-bound syndrome of South-East Asia, common in young men. However, similar entity has also been described in female patients who attribute their symptoms to nonpathological or physiological vaginal discharge. The current diagnostic system for psychiatric illnesses does not encompass Dhat syndrome in females, and so these group of patients receive alternative diagnoses such as somatoform disorder or depression. As a result of which the focus of unique Dhat syndrome-centered management gets weakened, affecting the clinical outcome. This case study focuses on the diagnostic dilemmas related to Dhat syndrome in females and pitfalls in the current diagnostic system.

  5. Parotid Gland Biopsy, the Alternative Way to Diagnose Sjogren Syndrome

    NARCIS (Netherlands)

    Spijkervet, Fred. K.L.; Haacke, Erlin; Kroese, Frans G. M.; Bootsma, Hendrika; Vissink, Arjan

    Salivary gland biopsy is a technique broadly applied for the diagnosis of Sjogren syndrome (SS), lymphoma in SS, and connective tissue disorders (sarcoidosis, amyloidosis). In SS characteristic histology findings are found, including lymphocytic infiltration surrounding the excretory ducts in

  6. LEOPARD syndrome: You could be the first one to diagnose!

    Directory of Open Access Journals (Sweden)

    Pallavi Urs

    2015-01-01

    Full Text Available Leopard syndrome is a rare genetic disease complex associated with multiple anomalies. The main anomalies are summarized in the acronym LEOPARD in which each letter corresponds to mnemonic for the major features of this disorder:multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensory neural Deafness. A Four year old male patient reported with the chief complaint of decayed anterior tooth without any relevant past medical history. Based on the clinical features; the child was subjected to genetic and general physical appraisal which helped in identifying Leopard syndrome. A multidisciplinary approach by the pedodontist and medical consultants aided in the identification and management of this rare syndrome. LEOPARD syndrome has been rarely reported in the diseases associated with oro-dental or craniofacial anomalies. In this case report we describe these anomalies and discuss the relationship between them and the proposed etiology of the disease.

  7. Babinski-Nageotte Syndrome Diagnosed in Postpartum Period

    Directory of Open Access Journals (Sweden)

    Serdar Oruç

    2016-01-01

    Full Text Available Babinski-Nageotte Syndrome (BNS is one of the brainstem syndromes characterized by muscle weakness in the opposite half of the body with classic Wallenberg findings. According to our literature survey, only a few cases have been reported and none of them was in the postpartum period. We report a case of a typical BNS in a postpartum woman with an ischemic lesion in the medulla oblongata shown on magnetic resonance imaging.

  8. Consistency between Research and Clinical Diagnoses of Autism among Boys and Girls with Fragile X Syndrome

    Science.gov (United States)

    Klusek, J.; Martin, G. E.; Losh, M.

    2014-01-01

    Background: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting…

  9. Validating diagnoses from hospital discharge registers change risk estimates for acute coronary syndrome

    DEFF Research Database (Denmark)

    Joensen, Albert Marni; Schmidt, E.B.; Dethlefsen, Claus

    2007-01-01

    of acute coronary syndrome (ACS) diagnoses identified in a hospital discharge register changed the relative risk estimates of well-established risk factors for ACS. Methods All first-time ACS diagnoses (n=1138) in the Danish National Patient Registry were identified among male participants in the Danish...

  10. Medial tibial stress syndrome can be diagnosed reliably using history and physical examination

    NARCIS (Netherlands)

    Winters, M.; Bakker, E. W. P.; Moen, M. H.; Barten, C. C.; Teeuwen, R.; Weir, A.

    2017-01-01

    The majority of sporting injuries are clinically diagnosed using history and physical examination as the cornerstone. There are no studies supporting the reliability of making a clinical diagnosis of medial tibial stress syndrome (MTSS). Our aim was to assess if MTSS can be diagnosed reliably, using

  11. Predictive value of acute coronary syndrome discharge diagnoses in the Danish national patioent registry

    DEFF Research Database (Denmark)

    Joensen, Albert Marni; Jensen, Majken K.; Overvad, Kim

    Background: Updated data on the predictive value of acute coronary syndrome (ACS) diagnoses, including unstable angina pectoris, myocardial infarction and cardiac arrest, in hospital discharge registries are sparse. Design: Validation study. Methods: All first-time ACS diagnoses in the Danish...

  12. [Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

    Science.gov (United States)

    Henningsen, Marie Krab; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael

    2015-08-03

    Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies.

  13. How Do Health Care Providers Diagnose Down Syndrome?

    Science.gov (United States)

    ... National Human Genome Research Institute. (2010). Learning about Down syndrome . Retrieved June 11, 2012, from http://www.genome.gov/19517824#3 « How many people are affected? What are common treatments? » Related A-Z Topics Intellectual and Developmental Disabilities ( ...

  14. Diagnosing Alzheimer's Dementia in Down Syndrome: Problems and Possible Solutions

    Science.gov (United States)

    Nieuwenhuis-Mark, Ruth E.

    2009-01-01

    It is widely accepted that people with Down syndrome are more likely than the general population to develop Alzheimer's dementia as they age. However, the diagnosis can be problematic in this population for a number of reasons. These include: the large intra-individual variability in cognitive functioning, the different diagnostic and…

  15. Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses

    Science.gov (United States)

    Berry-Kravis, Elizabeth; Raspa, Melissa; Loggin-Hester, Lisa; Bishop, Ellen; Holiday, David; Bailey, Donald B., Jr.

    2010-01-01

    A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and 10 years, and were…

  16. The Sherlock Holmes approach to diagnosing fetal syndromes by ultrasound.

    Science.gov (United States)

    Benacerraf, Beryl B

    2012-03-01

    Prenatal detection of fetal anomalies is one of the major goals of obstetrical ultrasound. The primary reason is the options that are often offered to the family and caregivers from therapy in selected cases to special care at delivery to termination of the pregnancy. An important aspect of the diagnosis is to determine whether the anomaly is expected to be lethal or associated with severe physical or mental impediments. This goal is often difficult to accomplish without a clear diagnosis. A systematic approach is essential when an abnormality is first identified sonographically to help the practitioner discover certain patterns of associated defects. The use of this logical and stepwise strategy facilitates arriving at the correct diagnosis of specific syndrome by taking all anatomic findings into account. This process focuses on first pinpointing a key or sentinel feature specific to each syndrome and which can anchor the diagnosis.

  17. GIANT CELL AORTITIS DIAGNOSED WITH PET/CT - PARANEOPLASTIC SYNDROME?

    Science.gov (United States)

    Bakula, Marija; Cerovec, Mislav; Mayer, Miroslav; Huić, Dražen; Anić, Branimir

    2016-05-01

    Vasculitides are heterogenic group of autoimmune connective tissue diseases which often present difficulties in early diagnosing. Giant cell arteritis is vasculitis of large and medium arteries. It predominantly presents with symptoms of affection of the external carotid artery branches. Furthermore, the only symptoms can be constitutional. In clinical practice, vasculitides are sometimes considered as paraneoplastic, but no definite association with malignancies has been established and the mechanisms are still debated. The gold standard for diagnosing giant cell arteritis is a positive temporal artery biopsy, but the results can often be false negative. Additionally, more than half of the patients have aorta and its main branches affected. Considering aforementioned, imaging studies are essential in confirming large-vessel vasculitis, amongst which is highly sensitive PET/CT. We present the case of a 70-year-old female patient with constitutional symptoms and elevated sedimentation rate. After extensive diagnostic tests, she was admitted to our Rheumatology unit. Aortitis of the abdominal aorta has been confirmed by PET/CT and after the introduction of glucocorticoids the disease soon went into clinical and laboratory remission. Shortly after aortitis has been diagnosed, lung carcinoma was revealed of which the patient died. At the time of the comprehensive diagnostics, there was no reasonable doubt for underlying malignoma. To the best of our knowledge, there are no recent publications concerning giant cell arteritis and neoplastic processes in the context of up-to-date non-invasive diagnostic methods (i.e. PET/CT). In the light of previous research results, we underline that the sensitivity of PET/CT is not satisfactory when estimating cancer dissemination in non-enlarged lymph nodes and that its value can at times be overestimated.

  18. The dexametazone suppression test (DST) for diagnosing of depression syndrome

    International Nuclear Information System (INIS)

    Rejopachi P, L.A.

    1984-09-01

    The dexametazone suppression test (DST) is a very valuable neuroendocrin assay as auxiliar method for diagnosing the depression. The serum cortisol levels of 20 patients of the Hospital de Salud Mental and of a control group were determined by radio-immunoassay technique. Normal concentration was defined as 5 micrograms per deciliter. Among depressed patients the average value was 9.8865 micro-grams per deciliter; having the test a 85% of positiveness. Among the control group the average value found was 1.167 micro-grams per deciliter, with a 20% of positiveness for the test. (author)

  19. BORDERLINE PERSONALITY DISORDER IN THE MEDICAL SETTING: Suggestive Behaviors, Syndromes, and Diagnoses.

    Science.gov (United States)

    Sansone, Randy A; Sansone, Lori A

    2015-01-01

    Borderline personality disorder is a personality dysfunction that is characterized by disinhibition and impulsivity, which oftentimes manifest as self-regulation difficulties. Patients with this disorder have always been present in medical settings, but have been described as "difficult patients" rather than patients with borderline personality disorder. According to empirical findings, a number of behaviors and medical syndromes/diagnoses are suggestive of borderline personality disorder. Suggestive behaviors in the medical setting may include aggressive or disruptive behaviors, the intentional sabotage of medical care, and excessive healthcare utilization. Suggestive medical syndromes and diagnoses in the medical setting may include alcohol and substance misuse (including the abuse of prescription medications), multiple somatic complaints, chronic pain, obesity, sexual impulsivity, and hair pulling. While not all-inclusive or diagnostic, these behaviors and syndromes/diagnoses may invite further clinical evaluation of the patient for borderline personality disorder.

  20. A case of aortitis syndrome diagnosed by digital subtraction angiography

    International Nuclear Information System (INIS)

    Tamaki, Atsushi; Sakai, Masashi; Yano, Kimio

    1984-01-01

    A 45-year-old female was admitted to our hospital with complaints of anemia, hypertension, and a dull, throbbing pain in the right side of the neck. On physical examination, a pulsating tumor in the right side of the neck and a ''to-and-fro'' murmur at the right 2nd intercostal space were noted. Laboratory tests revealed ESR 90 mm/hour and CRP 5+. Digital subtraction angiography (DSA) showed an aneurysm distal to the narrowing of the right common carotid artery, in addition to winding and narrowing of the right vertebral and the left common carotid arteries. These findings are typical of Type I aortitis syndrome. Aortogram showed aortic regurgitation (AR). Furthermore, we found the presence of HLA Bw52 and a conspicuous increase of tromboxane B 2 . Treatment involving a combination of prednisolone, azathioprine and estriol was effective, resulting in marked improvement of the patient's general condition as well as laboratory test results. In cases of aortitis syndrome combined with an aneurysm of a large artery and AR, direct opacification of the aorta with a catheter is occasionally hazardous and is difficult to perform repeatedly. DSA is useful in such circumstances because it can be performed repeatedly with little risk and it offers an image as clear as these obtained by direct injection of contrast medium in the aorta. (author)

  1. Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection.

    Science.gov (United States)

    Okamoto, Nobuhiko; Watanabe, Miki; Naruto, Takuya; Matsuda, Keiko; Kohmoto, Tomohiro; Saito, Masako; Masuda, Kiyoshi; Imoto, Issei

    2017-01-01

    Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B , thus diagnosing this patient with Cabezas syndrome.

  2. Diagnosing antiphospholipid syndrome: 'extra-criteria' manifestations and technical advances.

    Science.gov (United States)

    Sciascia, Savino; Amigo, Mary-Carmen; Roccatello, Dario; Khamashta, Munther

    2017-09-01

    First described in the early 1980s, antiphospholipid syndrome (APS) is a unique form of acquired autoimmune thrombophilia in which patients present with clinical features of recurrent thrombosis and pregnancy morbidity and persistently test positive for the presence of antiphospholipid antibodies (aPL). At least one clinical (vascular thrombosis or pregnancy morbidity) and one lab-based (positive test result for lupus anticoagulant, anticardiolipin antibodies and/or anti-β2-glycoprotein 1 antibodies) criterion have to be met for a patient to be classified as having APS. However, the clinical spectrum of APS encompasses additional manifestations that can affect many organs and cannot be explained exclusively by patients being in a prothrombotic state; clinical manifestations not listed in the classification criteria (known as extra-criteria manifestations) include neurologic manifestations (chorea, myelitis and migraine), haematologic manifestations (thrombocytopenia and haemolytic anaemia), livedo reticularis, nephropathy and valvular heart disease. Increasingly, research interest has focused on the development of novel assays that might be more specific for APS than the current aPL tests. This Review focuses on the current classification criteria for APS, presenting the role of extra-criteria manifestations and lab-based tests. Diagnostic approaches to difficult cases, including so-called seronegative APS, are also discussed.

  3. Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review

    NARCIS (Netherlands)

    Postema, Floor A. M.; Hopman, Saskia M. J.; Hennekam, Raoul C.; Merks, Johannes H. M.

    2018-01-01

    Up to 8.5% of children with cancer have a genetic cause for their cancer: a tumor predisposition syndrome (TPS). Diagnosing a TPS is of great importance, as it may have major consequences for clinical care. Patients with TPSs require specific monitoring and management. We present an overview of the

  4. Reliability of Diagnosing Clinical Hypothyroidism in Adults with Down Syndrome. Brief Report.

    Science.gov (United States)

    Prasher, V. P.

    1995-01-01

    The accuracy of diagnosing hypothyroidism in 160 adults with Down syndrome was examined. A significant association between a clinical diagnosis of hypothyroidism and increasing age was found but no significant association was found between a clinical and a biochemical diagnosis. Regular biochemical screening is recommended. (Author/SW)

  5. Social Perception and WAIS-IV Performance in Adolescents and Adults Diagnosed with Asperger's Syndrome and Autism

    Science.gov (United States)

    Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

    2011-01-01

    Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger's syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger's syndrome using the Wechsler Adult Intelligence Scale-Fourth…

  6. "Is It Her Hormones?": Psychiatric Diagnoses and Polycystic Ovarian Syndrome.

    Science.gov (United States)

    Genovese, Ann; Smith, Teri; Kramer, Holly; Augustyn, Marilyn

    2016-01-01

    Beth, whom you have cared for in your primary care practice since she was born, is a 15-year-old adolescent girl with no prior psychiatric history who developed significant symptoms of clinical depression, associated with self-injurious behavior (cutting on wrists, arms, and thighs). She denied any known precipitant for her depression.She is a ninth grade honors student in the gifted program at a local high school and is described as a talented musician, playing multiple musical instruments as well as soccer and basketball. She has good family support, was sociable, and had several close friends. She denied any history of trauma and denied ever using recreational drugs or other mood-altering substances.At this visit, she reported feeling "sad and anxious." Family history was significant for maternal depression, which persisted through her teens and twenties. Her older sister had been diagnosed with Social Anxiety Disorder. Beth reported anhedonia, fatigue and irritable mood, lack of motivation, impaired concentration, and anxiety related to failing grades.You decide to begin medication because of the severity of her symptoms, and 1 week after starting fluoxetine 10 mg, she reportedly overdosed on an unknown quantity of acetaminophen. Within a few days of switching to escitalopram (due to persistent gastrointestinal complaints while taking fluoxetine), she developed homicidal ideation. She reported feeling grandiose, empowered, invincible, elated, and "crazy," although she never demonstrated or endorsed psychotic symptoms. She became fixated upon the idea that she could kill someone and "get away with it." At the time she tried to suffocate a peer with her hands, she was described as having "a glazed over look in her eyes." Moods were now described as alternating between depressed and elated, with mood shifts occurring every few days. These symptoms did not improve after the antidepressant medication was discontinued.Subsequently, patient was admitted for acute

  7. Two diagnoses become one? Rare case report of anorexia nervosa and Cushing’s syndrome

    Directory of Open Access Journals (Sweden)

    Sawicka N

    2013-03-01

    Full Text Available Nadia Sawicka,* Maria Gryczyńska,* Jerzy Sowiński, Monika Tamborska-Zedlewska, Marek Ruchała Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland*These authors contributed equally to this workAbstract: Hypothalamic-pituitary-adrenal axis impairment in anorexia nervosa is marked by hypercortisolemia, and psychiatric disorders occur in the majority of patients with Cushing’s syndrome. Here we report a patient diagnosed with anorexia nervosa who also developed Cushing’s syndrome. A 26-year-old female had been treated for anorexia nervosa since she was 17 years old, and also developed depression and paranoid schizophrenia. She was admitted to the Department of Endocrinology, Metabolism, and Internal Medicine with a preliminary diagnosis of Cushing’s syndrome. Computed tomography revealed a 27 mm left adrenal tumor, and she underwent laparoscopic adrenalectomy. She was admitted to hospital 6 months after this procedure, at which time she did not report any eating or mood disorder. This is a rare case report of a patient with anorexia nervosa in whom Cushing’s syndrome was subsequently diagnosed. Diagnostic difficulties were caused by the signs and symptoms presenting in the course of both disorders, ie, hypercortisolemia, osteoporosis, secondary amenorrhea, striae, hypokalemia, muscle weakness, and depression.Keywords: anorexia nervosa, Cushing’s syndrome, adrenalectomy, osteoporosis

  8. Histiocytoid Sweet Syndrome Diagnosed with Concurrent Myelodysplastic Syndrome with t(1;3) on Bone Marrow Examination

    Science.gov (United States)

    2017-10-08

    Affairs (59 MDW/PA) for review and then forward you a final letter of approval or disapproval. g, Once your manuscript, poster or presentation has been...CHANGES: [gj NO 0 YES If yes. give date. 29. COMMENTS [gJ APPROVED D DISAPPROVED The poster presentation is approved. 30. PRINTED NAME. RANK/GRADE...FROM: 59 MDW/SGVU SUBJECT: Professional Presentation Approval 27 JULY 2017 1. Your paper, entitled Histiocytoid Sweet Syndrome Diagnosed with

  9. The prevalence of diagnosed tourette syndrome in Canada: A national population-based study.

    Science.gov (United States)

    Yang, Jaeun; Hirsch, Lauren; Martino, Davide; Jette, Nathalie; Roberts, Jodie; Pringsheim, Tamara

    2016-11-01

    The objective of this study was to examine: (1) the prevalence of diagnosed Tourette syndrome in Canada by sex in youth (aged 12-17) and adults and (2) socioeconomic factors in this population. The majority of epidemiological studies of tics have focused on children and youth, with few studies describing the prevalence of tics in adult populations. Canadian data on Tourette syndrome prevalence were derived from the Canadian Community Health Survey 2010 and 2011 cycles, a Statistics Canada population-based cross-sectional survey that collects information related to health status. We determined the prevalence of diagnosed Tourette syndrome and examined sociodemographic factors, including age, sex, education, income, employment, and birthplace. Overall, 122,884 Canadians participated in the surveys, with 122 participants diagnosed with Tourette syndrome. The prevalence of Tourette syndrome was higher in males in youth: 6.03 per 1000 (95% confidence interval: 3.24-8.81) in males versus 0.48 per 1,000 (95% confidence interval: 0.05-0.91) in females, with a prevalence risk ratio of 5.31 (95% confidence interval: 2.38-11.81). In adults, the prevalence of Tourette syndrome was 0.89 per 1,000 (95% confidence interval: 0.48-1.29) in males versus 0.44 (95% confidence interval: 0.16.0-0.71) in females, with a prevalence risk ratio of 1.93 (95% confidence interval: 1.21-3.08). After adjusting for age and sex, adults with Tourette syndrome had lower odds of receiving postsecondary education or being employed and higher odds of having income lower than the median and receiving governmental support. Data on the prevalence of Tourette syndrome in adults are scarce because most studies focus on children. Our data demonstrate a decreasing prevalence risk ratio for sex in adults compared to children. A diagnosis of Tourette syndrome is associated with lower education, income, and employment in adulthood. © 2016 International Parkinson and Movement Disorder Society. © 2016

  10. Two diagnoses become one? Rare case report of anorexia nervosa and Cushing?s syndrome

    OpenAIRE

    Sawicka, Nadia; Gryczy?ska, Maria; Sowi?ski, Jerzy; Tamborska-Zedlewska, Monika; Rucha?a, Marek

    2013-01-01

    Nadia Sawicka,* Maria Gryczyńska,* Jerzy Sowiński, Monika Tamborska-Zedlewska, Marek Ruchała Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland*These authors contributed equally to this workAbstract: Hypothalamic-pituitary-adrenal axis impairment in anorexia nervosa is marked by hypercortisolemia, and psychiatric disorders occur in the majority of patients with Cushing’s syndrome. Here we report a patient diagnosed...

  11. Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.

    Science.gov (United States)

    Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina; Rodriguez, Maria M

    2014-08-01

    Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.

  12. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

    Science.gov (United States)

    Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

    2012-01-01

    We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. Copyright © 2011 S. Karger AG, Basel.

  13. Natural history of Wolff-Parkinson-White syndrome diagnosed in childhood.

    Science.gov (United States)

    Cain, Nicole; Irving, Claire; Webber, Steven; Beerman, Lee; Arora, Gaurav

    2013-10-01

    Wolff-Parkinson-White (WPW) syndrome carries a risk for symptomatic arrhythmias and sudden death. The aim of this study was to examine the natural history of patients with Wolff-Parkinson-White syndrome diagnosed in childhood followed longitudinally at a single institution. The study population consisted of 446 patients. The median age of diagnosis was 7 years, and 61% were male. Associated heart disease was present in 40 patients (9%). Modes of presentation included supraventricular tachycardia (38%), palpitations (22%), chest pain (5%), syncope (4%), atrial fibrillation (0.4%), sudden death (0.2%), and incidental findings (26%); data were unavailable in 4%. During the study period, a total of 243 patients (54%) had supraventricular tachycardia, and 7 patients (1.6%) had atrial fibrillation. Of patients who presented at ≤3 months of age, 35% had resolution of manifest preexcitation compared with 5.8% who presented at >3 months of age (p Wolff-Parkinson-White syndrome diagnosed in childhood, 64% had symptoms at presentation, and an additional 20% developed symptoms during follow-up. There were 6 sudden deaths (1.3%), with an overall incidence of 1.1 per 1,000 patient-years in patients with structurally normal hearts and 27 per 1,000 patient-years in patients with associated heart disease. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Improving self-esteem in women diagnosed with Turner syndrome: results of a pilot intervention.

    Science.gov (United States)

    Chadwick, Paul M; Smyth, Arlene; Liao, Lih-Mei

    2014-06-01

    To evaluate a brief intervention to improve the self esteem of women diagnosed with Turner syndrome (TS). Prospective observational study. Turner Syndrome Support Society, UK. 30 women aged 18-60 years. A 1-day psychology workshop targeting problems of self-esteem in women diagnosed with TS. The workshop drew on cognitive-behavioral therapy and narrative therapy skills and emphasized increased self-awareness of interpersonal difficulties and improved capacity for self-management. Rosenberg Self-esteem Scale (RSS); Hospital Anxiety and Depression Scale (HADS); bespoke user experiences questionnaire. All 30 women provided baseline data, 27/30 provided immediate post-intervention data and 22/30 provided follow-up data at 3 months. The intervention improved RSS and HADS scores at 3 months. Generic skills-based psychological interventions have the potential to be adapted to provide brief and low-cost interventions to improve self-esteem and reduce psychological distress in women diagnosed with TS. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  15. A nationwide register study of the characteristics, incidence and validity of diagnosed Tourette syndrome and other tic disorders.

    Science.gov (United States)

    Leivonen, Susanna; Voutilainen, Arja; Hinkka-Yli-Salomäki, Susanna; Timonen-Soivio, Laura; Chudal, Roshan; Gissler, Mika; Huttunen, Jukka; Sourander, Andre

    2014-09-01

    The aim of this study was to describe the characteristics and incidence rates of diagnosed tic disorders in the Finnish Hospital Discharge Register, including changing incidence rates between 1991 and 2010. We also aimed to validate the diagnoses of Tourette's syndrome recorded in the register. Children born between January 1, 1991 and December 31, 2010, who were diagnosed with tic disorders, were identified from the Finnish Hospital Discharge Register (n = 3003). We studied the validity of the Tourette's syndrome diagnoses by reviewing the medical charts of 88 children born since 1997 and carrying out telephone interviews with 55 of their guardians. The incidence rates of all diagnosed tic disorders increased during the study period. A comorbid diagnosis of hyperkinetic disorder diagnosis was recorded in 28.2% of the children with Tourette's syndrome, and the validity of the register-based Tourette's syndrome diagnosis was approximately 95%. This is the first nationwide study to demonstrate the increasing incidence of all register-based tic disorder diagnoses. The validity of the Tourette's syndrome diagnoses in the Finnish Hospital Discharge Register was good, and the data provided are suitable for use in further register-based studies of tic disorders. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  16. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

    Science.gov (United States)

    Thaker, Vidhu V; Esteves, Kristyn M; Towne, Meghan C; Brownstein, Catherine A; James, Philip M; Crowley, Laura; Hirschhorn, Joel N; Elsea, Sarah H; Beggs, Alan H; Picker, Jonathan; Agrawal, Pankaj B

    2015-05-01

    The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight gain with an unknown genetic basis. To identify the underlying genetic etiology in a child with morbid early-onset obesity, hypoventilation, and autonomic and behavioral disturbances who was clinically diagnosed with ROHHAD syndrome. Design/Setting/Intervention: The index patient was evaluated at an academic medical center. Whole-exome sequencing was performed on the proband and his parents. Genetic variants were validated by Sanger sequencing. We identified a novel de novo nonsense mutation, c.3265 C>T (p.R1089X), in the retinoic acid-induced 1 (RAI1) gene in the proband. Mutations in the RAI1 gene are known to cause Smith-Magenis syndrome (SMS). On further evaluation, his clinical features were not typical of either SMS or ROHHAD syndrome. This study identifies a de novo RAI1 mutation in a child with morbid obesity and a clinical diagnosis of ROHHAD syndrome. Although extreme early-onset obesity, autonomic disturbances, and hypoventilation are present in ROHHAD, several of the clinical findings are consistent with SMS. This case highlights the challenges in the diagnosis of ROHHAD syndrome and its potential overlap with SMS. We also propose RAI1 as a candidate gene for children with morbid obesity.

  17. [Evaluating the relation of premenstrual syndrome and primary dysmenorrhea in women diagnosed with fibromyalgia].

    Science.gov (United States)

    Terzi, Rabia; Terzi, Hasan; Kale, Ahmet

    2015-01-01

    In this study, we aimed to investigate the presence of premenstrual syndrome (PMS), primary dysmenorrhea (PD) and depression among women with fibromyalgia (FM) and healthy females and to determine possible factors related with PMS and PD in FM. The present study was conducted on 98 female patients diagnosed with FM and 102 age and sex-matched healthy controls. All patients were evaluated for premenstrual syndrome (PMS) and primary dysmenorrhea (PD). Premenstrual syndrome was assessed among the patients for the presence of one or more affective or somatic symptoms within the five days preceding menses. The diagnosis of primary dysmenorrhea was defined as having abdominal pain or lower back pain lasting at least two days during a menstrual period. Dysmenorrhea was assessed via visual analog scale. Dysmenorrhea was rated via Multidimensional Scoring System. The Hamilton depression scale was applied to all patients. Primary dysmenorrhea was established in 41% of FM patients and 28% of the control group. A statistically significant difference was found in PD between the two groups (p=0.03). PMS was established in 42% of the FM patients and 25% of the control group. A statistically significant difference was found in PMS between the two groups (p=0.03). There is an increased frequency of premenstrual syndrome and dysmenorrhea in FM patients. The patients with high symptom severity scores and high depression scores among the FM patients are at risk of PMS and PD. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

  18. Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses

    Energy Technology Data Exchange (ETDEWEB)

    Biko, David M. [Pennsylvania Hospital, Department of Radiology, Philadelphia, PA (United States); Schwartz, Michael; Anupindi, Sudha A. [Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Altes, Talissa A. [Children' s Hospital of Philadelphia, Philadelphia, PA (United States); University of Virginia, Charlottesville, VA (United States)

    2008-03-15

    Although subpleural cysts are known to be associated with Down syndrome, their etiology and prevalence remains unknown. To determine the prevalence of subpleural cysts in children with Down syndrome and the association with prematurity, congenital heart disease (CHD), extracorporeal membrane oxygenation (ECMO), and chronic ventilator support. A review of the CT examinations of 25 children with Down syndrome was performed to determine the presence, location, and distribution of cysts along with associated abnormalities. Charts were reviewed and coexistent diagnoses and past treatments were recorded. The prevalence of subpleural cysts was 36% with no significant association with CHD, ECMO, or chronic ventilator support. An association was found in the two children with a history of prematurity. The cysts were most commonly found in the anteromedial portion of the lung. Subpleural cysts are common in Down syndrome and should not be confused with another pathological process. An association with prematurity was found, but the low number of children in this study makes the connection uncertain. The etiology remains unclear, but it has been hypothesized that the cysts are associated with lung hypoplasia. (orig.)

  19. Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses

    International Nuclear Information System (INIS)

    Biko, David M.; Schwartz, Michael; Anupindi, Sudha A.; Altes, Talissa A.

    2008-01-01

    Although subpleural cysts are known to be associated with Down syndrome, their etiology and prevalence remains unknown. To determine the prevalence of subpleural cysts in children with Down syndrome and the association with prematurity, congenital heart disease (CHD), extracorporeal membrane oxygenation (ECMO), and chronic ventilator support. A review of the CT examinations of 25 children with Down syndrome was performed to determine the presence, location, and distribution of cysts along with associated abnormalities. Charts were reviewed and coexistent diagnoses and past treatments were recorded. The prevalence of subpleural cysts was 36% with no significant association with CHD, ECMO, or chronic ventilator support. An association was found in the two children with a history of prematurity. The cysts were most commonly found in the anteromedial portion of the lung. Subpleural cysts are common in Down syndrome and should not be confused with another pathological process. An association with prematurity was found, but the low number of children in this study makes the connection uncertain. The etiology remains unclear, but it has been hypothesized that the cysts are associated with lung hypoplasia. (orig.)

  20. Is it possible to diagnose Rett syndrome before classical symptoms become obvious?

    DEFF Research Database (Denmark)

    Bisgaard, Anne-Marie; Schönewolf-Greulich, Bitten; Ravn, Kirstine

    2015-01-01

    BACKGROUND/PURPOSE: Rett syndrome (RTT) is a neurodevelopmental disorder that affects mainly females; it results in multiple disabilities and carries a risk of medical comorbidities. Early diagnosis is important to help establish the best treatment opportunities and preventive care in order to slow...... down the progression of symptoms. We wanted to test our hypothesis that it is possible to diagnose RTT before the classical symptoms become obvious. METHODS: We analysed development and symptoms before and at the time of the RTT diagnosis, as well as the symptoms that triggered MECP2 mutation analysis...

  1. The value of double balloon enteroscopy in diagnosing blue rubber bleb naevus syndrome: a case report.

    LENUS (Irish Health Repository)

    O'Kelly, Fardod

    2010-01-01

    Blue rubber bleb naevus syndrome is a rare vascular disorder associated with multiple gastrointestinal haemangiomas that have the potential for life-threatening haemorrhage. These may be difficult to diagnose, and have classically been described using computed tomographic studies and\\/or mesenteric angiography. Resected surgical specimens of these lesions, especially in the small bowel, have often been extensive and poorly localized. The recent advent and progressive development of double balloon enteroscopy has allowed the direct visualization and marking of these enteric lesions and serves as a valuable adjunct not only in diagnosis but also planning prior to surgery to allow accurate estimate of the extent of resection.

  2. Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses.

    Science.gov (United States)

    Darrow, Sabrina M; Illmann, Cornelia; Gauvin, Caitlin; Osiecki, Lisa; Egan, Crystelle A; Greenberg, Erica; Eckfield, Monika; Hirschtritt, Matthew E; Pauls, David L; Batterson, James R; Berlin, Cheston M; Malaty, Irene A; Woods, Douglas W; Scharf, Jeremiah M; Mathews, Carol A

    2015-08-30

    Collecting phenotypic data necessary for genetic analyses of neuropsychiatric disorders is time consuming and costly. Development of web-based phenotype assessments would greatly improve the efficiency and cost-effectiveness of genetic research. However, evaluating the reliability of this approach compared to standard, in-depth clinical interviews is essential. The current study replicates and extends a preliminary report on the utility of a web-based screen for Tourette Syndrome (TS) and common comorbid diagnoses (obsessive compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD)). A subset of individuals who completed a web-based phenotyping assessment for a TS genetic study was invited to participate in semi-structured diagnostic clinical interviews. The data from these interviews were used to determine participants' diagnostic status for TS, OCD, and ADHD using best estimate procedures, which then served as the gold standard to compare diagnoses assigned using web-based screen data. The results show high rates of agreement for TS. Kappas for OCD and ADHD diagnoses were also high and together demonstrate the utility of this self-report data in comparison previous diagnoses from clinicians and dimensional assessment methods. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Axis I psychiatric diagnoses in adolescents and young adults with 22q11 deletion syndrome

    Science.gov (United States)

    Ousley, O.Y.; Smearman, E.; Fernandez-Carriba, S.; Rockers, K.A.; Coleman, K.; Walker, E.F.; Cubells, J.F.

    2017-01-01

    Background 22q11.2 deletion syndrome (22q11DS) associates with schizophrenia spectrum disorders (SSDs), autism spectrum disorders (ASDs), and other psychiatric disorders, but co-occurrence of diagnoses are not well described. Methods We evaluated the co-occurrence of SSDs, ASDs and other axis I psychiatric diagnoses in 31 adolescents and adults with 22q11DS, assessing ASDs using either stringent Collaborative Program for Excellence in Autism (ASD-CPEA) criteria, or less stringent DSM-IV criteria alone (ASD-DSM-IV). Results Ten (32%) individuals met criteria for an SSD, five (16%) for ASD-CPEA, and five others (16%) for ASD-DSM-IV. Of those with ASD-CPEA, one (20%) met SSD criteria. Of those with ASD-DSM-IV, four (80%) met SSD criteria. Depressive disorders (8 individuals; 26%) and anxiety disorders (7; 23%) sometimes co-occurred with SSDs and ASDs. SSDs, ASDs, and anxiety occurred predominantly among males and depression predominantly among females. Conclusions Individuals with 22q11DS can manifest SSDs in the presence or absence of ASDs and other axis I diagnoses. The results suggest that standard clinical care should include childhood screening for ASDs, and later periodic screening for all axis I diagnoses. PMID:23916466

  4. A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing

    Directory of Open Access Journals (Sweden)

    Yurie Fukiyama

    2018-02-01

    Full Text Available Purpose: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS via genetic testing. Case Report: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause. The results indicated that he had various brain congenital abnormalities, such as a thin corpus callosum, as well as hydronephrosis, an atrial septal defect, and skin similar to patients with fundus oculi albinoticus. Examination revealed bilateral fundus oculi albinoticus, mild iridic hypopigmentation, optic atrophy, and poor visual tracking. Genetic testing revealed a deletion in the Prader-Willi syndrome/AS region on chromosome 15, and together with the results of methylation analysis, his condition was diagnosed as AS. Follow-up examinations revealed no change in the fundus oculi albinoticus and optic atrophy, nor did they indicate poor visual tracking. Conclusions: When fundus oculi albinoticus and optic atrophy are observed in patients with multiple malformations, AS should be considered as a differential diagnosis.

  5. Clinical and Demographic Features of Pseudotumor Cerebri Syndrome Diagnosed in a University Hospital

    Directory of Open Access Journals (Sweden)

    Demet Arslan

    2017-06-01

    Full Text Available Objective: Pseudotumor cerebri syndrome (PTCS is characterized by symptoms and signs of increased intracranial pressure without ventriculomegaly, intracranial tumor or mass. This study aimed to explore and analyze 34 patients with PTCS according to age, sex, symptoms of the disorder, cranial magnetic resonance images findings, etiology, and treatment. Materials and Methods: A total of 34 patients who were diagnosed as having PTCS and followed up between January 2011 and August 2016 by Dicle University Medical School Neurology Department were included in this study. PTCS was diagnosed in accordance with the modified Dandy criteria. Results: Thirty-four patients were identified as having PTCS. Twenty-one (91.2% had headache, 19 (55.9% had blurred vision, 6 (17.6% had diplopia, 2 (5.9% had vertigo, 1 (2.9% had tinnitus, and 1 (2.9% had numbness of the face. Twenty-seven patients were diagnosed as having idiopathic intracranial hypertension, 21 (61.8% had no etiologic factors. Six (17.6% patients were obese, one of whom had recently gained weight and another had polycystic ovary syndrome. Seven patients were thought to have secondary PTCS with the following etiologic factors: 2 (5.9% patients had Hashimoto’s thyroiditis, 1 (2.9% had a history of all-trans retinoic acid intake due to a malignancy, 1 (2.9% had choroid plexus granuloma, 2 (5.9% had sinus venous thrombosis, and 1 (2.9% had Familial Meditteranian Fever. Conclusion: Although PTCS was described many years ago, its physiopathology and exact treatment procedures are not clearly understood. The most important target of its treatment is to prevent loss of vision and improve symptoms. With a better understanding of its pathophysiology, effective treatment protocols will be developed

  6. Medial tibial stress syndrome can be diagnosed reliably using history and physical examination.

    Science.gov (United States)

    Winters, M; Bakker, E W P; Moen, M H; Barten, C C; Teeuwen, R; Weir, A

    2017-02-08

    The majority of sporting injuries are clinically diagnosed using history and physical examination as the cornerstone. There are no studies supporting the reliability of making a clinical diagnosis of medial tibial stress syndrome (MTSS). Our aim was to assess if MTSS can be diagnosed reliably, using history and physical examination. We also investigated if clinicians were able to reliably identify concurrent lower leg injuries. A clinical reliability study was performed at multiple sports medicine sites in The Netherlands. Athletes with non-traumatic lower leg pain were assessed for having MTSS by two clinicians, who were blinded to each others' diagnoses. We calculated the prevalence, percentage of agreement, observed percentage of positive agreement (Ppos), observed percentage of negative agreement (Pneg) and Kappa-statistic with 95%CI. Forty-nine athletes participated in this study, of whom 46 completed both assessments. The prevalence of MTSS was 74%. The percentage of agreement was 96%, with Ppos and Pneg of 97% and 92%, respectively. The inter-rater reliability was almost perfect; k=0.89 (95% CI 0.74 to 1.00), phistory and physical examination, in clinical practice and research settings. We also found that concurrent lower leg injuries are common in athletes with MTSS. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  7. Premenstrual Syndrome: Symptomatic and Diagnosed Prevalence, Dualistic Treatment Approach - A Cross-Sectional Study in Ukraine.

    Science.gov (United States)

    Crow, Edith Meszaros; Jeannot, Emilien

    2017-01-01

    Diagnosing and treatment of premenstrual syndrome (PMS) still pose a challenge in the routine medical practice which usually focuses on single pharmacological therapy. Recent research suggests that the combination of treatments including complementary alternative medicine (CAM) therapies may be more beneficial. The objective of this study was to assess the percentage of diagnosed and nondiagnosed PMS/premenstrual dysphoric disorder (PMDD) based on the presence of adequate symptoms and to compare population using hormonal or pharmaceutical agents versus CAM therapies. This is a cross-sectional study targeting sample population of 160 females of potentially reproductive age done in Ukraine between May 2014 and April 2015. According to declared symptoms, 29% females versus 26% previously diagnosed by a medical professional qualify for "moderate/severe PMS," P > 0.05. In 30% persons using pharmacological agents, major side effects, namely, nausea, insomnia, headache was caused by painkillers, contraceptives, and antidepressants. Only 37.5% of study population has been using CAM therapy methods to deal with the symptoms of PMS. Of these, 22% have achieved moderate degree in relief of the symptoms long term. We have concluded that when dealing with the burden of PMS/PMDD, the affected treatment-seeking women should have choice and access to the variety of therapies within integrative medicine (both conventional and nonconventional).

  8. A 27-year-old woman diagnosed as polycystic ovary syndrome associated with Graves' disease.

    Science.gov (United States)

    Jung, Jung Hwa; Hahm, Jong Ryeal; Jung, Tae Sik; Kim, Hee Jin; Kim, Ho Soo; Kim, Sungsu; Kim, Soo Kyoung; Lee, Sang Min; Kim, Deok Ryong; Choi, Won Jun; Seo, Yeong Mi; Chung, Soon Il

    2011-01-01

    Polycystic ovary syndrome (PCOS) and Graves' disease are the common causes of menstrual irregularity leading to infertility in women of child-bearing age. A 21-year-old female patient visited us with complaints of oligomenorrhea and hand tremor. She was diagnosed as having PCOS and hyperthyroid Graves' disease, simultaneously. She had low body weight (BMI: 16.4 kg/m(2)), mild hirsutism, and thyrotoxicosis. The patient was treated with anti-thyroid drug and beta-blocker for about two years, and then recovered to normal thyroid function. Although some studies have suggested a connection between PCOS and autoimmune thyroiditis, no study indicated that PCOS is associated with Graves' disease until now. Here, we describe the first case report of a lean woman with normal insulin sensitivity presenting PCOS and Graves' disease simultaneously.

  9. National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark

    DEFF Research Database (Denmark)

    Lou, Stina; Petersen, Olav B.; Jørgensen, Finn Stener

    2018-01-01

    INTRODUCTION: Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (> 90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences...... of implementing a comprehensive, national prenatal screening guideline. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark MATERIAL AND METHODS: Data on invasive...... procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry RESULTS: From 1973-1993 screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures. After the introduction of the triple test in 1994...

  10. Lyme Disease Diagnosed by Alternative Methods: A Phenotype Similar to That of Chronic Fatigue Syndrome.

    Science.gov (United States)

    Patrick, David M; Miller, Ruth R; Gardy, Jennifer L; Parker, Shoshana M; Morshed, Muhammad G; Steiner, Theodore S; Singer, Joel; Shojania, Kam; Tang, Patrick

    2015-10-01

    A subset of patients reporting a diagnosis of Lyme disease can be described as having alternatively diagnosed chronic Lyme syndrome (ADCLS), in which diagnosis is based on laboratory results from a nonreference Lyme specialty laboratory using in-house criteria. Patients with ADCLS report symptoms similar to those reported by patients with chronic fatigue syndrome (CFS). We performed a case-control study comparing patients with ADCLS and CFS to each other and to both healthy controls and controls with systemic lupus erythematosus (SLE). Subjects completed a history, physical exam, screening laboratory tests, 7 functional scales, reference serology for Lyme disease using Centers for Disease Control and Prevention criteria, reference serology for other tick-associated pathogens, and cytokine expression studies. The study enrolled 13 patients with ADCLS (12 of whom were diagnosed by 1 alternative US laboratory), 25 patients with CFS, 25 matched healthy controls, and 11 SLE controls. Baseline clinical data and functional scales indicate significant disability among ADCLS and CFS patients and many important differences between these groups and controls, but no significant differences between each other. No ADCLS patient was confirmed as having positive Lyme serology by reference laboratory testing, and there was no difference in distribution of positive serology for other tick-transmitted pathogens or cytokine expression across the groups. In British Columbia, a setting with low Lyme disease incidence, ADCLS patients have a similar phenotype to that of CFS patients. Disagreement between alternative and reference laboratory Lyme testing results in this setting is most likely explained by false-positive results from the alternative laboratory. © The Author 2015. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  11. Anterior Cutaneous Nerve Entrapment Syndrome in a Pediatric Patient Previously Diagnosed With Functional Abdominal Pain: A Case Report.

