WorldWideScience

Sample records for syndrome differential diagnosis

  1. Angelman Syndrome. Part 3 (Differential Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    O.Ye. Abaturov

    2015-10-01

    Full Text Available The article discusses the problem of differential diagnosis and treatment of patients with Angelman syndrome (AS. It provides the most common syndromes with similar to AS phenotypes, the main differences between AS-like syndromes, indicating the causative gene. Much attention is given to the basic directions of treating patients with Angelman syndrome: organization of regime, syndromic treatment, providing psychological, speech therapy, orthopedic services, occupational therapy, activities aimed at social adaptation. This article contains the latest information about modern progressive directions of AS medical management. To optimize the diagnostic and therapeutic process, data about international Angelman syndrome foundations are shown.

  2. Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

  3. Parkinsonian syndroms: Clinical phenotype, differential diagnosis and disease progression

    International Nuclear Information System (INIS)

    Storch, A.

    2002-01-01

    Parkinsonian syndromes include idiopathic Parkinson's disease (IPD), other neurodegenerative diseases with parkinsonism, the so-called atypical parkinsonian syndromes, and symptomatic parkinsonian syndromes, such as Wilson's disease. IPD is the most frequent disease with parkinsonism as the main clinical feature and is responsible for approx. 80% of all parkinsonian syndromes. Atypical parkinsonian syndromes are the most important differential diagnoses of IPD. The two most frequent types are multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). For clinical diagnosis it is essential to take a careful medical history and to examine the patients physically in regular intervals. However, various clinico-pathological studies have shown that approx. 25% of patients with clinical diagnosis of IPD may have other causes of parkinsonism. Selected technical investigations, in particular functional imaging of the central dopaminergic system using PET or SPECT, may help to make clinical diagnosis more secure. This paper reviews the clinical features and diagnostic findings in diseases with parkinsonism and summarises the difficulties in establishing early and differential diagnoses. (orig.) [de

  4. Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis

    Directory of Open Access Journals (Sweden)

    Christine Zomer Dal Molin

    Full Text Available Abstract The main causes of hypokalemia are usually evident in the clinical history of patients, with previous episodes of vomiting, diarrhea or diuretic use. However, in some patients the cause of hypokalemia can become a challenge. In such cases, two major components of the investigation must be performed: assessment of urinary excretion potassium and the acid-base status. This article presents a case report of a patient with severe persistent hypokalemia, complementary laboratory tests indicated that's it was hypomagnesaemia and hypocalciuria associated with metabolic alkalosis, and increase of thyroid hormones. Thyrotoxic periodic paralysis was included in the differential diagnosis, but evolved into euthyroid state, persisting with severe hypokalemia, which led to be diagnosed as Gitelman syndrome.

  5. Differential diagnosis of myelodysplastic syndrome and aplastic anemia using MRI

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Seung Eun; Park, Jung Mi; Lee, Jae Mun; Kim, Ki Tae; Kim, Dong Wook; Kim, Chun Choo; Kim, Chun Yul; Shinn, Kyung Sub [Catholic University Medical College, Seoul (Korea, Republic of)

    1995-04-15

    To assess the patterns of myelodysplastic syndrome (MDS) and aplastic anemia (AA) on MRI of the spinal bone marrow and to find the differential points between the two groups. Fourteen patients with MDS (n=7) and AA (n=7) were studied using magnetic resonance imaging. Sagittal images from the lower thoracic and lumbar vertebral marrow were evaluated on T1-weighted and STIR images. Five distinct patterns of signal intensity of the T1-weighted and STIR images were classified. T1 and T2 relaxation times and T1 marrow/fat signal intensity ratio were measured and analyzed (t-test). The cellularity of bone marrow was evaluated on histologic slides. MDS showed homogeneously low signal intensity on T1WI and high signal intensity on STIR image, indicating hypercellular marrow, whereas AA showed relative high signal intensity on T1WI and low signal intensity on STIR image, representing fatty marrow. T1 and T2 relaxation time (T1 for MDS=750.26 msec {+-} 177.50, T1 for AA=413.21 msec {+-} 167.39 ({rho} < 0.000), T2 for MDS=91.86 msec {+-} 14.16, T2 for AA=81.44 msec {+-} 15.31 ({rho} < 0.001) and T1 marrow/fat signal intensity ratio (0.22 {+-} 0.048 in MDS, 0.30 {+-} 0.083 in AA ({rho} < 0.000) revealed statistically significant difference between the two groups. Although the marrow aspiration and needle biopsy are mandatory in hematologic disease for diagnosis, there are limited in assessing the change of total marrow mass. Therefore MRI of bone marrow might be useful in distinguishing MDS from AA because of its ability of representation of total marrow mass.

  6. Differential diagnosis of myelodysplastic syndrome and aplastic anemia using MRI

    International Nuclear Information System (INIS)

    Jung, Seung Eun; Park, Jung Mi; Lee, Jae Mun; Kim, Ki Tae; Kim, Dong Wook; Kim, Chun Choo; Kim, Chun Yul; Shinn, Kyung Sub

    1995-01-01

    To assess the patterns of myelodysplastic syndrome (MDS) and aplastic anemia (AA) on MRI of the spinal bone marrow and to find the differential points between the two groups. Fourteen patients with MDS (n=7) and AA (n=7) were studied using magnetic resonance imaging. Sagittal images from the lower thoracic and lumbar vertebral marrow were evaluated on T1-weighted and STIR images. Five distinct patterns of signal intensity of the T1-weighted and STIR images were classified. T1 and T2 relaxation times and T1 marrow/fat signal intensity ratio were measured and analyzed (t-test). The cellularity of bone marrow was evaluated on histologic slides. MDS showed homogeneously low signal intensity on T1WI and high signal intensity on STIR image, indicating hypercellular marrow, whereas AA showed relative high signal intensity on T1WI and low signal intensity on STIR image, representing fatty marrow. T1 and T2 relaxation time (T1 for MDS=750.26 msec ± 177.50, T1 for AA=413.21 msec ± 167.39 (ρ < 0.000), T2 for MDS=91.86 msec ± 14.16, T2 for AA=81.44 msec ± 15.31 (ρ < 0.001) and T1 marrow/fat signal intensity ratio (0.22 ± 0.048 in MDS, 0.30 ± 0.083 in AA (ρ < 0.000) revealed statistically significant difference between the two groups. Although the marrow aspiration and needle biopsy are mandatory in hematologic disease for diagnosis, there are limited in assessing the change of total marrow mass. Therefore MRI of bone marrow might be useful in distinguishing MDS from AA because of its ability of representation of total marrow mass

  7. [New insights in the differential diagnosis of bladder pain syndrome].

    Science.gov (United States)

    Schwalenberg, T; Neuhaus, J; Horn, L-C; Alexander, H; Zimmermann, G; Ho Thi, P; Mallock, T; Stolzenburg, J-U

    2010-03-01

    The diagnosis of bladder pain syndrome/interstitial cystitis (BPS/IC) is challenging, since pathogenetic mechanisms and the definition of clinical relevant parameters are still under lively discussion. The criteria recently proposed by the European Society for the Study of Interstitial Cystitis (ESSIC) define a collective of patients based on the cardinal symptom of bladder pain which is heterogeneous, and therefore cannot receive standardised consistent therapy. Thus an extended diagnosis based on molecular markers seems to be indicated to render individual pharmacotherapy possible, and to contribute to elucidation of BPS/IC pathogenesis. For this purpose we feel the vital need for taking a bladder biopsy. The diagnosis of BPS/IC should rely on 3 "columns": (1) clinical diagnostics; (2) histopathology; (3) molecular diagnostics/protein expression. Since a significant contribution of the 3 functional units of the bladder to the pathophysiology is most evident, the examinations should ideally include urothelium, lamina propria, and detrusor musculature. Generation of receptor profiles of the detrusor muscle represents a first attempt to define a diagnostic tool for the individualisation of BPS/IC pharmacotherapy. Other factors, e.g., beta-hCG expression in the urothelium, need further evaluation. Extended BPS/IC diagnostics could be realistically integrated into routine patient care within a clinic/laboratory network. Georg Thieme Verlag Stuttgart New York.

  8. ON DIFFERENTIAL DIAGNOSIS BETWEEN AUTISTIC DISORDER AND ASPERGER’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Stefan Todorov

    2012-11-01

    Full Text Available The differential diagnosis between Autistic disorder (AD and Asperger’s syndrome (AS in most cases is quite difficult since most of the symptoms are clinically undistinguished. Several factors complicate the diagnosis of AS- an autism spectrum disorder (ASD. It is considered by some authors to be simply a milder version of autistic disorder. Problems in diagnosis include disagreement among diagnostic criteria, controversy over the distinction between AS and other ASD forms or even whether AS exists as a separate syndrome, and over- and under-diagnosis. Our paper is based on the diagnostic and differential diagnostic criteria of DSM-IV, ICD-10 and our clinical experience.In the process of diagnosis and differential diagnosis we, naturally, illustrate and discuss the similarities and differences between the two disorders.

  9. [MELAS syndrome as a differential diagnosis of ischemic stroke].

    Science.gov (United States)

    Finsterer, J

    2009-01-01

    Mitochondrial encephalomyopathy, lactacidosis and stroke-like episode (MELAS) syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder with a clinical onset between the first and third decade. The clinical hallmark is the stroke-like-episode, which mimicks ischemic stroke but is usually transient and non-disabling in nature. The morphological equivalent on MRI is a T2-hyperintensity, predominantly over the temporo-parieto-occipital region, not confined to a vascular territory, which is also hyperintense on diffusion weighted imaging and on apparent diffusion coefficient sequences (vasogenic edema, stroke-like lesion). Additional features include seizures, cognitive decline, psychosis, lactic acidosis, migraine, visual impairment, hearing loss, short stature, diabetes, or myopathy. Muscle biopsy typically shows ragged-red fibers, COX-negative fibers, SDH hyperreactivity, and abnormally shaped mitochondria with paracristalline inclusions. The diagnosis is confirmed by demonstration of a biochemical respiratory chain defect or one of the disease-causing mutations, of which 80 % affect the mitochondrial tRNALeu gene.

  10. [Differential diagnosis of polyarthritis pain syndrome of the locomotor apparatus].

    Science.gov (United States)

    Menninger, H

    1998-02-28

    Widespread pain syndromes of the musculoskeletal system present to general practitioners, internists, neurologists and orthopedic surgeons every day. The syndromes may result both from organic diseases (inflammatory joint diseases, rheumatic manifestations of organ diseases) as well as dysfunctional syndromes, the latter including mainly biomechanically induced syndromes and fibromyalgia. The approach is predominantly clinically oriented and requires laboratory means or technical procedures only in a limited extend. The duration of history, the recognition of synovitis and of myofascial trigger points or of integumental tender points allow in most patients to achieve appropriate diagnostic criteria.

  11. Eosinophilic granulomatosis with polyangiitis (formerly known as Churg-Strauss syndrome as a differential diagnosis of hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Yuri Albuquerque Pessoa Santos

    2017-01-01

    Full Text Available Eosinophilic granulomatosis with polyangiitis (EGPA, formerly known as Churg-Strauss syndrome, is a rare systemic disease situated between primary small vessel vasculitides associated with antineutrophil cytoplasmic antibodies (ANCAs and hypereosinophilic syndromes (HES. Here, we present a case of EGPA in a 38-year-old male, with a previous diagnosis of asthma, who presented with fever, migratory lung infiltrates and systemic eosinophilia that was refractory to previous courses of antibiotics. This case highlights the importance of the primary care physician understanding the differential diagnosis of pulmonary eosinophilic syndromes.

  12. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

    Science.gov (United States)

    Matsunoshita, Natsuki; Nozu, Kandai; Shono, Akemi; Nozu, Yoshimi; Fu, Xue Jun; Morisada, Naoya; Kamiyoshi, Naohiro; Ohtsubo, Hiromi; Ninchoji, Takeshi; Minamikawa, Shogo; Yamamura, Tomohiko; Nakanishi, Koichi; Yoshikawa, Norishige; Shima, Yuko; Kaito, Hiroshi; Iijima, Kazumoto

    2016-02-01

    Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS (p-BS/GS), which are clinically difficult to distinguish. We aimed to clarify the differences between these diseases, allowing accurate diagnosis based on their clinical features. A total of 163 patients with genetically defined type III BS (n = 30), GS (n = 90), and p-BS/GS (n = 43) were included. Age at diagnosis, sex, body mass index, estimated glomerular filtration rate, and serum and urine electrolyte concentrations were determined. Patients with p-BS/GS were significantly older at diagnosis than those with type III BS and GS. Patients with p-BS/GS included a significantly higher percentage of women and had a lower body mass index and estimated glomerular filtration rate than did patients with GS. Although hypomagnesemia and hypocalciuria were predominant biochemical findings in patients with GS, 17 and 23% of patients with type III BS and p-BS/GS, respectively, also showed these abnormalities. Of patients with type III BS, GS, and p-BS/GS, 40, 12, and 63%, respectively, presented with chronic kidney disease. This study clarified the clinical differences between BS, GS, and p-BS/GS for the first time, which will help clinicians establish differential diagnoses for these three conditions.

  13. Brain MR Contribution to the Differential Diagnosis of Parkinsonian Syndromes: An Update

    Directory of Open Access Journals (Sweden)

    Giovanni Rizzo

    2016-01-01

    Full Text Available Brain magnetic resonance (MR represents a useful and feasible tool for the differential diagnosis of Parkinson’s disease. Conventional MR may reveal secondary forms of parkinsonism and may show peculiar brain alterations of atypical parkinsonian syndromes. Furthermore, advanced MR techniques, such as morphometric-volumetric analyses, diffusion-weighted imaging, diffusion tensor imaging, tractography, proton MR spectroscopy, and iron-content sensitive imaging, have been used to obtain quantitative parameters useful to increase the diagnostic accuracy. Currently, many MR studies have provided both qualitative and quantitative findings, reflecting the underlying neuropathological pattern of the different degenerative parkinsonian syndromes. Although the variability in the methods and results across the studies limits the conclusion about which technique is the best, specific radiologic phenotypes may be identified. Qualitative/quantitative MR changes in the substantia nigra do not discriminate between different parkinsonisms. In the absence of extranigral abnormalities, the diagnosis of PD is more probable, whereas basal ganglia changes (mainly in the putamen suggest the diagnosis of an atypical parkinsonian syndrome. In this context, changes in pons, middle cerebellar peduncles, and cerebellum suggest the diagnosis of MSA, in midbrain and superior cerebellar peduncles the diagnosis of PSP, and in whole cerebral hemispheres (mainly in frontoparietal cortex with asymmetric distribution the diagnosis of Corticobasal Syndrome.

  14. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

    Directory of Open Access Journals (Sweden)

    Daniela Cardoso Pereira

    2013-01-01

    Full Text Available Treacher-Collins syndrome (TCS is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  15. Herlyn-werner-wunderlich syndrome: MRI findings, radiological guide (two cases and literature review), and differential diagnosis

    International Nuclear Information System (INIS)

    Del Vescovo, Riccardo; Battisti, Sofia; Di Paola, Valerio; Piccolo, Claudia L; Cazzato, Roberto L; Sansoni, Ilaria; Grasso, Rosario F; Zobel, Bruno Beomonte

    2012-01-01

    Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract involving Müllerian ducts and Wolffian structures, and it is characterized by the triad of didelphys uterus, obstructed hemivagina and ipsilateral renal agenesis. It generally occurs at puberty and exhibits non-specific and variable symptoms with acute or pelvic pain shortly following menarche, causing a delay in the diagnosis. Moreover, the diagnosis is complicated by the infrequency of this syndrome, because Müllerian duct anomalies (MDA) are infrequently encountered in a routine clinical setting. two cases of HWW syndrome in adolescents and a differential diagnosis for one case of a different MDA, and the impact of magnetic resonance (MR) imaging technology to achieve the correct diagnosis. MR imaging is a very suitable diagnostic tool in order to perform the correct diagnosis of HWW syndrome

  16. Differential Diagnosis and Management of Incomplete Locked-In Syndrome after Traumatic Brain Injury

    Directory of Open Access Journals (Sweden)

    Lauren Surdyke

    2017-01-01

    Full Text Available Locked-in syndrome (LIS is a rare diagnosis in which patients present with quadriplegia, lower cranial nerve paralysis, and mutism. It is clinically difficult to differentiate from other similarly presenting diagnoses with no standard approach for assessing such poorly responsive patients. The purpose of this case is to highlight the clinical differential diagnosis process and outcomes of a patient with LIS during acute inpatient rehabilitation. A 32-year-old female was admitted following traumatic brain injury. She presented with quadriplegia and mutism but was awake and aroused based on eye gaze communication. The rehabilitation team was able to diagnose incomplete LIS based on knowledge of neuroanatomy and clinical reasoning. Establishing this diagnosis allowed for an individualized treatment plan that focused on communication, coping, family training, and discharge planning. The patient was ultimately able to discharge home with a single caregiver, improving her quality of life. Continued evidence highlights the benefits of intensive comprehensive therapy for those with acquired brain injury such as LIS, but access is still limited for those with a seemingly poor prognosis. Access to a multidisciplinary, specialized team provides opportunity for continued assessment and individualized treatment as the patient attains more medical stability, improving long-term management.