    Science.gov (United States)

    DiGiusto, Matthew; Suleman, M-Irfan

    2018-03-23

    Chronic abdominal pain is common in children and adolescents but challenging to diagnose, because practitioners may be concerned about missing serious occult disease. Abdominal wall pain is an often ignored etiology for chronic abdominal pain. Anterior cutaneous nerve entrapment syndrome causes abdominal wall pain but is frequently overlooked. Correctly diagnosing patients with anterior cutaneous nerve entrapment syndrome is important because nerve block interventions are highly successful in the remittance of pain. Here, we present the case of a pediatric patient who received a diagnosis of functional abdominal pain but experienced pain remittance after receiving a trigger-point injection and transverse abdominis plane block.

  12. An under-diagnosed geriatric syndrome: sleep disorders among older adults.

    Science.gov (United States)

    Tufan, Asli; Ilhan, Birkan; Bahat, Gulistan; Karan, Mehmet Akif

    2017-06-01

    Sleep disorders are commonly under-diagnosed in the geriatric population. We aimed to determine the prevalence of sleep problems among older adults admitted to the geriatrics out-patient clinic. Two hundred and three patients (136 female) older than 75 years of age were included in the study. Patients underwent comprehensive geriatric assessment, including identification of sleep problems using the Sleep Disturbance Scale, Rapid eye movement (REM) sleep behavior disorder (RBD) Single-Question Screen questionnaire (RBD1Q) and The Johns Hopkins Restless Leg Syndrome Severity Scale. Demographic and clinical data including age, sex, medications, comorbid diseases, body mass index and functional scores was noted. The mean age of the patients was 80.92±4.3 years. 35.5% of the patients had findings of REM-SBD and 32.5% of the patients had restless legs syndrome. Ninety-seven percent of the patients answered 'yes' to at least one of the sleep disturbance scale questions. There was no significant difference between male and female groups. We observed that sleep disorders were common among older adults. For this reason, the course and quality of sleep should be examined in all patients as a routine part of comprehensive geriatric assessment.

  13. Xerophthalmia of Sjogren's Syndrome Diagnosed with Anti-Salivary Gland Protein 1 Antibodies

    Directory of Open Access Journals (Sweden)

    Sahana Vishwanath

    2014-06-01

    Full Text Available Purpose: The purpose of this report is to describe 2 patients with persistent severe dry eyes, positive Schirmer tests for Sjogren's syndrome (SS but lacking antibodies to either Ro or La. These patients were diagnosed to have SS by detecting antibodies to salivary gland protein 1 (Sp1 and parotid secretory protein (PSP. This report emphasizes the existence of patients with SS who lack antibodies to either Ro or La and may therefore be misdiagnosed. Detection of novel autoantibodies, including antibodies to Sp1 and PSP, are helpful in identifying these patients. Initial presentation may simply be dry eyes. Methods: Two patients who presented to our ophthalmology clinic are described. One of the patients underwent multiple procedures over a period of 10 years for severe xerophthalmia. The other patient had rheumatoid arthritis and xerophthalmia. However, in both patients, chronic xerophthalmia had been considered to be idiopathic because antibodies Ro and La were negative. Further serologic testing revealed antibodies to Sp1 and PSP. Results: Two patients who lacked antibodies to Ro and La but not to Sp1 and PSP were diagnosed as having SS. Conclusion: Patients presenting with unexplained dry eyes may not always show the serology markers in the current criteria for SS, anti-Ro and anti-La. In these cases, investigation for novel, early antibodies to Sp1 and PSP is of importance in the diagnosis of SS.

  14. Allocating provider resources to diagnose and treat restless legs syndrome: a cost-utility analysis.

    Science.gov (United States)

    Padula, William V; Phelps, Charles E; Moran, Dane; Earley, Christopher

    2017-10-01

    Restless legs syndrome (RLS) is a neurological disorder that is frequently misdiagnosed, resulting in delays in proper treatment. The objective of this study was to analyze the cost-utility of training primary care providers (PCP) in early and accurate diagnosis of RLS. We used a Markov model to compare two strategies: one where PCPs received training to diagnose RLS (informed care) and one where PCPs did not receive training (standard care). This analysis was conducted from the US societal and health sector perspectives over one-year, five-year, and lifetime (50-year) horizons. Costs were adjusted to 2016 USD, utilities measured as quality-adjusted life-years (QALYs), and both measures were discounted annually at 3%. Cost, utilities, and probabilities for the model were obtained through a comprehensive review of literature. An incremental cost-effectiveness ratio (ICER) was calculated to interpret our findings at a willingness-to-pay threshold of $100,000/QALY. Univariate and multivariate analyses were conducted to test model uncertainty, in addition to calculating the expected value of perfect information. Providing training to PCPs to correctly diagnose RLS was cost-effective since it cost $2021 more and gained 0.44 QALYs per patient over the course of a lifetime, resulting in an ICER of $4593/QALY. The model was sensitive to the utility for treated and untreated RLS. The probabilistic sensitivity analysis revealed that at $100,000/QALY, informed care had a 65.5% probability of being cost-effective. A program to train PCPs to better diagnose RLS appears to be a cost-effective strategy for improving outcomes for RLS patients. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Prevalence and characteristics of the metabolic syndrome among newly diagnosed hypertensive patients

    Science.gov (United States)

    Osuji, Charles U.; Omejua, Emeka G.

    2012-01-01

    Background: Cardiovascular disease risk factors have a tendency to cluster. The presence of such a cluster in an individual has been designated the metabolic syndrome (MetS). There is a paucity of reports of the prevalence of MetS in hypertensive patients in south east Nigeria. This study was undertaken to determine the prevalence of the metabolic syndrome (MetS) among newly diagnosed hypertensive patients using the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) criteria in a tertiary healthcare centre in South East Nigeria. Materials and Methods: A population of 250 consecutive newly diagnosed adult hypertensive patients (126 males and 124 females) was evaluated. Blood pressure and anthropometric measurements were done using standardized techniques. After an overnight fast, blood samples were taken for glucose and lipid profile assays. The NCEP ATP III criteria were then applied for the diagnosis of MetS. Results: The prevalence of the MetS among the study population was 31.2%. The sex-specific prevalences were 15.1% and 47.6% among male and female patients respectively. A large number of the patients (40.4%) were at a high potential risk of developing the MetS as they already met 2 of the criteria. The MetS prevalence increased progressively from 14.3% through 23.8%, in the patients aged 24-33years and 34-43 years, respectively to a peak (40.4%) among those aged 44-53 years before declining in those aged 54-63 years (31.8%), 64-73 years (33.3%) and 74 years and above (20.6%). Central obesity was the most common component of the MetS being present in 50.4% of patients (28.6% of males and 72.6% of females). Of the other components, low HDL-C was present in 38.8% (26.2% of males and 51.6% of females), elevated FBS in 12.8% (6.3% of males and 19.4% of females) and elevated triglycerides in 8.8% (11.9% of males and 5.6% of females). Conclusion: The prevalence of the MetS is high among newly diagnosed hypertensive patients in Nnewi

  16. A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

    Science.gov (United States)

    Nanba, Kazutaka; Usui, Takeshi; Nakamura, Michikazu; Toyota, Yuko; Hirota, Keisho; Tamanaha, Tamiko; Kawashima, Sachiko-Tsukamoto; Nakao, Kanako; Yuno, Akiko; Tagami, Tetsuya; Naruse, Mitsuhide; Shimatsu, Akira

    2013-01-01

    Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification. A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed. Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome. We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.

  17. Diagnostic utility of F waves in clinically diagnosed patients of carpal tunnel syndrome.

    Science.gov (United States)

    Joshi, Anand G; Gargate, Ashwini R

    2013-01-01

    Sensory nerve conduction velocity (SNCV) of median nerve measured across the carpal tunnel, difference between distal sensory latencies (DSLs) of median and ulnar nerves and difference between distal motor latencies (DMLs) of median and ulnar nerves are commonly used nerve conduction parameters for diagnosis of carpal tunnel syndrome (CTS). These are having high degree of sensitivity and specificity. Study of median nerve F-wave minimal latency (FWML) and difference between F-wave minimal latencies (FWMLs) of median and ulnar nerves have also been reported to be useful parameters for diagnosis of CTS. However, there is controversy regarding superiority of F-wave study for diagnosis of CTS. So the aim of present study was to compare sensitivity and specificity of median FWML and difference between FWMLs of median and ulnar nerves with that of above mentioned electrophysiological parameters and to find out which parameters are having more sensitivity and specificity, for early diagnosis of CTS. Median and ulnar nerves sensory and motor conduction, median and ulnar nerves F-wave studies were carried out bilaterally in 125 clinically diagnosed patients of carpal tunnel syndrome. These parameters were also studied in 45 age matched controls. Difference between DSLs of median and ulnar nerves, median SNCV and difference between DMLs of median and ulnar nerves were having highest sensitivity and specificity while median FWML and difference between FWMLs of median and ulnar nerves was having lowest sensitivity and specificity for diagnosis of CTS. So in conclusion F-wave study is not superior parameter for diagnosis of CTS.

  18. Factors associated with severe dry eye in primary Sjögren's syndrome diagnosed patients.

    Science.gov (United States)

    Fernandez Castro, Mónica; Sánchez-Piedra, Carlos; Andreu, Jose Luis; Martínez Taboada, Víctor; Olivé, Alejandro; Rosas, Jose

    2018-06-01

    Primary Sjögren's syndrome (pSS) is an autoimmune disease, characterized by lymphocytic infiltration of exocrine glands and other organs, resulting in dry eye, dry mouth and extraglandular systemic findings. To explore the association of severe or very severe dry eye with extraocular involvement in patients diagnosed with primary Sjögren's syndrome. SJOGRENSER registry is a multicenter cross-sectional study of pSS patients. For the construction of our main variable, severe/very severe dry eye, we used those variables that represented a degree 3-4 of severity according to the 2007 Dry Eye Workshop classification. First, bivariate logistic regression models were used to identify the effect of each independent variable on severe/very severe dry eye. Secondly, multivariate analysis using regression model was used to establish the independent effect of patient characteristics. Four hundred and thirty-seven patients were included in SJOGRENSER registry; 94% of the patients complained of dry eye and 16% developed corneal ulcer. Schirmer's test was pathological in 92% of the patients; 378 patients presented severe/very severe dry eye. Inflammatory articular involvement was significantly more frequent in patients with severe/very severe dry eye than in those without severe/very severe dry eye (82.5 vs 69.5%, p = 0,028). Inflammatory joint involvement was associated with severe/very severe dry eye in the multivariate analysis, OR 2.079 (95% CI 1.096-3.941). Severe or very severe dry eye is associated with the presence of inflammatory joint involvement in patients with pSS. These results suggest that a directed anamnesis including systemic comorbidities, such as the presence of inflammatory joint involvement or dry mouth in patients with dry eye, would be useful to suspect a pSS.

  19. Psychosocial outcomes of Hong Kong Chinese diagnosed with acute coronary syndromes: a prospective repeated measures study.

    Science.gov (United States)

    Chan, Dominic S K; Chau, Janita P C; Chang, Anne M

    2007-08-01

    Western studies have suggested that emotional stress and distress impacted on the morbidity and mortality in people following acute coronary events. Symptoms of anxiety and depression have been associated with re-infarction and death, prolonged recovery and disability and depression may precipitate the client's low self-esteem. This study examined perceived anxiety, depression and self-esteem of Hong Kong Chinese clients diagnosed with acute coronary syndrome (ACS) over a 6-month period following hospital admission. To examine: A prospective, repeated measures design with measures taken on two occasions over a 6-month period; (1) within the 1st week of hospital admission following the onset of ACS and (2) at 6 months follow up. Convenient sample of 182 voluntary consented clients admitted with ACS to a major public hospital in Hong Kong who could communicate in Chinese, complete questionnaires, cognitive intact, and were haemodynamically stable and free from acute chest pain at the time of interview. Baseline data were obtained within 1 week after hospital admission. The follow-up data was collected 6 months after hospital discharge. The Chinese version of the Hospital Anxiety and Depression Scale (HADS), State Self-esteem Scale (SSES), and Rosenberg's Self-Esteem Scale (RSES) were used to assess anxiety and depression, state self-esteem, and trait self-esteem, respectively. Findings suggested gender differences in clients' perception in anxiety, depression and self-esteem. Improvements in clients' perception of these variables were evident over the 6-month period following their acute coronary events. The study confirmed the western notion that psychosocial problems are common among coronary clients and this also applies to Hong Kong Chinese diagnosed with ACS. Further studies to explore effective interventions to address these psychosocial issues are recommended.

  20. Ciliates learn to diagnose and correct classical error syndromes in mating strategies.

    Science.gov (United States)

    Clark, Kevin B

    2013-01-01

    Preconjugal ciliates learn classical repetition error-correction codes to safeguard mating messages and replies from corruption by "rivals" and local ambient noise. Because individual cells behave as memory channels with Szilárd engine attributes, these coding schemes also might be used to limit, diagnose, and correct mating-signal errors due to noisy intracellular information processing. The present study, therefore, assessed whether heterotrich ciliates effect fault-tolerant signal planning and execution by modifying engine performance, and consequently entropy content of codes, during mock cell-cell communication. Socially meaningful serial vibrations emitted from an ambiguous artificial source initiated ciliate behavioral signaling performances known to advertise mating fitness with varying courtship strategies. Microbes, employing calcium-dependent Hebbian-like decision making, learned to diagnose then correct error syndromes by recursively matching Boltzmann entropies between signal planning and execution stages via "power" or "refrigeration" cycles. All eight serial contraction and reversal strategies incurred errors in entropy magnitude by the execution stage of processing. Absolute errors, however, subtended expected threshold values for single bit-flip errors in three-bit replies, indicating coding schemes protected information content throughout signal production. Ciliate preparedness for vibrations selectively and significantly affected the magnitude and valence of Szilárd engine performance during modal and non-modal strategy corrective cycles. But entropy fidelity for all replies mainly improved across learning trials as refinements in engine efficiency. Fidelity neared maximum levels for only modal signals coded in resilient three-bit repetition error-correction sequences. Together, these findings demonstrate microbes can elevate survival/reproductive success by learning to implement classical fault-tolerant information processing in social

  1. Ciliates learn to diagnose and correct classical error syndromes in mating strategies

    Directory of Open Access Journals (Sweden)

    Kevin Bradley Clark

    2013-08-01

    Full Text Available Preconjugal ciliates learn classical repetition error-correction codes to safeguard mating messages and replies from corruption by rivals and local ambient noise. Because individual cells behave as memory channels with Szilárd engine attributes, these coding schemes also might be used to limit, diagnose, and correct mating-signal errors due to noisy intracellular information processing. The present study, therefore, assessed whether heterotrich ciliates effect fault-tolerant signal planning and execution by modifying engine performance, and consequently entropy content of codes, during mock cell-cell communication. Socially meaningful serial vibrations emitted from an ambiguous artificial source initiated ciliate behavioral signaling performances known to advertise mating fitness with varying courtship strategies. Microbes, employing calcium-dependent Hebbian-like decision making, learned to diagnose then correct error syndromes by recursively matching Boltzmann entropies between signal planning and execution stages via power or refrigeration cycles. All eight serial contraction and reversal strategies incurred errors in entropy magnitude by the execution stage of processing. Absolute errors, however, subtended expected threshold values for single bit-flip errors in three-bit replies, indicating coding schemes protected information content throughout signal production. Ciliate preparedness for vibrations selectively and significantly affected the magnitude and valence of Szilárd engine performance during modal and nonmodal strategy corrective cycles. But entropy fidelity for all replies mainly improved across learning trials as refinements in engine efficiency. Fidelity neared maximum levels for only modal signals coded in resilient three-bit repetition error-correction sequences. Together, these findings demonstrate microbes can elevate survival/reproductive success by learning to implement classical fault-tolerant information processing in

  2. Psychological resilience and depressive symptoms in older adults diagnosed with post-polio syndrome.

    Science.gov (United States)

    Pierini, Diana; Stuifbergen, Alexa K

    2010-01-01

    Depression is a serious comorbidity in people with disabilities; however, few studies have focused on depressive symptoms in older adults with post-polio syndrome (PPS). This study used a resilience conceptual framework that focused on patient psychosocial strengths to investigate the relationship between psychological resilience factors (e.g., acceptance, self-efficacy, personal resources, interpersonal relationships, self-rated health, spiritual growth, stress management) and depressive symptoms in a large sample (N = 630) of people older than 65 years who were diagnosed with PPS. Forty percent of the sample scored > or = 10 on the Center for Epidemiologic Studies Short Depression Scale (CES-D10), which is a higher percentage than what has been previously cited in other studies; however, 53% of the sample had good or excellent self-rated health, suggesting psychological resilience. Depression scores were regressed on seven selected resilience factors after controlling for functional limitations. Four of the seven variables accounted for 30% of the variance in depressive symptoms, with spiritual growth representing the main predictor (beta = -.26). The implications for rehabilitation nurses in developing a patient-strengths perspective in the assessment and counseling of older adults with PPS are discussed.

  3. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

    Science.gov (United States)

    Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco

    2018-01-01

    The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis. Copyright © 2017. Published by Elsevier Masson SAS.

  4. Recognition of Lynch Syndrome Amongst Newly Diagnosed Colorectal Cancers at St. Paul’s Hospital

    Directory of Open Access Journals (Sweden)

    Steven Pi

    2017-01-01

    Full Text Available Background. Lynch Syndrome (LS is the most common cause of inherited colorectal cancer (CRC. In British Columbia, most centres still use clinical criteria (Amsterdam II, Revised Bethesda, or the BC Cancer Agency’s criteria to determine who should undergo further first-line testing in the form of microsatellite instability or immunohistochemistry staining. Given the limitations with this strategy, LS is thought to be underrecognized. Objective. To investigate whether LS is truly underrecognized when compared to the reported prevalence. Methods. A retrospective chart review of all CRC cases diagnosed at St. Paul’s Hospital from 2010 to 2013 was conducted. Results. 246 patients met inclusion criteria. 76% (83/109 with a family history of malignancy were unable to recall the specific malignancy or age of diagnosis. 18% (43/235 were only asked about a history of gastrointestinal related malignancy and 26% (65/246 met at least one of the three criteria but only 21% (13/63 received further investigation. Only 1.6% (4/246 had LS compared to the reported prevalence of 2–5% of all CRC cases. Conclusion. This data supports our hypothesis that LS is underrecognized. Issues at the patient, physician, and systems level need to be evaluated to determine where the limitations preventing appropriate testing are occurring.

  5. Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.

    Directory of Open Access Journals (Sweden)

    Cecilia Egoavil

    Full Text Available Lynch syndrome (LS is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC patients with LS has the potential to influence life-saving interventions. We aimed to study the prevalence of LS among EC patients in our population.Universal screening for LS was applied for a consecutive series EC. Tumor testing using microsatellite instability (MSI, immunohistochemistry (IHC for mismatch-repair (MMR protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases. Sequencing of corresponding MMR genes was performed.One hundred and seventy-three EC (average age, 63 years were screened. Sixty-one patients (35% had abnormal IHC or MSI results. After MLH1 methylation analysis, 27 cases were considered suspicious of LS. From these, 22 were contacted and referred for genetic counseling. Nineteen pursued genetic testing and eight were diagnosed of LS. Mutations were more frequent in younger patients (<50 yrs. Three cases had either intact IHC or MSS and reinforce the need of implement the EC screening with both techniques.The prevalence of LS among EC patients was 4.6% (8/173; with a predictive frequency of 6.6% in the Spanish population. Universal screening of EC for LS is recommended.

  6. One elevated bladder pressure measurement may not be enough to diagnose abdominal compartment syndrome.

    Science.gov (United States)

    Young, Andrew Joseph; Weber, William; Wolfe, Luke; Ivatury, Rao R; Duane, Therese Marie

    2013-02-01

    Bladder pressure measurements (BPMs) are considered a key component in the diagnosis of abdominal compartment syndrome (ACS). The purpose of this observational review was to determine risk factors of ACS and associated mortality with particular focus on the role of BPM. A retrospective trauma registry and chart review was performed on trauma patients from January 2003 through December 2010. Comparisons were made between patients with and without ACS. There were 3172 patients included in the study of whom 46 had ACS. Patients with ACS were younger, more severely injured, with longer lengths of stay. Logistic regression determined Injury Severity Score (ISS) and urinary catheter days as independent predictors of ACS, whereas independent predictors of mortality included age, ISS, and ACS. Subset analysis demonstrated no association between BPM 20 mmHg or greater and diagnosis of ACS versus no ACS. Logistic regression indicated independent predictors of mortality were number of BPM 20 mmHg or greater and age. Patients with ACS are more severely injured with worse outcomes. An isolated BPM 20 mmHg or greater was not associated with ACS and may be inadequate to independently diagnose ACS. These findings suggest the need for repeat measurements with early intervention if they remain elevated in an effort to decrease mortality associated with ACS.

  7. Síndrome SAPHO: entidade rara ou subdiagnosticada? SAPHO syndrome: rare or under-diagnosed?

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    Jozephina Gonçalves Guerra

    2005-08-01

    Full Text Available OBJETIVO: Descrever os achados clínicos, radiológicos e patológicos da síndrome SAPHO e sugerir que, apesar de ser considerada rara, esta síndrome deve estar sendo subdiagnosticada por clínicos e radiologistas, provavelmente em função do desconhecimento das suas características. MATERIAIS E MÉTODOS: Foi realizado estudo retrospectivo de seis casos confirmados desta síndrome, dando-se ênfase aos achados clínicos (idade, sexo e sintomas e de imagem (cintilografia óssea, radiografia convencional, tomografia computadorizada e ressonância magnética. RESULTADOS: A manifestação clínica inicial de todos os pacientes foi dor na parede torácica ântero-superior há pelo menos quatro meses. Todos apresentavam achados de imagem de processo inflamatório e/ou osteíte e hiperostose nas articulações da parede torácica ântero-superior. As alterações cutâneas da síndrome, tipo pustulose palmoplantar, estiveram presentes em cinco dos seis pacientes. Em nenhum dos seis casos o diagnóstico foi sugerido na consulta clínica inicial ou na primeira interpretação das imagens feita por radiologistas não especialistas em sistema músculo-esquelético. CONCLUSÃO: Os nossos achados estão de acordo com os descritos na literatura, devendo ser considerado este diagnóstico em todo paciente que apresente quadro doloroso de parede torácica acompanhado de manifestações dermatológicas e/ou osteíte.OBJECTIVE: To describe the clinical, imaging and pathological findings of SAPHO syndrome and to point out that although considered rare this syndrome may be under-diagnosed by clinicians and radiologists, probably due to unfamiliarity with its features. MATERIALS AND METHODS: A retrospective study of six cases diagnosed in the last six years, with emphasis on clinical findings (age, sex and symptoms and imaging findings (bone scintigraphy, conventional x-ray, computed tomography and magnetic resonance imaging was conducted. RESULTS: The initial

  8. Comparison of the established definition criteria for diagnosing metabolic syndrome between overweight and obese children in Vojvodina

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    Vorgučin Ivana

    2011-01-01

    Full Text Available Background/Aim. Metabolic syndrome is a clinical term which encompasses obesity, insulin resistance, dyslipidemia, hypertension, as well as an increased risk of the development of diabetes mellitus type 2 and cardiovascular disorders in early adulthood. The prevalence of metabolic syndrome is increasing and directly related to the obesity rate among children. The aim of the research was to compare the established definition of the criteria for diagnosing metabolic syndrome in a sample group consisting of overweight and obese children in Vojvodina. Methods. The research was performed as a cross study analysis of 206 examinees. In terms of the sample group (25% children and 75% adolescents, 74% were obese and 26% overweight according to the body mass index (BMI. Two sets of criteria for diagnosing metabolic syndrome were applied in the sample of adolescents: the criteria for adults, specifically adapted for children, and the criteria defined by the International Diabetes Federation (IDF for children and adolescents. The research included the analysis of the following criteria: BMI, waist circumference, blood pressure, triglycerides, HDL cholesterol, glycemia and insulinemia during the oral glucose tolerance test (OGTT. Results. By applying the specific criteria for diagnosing the metabolic syndrome in children and adolescents on the whole sample, it was established that the metabolic syndrome was present in 41% of the examinees, while the application of the criteria defined by the IDF confirmed the diagnosis in 22% of the examinees. An analysis of the metabolic syndrome risk factors established that among the defined specific criteria the most frequent factors present were elevated BMI and the pathological results of the OGTT, while the least frequent was low HDL cholesterol. Among the criteria listed by the IDF, the most frequent metabolic syndrome factors were waist circumference and increased blood pressure, while the least frequent was

  9. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

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    Shanshan Xu

    2017-10-01

    Full Text Available Abstract Background Noonan syndrome (NS and Noonan syndrome with multiple lentigines (NSML are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagnosed ten NS or NSML patients via targeted sequencing or whole exome sequencing (TS/WES. Methods TS/WES was performed to identify mutations in ten Chinese patients who exhibited the following manifestations: potential facial dysmorphisms, short stature, congenital heart defects, and developmental delay. Sanger sequencing was used to confirm the suspected pathological variants in the patients and their family members. Results TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features. All the identified mutations were determined to be de novo mutations. However, two patients who carried the same mutation in the RAF1 gene presented different clinical features. One patient with multiple lentigines was diagnosed with NSML, while the other patient without lentigines was diagnosed with NS. In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS. Conclusions TS/WES has emerged as a useful tool for definitive diagnosis and accurate genetic counseling of atypical cases. In this study, we analyzed ten Chinese patients diagnosed with NS and related disorders and identified their correspondingPTPN11, RAF1, and BRAF mutations. Among the target genes, BRAF showed the same degree of correlation with NS incidence as that of PTPN11 or RAF1.

  10. Morbidity and medicine prescriptions in a nationwide Danish population of patients diagnosed with polycystic ovary syndrome.

    Science.gov (United States)

    Glintborg, Dorte; Hass Rubin, Katrine; Nybo, Mads; Abrahamsen, Bo; Andersen, Marianne

    2015-05-01

    The prevalence of type 2 diabetes is increased in polycystic ovary syndrome (PCOS), but the prevalence of other diseases is not clarified. We aimed to investigate morbidity and medicine prescriptions in PCOS. A National Register-based study. Patients with PCOS (PCOS Denmark and an embedded cohort; PCOS Odense University Hospital (OUH)) and one control population. Premenopausal women with PCOS underwent clinical and biochemical examination (PCOS OUH, n=1217). PCOS Denmark (n=19 199) included women with PCOS in the Danish National Patient Register. Three age-matched controls were included per patient (n=57 483). Diagnosis codes and filled prescriptions. The mean (range) age of the PCOS Denmark group and controls was 30.6 (12-60) years. Patients in PCOS Denmark had higher Charlson index, higher prevalence of diabetes, dyslipidemia, and hypertension than controls. PCOS was associated with a two times increased risk of stroke and thrombosis, whereas the risk of other cardiovascular diseases was not increased. Thyroid disease, asthma, migraine, and depression were more prevalent in PCOS Denmark vs controls, whereas fractures were rarer. Infertility was increased in patients compared with controls, but the mean number of births was higher in PCOS. Medicine prescriptions within all diagnosis areas were significantly higher in PCOS patients than in controls.In PCOS OUH, polycystic ovaries (PCO) and irregular menses were associated with a more adverse metabolic risk profile, but individual Rotterdam criteria were not associated with cardiometabolic diagnoses. Cardiometabolic and psychiatric morbidity were significantly increased in a Danish population with PCOS. Medical diseases are frequent also in young patients with PCOS. © 2015 European Society of Endocrinology.

  11. Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome.

    Science.gov (United States)

    King, Jessica E; Plamondon, Jenna; Counts, Debra; Laney, Dawn; Dixon, Shannan DeLany

    2016-02-01

    Delayed discussion about infertility with individuals affected by Turner syndrome (TS) has been found to result in psychological and social harm. The aim of this study was to identify barriers experienced when discussing infertility and determine resource types that may facilitate this conversation. An electronic survey, given to caregivers of girls with TS diagnosed at barriers in having the conversation. Although most individuals did not use resources to facilitate the conversation, they did express interest in additional resources.

  12. Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

    International Nuclear Information System (INIS)

    Lacerda, L.S.; Alves, U.D.; Zanier, J.F.C.; Machado, D.C.; Camilo, G.B.; Machado, D.C.; Camilo, G.B.; Lopes, A.J.

    2014-01-01

    Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Made lung’s disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions

  13. Members of the emergency medical team may have difficulty diagnosing rapid atrial fibrillation in Wolff-Parkinson-White syndrome.

    Science.gov (United States)

    Koźluk, Edward; Timler, Dariusz; Zyśko, Dorota; Piątkowska, Agnieszka; Grzebieniak, Tomasz; Gajek, Jacek; Gałązkowski, Robert; Fedorowski, Artur

    2015-01-01

    Atrial fibrillation (AF) in patients with Wolff-Parkinson-White (WPW) syndrome is potentially life-threatening as it may deteriorate into ventricular fibrillation. The aim of this study was to assess whether the emergency medical team members are able to diagnose AF with a rapid ventricular response due to the presence of atrioventricular bypass tract in WPW syndrome. The study group consisted of 316 participants attending a national congress of emergency medicine. A total of 196 questionnaires regarding recognition and management of cardiac arrhythmias were distributed. The assessed part presented a clinical scenario with a young hemodynamically stable man who had a 12-lead electrocardiogram performed in the past with signs of pre-excitation, and who presented to the emergency team with an irregular broad QRS-complex tachycardia. A total of 71 questionnaires were filled in. Only one responder recognized AF due to WPW syndrome, while 5 other responders recognized WPW syndrome and paroxysmal supraventricular tachycardia or broad QRS-complex tachycardia. About 20% of participants did not select any diagnosis, pointing out a method of treatment only. The most common diagnosis found in the survey was ventricular tachycardia/broad QRS-complex tachycardia marked by approximately a half of the participants. Nearly 18% of participants recognized WPW syndrome, whereas AF was recognized by less than 10% of participants. Members of emergency medical teams have limited skills for recognizing WPW syndrome with rapid AF, and ventricular tachycardia is the most frequent incorrect diagnosis.

  14. An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis.

    Science.gov (United States)

    Yoshimura, Hidekane; Iwasaki, Satoshi; Kanda, Yukihiko; Nakanishi, Hiroshi; Murata, Toshinori; Iwasa, Yoh-ichiro; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi

    2013-02-01

    Usher syndrome type 1 (USH1) appears to have only profound non-syndromic hearing loss in childhood and retinitis pigmentosa develops in later years. This study examined the frequency of USH1 before the appearance of visual symptoms in Japanese deaf children by MYO7A mutation analysis. We report the case of 6-year-old male with profound hearing loss, who did not have visual symptoms. The frequency of MYO7A mutations in profound hearing loss children is also discussed. We sequenced all exons of the MYO7A gene in 80 Japanese children with severe to profound non-syndromic HL not due to mutations of the GJB2 gene (ages 0-14 years). A total of nine DNA variants were found and six of them were presumed to be non-pathogenic variants. In addition, three variants of them were found in two patients (2.5%) with deafness and were classified as possible pathogenic variants. Among them, at least one nonsense mutation and one missense mutation from the patient were confirmed to be responsible for deafness. After MYO7A mutation analysis, the patient was diagnosed with RP, and therefore, also diagnosed with USH1. This is the first case report to show the advantage of MYO7A mutation analysis to diagnose USH1 before the appearance of visual symptoms. We believed that MYO7A mutation analysis is valid for the early diagnosis of USH1. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  15. Conundrums in neurology: diagnosing serotonin syndrome - a meta-analysis of cases.

    Science.gov (United States)

    Werneke, Ursula; Jamshidi, Fariba; Taylor, David M; Ott, Michael

    2016-07-12

    Serotonin syndrome is a toxic state, caused by serotonin (5HT) excess in the central nervous system. Serotonin syndrome's main feature is neuro-muscular hyperexcitability, which in many cases is mild but in some cases can become life-threatening. The diagnosis of serotonin syndrome remains challenging since it can only be made on clinical grounds. Three diagnostic criteria systems, Sternbach, Radomski and Hunter classifications, are available. Here we test the validity of four assumptions that have become widely accepted: (1) The Hunter classification performs clinically better than the Sternbach and Radomski criteria; (2) in contrast to neuroleptic malignant syndrome, the onset of serotonin syndrome is usually rapid; (3) hyperthermia is a hallmark of severe serotonin syndrome; and (4) serotonin syndrome can readily be distinguished from neuroleptic malignant syndrome on clinical grounds and on the basis of medication history. Systematic review and meta-analysis of all cases of serotonin syndrome and toxicity published between 2004 and 2014, using PubMed and Web of Science. Two of the four assumptions (1 and 2) are based on only one published study each and have not been independently validated. There is little agreement between current criteria systems for the diagnosis of serotonin syndrome. Although frequently thought to be the gold standard for the diagnosis of the serotonin syndrome, the Hunter criteria did not perform better than the Sternbach and Radomski criteria. Not all cases seem to be of rapid onset and only relatively few cases may present with hyperthermia. The 0 differential diagnosis between serotonin syndrome and neuroleptic malignant syndrome is not always clear-cut. Our findings challenge four commonly made assumptions about serotonin syndrome. We propose our meta-analysis of cases (MAC) method as a new way to systematically pool and interpret anecdotal but important clinical information concerning uncommon or emergent phenomena that cannot be

  16. Munchausen syndrome in the emergency department mostly difficult, sometimes easy to diagnose: a case report and review of the literature

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    Vanderbruggen Nathalie

    2009-11-01

    Full Text Available Abstract Munchausen syndrome is a rare psychiatric disorder in which patients inflict on themselves an illness or injury for the primary purpose of assuming the sick role. Because these patients can present with many different complaints and clinical symptoms, diagnosis is often made at a later stage of hospitalisation. In contrast we report a case of a 40-year old woman very easy to diagnose with Munchausen syndrome. This trained nurse presented at our emergency department (ED complaining of abdominal pain. Interviewed by the medical trainee, she immediately confessed having put a knitting needle into her urethra four days earlier. She was not able to remove it anymore because it was beyond her reach. Abdominal X-ray confirmed the presence of the needle and a median laparotomy was performed to remove it. The diagnosis of Munchausen syndrome seemed immediately obvious in this case.

  17. Collateral abdominal circulation in patient with Leriche's syndrome diagnosed with 64-row multislice computed tomography (MSCT)

    International Nuclear Information System (INIS)

    Staskiewicz, G.; Drop, A.

    2008-01-01

    Leriche's syndrome results from slowly developing occlusion of the abdominal aorta. It affects mainly middle-aged males. The blood flow distal to the occlusion site is secured by collateral circulation. Signs of Leriche's syndrome include claudication, gluteal pain and impotence. The paper presents a patient with Leriche's syndrome, in whom a detailed visualization of collateral circulation was obtained with multislice computed tomography angiography. Patient underwent surgical recanalization of the aorta with an excellent result. To our knowledge, the presented case is the first description of collateral circulation in Leriche's syndrome obtained with 64-row computed tomography. (author)

  18. Quantitative computed tomography measurements of emphysema for diagnosing asthma-chronic obstructive pulmonary disease overlap syndrome

    Science.gov (United States)

    Xie, Mengshuang; Wang, Wei; Dou, Shuang; Cui, Liwei; Xiao, Wei

    2016-01-01

    Background The diagnostic criteria of asthma–COPD overlap syndrome (ACOS) are controversial. Emphysema is characteristic of COPD and usually does not exist in typical asthma patients. Emphysema in patients with asthma suggests the coexistence of COPD. Quantitative computed tomography (CT) allows repeated evaluation of emphysema noninvasively. We investigated the value of quantitative CT measurements of emphysema in the diagnosis of ACOS. Methods This study included 404 participants; 151 asthma patients, 125 COPD patients, and 128 normal control subjects. All the participants underwent pulmonary function tests and a high-resolution CT scan. Emphysema measurements were taken with an Airway Inspector software. The asthma patients were divided into high and low emphysema index (EI) groups based on the percentage of low attenuation areas less than −950 Hounsfield units. The characteristics of asthma patients with high EI were compared with those having low EI or COPD. Results The normal value of percentage of low attenuation areas less than −950 Hounsfield units in Chinese aged >40 years was 2.79%±2.37%. COPD patients indicated more severe emphysema and more upper-zone-predominant distribution of emphysema than asthma patients or controls. Thirty-two (21.2%) of the 151 asthma patients had high EI. Compared with asthma patients with low EI, those with high EI were significantly older, more likely to be male, had more pack-years of smoking, had more upper-zone-predominant distribution of emphysema, and had greater airflow limitation. There were no significant differences in sex ratios, pack-years of smoking, airflow limitation, or emphysema distribution between asthma patients with high EI and COPD patients. A greater number of acute exacerbations were seen in asthma patients with high EI compared with those with low EI or COPD. Conclusion Asthma patients with high EI fulfill the features of ACOS, as described in the Global Initiative for Asthma and Global

  19. Rest/stress myocardial perfusion imaging: A means to prevent missed acute ischemic coronary syndrome diagnoses

    International Nuclear Information System (INIS)

    Fink-Bennett, D.; Pattekar, A.M.

    2002-01-01

    Aim: The sensitivity and specificity of rest/stress (R/S) myocardial perfusion imaging (MPI) in detecting an acute ischemic coronary syndrome (AICS) was determined in 100 consecutive patients (pts) admitted to the Chest Pain Clinic-Observation Unit (CPC-OU) with chest pain (CP) of suspected cardiac etiology and a negative (neg) or non diagnostic (dx) EKG. There were 57 females and 43 males, 30-83 years of age. 50 studies were performed from 1/15/98 to 4/2/98; 50 from 11/19/99 to 1/10/00. Material and Methods: An AICS was deemed present if a reversible perfusion defect was demonstrated scintigraphically; a ?50% luminal narrow angiographically. No AICS if the pt had a normal R/S MPI, a fixed defect with normal wall motion and thickening, a neg cardiac catheterization, or was free of cardiac symptoms and had no history of a vascular event for 2-3 years post CPC-OU admission. 13 pts with a positive MPI had a cardiac catheterization, none with a neg MPI. SPECT rest MPI's were performed 30-90 minutes (mins) post 10.0 mCi of technetium 99m Sestamibi. SPECT stress MPI's were performed following a 6-8 hour acute myocardial infarction enzyme (CP-MB/Troponin 1) rule out and 30-90 mins post 30.0 mCi of technetium 99m Sestamibi. Results: 29 pts were lost to follow-up. There were 12 true positive, 5 false positive, 54 true negative and 0 false negative studies. The sensitivity, specificity, positive and negative predictive value of a R/S MPI in detecting an AICS is 100%, 91%, 70% and 100%, respectively. An AICS was detected in 12% of pts admitted to the CPC-OU; a finding that correlates with its reported incidence of 2-12%. 6 were managed medically, 3 required emergent bypass surgery, 3 were stented. Conclusion: R/S MPI should be included in the CPC-OU dx work-up of pts with CP of suspected cardiac etiology to prevent missed AICS diagnoses. Patient care will be optimized and health care and medical malpractice awards for failure to diagnosis an acute myocardial infarction

  20. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

    Science.gov (United States)

    Piane, Maria; Della Monica, Matteo; Piatelli, Gianluca; Lulli, Patrizia; Lonardo, Fortunato; Chessa, Luciana; Scarano, Gioacchino

    2009-11-01

    We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. Copyright 2009 Wiley-Liss, Inc.

  1. Screening of coeliac disease in undetected adults and patients diagnosed with irritable bowel syndrome in Riyadh, Saudi Arabia.

    Science.gov (United States)

    Al-Ajlan, Abdulrahman S

    2016-07-01

    The present study is to determine the prevalence and implication of coeliac disease (CD) among adult Saudis and compared to those with diagnosed irritable bowel syndrome. This prospective study was conducted among 980 adults. Out of that, 482 subjects (staff and students of Riyadh Health Science College) were designated as control cohorts for undetected coeliac disease. Furthermore, another contingent of 498 subjects diagnosed with irritable bowel syndrome (IBS) at Prince Salman Hospital and Al-Iman General Hospital also constituted a segment of the overall initial 1020 subjects. Both cases and control were tested for serological markers of coeliac disease (tissues transglutaminase (tTGAs) and endomysial autoantibody (EMAs) and were confirmed by histopathology test. All the positive for cases of coeliac disease were screened for iron deficiency anaemia, Vitamin D deficiency, and osteoporosis and weight assessment. The percentage of coeliac disease in control subjects and patients diagnosed with irritable bowel syndrome (IBS) were found to be 1.9% and 9.6% respectively, about 38% of the total coeliac disease patients are among females of middle age (20-39-years) and 16% of the males in the same age range. Whereas, 20% and 25% of all coeliac disease cases with ages of 40-59 were remarked as females and males respectively. The identical nature and overlap of symptoms of the two conditions could possibly result in misdiagnosis of coeliac diseases or over-diagnosis of irritable bowel syndrome. The findings of the study might also give considerable implications of the disease in the nutritional level which is noticeable.

  2. Screening of coeliac disease in undetected adults and patients diagnosed with irritable bowel syndrome in Riyadh, Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Abdulrahman S. Al-Ajlan

    2016-07-01

    Full Text Available The present study is to determine the prevalence and implication of coeliac disease (CD among adult Saudis and compared to those with diagnosed irritable bowel syndrome. This prospective study was conducted among 980 adults. Out of that, 482 subjects (staff and students of Riyadh Health Science College were designated as control cohorts for undetected coeliac disease. Furthermore, another contingent of 498 subjects diagnosed with irritable bowel syndrome (IBS at Prince Salman Hospital and Al-Iman General Hospital also constituted a segment of the overall initial 1020 subjects. Both cases and control were tested for serological markers of coeliac disease (tissues transglutaminase (tTGAs and endomysial autoantibody (EMAs and were confirmed by histopathology test. All the positive for cases of coeliac disease were screened for iron deficiency anaemia, Vitamin D deficiency, and osteoporosis and weight assessment. The percentage of coeliac disease in control subjects and patients diagnosed with irritable bowel syndrome (IBS were found to be 1.9% and 9.6% respectively, about 38% of the total coeliac disease patients are among females of middle age (20–39-years and 16% of the males in the same age range. Whereas, 20% and 25% of all coeliac disease cases with ages of 40–59 were remarked as females and males respectively. The identical nature and overlap of symptoms of the two conditions could possibly result in misdiagnosis of coeliac diseases or over-diagnosis of irritable bowel syndrome. The findings of the study might also give considerable implications of the disease in the nutritional level which is noticeable.

  3. Pseudo-meigs syndrome due to subserosal leiomyoma diagnosed by MR imaging: case report

    International Nuclear Information System (INIS)

    Park, Hyun Jin; Jung, Seung Eun; Lee, Jae Mun; Lee, Kyo Young; Han, Ku Taek; Hahn, Seong Tai

    2002-01-01

    We report a case of pseudo-meigs syndrome due to a large subserosal leiomyoma in a patient with a high serum carcinogenic antigen 125 level. Initial clinical examination suggested disseminated malignant disease though the typical signal characteristics of leiomyoma, seen at MR imaging, led to the diagnosis of pseudo-meigs syndrome

  4. Pseudo-meigs syndrome due to subserosal leiomyoma diagnosed by MR imaging: case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Hyun Jin; Jung, Seung Eun; Lee, Jae Mun; Lee, Kyo Young; Han, Ku Taek; Hahn, Seong Tai [The Catholic University of Korea, Seoul (Korea, Republic of)

    2002-12-01

    We reports a case of pseudo-meigs syndrome due to a large subserosal leiomyoma in a patient with a high serum carcinogenic antigen 125 level. Initial clinical examination suggested disseminated malignant disease though the typical signal characteristics of leiomyoma, seen at MR imaging, led to the diagnosis of pseudo-meigs syndrome.