  17. A rare differential diagnosis to occupational neck pain: bilateral stylohyoid syndrome

    Directory of Open Access Journals (Sweden)

    Vogel Tobias

    2006-06-01

    Full Text Available Abstract Chronic neck pain is widely prevalent and a common source of disability in the working-age population. Etiology of chronic neck pain includes neck sprain, mechanical or muscular neck pain, myofascial pain syndrome, postural neck pain as well as pain due to degenerative changes. We report the case of a 42 year old secretary, complaining about a longer history of neck pain and limited movement of the cervical spine. Surprisingly, the adequate radiologic examination revealed a bilateral ossification of the stylohyoid ligament complex. Her symptoms remained intractable from conservative treatment consisting of anti-inflammatory medication as well as physical therapy. Hence the patient was admitted to surgical resection of the ossified stylohyoid ligament complex. Afterwards she was free of any complaints and went back to work. Therefore, ossification of the stylohyoid ligament complex causing severe neck pain and movement disorder should be regarded as a rare differential diagnosis of occupational related neck pain.

  18. Differential diagnosis of adrenocorticotropic hormone-independent Cushing syndrome: role of adrenal venous sampling.

    Science.gov (United States)

    Martins, Raquel G; Agrawal, Reshma; Berney, Daniel M; Reznek, Rodney; Matson, Matthew; Grossman, Ashley B; Druce, Maralyn R

    2012-01-01

    To outline the potential role for adrenal venous sampling in the diagnosis and management of adrenocorticotropic hormone (ACTH)-independent Cushing syndrome (CS). We present a case description and discuss the management of a 59-year-old woman with an 8-year history of weight gain, centripetal obesity, a round plethoric face, skin thinning, easy bruising, hirsutism, and progressive muscle weakness. The patient reported a prior personal history of asthma, type 2 diabetes mellitus, hypertension, dyslipidemia, and bilateral leg ulcers, but she denied having any personal or family history of endocrinopathy and was not taking any corticosteroid medication. Elevated midnight serum cortisol, failure to suppress cortisol levels with a low-dose dexamethasone suppression test, and undetectable plasma ACTH all indicated ACTH-independent CS. Additional investigations including dynamic tests and adrenal imaging were supported by adrenal venous sampling in order to make a diagnosis and formulate a management plan. She was ultimately noted to have bilateral functioning adrenal nodules (adenoma and adenolipoma) and underwent successful bilateral laparoscopic adrenalectomy, with postoperative glucocorticoid and mineralocorticoid replacement. Adrenal venous sampling may be an important step in the differential diagnosis of CS and localization of the source of cortisol excess. It may distinguish pheochromocytoma or benign nonfunctioning adrenal nodules from cortisol-secreting adenomas and may avoid unnecessary bilateral adrenalectomy. It can also ensure that the correct operation is completed, if required, and thus avoid the increased morbidity and mortality associated with repeated surgical interventions.

  19. [Posterior reversible encephalopathy syndrome and cerebrovascular constriction syndrome in the differential diagnosis of post-partum headaches].

    Science.gov (United States)

    Ruiz López, N; Cano Hernández, B; Balbás Álvarez, S

    2016-02-01

    Postpartum headache can be due to many causes. In a patient with previous epidural analgesia, the headache can be attributed to post-dural puncture headache, even if the symptoms are not typical of this clinical entity. We report a case of a post-partum with accidental dural tap during the insertion of an epidural catheter for labour analgesia, and who referred to headaches in the third post-partum day. Initially, a post-dural puncture headache was suspected, but the subsequent onset of seizures and visual impairment meant that the diagnosis had to be reconsidered. In this case report, the clinical and pathophysiological features of posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome, as well as the differential diagnosis of post-partum headaches are described. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  20. Differential diagnosis

    Directory of Open Access Journals (Sweden)

    Abdallah Adra

    2016-09-01

    Full Text Available Abnormal uterine bleeding may be acute or chronic accounting for up to 30% of outpatient visits to gynecologists. Hyperprolactinemia is one of the most common endocrine disorders associated with ovulatory dysfunction that results in menstrual irregularities. Prior to initiating treatment, the various causes (physiologic, pathologic, pharmacologic, or idiopathic of hyperprolactinemia must be elucidated. Prolactin is a stress hormone that increases in response to stressful conditions; therefore, while collecting samples it is necessary to reduce venipuncture stress. A thorough patient history and physical examination will help to identify the cause and to direct therapy. Imaging results must always be assessed along with a patient’s clinical history and biochemical parameters when a pituitary tumor is suspected. Magnetic resonance imaging is the method of choice for the diagnosis of microprolactinomas and macroprolactinomas in both initial assessment and follow-up. Several drugs may cause a significant increase in serum prolactin concentration. If clinically feasible, the drug should be discontinued; if this is not possible, it should be substituted with a drug of similar action that does not cause hyperprolactinemia. Prolactinomas are the most common cause of pituitary adenomas affecting women of fertile age leading to significant elevations in prolactin that warrant treatment. Idiopathic hyperprolactinemia may be observed in the presence of elevated serum prolactin levels and in the absence of any other recognized cause of increased prolactin secretion. Dopamine agonists are the mainstay of therapy in prolactinomas and symptomatic idiopathic hyperprolactinemia because they normalize serum prolactin, effectively shrink prolactinomas and normalize gonadal function (i.e. menstruation.

  1. New Aspects in the Differential Diagnosis and Therapy of Bladder Pain Syndrome/Interstitial Cystitis

    Directory of Open Access Journals (Sweden)

    Jochen Neuhaus

    2011-01-01

    Full Text Available Diagnosis of bladder pain syndrome/interstitial cystitis (BPS/IC is presently based on mainly clinical symptoms. BPS/IC can be considered as a worst-case scenario of bladder overactivity of unknown origin, including bladder pain. Usually, patients are partially or completely resistant to anticholinergic therapy, and therapeutical options are especially restricted in case of BPS/IC. Therefore, early detection of patients prone to develop BPS/IC symptoms is essential for successful therapy. We propose extended diagnostics including molecular markers. Differential diagnosis should be based on three diagnostical “columns”: (i clinical diagnostics, (ii histopathology, and (iii molecular diagnostics. Analysis of molecular alterations of receptor expression in detrusor smooth muscle cells and urothelial integrity is necessary to develop patient-tailored therapeutical concepts. Although more research is needed to elucidate the pathomechanisms involved, extended BPS/IC diagnostics could already be integrated into routine patient care, allowing evidence-based pharmacotherapy of patients with idiopathic bladder overactivity and BPS/IC.

  2. New Aspects in the Differential Diagnosis and Therapy of Bladder Pain Syndrome/Interstitial Cystitis

    Science.gov (United States)

    Neuhaus, Jochen; Schwalenberg, Thilo; Horn, Lars-Christian; Alexander, Henry; Stolzenburg, Jens-Uwe

    2011-01-01

    Diagnosis of bladder pain syndrome/interstitial cystitis (BPS/IC) is presently based on mainly clinical symptoms. BPS/IC can be considered as a worst-case scenario of bladder overactivity of unknown origin, including bladder pain. Usually, patients are partially or completely resistant to anticholinergic therapy, and therapeutical options are especially restricted in case of BPS/IC. Therefore, early detection of patients prone to develop BPS/IC symptoms is essential for successful therapy. We propose extended diagnostics including molecular markers. Differential diagnosis should be based on three diagnostical “columns”: (i) clinical diagnostics, (ii) histopathology, and (iii) molecular diagnostics. Analysis of molecular alterations of receptor expression in detrusor smooth muscle cells and urothelial integrity is necessary to develop patient-tailored therapeutical concepts. Although more research is needed to elucidate the pathomechanisms involved, extended BPS/IC diagnostics could already be integrated into routine patient care, allowing evidence-based pharmacotherapy of patients with idiopathic bladder overactivity and BPS/IC. PMID:22028706

  3. New aspects in the differential diagnosis and therapy of bladder pain syndrome/interstitial cystitis.

    Science.gov (United States)

    Neuhaus, Jochen; Schwalenberg, Thilo; Horn, Lars-Christian; Alexander, Henry; Stolzenburg, Jens-Uwe

    2011-01-01

    Diagnosis of bladder pain syndrome/interstitial cystitis (BPS/IC) is presently based on mainly clinical symptoms. BPS/IC can be considered as a worst-case scenario of bladder overactivity of unknown origin, including bladder pain. Usually, patients are partially or completely resistant to anticholinergic therapy, and therapeutical options are especially restricted in case of BPS/IC. Therefore, early detection of patients prone to develop BPS/IC symptoms is essential for successful therapy. We propose extended diagnostics including molecular markers. Differential diagnosis should be based on three diagnostical "columns": (i) clinical diagnostics, (ii) histopathology, and (iii) molecular diagnostics. Analysis of molecular alterations of receptor expression in detrusor smooth muscle cells and urothelial integrity is necessary to develop patient-tailored therapeutical concepts. Although more research is needed to elucidate the pathomechanisms involved, extended BPS/IC diagnostics could already be integrated into routine patient care, allowing evidence-based pharmacotherapy of patients with idiopathic bladder overactivity and BPS/IC.

  4. Second-line tests in the differential diagnosis of ACTH-dependent Cushing's syndrome.

    Science.gov (United States)

    Barbot, Mattia; Trementino, Laura; Zilio, Marialuisa; Ceccato, Filippo; Albiger, Nora; Daniele, Andrea; Frigo, Anna Chiara; Mardari, Rodica; Rolma, Giuseppe; Boscaro, Marco; Arnaldi, Giorgio; Scaroni, Carla

    2016-10-01

    Diagnosing Cushing's syndrome (CS) can be a challenge, especially in ACTH-dependent CS, when it comes to detecting the origin of ACTH secretion. Retrospective data were collected on 170 patients with ACTH-dependent CS (149 CD, 21 EAS) referring to two endocrinology units, focusing on three non-invasive tests: dexamethasone 8 mg overnight challenge (HDDST); corticotrophin-releasing hormone (CRH) assay and the desmopressin (DDAVP) test. Patients with EAS were slightly older and had higher ACTH, serum and urinary cortisol levels than patients with CD (p 52.7 % below the basal level suggested a pituitary origin with a SE of 88 % (95 % CI 81-93) and a SP of 90 % (95 % CI 68-99). There were no cases of EAS with positive responses to both these tests. Increases in ACTH and cortisol levels after the DDAVP test were also higher in CD than in EAS (p < 0.01), though the SE and SP were lower. Patients with CD showed a stronger response to HDDST and CRH, and the adopted cut-offs showed a good SE and SP in discriminating them from patients with EAS. Concordant tests indicated CD when positive, whereas no response to either test was highly suggestive of EAS. The DDAVP test was of limited utility in the diagnostic phase. In conclusion, the choice of tests may play an important part in the differential diagnosis of ACTH-dependent CS.

  5. Differential diagnosis of hyponatraemia.

    LENUS (Irish Health Repository)

    Thompson, Chris

    2012-03-01

    The appropriate management of hyponatraemia is reliant on the accurate identification of the underlying cause of the hyponatraemia. In the light of evidence which has shown that the use of a clinical algorithm appears to improve accuracy in the differential diagnosis of hyponatraemia, the European Hyponatraemia Network considered the use of two algorithms. One was developed from a nephrologist\\'s view of hyponatraemia, while the other reflected the approach of an endocrinologist. Both of these algorithms concurred on the importance of assessing effective blood volume status and the measurement of urine sodium concentration in the diagnostic process. To demonstrate the importance of accurate diagnosis to the correct treatment of hyponatraemia, special consideration was given to hyponatraemia in neurosurgical patients. The differentiation between the syndrome of inappropriate antidiuretic hormone secretion (SIADH), acute adrenocorticotropic hormone (ACTH) deficiency, fluid overload and cerebral salt-wasting syndrome was discussed. In patients with SIADH, fluid restriction has been the mainstay of treatment despite the absence of an evidence base for its use. An approach to using fluid restriction to raise serum tonicity in patients with SIADH and to identify patients who are likely to be recalcitrant to fluid restriction was also suggested.

  6. CONTRIBUTION OF THE AUDIOLOGICAL AND VESTIBULAR ASSESSMENT TO THE DIFFERENTIAL AND ETIOLOGICAL DIAGNOSIS OF PERIPHERIC VESTIBULAR SYNDROMES

    Directory of Open Access Journals (Sweden)

    Loreta Ungureanu

    2012-09-01

    Full Text Available Scope of the study: Vestibular pathology is a complex one, requiring a minute clinical evaluation, as well as numerous paraclinical investigations. The present study analyzes the contribution of the modern methods of vestibular and auditive investigation to the diagnosis of dizziness. Materials and method: The results of the investigations performed on 84 patients with peripheric vestibular syndrome, on whom a complete audiological and vestibular assessment had been also made, have been retrospectively analyzed. Results: Anamnestic data and the results of evaluation permitted classification of peripheric vestibular pathology according to topo-lesional and etiological criteria. The most frequently diagnosed diseases were: benign paroxysmal positional vertigo, Ménière syndrome and vestibular neuronitis. Conclusions: Testing of the vestibulo-ocular and vestibulo-spinal reflexes through videonystagmoscopy and, respectively, computerized dynamic posturography, besides tonal vocal audiometry and precocious auditive potentials, is especially important for a positive diagnosis and etiological differentiation of vestibular syndromes.

  7. Gilbert’s syndrome: clinical features, diagnostics, differential diagnosis and treatment (part 2

    Directory of Open Access Journals (Sweden)

    T.V. Sorokman

    2017-02-01

    discoloration of the skin (“teinte bilieuse”, especially on the face, hands, and feet without a distinct scleral icterus. Sometimes the development of repeatedly intermittent episodes of jaundice with high bilirubinemia (indirect bilirubin without the evidence of hemolysis (differential diagnostic feature is observed. 2. A tendency to development of pigmented and vascular nevi and xanthelasma of the eyelids, and hyperpigmentation around the eyes; to bradycardia, hypothermia, migraine, postural, intermittent albuminuria or to alimentary glycosuria. 3. An increased tendency to pigmentation under the influence of light, heat, and also chemical and mechanical stimuli. 4. A neuromuscular hyperexcitability. 5. Increased sensitivity to cold. 6. Dyspeptic complaints (pain, nausea, abdominal bloa­ting, diarrhea or constipation. 7. No signs of increased hemolysis (differential diagnostic feature with increasing content in, bilirubin (differential diagnostic feature. 8. The majority of patients have normal liver function tests (differential diagnostic feature also normal bromsulphalein test is also normal (differential diagnostic feature. 9. The biochemical abnormality is not detected by histological methods (differential diagnostic feature .10. Frequently, a family disease of the liver is observed. The differential diagnosis of GS is conducted with all types of hyperbilirubinemias, hemolytic anemias, congenital hepatic cirrhosis, hepatitis, cholecystopathy, atresia of biliary ducts or the small intestine. Medications are used only in severe hyperbilirubinemias and as concomitant therapy in the presence of symptoms of vitamin deficiencies, violations of a motor-evacuation function of the upper digestive tract in the clinical picture and to prevent complications (cholelithiasis.

  8. Eagle's syndrome-A non-perceived differential diagnosis of temporomandibular disorder.

    Science.gov (United States)

    Thoenissen, P; Bittermann, G; Schmelzeisen, R; Oshima, T; Fretwurst, T

    2015-01-01

    This article unveils a case of the classic styloid syndrome and states that panoramic imaging and ultrasound can be an alternative to computed tomography. In addition, the endoscope-assisted extraoral approach using CT-based navigation is useful. Eagle's Syndrome is an aggregate of symptoms described by Eagle in 1937. He described different forms: the classic styloid syndrome consisting of elongation of the styloid process which causes pain. Second, the stylo-carotid-artery syndrome which is responsible for transient ischemic attack or stroke. Using the example of a 66 years old male patient suffering from long term pain, we explain our diagnostic and surgical approach. After dissecting the styloid process of the right side using an extraoral approach, the pain ceased and the patient could be discharged without any recurrence of the pain up to this point. Eagle's syndrome, with its similar symptoms, is rather difficult to differentiate from temporomandibular joint disorders (TMD), but can be easily excluded from possible differential diagnoses of TMD using panoramic radiographs and ultrasound. Making use of low cost and easily accessible diagnostic workup techniques can reveal this particular cause for chronic pain restricting quality of life. Thereby differentiation from the TMD symptomatic complex is possible. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  9. The value of arteriography in the differential diagnosis of primary and secondary Raynaud's syndrome

    International Nuclear Information System (INIS)

    Wagner, H.H.; Alexander, K.