  5. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome

    NARCIS (Netherlands)

    van Steensel, Maurice A. M.; van Geel, Michel; Nahuys, Marc; Smitt, J. Henk Sillevis; Steijlen, Peter M.

    2002-01-01

    Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is

  6. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

    NARCIS (Netherlands)

    Steensel, M.A.M. van; Geel, M. van; Nahuys, M.; Smitt, J.H.; Steijlen, P.M.

    2002-01-01

    Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is

  7. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

    Science.gov (United States)

    Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly-Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux-Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel-Roy, Camille; Carré-Pigeon, Frédérique; Flori, Elisabeth; Mugneret, Francine; Jaillard, Sylvie; Yardin, Catherine; Harbuz, Radu; Collonge-Rame, Marie-Agnès; Vago, Philippe; Valduga, Mylène; Leporrier, Nathalie; Vialard, François

    2016-06-01

    Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  8. Effect of clomifene citrate plus metformin and clomifene citrate plus placebo on induction of ovulation in women with newly diagnosed polycystic ovary syndrome: randomised double blind clinical trial

    NARCIS (Netherlands)

    Moll, Etelka; Bossuyt, Patrick M. M.; Korevaar, Johanna C.; Lambalk, Cornelis B.; van der Veen, Fulco

    2006-01-01

    OBJECTIVE: To compare the effectiveness of clomifene citrate plus metformin and clomifene citrate plus placebo in women with newly diagnosed polycystic ovary syndrome. DESIGN: Randomised clinical trial. SETTING: Multicentre trial in 20 Dutch hospitals. PARTICIPANTS: 228 women with polycystic ovary

  9. Psychiatric diagnoses in patients with burning mouth syndrome and atypical odontalgia referred from psychiatric to dental facilities

    Science.gov (United States)

    Takenoshita, Miho; Sato, Tomoko; Kato, Yuichi; Katagiri, Ayano; Yoshikawa, Tatsuya; Sato, Yusuke; Matsushima, Eisuke; Sasaki, Yoshiyuki; Toyofuku, Akira

    2010-01-01

    Background Burning mouth syndrome (BMS) and atypical odontalgia (AO) are two conditions involving chronic oral pain in the absence of any organic cause. Psychiatrically they can both be considered as “somatoform disorder”. From the dental point of view, however, the two disorders are quite distinct. BMS is a burning or stinging sensation in the mouth in association with a normal mucosa whereas AO is most frequently associated with a continuous pain in the teeth or in a tooth socket after extraction in the absence of any identifiable cause. Because of the absence of organic causes, BMS and AO are often regarded as psychogenic conditions, although the relationship between oral pain and psychologic factors is still unclear. Some studies have analyzed the psychiatric diagnoses of patients with chronic oral pain who have been referred from dental facilities to psychiatric facilities. No study to date has investigated patients referred from psychiatric facilities to dental facilities. Objective To analyze the psychiatric diagnoses of chronic oral pain patients, diagnosed with BMS and AO, and referred from psychiatric facilities to dental facilities. Study design Psychiatric diagnoses and disease conditions of BMS or AO were investigated in 162 patients by reviewing patients’ medical records and referral forms. Psychiatric diagnoses were categorized according to the International Statistical Classification of Disease and Related Health Problems, Tenth Revision. Results The proportion of F4 classification (neurotic, stress-related, and somatoform disorders) in AO patients was significantly higher than in BMS patients. BMS patients were more frequently given a F3 classification (mood/affective disorders). However, 50.8% of BMS patients and 33.3% of AO patients had no specific psychiatric diagnoses. Conclusion Although BMS and AO are both chronic pain disorders occurring in the absence of any organic cause, the psychiatric diagnoses of patients with BMS and AO differ

  10. Bifactor Modeling of the Positive and Negative Syndrome Scale: Generalized Psychosis Spans Schizoaffective, Bipolar, and Schizophrenia Diagnoses.

    Science.gov (United States)

    Anderson, Ariana E; Marder, Stephen; Reise, Steven P; Savitz, Adam; Salvadore, Giacomo; Fu, Dong Jing; Li, Qingqin; Turkoz, Ibrahim; Han, Carol; Bilder, Robert M

    2018-02-06

    Common genetic variation spans schizophrenia, schizoaffective and bipolar disorders, but historically, these syndromes have been distinguished categorically. A symptom dimension shared across these syndromes, if such a general factor exists, might provide a clearer target for understanding and treating mental illnesses that share core biological bases. We tested the hypothesis that a bifactor model of the Positive and Negative Syndrome Scale (PANSS), containing 1 general factor and 5 specific factors (positive, negative, disorganized, excited, anxiety), explains the cross-diagnostic structure of symptoms better than the traditional 5-factor model, and examined the extent to which a general factor reflects the overall severity of symptoms spanning diagnoses in 5094 total patients with a diagnosis of schizophrenia, schizoaffective, and bipolar disorder. The bifactor model provided superior fit across diagnoses, and was closer to the "true" model, compared to the traditional 5-factor model (Vuong test; P schizoaffective, and bipolar disorder. © The Author(s) 2018. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com

  11. The information needs of women diagnosed with Polycystic Ovarian Syndrome – implications for treatment and health outcomes

    Directory of Open Access Journals (Sweden)

    Braunack-Mayer Annette J

    2007-06-01

    Full Text Available Abstract Background This paper reports the findings of an exploratory study about the information women diagnosed with Polycystic Ovarian Syndrome (PCOS want to know about their condition and the consequences of this information for future treatment and health outcomes. Methods In-depth qualitative interviews regarding their information needs were undertaken with ten South Australian women diagnosed with PCOS. These women were aged 28–38 years and at differing stages of their fertility experience. The time since diagnosis ranged from 1–17 years. The main outcome measures sought were the identification of the information needs of women diagnosed with Polycystic Ovarian Syndrome (PCOS during different periods of their lives; how and where they obtain this information, and the consequences of this information for future treatment and health outcomes. Results The women with PCOS in this study preferentially used the Internet for their information needs, as it had the advantages of convenience, privacy and accessibility, when compared with traditional mechanisms of information provision. Conclusion Giving a name to a collection of symptoms may bring relief and provide recognition that there really is a problem. However, with a diagnosis comes the need to have questions answered. A diagnosis of a chronic condition such as PCOS necessitates decision-making regarding possible treatment strategies and lifestyle choices. Information is needed in order to participate in shared decision making. The Internet proved to be a most versatile and beneficial source of information source for women with PCOS, if its limitations are taken into consideration.

  12. Gender dysphoria in an adolescent diagnosed with Klinefelter syndrome over a follow-up period

    OpenAIRE

    Tunas, Sabide Duygu; Dinc, Gulser; Goker, Zeynep; Uneri, Ozden Sukran

    2018-01-01

    Although genetic factors have been thought to be maincause for gender dysphoria, its etiology is still not clearly understood. Klinefeltersyndrome is the most seen sex chromosomal disorder. In the literature, thereare fewer case reports in connection with Klinefelter syndrome and genderdysphoria. Herein, we report a 16-year-old adolescent patient displaying genderdysphoria features, who has revealed Klinefelter syndrome after geneticexamination, and has been treated with testosterone hormone,...

  13. Metabolic syndrome in Japanese diagnosed with visceral fat measurement by computed tomography

    International Nuclear Information System (INIS)

    Miyawaki, Takashi; Aono, Hideshi; Saito, Nobuo; Hirata, Masakazu; Nakao, Kazuwa; Moriyama, Kenji; Sasaki, Yutaka

    2005-01-01

    The metabolic syndrome represents an aggregation of cardiovascular risk factors including obesity, raised blood pressure, impaired glucose tolerance, and dyslipidemia that are associated with increased incidence of arteriosclerosis. Evidence accumulated indicates that the visceral fat accumulation is essential in the development of the syndrome. To investigate the prevalence of the metabolic syndrome in Japan, we analyzed cross-sectional data from 3574 middle aged Japanese (2947 men and 627 women, aged 40-59 years) in a large company, whose visceral fat accumulation was assessed by computed tomography. We employed receiver operation characteristic analysis to identify the optimal visceral fat area (VFA) value that has the sensitivity and the specificity to predict the presence of at least two components of the syndrome in an individual. The sensitivities and the specificities for men were 0.67 and 0.60 at VFA of 100 cm 2 , and for women, 0.73 and 0.70 at VFA of 65 cm 2 , respectively. Waist circumferences that corresponded to the VFA cutoff were 86.0 cm for men, and 77.0 cm for women. Using 100 cm 2 in men and 65 cm 2 in women as the criteria of visceral adiposity, the prevalence of the metabolic syndrome was 25.5% in men and 11.0% in women. Although obesity is less prevalent than in western countries, the metabolic syndrome is substantially widespread in Japan. (author)

  14. Metabolic syndrome in Japanese diagnosed with visceral fat measurement by computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Miyawaki, Takashi; Aono, Hideshi; Saito, Nobuo [NTT West Kyoto Hospital, Health Administration Center, Kyoto, Kyoto (Japan); Hirata, Masakazu; Nakao, Kazuwa [Kyoto Univ., Graduate School of Medicine, Kyoto, Kyoto (Japan); Moriyama, Kenji; Sasaki, Yutaka [NTT West Corp., Kansai Health Administration Center, Kyoto, Kyoto (Japan)

    2005-09-15

    The metabolic syndrome represents an aggregation of cardiovascular risk factors including obesity, raised blood pressure, impaired glucose tolerance, and dyslipidemia that are associated with increased incidence of arteriosclerosis. Evidence accumulated indicates that the visceral fat accumulation is essential in the development of the syndrome. To investigate the prevalence of the metabolic syndrome in Japan, we analyzed cross-sectional data from 3574 middle aged Japanese (2947 men and 627 women, aged 40-59 years) in a large company, whose visceral fat accumulation was assessed by computed tomography. We employed receiver operation characteristic analysis to identify the optimal visceral fat area (VFA) value that has the sensitivity and the specificity to predict the presence of at least two components of the syndrome in an individual. The sensitivities and the specificities for men were 0.67 and 0.60 at VFA of 100 cm{sup 2}, and for women, 0.73 and 0.70 at VFA of 65 cm{sup 2}, respectively. Waist circumferences that corresponded to the VFA cutoff were 86.0 cm for men, and 77.0 cm for women. Using 100 cm{sup 2} in men and 65 cm{sup 2} in women as the criteria of visceral adiposity, the prevalence of the metabolic syndrome was 25.5% in men and 11.0% in women. Although obesity is less prevalent than in western countries, the metabolic syndrome is substantially widespread in Japan. (author)

  15. Eating avoidance disorder and Wernicke-Korsakoff syndrome following gastric bypass: an under-diagnosed association.

    Science.gov (United States)

    Fandiño, Julia N; Benchimol, Alexander K; Fandiño, Leila N; Barroso, Fernando L; Coutinho, Walmir F; Appolinário, José C

    2005-09-01

    Wernicke-Korsakoff syndrome (WKS) and disordered eating behavior have been reported separately after bariatric surgery. We report a patient who following a bariatric operation developed WKS associated with a disturbed eating behavior without vomiting. This morbidly obese man developed an intense fear of gaining weight in the postoperative period and engaged in an extreme form of "food avoidance behavior". 2 months postoperatively after severe weight loss, he was hospitalized with disorientation and an amnesic syndrome. He was discharged 2 months later with stable weight and regular eating habits. Despite this, at the last follow-up visit 2 years postoperatively, he still had a residual partial amnesic syndrome. The surgical team must be aware of peculiar forms of pathological eating that may appear after bariatric surgery; the emergence of an eating avoidance disorder may be associated with the development of WKS.

  16. Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers.

    Science.gov (United States)

    Kim, Young June; Kwon, Hyuk Jin; Byun, Hyuk Soo; Yeom, Donguk; Choi, Jea-Hong; Kim, Joong-Hyun; Shim, Hosup

    2017-12-31

    Persistent Müllerian duct syndrome (PMDS) is a pseudohermaphroditism in males characterized by the presence of Müllerian duct derivatives. As PMDS dogs often lack clinical symptoms, a molecular diagnosis is essential to identify the syndrome in these animals. In this study, a new molecular method using DNA mismatch-specific Surveyor nuclease was developed. The Surveyor nuclease assay identified the AMHR2 mutation that produced PMDS in a Miniature Schnauzer as accurately as that obtained by using the conventional method based on restriction digestion. As an alternative to the current molecular diagnostic method, the new method may result in increased accuracy when detecting PMDS.

  17. Prevalence and determinants of metabolic syndrome among newly diagnosed type 2 diabetic subjects according to different criteria.

    Science.gov (United States)

    Hossain, Sharmin; Fatema, Kaniz; Ahmed, Kazi R; Akter, Jesmin; Chowdhury, Hasina A; Shahjahan, Md; Acharyya, Amitava; Rahim, M A; Ali, Liaquat

    2015-01-01

    Metabolic syndrome (MS) is becoming a serious global public health problem. The prevalence of MS differs in different population by using different definitions. Present study aimed to find out the prevalence and determinants of MS among newly diagnosed type 2 diabetes (NDT2D) according to different criteria. This cross-sectional analytic study was conducted among 281 subjects selected purposively from the OPD of BIRDEM. Information on lifestyle factors and disease history were collected using a semi-structured questionnaire by face to face interview. The three definitions of MS used in this study are from the International Diabetes Federation (IDF), a modified version of the ATP III criteria for Asian populations (modified ATP III) and World Health Organization (WHO) criteria. Adjusted odds ratio and confidence limit were generated through logistic regression. The overall prevalence of metabolic syndrome among the study subjects according to modified ATPIII, WHO and IDF criteria were 79% (95% CI: 74.2-83.8), 81% (95% CI: 76.4-85.6) and 68% (95% CI: 62.6-73.5) respectively. The prevalence of metabolic syndrome among female were higher compared to males in all the criteria's. Female gender (OR=5.93), family history of diabetes (OR=1.92), overweight (OR=6.2), and obesity (OR=5.13) were found as important confounders associated with metabolic syndrome. The prevalence of the metabolic syndrome among NDT2D is considerably higher in our population which may indicate considerable risk of cardiovascular diseases in future. Female gender, family history of diabetes, overweight and obesity are important confounders of MS in this population. Copyright © 2014 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  18. Diagnosing and management of iatrogenic moderate and severe ovarian hyperstymulation syndrome (OHSS in clinical material.

    Directory of Open Access Journals (Sweden)

    Anna Fritz

    2008-04-01

    Full Text Available Severe ovarian hyperstymulation syndrome is a rare but potentially life-threatening complication in patients undergoing assisted reproductive techniques (ART. The pathogenesis of this condition is likely to be multifactorial. The aim of the retrospective study was to present management in moderate and severe iatrogenic ovarian hyperstymulation syndrome (OHSS in clinical material. The study group was 19 women, admitted to the Department of Obstetrics and Gynecology in Central Clinical Hospital of Ministry of Interior and Administration in Warsaw from large outpatient infertility center "Novum" in Warsaw with moderate and severe OHSS between 14.07.2004 and 8.11.2005. Laboratory tests and ultrasound examination of the ovarian size and ascites were performed, abdominal circumference was measured. Patients were treated with rehydration with intravenous crystalloids and colloids, diuretics, antibiotics, anticoagulants and ultrasound-guided paracentesis if symptoms of ascites become severe (ascites causes pain and compromised pulmonary function. Oral intake of water was restricted, monitoring of fluid intake and output, and daily monitoring of body weight was performed. During treatment controlled laboratory tests were done. In one patient occurred intra-abdominal hemorrhage from ovarian rupture and laparotomy with oophorectomy was performed. The ovarian hyperstimulation syndrome is still a difficult diagnostic and therapeutic problem and more studies are required to elucidate pathophysiology of OHSS. Because of still unknown etiology treatment is empirical and in most of cases bases on experience of medical team. Thus, the management in individual patients varies according to the severity of ovarian hyperstymulation syndrome and its complications.

  19. Prevalence of Diagnosed Tourette Syndrome in Persons Aged 6-17 Years--United States, 2007

    Science.gov (United States)

    Centers for Disease Control and Prevention, 2009

    2009-01-01

    Tourette syndrome (TS) is an inheritable, childhood-onset neurologic disorder marked by persistent multiple motor tics and at least one vocal tic. Tics are involuntary, repetitive, stereotypic movements or vocalizations that are usually sudden and rapid and often can be suppressed for short periods. The prevalence of TS is uncertain; the broad…

  20. Initial and follow-up MRI in a case of early diagnosed Reye's syndrome

    International Nuclear Information System (INIS)

    Ozdoba, C.; Pfenninger, J.; Schroth, G.

    1997-01-01

    Early MRI in a case of clinically established Reye's syndrome confirmed CT findings of compressed ventricles and additionally demonstrated signal alterations in the thalamus, mesencephalon and pons. On follow-up MRI the pontine lesion had vanished by 1 week later, while the thalamic lesion persisted for more than 2 months. The patient, however, recovered without neurological sequelae. (orig.). With 3 figs

  1. Prader Willy’s syndrome diagnosed in extremely obese female adolescent

    Directory of Open Access Journals (Sweden)

    Lešović Snežana

    2017-01-01

    Full Text Available Introduction: Nutritional obesity is the most common cause of obesity (95% in childhood and adolescence. Morbid obesity (5%, which usually begins at an early age, can be caused by monogenic disorders, various genetic syndromes, endocrine diseases-disorders, central nervous system lesions or iatrogenic causes. Presentation of the patient: A female adolescent aged 13 is presented who was due to obesity referred to the Center for the Prevention and Treatment of Obesity in children and adolescents at the Special Hospital “Cigota” at Mt. Zlatibor. Low height/stature and dysmorphic features: a face with a narrow bifrontal diameter, almond-shaped eyes, strabismus, small hands and feet, delay in puberty development and lagging in psychomotor development have indicated the morbid obesity. Anamnestic data on hypotonia and difficulty in feeding, psychomotor lagging behind, obesity since the third year of age, triggered a suspicion of Prader Willy’s syndrome. The suspicion of this syndrome was confirmed by a molecular DNA analysis which indicated a deletion on the long arm 15q11.2. Conclusion: Obesity, endocrinolopathies, retardation in psychomotor development and behavioral disorders in people with Prader Willy’s syndrome require a complex multidisciplinary treatment. Early diagnosis and adequate treatment prevent the occurrence of complications and improve the quality and length of life of the patients.

  2. Work disability in newly diagnosed patients with primary Sjögren syndrome

    DEFF Research Database (Denmark)

    Mandl, Thomas; Jørgensen, Tanja Schjødt; Skougaard, Marie

    2017-01-01

    yrs, range 18-61 yrs, 50 women) diagnosed with pSS between January 2001 and December 2012 were included in the study. For each patient we randomly selected 4 reference subjects from the general population and matched for age, sex, and area of residence. We linked data to the Swedish Social Insurance...

  3. Spatial and temporal patterns of pig herds diagnosed with Postweaning Multisystemic Wasting Syndrome (PMWS) during the first two years of its occurrence in Denmark

    DEFF Research Database (Denmark)

    Vigre, Håkan; Bækbo, P.; Jorsal, Sven Erik Lind

    2005-01-01

    two years after the first herd was diagnosed, and we tested for spatial and spatio-temporal clustering using scan statistics. The study population consisted of pig herds that during the study period (October 2001 - September 2003) performed diagnostic submissions to the two major veterinary diagnostic......The clinical syndrome Postweaning Multisystemic Wasting Syndrome (PMWS) in pigs has emerged globally during the last decade. In October 2001, the first pig herd diagnosed with PMWS was reported in Denmark, and since then the number of herds diagnosed with PMWS has increased markedly. The etiology...... laboratories in Denmark (6724 herds). Of these, 277 herds were diagnosed with PMWS. Two statistically significant spatial clusters of herds diagnosed with PMWS were identified. These clusters included 11% and 8% of the study herds, respectively. Within these two clusters the relative risk for a herd...

  4. Premenstrual syndrome: Symptomatic and diagnosed prevalence, dualistic treatment approach – A cross-sectional study in Ukraine

    Directory of Open Access Journals (Sweden)

    Edith Meszaros Crow

    2017-01-01

    Full Text Available Background: Diagnosing and treatment of premenstrual syndrome (PMS still pose a challenge in the routine medical practice which usually focuses on single pharmacological therapy. Recent research suggests that the combination of treatments including complementary alternative medicine (CAM therapies may be more beneficial. The objective of this study was to assess the percentage of diagnosed and nondiagnosed PMS/premenstrual dysphoric disorder (PMDD based on the presence of adequate symptoms and to compare population using hormonal or pharmaceutical agents versus CAM therapies. Methods: This is a cross-sectional study targeting sample population of 160 females of potentially reproductive age done in Ukraine between May 2014 and April 2015. Results: According to declared symptoms, 29% females versus 26% previously diagnosed by a medical professional qualify for “moderate/severe PMS,” P > 0.05. In 30% persons using pharmacological agents, major side effects, namely, nausea, insomnia, headache was caused by painkillers, contraceptives, and antidepressants. Only 37.5% of study population has been using CAM therapy methods to deal with the symptoms of PMS. Of these, 22% have achieved moderate degree in relief of the symptoms long term. Conclusions: We have concluded that when dealing with the burden of PMS/PMDD, the affected treatment-seeking women should have choice and access to the variety of therapies within integrative medicine (both conventional and nonconventional.

  5. Psychiatric diagnoses in patients with burning mouth syndrome and atypical odontalgia referred from psychiatric to dental facilities

    Directory of Open Access Journals (Sweden)

    Miho Takenoshita

    2010-10-01

    Full Text Available Miho Takenoshita1, Tomoko Sato1, Yuichi Kato1, Ayano Katagiri1, Tatsuya Yoshikawa1, Yusuke Sato2, Eisuke Matsushima3, Yoshiyuki Sasaki4, Akira Toyofuku11Psychosomatic Dentistry, 2Complete Denture Prosthodontics, 3Liaison Psychiatry and Palliative Medicine, 4Center for Education and Research in Oral Health Care, Faculty of Dentistry, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, JapanBackground: Burning mouth syndrome (BMS and atypical odontalgia (AO are two conditions involving chronic oral pain in the absence of any organic cause. Psychiatrically they can both be considered as “somatoform disorder”. From the dental point of view, however, the two disorders are quite distinct. BMS is a burning or stinging sensation in the mouth in association with a normal mucosa whereas AO is most frequently associated with a continuous pain in the teeth or in a tooth socket after extraction in the absence of any identifiable cause. Because of the absence of organic causes, BMS and AO are often regarded as psychogenic conditions, although the relationship between oral pain and psychologic factors is still unclear. Some studies have analyzed the psychiatric diagnoses of patients with chronic oral pain who have been referred from dental facilities to psychiatric facilities. No study to date has investigated patients referred from psychiatric facilities to dental facilities.Objective: To analyze the psychiatric diagnoses of chronic oral pain patients, diagnosed with BMS and AO, and referred from psychiatric facilities to dental facilities.Study design: Psychiatric diagnoses and disease conditions of BMS or AO were investigated in 162 patients by reviewing patients’ medical records and referral forms. Psychiatric diagnoses were categorized according to the International Statistical Classification of Disease and Related Health Problems, Tenth Revision.Results: The proportion of F4 classification (neurotic, stress

  6. Irritable bowel syndrome diagnosed in primary care : Occurrence, treatment and impact on everyday life

    OpenAIRE

    Olsen Faresjö, Åshild

    2006-01-01

    Background: IBS is the most common functional gastrointestinal disorders and affects approximately 10-20 % of the general population and is widespread in all societies and socio-economic groups. Although the disorder does not have a life-threatening course, it still seriously affects the patients in their everyday life. Aim: The general aims of this thesis were to estimate the occurrence of irritable bowel syndrome in the general population and to achieve a better understanding of present tre...

  7. The modified NCEP ATP III criteria maybe better than the IDF criteria in diagnosing Metabolic Syndrome among Malays in Kuala Lumpur

    Directory of Open Access Journals (Sweden)

    Bulgiba Awang

    2010-11-01

    Full Text Available Abstract Background Metabolic Syndrome is associated with increased risk for type 2 diabetes and cardiovascular diseases. However, different diagnostic criteria have been recommended by different expert groups. In Malaysia, there is a lack of research comparing these different diagnostic criteria. Therefore, it is our aim to study the concordance between the IDF and the modified NCEP ATP III definitions of Metabolic Syndrome among a Malay cohort in Kuala Lumpur; and to demonstrate if all participants have the same cardiometabolic risks. Methods This was an analytical cross sectional study. Ethics approval was obtained and informed consent was given by all participants. Anthropometric measurements, blood pressure, fasting blood glucose and lipid profile were taken following standard protocols. Results Metabolic Syndrome was diagnosed in 41.4% and 38.2% participants using the modified NCEP and IDF criteria respectively. Among those diagnosed with Metabolic Syndrome by modified NCEP, 7.6% were missed by the IDF criteria. Participants diagnosed by the modified NCEP criteria had lower BMI and waist circumference but had higher cardiometabolic risks than those diagnosed with both criteria. Their blood pressure, glucose, total cholesterol and triglyceride were more adverse than the IDF group. This demonstrated that central obesity may not be a prerequisite for the development of increased cardiometabolic risks within this Malay cohort. Conclusion Metabolic syndrome is common in this Malay cohort regardless of the criterion used. The modified NCEP ATP III criteria may be more suitable in diagnosis of metabolic syndrome for this Malay cohort.

  8. Diagnosing chronic fatigue syndrome in south asians: Lessons from a secondary analysis of a UK qualitative study

    Directory of Open Access Journals (Sweden)

    R Erandie Ediriweera De Silva

    2013-01-01

    Full Text Available Background: Chronic fatigue syndrome/myalgic encephalitis (CFS/ME is rarely diagnosed in South Asia (SA, although the symptoms of this condition are seen in the population. Lessons from UK based South Asian, Black and Minority Ethnic (BME communities may be of value in identifying barriers to diagnosis of CFS/ME in SA. Objectives: To explore why CFS/ME may not be commonly diagnosed in SA. Settings and Design: A secondary analysis of qualitative data on the diagnosis and management of CFS/ME in BME people of predominantly South Asian origin in the UK using 27 semi-structured qualitative interviews with people with CFE/ME, carers, general practitioners (GPs, and community leaders. Results: CFS/ME is seen among the BME communities in the UK. People from BME communities in the UK can present to healthcare practitioners with vague physical complaints and they can hold a biomedical model of illness. Patients found it useful to have a label of CFS/ME although some GPs felt it to be a negative label. Access to healthcare can be limited by GPs reluctance to diagnose CFS/ME, their lack of knowledge and patients negative experiences. Cultural aspects among BME patients in the UK also act as a barrier to the diagnosis of CFS/ME. Conclusion: Cultural values and practices influence the diagnosis of CFS/ME in BME communities. The variations in the perceptions around CFS/ME among patients, carers, and health professionals may pose challenges in diagnosing CFS/ME in SA as well. Raising awareness of CFS/ME would improve the diagnosis and management of patients with CFS/ME in SA.

  9. Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist's initiative.

    Science.gov (United States)

    Landsbergen, K M; Prins, J B; Brunner, H G; van Duijvendijk, P; Nagengast, F M; van Krieken, J H; Ligtenberg, M; Hoogerbrugge, N

    2012-06-01

    According to the Dutch Guideline on Hereditary Colorectal Cancer published in 2008, patients with recently diagnosed colorectal cancer (CRC) should undergo microsatellite instability (MSI) testing by a pathologist immediately after tumour resection if they are younger than 50 years, or if a second CRC has been diagnosed before the age of 70 years, owing to the high risk of Lynch syndrome (MIPA). The aim of the present MIPAPS study was to investigate general distress and cancer-specific distress following MSI testing. From March 2007 to September 2009, 400 patients who had been tested for MSI after newly diagnosed CRC were recruited from 30 Dutch hospitals. Levels of general distress (SCL-90) and cancer-specific distress (IES) were assessed immediately after MSI result disclosure (T1) and 6 months later (T2). Response rates were 23/77 (30%) in the MSI-positive patients and 58/323 (18%) in the MSI-negative patients. Levels of general distress and cancer-specific distress were moderate. In the MSI-positive group, 27% of the patients had high general distress at T1 versus 18% at T2 (p = 0.5), whereas in the MSI-negative group, these percentage were 14 and 18% (p = 0.6), respectively. At T1 and T2, cancer-specific distress rates in the MSI-positive group and MSI-negative group were 39 versus 27% (p = 0.3) and 38 versus 36% (p = 1.0), respectively. High levels of general distress were correlated with female gender, low social support and high perceived cancer risk. Moderate levels of distress were observed after MSI testing, similar to those found in other patients diagnosed with CRC. Immediately after result disclosure, high cancer-specific distress was observed in 40% of the MSI-positive patients.

  10. Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.

    Science.gov (United States)

    January, Kathleen; Conway, Laura J; Deardorff, Matthew; Harrington, Ann; Krantz, Ian D; Loomes, Kathleen; Pipan, Mary; Noon, Sarah E

    2016-06-01

    Given the clinical complexities of Cornelia de Lange Syndrome (CdLS), the Center for CdLS and Related Diagnoses at The Children's Hospital of Philadelphia (CHOP) and The Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center (GBMC) were established to develop a comprehensive approach to clinical management and research issues relevant to CdLS. Little work has been done to evaluate the general utility of a multispecialty approach to patient care. Previous research demonstrates several advantages and disadvantages of multispecialty care. This research aims to better understand the benefits and limitations of a multidisciplinary clinic setting for individuals with CdLS and related diagnoses. Parents of children with CdLS and related diagnoses who have visited a multidisciplinary clinic (N = 52) and who have not visited a multidisciplinary clinic (N = 69) were surveyed to investigate their attitudes. About 90.0% of multispecialty clinic attendees indicated a preference for multidisciplinary care. However, some respondents cited a need for additional clinic services including more opportunity to meet with other specialists (N = 20), such as behavioral health, and increased information about research studies (N = 15). Travel distance and expenses often prevented families' multidisciplinary clinic attendance (N = 41 and N = 35, respectively). Despite identified limitations, these findings contribute to the evidence demonstrating the utility of a multispecialty approach to patient care. This approach ultimately has the potential to not just improve healthcare for individuals with CdLS but for those with medically complex diagnoses in general. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  11. Generalized Hyperalgesia in Children and Adults Diagnosed With Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility Type: A Discriminative Analysis.

    Science.gov (United States)

    Scheper, M C; Pacey, V; Rombaut, L; Adams, R D; Tofts, L; Calders, P; Nicholson, L L; Engelbert, R H H

    2017-03-01

    Lowered pressure-pain thresholds have been demonstrated in adults with Ehlers-Danlos syndrome hypermobility type (EDS-HT), but whether these findings are also present in children is unclear. Therefore, the objectives of the study were to determine whether generalized hyperalgesia is present in children with hypermobility syndrome (HMS)/EDS-HT, explore potential differences in pressure-pain thresholds between children and adults with HMS/EDS-HT, and determine the discriminative value of generalized hyperalgesia. Patients were classified in 1 of 3 groups: HMS/EDS-HT, hypermobile (Beighton score ≥4 of 9), and healthy controls. Descriptive data of age, sex, body mass index, Beighton score, skin laxity, and medication usage were collected. Generalized hyperalgesia was quantified by the average pressure-pain thresholds collected from 12 locations. Confounders collected were pain locations/intensity, fatigue, and psychological distress. Comparisons between children with HMS/EDS-HT and normative values, between children and adults with HMS/EDS-HT, and corrected confounders were analyzed with multivariate analysis of covariance. The discriminative value of generalized hyperalgesia employed to differentiate between HMS/EDS-HT, hypermobility, and controls was quantified with logistic regression. Significantly lower pressure-pain thresholds were found in children with HMS/EDS-HT compared to normative values (range -22.0% to -59.0%; P ≤ 0.05). When applying a threshold of 30.8 N/cm 2 for males and 29.0 N/cm 2 for females, the presence of generalized hyperalgesia discriminated between individuals with HMS/EDS-HT, hypermobility, and healthy controls (odds ratio 6.0). Children and adults with HMS/EDS-HT are characterized by hypermobility, chronic pain, and generalized hyperalgesia. The presence of generalized hyperalgesia may indicate involvement of the central nervous system in the development of chronic pain. © 2016, American College of Rheumatology.

  12. Patellofemoral pain syndrome in female athletes: A review of diagnoses, etiology and treatment options.

    Science.gov (United States)

    Vora, Molly; Curry, Emily; Chipman, Amanda; Matzkin, Elizabeth; Li, Xinning

    2017-12-14

    Patellofemoral pain syndrome (PFPS) is one of the most common causes of knee pain and is present in females disproportionately more relative to males. PFPS causes tend to be multifactorial in nature and are described in this review. From a review of the current literature, it is clear that there needs to be further research on PFPS in order to better understand the complex etiology of this disorder in both males and females. It is known that females with patellofemoral pain syndrome demonstrate a decrease in abduction, external rotation and extension strength of the affected side compared with healthy patients. Conservative management, including optimizing muscle balance between the vastus medialis and lateralis around the patella along with formal therapy should be the first line of treatment in patients presenting with PFPS. Surgery should be reserved for patients in which all conservative management options have failed. This review aims to guide physicians in accurate clinicaldecision making regarding conservative and surgical treatment options when specifically faced with PFPS in a female athlete. Furthermore, we will discuss the anatomic variants, incidence and prevalence, etiology, diagnosis and treatment of PFPS.

  13. Patellofemoral pain syndrome in female athletes: A review of diagnoses, etiology and treatment options

    Science.gov (United States)

    Vora, Molly; Curry, Emily; Chipman, Amanda; Matzkin, Elizabeth; Li, Xinning

    2018-01-01

    Patellofemoral pain syndrome (PFPS) is one of the most common causes of knee pain and is present in females disproportionately more relative to males. PFPS causes tend to be multifactorial in nature and are described in this review. From a review of the current literature, it is clear that there needs to be further research on PFPS in order to better understand the complex etiology of this disorder in both males and females. It is known that females with patellofemoral pain syndrome demonstrate a decrease in abduction, external rotation and extension strength of the affected side compared with healthy patients. Conservative management, including optimizing muscle balance between the vastus medialis and lateralis around the patella along with formal therapy should be the first line of treatment in patients presenting with PFPS. Surgery should be reserved for patients in which all conservative management options have failed. This review aims to guide physicians in accurate clinicaldecision making regarding conservative and surgical treatment options when specifically faced with PFPS in a female athlete. Furthermore, we will discuss the anatomic variants, incidence and prevalence, etiology, diagnosis and treatment of PFPS. PMID:29564075

  14. A case report of secondary Budd-Chiari syndrome due to chronic empyema diagnosed by NMR-CT

    International Nuclear Information System (INIS)

    Takagi, Sayumi; Hattori, Akira; Yamauchi, Masayosi; Kimura, Kazuo; Suzino, Hajime; Sibata, Koji; Watanabe, Reijiro; Kameda, Haruo

    1985-01-01

    A 34-year-old male patient complained of general fatigue, ascites, and edema of the lower extremities. A chest x-ray film showed atelectasis of the right lung and pleural effusion of the right side. Liver ultrasonography revealed stenosis of the middle and right hepatic veins. Venacavography revealed stenosis of the inferior vena cava and collateral circulation. Finally, abdominal NMR-CT clearly visualized lunate stenosis and antero-lateral deviation of the inferior vena cava. He was diagnosed as having secondary Budd-Chiari syndrome resulting from the deviation and stenosis of the inferior vena cava due to distortion of the surrounding tissues by the thickened pleura which was caused by chronic empyema. (Namekawa, K.)

  15. Brazilian dietary patterns and the dietary approaches to stop hypertension (DASH) diet-relationship with metabolic syndrome and newly diagnosed diabetes in the ELSA-Brasil study.

    Science.gov (United States)

    Drehmer, Michele; Odegaard, Andrew O; Schmidt, Maria Inês; Duncan, Bruce B; Cardoso, Letícia de Oliveira; Matos, Sheila M Alvim; Molina, Maria Del Carmen B; Barreto, Sandhi M; Pereira, Mark A

    2017-01-01

    Studies evaluating dietary patterns, including the DASH diet, and their relationship with the metabolic syndrome and diabetes may help to understand the role of dairy products (low fat or full fat) in these conditions. Our aim is to identify dietary patterns in Brazilian adults and compare them with the (DASH) diet quality score in terms of their associations with metabolic syndrome and newly diagnosed diabetes in the Brazilian Longitudinal Study of Adult Health-the ELSA-Brasil study. The ELSA-Brasil is a multicenter cohort study comprising 15,105 civil servants, aged 35-74 years at baseline (2008-2010). Standardized interviews and exams were carried out, including an OGTT. We analyzed baseline data for 10,010 subjects. Dietary patterns were derived by principal component analysis. Multivariable logistic regression investigated associations of dietary patterns with metabolic syndrome and newly diagnosed diabetes and multivariable linear regression with components of metabolic syndrome. After controlling for potential confounders, we observed that greater adherence to the Common Brazilian meal pattern (white rice, beans, beer, processed and fresh meats), was associated with higher frequencies of newly diagnosed diabetes, metabolic syndrome and all of its components, except HDL-C. Participants with greater intake of a Common Brazilian fast foods/full fat dairy/milk based desserts pattern presented less newly diagnosed diabetes. An inverse association was also seen between the DASH Diet pattern and the metabolic syndrome, blood pressure and waist circumference. Diet, light foods and beverages/low fat dairy pattern was associated with more prevalence of both outcomes, and higher fasting glucose, HDL-C, waist circumference (among men) and lower blood pressure. Vegetables/fruit dietary pattern did not protect against metabolic syndrome and newly diagnosed diabetes but was associated with lower waist circumference. The inverse associations found for the dietary pattern

  16. Morbidity and medicine prescriptions in a nationwide Danish population of patients diagnosed with polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Glintborg, Dorte; Hass Rubin, Katrine; Nybo, Mads

    2015-01-01

    OBJECTIVE: The prevalence of type 2 diabetes is increased in polycystic ovary syndrome (PCOS), but the prevalence of other diseases is not clarified. We aimed to investigate morbidity and medicine prescriptions in PCOS. DESIGN: A National Register-based study. METHODS: Patients with PCOS (PCOS...... Denmark and an embedded cohort; PCOS Odense University Hospital (OUH)) and one control population. Premenopausal women with PCOS underwent clinical and biochemical examination (PCOS OUH, n=1217). PCOS Denmark (n=19 199) included women with PCOS in the Danish National Patient Register. Three age......-matched controls were included per patient (n=57 483). MAIN OUTCOME MEASURES: Diagnosis codes and filled prescriptions. RESULTS: The mean (range) age of the PCOS Denmark group and controls was 30.6 (12-60) years. Patients in PCOS Denmark had higher Charlson index, higher prevalence of diabetes, dyslipidemia...

  17. A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant

    OpenAIRE

    Uysalol, Metin; Tatlı, Burak; Uzel, Nedret; Çıtak, Agop; Aygün, Erhan; Kayaoğlu, Semra

    2013-01-01

    Background: Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant. Case Report: Here, we report a 5.5 year-old boy diagnosed early with positive GD1a and GD1b gangliosides of Guillan-Barre syndrome pharyngeal cervical-Brachial variant, who improved and recovered fully in a short period. This is in co...

  18. A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant

    OpenAIRE

    Uysalol, Metin; Tatlı, Burak; Uzel, Nedret; Çıtak, Agop; Aygün, Erhan; Kayaoğlu, Semra

    2014-01-01

    Background: Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant. Case Report: Here, we report a 5.5 year-old boy diagnosed early with positive GD1a and GD1b gangliosides of Guillan-Barre syndrome pharyngeal cervical-Brachial variant, who improved and recovered fully in a short period. This is in cont...

  19. An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing

    Directory of Open Access Journals (Sweden)

    Jinsup Kim

    2017-09-01

    Full Text Available Noonan syndrome (NS is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS. In this case, the patient showed short stature, dysmorphic facial features suggestive of NS, feeding intolerance, cryptorchidism, and intellectual disability in early childhood. At the age of 16, the patient still showed extreme short stature with delayed puberty and characteristic facial features suggestive of NS. Although the patient had no cardiac problems or chest wall deformities, which are commonly present in NS and are major concerns for patients and clinicians, the patient showed several other characteristic clinical features of NS. Considering the possibility of a genetic disorder, including NS, a molecular genetic study with TES was performed. With TES analysis, we detected a pathogenic variant of c.458A > T in KRAS in this patient with atypical NS phenotype and provided appropriate clinical management and genetic counseling. The application of TES enables accurate molecular diagnosis of patients with nonspecific or atypical features in genetic diseases with several responsible genes, such as NS.

  20. Unlikely culprit: congenital middle aortic syndrome diagnosed in the sixth decade of life.

    Science.gov (United States)

    Ali, Muhammad Sajawal; Tchernodrinski, Stefan; Mohananey, Divyanshu; Ali, Ahya Sajawal

    2016-08-16

    A 58-year-old woman was admitted with acute heart failure. She had a long history of resistant hypertension, with an unremarkable work up for secondary causes in the past. Her brachial blood pressure was 210/70 mm Hg, with ankle blood pressure of 100/70 mm Hg. CT angiogram revealed marked narrowing of the descending thoracic aorta between the left subclavian artery and the diaphragm, consistent with middle aortic syndrome (MAS). She was initially managed with diuretics and antihypertensives. Subsequently thoracotomy revealed a severely hypoplastic segment of the descending aorta. The diseased segment was resected and aortic reconstruction performed. Histopathology showed fragmentation of the medial elastic fibres and fibrosis of the medial and intimal layers. These findings along with gross aortic hypoplasia and absence of features of Takayasu's arteritis, suggest that our patient had congenital MAS. The patient has done well since her surgery. We believe this is the first case of congenital MAS reported in the sixth decade of life. 2016 BMJ Publishing Group Ltd.

  1. Diagnosing acute respiratory distress syndrome in resource limited settings: the Kigali modification of the Berlin definition.

    Science.gov (United States)

    Riviello, Elisabeth D; Buregeya, Egide; Twagirumugabe, Theogene

    2017-02-01

    The acute respiratory distress syndrome (ARDS) was re-defined by a panel of experts in Berlin in 2012. Although the Berlin criteria improved upon the validity and reliability of the definition, it did not make diagnosis of ARDS in resource limited settings possible. Mechanical ventilation, arterial blood gas measurements, and chest radiographs are not feasible in many regions of the world. In 2014, we proposed and applied the Kigali modification of the Berlin definition in a hospital in Rwanda. This review synthesizes literature from the last 18 months relevant to the Kigali modification. In the last 18 months, the need for a universally applicable ARDS definition was reinforced by advances in supportive care that can be implemented in resource poor settings. Research demonstrating the variable impact of positive end expiratory pressure on hypoxemia, the validity of using pulse oximetry rather than arterial blood gas to categorize hypoxemia, and the accuracy of lung ultrasound support the use of the Kigali modification of the Berlin definition. Studies directly comparing the Berlin definition to the Kigali modification are needed. Ongoing clinical research on ARDS needs to include low-income countries.