    1985-01-01

    Arteriograms of the hands were carried out in 348 patients. Functional and organic changes were analysed in an attempt to differentiate primary from secondary Raynaud's syndrome. The value and limitations of this technique are illustrated by a number of examples. (orig.) [de

  10. Differential Diagnosis Tool for Parkinsonian Syndrome Using Multiple Structural Brain Measures

    Directory of Open Access Journals (Sweden)

    Miho Ota

    2013-01-01

    Full Text Available Clinical differentiation of parkinsonian syndromes such as the Parkinson variant of multiple system atrophy (MSA-P and cerebellar subtype (MSA-C from Parkinson's disease is difficult in the early stage of the disease. To identify the correlative pattern of brain changes for differentiating parkinsonian syndromes, we applied discriminant analysis techniques by magnetic resonance imaging (MRI. T1-weighted volume data and diffusion tensor images were obtained by MRI in eighteen patients with MSA-C, 12 patients with MSA-P, 21 patients with Parkinson’s disease, and 21 healthy controls. They were evaluated using voxel-based morphometry and tract-based spatial statistics, respectively. Discriminant functions derived by step wise methods resulted in correct classification rates of 0.89. When differentiating these diseases with the use of three independent variables together, the correct classification rate was the same as that obtained with step wise methods. These findings support the view that each parkinsonian syndrome has structural deviations in multiple brain areas and that a combination of structural brain measures can help to distinguish parkinsonian syndromes.

  11. Review article: the pathophysiology, differential diagnosis and management of rumination syndrome.

    Science.gov (United States)

    Tack, J; Blondeau, K; Boecxstaens, V; Rommel, N

    2011-04-01

    Rumination syndrome, characterised by the effortless, often repetitive, regurgitation of recently ingested food into the mouth, was originally described in children and in the developmentally disabled. It is now well-recognised that rumination syndrome occurs in patients of all ages and cognitive abilities. To review a scholarly review on our current understanding of the rumination syndrome. The review was conducted on the basis of a medline search to identify relevant publications pertaining to the pathophysiology, clinical diagnosis and management of rumination syndrome. The Rome III consensus established diagnostic criteria for rumination syndrome in adults, children and infants. A typical history can be highly suggestive but oesophageal (high resolution) manometry/impedance with ingestion of a meal may help to distinguish rumination syndrome from other belching/regurgitation disorders. The pathophysiology is incompletely understood, but involves a rise in intra-gastric pressure, generated by a voluntary, but often unintentional, contraction of the abdominal wall musculature, at a time of low pressure in the lower oesophageal sphincter, causing retrograde movement of gastric contents into the oesophagus. To date, controlled trials in the treatment rumination syndrome are lacking. The mainstay of treatment for rumination syndrome is explanation and behavioural treatment which consists of habit reversal techniques that compete with the urge to regurgitate. Chewing gum, prokinetics, baclofen and even antireflux surgery have been proposed as adjunctive therapies, but high quality studies are generally lacking. Rumination is an under-recognised condition with incompletely understood pathophysiology. Behavioural therapy seems effective, but controlled treatment trials are lacking. © 2011 Blackwell Publishing Ltd.

  12. [Tubulointerstitial nephritis with uveitis (TINU) syndrome. A relatively rare rheumatological differential diagnosis with unexplained uveitis].

    Science.gov (United States)

    Häusler, U; Guminski, B; Helmchen, U; Kisters, K; Heinz, C; Braun, J

    2013-05-01

    The tubulo-interstitial nephritis and uveitis (TINU) syndrome, first described in 1975, is a rare disease most probably of autoimmune origin that is characterized by unilateral or bilateral uveitis and tubulointerstitial nephritis. Most patients are adolescents and it is sometimes associated with other autoimmune diseases, such as spondyloarthritis, rheumatoid arthritis and hyperthyroidosis. This article reports the case of a 43-year-old female patient who presented with refractory recurrent bilateral uveitis despite therapy with high doses of corticosteroids in combination with cyclosporin. When the patient was referred to this hospital for rheumatological examination after almost 1 year of therapy, mild renal insufficiency and proteinuria were found. The kidney biopsy revealed interstitial nephritis, partly crescent-shaped and partly chronic. A diagnosis of TINU syndrome was made and treatment with adalimumab in combination with methotrexate was started. The favorable clinical outcome indicated that tumor necrosis factor (TNF) alpha may play an important role in the pathogenesis of TINU syndrome.

  13. HNPCC (Lynch Syndrome: Differential Diagnosis, Molecular Genetics and Management - a Review

    Directory of Open Access Journals (Sweden)

    Lynch Henry T

    2003-12-01

    Full Text Available Abstract HNPCC (Lynch syndrome is the most common form of hereditary colorectal cancer (CRC, wherein it accounts for between 2-7 percent of the total CRC burden. When considering the large number of extracolonic cancers integral to the syndrome, namely carcinoma of the endometrium, ovary, stomach, hepatobiliary system, pancreas, small bowel, brain tumors, and upper uroepithelial tract, these estimates of its frequency are likely to be conservative. The diagnosis is based upon its natural history in concert with a comprehensive cancer family history inclusive of all anatomic sites. In order for surveillance and management to be effective and, indeed, lifesaving, among these high-risk patients, the linchpin to cancer control would be the physician, who must be knowledgeable about hereditary cancer syndromes, their molecular and medical genetics, genetic counseling, and, most importantly, the natural history of the disorders, so that the entirety of this knowledge can be melded to highly-targeted management.

  14. HNPCC (Lynch Syndrome): Differential Diagnosis, Molecular Genetics and Management - a Review

    Science.gov (United States)

    2003-01-01

    HNPCC (Lynch syndrome) is the most common form of hereditary colorectal cancer (CRC), wherein it accounts for between 2-7 percent of the total CRC burden. When considering the large number of extracolonic cancers integral to the syndrome, namely carcinoma of the endometrium, ovary, stomach, hepatobiliary system, pancreas, small bowel, brain tumors, and upper uroepithelial tract, these estimates of its frequency are likely to be conservative. The diagnosis is based upon its natural history in concert with a comprehensive cancer family history inclusive of all anatomic sites. In order for surveillance and management to be effective and, indeed, lifesaving, among these high-risk patients, the linchpin to cancer control would be the physician, who must be knowledgeable about hereditary cancer syndromes, their molecular and medical genetics, genetic counseling, and, most importantly, the natural history of the disorders, so that the entirety of this knowledge can be melded to highly-targeted management.

  15. Diagnostic Accuracy of Copeptin in the Differential Diagnosis of the Polyuria-polydipsia Syndrome: A Prospective Multicenter Study.

    Science.gov (United States)

    Timper, Katharina; Fenske, Wiebke; Kühn, Felix; Frech, Nica; Arici, Birsen; Rutishauser, Jonas; Kopp, Peter; Allolio, Bruno; Stettler, Christoph; Müller, Beat; Katan, Mira; Christ-Crain, Mirjam

    2015-06-01

    The polyuria-polydipsia syndrome comprises primary polydipsia (PP) and central and nephrogenic diabetes insipidus (DI). Correctly discriminating these entities is mandatory, given that inadequate treatment causes serious complications. The diagnostic "gold standard" is the water deprivation test with assessment of arginine vasopressin (AVP) activity. However, test interpretation and AVP measurement are challenging. The objective was to evaluate the accuracy of copeptin, a stable peptide stoichiometrically cosecreted with AVP, in the differential diagnosis of polyuria-polydipsia syndrome. This was a prospective multicenter observational cohort study from four Swiss or German tertiary referral centers of adults >18 years old with the history of polyuria and polydipsia. A standardized combined water deprivation/3% saline infusion test was performed and terminated when serum sodium exceeded 147 mmol/L. Circulating copeptin and AVP levels were measured regularly throughout the test. Final diagnosis was based on the water deprivation/saline infusion test results, clinical information, and the treatment response. Fifty-five patients were enrolled (11 with complete central DI, 16 with partial central DI, 18 with PP, and 10 with nephrogenic DI). Without prior thirsting, a single baseline copeptin level >21.4 pmol/L differentiated nephrogenic DI from other etiologies with a 100% sensitivity and specificity, rendering a water deprivation testing unnecessary in such cases. A stimulated copeptin >4.9 pmol/L (at sodium levels >147 mmol/L) differentiated between patients with PP and patients with partial central DI with a 94.0% specificity and a 94.4% sensitivity. A stimulated AVP >1.8 pg/mL differentiated between the same categories with a 93.0% specificity and a 83.0% sensitivity. This study was limited by incorporation bias from including AVP levels as a diagnostic criterion. Copeptin is a promising new tool in the differential diagnosis of the polyuria-polydipsia syndrome

  16. [Pain syndromes in tick-borne neuroborreliosis. Clinical aspects and differential diagnosis.].

    Science.gov (United States)

    Kohler, J; Thoden, U

    1987-09-01

    pain becomes more radicular in character, without being limited to defined dermatomic areas or peripheral nerves. The intense, burning pain is characterized by exacerbation during the night. Peripherally and centrally acting analgesics have only minor effects. Often neurological deficits are still absent at this time. Erythema migrans with radicular pain in the region of the dermatological lesion was observed in 2 patients. This is an early manifestation of MPN. After MPN and/or Lyme arthritis a sympathetic reflex dystrophy (SRD) developed in 2 patients. In a further patient SRD was observed right at the beginning of the illness, immediately before MPN. There is a close clinical similarity between SRD and the acute stage of ACA. Therefore, borreliosis can be assumed to produce a painful skin dystrophy like SRD or ACA by direct injury to the sympathetic nerves even in the early clinical stage of the infection. The main conditions to be considered in the differential diagnosis are polymyalgia rheumatica; lumbar disk herniation; inflammatory radiculopathies of other origin (e.g. herpes zoster); painful neuropathies, including the diabetic thoraco-abdominal form; internal disorders of chest and abdomen with referred pain; lymphocytic meningitis of other origin, encephalomyelitis; and sympathetic reflex dystrophy. High-dose penicillin G i.v. is a potent analgesic in all patients with tick-borne neuroborreliosis.

  17. Copeptin in the differential diagnosis of the polydipsia-polyuria syndrome--revisiting the direct and indirect water deprivation tests.

    Science.gov (United States)

    Fenske, Wiebke; Quinkler, Marcus; Lorenz, Daniela; Zopf, Kathrin; Haagen, Ulrike; Papassotiriou, Jana; Pfeiffer, Andreas F H; Fassnacht, Martin; Störk, Stefan; Allolio, Bruno

    2011-05-01

    The water deprivation test (WDT) with direct or indirect measurement of plasma arginine vasopressin (AVP) is the method of choice for the differential diagnosis of the polydipsia-polyuria syndrome. In theory, direct measurement of AVP is highly attractive but is hampered by technical difficulties. The aim of the study was to evaluate the utility of copeptin, a surrogate of AVP secretion, in the diagnostic work-up of the polyuria-polydipsia syndrome and to compare its performance with the current diagnostic standard. In two tertiary referral centers, 20 healthy subjects and 50 patients with polydipsia-polyuria syndrome underwent WDT with measurements of both plasma AVP and copeptin levels. The reference diagnosis was based on clinical information and treatment response. Twenty-two patients (44%) were diagnosed with primary polydipsia, 17 (34%) with partial central diabetes insipidus (DI), nine (18%) with complete central DI, and two (4%) with nephrogenic DI. The indirect WDT led to a correct diagnosis in 35 of 50 patients (70%). The direct WDT with AVP or copeptin measurement correctly diagnosed 23 patients (46%) or 36 patients (72%), respectively. Baseline copeptin values greater than 20 pmol/liter identified patients with nephrogenic DI, and concentrations below 2.6 pmol/liter indicated complete central DI. The ratio between Δ copeptin (0800 to 1600 h) and serum sodium concentration at 1600 h yielded optimal diagnostic accuracy, allowing us to also discern partial central DI from primary polydipsia (sensitivity 86%, and specificity 100%). Copeptin holds promise as a diagnostic tool in the polyuria-polydipsia syndrome, improving significantly the diagnostic accuracy of the direct WDT.

  18. Churg-Strauss vasculitis and idiopathic hypereosinophyl syndrome: role of molecular biology in the differential diagnosis of hypereosinophyl syndrome

    Directory of Open Access Journals (Sweden)

    A. d'Ascanio

    2011-09-01

    Full Text Available Objective: Hypereosinophilic syndromes are a heterogeneous group of uncommon disorders characterized by the presence of marked peripheral blood eosinophilia, tissue eosinophilia, or both, resulting in a wide variety of clinical manifestations, often without an identifiable cause. Churg-Strauss syndrome is a systemic vasculitis characterized by prominent peripheral eosinophilia, asthma and systemic involvement. The presence of mild to severe eosinophilia and systemic involvement raise the search of many trigger factor that need to be ruled out. Distinguishing CSS from idiopathic hypereosinophilic syndrome may be particularly challenging, especially in ANCA negative patients. Methods: The aim of the present study was to present a small case series of patients referred to a Rheumatology Unit for mild to severe eosinophilia and signs and symptoms of systemic involvement and to outline the clinical significance of molecular biology in the work-up of hypereosinophilia. Results: Eleven patients with moderate to severe peripheral eosinophylia, were referred to our Unit from 1996 to 2007. Female to male ratio was 7/4, mean age 40.54 (range 22-75. Three out of eleven patients resulted positive for molecular biology. The diagnosis of idiopathic hypereosinophylia was confirmed in one out of three on the basis of the clinical picture and bone marrow biopsy. Conclusions: Molecular biology may be useful in the screening and in the follow-up of a new hypereosinophylic patient.

  19. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

    Science.gov (United States)

    Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco

    2015-03-01

    Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes. © 2015 Wiley Periodicals, Inc.

  20. Utility of myeloperoxidase in the differential diagnosis of acute coronary syndrome.

    Science.gov (United States)

    Calmarza, Pilar; Lapresta, Carlos; Martínez, María; Lahoz, Raquel; Povar, Javier

    2017-12-07

    To determine the usefulness of myeloperoxidase in discriminating between patients with acute coronary syndrome and patients with chest pain by other causes. The study included all patients over 18 years of age who come consecutively to the emergency department from September 2015 to December 2015 with chest pain of non-traumatic origin. The initial patient evaluation was performed according to the study protocol for patients with suspected acute coronary syndrome (ACS) in our Emergency Department. This included the serial measurement of troponin, and in this case myeloperoxidase, with serialization on admission and at 6h. For the determination of myeloperoxidase (MPO), a single step sandwich enzyme immunoassay by Siemens, automated on a Dimension analyser, was used. Statistically significant differences were observed in the concentration of myeloperoxidase at time 0 among patients diagnosed with ACS: 505 (413)pmol/L, and non-ACS patients: 388 (195)pmol/L (p<.001), as well as at 6h (p<.001). An area under the curve ROC of 0.824 was obtained at 6h for ACS patients, with a confidence interval of 95% from 0.715 to 0.933 and a level of significance of p<.001. Statistically significant differences were also found in the concentration of myeloperoxidase at time 0 and at 6h among patients with ACS and patients with heart disease other than coronary artery disease. The concentration of MPO helps to differentiate between ACS and non-ACS patients, as well as between ACS patients and patients with heart diseases other than coronary artery disease. Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

  1. Radiological diagnosis and differential diagnosis of headache

    International Nuclear Information System (INIS)

    Langner, S.; Kirsch, M.

    2015-01-01

    Headache is very common and affects almost everyone at some point. It is one of the most common disorders that leads patients to see their physician. All different forms have the nociception via trigeminal nerve fibers in common. Beside the clinical course headaches are classified as either primary or secondary, with the latter having an identifiable structural or biochemical cause. Imaging has a low diagnostic yield in primary headache but play an important role in the differential diagnosis of secondary forms. An overview of different forms of secondary headache is given, outlining diagnostic procedures and the morphologic imaging features of each syndrome.

  2. Charles Bonnet syndrome: characteristics of its visual hallucinations and differential diagnosis

    Directory of Open Access Journals (Sweden)

    Thiago Cardoso Vale

    2014-05-01

    Full Text Available Objective: To present an eight-case serie of patients with Charles Bonnet syndrome (CBS. Method: All patients were initially evaluated by an ophthalmologist and then submitted to a neurologic evaluation with exclusion of alternative psychiatric and neurologic diagnoses. Results: Five patients were male (62.5% and the mean age was 52.3+16.0 years. Two patients suffered from severe myopia and glaucoma, three had retinitis pigmentosa, one had anterior ischemic optic neuropathy, one had age-related macular degeneration and one had toxoplasmic retinochoroiditis. Mean visual acuity in the right eye was 1,12 logMAR and in the left eye 0.57 logMAR. A mean delay of 41.7 months occurred until diagnosis. All hallucinations were complexes and mostly ocurred on a weekly-basis (62.5% and lasted for seconds (87.5%. Conclusions: Physicians who care for low vision patients should be aware of CBS and appropriately diagnose its hallucinations after exclusion of psychiatric and neurologic diseases.