  2. Catastrophic antiphospholipid syndrome: how to diagnose a rare but highly fatal disease

    Science.gov (United States)

    Erkan, Doruk

    2013-01-01

    Antiphospholipid syndrome (APS) is a multisystem autoimmune condition characterized by vascular thromboses and/or pregnancy loss associated with persistently positive antiphospholipid antibodies (aPL). Catastrophic APS (CAPS) is the most severe form of APS with multiple organ involvement developing over a short period of time, usually associated with microthrombosis. ‘Definite’ and ‘probable’ CAPS have been defined based on the preliminary classification criteria; however, in a real-world setting, aPL-positive patients with multiple organ thromboses and/or thrombotic microangiopathies exist who do not fulfill these criteria. Previous APS diagnosis and/or persistent clinically significant aPL positivity is of great importance for the CAPS diagnosis; however, almost half of the patients who develop CAPS do not have a history of aPL positivity. The purpose of this paper is to summarize the diagnostic challenges and the recently updated diagnostic algorithms for CAPS providing a ‘step-by-step’ approach for clinicians (and researchers) in the assessment of patients with multiple organ thromboses. PMID:24294304

  3. Osteosarcopenic Obesity Syndrome: What Is It and How Can It Be Identified and Diagnosed?

    Directory of Open Access Journals (Sweden)

    Jasminka Z. Ilich

    2016-01-01

    Full Text Available Conditions related to body composition and aging, such as osteopenic obesity, sarcopenia/sarcopenic obesity, and the newly termed osteosarcopenic obesity (triad of bone muscle and adipose tissue impairment, are beginning to gain recognition. However there is still a lack of definitive diagnostic criteria for these conditions. Little is known about the long-term impact of these combined conditions of osteoporosis, sarcopenia, and obesity in older adults. Many may go undiagnosed and progress untreated. Therefore, the objective of this research is to create diagnostic criteria for osteosarcopenic obesity in older women. The proposed diagnostic criteria are based on two types of assessments: physical, via body composition measurements, and functional, via physical performance measures. Body composition measurements such as T-scores for bone mineral density, appendicular lean mass for sarcopenia, and percent body fat could all be obtained via dual energy X-ray absorptiometry. Physical performance tests: handgrip strength, one-leg stance, walking speed, and sit-to-stand could be assessed with minimal equipment. A score could then be obtained to measure functional decline in the older adult. For diagnosing osteosarcopenic obesity and other conditions related to bone loss and muscle loss combined with obesity, a combination of measures may more adequately improve the assessment process.

  4. Using the androgen excess-PCOS society criteria to diagnose polycystic ovary syndrome and the risk of metabolic syndrome in adolescents.

    Science.gov (United States)

    Roe, Andrea Hsu; Prochaska, Erica; Smith, Matthew; Sammel, Mary; Dokras, Anuja

    2013-05-01

    To use the Androgen Excess-PCOS Society (AE-PCOS) criteria in adolescents to diagnose polycystic ovary syndrome (PCOS) and identify the prevalence of metabolic risk factors. Retrospective chart review of adolescents (>2 years postmenarche) presenting at a specialty clinic from 2008 through 2010 with complete evaluation for PCOS and metabolic risk were reviewed. Metabolic risk in adolescents with PCOS was compared with those with ≤ 1 AE-PCOS criteria. Of the 205 adolescents evaluated, 66% were found to have PCOS based on the AE-PCOS criteria. The most common presenting symptom was menstrual irregularity, followed by acne, hirsutism, and weight gain. Adolescents with PCOS had a significantly higher prevalence of obesity, hypertension, and low level of high-density lipoprotein cholesterol. Subjects with PCOS had ≥ 1 metabolic risk factor compared with the subjects without PCOS (63.6% vs 33.3%, P = .002). More adolescents with PCOS had ≥ 2 abnormal metabolic risk factors excluding body mass index compared with those without PCOS (P PCOS compared with 1.7% in those without PCOS (P PCOS based on the AE-PCOS criteria are at a significantly increased risk of ≥ 1 metabolic abnormality. Our data underscore the need to accurately diagnose PCOS in the adolescent population instead of delaying the diagnosis to adulthood. Further, using similar criteria for the diagnosis of PCOS in adolescents (>2 years postmenarche) and adults will be more convenient for the clinician. Copyright © 2013 Mosby, Inc. All rights reserved.

  5. Improved Diagnoses and Quantification of Fusarium virguliforme, Causal Agent of Soybean Sudden Death Syndrome.

    Science.gov (United States)

    Wang, Jie; Jacobs, Janette L; Byrne, Jan M; Chilvers, Martin I

    2015-03-01

    Fusarium virguliforme (syn. F. solani f. sp. glycines) is the primary causal pathogen responsible for soybean sudden death syndrome (SDS) in North America. Diagnosis of SDS is difficult because symptoms can be inconsistent or similar to several soybean diseases and disorders. Additionally, quantification and identification of F. virguliforme by traditional dilution plating of soil or ground plant tissue is problematic due to the slow growth rate and plastic morphology of F. virguliforme. Although several real-time quantitative polymerase chain reaction (qPCR)-based assays have been developed for F. virguliforme, the performance of those assays does not allow for accurate quantification of F. virguliforme due to the reclassification of the F. solani species complex. In this study, we developed a TaqMan qPCR assay based on the ribosomal DNA (rDNA) intergenic spacer (IGS) region of F. virguliforme. Specificity of the assay was demonstrated by challenging it with genomic DNA of closely related Fusarium spp. and commonly encountered soilborne fungal pathogens. The detection limit of this assay was determined to be 100 fg of pure F. virguliforme genomic DNA or 100 macroconidia in 0.5 g of soil. An exogenous control was multiplexed with the assay to evaluate for PCR inhibition. Target locus copy number variation had minimal impact, with a range of rDNA copy number from 138 to 233 copies per haploid genome, resulting in a minor variation of up to 0.76 cycle threshold values between strains. The qPCR assay is transferable across platforms, as validated on the primary real-time PCR platform used in the Northcentral region of the National Plant Diagnostic Network. A conventional PCR assay for F. virguliforme detection was also developed and validated for use in situations where qPCR is not possible.

  6. A descriptive retrospective study on children with newly diagnosed nephrotic syndrome presented to Tripoli Children Hospital during the period between Jan. to Dec. 2014

    Directory of Open Access Journals (Sweden)

    Naziha Ramadan Rhuma

    2016-10-01

    Full Text Available Introduction: Nephrotic syndrome is a clinical picture characterized by severe proteinuria, hypoalbuminemia, edema and hypercholesterolemia. A retrospective study was carried out in order to describe disease pattern in newly diagnosed nephrotic syndrome of children admitted to Tripoli children hospital during the year 2014. Methods: The medical data of 56 patients aged between 1 year and 11 years diagnosed with idiopathic nephrotic syndrome were analysed using SPSS software. The data included gender differences, sensitivity to steroid therapy, relapses during six months of follow up and the effect of variable factors such as family history, hypertension, hematuria, serum urea on the degree of relapse. Results: Out of 56 patients with newly diagnosed nephrotic syndrome (NS, 60.7% were boys and 39.3% were girls, with a mean age 4.2±2.2 years. Age  was related significantly to the response to steroid therapy, where 79.5% of patients aged between 2-8 years (group 1 had steroid sensitive nephrotic syndrome (SSNS compared with only 41.7% of patients aged less than 2 years or more than 8 years (group 2  (P<0.001.  Although girls relapsed more than boys (70.5% versus 57.1% during six months of therapy, this difference was not statistically significant. Similarly, no other factors measured such as family history of NS, hypertension, hematuria, serum complement and urea had any effect on the percentage of relapse in patients with newly diagnosed NS.  Conclusion: NS is one of the commonest reasons for admission to nephrology ward. It is more common in boys than girls. The age at presentation related significantly to the response to steroidal therapy. Regarding relapses, girls seems to relapse more frequent than boys and relapses was seen more in age group 1 than group 2, however, these differences were not significant. Other factors studied seems to have no effect on the relapse rate of children with newly diagnosed NS. Key-words:  Idiopathic

  7. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

    Science.gov (United States)

    Weerakkody, Ruwan A; Vandrovcova, Jana; Kanonidou, Christina; Mueller, Michael; Gampawar, Piyush; Ibrahim, Yousef; Norsworthy, Penny; Biggs, Jennifer; Abdullah, Abdulshakur; Ross, David; Black, Holly A; Ferguson, David; Cheshire, Nicholas J; Kazkaz, Hanadi; Grahame, Rodney; Ghali, Neeti; Vandersteen, Anthony; Pope, F Michael; Aitman, Timothy J

    2016-11-01

    Ehlers-Danlos syndrome (EDS) comprises a group of overlapping hereditary disorders of connective tissue with significant morbidity and mortality, including major vascular complications. We sought to identify the diagnostic utility of a next-generation sequencing (NGS) panel in a mixed EDS cohort. We developed and applied PCR-based NGS assays for targeted, unbiased sequencing of 12 collagen and aortopathy genes to a cohort of 177 unrelated EDS patients. Variants were scored blind to previous genetic testing and then compared with results of previous Sanger sequencing. Twenty-eight pathogenic variants in COL5A1/2, COL3A1, FBN1, and COL1A1 and four likely pathogenic variants in COL1A1, TGFBR1/2, and SMAD3 were identified by the NGS assays. These included all previously detected single-nucleotide and other short pathogenic variants in these genes, and seven newly detected pathogenic or likely pathogenic variants leading to clinically significant diagnostic revisions. Twenty-two variants of uncertain significance were identified, seven of which were in aortopathy genes and required clinical follow-up. Unbiased NGS-based sequencing made new molecular diagnoses outside the expected EDS genotype-phenotype relationship and identified previously undetected clinically actionable variants in aortopathy susceptibility genes. These data may be of value in guiding future clinical pathways for genetic diagnosis in EDS.Genet Med 18 11, 1119-1127.

  8. PAS positivity of erythroid precursor cells is associated with a poor prognosis in newly diagnosed myelodysplastic syndrome patients.

    Science.gov (United States)

    Masuda, Kenta; Shiga, Shuichi; Kawabata, Hiroshi; Takaori-Kondo, Akifumi; Ichiyama, Satoshi; Kamikubo, Yasuhiko

    2018-07-01

    Myelodysplastic syndrome (MDS) is a group of clonal stem cell disorders characterized by hematopoietic insufficiency. The accurate risk stratification of patients with MDS is essential for selection of appropriate therapies. We herein conducted a retrospective cohort study to examine the prognostic value of periodic acid-Schiff (PAS) reaction-positive erythroblasts in MDS patients. We examined the PAS positivity of the bone marrow erythroblasts of 144 patients newly diagnosed with MDS; 26 (18.1%) of them had PAS-positive erythroblasts, whereas 118 (81.9%) did not. The PAS-positive group showed significantly poorer karyotypes as defined in the revised International Prognostic Scoring System (IPSS-R) and higher scores in age-adjusted IPSS-R (IPSS-RA) than the PAS-negative group. Overall survival (OS) and leukemia-free survival (LFS) were also significantly shorter in the PAS-positive group than in the PAS-negative group. Similar results were obtained when only high- and very high risk groups were analyzed using IPSS-RA. This retrospective study suggested that the PAS positivity of erythroblasts is an additional prognostic factor combined with other risk scores for OS and LFS in MDS, and our results may contribute to improved clinical decision-making and rapid risk stratification.

  9. Screening non-classical 21-hydroxylase gene deficiency from patients diagnosed as polycystic ovary syndrome by gene assay

    Directory of Open Access Journals (Sweden)

    Jie HU

    2016-04-01

    Full Text Available Objective  To screen non-classical 21-hydroxylase deficiency (NC-21OHD from patients diagnosed as polycystic ovary syndrome (PCOS by gene assay. Methods  Ninety-eight patients with PCOS were enrolled according to 2003 Rotterdam criteria from Department of Endocrinology, Tangdu Hospital of Fourth Military Medical University, and they were divided into three groups according to the modified Ferriman-Gallway (mF-G score as follows: group A with score 0-2; group B with score 3-5, and group C with score ≥6. Meanwhile, 30 healthy subjects from the Medical Center of the Hospital were recruited as control group. Peripheral blood of all subjects were collected for extracting DNA, the CYP21A2 gene were amplified by 5 pairs of specific primers, and then the PCR products were sequenced by Shanghai Sangon Co. The subjects would accept test for serum cortisol and adrenocorticotropic hormone (ACTH at 8:00am if their CYP21A2 was proved to be abnormal. Results  Thirty subjects of control group had no any defects in CYP21A2, but 5 of 98 patients with PCOS were proved to be deficient in CYP21A2, and the genotypes were V281L/920-921insT (P1, V281L/I230M (P2, V281L/Normal (P3, P4, P5, respectively, and all of them were heterozygous mutations. The incidences of NC-21OHD in group C and B were 28.6% and 3.3%, respectively. Genotype P1 had been identified to belong to NC-21OHD, which was consistent with its clinical phenotype. All genotypes P3, P4 and P5 belonged to carriers. But for P2, since I230M hadn't been reported in literature, the patient with V281L/I230M couldn't be classified now. Serum biochemical results showed that only in P1 the cortisol was close to the normal lower level, and ACTH was close to the normal upper limit of the reported level in the literature, and the remainders were all normal. Conclusions  Although PCOS and NC-21OHD are very similar in clinical manifestations, they are different completely in the pathogenesis and treatment. So it

  10. Applied cognitive behavioral analysis as an effective tool for the development of communication skills and problem solving behavior in adolescents diagnosed with Asperger Syndrome

    OpenAIRE

    Spilka, Ivo

    2013-01-01

    This Rigorosum Thesis work puts mind to questions how to effectively work with adolescents they were diagnosed with Aspereger's Syndrome. Based on author-led concrete development project, it proves the high efficiency of cognitive behavior techniques for the social learning and the training and improvement of communication skills or additionally for problem behavior solving. Together with those frequently used tools it shows other opportunities how to raise efficiency - especially of Kaizen p...

  11. 'A one-sided affair': unilateral pulmonary oedema and the role of cardiac MRI in diagnosing premature coronary artery disease in a patient with Prader-Willi syndrome.

    Science.gov (United States)

    Jabbar, Avais; Khan, Jamal N; Singh, Anvesha; McCann, Gerry P

    2013-05-22

    There is no formal association between premature coronary artery disease (CAD) and Prader-Willi syndrome despite its association with hyperlipidaemia, diabetes mellitus and hypertension. A 36-year-old man with Prader-Willi syndrome presented with acute breathlessness. Inflammatory markers were borderline elevated and chest radiography demonstrated unilateral diffuse alveolar shadowing. Bronchopneumonia was diagnosed and despite treatment with multiple courses of antimicrobial therapy, there was minimal symptomatic and radiographical improvement. A diagnosis of unilateral pulmonary oedema was suspected. Echocardiography was non-diagnostic due to body habitus and coronary angiography was deemed inappropriate due to uncertainty in diagnosis, invasiveness and pre-existing chronic kidney disease. Therefore, cardiac magnetic resonance was performed, confirming severe triple-vessel CAD. This case demonstrates a presentation of heart failure with unilateral chest radiograph changes in a young patient with Prader-Willi syndrome and severe premature CAD detected by multiparametric cardiac magnetic resonance imaging.

  12. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

    Science.gov (United States)

    Bramswig, Nuria C; Lüdecke, Hermann-Josef; Alanay, Yasemin; Albrecht, Beate; Barthelmie, Alexander; Boduroglu, Koray; Braunholz, Diana; Caliebe, Almuth; Chrzanowska, Krystyna H; Czeschik, Johanna Christina; Endele, Sabine; Graf, Elisabeth; Guillén-Navarro, Encarna; Kiper, Pelin Özlem Simsek; López-González, Vanesa; Parenti, Ilaria; Pozojevic, Jelena; Utine, Gulen Eda; Wieland, Thomas; Kaiser, Frank J; Wollnik, Bernd; Strom, Tim M; Wieczorek, Dagmar

    2015-06-01

    Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. However, there are a number of patients with the clinical diagnosis of CSS or NCBRS in whom the causative mutation has not been identified. In this study, we performed trio-based whole-exome sequencing (WES) in ten previously described but unsolved individuals with the tentative diagnosis of CSS or NCBRS and found causative mutations in nine out of ten individuals. Interestingly, our WES analysis disclosed overlapping differential diagnoses including Wiedemann-Steiner, Kabuki, and Adams-Oliver syndromes. In addition, most likely causative de novo mutations were identified in GRIN2A and SHANK3. Moreover, trio-based WES detected SMARCA2 and SMARCA4 deletions, which had not been annotated in a previous Haloplex target enrichment and next-generation sequencing of known CSS/NCBRS genes emphasizing the advantages of WES as a diagnostic tool. In summary, we discuss the phenotypic and diagnostic challenges in clinical genetics, establish important differential diagnoses, and emphasize the cardinal features and the broad clinical spectrum of BAF complex disorders and other disorders caused by mutations in epigenetic landscapers.

  13. First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

    DEFF Research Database (Denmark)

    Støve, Heidi Kristine; Becher, Naja; Gjørup, Vibike

    2017-01-01

    Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. We present the first case of a severely affected female fetus with stigmata...

  14. The Evidence-Based Rationale for Physical Therapy Treatment of Children, Adolescents, and Adults Diagnosed With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome

    NARCIS (Netherlands)

    Engelbert, Raoul H. H.; Juul-Kristensen, Birgit; Pacey, Verity; de Wandele, Inge; Smeenk, Sandy; Woinarosky, Nicoleta; Sabo, Stephanie; Scheper, Mark C.; Russek, Leslie; Simmonds, Jane V.

    2017-01-01

    New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management

  15. Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

    Science.gov (United States)

    Neuhaus, Christine; Eisenberger, Tobias; Decker, Christian; Nagl, Sandra; Blank, Cornelia; Pfister, Markus; Kennerknecht, Ingo; Müller-Hofstede, Cornelie; Charbel Issa, Peter; Heller, Raoul; Beck, Bodo; Rüther, Klaus; Mitter, Diana; Rohrschneider, Klaus; Steinhauer, Ute; Korbmacher, Heike M; Huhle, Dagmar; Elsayed, Solaf M; Taha, Hesham M; Baig, Shahid M; Stöhr, Heidi; Preising, Markus; Markus, Susanne; Moeller, Fabian; Lorenz, Birgit; Nagel-Wolfrum, Kerstin; Khan, Arif O; Bolz, Hanno J

    2017-09-01

    Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one tool for detecting point mutations and CNVs. CNVs accounted for 10% of identified USH2A alleles, often in trans to seemingly monoallelic point mutations. We demonstrate PTC124-induced read-through of the common p.Trp3955* nonsense mutation (13% of detected USH2A alleles), a potential therapy target. Usher gene mutations were found in most patients with atypical Usher syndrome, but the diagnosis was adjusted in case of double homozygosity for mutations in OTOA and NR2E3 , genes implicated in isolated deafness and RP. Two patients with additional enamel dysplasia had biallelic PEX26 mutations, for the first time linking this gene to Heimler syndrome. Targeted NGS not restricted to Usher genes proved beneficial in uncovering conditions mimicking Usher syndrome.

  16. Esophageal achalasia compressing left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome.

    Science.gov (United States)

    Park, Man Je; Song, Bong Gun; Lee, Hyoun Soo; Kim, Ki Hoon; Ok, Hea Sung; Kim, Byeong Ki; Park, Yong Hwan; Kang, Gu Hyun; Chun, Woo Jung; Oh, Ju Hyeon

    2012-01-01

    Extrinsic compression of the left atrium by the esophagus, the stomach, or both is an uncommon but important cause of hemodynamic compromise. Achalasia is a motility disorder characterized by impaired relaxation of the lower esophageal sphincter and dilatation of the distal two thirds of the esophagus. Echocardiographic imaging after oral ingestion of liquid containing carbon dioxide allowed for differentiation between a compressive vascular structure and the esophagus. We report a rare case of esophageal achalasia compressing the left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome. Copyright © 2012 Elsevier Inc. All rights reserved.

  17. A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

    Science.gov (United States)

    Tzoufi, Meropi; Makis, Alexandros; Chaliasos, Nikolaos; Nakou, Iliada; Siomou, Ekaterini; Tsatsoulis, Agathoklis; Zikou, Anastasia; Argyropoulou, Maria; Bonnefont, Jean Paul; Siamopoulou, Antigone

    2013-04-01

    Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.

  18. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome

    DEFF Research Database (Denmark)

    Engelbert, Raoul H; Juul-Kristensen, Birgit; Pacey, Verity

    2017-01-01

    New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in managem......New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role...... in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment...

  19. Prevalence and Clinical Characteristics of the Restless Legs Syndrome (RLS in Patients Diagnosed with Attention Deficit Hyperactivity Disorder (ADHD in Antioquia

    Directory of Open Access Journals (Sweden)

    Ana Carolina Sierra Montoya

    2018-02-01

    Full Text Available Introduction: Attention Deficit Hyperactivity Disorder (ADHD is the most common behavioral issue for children. One of the sleeping disorders most frequently related to ADHD is the Restless Legs Syndrome (RLS, characterized by an irresistible urge to move the legs, something that is generally associated with paresthesias and motor restlessness. The prevalence rate of RLS in children diagnosed with ADHD is close to 18%, but in Colombia, these cases have been hardly studied. Objective: To determine the frequency of RLS, in children with ADHD. Methods: A cross-sectional study, filled out by parents of children diagnosed with ADHD, were analyzed. This questionnaire contained clinical criteria for classifying ADHD according to the DSM-IV, as well as diagnostic criteria for RLS by the National Institutes of Health (2003. Results: A predominance rate of 65.6% in combined ADHD was observed in children with RLS criteria. Upon carrying out an exploratory data analysis, it was found that having a family history of RLS and belonging to the middle or low socioeconomic strata are conditions associated with the presence of RLS in children with ADHD, with a significant p (p < 0.000 and a PR of 4.47 (3.16-6.32. Conclusions: The prevalence of RLS was similar to the findings of other clinical investigations. However, it highlights new prevalence values in relation to the comorbidity between ADHD and RLS, suggesting the need for new clinical and therapeutic alternatives amidst the presence of both syndromes.

  20. Indicators for metabolic disturbances in anovulatory women with polycystic ovary syndrome diagnosed according to the Rotterdam consensus criteria

    NARCIS (Netherlands)

    Goverde, A. J.; van Koert, A. J. B.; Eijkemans, M. J.; Knauff, E. A. H.; Westerveld, H. E.; Fauser, B. C. J. M.; Broekmans, F. J.

    Polycystic ovary syndrome (PCOS) is associated with metabolic abnormalities. It is debated whether all women with PCOS should be screened for metabolic abnormalities as these may vary with PCOS phenotype, age and ethnicity. The aims of this study were to assess the prevalence of metabolic

  1. Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist's initiative.

    NARCIS (Netherlands)

    Landsbergen, K.M.; Prins, J.B.; Brunner, H.G.; Duijvendijk, P. van; Nagengast, F.M.; Krieken, J.H.J.M. van; Ligtenberg, M.J.; Hoogerbrugge-van der Linden, N.

    2012-01-01

    According to the Dutch Guideline on Hereditary Colorectal Cancer published in 2008, patients with recently diagnosed colorectal cancer (CRC) should undergo microsatellite instability (MSI) testing by a pathologist immediately after tumour resection if they are younger than 50 years, or if a second

  2. High Efficiency of Human Normal Immunoglobulin for Intravenous Administration in a Patient with Kawasaki Syndrome Diagnosed in the Later Stages

    Directory of Open Access Journals (Sweden)

    Tatyana V. Sleptsova

    2016-01-01

    Full Text Available The article describes a case of late diagnosis of mucocutaneous lymphonodular syndrome (Kawasaki syndrome. At the beginning of the therapy, the child had fever, conjunctivitis, stomatitis, rash, solid swelling of hands and feet, and coronaritis with the development of aneurysms. The article describes the successful use of normal human immunoglobulin for intravenous administration at a dose of 2 g/kg body weight per course in combination with acetylsalicylic acid at the dose of 80 mg/kg per day. After 3 days of treatment, the rash disappeared; limb swelling and symptoms of conjunctivitis significantly reduced; and laboratory parameters of disease activity became normal (erythrocyte sedimentation rate, C-reactive protein concentration. After 3 months, inflammation in the coronary arteries was stopped. After 6 months, a regression of coronary artery aneurysms was recorded. No adverse effects during the immunoglobulin therapy were observed.

  3. A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Görker I

    2016-12-01

    Full Text Available Phelan McDermid Syndrome (PHMDS (OMIM #606232, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230 cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD. Our findings were a clinically mild intellectual disability, rounded face, pointed chin but no autistic findings. We learned that her neuromotor development was delayed and she had neonatal hypotonia in her history. A heterozygous deletion of MLC1, SBF1, MAPK8IP2, ARSA, SHANK3 and ACR genes, located on 22q13.33, was defined by multiplex ligation-dependent probe amplification (MLPA. Deletion of 22q13.3 (ARSA region was confirmed by a fluorescent in situ hybridization (FISH technique. The 22q13.3 deletion was found to be de novo in our patient, and she was diagnosed with PHMDS. We confirmed the 22q13.3 deletion and also determined a gain of 8p23.3-23.2 by array comparative genomic hybridization (aCGH. Fluorescent in situ hybridization was performed to determine whether the deletion was of parental origin and to identify regions of chromosomes where the extra 8p may have been located. The parents were found to be normal. The extra copy of 8p was observed on 22q in the patient. She is the first case reported in association with the 22q deletion of 8p duplications in the literature.

  4. Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses

    Directory of Open Access Journals (Sweden)

    Stephanie S. L. Cheung

    2017-01-01

    Full Text Available A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM as the cause of her progressive muscle weakness. Although rare, external ophthalmoplegia has been described in the literature as a presenting symptom in SLONM. To elucidate the pathological mechanism for the patient’s diplopia, an MRI of the orbits was performed, which revealed findings consistent with SES. This case aims to highlight the importance of integrating clinical findings during the diagnostic process and serves as a reminder that diplopia can be a common symptom for an uncommon diagnosis.

  5. Fibrous dysplasia and McCune–Albright syndrome: Imaging for positive and differential diagnoses, prognosis, and follow-up guidelines

    International Nuclear Information System (INIS)

    Bousson, Valérie; Rey-Jouvin, Caroline; Laredo, Jean-Denis; Le Merrer, Martine; Martin-Duverneuil, Nadine

    2014-01-01

    Highlights: • The radiologist plays a critical role at all steps of the management of patients with fibrous dysplasia (FD) and McCune–Albright syndrome (MAS). • Specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. • We believe the dissemination of these recommendations within the radiology community may substantially improve the management of patients with these rare but potentially disabling conditions. - Abstract: Purpose: The radiologist plays a critical role at all steps of the management of patients with fibrous dysplasia (FD) and McCune–Albright syndrome (MAS). The development of a standardized approach to the management of FD/MAS is crucial given the low incidence and multiple clinical presentations of these conditions. Our aim was to develop recommendations for bone imaging in FD/MAS management. Materials and methods: The establishment of National Reference Centers in France as part of a Health Ministry program for orphan diseases has triggered the development of recommendations for the clinical management of FD/MAS. We used a well-established robust methodological approach involving an extensive literature review by a multidisciplinary working group (20 healthcare professionals) and scoring by a peer-review group (20 healthcare professionals different from the 20 previous ones). There were four phases: a systematic literature review, drafting of initial recommendations, peer-review of this initial draft, and drafting of the final recommendations. Results: Fifty-seven specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. Issues of special interest are highlighted in the discussion, and areas in which future research is needed are identified. Conclusion: We believe the dissemination of these recommendations within the radiology community may facilitate communication between radiologists and other healthcare

  6. Fibrous dysplasia and McCune–Albright syndrome: Imaging for positive and differential diagnoses, prognosis, and follow-up guidelines

    Energy Technology Data Exchange (ETDEWEB)

    Bousson, Valérie, E-mail: valerie.bousson@lrb.aphp.fr [Radiologie Ostéo-Articulaire, AP-HP, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010 Paris (France); Université Paris VII Denis Diderot, Sorbonne Paris Cité (France); Rey-Jouvin, Caroline, E-mail: c.reyjouvin@gmail.com [Rhumatologie Viggo Petersen, AP-HP, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010 Paris (France); Université Paris VII Denis Diderot, Sorbonne Paris Cité (France); Laredo, Jean-Denis, E-mail: jean-denis.laredo@lrb.aphp.fr [Radiologie Ostéo-Articulaire, AP-HP, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010 Paris (France); Université Paris VII Denis Diderot, Sorbonne Paris Cité (France); Le Merrer, Martine, E-mail: martine.lemerrer@inserm.fr [Service de génétique médicale, AP-HP, Hôpital Necker – Enfants malades, 149 rue de Sèvres, 75743 Paris Cedex 15 (France); Martin-Duverneuil, Nadine, E-mail: nadine.martin-duverneuil@psl.aphp.fr [Service de Neuroradiologie, AP-HP, Hôpital Pitié Salpêtrière, 47 Boulevard de l’hôpital, 75013 Paris (France); and others

    2014-10-15

    Highlights: • The radiologist plays a critical role at all steps of the management of patients with fibrous dysplasia (FD) and McCune–Albright syndrome (MAS). • Specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. • We believe the dissemination of these recommendations within the radiology community may substantially improve the management of patients with these rare but potentially disabling conditions. - Abstract: Purpose: The radiologist plays a critical role at all steps of the management of patients with fibrous dysplasia (FD) and McCune–Albright syndrome (MAS). The development of a standardized approach to the management of FD/MAS is crucial given the low incidence and multiple clinical presentations of these conditions. Our aim was to develop recommendations for bone imaging in FD/MAS management. Materials and methods: The establishment of National Reference Centers in France as part of a Health Ministry program for orphan diseases has triggered the development of recommendations for the clinical management of FD/MAS. We used a well-established robust methodological approach involving an extensive literature review by a multidisciplinary working group (20 healthcare professionals) and scoring by a peer-review group (20 healthcare professionals different from the 20 previous ones). There were four phases: a systematic literature review, drafting of initial recommendations, peer-review of this initial draft, and drafting of the final recommendations. Results: Fifty-seven specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. Issues of special interest are highlighted in the discussion, and areas in which future research is needed are identified. Conclusion: We believe the dissemination of these recommendations within the radiology community may facilitate communication between radiologists and other healthcare

  7. Unilateral uveitis masquerade syndrome caused by diffuse large B-cell lymphoma diagnosed using multiparametric flow cytometry of the aqueous humor.

    Science.gov (United States)

    Monsalvo, Silvia; Serrano, Cristina; Prieto, Elena; Fernández-Sanz, Guillermo; Puente, Maria-Camino; Rodriguez-Pinilla, Maria; Garcia Raso, Aranzazu; Llamas, Pilar; Cordoba, Raul

    2017-07-01

    The uveitis masquerade syndromes (UMS) are a group of ocular diseases that may mimic chronic intraocular inflammation. Many malignant entities such as non-Hodgkin's lymphomas may masquerade as uveitis. We report a case of an HIV-positive patient with masquerade syndrome presenting unilateral uveitis. 45-year-old Caucasian man with a diagnosis of diffuse large B-cell lymphoma (DLBCL). The patient was diagnosed by a biopsy of an abdominal mass which showed fragments of gastric mucosa with diffuse growth of neoplastic cells. At diagnosis, the patient suffered from unilateral blurring of vision and a sudden decrease of left-eye visual acuity. A slit-lamp examination of the left eye revealed a diagnosis of anterior uveitis. The patient exhibited no signs of posterior uveitis. An anterior-chamber paracentesis was performed and analyzed by multiparameter flow cytometry (MFC), showing cells CD45, CD19, CD20, CD22, and CD38 positives, and moderate expression of CD10 with kappa light chain restriction, showing a monoclonal B-cell population. The patient received CHOP-R with intrathecal methotrexate followed by consolidation high dose methotrexate obtaining a complete response which is ongoing. Differential diagnosis between chronic uveitis and ocular lymphoma may be challenging. We advocate anterior-chamber paracentesis in cases of refractory uveitis in patients with hematologic malignancies. © 2016 International Clinical Cytometry Society. © 2016 International Clinical Cytometry Society.

  8. Multimodal Chiropractic Care for Pain and Disability in a Patient Diagnosed With Ehlers-Danlos Syndrome-Hypermobility Type: A Case Report.

    Science.gov (United States)

    Strunk, Richard G

    2017-06-01

    The purpose of this article is to describe the clinical response to multimodal chiropractic treatment of a patient diagnosed with Ehlers-Danlos syndrome, hypermobility type (EDS-HT), and chronic pain. A 22-year-old woman presented with severe chronic neck and low back pain, headaches, and bilateral hand pain and stiffness. In addition to these pain complaints, the patient had a family history of EDS, weekly or daily recurring joint dislocations, and upper and lower extremity joint hypermobility. As a result of her significant history and examination findings, which met the Brighton and Villefranche criteria, she was diagnosed with EDS-HT. Treatment primarily consisted of low force joint manipulative therapy and soft tissue therapy intermittently over 21 months concurrently with conventional and complementary medical care. Multiple outcome questionnaires were administered pragmatically at follow-up intervals of 3, 5½, 8½, 19, and 21 months, including but not limited to the Headache and Neck Disability Indices and the Oswestry Low Back Questionnaire. The patient had clinically meaningful improvements on the Neck Disability Index, the Headache Disability Index, and the Revised Oswestry after 3, 5½, 8½, and 21 months from baseline. This patient with EDS-HT had clinically meaningful decreases in disability, headache, and spine pain after a course of multimodal chiropractic care combined with conventional and complementary medical care.

  9. Getting Diagnosed

    Science.gov (United States)

    ... heart rhythm. An eye examination , including a “slit lamp” evaluation to see if the lenses in your ... is Marfan Syndrome? If you suspect Marfan syndrome Day-to-Day CALL OUR HELP CENTER: 800-8- ...

  10. Has 4D transperineal ultrasound additional value over 2D transperineal ultrasound for diagnosing obstructed defaecation syndrome?

    Science.gov (United States)

    van Gruting, I M A; Kluivers, K; Sultan, A H; De Bin, R; Stankiewicz, A; Blake, H; Thakar, R

    2018-06-08

    To establish the diagnostic test accuracy of both two-dimensional (2D) and four-dimensional (4D) transperineal ultrasound, to assess if 4D ultrasound imaging provides additional value in the diagnosis of posterior pelvic floor disorders in women with obstructed defaecation syndrome. In this prospective cohort study, 121 consecutive women with obstructed defaecation syndrome were recruited. Symptoms of obstructed defaecation and signs of pelvic organ prolapse were assessed using validated methods. All women underwent both 2D transperineal ultrasound (Pro-focus, 8802 transducer, BK-medical) and 4D transperineal ultrasound (Voluson i, RAB4-8-RS transducer, GE). Imaging analysis was performed by two blinded observers. Pelvic floor disorders were dichotomised into presence or absence according pre-defined cut-off values. In the absence of a reference standard a composite reference standard was created from a combination of results of evacuation proctogram, magnetic resonance imaging and endovaginal ultrasound. Primary outcome measures were diagnostic test characteristics of 2D and 4D transperineal ultrasound for diagnosis or rectocele, enterocele, intussusception and anismus. Secondary outcome measures were interobserver agreement, agreement between the two techniques and correlation of signs and symptoms to imaging findings. For diagnosis of all four posterior pelvic floor disorders there was no difference in sensitivity and specificity between 2D and 4D TPUS (p= 0.131 - 1.000). A good agreement between 2D and 4D TPUS was found for the diagnosis of rectocele (ĸ 0.675) and a moderate agreement for diagnosis of enterocele, intussusception and anismus (ĸ 0.465 - 0.545). There was no difference in rectocele depth measurements between both TPUS techniques (19.9 mm vs 19.0 mm, p=0.802). Inter-observer agreement was comparable for both techniques, however 2D TPUS had an excellent interobserver agreement for diagnosis of enterocele and rectocele depth measurements. Diagnosis

  11. A Retrospective, Longitudinal, Claims-Based Comparison of Concomitant Diagnoses Between Individuals with and Without Down Syndrome.

    Science.gov (United States)

    Kong, Amanda M; Hurley, Dana; Evans, Kristin A; Brixner, Diana; Csoboth, Csilla; Visootsak, Jeannie

    2017-07-01

    Individuals with Down syndrome (DS) experience various comorbidities in excess of the prevalence seen among the non-DS population. However, the extent of the excess burden of comorbidities specifically within commercially and publicly insured DS populations aged Company, receives payment from Genentech to conduct research, including the research for this study. Truven Health Analytics also receives payment from other pharmaceutical companies to conduct research. Kong and Evans are employed by Truven Health Analytics. Csoboth is employed by Genentech. Brixner reports fees paid to the University of Utah by Truven Health Analytics on her behalf for work related to this study. Hurley reports fees from Genentech for work on this study and for work outside of this study. At the time of this study, Visootsak was employed by F. Hoffman-LaRoche Pharmaceuticals, parent company of Genentech. All authors, including those affiliated with the study sponsor, were involved in the design of the study, interpretation of the data, writing of the manuscript, and the decision to submit the manuscript for publication. Study concept and design were contributed by Kong, Hurley, and Brixner, along with Evans. Kong and Evans collected the data, and data interpretation was performed by Csoboth, Visootsak, Brixner, and Hurley, with assistance from Kong. The manuscript was written by Evans, Kong, Hurley, and Brixner and revised by Kong, Hurley, Evans, and Brixner, with assistance from Csoboth and Visootsak.

  12. Novel Signs and Their Clinical Utility in Diagnosing Complex Regional Pain Syndrome (CRPS): A Prospective Observational Cohort Study.

    Science.gov (United States)

    Kuttikat, Anoop; Shaikh, Maliha; Oomatia, Amin; Parker, Richard; Shenker, Nicholas

    2017-06-01

    Delays in diagnosis occur with complex regional pain syndrome (CRPS). We define and prospectively demonstrate that novel bedside tests measuring body perception disruption can identify patients with CRPS postfracture. The objectives of our study were to define and validate 4 bedside tests, to identify the prevalence of positive tests in patients with CRPS and other chronic pain conditions, and to assess the clinical utility (sensitivity, specificity, positive predictive value, negative predictive value) for identifying CRPS within a Fracture cohort. This was a single UK teaching hospital prospective cohort study with 313 recruits from pain-free volunteers and patients with chronic pain conditions.Four novel tests were Finger Perception (FP), Hand Laterality identification (HL), Astereognosis (AS), and Body Scheme (BS) report. Five questionnaires (Brief Pain Inventory, Upper Extremity Functional Index, Lower Extremity Functional Index, Neglect-like Symptom Questionnaire, Hospital Anxiety and Depression Score) assessed the multidimensional pain experience. FP and BS were the best performing tests. Prospective monitoring of fracture patients showed that out of 7 fracture patients (total n=47) who had both finger misperception and abnormal BS report at initial testing, 3 developed persistent pain with 1 having a formal diagnosis of CRPS. Novel signs are reliable, easy to perform, and present in chronic pain patients. FP and BS have significant clinical utility in predicting persistent pain in a fracture group thereby allowing targeted early intervention.

  13. Effects of probiotic type, dose and treatment duration on irritable bowel syndrome diagnosed by Rome III criteria: a meta-analysis.

    Science.gov (United States)

    Zhang, Yan; Li, Lixiang; Guo, Chuanguo; Mu, Dan; Feng, Bingcheng; Zuo, Xiuli; Li, Yanqing

    2016-06-13

    Irritable bowel syndrome (IBS) is one of the most common functional gastroenterological diseases, affecting 11.2 % of people worldwide. Previous studies have shown that probiotic treatment may benefit IBS patients. However, the effect of probiotics and the appropriate type, dose, and treatment duration for IBS are still unclear. The aim of the current study was to assess the efficacy of different probiotic types, doses and treatment durations in IBS patients diagnosed by Rome III criteria via a meta-analysis of randomized controlled trials (RCTs). Medline, EMBASE, and the Cochrane Central Register of Controlled Trials up to October 2015 were searched. RCTs including comparisons between the effects of probiotics and placebo on IBS patients diagnosed by Rome III criteria were eligible. Dichotomous data were pooled to obtain the relative risk (RR) with a 95 % confidence interval (CI), whereas continuous data were pooled using a standardized mean difference (SMD) with a 95 % CI. Twenty-one RCTs were included in this meta-analysis. Probiotic therapy was associated with more improvement than placebo administration in overall symptom response (RR: 1.82, 95 % CI 1.27 to 2.60) and quality of life (QoL) (SMD: 0.29, 95 % CI 0.08 to 0.50), but not in individual IBS symptoms. Single probiotics, a low dose, and a short treatment duration were more effective with respect to overall symptom response and QoL. No differences were detected in individual IBS symptoms in the subgroup analyses. Probiotics are an effective pharmacological therapy in IBS patients. Single probiotics at a low dose and with a short treatment duration appear to be more effective in improving overall symptom response and QoL, but more evidence for these effects is still needed.

  14. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  15. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  16. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

    Science.gov (United States)

    2012-01-01

    Background Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis. PMID:22938382

  17. Diffuse large B-cell lymphoma (Richter syndrome) in patients with chronic lymphocytic leukaemia (CLL): a cohort study of newly diagnosed patients.

    Science.gov (United States)

    Parikh, Sameer A; Rabe, Kari G; Call, Timothy G; Zent, Clive S; Habermann, Thomas M; Ding, Wei; Leis, Jose F; Schwager, Susan M; Hanson, Curtis A; Macon, William R; Kay, Neil E; Slager, Susan L; Shanafelt, Tait D

    2013-09-01

    Nearly all information about patients with chronic lymphocytic leukaemia (CLL) who develop diffuse large B-cell lymphoma [Richter syndrome (RS)] is derived from retrospective case series or patients treated on clinical trials. We used the Mayo Clinic CLL Database to identify patients with newly diagnosed CLL between January 2000 and July 2011. Individuals who developed biopsy-proven RS during follow-up were identified. After a median follow-up of 4 years, 37/1641 (2·3%) CLL patients developed RS. The rate of RS was approximately 0·5%/year. Risk of RS was associated with advanced Rai stage at diagnosis (P CLL (1%/year). Stereotyped B-cell receptors (odds-ratio = 4·2; P = 0·01) but not IGHV4-39 family usage was associated with increased risk of RS. Treatment with combination of purine analogues and alkylating agents increased the risk of RS three-fold (odds-ratio = 3·26, P = 0·0003). Median survival after RS diagnosis was 2·1 years. The RS prognosis score stratified patients into three risk groups with median survivals of 0·5 years, 2·1 years and not reached. Both underlying characteristics of the CLL clone and subsequent CLL therapy influence the risk of RS. Survival after RS remains poor and new therapies are needed. © 2013 John Wiley & Sons Ltd.

  18. Acquired auditory agnosia in childhood and normal sleep electroencephalography subsequently diagnosed as Landau-Kleffner syndrome: a report of three cases.

    Science.gov (United States)

    van Bogaert, Patrick; King, Mary D; Paquier, Philippe; Wetzburger, Catherine; Labasse, Catherine; Dubru, Jean-Marie; Deonna, Thierry

    2013-06-01

      We report three cases of Landau-Kleffner syndrome (LKS) in children (two females, one male) in whom diagnosis was delayed because the sleep electroencephalography (EEG) was initially normal.   Case histories including EEG, positron emission tomography findings, and long-term outcome were reviewed.   Auditory agnosia occurred between the age of 2 years and 3 years 6 months, after a period of normal language development. Initial awake and sleep EEG, recorded weeks to months after the onset of language regression, during a nap period in two cases and during a full night of sleep in the third case, was normal. Repeat EEG between 2 months and 2 years later showed epileptiform discharges during wakefulness and strongly activated by sleep, with a pattern of continuous spike-waves during slow-wave sleep in two patients. Patients were diagnosed with LKS and treated with various antiepileptic regimens, including corticosteroids. One patient in whom EEG became normal on hydrocortisone is making significant recovery. The other two patients did not exhibit a sustained response to treatment and remained severely impaired.   Sleep EEG may be normal in the early phase of acquired auditory agnosia. EEG should be repeated frequently in individuals in whom a firm clinical diagnosis is made to facilitate early treatment. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  19. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

    Science.gov (United States)

    Eisenberger, Tobias; Slim, Rima; Mansour, Ahmad; Nauck, Markus; Nürnberg, Gudrun; Nürnberg, Peter; Decker, Christian; Dafinger, Claudia; Ebermann, Inga; Bergmann, Carsten; Bolz, Hanno Jörn

    2012-09-02

    Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.

  20. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

    Directory of Open Access Journals (Sweden)

    Eisenberger Tobias

    2012-09-01

    Full Text Available Abstract Background Usher syndrome (USH is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP. We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3. Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract. After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.

  1. When is Genomic Testing Cost-Effective? Testing for Lynch Syndrome in Patients with Newly-Diagnosed Colorectal Cancer and Their Relatives

    Directory of Open Access Journals (Sweden)

    Scott D. Grosse

    2015-09-01

    Full Text Available Varying estimates of the cost-effectiveness of genomic testing applications can reflect differences in study questions, settings, methods and assumptions. This review compares recently published cost-effectiveness analyses of testing strategies for Lynch Syndrome (LS in tumors from patients newly diagnosed with colorectal cancer (CRC for either all adult patients or patients up to age 70 along with cascade testing of relatives of probands. Seven studies published from 2010 through 2015 were identified and summarized. Five studies analyzed the universal offer of testing to adult patients with CRC and two others analyzed testing patients up to age 70; all except one reported incremental cost-effectiveness ratios (ICERs < $ 100,000 per life-year or quality-adjusted life-year gained. Three studies found lower ICERs for selective testing strategies using family history-based predictive models compared with universal testing. However, those calculations were based on estimates of sensitivity of predictive models derived from research studies, and it is unclear how sensitive such models are in routine clinical practice. Key model parameters that are influential in ICER estimates included 1 the number of first-degree relatives tested per proband identified with LS and 2 the cost of gene sequencing. Others include the frequency of intensive colonoscopic surveillance, the cost of colonoscopy, and the inclusion of extracolonic surveillance and prevention options.

  2. Diagnosing Flu

    Science.gov (United States)

    ... Types Seasonal Avian Swine Variant Pandemic Other Diagnosing Flu Questions & Answers Language: English (US) Español Recommend on ... How do I know if I have the flu? Your respiratory illness might be the flu if ...

  3. Red Blood Cell Transfusion Dependency and Hyperferritinemia Are Associated with Impaired Survival in Patients Diagnosed with Myelodysplastic Syndromes: Results from the First Polish MDS-PALG Registry.

    Science.gov (United States)

    Waszczuk-Gajda, Anna; Mądry, Krzysztof; Machowicz, Rafał; Drozd-Sokołowska, Joanna; Stella-Hołowiecka, Beata; Mital, Andrzej; Obara, Agata; Szmigielska-Kapłon, Anna; Sikorska, Anna; Subocz, Edyta; Jędrzejczak, Wiesław W; Dwilewicz-Trojaczek, Jadwiga

    2016-01-01

    Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal stem cell disorders characterized by ineffective hematopoiesis, cytopenias and a risk of progression to acute myeloid leukemia (AML). Anemia is the most frequent cytopenia diagnosed in patients with MDS. Regular RBC transfusions are the only treatment option for about 40% of patients. Transfusion-dependent patients develop secondary iron overload. The influence of serum ferritin (SF) concentration on survival and acute myeloid leukemia transformation in MDS patients remains controversial. The data for the Central European population is scarce and so far there is no description for Poland. The aim of this study was to perform a retrospective analysis of the relationship of SF concentration with red blood cell transfusion dependency, survival and transformation to acute myeloid leukemia. We retrospectively evaluated the data of the 819 MDS patients (58% male; median age 70 years) included in the MDS Registry of the MDS Section of the Polish Adult Leukemia Group (PALG). Analyses were performed on 190 patients diagnosed with MDS, maximal 6 months before inclusion to the registry in order to avoid selection bias (a shorter survival of higher risk MDS patients). Patients with hyperferritinemia higher than 1000 ng/L vs. patients with SF concentration lower than 1000 ng/L had a median survival of 320 days vs. 568 days, respectively (p log-rank = 0.014). The following factors were found to significantly worsen survival: RBC-transfusion dependence (p = 0.0033; HR 2.67L), platelet transfusion dependence (p = 0.0071; HR 3.321), hemoglobin concentration lower than 10 g/dL (p = 0.0036; HR 2.97), SF concentration higher than 1000 ng/L (p = 0.0023; HR = 2.94), platelet count lower than 10 G/L (p = 0.0081 HR = 5.04), acute leukemia transformation (p = 0.0081; HR 1.968). Taking into account the relatively low number of patients in previous studies exploring hyperferritinemia in MDS, the results of the first Polish

  4. Carcinoid syndrome diagnosed by echocardiography.

    Science.gov (United States)

    Garg, Scot; Bourantas, Christos V; Nair, Rajesh K; Alamgir, Farqad

    2011-02-17

    Right heart failure is a common presentation to both general physicians and cardiologists. Echocardiography is a useful investigation, and usually imaging of the liver is confined to helping estimate the right atrial pressure. We report a case of right heart failure where incidental imaging of the liver architecture during transoesophageal echocardiography helped in establishing the final diagnosis. Copyright © 2009 Elsevier Ireland Ltd. All rights reserved.

  5. Analysis of patterns of three-phase bone scintigraphy for patients with complex regional pain syndrome diagnosed using the proposed research criteria (the 'Budapest Criteria').

    Science.gov (United States)

    Moon, J Y; Park, S Y; Kim, Y C; Lee, S C; Nahm, F S; Kim, J H; Kim, H; Oh, S W

    2012-04-01

    Three-phase bone scintigraphy (TPBS) is an established objective diagnostic method for complex regional pain syndrome (CRPS), but its validity remains controversial. The aims of this study were: (i) to re-evaluate the diagnostic performance of TPBS, and (ii) to suggest new TPBS criteria based on the proposed research criteria for CPRS in Budapest (the 2003 Budapest research criteria). The medical records of 228 consecutive patients, evaluated using the Budapest research criteria, were retrospectively analysed. Of these, 116 patients were included in the present study, and 69 of 116 were diagnosed to have CRPS based on these criteria. The diagnostic performance of TPBS was assessed by determining its sensitivity, specificity, and positive and negative likelihood ratios, and new criteria for TPBS were identified by pattern analysis using the Budapest research criteria. The sensitivity, specificity, positive likelihood ratio, and negative likelihood ratio of TPBS for the diagnosis of CRPS according to the Budapest research criteria were 40.0, 76.5, 1.73, and 0.78, respectively. Furthermore, D-D-D, D-D-S, and D-D-I patterns [i.e. according to decreased (D), symmetrical (S), or increased (I) tracer uptake during Phases I, II, and III] of TPBS were found to be positively predictive for CRPS. The diagnostic value of a positive TPBS for CRPS is low from the view point of the Budapest research criteria. Our findings suggest that a diagnosis of CRPS using the Budapest research criteria should be considered when decreased patterns of TPBS are observed during Phases I and II.

  6. Definition of insulin resistance using the homeostasis model assessment (HOMA-IR) in IVF patients diagnosed with polycystic ovary syndrome (PCOS) according to the Rotterdam criteria.

    Science.gov (United States)

    Alebić, Miro Šimun; Bulum, Tomislav; Stojanović, Nataša; Duvnjak, Lea

    2014-11-01

    Polycystic ovary syndrome (PCOS) women are more insulin resistant than general population. Prevalence data on insulin resistance (IR) in PCOS vary depending on population characteristics and methodology used. The objectives of this study were to investigate whether IR in PCOS is exclusively associated with body mass and to assess the prevalence of IR in lean and overweight/obese PCOS. Study included 250 consecutive women who attended a Department of Human Reproduction diagnosed as having PCOS according to the Rotterdam criteria. Control group comprised 500 healthy women referred for male factor infertility evaluation during the same period as the PCOS women. PCOS women (n = 250) were more insulin resistant than controls (n = 500) even after adjustment for age and body mass index (BMI) (P = 0.03). Using logistic regression analysis, BMI ≥ 25 kg/m(2) (OR 6.0; 95 % CI 3.3-11.0), PCOS (OR 2.2; 95 % CI 1.4-3.5) and waist circumference ≥ 80 cm (OR 2.0; 95 % CI 1.1-3.8) were identified as independent determinants of IR (P IR was more prevalent in overweight/obese controls (n = 100) than in lean PCOS women (n = 150), 31 versus 9.3 %, but less prevalent than in overweight/obese PCOS (n = 100), 31 versus 57 %. The prevalence of IR between lean controls (5 %) and lean PCOS (9.3 %) did not significantly differ. Both PCOS-specific and obesity-related IR independently contribute to IR in PCOS. Using HOMA-IR cutoff value of 3.15 specific for Croatian women in our clinical setting, the assessed prevalence of IR in lean and overweight/obese PCOS women was 9.3 and 57 %, respectively.

  7. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

    Science.gov (United States)

    Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

    2015-12-01

    The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

  8. Computer quantification of “angle of collapse” on maximum expiratory flow volume curve for diagnosing asthma-COPD overlap syndrome

    Directory of Open Access Journals (Sweden)

    Wang W

    2016-12-01

    Full Text Available Wei Wang, Mengshuang Xie, Shuang Dou, Liwei Cui, Wei Xiao Department of Pulmonary Medicine, Qilu Hospital, Shandong University, Jinan, People’s Republic of China Background: In a previous study, we demonstrated that asthma patients with signs of emphysema on quantitative computed tomography (CT fulfill the diagnosis of asthma-COPD overlap syndrome (ACOS. However, quantitative CT measurements of emphysema are not routinely available for patients with chronic airway disease, which limits their application. Spirometry was a widely used examination tool in clinical settings and shows emphysema as a sharp angle in the maximum expiratory flow volume (MEFV curve, called the “angle of collapse (AC”. The aim of this study was to investigate the value of the AC in the diagnosis of emphysema and ACOS. Methods: This study included 716 participants: 151 asthma patients, 173 COPD patients, and 392 normal control subjects. All the participants underwent pulmonary function tests. COPD and asthma patients also underwent quantitative CT measurements of emphysema. The AC was measured using computer models based on Matlab software. The value of the AC in the diagnosis of emphysema and ACOS was evaluated using receiver-operating characteristic (ROC curve analysis. Results: The AC of COPD patients was significantly lower than that of asthma patients and control subjects. The AC was significantly negatively correlated with emphysema index (EI; r=-0.666, P<0.001, and patients with high EI had a lower AC than those with low EI. The ROC curve analysis showed that the AC had higher diagnostic efficiency for high EI (area under the curve =0.876 than did other spirometry parameters. In asthma patients, using the AC ≤137° as a surrogate criterion for the diagnosis of ACOS, the sensitivity and specificity were 62.5% and 89.1%, respectively. Conclusion: The AC on the MEFV curve quantified by computer models correlates with the extent of emphysema. The AC may become a

  9. Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes.

    Science.gov (United States)

    Svobodova, Karla; Zemanova, Zuzana; Lhotska, Halka; Novakova, Milena; Podskalska, Lucie; Belickova, Monika; Brezinova, Jana; Sarova, Iveta; Izakova, Silvia; Lizcova, Libuse; Berkova, Adela; Siskova, Magda; Jonasova, Anna; Cermak, Jaroslav; Michalova, Kyra

    2016-03-01

    Complex karyotypes are seen in approximately 20% of patients with myelodysplastic syndromes (MDS) and are associated with a high risk of transformation to acute myeloid leukemia and poor outcomes in patients. Copy number neutral loss of heterozygosity (CN-LOH, i.e., both copies of a chromosomal pair or their parts originate from one parent) might contribute to increased genomic instability in the bone-marrow cells of patients with MDS. The pathological potential of CN-LOH, which arises as a clonal aberration in a proportion of somatic cells, consists of tumor suppressor gene and oncogene homozygous mutations. The aim of our study was to evaluate the frequency of CN-LOH at 17p in bone-marrow cells of newly diagnosed MDS patients with complex chromosomal aberrations and to assess its correlation with mutations in the TP53 gene (17p13.1). CN-LOH was detected in 40 chromosomal regions in 21 (29%) of 72 patients analyzed. The changes in 27 of the 40 regions identified were sporadic. The most common finding was CN-LOH of the short arm of chromosome 17, which was detected in 13 (18%) of 72 patients. A mutational analysis confirmed the homozygous mutation of TP53 in all CN-LOH 17p patients, among which two frameshift mutations are not registered in the International Agency for Research on Cancer TP53 Database. CN-LOH 17p correlated with aggressive disease (median overall survival 4 months) and was strongly associated with a complex karyotype in the cohort studied, which might cause rapid disease progression in high-risk MDS. No other CN-LOH region previously recorded in MDS or AML patients (1p, 4q, 7q, 11q, 13q, 19q, 21q) was detected in our cohort of patients with complex karyotype examined at the diagnosis of MDS. The LOH region appeared to be balanced (i.e., with no DNA copy number change) when examined with conventional and molecular cytogenetic methods. Therefore, a microarray that detects single-nucleotide polymorphisms is an ideal method with which to identify and

  10. Associations between salivary gland histopathologic diagnoses and phenotypic features of Sjögren's syndrome among 1,726 registry participants

    DEFF Research Database (Denmark)

    Daniels, Troy E; Cox, Darren; Shiboski, Caroline H

    2011-01-01

    To examine associations between labial salivary gland (LSG) histopathology and other phenotypic features of Sjögren's syndrome (SS).......To examine associations between labial salivary gland (LSG) histopathology and other phenotypic features of Sjögren's syndrome (SS)....

  11. Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

    Directory of Open Access Journals (Sweden)

    Olatz Villate

    2018-01-01

    Full Text Available Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS of a panel of intellectual disability related genes was performed in an adult patient without molecular diagnosis. A splice donor variant in CHD7 (c.5665 + 1G > T was identified. To study its potential pathogenicity, exons and flanking intronic sequences were amplified from patient DNA and cloned into the pSAD® splicing vector. HeLa cells were transfected with this construct and a wild-type minigene and functional analysis were performed. The construct with the c.5665 + 1G > T variant produced an aberrant transcript with an insert of 63 nucleotides of intron 28 creating a premature termination codon (TAG 25 nucleotides downstream. This would lead to the insertion of 8 new amino acids and therefore a truncated 1896 amino acid protein. As a result of this, the patient was diagnosed with CHARGE syndrome. Functional analyses underline their usefulness for studying the pathogenicity of variants found by NGS and therefore its application to accurately diagnose patients.

  12. Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

    Science.gov (United States)

    Villate, Olatz; Ibarluzea, Nekane; Fraile-Bethencourt, Eugenia; Valenzuela, Alberto; Velasco, Eladio A; Grozeva, Detelina; Raymond, F L; Botella, María P; Tejada, María-Isabel

    2018-01-01

    Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability related genes was performed in an adult patient without molecular diagnosis. A splice donor variant in CHD7 (c.5665 + 1G > T) was identified. To study its potential pathogenicity, exons and flanking intronic sequences were amplified from patient DNA and cloned into the pSAD ® splicing vector. HeLa cells were transfected with this construct and a wild-type minigene and functional analysis were performed. The construct with the c.5665 + 1G > T variant produced an aberrant transcript with an insert of 63 nucleotides of intron 28 creating a premature termination codon (TAG) 25 nucleotides downstream. This would lead to the insertion of 8 new amino acids and therefore a truncated 1896 amino acid protein. As a result of this, the patient was diagnosed with CHARGE syndrome. Functional analyses underline their usefulness for studying the pathogenicity of variants found by NGS and therefore its application to accurately diagnose patients.

  13. A 12-week treatment with the long-acting glucagon-like peptide 1 receptor agonist liraglutide leads to significant weight loss in a subset of obese women with newly diagnosed polycystic ovary syndrome.

    Science.gov (United States)

    Jensterle, Mojca; Kravos, Nika Aleksandra; Pfeifer, Marija; Kocjan, Tomaz; Janez, Andrej

    2015-01-01

    The long-acting glucagon-like peptide 1 receptor agonist liraglutide is linked to progressive and sustained weight loss in obese people with diabetes. However, its efficacy and safety in women with polycystic ovary syndrome (PCOS) has not yet been addressed. Thirty-two obese women (aged 27.6±7.2 years, BMI 39.5±6.2 kg/m(2)) with newly diagnosed PCOS were randomized to receive either liraglutide 1.2 mg QD sc (n=17) or metformin 1000 mg BID po (n=15) for 12 weeks; 28 patients completed the study (14 on liraglutide and 14 on metformin). The main outcome was change in body weight. Intention-to-treat analysis showed significant BMI (-0.98 kg/m(2); pweight (-2.52 kg; p2), severe obesity and higher odds ratio for the metabolic syndrome (OR=3.9), the patients fared much better with liraglutide than with metformin (mean BMI decreased 2.13 kg/m(2) vs. 0.62 kg/m(2), respectively). Short-term liraglutide treatment was associated with significant weight loss in a subset of obese patients with newly diagnosed PCOS and a higher metabolic risk profile.

  14. The application of Reiki in nurses diagnosed with Burnout Syndrome has beneficial effects on concentration of salivary IgA and blood pressure.

    Science.gov (United States)

    Díaz-Rodríguez, Lourdes; Arroyo-Morales, Manuel; Cantarero-Villanueva, Irene; Férnandez-Lao, Carolina; Polley, Marie; Fernández-de-las-Peñas, César

    2011-01-01

    This study aimed to investigate the immediate effects of the secretory immunoglobulin A (sIgA), α-amylase activity and blood pressure levels after the application of a Reiki session in nurses with Burnout Syndrome. A randomized, double-blind, placebo-controlled, crossover design was conducted to compare the immediate effects of Reiki versus control intervention (Hand-off sham intervention) in nurses with Burnout Syndrome. Sample was composed of eighteen nurses (aged 34-56 years) with burnout syndrome. Participants were randomly assigned to receive either a Reiki treatment or a placebo (sham Reiki) treatment, according to the established order in two different days. The ANOVA showed a significant interaction time x intervention for diastolic blood pressure (F=4.92, P=0.04) and sIgA concentration (F=4.71, P=0.04). A Reiki session can produce an immediate and statistically significant improvement in sIgA concentration and diastolic blood pressure in nurses with Burnout Syndrome.

  15. Health-related quality of life in women with newly diagnosed polycystic ovary syndrome randomized between clomifene citrate plus metformin or clomifene citrate plus placebo

    NARCIS (Netherlands)

    Moll, E.; van Wely, M.; Lambalk, C. B.; Bossuyt, P. M. M.; van der Veen, F.

    2012-01-01

    What is the health-related quality of life (HRQoL) in women with polycystic ovary syndrome (PCOS) undergoing ovulation induction with clomifene citrate (CC) combined with metformin compared with those using CC combined with placebo? Overall quality of life in women with PCOS treated with CC plus

  16. Health-related quality of life in women with newly diagnosed polycystic ovary syndrome randomized between clomifene citrate plus metformin or clomifene citrate plus placebo

    NARCIS (Netherlands)

    Moll, E.; van Wely, M.; Lambalk, C.B.; Bossuyt, P.M.M.; van der Veen, F.

    2012-01-01

    Study Question What is the health-related quality of life (HRQoL) in women with polycystic ovary syndrome (PCOS) undergoing ovulation induction with clomifene citrate (CC) combined with metformin compared with those using CC combined with placebo? Summary Answer Overall quality of life in women with

  17. Profiles of Children with down Syndrome Who Meet Screening Criteria for Autism Spectrum Disorder (ASD): A Comparison with Children Diagnosed with ASD Attending Specialist Schools

    Science.gov (United States)

    Warner, G.; Howlin, P.; Salomone, E.; Moss, J.; Charman, T.

    2017-01-01

    Background: Recent research suggests that around 16% to 18% of children with Down syndrome (DS) also meet diagnostic criteria for autism spectrum disorder (ASD). However, there are indications that profiles of autism symptoms in this group may vary from those typically described in children with ASD. Method: Rates of autism symptoms and emotional…

  18. "Shin splint" syndrome and tibial stress fracture in the same patient diagnosed by means of (99m)Tc-HMDP SPECT/CT.

    Science.gov (United States)

    Vicente, Justo Serrano; Grande, Maria Luz Domínguez; Torre, Jose Rafael Infante; Madrid, Juan Ignacio Rayo; Barquero, Carmen Durán; Bernardo, Lucía García; Sánchez, Román Sánchez

    2013-04-01

    We show a patient who presented leg pain triggered by intense exercise. The most likely diagnosis was a possible tibial stress fracture or a "shin splint" syndrome (soleus enthesopathy). We performed a bone scintigraphy including SPECT/CT that revealed the presence of the two concomitant pathologies. SPECT/CT identified the hot spot superimposed with bone lesion in the tibial stress fracture and only remodeling activity without evidence of cortical lesions in the enthesopathy processes.

  19. The perchlorate discharge test with {sup 123}I for the diagnosis of the Pendred syndrome in children; Der Depletionstest mit {sup 123}Iod zur Diagnose des Pendred-Syndroms bei Kindern

    Energy Technology Data Exchange (ETDEWEB)

    Hahn, K.; Fischer, S. [Klinik und Poliklinik fuer Nuklearmedizin, Klinikum der Ludwig-Maximilians-Univ. Muenchen (Germany)

    2009-03-15

    The method for the diagnosis of the Pendred Syndrome in children by the Perchlorate discharge test using {sup 123}I is described. The older child, who has the Pendred Syndrome and the obligatory hearing deficit, frequently has neither a goitre nor hypothyroidism, but other investigations (bone growth, scars and function tests) can also show changes. However a more certain diagnosis of this disorder in children is possible by the perchlorate discharge test using {sup 123}I. (orig.)

  20. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  1. Utility of tests used to diagnose asthma, gastroesophageal reflux and upper airway cough syndrome in patients with chronic cough and normal chest radiography

    Directory of Open Access Journals (Sweden)

    Ahmed E. Mansour

    2012-07-01

    Conclusion: Asthma, UACS, GERD, or some combination of these represent 78% of the causes of chronic cough in our sample. Therefore, these conditions should be considered first during diagnostic evaluation of patients with chronic cough and normal CXR. Inspite of some discrepancy between initial and final diagnoses, the study identifies the group of diagnostic methods best able to identify the cause in the vast majority of cases of chronic cough including sinuses CT scan, rhinoscopy, pulmonary function tests, and esophageal pH monitoring.

  2. Incomplete form of Primary Hypertrophic Osteoarthropathy (Touraine-Solente-Gole Syndrome) Masquerading as Polyartrhalgia Diagnosed in Technetium-99m-Methylene Diphosphonate Scintigraphy: An Interesting Case Report.

    Science.gov (United States)

    Sivathapandi, Thangalakshmi; Amalachandran, Jaykanth; Simon, Shelley; Elangovan, Indirani

    2018-01-01

    The primary hypertrophic osteoarthropathy (PHOA) (pachydermoperiostosis) is a rare genetic/hereditary disease characterized by skin changes (pachydermia), clubbing of fingers and periosteal thickening (periostitis) with sub-periosteal new bone formation. Here we describe a case of an adolescent male who presented with clubbing and polyarthralgia. On evaluation with scintigraphy and SPECT-CT, he was diagnosed to have incomplete form of PHOA(skeletal manifestations without skin changes). The identification of incomplete form of primary hypertrophic osteoarthropathy which can be easily misdiagnosed as rheumatoid arthritis is discussed here.

  3. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  4. Miliary tuberculosis with no pulmonary involvement in myelodysplastic syndromes: a curable, yet rarely diagnosed, disease: case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Krambovitis Elias

    2008-03-01

    Full Text Available Abstract Background Although tuberculosis is not uncommon among patients with myelodysplastic syndrome (MDS, only a few reports of such patients suffering from miliary tuberculosis (MT exist. MT often presents as a fever of unknown origin and it is a curable disease, yet fatal if left untreated. Case presentation We report a case of MT with no clinical or laboratory indications of pulmonary involvement in a patient with MDS, and review the relevant literature. Mycobacterium tuberculosis was isolated from the liquid culture of a bone marrow aspirate. Conclusion Even if the initial diagnostic investigation for a fever of obscure etiology is negative, MT should not be excluded from the differential diagnosis list. Since it is a curable disease, persistent and vigorous diagnostic efforts are warranted. In suspected cases, mycobacterial blood cultures should be collected as soon as possible after hospital admission and early bone marrow aspirate with mycobacterial cultures is advocated.

  5. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  6. Sinusoidal obstructive syndrome diagnosed with superparamagnetic iron oxide-enhanced magnetic resonance imaging in patients with chemotherapy-treated colorectal liver metastases.

    Science.gov (United States)

    Ward, Janice; Guthrie, James A; Sheridan, Maria B; Boyes, Sheila; Smith, Jonathan T; Wilson, Daniel; Wyatt, Judy I; Treanor, Darren; Robinson, Philip J

    2008-09-10

    To assess the predictive value of superparamagnetic iron oxide (SPIO) -enhanced T2-weighted gradient echo (GRE) imaging to determine the presence and severity of sinusoidal obstructive syndrome (SOS). Sixty hepatic resection patients with colorectal metastases treated with chemotherapy underwent unenhanced magnetic resonance imaging (MRI) followed by T2-weighted GRE sequences obtained after SPIO. The images were reviewed in consensus by two experienced observers who determined the presence and severity of linear and reticular hyperintensities, indicating SOS-type liver injury, using a 4-point ordinal scale. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) with 95% CIs for the detection of SOS were calculated. Twenty-four of 60 patients had moderate to severe SOS on MRI. MRI achieved a sensitivity of 87% (95% CI, 66% to 97%), specificity of 89% (95% CI, 75% to 97%), PPV of 83% (95% CI, 63% to 95%), and NPV of 92% (95% CI, 77% to 98%). SOS was never found at surgery or histology in patients whose background liver parenchyma was normal on SPIO-enhanced MRI. SOS is present in a significant proportion of patients with treated colorectal metastases and is effectively detected on SPIO-enhanced T2-weighted GRE images.

  7. How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey.

    Science.gov (United States)

    Nickels, Katherine; Thibert, Ronald; Rau, Stephanie; Demarest, Scott; Wirrell, Elaine; Kossoff, Eric H; Joshi, Charuta; Nangia, Srishti; Shellhaas, Renee

    2018-04-25

    To obtain and assess opinions on EMAS diagnostic criteria, recommended investigations, and therapeutic options, from a large group of physicians who care for children with EMAS. The EMAS focus group of PERC created a survey to assess the opinions of pediatric neurologists who care for children with EMAS regarding diagnosis and treatment of this condition, which was sent to members of PERC, AES, and CNS. A Likert scale was used to assess the respondents' opinions on the importance of diagnostic and exclusion criteria (five point scale), investigations (four point scale), and treatment (six point scale) of EMAS. Inclusion/exclusion criteria were then classified as critical, strong, or modest. Investigations were classified as essential, recommended, or possible. Therapies were classified as first line, beneficial, indeterminate benefit, or contraindicated. Survey results from the 76 participants determined the following: EMAS inclusion criteria: history suggestive of MAS (critical), recorded or home video suggestive of MAS, generalized discharges on inter-ictal EEG, normal neuroimaging, normal development prior to seizure onset (strong). EMAS exclusionary criteria: epileptic spasms, abnormal neuroimaging, focal abnormal exam, seizure onset six years (strong). EEG and MRI (essential), amino acids, organic acids, fatty acid/acylcarnitine profile, microarray, genetic panel, lactate/pyruvate, CSF and serum glucose/lactate (strong). Valproic acid (first line), topiramate, zonisamide, levetiracetam, benzodiazepines, and dietary therapies (beneficial). To date, no similar surveys have been published, even though early syndrome identification and initiation of effective treatment have been associated with improved outcome in EMAS. Medications that exacerbate seizures in EMAS have also been identified. This survey identified critical and preferred diagnostic electro clinical features, investigations, and treatments for EMAS. It will guide future research and is a crucial

  8. Non-invasive neurosensory testing used to diagnose and confirm successful surgical management of lower extremity deep distal posterior compartment syndrome

    Directory of Open Access Journals (Sweden)

    Guyton Gregory P

    2009-05-01

    Full Text Available Abstract Background Chronic exertional compartment syndrome (CECS is characterized by elevated pressures within a closed space of an extremity muscular compartment, causing pain and/or disability by impairing the neuromuscular function of the involved compartment. The diagnosis of CECS is primarily made on careful history and physical exam. The gold standard test to confirm the diagnosis of CECS is invasive intra-compartmental pressure measurements. Sensory nerve function is often diminished during symptomatic periods of CECS. Sensory nerve function can be documented with the use of non-painful, non-invasive neurosensory testing. Methods Non-painful neurosensory testing of the myelinated large sensory nerve fibers of the lower extremity were obtained with the Pressure Specified Sensory Device™ in a 25 year old male with history and invasive compartment pressures consistent with CECS both before and after running on a tread mill. After the patient's first operation to release the deep distal posterior compartment, the patient failed to improve. Repeat sensory testing revealed continued change in his function with exercise. He was returned to the operating room where a repeat procedure revealed that the deep posterior compartment was not completely released due to an unusual anatomic variant, and therefore complete release was accomplished. Results The patient's symptoms numbness in the plantar foot and pain in the distal calf improved after this procedure and his repeat sensory testing performed before and after running on the treadmill documented this improvement. Conclusion This case report illustrates the principal that non-invasive neurosensory testing can detect reversible changes in sensory nerve function after a provocative test and may be a helpful non-invasive technique to managing difficult cases of persistent lower extremity symptoms after failed decompressive fasciotomies for CECS. It can easily be performed before and after

  9. Health-related quality of life in women with newly diagnosed polycystic ovary syndrome randomized between clomifene citrate plus metformin or clomifene citrate plus placebo.

    Science.gov (United States)

    Moll, E; van Wely, M; Lambalk, C B; Bossuyt, P M M; van der Veen, F

    2012-11-01

    What is the health-related quality of life (HRQoL) in women with polycystic ovary syndrome (PCOS) undergoing ovulation induction with clomifene citrate (CC) combined with metformin compared with those using CC combined with placebo? Overall quality of life in women with PCOS treated with CC plus metformin was significantly lower than in women treated with CC plus placebo. There are no data on HRQoL in adult women who receive ovulation induction with the purpose of conceiving. Women with PCOS have higher scores on depression and anxiety scales and lower QoL scores than women without PCOS. This study was a secondary analysis of a multi-centre RCT completed between June 2001 and May 2004. The randomization was stratified per centre, and the centres received blinded, numbered containers with medication. There were172 women available for the HRQoL assessment: 85 were allocated to metformin and 87 were allocated to placebo. The Rotterdam Symptom Checklist (RSCL), a standard self-administered questionnaire, was used to assess physical symptoms, psychological distress, activity levels and overall HRQoL. In the intention to treat analysis, we found differences between the treatment groups with respect to physical symptoms and overall HRQoL. Physical well-being was significantly impaired in women allocated to metformin but not in women allocated to placebo. The increase in physical symptoms in the metformin group was caused by side-effects typical of metformin, and was most pronounced at Week 1 (mean difference 12 [95% confidence interval (CI): 8-16] and still apparent at Week 16 [mean difference 7 (95% CI 2-12]. Overall well-being was significantly impaired in the metformin group compared with the placebo group [mean difference 13 (95% CI 6-20)]. RSCL measurements were available only for three quarters of the participants. Although the number of missing questionnaires and the baseline measurements, were comparable between the treatment groups, some form of selection bias

  10. At få en diagnose

    DEFF Research Database (Denmark)

    Olesen, Birgitte Ravn; Jansbøl, Kirsten

    I dette hæfte ligger fokus på døvblindblevnes fortællinger om at have et handicap uden at kende sin diagnose og om at håndtre at få diagnosen RP eller Usher syndrom. Det er karakteristisk for fortællingerne, at det har stor betydning - hvornår i livet, man får sin diagnose - under hvilke...

  11. Effectiveness of a formative program about transcultural nursing on aspects of the mental health on immigrants children between 12 and 17 years old diagnosed of stress for movement syndrome

    Directory of Open Access Journals (Sweden)

    Elvira María Pértega Andía

    2010-01-01

    Full Text Available Objectives: To value the efficiency of a formative program for Transcultural Nursing on the level of anxiety, emotional balance and social implication for children of immigrant population diagnosed of Syndrome of Stress for Movement.Methodology: Clinical random Essay with assignment for groups. There will be realized in the Area 6 of the Community of Madrid, the selection of the participants will realize in the centers of Primary care selected as group control and experimentally.An evaluation will be realized in the center of Mental Health of all the participants and the results will be compared after six months in health of all the participants (group control and experimental, as well as the nursing aims and the interventions realized in every center.The evaluation of every variable will carry out by means of validated instruments and by means of the utilization of nursing taxonomy.The population size belongs 14000 individuals and there will select a sample of 156 children, calculated for a mistake alpha of 0,05 a power of 0,8 and an estimated effect of 0,4.The analysis of information will be realized by comparison pre and post, as well as intergroups, besides the descriptive analysis of the variables.

  12. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed

    2006-01-01

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  13. Diagnosing Tic Disorders

    Science.gov (United States)

    ... Submit" /> Information For… Media Policy Makers Diagnosing Tic Disorders Language: English (US) Español (Spanish) Recommend on ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder To be diagnosed with a persistent tic ...

  14. Sjogren-Larsson Syndrome

    Science.gov (United States)

    ... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

  15. Genetics Home Reference: Jacobsen syndrome

    Science.gov (United States)

    ... compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also ...

  16. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Marfan Syndrome

    Science.gov (United States)

    ... can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early ... This helps doctors stay on top of any new problems. Doctors might also ... or kids with amblyopia or strabismus will probably need to wear glasses. ...

  18. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  19. Over diagnosing? Time for the 'exercise is medicine' movement to ...

    African Journals Online (AJOL)

    and this behaviour seems to attract more unsuspecting patients. It does not take long for a condition to become fashionable. Consider, for example, the rather sudden increase in the number of patients getting diagnosed with conditions that used to be rare (chronic fatigue syndrome, irritable bowel syndrome, attention deficit.

  20. Diagnosing mucopolysaccharidosis IVA

    NARCIS (Netherlands)

    T.C. Wood (Timothy); K. Harvey (Kirsten); M. Beck (Markus); M.G. Burin (Maira Graeff); Y.H. Chien; H.J. Church (Heather); V. D'Almeida (Vânia); O.P. van Diggelen (Otto); M. Fietz (Michael); R. Giugliani (Roberto); P. Harmatz (Paul); S.M. Hawley (Sara); W.L. Hwu; D. Ketteridge (David); Z. Lukacs; N. Miller (Nicola); M. Pasquali (Marzia); A. Schenone (Andrea); J.N. Thompson; K. Tylee (Karen); C. Yu (Cong); C. Hendriksz (Chris)

    2013-01-01

    textabstractMucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and

  1. The Consistency Between Clinical and Electrophysiological Diagnoses

    Directory of Open Access Journals (Sweden)

    Esra E. Okuyucu

    2009-09-01

    Full Text Available OBJECTIVE: The aim of this study was to provide information concerning the impact of electrophysiological tests in the clinical management and diagnosis of patients, and to evaluate the consistency between referring clinical diagnoses and electrophysiological diagnoses. METHODS: The study included 957 patients referred to the electroneuromyography (ENMG laboratory from different clinics with different clinical diagnoses in 2008. Demographic data, referring clinical diagnoses, the clinics where the requests wanted, and diagnoses after ENMG testing were recorded and statistically evaluated. RESULTS: In all, 957 patients [644 (67.3% female and 313 (32.7% male] were included in the study. Mean age of the patients was 45.40 ± 14.54 years. ENMG requests were made by different specialists; 578 (60.4% patients were referred by neurologists, 122 (12.8% by orthopedics, 140 (14.6% by neurosurgeons, and 117 (12.2% by physical treatment and rehabilitation departments. According to the results of ENMG testing, 513 (53.6% patients’ referrals were related to their referral diagnosis, whereas 397 (41.5% patients had normal ENMG test results, and 47 (4.9% patients had a diagnosis that differed from the referring diagnosis. Among the relation between the referral diagnosis and electrophysiological diagnosis according to the clinics where the requests were made, there was no statistical difference (p= 0.794, but there were statistically significant differences between the support of different clinical diagnoses, such as carpal tunnel syndrome, polyneuropathy, radiculopathy-plexopathy, entrapment neuropathy, and myopathy based on ENMG test results (p< 0.001. CONCLUSION: ENMG is a frequently used neurological examination. As such, referrals for ENMG can be made to either support the referring diagnosis or to exclude other diagnoses. This may explain the inconsistency between clinical referring diagnoses and diagnoses following ENMG

  2. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  3. Acute Coronary Syndrome

    Science.gov (United States)

    ... heart cells are dying. An electrocardiogram (ECG or EKG) can diagnose an acute coronary syndrome by measuring ... Privacy Policy Popular Articles 1 Understanding Blood Pressure Readings 2 Sodium and Salt 3 Heart Attack Symptoms ...

  4. Popliteal artery entrapment syndrome.

    LENUS (Irish Health Repository)

    O'Leary, D P

    2010-01-01

    Popliteal artery entrapment syndrome is a rare abnormality of the anatomical relationship between the popliteal artery and adjacent muscles or fibrous bands in the popliteal fossa. The following is a case report of a 19 year old female, in whom popliteal artery entrapment syndrome was diagnosed, and successfully treated surgically. A review of literature is also presented and provides details on how PAES is classified, diagnosed both clinically and radiologically, and treated surgically.

  5. Being publicly diagnosed

    DEFF Research Database (Denmark)

    Konradsen, Hanne; Lillebaek, Troels; Wilcke, Torgny

    2014-01-01

    a patient with TB, and finally being in medical treatment. Before being diagnosed with TB, patients were weighing between biding their time and deciding to undergo an examination. Social pressure and feelings of social responsibility tended to affect the decision. Having undergone the examination......INTRODUCTION: Tuberculosis (TB) is a disease which affects people worldwide, but there is knowledge lacking about patients' experiences in low-prevalence and high-income countries. AIM: To provide a theoretical framework for the process of being diagnosed with tuberculosis in a Danish setting....... METHOD: A grounded theory design with field studies and qualitative interviews, following the recommendations from Glaser and Strauss. RESULT: A process of being publicly diagnosed was identified, which developed during the patient's trajectory from being on the way to becoming a patient, becoming...

  6. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  7. Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood

    Science.gov (United States)

    Smith, Leann E.; Barker, Erin T.; Seltzer, Marsha Mailick; Abbeduto, Leonard; Greenberg, Jan S.

    2012-01-01

    The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n = 30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n = 106) and (b) individuals diagnosed with autism (but not fragile X syndrome;…

  8. [Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

    Science.gov (United States)

    Berio, A; Trucchi, R; Meliota, M

    1992-05-01

    The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

  9. Churg-strauss syndrome

    Directory of Open Access Journals (Sweden)

    Brar B

    2009-01-01

    Full Text Available We report a case of 29-year-old man who presented with cutaneous vasculitis and was subsequently diagnosed as a case of Churg-Strauss syndrome. The patient fulfilled five out of the six criteria of the syndrome developed by American College of Rheumatology.

  10. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having

  11. The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23(rd) week of a pregnancy: A very rare and unusual case far from the original geography.

    Science.gov (United States)

    Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat

    2012-01-01

    The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey. Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder. The characteristic features are amputation of the upper and lower extremities with aplasia of the hands and feet. The disorder affects only the extremities without other systemic manifestations. In this report, we present the first known case of Horn Kolb syndrome in Turkey, along with the diagnostic features. Severe dysmorphic skeletal anomalies should be excluded as soon as the earlier gestational weeks in every pregnancy by visualizing all 4 limbs of the fetus in routine prenatal ultrasound screening.

  12. Diagnosing plant problems

    Science.gov (United States)

    Cheryl A. Smith

    2008-01-01

    Diagnosing Christmas tree problems can be a challenge, requiring a basic knowledge of plant culture and physiology, the effect of environmental influences on plant health, and the ability to identify the possible causes of plant problems. Developing a solution or remedy to the problem depends on a proper diagnosis, a process that requires recognition of a problem and...

  13. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  14. Autism Spectrum Disorder and Fragile X Syndrome

    Science.gov (United States)

    ... only after another family member has been diagnosed. Autism Spectrum Disorder and Fragile X Syndrome Fragile X syndrome is ... gene cause of ASD What Is Autism Spectrum Disorder? Autism spectrum disorder (ASD) is a behavioral diagnosis. The range ...

  15. The Score Model Containing Chinese Medicine Syndrome Element of Blood Stasis Presented a Better Performance Compared to APRI and FIB-4 in Diagnosing Advanced Fibrosis in Patients with Chronic Hepatitis B

    Directory of Open Access Journals (Sweden)

    Xiao-Ling Chi

    2016-01-01

    Full Text Available This study aims to explore a useful noninvasive assessment containing TCM syndrome elements for liver fibrosis in CHB patients. The demographic, clinical, and pathological data were retrospectively collected from 709 CHB patients who had ALT less than 2 times the upper limit of normal from April 2009 to October 2012. Logistical regression and area under receiver-operator curve (AUROC were used to determine the diagnostic performances of simple tests for advanced fibrosis (Scheuer stage, F ≥ 3. Results showed that the most common TCM syndrome element observed in this CHB population was dampness and Qi stagnation, followed by blood stasis, by heat, and less by Qi deficiency and Yin deficiency. The logistical regression analysis identified AST ≥ 35 IU/L, PLT ≤ 161 × 109/L, and TCM syndrome element of blood stasis as the independent risk factors for advanced fibrosis. Therefore, a score model containing these three factors was established and tested. The score model containing blood stasis resulted in a higher AUC (AUC = 0.936 compared with APRI (AUC = 0.731 and FIB-4 (AUC = 0.709. The study suggested that the score model containing TCM syndrome element of blood stasis could be used as a useful diagnostic tool for advanced fibrosis in CHB patients and presented a better performance compared to APRI and FIB-4.

  16. Liability for Diagnosing Malingering.

    Science.gov (United States)

    Weiss, Kenneth J; Van Dell, Landon

    2017-09-01

    Malingering is a medical diagnosis, but not a psychiatric disorder. The label imputes that an evaluee has intentionally engaged in false behavior or statements. By diagnosing malingering, psychiatrists pass judgment on truthfulness. Evaluees taking exception to the label may claim that the professional has committed defamation of character (libel or slander) when the diagnosis is wrong and costs the claimant money or benefits. Clinicians may counter by claiming immunity or that the diagnosis was made in good faith. This problem has come into focus in military and veterans' contexts, where diagnoses become thresholds for benefits. Through historical and literary examples, case law, and military/veterans' claims of disability and entitlement, the authors examine the potency of the malingering label and the potential liability for professionals and institutions of making this diagnosis. © 2017 American Academy of Psychiatry and the Law.

  17. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  18. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed with Cancer Fertility Preservation for Children Diagnosed ... for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed with Cancer Fertility Preservation for Children Diagnosed ...

  19. Diagnoser som styringshybrider

    DEFF Research Database (Denmark)

    Bossen, Claus; Danholt, Peter; Ubbesen, Morten Bonde

    2016-01-01

    - Relaterede Grupper (DRG). DRG er et internationalt udbredt system til at knytte patienter og deres behandlingsomkostninger sammen i faste kategorier med henblik på at måle hospitalers produktivitet. Med afsæt i Science-Technology-Studies (STS)-feltet analyserer artiklen, hvorledes diagnoser overskrider deres......, hvordan DRG-systemet alternativt kan anskues som en samfundsudviklende infrastruktur, idet det forsamler og skaber gensidigt involverende interaktioner imellem politiske, administrative og sundhedsprofessionelle domæner. En sådan indsigt bidrager til en udvidet forståelse af infrastrukturers roller som...