  3. The use of whole saliva in the differential diagnosis of Sjögren's syndrome.

    Science.gov (United States)

    Sreebny, L M; Zhu, W X

    1996-04-01

    Sjögren's Syndrome (SS) is a chronic, multisystem, autoimmune disorder. It is characterized by (1) generalized exocrine gland dysfunction, (2) serologic abnormalities, and (3) organ-system changes. Oral changes are a prominent feature of this disease. Among these are xerostomia and hypofunction of the salivary glands. Given the intimate relationship between SS and the salivary glands, it is reasonable to postulate that whole saliva (WS) contains the stigmata associated with the presence of this disease. But few studies have been conducted on this secretion. Indeed, WS has largely been neglected and ignored by physicians, dentists, and scientists. Objections to its use have included the fact that it is "impure", that it does not adequately represent what is present in the salivary glands, that no standards have been established for its rate of flow, and that findings based on it lack specificity. Yet, it is this secretion which coats and protects the hard and soft oral tissues, enables us to prepare our food for digestion, and assists our speech. This review will demonstrate that there is a uniqueness and constancy to whole saliva and that it may be used to diagnose the presence of SS. "Screening tests", which include several simple-to-perform sialometric, chemical, and microbiologic procedures, may be conducted in doctors' offices to establish the "profile" of an SS patient. Electrophoretic studies may be used to study the nature of the salivary proteins, and an immunologic test, which is performed on WS and utilizes Western Blot Autoantibody Strips (ImmunoVision, Springdale, AR), may be used to establish the definitive diagnosis of SS.

  4. Morquio syndrome: A radiological diagnosis

    Directory of Open Access Journals (Sweden)

    Sadhanandham Shrinuvasan

    2015-01-01

    Full Text Available Mucopolysaccharidoses (MPS are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (MPS. We report here a 7-year-old female child who presented with complaints of short stature, skeletal deformities, and difficulty in walking with normal intelligence. A clinical diagnosis with differential diagnosis of achondroplasia/rickets was considered. Skeletal survey showed radiological features characteristic of Morquio syndrome (MPS IV which lead to diagnosis in this case.

  5. TETANIC CRISIS IN EMERGENCY CARDIOLOGY — DIFFICULTIES DIFFERENTIAL DIAGNOSIS OF ACUTE CORONARY SYNDROME

    Directory of Open Access Journals (Sweden)

    V. V. Rezvan

    2016-01-01

    Full Text Available The report presents a case of tetanic crisis in a patient with postoperative parathyroid insufficiency after strumectomy that emergency doctors were interpreted as an acute coronary syndrome with collapse.

  6. [The significance of a 4,183 Da peptide of dermcidin protein in the early diagnosis and differential diagnosis of acute coronary syndrome].

    Science.gov (United States)

    Kai, Feng; Lifeng, Liu; Haijing, Song; Xianhua, Liu; Hu, Xia

    2015-12-01

    To investigate the predictive value of 4,183 Da peptide of dermcidin protein in the early diagnosis and differential diagnosis of ischemic heart disease. A prospective controlled study was conducted. Serum samples were drawn from 161 patients with acute coronary'syndrome [ACS, including 46 patients with unstable angina (UA), 23 with acute non-ST elevation myocardial infarction, and 92 with acute ST segment elevation myocardial infarction], 111 subjects for routine physical examination, including 45 patients with hypertension history, 42 with coronary heart disease, 22 with diabetes, and 54 patients with non-ACS (including pulmonary embolism, aortic dissection, aneurysm, arrhythmia, myocarditis, coronary myocardial bridge, pleurisy, pneumothorax pneumomediastinum, rib fracture, reflux esophagitis, peptic ulcer, and pancreatitis) to serve as controls. 4 183 Da peptide of dermcidin protein was assessed with matrix assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS) technology, and myeloperoxidase [MPO, determined by point-of-care testing (POCT) and enzyme linked immunosorbent assay (ELISA), respectively], high sensitive C-reactive protein (hs-CRP), heart type fatty acid binding protein (H-FABP), myoglobin (MYO), cardiac troponin I (cTnI), and MB isoenzyme of creatine kinase (CK-MB) were quantitated with biochemical analysis. The power of the biomarkers above for early diagnosis and differential diagnosis for ischemic heart disease were judged by comparison of their sensitivity and specificity. (1) It was showed by one-way ANOVA that 4,183 Da peptide was higher in ACS group than that in control group (relative abundance: 22.05 ± 16.97 vs. 15.52 ± 14.09, P = 0.001), but no difference was found between ACS group and non-ACS group (relative abundance: 22.05 ± 16.97 vs. 19.99 ± 17.63, P = 0.416). (2) The specificity and sensitivity of the 4 183 Da polypeptide and MPO for predicting ACS and UA were compared with the receiver operating

  7. The neuromuscular differential diagnosis of joint hypermobility

    NARCIS (Netherlands)

    Donkervoort, S.; Bonnemann, C.G.; Loeys, B.L.; Jungbluth, H.; Voermans, N.C.

    2015-01-01

    Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a

  8. Epithelioid angiomatosis in the acquired immunodeficiency syndrome: morphology and differential diagnosis

    NARCIS (Netherlands)

    Walford, N.; van der Wouw, P. A.; Das, P. K.; ten Velden, J. J.; Hulsebosch, H. J.

    1990-01-01

    A rare vascular proliferation found as a skin lesion in patients suffering from the acquired immunodeficiency syndrome and sometimes referred to as epithelioid angiomatosis is believed to be a manifestation of infection by the cat scratch bacillus or a related organism. We describe the histological

  9. Differential diagnosis diphtheria adults

    Directory of Open Access Journals (Sweden)

    Yu. I. Liashenko

    2010-01-01

    Full Text Available A total of 1,824 human cases of diphtheria, treated at the Clinical Infectious Diseases Hospital SP Botkin (St. Petersburg during 1993, as well as 19 deaths in 1994. It is known that early diagnosis of infectious diseases, especially diphtheria, contributes to the favorable outcome of the disease. The diagnosis of diphtheria at the prehospital stage is always difficult. Presented in detail the differential diagnosis of the disease, clinically similar to diphtheria: Lacunal angina, angina Simanovsky, infectious mononucleosis, angina Ludwig’s angina Dugue, syphilis, non-infectious with clinical «masks» of diphtheria and other. Diphtheria epidemic of 1993–1994 in Russia and, in particular, in St. Petersburg, showed that the late admission of patients with diphtheria infection in hospitals, usually associated with irregular differential diagnosis of this dangerous disease.

  10. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

    Science.gov (United States)

    Lynch, HT; Lynch, PM; Lanspa, SJ; Snyder, CL; Lynch, JF; Boland, CR

    2010-01-01

    More than one million patients will manifest colorectal cancer (CRC) this year of which, conservatively, approximately 3% (~30,700 cases) will have Lynch syndrome (LS), the most common hereditary CRC predisposing syndrome. Each case belongs to a family with clinical needs that require genetic counseling, DNA testing for mismatch repair genes (most frequently MLH1 or MSH2) and screening for CRC. Colonoscopy is mandated, given CRC’s proximal occurrence (70–80% proximal to the splenic flexure). Due to its early age of onset (average 45 years of age), colonoscopy needs to start by age 25, and because of its accelerated carcinogenesis, it should be repeated every 1 to 2 years through age 40 and then annually thereafter. Should CRC occur, subtotal colectomy may be necessary, given the marked frequency of synchronous and metachronous CRC. Because 40–60% of female patients will manifest endometrial cancer, tailored management is essential. Additional extracolonic cancers include ovary, stomach, small bowel, pancreas, hepatobiliary tract, upper uroepithelial tract, brain (Turcot variant) and sebaceous adenomas/carcinomas (Muir-Torre variant). LS explains only 10–25% of familial CRC. PMID:19659756

  11. Novel enzyme immunoassay system for simultaneous detection of six subclasses of antiphospholipid antibodies for differential diagnosis of antiphospholipid syndrome.

    Science.gov (United States)

    Nojima, Junzo; Motoki, Yukari; Hara, Kazusa; Sakata, Toshiyuki; Ichihara, Kiyoshi

    2017-06-01

    : Antiphospholipid syndrome, which often complicates systemic lupus erythematosus (SLE), features high occurrence of arterial and/or venous thrombosis and recurrent fetal loss. However, which antibody subclass contributes to which clinical event remains uncertain. We newly developed an up-to-date enzyme immunoassay system using the AcuStar automated analyzer (Instrumentation Laboratory, Bedford, Massachusetts, USA) for parallel detection of six subclasses of antiphospholipid antibodies (aPLs): anticardiolipin antibodies (aCL) of IgG, IgM, and IgA and anti-β2-glycoprotein I antibodies (aβ2GPI) of IgG, IgM, and IgA. They were measured in 276 healthy volunteers and 138 patients with SLE: 45 with thromboembolic complications (29 arterial; 16 venous) and 93 without. Lupus anticoagulant activity in their plasma was measured according to the guidelines recommended by the Subcommittee on Lupus Anticoagulant/Phospholipid-Dependent Antibodies. aCL/β2GPI was measured with a standard ELISA kit commonly used in Japan. The positive results of IgG aCL, IgA aCL, and IgG aβ2GPI were closely associated with thromboembolic complications, whereas IgM aCL and IgM aβ2GPI were not. receiver operating characteristic analysis revealed that the accuracy of predicting thromboembolic complications based on the composite test results of the former three antibodies were obviously higher than by each alone. Regarding agreement with the test results of lupus anticoagulant activity, IgG aβ2GPI showed the closest match. Patients with SLE frequently possess various combinations of the six aPL subclasses, and this antibody spectrum is closely associated with thromboembolic events in these patients. This new automated enzyme immunoassay system allows simultaneous analysis of the profile of aPL subclasses for the differential diagnosis of antiphospholipid antibody syndrome in its early stage.