  20. Senior-loken syndrome in a Saudi child

    International Nuclear Information System (INIS)

    Al-Fadhel, M.; Al-Amir, A.

    2008-01-01

    Senior-loken syndrome is a rare syndrome of retinopathy and nephronophthisis. The clinical features of this syndrome include renal involvement, ocular involvement, retinitis pigmentosa and other systemic involvement. We describe an 11- year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from Arabian Peninsula. (author)

  1. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  2. Diagnosing night sweats.

    Science.gov (United States)

    Viera, Anthon J; Bond, Michael M; Yates, Scott W

    2003-03-01

    Night sweats are a common outpatient complaint, yet literature on the subject is scarce. Tuberculosis and lymphoma are diseases in which night sweats are a dominant symptom, but these are infrequently found to be the cause of night sweats in modern practice. While these diseases remain important diagnostic considerations in patients with night sweats, other diagnoses to consider include human immunodeficiency virus, gastroesophageal reflux disease, obstructive sleep apnea, hyperthyroidism, hypoglycemia, and several less common diseases. Antihypertensives, antipyretics, other medications, and drugs of abuse such as alcohol and heroin may cause night sweats. Serious causes of night sweats can be excluded with a thorough history, physical examination, and directed laboratory and radiographic studies. If a history and physical do not reveal a possible diagnosis, physicians should consider a purified protein derivative, complete blood count, human immunodeficiency virus test, thyroid-stimulating hormone test, erythrocyte sedimentation rate evaluation, chest radiograph, and possibly chest and abdominal computed tomographic scans and bone marrow biopsy.

  3. Diagnosable structured logic array

    Science.gov (United States)

    Whitaker, Sterling (Inventor); Miles, Lowell (Inventor); Gambles, Jody (Inventor); Maki, Gary K. (Inventor)

    2009-01-01

    A diagnosable structured logic array and associated process is provided. A base cell structure is provided comprising a logic unit comprising a plurality of input nodes, a plurality of selection nodes, and an output node, a plurality of switches coupled to the selection nodes, where the switches comprises a plurality of input lines, a selection line and an output line, a memory cell coupled to the output node, and a test address bus and a program control bus coupled to the plurality of input lines and the selection line of the plurality of switches. A state on each of the plurality of input nodes is verifiably loaded and read from the memory cell. A trusted memory block is provided. The associated process is provided for testing and verifying a plurality of truth table inputs of the logic unit.

  4. Anemia, intractable vomiting, chronic diarrhea, and syndrome of inappropriate antidiuretic secretion: a diagnostic dilemma: Disseminated strongyloidosis in a patient with newly diagnosed HTLV infection-case report and review of literature.

    Science.gov (United States)

    Tariq, Hassan; Kamal, Muhammad Umar; Reddy, Pavithra; Bajantri, Bharat; Niazi, Masooma; Matela, Ajsza; Zeana, Cosmina; Ihimoyan, Ariyo; Dev, Anil; Chilimuri, Sridhar

    2017-12-01

    Strongyloidiasis hyperinfection and disseminated disease have high mortality rates due to several complications and early detection of Strongyloides infection is therefore prudent. A 37-year-old male patient came with chronic diarrhea, intractable vomiting and was found to have hyponatremia, and anemia on the initial laboratory tests. Further work up revealed syndrome of inappropriate antidiuretic secretion to be the cause of the hyponatremia in addition to gastrointestinal loses. His hospital course was complicated by persistent hyponatremia and later development of partial small bowel obstruction. Considering his symptoms we had a suspicion of small bowel pathology for which he underwent an esophagogastroduodenoscopywith biopsies that revealed strongyloidosis as the cause of his symptoms. He was also found to have human T-cell lymphotropic virus infection, likely contributing to the disseminated disease. He was started on ivermectin with complete resolution of symptoms and improvement of hyponatremia. It is very important to suspect Strongyloides infection in a patient presenting with syndrome ofinappropriate antidiuretic secretion as hyperinfection and disseminated disease can be life threatening without antihelmintic therapy. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  5. Diagnosing Dementia—Positive Signs

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues Diagnosing Dementia—Positive Signs Past Issues / Fall 2007 Table of ... easy, affordable blood test that could accurately diagnose Alzheimer's disease (AD)—even before symptoms began to show? Researchers ...

  6. How Do Health Care Providers Diagnose Pregnancy Loss or Miscarriage?

    Science.gov (United States)

    ... pp. 492–497.e1). Elsevier. What are common symptoms? Causes and Risks How is it diagnosed? Is there a way to prevent? Related A-Z Topics High-Risk Pregnancy Polycystic Ovary Syndrome (PCOS) Stillbirth NICHD News Spotlights Release: Anti-HIV ...

  7. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  8. Eagle's Syndrome

    Science.gov (United States)

    Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

  9. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  10. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  11. Estimating glomerular filtration rate (GFR) in children. The average between a cystatin C- and a creatinine-based equation improves estimation of GFR in both children and adults and enables diagnosing Shrunken Pore Syndrome.

    Science.gov (United States)

    Leion, Felicia; Hegbrant, Josefine; den Bakker, Emil; Jonsson, Magnus; Abrahamson, Magnus; Nyman, Ulf; Björk, Jonas; Lindström, Veronica; Larsson, Anders; Bökenkamp, Arend; Grubb, Anders

    2017-09-01

    Estimating glomerular filtration rate (GFR) in adults by using the average of values obtained by a cystatin C- (eGFR cystatin C ) and a creatinine-based (eGFR creatinine ) equation shows at least the same diagnostic performance as GFR estimates obtained by equations using only one of these analytes or by complex equations using both analytes. Comparison of eGFR cystatin C and eGFR creatinine plays a pivotal role in the diagnosis of Shrunken Pore Syndrome, where low eGFR cystatin C compared to eGFR creatinine has been associated with higher mortality in adults. The present study was undertaken to elucidate if this concept can also be applied in children. Using iohexol and inulin clearance as gold standard in 702 children, we studied the diagnostic performance of 10 creatinine-based, 5 cystatin C-based and 3 combined cystatin C-creatinine eGFR equations and compared them to the result of the average of 9 pairs of a eGFR cystatin C and a eGFR creatinine estimate. While creatinine-based GFR estimations are unsuitable in children unless calibrated in a pediatric or mixed pediatric-adult population, cystatin C-based estimations in general performed well in children. The average of a suitable creatinine-based and a cystatin C-based equation generally displayed a better diagnostic performance than estimates obtained by equations using only one of these analytes or by complex equations using both analytes. Comparing eGFR cystatin and eGFR creatinine may help identify pediatric patients with Shrunken Pore Syndrome.

  12. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  13. Diagnosing suffering: a perspective.

    Science.gov (United States)

    Cassell, E J

    1999-10-05

    The alleviation of suffering is crucial in all of medicine, especially in the care of the dying. Suffering cannot be treated unless it is recognized and diagnosed. Suffering involves some symptom or process that threatens the patient because of fear, the meaning of the symptom, and concerns about the future. The meanings and the fear are personal and individual, so that even if two patients have the same symptoms, their suffering would be different. The complex techniques and methods that physicians usually use to make a diagnosis, however, are aimed at the body rather than the person. The diagnosis of suffering is therefore often missed, even in severe illness and even when it stares physicians in the face. A high index of suspicion must be maintained in the presence of serious disease, and patients must be directly questioned. Concerns over the discomfort of listening to patients' severe distress are usually more than offset by the gratification that follows the intervention. Often, questioning and attentive listening, which take little time, are in themselves ameliorative. The information on which the assessment of suffering is based is subjective; this may pose difficulties for physicians, who tend to value objective findings more highly and see a conflict between the two kinds of information. Recent advances in understanding how physicians increase the utility of information and make inferences allow one to reliably use the subjective information on which the diagnosis and treatment of suffering depend. Knowing patients as individual persons well enough to understand the origin of their suffering and ultimately its best treatment requires methods of empathic attentiveness and nondiscursive thinking that can be learned and taught. The relief of suffering depends on physicians acquiring these skills.

  14. Reproductive hormone levels and anthropometry in postmenopausal women with polycystic ovary syndrome (PCOS): a 21-year follow-up study of women diagnosed with PCOS around 50 years ago and their age-matched controls.

    Science.gov (United States)

    Schmidt, Johanna; Brännström, Mats; Landin-Wilhelmsen, Kerstin; Dahlgren, Eva

    2011-07-01

    The hormonal and anthropometric profile of premenopausal women with polycystic ovary syndrome (PCOS) is well described, but there is a lack of data concerning changes in these variables into the postmenopausal period. Our objective was to examine whether PCOS women differ from normal women regarding levels of reproductive hormones, anthropometry, and presence of hirsutism/climacteric symptoms also after menopause. In this prospective study, women with PCOS (61-79 yr) and age-matched controls, examined in 1987, were reinvestigated at a university hospital. Twenty-five PCOS patients (Rotterdam criteria) and 68 controls (randomly allocated from the Gothenburg WHO MONICA study) participated. Reexamination and hormonal measurements were done 21 yr after previous visit. FSH, LH, TSH, thyroid peroxidase antibodies, prolactin, estrone, estradiol, SHBG, androstenedione, total testosterone, dehydroepiandrosterone sulfate, free androgen index, and anthropometry were determined. Presence of climacteric symptoms, hirsutism, and menopausal age were recorded. PCOS women had higher free androgen index (P = 0.001) but lower FSH (P PCOS and controls. Women with PCOS reported hirsutism more frequently (P symptoms (P PCOS women differ from controls with regard to levels of certain reproductive hormones also after menopause, but the established premenopausal increase in waist to hip ratio in PCOS patients disappeared after menopause, mainly due to weight gain among controls. A novel finding was the lower prevalence of hypothyroidism in PCOS women.

  15. A CASE OF METABOLIC SYNDROME

    OpenAIRE

    Khoo Ee Ming; Rabia Khatoon

    2006-01-01

    This case report illustrates a 40-year-old woman who presented with chest discomfort that was subsequently diagnosed to have metabolic syndrome. Metabolic syndrome is a common condition associated with increased cardiovascular morbidity and mortality. As primary care providers, we should be detect this condition early, intervene and prevent appropriately before complications occur.

  16. Proteus syndrome: association with gingival hyperplasia.

    Science.gov (United States)

    Arendorf, T M; Hanslo, B

    1995-09-01

    A 9-year old Black boy with gigantism of the hands and feet, and recurrent gingival hyperplasia, diagnosed as Proteus syndrome is presented. The oral manifestations of this syndrome are described. To the best of our knowledge, this is the first reported case of gingival hyperplasia associated with Proteus syndrome.

  17. Identification of nursing management diagnoses.

    Science.gov (United States)

    Morrison, R S

    1997-02-01

    Theories from nursing and management provide frameworks for enhancing effectiveness of nursing management practice. The concept nursing management diagnosis has been developed by integrating nursing diagnosis and organizational diagnosis as a basis for nurse manager decision-making. Method triangulation was used to identify problems of managing nursing units, to validate those problems for relevancy to practice, to generate nursing management diagnoses, and to validate the diagnoses. Diagnoses were validated according to a definition of nursing management diagnosis provided. Of the 72 nursing management diagnoses identified, 66 were validated at a 70% level of agreement by nurse managers participating in the study.

  18. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  19. The clinical usefulness of extravascular lung water and pulmonary vascular permeability index to diagnose and characterize pulmonary edema: a prospective multicenter study on the quantitative differential diagnostic definition for acute lung injury/acute respiratory distress syndrome

    Science.gov (United States)

    2012-01-01

    Introduction Acute lung injury (ALI)/acute respiratory distress syndrome (ARDS) is characterized by features other than increased pulmonary vascular permeability. Pulmonary vascular permeability combined with increased extravascular lung water content has been considered a quantitative diagnostic criterion of ALI/ARDS. This prospective, multi-institutional, observational study aimed to clarify the clinical pathophysiological features of ALI/ARDS and establish its quantitative diagnostic criteria. Methods The extravascular lung water index (EVLWI) and the pulmonary vascular permeability index (PVPI) were measured using the transpulmonary thermodilution method in 266 patients with PaO2/FiO2 ratio ≤ 300 mmHg and bilateral infiltration on chest radiography, in 23 ICUs of academic tertiary referral hospitals. Pulmonary edema was defined as EVLWI ≥ 10 ml/kg. Three experts retrospectively determined the pathophysiological features of respiratory insufficiency by considering the patients' history, clinical presentation, chest computed tomography and radiography, echocardiography, EVLWI and brain natriuretic peptide level, and the time course of all preceding findings under systemic and respiratory therapy. Results Patients were divided into the following three categories on the basis of the pathophysiological diagnostic differentiation of respiratory insufficiency: ALI/ARDS, cardiogenic edema, and pleural effusion with atelectasis, which were noted in 207 patients, 26 patients, and 33 patients, respectively. EVLWI was greater in ALI/ARDS and cardiogenic edema patients than in patients with pleural effusion with atelectasis (18.5 ± 6.8, 14.4 ± 4.0, and 8.3 ± 2.1, respectively; P edema or pleural effusion with atelectasis patients (3.2 ± 1.4, 2.0 ± 0.8, and 1.6 ± 0.5; P edema patients. A PVPI value of 2.6 to 2.85 provided a definitive diagnosis of ALI/ARDS (specificity, 0.90 to 0.95), and a value < 1.7 ruled out an ALI/ARDS diagnosis (specificity, 0.95). Conclusion

  20. Successful pulmonary venous channeling in a case of scimitar syndrome

    International Nuclear Information System (INIS)

    Fatimi, S.; Sheikh, S.; Syed, A.

    2006-01-01

    A young girl child with recurrent pneumonias, failure to thrive and dextroposed heart was diagnosed with and surgically treated for scimitar syndrome. Early diagnosis and treatment of this syndrome prevents serious morbidity. (author)

  1. [PHACES syndrome].

    Science.gov (United States)

    Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

    2010-04-01

    PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

  2. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

  3. Validation of nursing management diagnoses.

    Science.gov (United States)

    Morrison, R S

    1995-01-01

    Nursing management diagnosis based on nursing and management science, merges "nursing diagnosis" and "organizational diagnosis". Nursing management diagnosis is a judgment about nursing organizational problems. The diagnoses provide a basis for nurse manager interventions to achieve outcomes for which a nurse manager is accountable. A nursing organizational problem is a discrepancy between what should be happening and what is actually happening that prevents the goals of nursing from being accomplished. The purpose of this study was to validate 73 nursing management diagnoses identified previously in 1992: 71 of the 72 diagnoses were considered valid by at least 70% of 136 participants. Diagnoses considered to have high priority for future research and development were identified by summing the mean scores for perceived frequency of occurrence and level of disruption. Further development of nursing management diagnoses and testing of their effectiveness in enhancing decision making is recommended.

  4. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... Provider Pocket Guides Provider Guides Fertility Preservation for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed ... Patient Pocket Guides Patient Guides Fertility Preservation for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed ...

  5. Neuroblastoma in Children: Just Diagnosed Information

    Science.gov (United States)

    ... Financial Reports Watchdog Ratings Feedback Contact Select Page Neuroblastoma in Children – Just Diagnosed Home > Cancer Resources > Types ... Diagnosed Just Diagnosed In Treatment After Treatment Diagnosing Neuroblastoma Depending on the location of the tumor and ...

  6. Phenytoin induced pseudolymphoma syndrome

    Directory of Open Access Journals (Sweden)

    Rege V

    1991-01-01

    Full Text Available A 36-year-old female of grandmal epilepsy receiving phenytoin for 8 years presented with generalised asymptomatic polymorphic eruption, constitutional symptoms, lymphadenopathy and hepatosplenomegaly of 15 days duration. The patient was diagnosed as pseudolymphoma syndrome and confirmed by histopathology.

  7. Bladder pain syndrome

    DEFF Research Database (Denmark)

    Hanno, Philip; Nordling, Jørgen; Fall, Magnus

    2011-01-01

    Bladder pain syndrome is a deceptively intricate symptom complex that is diagnosed on the basis of chronic pelvic pain, pressure, or discomfort perceived to be related to the urinary bladder, accompanied by at least one other urinary symptom. It is a diagnosis of exclusion in a patient who has...

  8. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    Science.gov (United States)

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  9. Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

    2014-01-01

    Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

  10. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  11. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  12. Polycystic ovary syndrome and metformin in pregnancy

    DEFF Research Database (Denmark)

    Lilja, Anna E; Mathiesen, Elisabeth R

    2006-01-01

    UNLABELLED: The diagnostic criteria of polycystic ovary syndrome incorporate hyperandrogenism, polycystic ovaries, anovulation and irregular menstrual bleeding and the syndrome is a recognized reason behind infertility. The biguanide metformin has encouraging effects on several metabolic aspects...... of the syndrome, including insulin sensitivity, plasma glucose concentration and lipid profile. Moreover, metformin improves the ovarian function in women diagnosed with polycystic ovary syndrome. Hence, metformin is considered an agent for ovulation induction among these patients. However, even higher ovulation...

  13. Kearns-Sayre syndrome

    Directory of Open Access Journals (Sweden)

    Kavita R Bhatnagar

    2014-01-01

    Full Text Available Kearns-Sayre syndrome (KSS is a rare neuromuscular disorder. We report a case of a 14-year-old boy diagnosed and treated as myasthenia gravis for (4 years who was eventually diagnosed with KSS. He reported to us 3 years after initial presentation of mild drooping of eyelids with increased severity of ptosis, bilateral external ophthalmoplegia, and atypical retinitis pigmentosa. On multispecialty consultation, he was found to have right bundle branch block, wasting and weakness of limb muscles, and hearing loss. Sartorius muscle biopsy revealed ragged red fibres on trichrome stain. All these findings confirmed the diagnosis of Kearns-Sayre Syndrome (KSS. The take home message is to have a high index of suspicion for KSS when encountering cases of musculoskeletal disorders in subjects below 20 years of age in view of high morbidity and mortality associated with this syndrome.

  14. Wolfram Syndrome. Case report.

    Science.gov (United States)

    Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech

    2016-01-01

    Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

  15. How Are Learning Disabilities Diagnosed?

    Science.gov (United States)

    ... Research Information Research Goals Activities and Advances Scientific Articles Find a Study Resources and Publications For Patients and Consumers For Researchers and Health Care Providers Home Health A to Z List Learning Disabilities Condition Information How is it diagnosed? Share ...

  16. Common Diagnoses in the NICU

    Science.gov (United States)

    ... breakdown of blood cells, and the liver usually "recycles" it back into the body). Although mild jaundice ... brain). However, PVL can happen without any previous history of bleeding. How is it diagnosed? Often no ...

  17. How to diagnose cardiac tamponade

    NARCIS (Netherlands)

    van Steijn, JHM; Sleijfer, DT; van der Graaf, WTA; van der Sluis, A; Nieboer, P

    Malignant pericardial effusion is a potentially fatal complication of malignancy unless recognised and treated promptly. Patients with this condition are often difficult to diagnose. Physical examination, chest radiography and electrocardiography have poor diagnostic values in identification of

  18. A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele

    Science.gov (United States)

    Cavaliere, Alessandro; Dinatale, Angela; Cardinale, Giovanna; Ermito, Santina; La Galia, Tindara; Circosta, Barbara; Imbruglia, Laura; Rapisarda, Giusi

    2009-01-01

    Objective: Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. Methods: We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele Conclusion: First trimester diagnosis of sirenomielia is possible and early diagnosis gives the parents the option of early pregnancy termination PMID:22439043

  19. A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele.

    Science.gov (United States)

    Cavaliere, Alessandro; Dinatale, Angela; Cardinale, Giovanna; Ermito, Santina; La Galia, Tindara; Circosta, Barbara; Imbruglia, Laura; Rapisarda, Giusi

    2009-07-01

    Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele First trimester diagnosis of sirenomielia is possible and early diagnosis gives the parents the option of early pregnancy termination.

  20. Wells syndrome and its relationship to Churg-Strauss syndrome.

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

      Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

  1. The Greig cephalopolysyndactyly syndrome

    Directory of Open Access Journals (Sweden)

    Biesecker Leslie G

    2008-04-01

    Full Text Available Abstract The Greig cephalopolysyndactyly syndrome (GCPS is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or

  2. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  3. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  4. Fibromyalgia revisited: the challenge to a diagnoses remains

    Directory of Open Access Journals (Sweden)

    José Eduardo Martinez

    2010-12-01

    Full Text Available ABSTRACT Fibromyalgia is a clinical syndrome characterized by widespread musculoskeletal pain associated with areas of the body known as tender points which, when pressured gently, cause an exaggerated pain response. The most accepted physiopathological theory is that the pain in fibromyalgia results from an unbalance between the pain transmission stimulus mechanism and the pain inhibition one. The symptoms range from widespread musculoskeletal pain; disruptive sleep patterns; fatigue; short-lived generalized stiffness (generally in the morning; edema sensation and paresthesia. There is a constant association with other functional syndrome such as: depression, anxiety, migraine and irritable bowel syndrome. In 1990 The American College of Rheumatology developed a set of criteria to diagnose fibromyalgia and include it in scientific studies so as to help with the upcoming of a patient´s diagnosis and its follow up.

  5. Diagnoser

    DEFF Research Database (Denmark)

    Waaddegaard, Mette; Lau, Marianne Engelbrecht; Schousboe, Birgitte Hartvig

    2012-01-01

    Spiseforstyrrelser er psykiske sygdomme, hvor forholdet til mad, krop og spisning er så forstyrret, at det går ud over ens sundhed og sociale liv. Man skelner typisk mellem anoreksi, bulimi og tvangsoverspisning, men der findes næsten lige så mange kombinationer af spiseforstyrrelsessymptomer, som...

  6. Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

    Science.gov (United States)

    Tokita, Mari J; Sybert, Virginia P

    2016-05-01

    High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism. © 2016 Wiley Periodicals, Inc.

  7. [Subclinical and established kidney disease in recently diagnosed hypertensive patients].

    Science.gov (United States)

    Gómez-Marcos, Manuel Angel; Martínez-Salgado, Carlos; Grandes, Gonzalo; Recio-Rodríguez, José Ignacio; Castaño Sánchez, Yolanda; Rodríguez Sánchez, Emiliano; García-Ortiz, Luis

    2010-03-06

    To estimate renal disease in recently diagnosed hypertensive patients, and to identify factors related to renal disease. Cross-sectional study, with 425 hypertensive patients recently diagnosed in primary health care; renal disease was estimated with serum creatinine, albumin/creatinine index and glomerular filtration rate (GFR). We analyzed cardiovascular risk factors (CRF), subclinical organ injury and cardiovascular disease following the criteria of the 2007 European Guide of Hypertension. Average age: 58,96 +/- 12,73 years old, 63,3% male. We found dyslipemia in 80%, abdominal obesity in 49% and metabolic syndrome in 36% patients. These patients showed increased serum creatinine 3,3%, a reduction in GFR 9,6%, hidden renal disease 6,4%, microalbuminuria 7,5% and nephropathy 2,4%. Hypertensive patients with renal disease (17,88%) were older, with higher systolic pressure, higher incidence of metabolic syndrome, abnormal carotid intima-media thickness and ankle-arm index, and presence of cardiovascular disease. Variables associated with renal disease were metabolic syndrome (odds ratio = 11,12) and ankle-arm index (odds ratio = 17,55). Variables related to creatinina were sex, ankle-arm index and metabolic syndrome; variables related to GFR were sex, age, ankle-arm index, metabolic syndrome and body mass index (BMI); variables related with albumin/creatinine index included diabetes mellitus. Renal disease is detected in about 2 out of 10 hypertensive patients, when, besides serum creatinina, we analyze albumin/creatinine index and GFR. Metabolic syndrome and ankle-arm index are the main variables associated with renal disease. Copyright 2009 Elsevier España, S.L. All rights reserved.

  8. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander

    2013-01-01

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...... with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent...... clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...

  9. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...

  10. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  11. Nursing diagnoses in overweight adolescents

    Directory of Open Access Journals (Sweden)

    Raphaela Santos do Nascimento Rodrigues

    2013-05-01

    Full Text Available This study aimed to identify nursing diagnoses in overweight adolescents from public schools, according to the International Classification for Nursing Practice. A population-based cross-sectional study that investigated the socio-demographic, behavioural and psychological characteristics of adolescents aged from 10 to 14 years. 11 nursing diagnoses were identified: "Risk of overweight", "Risk of impaired adolescent development", "Risk of insecurity in parental role performance", "Risk of the family impaired ability to manage diet regime", "Risk of impaired ability to manage diet regime", "Risk of lack of knowledge of dietary regime", "Risk of excess food intake", "Risk of negative self-image", "Risk of low self-esteem", "Risk of impaired social well-being" and "Impaired exercise pattern". These diagnoses reflect the multifactorial nature of obesity, highlighting the need for interdisciplinary and intersectoral articulation of nursing interventions for prevention and control of overweight.

  12. Gaucher's disease diagnosed by splenectomy.

    Science.gov (United States)

    Adas, Mine; Adas, Gokhan; Karatepe, Oguzhan; Altiok, Merih; Ozcan, Deniz

    2009-08-01

    Splenectomy continues to find common therapeutic indications for hematologic disorders. In addition, recently it is also performed in surgical clinics to assist diagnose of some illnesses. Gaucher's disease, especially Type I, is the most frequently encountered lysosomal storage disorder in man. Manifestations of it are highly variable. The most frequently found symptoms include splenomegaly with anaemia and thrombocytopenia, mostly due to hypersplenism, hepatomegaly and bone disease. Four patients were reported in the present study. Three of them were easily diagnosed with Gaucher's disease via bone marrow cytology, and one with Gaucher's disease was detected by pathological examination following the splenectomy. For the pouse of diagnosis of the Gaucher's disease, performing surgery is generally not necessary. However, for the cases of difficult to diagnose by classical methods, the corect diagnosis of Gaucher's disease can only be made by a special operation.

  13. Psychiatric diagnoses, trauma, and suicidiality

    Directory of Open Access Journals (Sweden)

    Elklit Ask

    2007-04-01

    Full Text Available Abstract Background This study aimed to examine the associations between psychiatric diagnoses, trauma and suicidiality in psychiatric patients at intake. Methods During two months, all consecutive patients (n = 139 in a psychiatric hospital in Western Norway were interviewed (response rate 72%. Results Ninety-one percent had been exposed to at least one trauma; 69 percent had been repeatedly exposed to trauma for longer periods of time. Only 7% acquired a PTSD diagnosis. The comorbidity of PTSD and other psychiatric diagnoses were 78%. A number of diagnoses were associated with specific traumas. Sixty-seven percent of the patients reported suicidal thoughts in the month prior to intake; thirty-one percent had attempted suicide in the preceding week. Suicidal ideation, self-harming behaviour, and suicide attempts were associated with specific traumas. Conclusion Traumatised patients appear to be under- or misdiagnosed which could have an impact on the efficiency of treatment.

  14. Correlation of antemortem diagnoses and postmortem diagnoses in ...

    African Journals Online (AJOL)

    Background: The postmortem examination is a veritable means of ascertaining the correct diagnoses. Over the years, there has been a severe drop in the number of requests for postmortem examination despite its numerous advantages and benefits. The study is aimed at showing the pivotal role of the autopsy in medical ...

  15. Elsberg syndrome

    Science.gov (United States)

    Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

    2017-01-01

    Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

  16. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  17. Immunological methods for diagnosing neurocysticercosis

    Energy Technology Data Exchange (ETDEWEB)

    Kuhn, R.E.; Estrada, J.J.; Grogl, M.

    1989-01-31

    A method is described for diagnosing active human neurocysticercosis by detecting the presence of at least one Taenia solium larval antigen in cerebrospinal fluid, which comprises: contacting cerebrospinal fluid from a human to be diagnosed with a solid support, wherein the support binds with a Taenia solium larval antigen if present, contacting the support with a first antibody, wherein the first antibody binds with a larval Taenia solium antigen if present in the cerebrospinal fluid, contacting the solid support with a detectable second antibody which will bind with the first antibody, and detecting the second antibody bound to the support.

  18. Senior-Loken Syndrome in a Saudi Child

    Directory of Open Access Journals (Sweden)

    AlFadhel Majid

    2008-01-01

    Full Text Available Senior-Loken syndrome is a rare syndrome of retinopathy and nephrono-phthisis. The clinical features of this syndrome include renal involvement, ocular involve-ment, retinitis pigmentosa and other systemic involvement. We describe an 11-year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from the Arabian Peninsula.

  19. Prolapse of all cardiac valves in Noonan syndrome

    OpenAIRE

    Otikunta, Adikesava Naidu; Subbareddy, Y V; Polamuri, Praneeth; Thakkar, Ashok

    2015-01-01

    Noonan syndrome is an autosomal dominant disorder with genetically heterogeneous inheritance. The incidence of cardiac abnormalities is higher in patients with Noonan syndrome and approximately 80% patients with Noonan syndrome are reported to have cardiac abnormalities during their lifetimes. However, polyvalvular disease in Noonan syndrome is rare. In this case-report, we describe a case of a young man whose features were strongly suggestive of Noonan syndrome and who was diagnosed with pro...

  20. How Do Health Care Providers Diagnose Fragile X Syndrome?

    Science.gov (United States)

    ... What are the treatments? » Related A-Z Topics Autism Spectrum Disorder (ASD) Intellectual and Developmental Disabilities (IDDs) NICHD News and Features Getting to Know the New NICHD Director Resources to Help Families and Physicians Spot Early Signs of Autism NIH ...

  1. Psychiatric Diagnoses in Individuals with Non-Syndromic Oral Clefts

    DEFF Research Database (Denmark)

    Pedersen, Dorthe Almind; Wehby, George L; Murray, Jeffrey C

    2016-01-01

    for 247,821 person-years, and 85,653 individuals without OC followed for 2,501,129 person-years. RESULTS: A total of 953 (11.1%) of the individuals with OC (9.6% for cleft lip (CL), 10.8% for cleft lip and palate (CLP) and 13.1% for cleft palate (CP)) and 8,117 (9.5%) in the comparison group had at least...... one psychiatric diagnosis. Cox proportional hazard regression model revealed that individuals with OC had significantly higher risk of a psychiatric diagnosis (hazard ratio (HR) = 1.19, 95% CI: 1.12-1.28). When examining cleft type, no difference was found for CL (HR = 1.03, 95% CI: 0.......90-1.17), but CLP was associated with a small increased risk (HR = 1.13, 95% CI: 1.01-1.26), whereas individuals with CP had the largest increased risk (HR = 1.45, 95% CI: 1.30-1.62). The largest differences were found in schizophrenia-like disorders, mental retardation and pervasive developmental disorders, but we...

  2. An under-diagnosed geriatric syndrome: sleep disorders among ...

    African Journals Online (AJOL)

    This cycle takes almost 90-100 minutes2. Sleep patterns change with aging. Melatonin releasing .... sleeping pill at least once in their lives. ... Any difficulties falling asleep? YES .... in lifestyle and pharmacologic approaches . Learning points.

  3. How Do Health Care Providers Diagnose Prader-Willi Syndrome?

    Science.gov (United States)

    ... OGH) Office of Health Equity (OHE) Office of Legislation and Public Policy (OLPP) Office of Science Policy, ... K., Adam, M. P. (Eds.). Gene reviews . Seattle, WA: University of Washington. Retrieved June 13, 2012, from ...

  4. A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

    Science.gov (United States)

    Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

    2014-07-01

    To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

  5. [Syndrome X vs metabolic syndrome].

    Science.gov (United States)

    Morales Villegas, Enrique

    2006-01-01

    Himsworth in 1939 postulated that Diabetes Mellitus type 2 (DM2) was not only an insulin deficiency state but also a cellular insulin insensitivity disease. Thirty years later, DeFronzo and Reaven demonstrated that insulin resistance (IR) preceded and predisposed for DM2 and atherosclerotic-cardiovascular-disease (ACVD). Reaven was the first to point out the relationship between IR and with hyperglycemia, dyslipidosis, and hypertension as mediators for ACVD, creating the concept of Syndrome X (SX) in 1988. WHO and, thereafter, other medical societies and medical groups, mainly ATP-III, in 2002, based on the difficulty of diagnosing IR in a simple, reliable, and inexpensive way, proposed and published the Metabolic Syndrome (MS) concept, as a group of five variables, i.e., obesity, hyperglycemia, hypertriglyceridemia, low HDL, and hypertension, as an easy clinical approximation to suspect and treat an increased cardiometabolic risk. Nowadays, there are deep and extensive controversies on this issue; however, these controversies do not really exist since all discordant points of view are rather quantitative and not qualitative in nature. This article is aimed at differentiating and harmonizing the complementary concepts of SX and MS, at analyzing why MS is a good "clinical window" to look for IR and its underlying manifestations, and finally to accept that the MS concept complements, but does not substitute or antagonize, traditional scales used to asses cardiovascular risk, such as the Framingham scale.

  6. Diagnoses and interventions in podiatry.

    NARCIS (Netherlands)

    Zuijderduin, W.M.; Dekker, J.

    1996-01-01

    In the present study a quantitative description is given of diagnoses and interventions in podiatry. Data are used from a survey on podiatry practice in The Netherlands. Data have been recorded by 36 podiatrists on 897 patients. Information was gathered on patient characteristics, the medical

  7. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    N K Kiran

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  8. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

    Science.gov (United States)

    Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

    2012-10-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  9. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... You are here Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation for Children Diagnosed with Cancer Ask Your Doctor Information for ...

  10. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation for Children Diagnosed with Cancer Ask Your Doctor Information for Patients Many adult ...

  11. Lemierre's Syndrome Complicating Pregnancy

    Directory of Open Access Journals (Sweden)

    M. Thompson

    2007-01-01

    Full Text Available Lemierre's syndrome is an anaerobic suppurative thrombophlebitis involving the internal jugular vein secondary to oropharyngeal infection. There is only one previous case report in pregnancy which was complicated by premature delivery of an infant that suffered significant neurological damage. We present an atypical case diagnosed in the second trimester with a live birth at term. By reporting this case, we hope to increase the awareness of obstetricians to the possibility of Lemierre's syndrome when patients present with signs of unabating oropharyngeal infection and pulmonary symptoms.

  12. The use of droplet digital PCR in liquid biopsies: A highly sensitive technique for MYD88 p.(L265P) detection in cerebrospinal fluid.

    Science.gov (United States)

    Hiemcke-Jiwa, Laura S; Minnema, Monique C; Radersma-van Loon, Joyce H; Jiwa, N Mehdi; de Boer, Mirthe; Leguit, Roos J; de Weger, Roel A; Huibers, Manon M H

    2018-04-01

    The gold standard for diagnosis of central nervous system lymphomas still regards a stereotactic brain biopsy, with the risk of major complications for the patient. As tumor cells can be detected in cerebrospinal fluid (CSF), CSF analysis can be used as an alternative. In this respect, mutation analysis in CSF can be of added value to other diagnostic parameters such a cytomorphology and clonality analysis. A well-known example of targeted mutation analysis entails MYD88 p.(L265P) detection, which is present in the majority of Bing Neel syndrome and primary central nervous system lymphoma (PCNSL) patients. Unfortunately, tumor yield in CSF can be very low. Therefore, use of the highly sensitive droplet digital PCR (ddPCR) might be a suitable analysis strategy for targeted mutation detection. We analyzed 26 formalin fixed paraffin embedded (FFPE) samples (8 positive and 18 negative for MYD88 p.(L265P) mutation) by ddPCR, of which the results were compared with next generation sequencing (NGS). Subsequently, 32 CSF samples were analyzed by ddPCR. ddPCR and NGS results on FFPE material showed 100% concordance. Among the 32 CSF samples, 9 belonged to patients with lymphoplasmacytic lymphoma (LPL) and clinical suspicion of Bing Neel syndrome, and 3 belonged to patients with PCNSL. Nine of these samples tested positive for MYD88 p.(L265P) (8 LPL and 1 PCNSL). This study shows that sensitive MYD88 mutation analysis by ddPCR in CSF is highly reliable and can be applied even when DNA input is low. Therefore, ddPCR is of added value to current diagnostic parameters, especially when the available amount of DNA is limited. Copyright © 2017 John Wiley & Sons, Ltd.

  13. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  14. A Case with Cowden Syndrome

    Directory of Open Access Journals (Sweden)

    Nehir Parlak

    2015-06-01

    Full Text Available Cowden syndrome is an autosomal dominant rare inherited disorder characterized by multiple hamartomas in variety of tissues from all three embryonic layers. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules, also macrocephaly and malignancies including breast, tyhroid and endometrial carcinoma are hallmark of the disease. Here we report a 47-year-old male patient with mucucutaneous lesions, gastrointestinal polyposis and macrocephaly diagnosed as Cowden syndrome.

  15. IRRITATED BOWEL SYNDROME IN CHILDREN

    Directory of Open Access Journals (Sweden)

    V. F. Privorotskiy

    2012-01-01

    Full Text Available Irritated bowel syndrome is a significant and underestimated problem in childhood. This condition is not so good studied in pediatrics in comparison with adult practice. Pediatricians often diagnosed this disease in infants and young children without proper reasons. The authors analyze current opinions about etiology and pathogenesis, clinical presentation, diagnosticsand treatment of irritated bowel syndrome in children. An emphasis is made on diagnostic criteria, which allow suggesting and confirming the diagnosis.

  16. Benedikt's Syndrome: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Aslı Aksoy Gundogdu

    2017-08-01

    Full Text Available Benedikt syndrome is a rare midbrain syndrome which is associated with the damage of the median mesencephalic tegmentum. The most common etiology of this syndrome is ischemic stroke. The occlusion of the posterior cerebral artery or the paramedian branches of the basilar artery results with the ischemia of this midbrain territory. Ipsilateral occulomotor cranial nerve palsy, contralateral hemiparesis, hemihypoesthesia, hemiataxia and korea or tremor are the clinical symptoms of this syndrome. In this article, we reported a case of Benedikt syndrome with an etiologic cause of cardioembolic stroke, who was diagnosed by the neurological examination and neuroradiological findings.

  17. How to diagnose acute appendicitis

    DEFF Research Database (Denmark)

    Mostbeck, Gerhard; Adam, E Jane; Nielsen, Michael Bachmann

    2016-01-01

    appendicitis (AA). • Primary US for AA diagnosis will decrease ionizing radiation and cost. • Sensitivity of US to diagnose AA is lower than of CT/MRI. • Non-visualization of the appendix should lead to clinical reassessment. • Complementary MRI or CT may be performed if diagnosis remains unclear....... and complementary imaging with MRI/CT if indicated. Accordingly, both ionizing radiation to our patients and cost of pre-therapeutic diagnosis of AA will be low, with low negative appendectomy and perforation rates. Main Messages • Ultrasound (US) should be the first imaging modality for diagnosing acute...... specificity both in the paediatric and adult patient populations. As US sensitivity is limited, and non-diagnostic US examinations with non-visualization of the appendix are more a rule than an exception, diagnostic strategies and algorithms after non-diagnostic US should focus on clinical reassessment...

  18. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Diagnosis

    Science.gov (United States)

    ... Controls Search Form Controls Cancel Submit Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Note: Javascript is disabled or is not supported ... Facebook Tweet Share Compartir To diagnose myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), a patient’s doctor or healthcare provider ...

  19. Delirium followed by neuroleptic malignant syndrome in ...

    African Journals Online (AJOL)

    Delirium and neuroleptic malignant syndrome (NMS) are two uncommon syndromes that are often unrecognized or misdiagnosed by the primary physicians as functional psychiatric disorders. The infrequency and the heterogeneity of clinical manifestation, progression and outcome with which those diagnoses are ...

  20. Prader-Willi Syndrome: Two Case Studies.

    Science.gov (United States)

    Bahling, Elizabeth F.

    1979-01-01

    Prader-Willi Syndrome, also called "the eating disease", is a low-incidence handicap which cannot be diagnosed in infancy. Most adults reported in the literature are institutionalized and profoundly retarded. A study of the diagnosis and intervention of two Prader-Willi Syndrome children is presented. (Author/JKS)

  1. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  2. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  3. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  4. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  5. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  6. Bartter syndrome: presentation in an extremely premature neonate.

    Science.gov (United States)

    Flores, F X; Ojeda, F J; Calhoun, D A

    2013-08-01

    Reports of Bartter syndrome in premature neonates are rare. We describe the presentation and clinical course of a neonate born at 25.6 weeks estimated gestational age with polyuria, hyponatremia, hypokalemia and hypercalciuria ,who was diagnosed with neonatal Bartter syndrome. The evaluation, diagnosis and management of neonatal Bartter syndrome in this premature neonate are discussed.

  7. Bladder pain syndrome

    DEFF Research Database (Denmark)

    Hanno, Philip; Nordling, Jørgen; Fall, Magnus

    2011-01-01

    Bladder pain syndrome is a deceptively intricate symptom complex that is diagnosed on the basis of chronic pelvic pain, pressure, or discomfort perceived to be related to the urinary bladder, accompanied by at least one other urinary symptom. It is a diagnosis of exclusion in a patient who has ex...... can be challenging, and misdiagnosis as a psychological problem, overactive bladder, or chronic urinary infection has plagued patients with the problem....

  8. Diagnósticos de enfermagem identificados em idosos hospitalizados: associação com as síndromes geriátricas Diagnósticos de enfermería identificados en ancianos hospitalizados: asociación con las síndromes geriátricas Nursing diagnoses identified in hospitalized elderly: association with geriatrics' syndromes

    Directory of Open Access Journals (Sweden)

    Renata Miranda de Sousa

    2010-12-01

    promedio dos síndromes se producen en personas de edad avanzada, aumentando el riesgo de debilidad, y por lo tanto la probabilidad de complicaciones, mayor costo, y las readmisiones. CONCLUSIÓN: Por lo tanto la atención de enfermería para ancianos hospitalizados dirigidas a facilitar la identificación de riesgos potenciales, con el fin de propiciar la independencia y el mantenimiento de la autonomía, para reducir las complicaciones, el tiempo de hospitalización y futuros reingresos.OBJECTIVE: Identify and analyze the nursing diagnoses relates to the presence of geriatric syndromes in hospitalized elderly. METHODS: This is a study of a quantitative approach, using researching techniques, semi-structured interviews and specific forms from gerontology. The subjects were 66 individuals over 65 years old, admitted to the clinical and surgical units of the University Hospital Antonio Pedro, Niterói-RJ, Brazil. RESULTS: We identified 394 nursing diagnoses related to five major geriatric syndromes, Social Isolation 129 (32,8%, Iatrogenic 113 (28,6%, Postural Instability 81 (20,6% Cerebral Insufficiency 44 (11,1%, and Urinary Incontinence 27 (6,9%. DISCUSSION: We can infer that on average two syndromes occur in elderly, increasing the risk of weakness, and consequently the likelihood of complications, increased cost, and re-admissions. CONCLUSION: Therefore nursing care for hospitalized elderly should be directed to facilitate the identification of potential risks, in order to promote independence and the maintenance of autonomy, to reduce complications, hospitalization time and future re-admissions.

  9. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  10. Roentgenologic abnormalities in Down's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Higuchi, Takehiko; Russell, W J; Komatsuda, Michio; Neriishi, Shotaro

    1968-07-25

    Roentgenograms of 28 patients with Down's syndrome were reviewed with emphasis on all previously reported abnormalities and any possible additional ones. Most of the abnormalities occurred with the same frequency as previously reported, but some less frequently reported findings were also seen. One abnormal vertebral measurement found in this series may be an additional stigma of Down's syndrome. All of the 27 cases studied cytogenetically had chromosomal abnormalities consistent with this disease. This study emphasizes the need for roentgenologic norms for the Japanese, and the desirability of combining chromosome studies with roentgenological abnormalities and clinical observations in diagnosing Down's syndrome. 19 references, 2 figures, 5 tables.

  11. Fever-Induced Brugada Syndrome

    Directory of Open Access Journals (Sweden)

    Sandhya Manohar MD

    2015-03-01

    Full Text Available Brugada syndrome is increasingly recognized as a cause of sudden cardiac death. Many of these patients do not get diagnosed due its dynamic and often hidden nature. We have come a long way in understanding the disease process, and its electrophysiology appears to be intimately linked with sodium channel mutations or disorders. The cardiac rhythm in these patients can deteriorate into fatal ventricular arrhythmias. This makes it important for the clinician to be aware of the conditions in which arrhythmogenicity of Brugada syndrome is revealed or even potentiated. We present such an instance where our patient’s Brugada syndrome was unmasked by fever.

  12. Performance of long-term CT monitoring in diagnosing bronchiolitis obliterans after lung transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Berstad, Audun E. [Department of Radiology, Rikshospitalet University Hospital, Sognsvannsveien 20, N-0027 Oslo (Norway)]. E-mail: a.e.berstad@medisin.uio.no; Aalokken, Trond Mogens [Department of Radiology, Rikshospitalet University Hospital, Sognsvannsveien 20, N-0027 Oslo (Norway); Kolbenstvedt, Alf [Department of Radiology, Rikshospitalet University Hospital, Sognsvannsveien 20, N-0027 Oslo (Norway); Bjortuft, Oystein [Department of Thoracic Medicine, Rikshospitalet University Hospital, Sognsvannsveien 20, N-0027 Oslo (Norway)

    2006-04-15

    Aim: The purpose of the study was to evaluate the ability of CT, including expiratory scans with minimum intensity projection in predicting the development of bronchiolitis obliterans syndrome after lung transplantation. Materials and methods: Forty consecutive patients, 29 bilateral and 11 single lung transplanted, were followed-up with regular scans for a median of 36 months. Air trapping was evaluated on expiratory scans constructed from two short spiral scans with minimum intensity projection-technique, one at the level of the carina and the other midway between the right diaphragm and the carina. Air trapping was scored on a 16-point scale. Bronchiolitis obliterans syndrome was diagnosed according to established clinical criteria and quantified spirometrically. Results: Bronchiolitis obliterans syndrome developed in 17 patients (43%) after a median of 12 months. Air trapping and bronchiectasis was seen before the diagnosis of bronchiolitis obliterans syndrome in only two and one patient, respectively. Interobserver agreement for air trapping score was good (kappa = 0.65). Air trapping scores performed significantly better than that achieved by chance alone in determining the presence of bronchiolitis obliterans syndrome (P = 0.0025). An air trapping score of 4 or more provided the best results with regard to sensitivity and specificity in diagnosing bronchiolitis obliterans syndrome. The sensitivity, specificity, positive and negative predictive values of an air trapping of 4 or more in the diagnosis of bronchiolitis obliterans syndrome were 77, 74, 68 and 81%, respectively. Conclusion: Expiratory CT scans with minimum intensity projection-reconstruction did not predict the development of bronchiolitis obliterans syndrome in most patients. The findings seriously limit the clinical usefulness of long-term CT monitoring for diagnosing bronchiolitis obliterans syndrome after lung transplantation.

  13. Validation of epilepsy diagnoses in the Danish National Hospital Register

    DEFF Research Database (Denmark)

    Christensen, Jakob; Vestergaard, Mogens; Olsen, Jørn

    2007-01-01

    PURPOSE: To validate the diagnosis of epilepsy in the Danish National Hospital Register. METHODS: We randomly selected 200 patients registered with epilepsy in the Danish National Hospital Register between 1977 and 2002 and validated the diagnosis according to the guidelines developed...... by the International League Against Epilepsy. RESULTS: We reviewed the medical records of 188 (94%) persons from 57 departments at 41 hospitals. The epilepsy diagnoses were confirmed in 153 patients, providing a positive predictive value for epilepsy of 81% (95% confidence interval (95% CI): 75-87%). Among the 35...... for syndrome classification was 60% (95% CI: 44-74%) for epilepsy with complex focal seizures and 35% (95% CI: 22-51%) for primary generalized epilepsy. CONCLUSION: The validity of the epilepsy diagnoses in the Danish National Hospital Register has a moderate to high positive predictive value for epilepsy...

  14. Different Pathophysiological Phenotypes among Newly Diagnosed Type 2 Diabetes Patients

    DEFF Research Database (Denmark)

    Stidsen, Jacob

    2013-01-01

    Type 2 diabetes (T2D) can be considered a syndrome with several different pathophysiological mechanisms leading to hyperglycemia. Nonetheless, T2D is treated according to algorithms as if it was one disease entity. Methods: We investigated the prevalence of different pathophysiological phenotypes...... or secondary diabetes), classic obesity-associated insulin resistant diabetes ( f-P-C-peptide >= 568 pmol/l) and a normoinsulinopenic group (333 age of our new T2D patients was 61 years (range 21-95 years), 57% were men. We found that 3.0% newly diagnosed T2D patients...... suffered from LADA, 3.9% from secondary diabetes, 6.0% from steroid induced diabetes 5.9% had insulinopenic diabetes, whereas 56.7% presented the classic obesity-associated insulin-resistant phenotype. 24.6% was classified as normoinsulinopenic patients. Conclusion: We conclude that newly diagnosed T2D...

  15. [Constitutional mismatch repair deficiency syndrome].

    Science.gov (United States)

    Jongmans, Marjolijn C; Gidding, Corrie E; Loeffen, Jan; Wesseling, Pieter; Mensenkamp, Arjen; Hoogerbrugge, Nicoline

    2015-01-01

    Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.

  16. Turner syndrome with primary hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Jungmee Park

    2013-06-01

    Full Text Available Turner syndrome has multiple comorbidities such as osteoporosis, obesity, diabetes, hypothyroidism, and hypertension. As they are treatable conditions in Turner syndrome, early recognition and proper treatment should be needed. We report on a 23-year-old woman with Turner syndrome who presented with severe osteoporosis and hypercalcemia. Laboratory tests showed elevated levels of serum calcium and parathyroid hormone. Dual-energy X-ray absorptiometry showed severe osteopo-rosis (z score, -3.5. Ultrasound and 99mTc scintigraphy of parathyroid glands showed an adenoma in the right inferior gland. She was diagnosed with primary hyperparathyroidism due to an adenoma of the parathyroid gland. After excision of the adenoma, the patient's serum calcium and parathyroid hormone levels returned to normal. Although only a few cases of Turners syndrome with primary hyperparathyroidism have been reported, hyperparathyroidism should be considered in cases of Turner syndrome with severe osteoporosis and hypercalcemia.

  17. Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor

    Science.gov (United States)

    Smith, Desmond J.; Rubin, Edward M.

    2000-01-01

    A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation.

  18. Association between Michelin tire baby syndrome and congenital panhyopituitarism in an Iranian girl.

    Science.gov (United States)

    Haghshenas, Zahra; Tajziehchi, Leila; Ghavami, Fakhredin

    2014-08-01

    Michelin tire baby syndrome is a rare syndrome, diagnosed clinically by multiple circumferential skin folds. Multiple noncutaneous anomalies have been described with this syndrome. We report a case of Michelin tire baby syndrome with congenital panhypopituitarism. To date, there is no report of association between these two disorders.

  19. Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?

    Science.gov (United States)

    Roze, Emmanuel; Cochen, Valérie; Sangla, Sophie; Bienvenu, Thierry; Roubergue, Anne; Leu-Semenescu, Smaranda; Vidaihet, Marie

    2007-02-15

    Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.

  20. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    S Manjima

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  1. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.

    Science.gov (United States)

    Manjima, S; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

    2015-03-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  2. Klinefelter's syndrome and liver adenoma

    NARCIS (Netherlands)

    Beuers, U.; RICHTER, W. O.; RITTER, M. M.; WIEBECKE, B.; SCHWANDT, P.

    1991-01-01

    We describe the occurrence of a liver adenoma in a young patient with Klinefelter's syndrome, diagnosed by classic 47,XXY karyotype in all investigated cells and a sex hormone imbalance. To our knowledge, this is the first report of such an association, which might suggest a simple coincidence.

  3. The role of radiotherapy in the management of POEMS syndrome

    OpenAIRE

    Suh, Yang-Gun; Kim, Young-Suk; Suh, Chang-Ok; Kim, Yu Ri; Cheong, June-Won; Kim, Jin Seok; Cho, Jaeho

    2014-01-01

    Background POEMS syndrome is a paraneoplastic syndrome caused by an underlying plasma cell proliferative disease. In this study, we examined the treatment outcomes and role of radiotherapy in the management of POEMS syndrome. Methods In total, 33 patients diagnosed with POEMS syndrome were analyzed. These patients presented with osteosclerotic myeloma (OSM, n = 13), Castleman’s disease (CD, n = 4), OSM with CD (n = 10), and vascular endothelial growth factor elevation without gross lesions (V...

  4. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype

    DEFF Research Database (Denmark)

    Bygum, Anette; Westermark, Per; Brandrup, Flemming

    2008-01-01

    Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediately aft...... in the stratum corneum and stratum granulosum. Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period....

  5. Diagnosing Diabetes and Learning about Prediabetes

    Science.gov (United States)

    ... Listen En Español Diagnosing Diabetes and Learning About Prediabetes There are several ways to diagnose diabetes. Each ... or equal to 200 mg/dl What is Prediabetes? Before people develop type 2 diabetes, they almost ...

  6. Psychosomatic syndromes and anorexia nervosa

    Directory of Open Access Journals (Sweden)

    Abbate-Daga Giovanni

    2013-01-01

    Full Text Available Abstract Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN, few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63% and alexithymia (54.6% resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%, somatization group (26%, and severe psychosomatic group (25%. The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments.

  7. Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type) : it is a challenge

    NARCIS (Netherlands)

    Scheper, Mark C; de Vries, Janneke E; Verbunt, Jeanine; Engelbert, Raoul HH

    2015-01-01

    Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH

  8. Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge

    NARCIS (Netherlands)

    Scheper, Mark C.; de Vries, Janneke E.; Verbunt, Jeanine; Engelbert, Raoul H. H.

    2015-01-01

    Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in >= 4 joints over a period >= 3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition,

  9. Metabolic syndrome presenting as abdominal pain

    Directory of Open Access Journals (Sweden)

    Mohammed Y Al-Dossary

    2017-01-01

    Full Text Available Metabolic syndrome represents a sum of risk factors that lead to the occurrence of cardiovascular and cerebrovascular events. The early detection of metabolic syndrome is extremely important in adults who are at risk. Although the physiopathological mechanisms of the metabolic syndrome are not yet clear, insulin resistance plays a key role that could explain the development of type 2 diabetes mellitus in untreated metabolic syndrome patients. Here, we present the case of a 26-year-old male who was diagnosed with metabolic syndrome and severe hypertriglyceridemia after presenting with abdominal pain. Although hypertriglyceridemia and hyperglycemia are the most common predictors of metabolic syndrome, clinicians need to be vigilant for unexpected presentations in patients at risk for metabolic syndrome. This case sheds light on the importance of early detection.

  10. Facet joint syndrome

    International Nuclear Information System (INIS)

    Zigrai, M.; Zakovic, J.; Brezinova, M.; Pavlovicova, M.

    2002-01-01

    It is the purpose of the study to demonstrate the clinical relevance of degenerative changes in the facet joint of patients with low back pain irradiating to the lower extremities, and discuss some problems relating to diagnosis and different diagnosis. 119 patients presenting the listed bellow syndromes are covered by the study: scoliosis, polytopic pain vertebral syndrome, paresis and history of trauma. all patients undergo comprehensive neurological examination with special attention focused on the spine: CT and plain x-rays are taken of the lumbosacral segment to assess the condition of the facet joints. The neurological examination demonstrates in all cases pain syndrome in the lumbar spine referred to one or both lower extremities. In 56% it is a matter of persisting pain, and in 44% - recurrent. More than half of the patients complain of sacroiliac (SI) dislocation and palpatory pain. Unilateral or bilateral degenerative changes are documented by imaging studies in all patients, including: subchondral thickening, osteopathy narrowing the lateral or central part of the spinal canal with ensuing nerve root compression. The lumbosacral zygoapophyseal joints are source of pseudoradicular pain. A correlation between clinical picture and GT changes is noted in all patients with facet joint syndrome. CT is an indispensable method in diagnosing facet joint syndrome. (authors)

  11. Eagle syndrome. A narrative review

    Directory of Open Access Journals (Sweden)

    Heber Arbildo

    2016-09-01

    Full Text Available Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid process and ligament stylohyoid calcification. The condition is accompanied by symptoms such as dysphonia, dysphagia, sore throat, glossitis, earache, tonsillitis, facial pain, headache, pain in the temporomandibular joint and inability to perform lateral movements of the neck. Diagnosis and treatment of Eagle syndrome based on symptoms and radiographic examination of the patient will determine the need for surgical or nonsurgical treatment. Eagle syndrome is a complex disorder demanding a thorough knowledge of its signs and symptoms to make a correct diagnosis and provide an appropriate subsequent treatment. Disseminating information about this syndrome among medical-dental professionals is essential to provide adequate dental care to patients.

  12. Noninfectious differential diagnoses of pneumonia

    International Nuclear Information System (INIS)

    Wielandner, A.; Toelly, A.; Agarwal, P.; Bardach, C.

    2017-01-01

    In patients with a clinical suspicion of pneumonia, typical clinical and laboratory features along with the detection of infiltrates on chest X-ray are as a rule considered diagnostic and therapy is immediately initiated; however, studies have shown that in up to 5% of patients with an initial suspicion of pneumonia, another noninfectious pulmonary disease was the underlying cause. Early recognition and differentiation of diseases mimicking pneumonia are prerequisites for an adequate therapy. The aim of this review is to present the important noninfectious differential diagnoses of pneumonia and to provide the reader with tools for a systematic diagnostic approach. A literature search was carried out. As alterations in the lungs often result in similar imaging appearances and a differentiation between transudates, exsudates, blood and cells is not feasible by chest X-ray or CT, a systematic approach is essential to make an appropriate diagnosis. Hence, consideration of the temporal course, predominant pattern, distribution of findings, additional findings and clinical presentation are indispensable. (orig.) [de

  13. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome

    Science.gov (United States)

    Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

    2018-01-01

    Abstract Rationale: The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. Patient concerns: We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Diagnoses: Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. Intervetions: The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Outcomes: Clinical improvement ensued. At follow-up the patient is well. Lessons: The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities. PMID:29642153

  14. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N

    2008-07-01

    Full Text Available Abstract Gitelman syndrome (GS, also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC, are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Bartter syndrome (especially type III is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS

  15. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  16. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  17. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  18. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  19. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  20. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  1. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  2. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  3. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  4. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  5. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  6. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  7. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  8. [Multidisciplinary practice guideline 'Marfan syndrome'].

    Science.gov (United States)

    Hilhorst-Hofstee, Yvonne

    2013-01-01

    Marfan syndrome is a multi-system disorder of dominant inheritance in which the cardiovasculature, in particular the aorta, the eyes and the skeleton are affected. Diagnostic assessment and treatment of patients who are suspected of or have Marfan syndrome should preferably be done by multidisciplinary teams such as those found in specialised Marfan syndrome centres. The practice guideline is intended for all care givers involved with the recognition, diagnosis, consultations and the medicinal and surgical treatment of Marfan patients; it includes referral criteria and information on the referral process. A diagnosis of Marfan syndrome is based on international criteria in which aortic root dilatation and dissection, ectopia lentis, an affected first-degree family member and a pathogenic FBN1 mutation are the cardinal features. Alternative diagnoses are also included in the practice guideline. Recommendations are given for the monitoring and treatment of Marfan patients during pregnancy and delivery. Advice on lifestyle is mainly focussed on sports activities.

  9. Chondroectodermal dysplasia: a rare syndrome.

    Directory of Open Access Journals (Sweden)

    Dana Tahririan

    2014-06-01

    Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

  10. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  11. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  12. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  13. Prescribing patterns in premenstrual syndrome

    Directory of Open Access Journals (Sweden)

    Jones Paul W

    2002-06-01

    Full Text Available Abstract Background Over 300 therapies have been proposed for premenstrual syndrome. To date there has been only one survey conducted in the UK of PMS treatments prescribed by GPs, a questionnaire-based study by the National Association of Premenstrual Syndrome in 1989. Since then, selective serotonin re-uptake inhibitors have been licensed for severe PMS/PMDD, and governmental recommendations to reduce the dosage of vitamin B6 (the first choice over-the-counter treatment for many women with PMS have been made. This study investigates the annual rates of diagnoses and prescribing patterns for premenstrual syndrome (1993–1998 within a computerised general practitioner database. Methods Retrospective survey of prescribing data for premenstrual syndrome between 1993–1998 using the General Practice Research Database for the West Midlands Region which contains information on 282,600 female patients Results Overall the proportion of women with a prescription-linked diagnosis of premenstrual syndrome has halved over the five years. Progestogens including progesterone were the most commonly recorded treatment for premenstrual syndrome during the whole study period accounting for over 40% of all prescriptions. Selective serotonin-reuptake inhibitors accounted for only 2% of the prescriptions in 1993 but rose to over 16% by 1998, becoming the second most commonly recorded treatment. Vitamin B6 accounted for 22% of the prescriptions in 1993 but dropped markedly between 1997 and 1998 to 11%. Conclusions This study shows a yearly decrease in the number of prescriptions linked to diagnoses for premenstrual syndrome. Progestogens including progesterone, is the most widely prescribed treatment for premenstrual syndrome despite the lack of evidence demonstrating their efficacy.

  14. PRES syndrome

    International Nuclear Information System (INIS)

    Georgiev, R.; Novakova, M.; Balev, B.; Baleva, D.; Nedelchev, K.

    2010-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  15. Postthrombotic syndrome.

    Science.gov (United States)

    Pesavento, Raffaele; Bernardi, Enrico; Concolato, Alessia; Dalla Valle, Fabio; Pagnan, Antonio; Prandoni, Paolo

    2006-10-01

    Despite considerable progress in the diagnosis and treatment of deep vein thrombosis (DVT) of the lower extremities, one of every three patients will develop postthrombotic sequelae within 2 years; these sequelae are severe in approximately 20% of cases and produce considerable socioeconomic consequences. Among factors potentially related to the development of the postthrombotic syndrome (PTS) are older age, obesity, insufficient oral anticoagulant therapy, and recurrent ipsilateral thrombosis. Whether the extent and location of the initial thrombosis are associated with the development of PTS is controversial. Based on recent findings, the lack of vein recanalization within the first 6 months appears to be an important predictor of PTS, whereas the development of transpopliteal venous reflux is not. The diagnosis of PTS can be made on clinical grounds for patients with a history of DVT. The combination of a standardized clinical evaluation with the results of compression ultrasonography and Doppler ultrasound helps diagnose or exclude a previous proximal vein thrombosis. According to the results of recent clinical studies, the prompt administration of adequate compression elastic stockings in patients with symptomatic DVT has the potential to reduce the frequency of late PTS development by half. The management of this condition is demanding and often frustrating. However, when carefully supervised and instructed to wear proper elastic stockings, more than 50% of patients will either remain stable or improve during long-term follow-up. Clinical presentation helps predict the prognosis; the outcome of patients who refer with initially severe manifestations is more favorable than that of patients whose symptoms deteriorate progressively over time.

  16. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

    Science.gov (United States)

    Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

    2008-12-01

    Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

  17. [Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

    Science.gov (United States)

    Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

    2018-01-26

    This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

  18. Is It Antiphospholipid Syndrome?

    Directory of Open Access Journals (Sweden)

    Maria Chiara Ditto

    2010-01-01

    Full Text Available The diagnosis of bacterial endocarditis remains a challenge, as nearly half of cases develop in the absence of preexistent heart disease and known risk factors. Not infrequently, a blunted clinical course at onset can lead to erroneous diagnoses. We present the case of a 47-year-old previously healthy man in which a presumptive diagnosis of antiphospholipid syndrome was made based on the absence of echocardiographically detected heart involvement, a negative blood culture, normal C-reactive protein (CRP levels, a positive lupus anticoagulant (LAC test, and evidence of splenic infarcts. The patient eventually developed massive aortic endocarditic involvement, with blood cultures positive for Streptococcus bovis, and was referred for valvular replacement. This case not only reminds us of the diagnostic challenges of bacterial endocarditis, but also underlines the need for a critical application of antiphospholipid syndrome diagnostic criteria.

  19. Mac Leod's syndrome

    International Nuclear Information System (INIS)

    Schad, M.; Danesi, C.; Ricci, R.; Galluzzi, S.; Coviello, G.

    1988-01-01

    Mac Leod's syndrome is a rarely diagnosed disease; that is why an accurate differential diagnosis is needed by means of radiological imaging. This paper is aimed at discussing the differential diagnosis, with a special emphasis on the pathogenesis of the syndrome. The phenomenon of air trapping in absence of central bronchial lesions is a typical radiographic finding. Chest X-ray is performed in both inspiration and expiration. Posterior oblique tomography at 55 grade centigrade of the effected side is also performed. Diffuse bronchiolitis obliterans in infancy or early childhood ia widely accepted pathogenetic pattern. Pulmonary hypoventilation causes vasoconstriction and underdevelopment of pulmonary vessels, that are reduced in caliber. Differential diagnosis includes all the diseases resulting in pulmonary hyperlucency, i.e. pulmonary and pleural alterations, and skeletal anomalies

  20. Catastrophic primary antiphospholipid syndrome

    International Nuclear Information System (INIS)

    Kim, Dong Hun; Byun, Joo Nam; Ryu, Sang Wan

    2006-01-01

    Catastrophic antiphospholipid syndrome (CAPLS) was diagnosed in a 64-year-old male who was admitted to our hospital with dyspnea. The clinical and radiological examinations showed pulmonary thromboembolism, and so thromboembolectomy was performed. Abdominal distension rapidly developed several days later, and the abdominal computed tomography (CT) abdominal scan revealed thrombus within the superior mesenteric artery with small bowel and gall bladder distension. Cholecystectomy and jejunoileostomy were performed, and gall bladder necrosis and small bowel infarction were confirmed. The anticardiolipin antibody was positive. Anticoagulant agents and steroids were administered, but the patient expired 4 weeks after surgery due to acute respiratory distress syndrome (ARDS). We report here on a case of catastrophic APLS with manifestations of pulmonary thromboembolism, rapidly progressing GB necrosis and bowel infarction

  1. Catastrophic primary antiphospholipid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Dong Hun; Byun, Joo Nam [Chosun University Hospital, Gwangju (Korea, Republic of); Ryu, Sang Wan [Miraero21 Medical Center, Gwangju (Korea, Republic of)

    2006-09-15

    Catastrophic antiphospholipid syndrome (CAPLS) was diagnosed in a 64-year-old male who was admitted to our hospital with dyspnea. The clinical and radiological examinations showed pulmonary thromboembolism, and so thromboembolectomy was performed. Abdominal distension rapidly developed several days later, and the abdominal computed tomography (CT) abdominal scan revealed thrombus within the superior mesenteric artery with small bowel and gall bladder distension. Cholecystectomy and jejunoileostomy were performed, and gall bladder necrosis and small bowel infarction were confirmed. The anticardiolipin antibody was positive. Anticoagulant agents and steroids were administered, but the patient expired 4 weeks after surgery due to acute respiratory distress syndrome (ARDS). We report here on a case of catastrophic APLS with manifestations of pulmonary thromboembolism, rapidly progressing GB necrosis and bowel infarction.

  2. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  3. Raising a child with down's syndrome: perspectives from South ...

    African Journals Online (AJOL)

    chromosomal abnormalities rather than attribution of the syndrome to a fault of their own. Despite the ..... children diagnosed with Attention Deficit/Hyperactivity. Disorder. Masters in Education University of Kwazu- ... Social Policy Research Unit.

  4. Varicella-Zoster Virus and Ramsay Hunt Syndrome

    OpenAIRE

    J Gordon Millichap

    2000-01-01

    Fifty two children, aged 2 to 15 years, diagnosed with Ramsay Hunt syndrome (RHS) in a 20 year period between 1976 and 1996 are reported from the Facial Nerve Clinic, Ehime University Hospital, Japan.

  5. Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome.

    Science.gov (United States)

    Kamal-Salah, Radua; Baquero-Aranda, Isabel; Grana-Pérez, María Del Mar; García-Campos, Jose Manuel

    2015-03-12

    We report an unusual association of a pattern dystrophy of the retinal pigment epithelium and homonymous hemianopia in a woman diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome. 2015 BMJ Publishing Group Ltd.

  6. Unsuspected costo-vertebral fractures demonstrated by bone scanning in the child abuse syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Smith, F W; Gilday, D L; Ash, J M; Green, M D

    1980-01-01

    Many patterns of injury have been described in the child abuse syndrome. Until recently, all the bone manifestations of this syndrome have been diagnosed radiologically. Four cases of multiple costovertebral fracture diagnosed by bone scan are described and their etiology discussed. The use of bone scanning in identifying fractures which previously would have been missed is advocated.

  7. Stiffness and thickness of fascia do not explain chronic exertional compartment syndrome

    DEFF Research Database (Denmark)

    Dahl, Morten; Hansen, Philip; Stål, Per

    2011-01-01

    Chronic exertional compartment syndrome is diagnosed based on symptoms and elevated intramuscular pressure and often is treated with fasciotomy. However, what contributes to the increased intramuscular pressure remains unknown.......Chronic exertional compartment syndrome is diagnosed based on symptoms and elevated intramuscular pressure and often is treated with fasciotomy. However, what contributes to the increased intramuscular pressure remains unknown....

  8. Unsuspected costo-vertebral fractures demonstrated by bone scanning in the child abuse syndrome

    International Nuclear Information System (INIS)

    Smith, F.W.; Gilday, D.L.; Ash, J.M.; Green, M.D.

    1980-01-01

    Many patterns of injury have been described in the child abuse syndrome. Until recently, all the bone manifestations of this syndrome have been diagnosed radiologically. Four cases of multiple costovertebral fracture diagnosed by bone scan are described and their etiology discussed. The use of bone scanning in identifying fractures which previously would have been missed is advocated. (orig.) [de

  9. [Familial Wolfram syndrome].

    Science.gov (United States)

    Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M

    2014-11-01

    Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  10. Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome.

    Science.gov (United States)

    Runde, Joseph; Rivera-Rivera, Edgardo; Pompeii-Wolfe, Cecelia; Clardy, Christopher; Sentongo, Timothy

    2018-05-10

    Refeeding syndrome is diagnosed based on the onset of multiple laboratory abnormalities (most commonly hypophosphatemia) and clinical signs in the setting of nutrition rehabilitation of malnourished patients. Because definitions are not uniform, a broad differential diagnosis should always include renal tubular dysfunction. Our report details a 3 year-old child with undiagnosed renal tubular dysfunction who presented with the clinical picture of refeeding syndrome with refractory electrolyte abnormalities. A diagnosis of renal Fanconi syndrome was made after urinalysis that revealed glucosuria and urine electrolyte losses. Thus, urinalysis can aid in making a positive diagnosis of refeeding syndrome. © 2018 American Society for Parenteral and Enteral Nutrition.

  11. Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies.

    Science.gov (United States)

    Galland, Joris; Mohamed, Shirine; Revuz, Sabine; de Maistre, Emmanuel; de Laat, Bas; Marie, Pierre-Yves; Zuily, Stéphane; Lévy, Bruno; Regnault, Véronique; Wahl, Denis

    2016-07-01

    Lupus anticoagulant-hypoprothrombinemia syndrome is a rare condition characterized by the association of acquired factor II deficiency and lupus anticoagulant. Contrary to classical antiphospholipid syndrome, it may cause severe life-threatening bleeding (89% of published cases). We report a patient, positive for antidomain I antibodies, with initially primary lupus anticoagulant-hypoprothrombinemia syndrome without previous clinical manifestation or underlying systemic disease. Five years later, he experienced the first systemic lupus erythematous flare. Within a few days, catastrophic antiphospholipid syndrome was diagnosed with heart, liver and kidney involvement. The patient recovered under pulse steroids, intravenous heparin and intravenous immunoglobulins.

  12. Fahr's Syndrome and Secondary Hypoparathyroidism.

    Science.gov (United States)

    Dos Santos, Vitorino Modesta; Da Mata, Ana Medeiros De Farias; Ribeiro, Kelle Regina Alves; Calvo, Isadora Cartaxo De Sousa

    2016-01-01

    A typical case of Fahr's syndrome is described in a 76-year-old Brazilian female who underwent a total thyroidectomy three decades ago. Six years before the current admission, she started with generalized tonic-clonic seizures. Associated disorders involved extra-pyramidal, cognitive, nocturnal terror and mood changes. With suspicion of hypocalcemia due to secondary hypoparathyroidism, laboratory determinations confirmed the diagnoses. Furthermore, imaging studies of the central nervous system detected multiple calcifications, with characteristic distribution of Fahr's syndrome. Clinical management was successful.

  13. Fetal Alcohol Syndrome Disorder: diminished responsibility and mitigation of sentence.

    Science.gov (United States)

    Scott, Russ

    2018-02-01

    The objective of this study was to consider the implications of a recent Western Australia Court of Appeal decision in which an indigenous youth who had been sentenced for the manslaughter of his neonate child was later diagnosed with Fetal Alcohol Syndrome Disorder. The increased use of the 2016 Australian guide to the diagnosis of fetal alcohol spectrum disorder should be encouraged to enable clinicians to not only diagnose and manage Fetal Alcohol Syndrome Disorder, but also counsel families to prevent it.

  14. Flexor pollicis longus tenosynovitis in patients with carpal tunnel syndrome.

    Science.gov (United States)

    Manfield, Laura; Thomas, Mark; Lee, Se Won

    2014-06-01

    Carpal tunnel syndrome is typically diagnosed from history and physical examination then confirmed with electrodiagnosis. Electrodiagnosis provides only limited anatomic information and evaluation of space-occupying lesions. The authors present two cases in which demonstrated flexor pollicis longus tenosynovitis coexistent with carpal tunnel syndrome was diagnosed with ultrasonography. Ultrasonography is an effective modality that enhances the investigation of diseases in the soft tissues of the wrist and the hand. It can be useful in directing specific treatment by increasing diagnostic accuracy.

  15. Central nervous system involvement in primary Sjogren`s syndrome manifesting as multiple sclerosis.

    Science.gov (United States)

    Liu, Jing-Yao; Zhao, Teng; Zhou, Chun-Kui

    2014-04-01

    Central nervous system symptoms in patients with primary Sjogren`s syndrome are rare. They can present as extraglandular manifestations and require a differential diagnosis from multiple sclerosis. Due to a variety of presentations, Sjogren`s syndrome with neurologic involvement may be difficult to diagnose. Here, we report a case of a 75-year-old woman who was first diagnosed with multiple sclerosis in 2010, but who was subsequently diagnosed with primary Sjogren`s syndrome 2 years later after showing signs of atypical neurologic manifestations. Therefore, primary Sjogren`s syndrome should be suspected in patients who present with atypical clinical and radiologic neurologic manifestations.

  16. Thoracic outlet syndrome: Case report

    International Nuclear Information System (INIS)

    Marquez, Juan Camilo; Acosta, Mauricio Fernando; Uribe Jorge Ricardo

    2009-01-01

    We report a case of vascular thoracic outlet syndrome in a young man, diagnosed with upper limb arteriography, leading to repeated arterio-arterial emboli originating from a post-stenotic subclavian artery aneurysm. It is of our interest due to its low incidence and the small number of cases reported that have been diagnosed by arteriography. The thoracic outlet is the path through which vascular and neural structures goes from the neck to the axilla, and it has three anatomical strictures, that when pronounced, can compress the brachial plexus or subclavian vessels, leading to different symptoms and signs.

  17. CUBOID SYNDROME: A REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    Stephen M. Patterson

    2006-12-01

    Full Text Available The purpose of this review was to inform all medical health care professionals about cuboid syndrome, which has been described as difficult to recognize and is commonly misdiagnosed, by explaining the etiology of this syndrome, its clinical diagnosis in relation to differential diagnoses, commonly administered treatment techniques, and patient outcomes. A comprehensive review of the relevant literature was conducted with MEDLINE, EBSCO, and PubMed (1960 - Present using the key words cuboid, cuboid syndrome, foot anatomy, tarsal bones, manual therapy, and manipulation. Medical professionals must be aware that any lateral foot and ankle pain may be the result of cuboid syndrome. Once properly diagnosed, cuboid syndrome responds exceptionally well to conservative treatment involving specific cuboid manipulation techniques. Other methods of conservative treatment including therapeutic modalities, therapeutic exercises, padding, and low dye taping techniques are used as adjuncts in the treatment of this syndrome. Immediately after the manipulation is performed, the patient may note a decrease or a complete cessation of their symptoms. Occasionally, if the patient has had symptoms for a longer duration, several manipulations may be warranted throughout the course of time. Due to the fact radiographic imaging is of little value, the diagnosis is largely based on the patient's history and a collection of signs and symptoms associated with the condition. Additionally, an understanding of the etiology behind this syndrome is essential, aiding the clinician in the diagnosis and treatment of this syndrome. After the correct diagnosis is made and a proper treatment regimen is utilized, the prognosis is excellent

  18. Difficult diagnoses in the skeletal radiology

    International Nuclear Information System (INIS)

    Freyschmidt, Juergen

    2013-01-01

    The book on difficult diagnoses in the skeletal radiology discusses the path from symptom to diagnoses including image interpretation. Specific case studies concern the skull, the spinal cord, pelvis, shoulder and chest, upper and lower extremities. The used radiological techniques include projecting radiography, computerized tomography, scintiscanning, PET/CT, NNR imaging and ultrasonography.

  19. From experience : applying the risk diagnosing methodology

    NARCIS (Netherlands)

    Keizer, J.A.; Halman, J.I.M.; Song, X.M.

    2002-01-01

    No risk, no reward. Companies must take risks to launch new products speedily and successfully. The ability to diagnose and manage risks is increasingly considered of vital importance in high-risk innovation. This article presents the Risk Diagnosing Methodology (RDM), which aims to identify and

  20. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... website. Skip to main content SaveMyFertility An Online Fertility Preservation Toolkit for Patients and Their Providers Open ... Diagnosed with Cancer You are here Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation ...

  1. Immunoparesis in newly diagnosed Multiple Myeloma patients

    DEFF Research Database (Denmark)

    Sorrig, Rasmus; Klausen, Tobias W.; Salomo, Morten

    2017-01-01

    Immunoparesis (hypogammaglobulinemia) is associated to an unfavorable prognosis in newly diagnosed Multiple myeloma (MM) patients. However, this finding has not been validated in an unselected population-based cohort. We analyzed 2558 newly diagnosed MM patients in the Danish Multiple Myeloma...

  2. From experience: applying the risk diagnosing methodology

    NARCIS (Netherlands)

    Keizer, Jimme A.; Halman, Johannes I.M.; Song, Michael

    2002-01-01

    No risk, no reward. Companies must take risks to launch new products speedily and successfully. The ability to diagnose and manage risks is increasingly considered of vital importance in high-risk innovation. This article presents the Risk Diagnosing Methodology (RDM), which aims to identify and

  3. The failure diagnoses of nuclear reactor systems

    International Nuclear Information System (INIS)

    Sheng Huanxing.

    1986-01-01

    The earlier period failure diagnoses can raise the safety and efficiency of nuclear reactors. This paper first describes the process abnormality monitoring of core barrel vibration in PWR, inherent noise sources in BWR, sodium boiling in LMFBR and nuclear reactor stability. And then, describes the plant failure diagnoses of primary coolant pumps, loose parts in nuclear reactors, coolant leakage and relief valve location

  4. Diagnosing differences between business process models

    NARCIS (Netherlands)

    Dijkman, R.M.; Dumas, M.; Reichert, M.; Shan, M.-C.

    2008-01-01

    This paper presents a technique to diagnose differences between business process models in the EPC notation. The diagnosis returns the exact position of a difference in the business process models and diagnoses the type of a difference, using a typology of differences developed in previous work.

  5. Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome.

    Science.gov (United States)

    Lee, Hyun Jung; Je, Ji Hye; Seo, Ji Hye; Na, Young Ju; Yoo, Hye Jin

    2014-11-01

    Glucocorticoid (GC) excess, including Cushing's syndrome, is a common cause of secondary osteoporosis. Thirty to fifty percent of Cushing's syndrome patients experience non-traumatic fractures, which is often the presenting manifestation of Cushing's syndrome. However, there have been rare cases of Cushing's syndrome diagnosed only based upon bone manifestations. We describe a case of Cushing's syndrome that was diagnosed in a 44-year-old woman who initially visited our hospital due to multiple non-traumatic rib fractures. She did not exhibit any other manifestations of Cushing's syndrome such as moon face, buffalo hump or abdominal striae. Initially, we evaluated her for bone metastases from a cancer of unknown origin, but there was no evidence of metastatic cancer. Instead, we found a left adrenal incidentaloma. As a result of the hormone study, she was diagnosed as having Cushing's syndrome. Interestingly, her bony manifestation of Cushing's syndrome, which was evident in the bone scan and bone mineral densitometry, completely recovered after a left adrenalectomy. Therefore, the possibility of Cushing's syndrome as a cause of secondary osteoporosis should be considered in young patients with non-traumatic multiple fractures, with or without any other typical features of Cushing's syndrome.

  6. Bazex Syndrome with Hypoalbuminemia and Severe Ascites

    OpenAIRE

    Matsui, Hidetoshi; Iwae, Shigemichi; Hirayama, Yuji; Yonezawa, Koichiro; Shigeji, Jun

    2016-01-01

    Bazex syndrome is a rare paraneoplastic dermatosis. The underlying malignancy frequently is squamous cell carcinoma of the upper aerodigestive tract or cervical lymph nodes from an unknown primary site. We report a 63-year-old man with squamous cell carcinoma of cervical lymph nodes from an unknown primary site. He developed a mass on the right side of his neck, cutaneous lesions diagnosed as Bazex syndrome, hypoalbuminemia, and severe ascites. Right neck dissection was performed. After neck ...

  7. Raine syndrome: expanding the radiological spectrum

    Energy Technology Data Exchange (ETDEWEB)

    Koob, Meriam; Dietemann, Jean-Louis [CHU de Strasbourg Hopital de Hautepierre, Service de Radiologie 2, Strasbourg (France); Doray, Berenice; Fradin, Melanie [CHU de Strasbourg, Hopital de Hautepierre, Laboratoire de Genetique Medicale, Strasbourg (France); Astruc, Dominique [CHU de Strasbourg Hopital de Hautepierre, Service de Neonatologie, Strasbourg (France)

    2011-03-15

    We describe ante- and postnatal imaging of a 1-year-old otherwise healthy girl with Raine syndrome. She presented with neonatal respiratory distress related to a pyriform aperture stenosis, which was diagnosed on CT. Signs of chondrodysplasia punctata, sagittal vertebral clefting and intervertebral disc and renal calcifications were also found on imaging. This new case confirms that Raine syndrome is not always lethal. The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology. (orig.)

  8. Acquired Bartter syndrome following gentamicin therapy

    Directory of Open Access Journals (Sweden)

    J Singh

    2016-01-01

    Full Text Available Aminoglycoside nephrotoxicity may manifest as nonoliguric renal failure or tubular dysfunction, such as Fanconi-like syndrome, Bartter-like syndrome (BS, or distal renal tubular acidosis. We report a case who developed severe renal tubular dysfunction on the the 7 th day of gentamicin therapy, resulting in metabolic alkalosis, refractory hypokalemia, hypocalcemia, hypomagnesemia, and polyuria. The patient was diagnosed as a case of transient BS associated with gentamicin exposure. The patient recovered with conservative management.

  9. Acquired Bartter syndrome following gentamicin therapy.

    Science.gov (United States)

    Singh, J; Patel, M L; Gupta, K K; Pandey, S; Dinkar, A

    2016-01-01

    Aminoglycoside nephrotoxicity may manifest as nonoliguric renal failure or tubular dysfunction, such as Fanconi-like syndrome, Bartter-like syndrome (BS), or distal renal tubular acidosis. We report a case who developed severe renal tubular dysfunction on the the 7 th day of gentamicin therapy, resulting in metabolic alkalosis, refractory hypokalemia, hypocalcemia, hypomagnesemia, and polyuria. The patient was diagnosed as a case of transient BS associated with gentamicin exposure. The patient recovered with conservative management.

  10. Raine syndrome: expanding the radiological spectrum

    International Nuclear Information System (INIS)

    Koob, Meriam; Dietemann, Jean-Louis; Doray, Berenice; Fradin, Melanie; Astruc, Dominique

    2011-01-01

    We describe ante- and postnatal imaging of a 1-year-old otherwise healthy girl with Raine syndrome. She presented with neonatal respiratory distress related to a pyriform aperture stenosis, which was diagnosed on CT. Signs of chondrodysplasia punctata, sagittal vertebral clefting and intervertebral disc and renal calcifications were also found on imaging. This new case confirms that Raine syndrome is not always lethal. The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology. (orig.)

  11. Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms

    Directory of Open Access Journals (Sweden)

    Barnum R

    2014-04-01

    Full Text Available Richard BarnumPrivate practice, Child and adolescent psychiatry, MA, USAAbstract: Conversion Disorder (CD is a diagnosis offered to explain signs and symptoms that do not correspond to recognized medical conditions. Pediatric patients with variable, vague, and multisystem complaints are at increased risk for being diagnosed with CD. Little is known about the impact of such a diagnosis. In making such diagnoses, it is likely that pediatric providers hope to encourage patients to access mental health care, but no basis exists to show that these diagnoses result in such access in any useful way. This article presents the case of a child with Ehlers-Danlos Syndrome, who had been previously (incorrectly diagnosed with CD and referred for mental health care. It offers commentary based on interviews with other pediatric patients with similar experiences – conducted in collaboration with the Ehlers-Danlos National Foundation. These cases indicate that CD diagnoses can seriously undermine patients’ trust in doctors, and can create such defensiveness that it may interfere with (especially patients’ abilities to engage with mental health services. Such interference is an important problem, if the diagnosis is accurate. But, in the (more likely event that it is not accurate, this defensiveness can interfere with both important mental health care and further ongoing necessary medical care.Keywords: somatoform disorders, dysautonomias, pain, collagen diseases, mitochondrial diseases, complex regional pain syndromes

  12. Validity of dementia diagnoses in the danish hospital registers

    DEFF Research Database (Denmark)

    Phung, T.K.T.; Andersen, B.B.; Phung, T.K.T.

    2007-01-01

    .24-0.48). Conclusion: The validity of dementia syndrome in the Danish hospital registers was high and allows for epidemiological studies about dementia. Alzheimer's disease, although underregistered, also had a good validity once the diagnosis was registered. In general, other ICD-10 dementia subtypes in the registers......Background:The validity of dementia diagnoses in the Danish nationwide hospital registers was evaluated to determine the value of these registers in epidemiological research about dementia. Methods: Two hundred patients were randomly selected from 4,682 patients registered for the first time...... with a dementia diagnosis in the last 6 months of 2003. The patients' medical journals were reviewed to evaluate if they fulfilled ICD-10 and/or DSM-IV criteria for dementia and specific dementia subtypes. The patients who were still alive in 2006 were invited to an interview. Results: One hundred and ninety...

  13. Interesting cases which were difficult to diagnose by CT

    International Nuclear Information System (INIS)

    Ueki, Koji; Okubo, Koichi; Shinohara, Shinji

    1981-01-01

    Computed tomography (CT) clinically provides us with much more useful diagnostic informations regarding the localization, size, shape, extent and inner structure of the lesions and then in some cases the specific diagnosis can be also obtained by CT alone. However, it is usually difficult to define the longitudinal extent of the lesions, their relation to adjacent tissues, the originated site in enormous lesion and histological type also. At CT examination, it is essential to recognize these drawback and limitation on CT. From these points of view, six interesting cases (i.e. pericardial diverticulum, hepatoma with retroperitoneal metastasis, cholangiohepatoma, afferent loop syndrome, invagination and retroperitoneal malignant schwannoma) which were difficult to diagnose by CT and proved ultimately with operation or autopsy were illustrated with some reviews. (author)

  14. Gorlin–Goltz syndrome: An often missed diagnosis

    Science.gov (United States)

    Thomas, Ninan; Vinod, Sankar V.; George, Arun; Varghese, Aabu

    2016-01-01

    Gorlin-Goltz syndrome due to its high variability in expression are often not diagnosed as the syndrome and often managed same as that of odontogenic keratocyst. But a more careful approach for the syndrome is needed as there is high chance of malignant changes owing to improper management of the syndrome. In this manuscript a case report of Gorlin-Goltz syndrome with the diagnostic features of the same in Indian population along with the difference in treatment protocol from treating an odontogenic keratocyst is described with review of literature PMID:27563620

  15. Gorlin-Goltz syndrome: An often missed diagnosis.

    Science.gov (United States)

    Thomas, Ninan; Vinod, Sankar V; George, Arun; Varghese, Aabu

    2016-01-01

    Gorlin-Goltz syndrome due to its high variability in expression are often not diagnosed as the syndrome and often managed same as that of odontogenic keratocyst. But a more careful approach for the syndrome is needed as there is high chance of malignant changes owing to improper management of the syndrome. In this manuscript a case report of Gorlin-Goltz syndrome with the diagnostic features of the same in Indian population along with the difference in treatment protocol from treating an odontogenic keratocyst is described with review of literature.

  16. Radiological features of familial Gorlin-Goltz syndrome.

    Science.gov (United States)

    Hegde, Shruthi; Shetty, Shishir Ram

    2012-03-01

    Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

  17. Cotard's syndrome and delayed diagnosis in Kashmir, India

    OpenAIRE

    Wani, Zaid A; Khan, Abdul W; Baba, Aijaz A; Khan, Hayat A; Wani, Qurat-ul Ain; Taploo, Rayeesa

    2008-01-01

    Abstract Cotard's syndrome is a rare syndrome, characterized by the presence of nihilistic delusions. The syndrome is typically related to depression and is mostly found in middle-aged or older people. A few cases have been reported in young people with 90% of these being females. We present a case of a young pregnant woman suffering from Cotard's syndrome. This is the first report of this syndrome in a pregnant woman. The case was diagnosed late, due to lack of awareness of psychiatric probl...

  18. Radiological features of familial Gorlin-Goltz syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hegde, Shruthi; Shetty, Shishir Ram [AB Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore (India)

    2012-03-15

    Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

  19. Radiological features of familial Gorlin-Goltz syndrome

    International Nuclear Information System (INIS)

    Hegde, Shruthi; Shetty, Shishir Ram

    2012-01-01

    Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

  20. Prolapse of all cardiac valves in Noonan syndrome.

    Science.gov (United States)

    Otikunta, Adikesava Naidu; Subbareddy, Y V; Polamuri, Praneeth; Thakkar, Ashok

    2015-02-25

    Noonan syndrome is an autosomal dominant disorder with genetically heterogeneous inheritance. The incidence of cardiac abnormalities is higher in patients with Noonan syndrome and approximately 80% patients with Noonan syndrome are reported to have cardiac abnormalities during their lifetimes. However, polyvalvular disease in Noonan syndrome is rare. In this case-report, we describe a case of a young man whose features were strongly suggestive of Noonan syndrome and who was diagnosed with prolapse of all four cardiac valves after 22 years of uneventful survival. 2015 BMJ Publishing Group Ltd.

  1. Cantrell Syndrome. Case report of an adult

    Directory of Open Access Journals (Sweden)

    João Luiz Alencar Araripe Falcão

    2000-10-01

    Full Text Available Cantrell syndrome is characterized by defects that involve the diaphragm, abdominal wall, pericardium, heart, and lower region of the sternum. It is a rare entity, usually diagnosed at birth and accompanied by high mortality due to the complexity and gravity of the anomalies. In this report, we present a 32-year-old male patient, who was diagnosed in infancy but who reached adult age asymptomatic.

  2. Lethal midline granuloma syndrome: a diagnostic dilemma

    International Nuclear Information System (INIS)

    Ribeiro, Bruno Niemeyer de Freitas; Bahia, Paulo Roberto Valle; Oliveira, Ana Luiza Vianna Sobral de Magalhaes; Marchon Junior, Joao Luiz

    2012-01-01

    The rare lethal midline granuloma syndrome is difficult to diagnose because of the wide array of related diseases and lack of knowledge by the majority of physicians. In the present report, the authors describe the case of a patient with this disease, caused by squamous cell carcinoma, drawing attention to differential diagnoses and to clinical and radiological findings that may be useful to define the diagnosis. (author)

  3. Lethal midline granuloma syndrome: a diagnostic dilemma

    Energy Technology Data Exchange (ETDEWEB)

    Ribeiro, Bruno Niemeyer de Freitas; Bahia, Paulo Roberto Valle [Radiology, Hospital Universitario Clementino Fraga Filho - Universidade Federal do Rio de Janeiro (HUCFF-UFRJ), Rio de Janeiro, RJ (Brazil); Oliveira, Ana Luiza Vianna Sobral de Magalhaes [Resident of Medical Practice, Hospital Federal da Lagoa, Rio de Janeiro, RJ (Brazil); Marchon Junior, Joao Luiz [Unit of Computed Tomography, Hospital Federal da Lagoa, Rio de Janeiro, RJ (Brazil)

    2012-11-15

    The rare lethal midline granuloma syndrome is difficult to diagnose because of the wide array of related diseases and lack of knowledge by the majority of physicians. In the present report, the authors describe the case of a patient with this disease, caused by squamous cell carcinoma, drawing attention to differential diagnoses and to clinical and radiological findings that may be useful to define the diagnosis. (author)

  4. Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report.

    Science.gov (United States)

    Korkmaz, Uğur; Duman, Ali Erkan; Oğütmen Koç, Deniz; Gürbüz, Yeşim; Dındar, Gökhan; Ensaroğlu, Fatih; Sener, Selçuk Yusuf; Sentürk, Omer; Hülagü, Sadettin

    2011-08-01

    Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. We suggest that other diseases should be investigated if patients with Dubin-Johnson syndrome present with severe hyperbilirubinemia. Dubin-Johnson syndrome accompanied by hemolytic diseases might also have high coproporphyrin levels (as in Rotor's syndrome) than expected in pure Dubin-Johnson syndrome.

  5. Six controversial issues on subclinical Cushing's syndrome.

    Science.gov (United States)

    Chiodini, Iacopo; Albani, Adriana; Ambrogio, Alberto Giacinto; Campo, Michela; De Martino, Maria Cristina; Marcelli, Giorgia; Morelli, Valentina; Zampetti, Benedetta; Colao, Annamaria; Pivonello, Rosario

    2017-05-01

    Subclinical Cushing's syndrome is a condition of hypercortisolism in the absence of signs specific of overt cortisol excess, and it is associated with an increased risk of diabetes, hypertension, fragility fractures, cardiovascular events and mortality. The subclinical Cushing's syndrome is not rare, being estimated to be between 0.2-2 % in the adult population. Despite the huge number of studies that have been published in the recent years, several issues remain controversial for the subclinical Cushing's syndrome screening, diagnosis and treatment. The Altogether to Beat Cushing's syndrome Group was founded in 2012 for bringing together the leading Italian experts in the hypercortisolism-related diseases. This document represents the Altogether to Beat Cushing's syndrome viewpoint regarding the following controversial issues on Subclinical Cushing's syndrome (SCS): (1) Who has to be screened for subclinical Cushing's syndrome? (2) How to screen the populations at risk? (3) How to diagnose subclinical Cushing's syndrome in patients with an adrenal incidentaloma? (4) Which consequence of subclinical Cushing's syndrome has to be searched for? (5) How to address the therapy of choice in AI patients with subclinical Cushing's syndrome? (6) How to follow-up adrenal incidentaloma patients with subclinical Cushing's syndrome surgically or conservatively treated? Notwithstanding the fact that most studies that faced these points may have several biases (e.g., retrospective design, small sample size, different criteria for the subclinical Cushing's syndrome diagnosis), we believe that the literature evidence is sufficient to affirm that the subclinical Cushing's syndrome condition is not harmless and that the currently available diagnostic tools are reliable for identifying the majority of individuals with subclinical Cushing's syndrome.

  6. Superior sagittal sinus thrombosis: a rare complication of nephrotic syndrome.

    Directory of Open Access Journals (Sweden)

    Tullu M

    1999-10-01

    Full Text Available A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome.

  7. Depression and Anorexia Nervosa of Persons with Down Syndrome.

    Science.gov (United States)

    Szymanski, Ludwik S.; Biederman, Joseph

    1984-01-01

    Manifestations of depression in three adults wth Down syndrome, one of whom also exhibited anorexia nervosa, are described. Overall findings indicate that major depression in Down syndrome may be more frequent than previously assumed and that it can be diagnosed with standard diagnostic criteria, modified according to the patient's developmental…

  8. Two Cases of. Cushing's Syndrome tumour and bilateral hyperplasia

    African Journals Online (AJOL)

    Two patients, one with Cushing's syndrome and one with Cushing's disease, are presented. In the first case the syndrome was caused by a tumour of the right suprarenal gland which was treated by unilateral adrenalectomy, and the second case was diagnosed as hyperplasia of the left suprarenal gland, eventually leading ...

  9. Sensory Integration Used with Children with Asperger's Syndrome

    Science.gov (United States)

    Smith, Analisa L.

    2010-01-01

    Sensory Integration Program on Children with Asperger's Syndrome This literature review will document the effects of a parent implemented Sensory Integration Program upon children diagnosed with Asperger's Syndrome in order to discern its influence upon these children's overall ability to attend to learning and social development. The infrequency…

  10. Gorlin-Goltz Syndrome: case report and review of literature

    Directory of Open Access Journals (Sweden)

    Adrianne Rahde Bischoff

    2014-10-01

    Full Text Available Description of a case report of Gorlin-Goltz Syndrome diagnosed in a male newborn who presented increased head circumference and bifid ribs. Mother and grandmother presented typical physical findings of the syndrome, including palmar pits, odontogenic cysts, and history of multiple skin cancer resections. The diagnosis was based on clinical findings of three relatives. A literature review is also presented.

  11. MASA syndrome : ultrasonographic evidence in a male fetus

    NARCIS (Netherlands)

    Pomili, G; Donti, GV; Carrozza, LA; Ardisia, C; Servidio, F; Hofstra, RMW; Gilardi, G; Donti, E

    2000-01-01

    The recent identification of a common etiology among MASA syndrome (McKusick 303300), X-linked hydrocephalus (HSAS) (McKusick 307000) and other related neurological disorders, which had previously been considered distinct nosological entities, allowed us to diagnose MASA syndrome in a male fetus in

  12. Benign and malignant tumors in Rubinstein-Taybi syndrome

    NARCIS (Netherlands)

    Boot, Max V.; van Belzen, Martine J.; Overbeek, Lucy I.; Hijmering, Nathalie; Mendeville, Matias; Waisfisz, Quinten; Wesseling, Pieter; Hennekam, Raoul C.; de Jong, Daphne

    2018-01-01

    Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with

  13. Adult Prader-Willi Syndrome: An Update on Management

    Directory of Open Access Journals (Sweden)

    Luk Ho-Ming

    2016-01-01

    Full Text Available With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.

  14. The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.

    Science.gov (United States)

    McCauley, Elizabeth; And Others

    1987-01-01

    The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

  15. Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

    Science.gov (United States)

    Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

    2015-11-01

    To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Nasal encephalocele in a child with Beckwith-Wiedemann syndrome

    NARCIS (Netherlands)

    Broekman, Marike L. D.; Hoving, Eelco W.; Kho, Kuan H.; Speleman, Lucienne; Sen Han, K.; Hanlo, Patrick W.

    Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by gigantism, macroglossia, exophthalmos, postpartum hypoglycemia, and multiple midline defects such as omphalocele. The authors describe, to the best of their knowledge, the first case of a child in whom BWS was diagnosed

  17. Adult Prader-Willi Syndrome: An Update on Management

    OpenAIRE

    Ho-Ming, Luk

    2016-01-01

    With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.

  18. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  19. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  20. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  1. Validation studies of nursing diagnoses in neonatology

    Directory of Open Access Journals (Sweden)

    Pavlína Rabasová

    2016-03-01

    Full Text Available Aim: The objective of the review was the analysis of Czech and foreign literature sources and professional periodicals to obtain a relevant comprehensive overview of validation studies of nursing diagnoses in neonatology. Design: Review. Methods: The selection criterion was studies concerning the validation of nursing diagnoses in neonatology. To obtain data from relevant sources, the licensed professional databases EBSCO, Web of Science and Scopus were utilized. The search criteria were: date of publication - unlimited; academic periodicals - full text; peer-reviewed periodicals; search language - English, Czech and Slovak. Results: A total of 788 studies were found. Only 5 studies were eligible for content analysis, dealing specifically with validation of nursing diagnoses in neonatology. The analysis of the retrieved studies suggests that authors are most often concerned with identifying the defining characteristics of nursing diagnoses applicable to both the mother (parents and the newborn. The diagnoses were validated in the domains Role Relationship; Coping/Stress tolerance; Activity/Rest, and Elimination and Exchange. Diagnoses represented were from the field of dysfunctional physical needs as well as the field of psychosocial and spiritual needs. The diagnoses were as follows: Parental role conflict (00064; Impaired parenting (00056; Grieving (00136; Ineffective breathing pattern (00032; Impaired gas exchange (00030; and Impaired spontaneous ventilation (00033. Conclusion: Validation studies enable effective planning of interventions with measurable results and support clinical nursing practice.

  2. Hypoplastic left heart syndrome

    Directory of Open Access Journals (Sweden)

    Thiagarajan Ravi

    2007-05-01

    Full Text Available Abstract Hypoplastic left heart syndrome(HLHS refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision

  3. Ketogenic Diet and Hormonal Therapy in Prevention of Evolution of West Syndrome to Lennox-Gastaut

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-08-01

    Full Text Available Medical records of 98 patients diagnosed with West syndrome and monitored at Sanggye Paik Hospital, Seoul, Korea, for at least 3 years were retrospectively reviewed to assess etiology, age at onset, value of various therapies, and the rate of evolution from West syndrome to Lennox-Gastaut syndrome.

  4. Adult Reye-like syndrome associated with serologic evidence of acute parvovirus B19 infection

    Directory of Open Access Journals (Sweden)

    Paulo Sérgio Gonçalves da Costa

    Full Text Available Reye's syndrome is an infrequently diagnosed medical condition affecting mainly children. The etiology, epidemiology and natural history of Reye's syndrome have been cloudily written in footnotes of medical books and exotic papers since the initial description in early 1950s. We report here a case of adult Reye's syndrome associated with serologic evidence of parvovirus B19 infection.

  5. Reye's Syndrome

    Science.gov (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  6. [Psychosocial approach to Diogenes syndrome].

    Science.gov (United States)

    Furtos, Jean

    2015-01-01

    Abnormal hoarding of random items in the home associated with severe self-neglect and neglect of one's environment, Diogenes syndrome is transnosographic. It can affect all social classes, people without any diagnosed mental health condition or patients with psychosis or dementia, over 60s and young people. It is conveyed by self-exclusion at home, a "poor precarity" which leads to a loss of the ability to trust others and ask for help.

  7. [Gorlin-Goltz syndrome--a case report].

    Science.gov (United States)

    Debski, Tomasz; Jethon, Józef

    2010-06-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies. To present a case of GGS and explain modern standards of care for patients with this syndrome. Authors report the case of a 36-year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas. Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome. Comprehensive interview and broadening of the diagnostics enabled to diagnose GGS and to introduce the appropriate treatment. GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process. Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.

  8. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  9. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  10. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  11. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  12. Annual Costs of Care for Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, and Functional Abdominal Pain Syndrome

    NARCIS (Netherlands)

    Hoekman, Daniël R.; Rutten, Juliette M. T. M.; Vlieger, Arine M.; Benninga, Marc A.; Dijkgraaf, Marcel G. W.

    2015-01-01

    To estimate annual medical and nonmedical costs of care for children diagnosed with irritable bowel syndrome (IBS) or functional abdominal pain (syndrome; FAP/FAPS). Baseline data from children with IBS or FAP/FAPS who were included in a multicenter trial (NTR2725) in The Netherlands were analyzed.

  13. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  14. Nance–Horan Syndrome: A Rare Case Report

    OpenAIRE

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, mi...

  15. Noonans syndrom kan diagnosticere sklinisk og molekylærgenetisk

    DEFF Research Database (Denmark)

    Krab Henningsen, Marie; Jelsig, Anne Marie; Andersen, Helle

    2015-01-01

    Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short...... stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies....

  16. Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

    Science.gov (United States)

    Victorine, Anna S; Weida, Jennifer; Hines, Karrie A; Robinson, Barrett; Torres-Martinez, Wilfredo; Weaver, David D

    2014-03-01

    Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome. © 2014 Wiley Periodicals, Inc.

  17. Evaluation of idiopathic transverse myelitis revealing specific myelopathy diagnoses.

    Science.gov (United States)

    Zalewski, Nicholas L; Flanagan, Eoin P; Keegan, B Mark

    2018-01-09

    To evaluate specific myelopathy diagnoses made in patients with suspected idiopathic transverse myelitis (ITM). A total of 226 patients 18 years and older were referred to Mayo Clinic Neurology for suspected ITM from December 1, 2010, to December 31, 2015. Electronic medical records were reviewed for detailed clinical presentation and course, laboratory and electrophysiologic investigations, and neuroimaging to determine the etiology. Current diagnostic criteria for ITM and alternative myelopathy diagnoses were applied. All cases where any discrepancy was suspected from the final reported clinical diagnosis were reviewed by each author and a consensus final diagnosis was made. The diagnostic criteria for ITM were met in 41 of 226 patients (18.1%). In 158 patients (69.9%), an alternative specific myelopathy diagnosis was made: multiple sclerosis or clinically isolated syndrome, 75; vascular myelopathy, 41; neurosarcoidosis, 12; neuromyelitis optica spectrum disorder, 12; myelin oligodendrocyte glycoprotein myelopathy, 5; neoplastic, 4; compressive, 3; nutritional, 3; infectious, 2; and other, 2. A myelopathy was not confirmed in 27 patients. Time from symptom onset to final clinical diagnosis in patients without ITM was a median of 9 months (range 0-288). Fifty-five patients (24%) required treatment changes according to their final clinical diagnosis. The majority of patients with suspected ITM have an alternative specific myelopathy diagnosis. A presumptive diagnosis of ITM can lead to premature diagnostic conclusions affecting patient treatment. Copyright © 2017 American Academy of Neurology.

  18. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    Science.gov (United States)

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  19. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... options further? Fertility Preservation - Where Does It Fit? Options for Fertility Preservation The following diagram gives a brief description of fertility preservation options available to children diagnosed with cancer before and ...

  20. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... Not an option if there is a high risk of ovarian metastases. Discuss with your doctor. b ... an IRB . Resources For more information about infertility risk and fertility preservation options for children diagnosed with ...

  1. How Do Health Care Providers Diagnose Vaginitis?

    Science.gov (United States)

    ... used to diagnose vaginitis. 1 Centers for Disease Control and Prevention. (2010). Self-study STD ... Halvorson New Chief of Gynecologic Health and Disease Branch Division of Epidemiology, Statistics, ...

  2. Fertility Preservation for Children Diagnosed with Cancer

    Science.gov (United States)

    ... Skip to main content SaveMyFertility An Online Fertility Preservation Toolkit for Patients and Their Providers Open menu ... with Cancer You are here Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation for ...

  3. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... for Children Diagnosed with Cancer Ask Your Doctor Information for Patients Many adult survivors of childhood cancer ... study approved by an IRB . Resources For more information about infertility risk and fertility preservation options for ...

  4. ADHD: the impact when not diagnosed

    OpenAIRE

    Souza,Isabella de; Mattos,Paulo; Pina,Camila; Fortes,Didia

    2008-01-01

    ADHD is a highly prevalent disorder in childhood with social, academic and familial difficulties when not diagnosed and treated correctly. The aim of this case report is to demonstrate the impairment of ADHD among generations of the same family.

  5. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... be fertility preservation options available and having your child see a reproductive specialist in a timely manner ... there are options for preserving fertility in your child diagnosed with cancer. You may be focused on ...

  6. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  7. Challenges in diagnosing tuberculosis in children

    DEFF Research Database (Denmark)

    Rahman, Nadia; Pedersen, Karin Kæreby; Rosenfeldt, Vibeke

    2012-01-01

    Clinical investigations of childhood tuberculosis (TB) are challenged by the paucibacillary nature of the disease and the difficulties in obtaining specimens. We investigated the challenges in diagnosing TB in children in a low-incidence country.......Clinical investigations of childhood tuberculosis (TB) are challenged by the paucibacillary nature of the disease and the difficulties in obtaining specimens. We investigated the challenges in diagnosing TB in children in a low-incidence country....

  8. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  9. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  10. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  11. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  12. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  13. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  14. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  15. Use of bayesian operations for diagnosing accidents

    International Nuclear Information System (INIS)

    Kang, K.M.; Jae, M.; Suh, K.Y.

    2005-01-01

    In complex systems, it is necessary to model a logical representation of the overall system interaction with respect to the individual subsystems. Operators are allowed to follow EOPs (Emergency Operating Procedures) when reactor tripped because of accidents. But, it's very difficult to diagnose accidents and find out appropriate procedures to mitigate current accidents in a given short time. Even if they diagnose accidents, it also has possibility to misdiagnose. TMI accident is a good example of operators' errors. Methodology using Influence Diagrams has been developed and applied for representing the dependency behaviors and uncertain behaviors of complex systems. An example to diagnose the accidents such as SLOCA and SGTR with similar symptoms has been introduced. From the constructed model, operators could diagnose accidents at any states of accidents. This model can offer the information about accidents with given symptoms. This model might help operators to diagnose correctly and rapidly. It might be very useful to support operators to reduce human error. Also, from this study, it is applicable to diagnose other accidents with similar symptoms and to analyze causes of reactor trip. (authors)

  16. Imaging spectrum of primary antiphospholipid antibody syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Kwon Ha; Won, Jong Jin [Wonkwang University Hospital, Iksan (Korea, Republic of); Ha, Hyun Kwon; Kim, Jung Hoon; Kim, Jeong Gon; Ki, Won Woo; Kim, Pyo Nyun; Lee, Moon Gyu; Auh, Yong Ho [Asan Medical Center, Seoul (Korea, Republic of)

    1998-04-01

    Antiphospholipid antibody syndrome is recognized as one of the most important causes of hypercoagulability. It can be clinically diagnosed if patients have experienced unexplained recurrent venous or arterial thrombosis, recurrent fetal loss, or thrombocytopenia in the presence of circulating autoantibodies to phospholipids, such as anticardiolipin antibody or lupus anticoagulant. Approximately half of all patients with this syndrome do not have associated systemic disease, and their condition is described as primary antiphospholipid antibody syndrome (PAPS). In the remainder, the syndrome is accompanied by systemic lupus erythematosus or other connective tissue diseases, and is known as secondary antiphospholipid syndrome (1). The purpose of this paper is to illustrate the systemic manifestation of PAPS, focusing on the radiological findings of CT, MR and angiography in clinically proven patients. (author). 8 refs., 10 figs.

  17. Rumination Syndrome and Dental Erosions in Children.

    Science.gov (United States)

    Monagas, Javier; Ritwik, Priyanshi; Kolomensky, Andrew; Acosta, Julio; Kay, Danielle; Clendaniel, Lindsey; Hyman, Paul E

    2017-06-01

    Rumination syndrome is the effortless regurgitation of recently ingested food with subsequent reswallowing or spitting out. Dental erosion (DE) affects 2% to 5% of the population. DE is defined as loss of tooth structure by a chemical process that does not involve bacteria. Our objective was to compare the frequency of DE among children with rumination syndrome with healthy controls. We enrolled 30 patients 4 to 21 years of age diagnosed with rumination syndrome, and 30 age- and sex-matched healthy control subjects. Patients were evaluated by pediatric dentists for presence of DE with Taji et al a validated grading system. Patients with rumination were more likely to have DE (P syndrome, 23 (77%) had DE, compared with 4 (13%) control subjects. DEs are more frequent in patients with rumination syndrome.

  18. Mapping the x-linked lymphoproliferative syndrome

    International Nuclear Information System (INIS)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-01-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally

  19. Mapping the x-linked lymphoproliferative syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-04-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.

  20. Imaging spectrum of primary antiphospholipid antibody syndrome

    International Nuclear Information System (INIS)

    Yoon, Kwon Ha; Won, Jong Jin; Ha, Hyun Kwon; Kim, Jung Hoon; Kim, Jeong Gon; Ki, Won Woo; Kim, Pyo Nyun; Lee, Moon Gyu; Auh, Yong Ho

    1998-01-01

    Antiphospholipid antibody syndrome is recognized as one of the most important causes of hypercoagulability. It can be clinically diagnosed if patients have experienced unexplained recurrent venous or arterial thrombosis, recurrent fetal loss, or thrombocytopenia in the presence of circulating autoantibodies to phospholipids, such as anticardiolipin antibody or lupus anticoagulant. Approximately half of all patients with this syndrome do not have associated systemic disease, and their condition is described as primary antiphospholipid antibody syndrome (PAPS). In the remainder, the syndrome is accompanied by systemic lupus erythematosus or other connective tissue diseases, and is known as secondary antiphospholipid syndrome (1). The purpose of this paper is to illustrate the systemic manifestation of PAPS, focusing on the radiological findings of CT, MR and angiography in clinically proven patients. (author). 8 refs., 10 figs

  1. Sick building syndrome

    Directory of Open Access Journals (Sweden)

    Tjandra Y. Aditama

    2002-06-01

    Full Text Available Sick building syndrome describes a number of mostly unspesific complaints of some occupants of the building. The exact pathophysiological mechanism remains elusive. It is a multi factorial event which may include physical, chemical, biological as well as psycological factors. In many cases it is due to insufficient maintenance of the HVAC (heating, ventilation, air conditioning system in the building. Sign and symptoms can be uncomfortable and even disabling, which may include mucus membrane irritation, neurotoxic symptoms, asthma like symptoms, skin complaints, gastrointestinal symptoms and other related symptoms. There are various investigation methods to diagnose sick building syndrome, and on site assessment of the building is extremely useful. Prevention through a proactive air quality monitoring program is far more desirable than dealing with an actual sick building. Indoor air and the sick building symdrome serves as a paradigm of modern occupational and environmental medicine. (Med J Indones 2002; 11:124-31Keywords: indoor air pollution, sick building syndrome, building related illness

  2. Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

    Science.gov (United States)

    Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

    2016-04-01

    Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  3. Diagnósticos de enfermagem em pacientes com o Vírus da Imunodeficiência Humana/ Síndrome da Imunodeficiência Adquirida em assistência ambulatorial Diagnósticos de enfermería en pacientes con el Virus de la Inmunodeficiencia Humana/Síndrome de la Inmunodeficiencia Adquirida en asistencia de ambulatorio Nursing diagnoses in patients with Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome in outpatient care

    Directory of Open Access Journals (Sweden)

    Gilmara Holanda da Cunha

    2010-01-01

    identify nursing diagnoses in carriers of the Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome (HIV/AIDS in outpatient care. METHODS: This is a descriptive study performed through the application of a questionnaire based on the theory of Orem Self-care. The sample consisted of 51 patients treated at the clinic of a public hospital in the city of Fortaleza-CE. RESULTS: 17 nursing diagnoses were identified, highlighting: risk of infection, sexual dysfunction, self-care deficit for food and ineffective management of therapeutic regimen. CONCLUSION: The nursing diagnoses obtained identified the main problems presented by the carriers of HIV/AIDS, verifying deficits in self-care and health education. This study contributes to guide the nursing interventions to be appropriated and targeted to existing needs.

  4. Moderating Effects of Challenging Behaviors and Communication Deficits on Social Skills in Children Diagnosed with an Autism Spectrum Disorder

    Science.gov (United States)

    Matson, Johnny L.; Hess, Julie A.; Mahan, Sara

    2013-01-01

    One-hundred nine children 3-16 years of age diagnosed with Autistic Disorder, Pervasive Developmental Disorder Not Otherwise Specified, or Asperger's Syndrome were studied. Children resided in six states in the United States. Using moderation analysis via multiple regression, verbal communication and challenging behaviors and how they interact…

  5. [Differentiation Study of Chinese Medical Syndrome Typing for Diarrhea-predominant Irritable Bowel Syndrome Based on Information of Four Chinese Medical Diagnostic Methods and Brain-gut Peptides].

    Science.gov (United States)

    Wu, Hao-meng; Xu, Zhi-wei; Ao, Hai-qing; Shi, Ya-fei; Hu, Hai-yan; Ji, Yun-peng

    2015-10-01

    To establish discriminant functions of diarrhea-predominant irritable bowel syndrome (IBS-D) by studying it from quantitative diagnosis angle, hoping to reduce interference of subjective factors in diagnosing and differentially diagnosing Chinese medical syndromes of IBS-D. A Chinese medical clinical epidemiological survey was carried out in 439 IBS-D patients using Clinical Information Collection Table of IBS. Initial syndromes were obtained by cluster analysis. They were analyzed using step-by-step discrimination by taking information of four Chinese medical diagnostic methods and serum brain-gut peptides (BGP) as variables. Clustering results were Gan stagnation Pi deficiency syndrome (GSPDS), Pi-Wei weakness syndrome (PWWS), Gan stagnation qi stasis syndrome (GSQSS), Pi-Shen yang deficiency syndrome (PSYDS), Pi-Wei damp-heat syndrome (PWDHS), cold-damp disturbing Pi syndrome (CDDPS). Of them, GSPDS was mostly often seen with effective percentage of 34. 2%, while CDDPS was the least often seen with effective percentage of 5.5%. A total of 5 discriminant functions for GSPDS, PWWS, GSQSS, PSYDS, and PWDHS were obtained by step-by-step dis- crimination method. The retrospective misjudgment rate was 4.1% (16/390), while the cross-validation misjudgment rate was 15.4% (60/390). The establishment of discriminant functions is of value in objectively diagnosing and differentially diagnosing Chinese medical syndromes of IBS-D.

  6. Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III.

    Science.gov (United States)

    Cheng, Jem L; Au, Jason S; Guzman, Juan C; Morillo, Carlos A; MacDonald, Maureen J

    2017-04-01

    The cardiovascular profile of postural orthostatic tachycardia syndrome + Ehlers-Danlos syndrome hypermobility type (POTS + EDSIII) has not been described, despite suggestions that it plays a role in orthostatic intolerance. We studied nine individuals diagnosed with POTS + EDSIII and found that the arterial stiffness and cardiac profiles of patients with POTS + EDSIII were comparable to those of age- and sex-matched controls, suggesting an alternate explanation for orthostatic intolerance.

  7. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

    Science.gov (United States)

    Poirsier, Céline; Besseau-Ayasse, Justine; Schluth-Bolard, Caroline; Toutain, Jérôme; Missirian, Chantal; Le Caignec, Cédric; Bazin, Anne; de Blois, Marie Christine; Kuentz, Paul; Catty, Marie; Choiset, Agnès; Plessis, Ghislaine; Basinko, Audrey; Letard, Pascaline; Flori, Elisabeth; Jimenez, Mélanie; Valduga, Mylène; Landais, Emilie; Lallaoui, Hakima; Cartault, François; Lespinasse, James; Martin-Coignard, Dominique; Callier, Patrick; Pebrel-Richard, Céline; Portnoi, Marie-France; Busa, Tiffany; Receveur, Aline; Amblard, Florence; Yardin, Catherine; Harbuz, Radu; Prieur, Fabienne; Le Meur, Nathalie; Pipiras, Eva; Kleinfinger, Pascale; Vialard, François; Doco-Fenzy, Martine

    2016-06-01

    Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ∼66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.

  8. Skip segment Hirschsprung disease and Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Erica R. Gross

    2015-04-01

    Full Text Available Skip segment Hirschsprung disease describes a segment of ganglionated bowel between two segments of aganglionated bowel. It is a rare phenomenon that is difficult to diagnose. We describe a recent case of skip segment Hirschsprung disease in a neonate with a family history of Waardenburg syndrome and the genetic profile that was identified.

  9. Endogenous thrombin potential in polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Aziz, Mubeena; Sidelmann, Johannes Jakobsen; Wissing, Marie Louise Muff

    2015-01-01

    OBJECTIVES: The objective of this study is to investigate plasma endogenous thrombin generation in four different phenotypes of polycystic ovary syndrome (PCOS) defined by Body Mass Index (BMI) and insulin resistance (IR). PCOS is diagnosed according to the Rotterdam criteria. DESIGN: Multicenter...

  10. Fetal Alcohol Syndrome in Adolescents and Adults.

    Science.gov (United States)

    Bert, Cynthia R. Greene; Bert, Minnie

    Persons with fetal alcohol syndrome (FAS) may be diagnosed at birth based on specific symptoms and anomalies. These are history of prenatal alcohol exposure, mental retardation, central nervous system dysfunctions, growth deficiency, particular physical anomalies, and speech and language anomalies. With aging, cranial and skeletal anomalies become…

  11. Skip segment Hirschsprung disease and Waardenburg syndrome

    OpenAIRE

    Gross, Erica R.; Geddes, Gabrielle C.; McCarrier, Julie A.; Jarzembowski, Jason A.; Arca, Marjorie J.

    2015-01-01

    Skip segment Hirschsprung disease describes a segment of ganglionated bowel between two segments of aganglionated bowel. It is a rare phenomenon that is difficult to diagnose. We describe a recent case of skip segment Hirschsprung disease in a neonate with a family history of Waardenburg syndrome and the genetic profile that was identified.

  12. Churg-Strauss syndrome: a case report*

    Science.gov (United States)

    Fernandes, Gabriel Lacerda; Teixeira, Arivaldo Araújo; Antón, Ana Graziela Santana; Reis, Alan Timóteo Rodrigues; de Freitas, Ana Carolina Rezende; Basílio, Dunya Bachour

    2014-01-01

    Churg-Strauss syndrome is a rare systemic disease primarily characterized by hypereosinophilia, asthma and vasculitis. The lung is the organ most frequently involved. In the present report, the authors describe a relatively rare finding in this disease - the presence of a pulmonary nodule -, while recalling the main radiological findings and the most relevant differential diagnoses. PMID:25741095

  13. Churg-Strauss syndrome: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Fernandes, Gabriel Lacerda; Reis, Alan Timoteo Rodrigues; Freitas, Ana Carolina Rezende de; Basilio, Dunya Bachour, E-mail: lacerdagabriel@hotmail.com [Hospital de Base do Distrito Federal (HBDF), Brasilia, DF (Brazil); Teixeira, Arivaldo Araujo [Diagnostico das Americas (DASA/Exame-Pasteur), Brasilia, DF (Brazil); Anton, Ana Graziela Santana [Hospital Brasilia, Brasilia, DF (Brazil)

    2014-07-15

    Churg-Strauss syndrome is a rare systemic disease primarily characterized by hypereosinophilia, asthma and vasculitis. The lung is the organ most frequently involved. In the present report, the authors describe a relatively rare finding in this disease - the presence of a pulmonary nodule -, while recalling the main radiological findings and the most relevant differential diagnoses. (author)

  14. Aging in Rare Intellectual Disability Syndromes

    Science.gov (United States)

    Dykens, Elisabeth M.

    2013-01-01

    This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

  15. Vellykket konservativt behandlet caecumperforation ved Ogilvies syndrom

    DEFF Research Database (Denmark)

    Lang, Christian Lyngsaa; Haveman, Maria Cecilie; Achiam, Michael

    2013-01-01

    The case report describes a 37-year-old woman who was diagnosed with Ogilvie's syndrome after caesarean section. Conservative treatment was initiated with minimal effect, and the patient was subsequently treated with IV neostigmine. A computed tomography of the abdomen revealed enlarged peritonea...

  16. Shaken baby syndrome; Shaken-baby-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Reith, W.; Ahlhelm, F.; Papanagiotou, P. [Universitaetsklinikum des Saarlandes, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany); Rohrer, T. [Universitaetsklinikum des Saarlandes, Klinik fuer Allgemeine Paediatrie und Neonatologie, Homburg/Saar (Germany)

    2009-10-15

    Shaken baby syndrome (SBS) describes the coincidence of subdural hematoma, retinal bleeding and, disadvantageous for the prognosis, diffuse brain damage caused by powerful shaking of the infant. The clinical symptoms include irritability, difficulty with drinking, somnolence, apathy, cerebral cramp attacks, apnoea, temperature regulation disorders and vomiting due to cranial pressure. Milder symptoms of SBS are often not diagnosed and the number of unregistered cases is probably much greater. The diagnosis of SBS is made through the typical symptom constellation, but the lack of retinal bleeding does not exclude the diagnosis. Normally the infants are held by the thorax or upper arms and shaken in a sagittal direction during which the head falls backwards and forwards and is stopped abruptly at each extreme position. The injurious mechanism is considered to be caused by rotational forces which force tissue layers in the brain against each other and also lead to rupture of bridging veins between the skull and the brain. The prognosis is poor and approximately 25% of infants die of SBS within days or weeks. Approximately 75% of survivors suffer from long term damage with physical handicaps, limitations in hearing, visual disturbances up to blindness and mental disorders or combinations of these conditions. Prevention is therefore the most important aspect. (orig.) [German] Das Shaken-baby-Syndrom (SBS) oder Schuetteltrauma des Saeuglings beschreibt die Koinzidenz subduraler Haematome, retinaler Blutungen und prognostisch unguenstiger, diffuser Hirnschaeden durch heftiges Schuetteln eines Saeuglings. Die klinischen Symptome umfassen Irritabilitaet, Trinkschwierigkeiten, Somnolenz, Apathie, zerebrale Krampfanfaelle, Apnoe, Temperaturregulationsstoerungen und Erbrechen durch Hirndruck. Leichtere Symptome des SBS werden haeufig nicht diagnostiziert, die Dunkelziffer ist wahrscheinlich viel hoeher. Die Diagnose des SBS wird durch die typische Symptomkonstellation gestellt

  17. Determination of Nursing Diagnoses in Children of Agricultural Laborer Families in South Eastern Regions of Turkey.

    Science.gov (United States)

    Karatas, Hulya; Müller-Staub, Maria; Erdemir, Firdevs

    2018-01-01

    Identifying functional health patterns and nursing diagnoses of migrant agricultural laborer families. Interpretative-qualitative study based on interviews with 162 mothers of 0- to 2-year-old children in two Turkish provinces. Health perception-health management: growth and development, risk for being delayed; health maintenance, ineffective; health behavior, risk-prone; risk for contamination; risk for sudden infant death syndrome; and risk for injury. Nutritional-metabolic: Risk for infection; and breastfeeding, interrupted. Self-perception: risk for chronic low self-esteem, disturbed self-esteem; and powerlessness. Role-relationship: impaired parenting; and dysfunctional family process. Coping-stress tolerance: coping, disabled family; violence, risk for other-directed. Cognitive-perceptive: knowledge deficit CONCLUSIONS: Nursing diagnoses of this population were reported for the first time. Addressing agricultural laborer families' diagnoses will positively affect maternal-child health. © 2016 NANDA International, Inc.

  18. Syndrome identification based on 2D analysis software.

    Science.gov (United States)

    Boehringer, Stefan; Vollmar, Tobias; Tasse, Christiane; Wurtz, Rolf P; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Wieczorek, Dagmar

    2006-10-01

    Clinical evaluation of children with developmental delay continues to present a challenge to the clinicians. In many cases, the face provides important information to diagnose a condition. However, database support with respect to facial traits is limited at present. Computer-based analyses of 2D and 3D representations of faces have been developed, but it is unclear how well a larger number of conditions can be handled by such systems. We have therefore analysed 2D pictures of patients each being affected with one of 10 syndromes (fragile X syndrome; Cornelia de Lange syndrome; Williams-Beuren syndrome; Prader-Willi syndrome; Mucopolysaccharidosis type III; Cri-du-chat syndrome; Smith-Lemli-Opitz syndrome; Sotos syndrome; Microdeletion 22q11.2; Noonan syndrome). We can show that a classification accuracy of >75% can be achieved for a computer-based diagnosis among the 10 syndromes, which is about the same accuracy achieved for five syndromes in a previous study. Pairwise discrimination of syndromes ranges from 80 to 99%. Furthermore, we can demonstrate that the criteria used by the computer decisions match clinical observations in many cases. These findings indicate that computer-based picture analysis might be a helpful addition to existing database systems, which are meant to assist in syndrome diagnosis, especially as data acquisition is straightforward and involves off-the-shelf digital camera equipment.

  19. Neonatal Marfan syndrome: Report of two cases.

    Science.gov (United States)

    Jurko, Tomas; Jurko, Alexander; Minarik, Milan; Micieta, Vladimir; Tonhajzerova, Ingrid; Kolarovszka, Hana; Zibolen, Mirko

    2017-07-01

    Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance. Both infants had significant cardiovascular abnormalities diagnosed by ultrasonography. Genetic DNA analysis in the second case confirmed the mutations in the fibrillin-1 gene located on chromosome 15q21 which is responsible for the development of Marfan syndrome. The boy died at six weeks of age with signs of rapidly progressive left ventricular failure associated with pneumonia. The second infant was having only mild signs of congestive heart failure and has been treated with beta blockers. At the age of 4 years her symptoms of congestive heart failure had worsened due to progression of mitral and tricuspid insufficiency and development of significant cardiomegaly. Mitral and tricuspid valvuloplasy had to be done at that time. Early diagnosis of Marfan syndrome in the newborn period can allow treatment in the early stages of cardiovascular abnormalities and may improve the prognosis. It also helps to explain to the family the serious health problem of their child.

  20. Influence of traditional Chinese medicine syndrome groups on quality of life in women with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Li-Wen Huang

    2016-10-01

    Full Text Available Traditional Chinese medicine (TCM; 中醫 zhōng yī syndrome groups are based on the symptoms of human diseases and guide the use of Chinese herbs. The aim of this study was to examine the effects of TCM syndrome groups on biochemical characteristics and quality of life (QOL in women with metabolic syndrome (MS. Among the 1080 registered female patients screened at our outpatient clinic, a total of 322 women aged between 18 and 65 years and meeting the requirements of MS were enrolled. All the patients were asked to fill out a questionnaire on metabolic TCM syndrome groups and a questionnaire on the QOL, the Medical Outcomes Study (MOS Short Form-12 (SF-12. Data of biochemical characteristics were collected at the same time. The present study showed MS women in TCM syndrome groups had significantly lower physical and mental component scores in SF-12 compared with those not in TCM syndrome groups. We also found MS patients in TCM syndrome groups, except Kidney Deficiency syndrome, showed higher body mass indexes, waist circumference, and hip circumference. However, there was almost no difference in most biochemical characteristics between TCM syndrome groups. The MS patients diagnosed as belonging to TCM syndrome groups had poor QOL.