  12. Prenatal diagnosis by isoenzymic differentiation of Treacher Collins' syndrome induced by retinoids in rats

    DEFF Research Database (Denmark)

    Granström, G; Kirkeby, S

    1990-01-01

    A series of branchial arch malformations was induced in 618 embryos from 72 pregnant rats by a single intraperitoneal injection of 10 mg/kg etretinate at 8.5 days of gestation. The litters developed several malformations, including microtia, low set and dorsally placed outer ears, defective middle...... branchial arches is accompanied by a pathological differentiation pattern that can be traced by determinations of isoenzymes in the branchial arches as well as in amniotic fluid....

  13. Flow cytometry in the diagnosis of myelodysplastic syndromes (MDS) and the value of myeloid nuclear differentiation antigen (MNDA).

    Science.gov (United States)

    Bellos, Frauke; Kern, Wolfgang

    2014-09-25

    Background: Confirming diagnosis of myelodysplastic syndromes (MDS) is often challenging. Standard diagnostic methods are cytomorphology (CM) and cytogenetics (CG). Multiparameter flow cytometry (MFC) is upcoming in MDS diagnostic work up, comparability and investigator experience are critical. Myeloid nuclear differentiation antigen (MNDA) in myelomonocytic cells might be expressed more weakly in patients with MDS. The analysis of MNDA may thus improve diagnostic capabilities of MFC in MDS. Methods: Staining methods and antibody combinations for MFC in MDS are outlined, giving details for interpretation of results in regard to dyspoiesis. MFC results are correlated with CM and CG and with survival data. Use of myeloid nuclear differentiation antigen (MNDA) in MDS diagnostics was evaluated in 239 patients with MDS, AML, other cytopenic conditions and in 30 negative controls. Results: Strong correlation between findings in CM and MFC was found; MFC results correlated well with those of CG. Patients with higher grades of dysplasia in MFC had shorter overall survival. Percentages of granulocytes and monocytes with diminished MNDA expression (%dimG, %dimM) were higher in patients with MDS and AML. Mean fluorescence intensity (MFI) of MNDA in monocytes was lower in MDS and AML. Cut-off values for %dimG (12%) and %dimM (22%) as well as for MFI in monocytes (72) were defined discriminating between MDS and non-MDS. Conclusion: MFC adds significant information on dyspoiesis in the diagnostic work up for MDS and provides prognostic information. MNDA expression can be assessed by MFC and may facilitate evaluation of dyspoiesis when added to MDS MFC panels. © 2014 Clinical Cytometry Society. Copyright © 2014 Clinical Cytometry Society.

  14. Diagnosis of shoulder impingement syndrome

    International Nuclear Information System (INIS)

    Hodler, J.

    1996-01-01

    This article reviews the pathogenesis and clinical and imaging findings in shoulder impingement syndrome. Different stages of impingement syndrome are described. Stage I relates to edema and hemorrhage of the supraspinatus tendon. Stage II is characterized by bursal inflammation and fibrosis, as well as tendinopathy. In stage III there is a tear of the rotator cuff. Clinical signs many overlap. Moreover, calcifying tendinitis, fractures and pain originating from the cervical spine may mimic shoulder impingement syndrome. Imaging is important for the exact diagnosis. Standard radiographs are the basis of imaging in shoulder impingement syndrome. They may demonstrate subchondral sclerosis of the major tuberosity, subacromial spurs, and form anomalies of the acromion. They are also important in the differential diagnosis of shoulder impingement syndrome and demonstrate calcifying tendinitis, fractures and neoplasm. Ultrasonography has found acceptance as a screening tool and even as a final diagnostic method by many authors. However, there is a high interobserver variability in the demonstration of rotator cuff tears. Its usefulness has therefore been questioned. MR imaging is probably the method of choice in the evaluation of the rotator cuff and surrounding structures. Several investigations have demonstrated that differentiation of early findings, such as tendinopathy versus partial tears, may be difficult with MR imaging. However, reproducibility for fullthickness tears appears to be higher than for sonography. Moreover, specificity appears to be superior to sonography. MR arthrography is not universally accepted. However, it allows for more exact differentiation of discrete findings and may be indicated in preoperative planning. Standard arthrography and CT have a limited role in the current assessment of the rotator cuff. (orig.) [de

  15. IBZM SPECT and FDG PET in the differential diagnosis of Parkinsonian syndromes. Comparison with respect to inter-rater agreement

    DEFF Research Database (Denmark)

    Derlin, T; Afzal, W; Wilke, F

    2010-01-01

    Aim: Both IBZM SPECT and FDG PET may be used for differentiation between Parkinson's disease (PD) and atypical neurodegenerative parkinsonian syndromes (APS). However, there are only very limited data of both modalities in the same subjects. The present study compared both modalities with respect...

  16. [Visual diagnosis: Waardenburg syndrome].

    Science.gov (United States)

    Hager, T; Walter, H-S; Seitz, B; Käsmann-Kellner, B

    2010-07-01

    Waardenburg syndrome (WS) is a rare disease characterized by a sensorineural hearing loss and pigment anomalies of the iris, skin and hair due to mutations in PAX3. WS can be subdivided into four groups according to major and minor clinical signs. We report the case of a 2 1/2-year-old coloured patient who presented in our department of paediatric ophthalmology for a syndrome search. The patient presented with hearing loss, brilliant blue iris colour and dystopia canthorum. The patient was slightly hypermetropic. Visual acuity was within normal limits according to the Cardiff acuity test. The ocular fundus examination revealed no abnormalities. According to the major and minor criteria defined by the Waardenburg consortium our patient showed the major criteria of WS1, i.e. hearing loss, hypopigmentation of the pigment epithelium of the iris and dystopic canthi. Diagnosis of WS is usually based on the clinical presentation. An additional molecular genetic analysis is possible.

  17. 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.

  18. Tarsaltunnel syndrome - MRI diagnosis

    International Nuclear Information System (INIS)

    Trattnig, S.; Helbich, T.; Imhof, H.

    1995-01-01

    Clinical findings and symptoms of tarsal tunnel are commonly vague and diffuse and electrodiagnostic studies do not provide definitive diagnosis. MR imaging with its excellent soft tissue contrast can demonstrate clearly the anatomy of the tarsal tunnel and its contents. MRI is able to demonstrate a space-occypyinglesion and its relationship to the posterior tibial nerve and its branches. This information aids in surgical planning by determining the extent of the decompression required. MR imaging may also be used to follow up non-surgical causes of tarsal tunnel syndrome such as tenosynovitis. (orig.) [de

  19. The combination of disease and Zheng (syndrome on the basic of differentiation of six channels: a new pattern of disease diagnosis and treatment of traditional Chinese medicine

    Directory of Open Access Journals (Sweden)

    Xue Yang

    2017-04-01

    Full Text Available Traditional Chinese medicine (TCM was formed two thousand years ago, and developed in the following centuries. TCM has a unique way of looking at health and illness. Zheng (syndrome is the basic unit and key term in TCM theory. Zheng is the pathological generalization of a certain stage in the development of disease. Treatment based on syndrome differentiation and disease differentiation of TCM is the basic principle to know and treat diseases,and a kind of special method to study diseases in TCM. In Han Dynasty (200 AD, doctor Zhang Zhongjing proposed Liujing Bianzheng (the differential diagnosis in accordance with the theory of six channels to diagnose and treat diseases in Treatise on Febrile and Miscellaneous Diseases. In other words, he divided diseases into six channels diseases based on patient’s Zhengs. Six channels diseases almost include all of the disease according to his classification standards. In addition, there are development rules in the progress of six channels diseases.Therefore, we hypothesized that combination of six channels disease and Zheng on the basic of differentiation of six channels is a new pattern of diagnosis and treatment diseases in TCM, which is beneficial to the understanding of a certain disease and makes disease treatment more convenient, fast and effective.

  20. Pseudo-differentiation syndrome

    Directory of Open Access Journals (Sweden)

    Dina Khalaf

    2011-12-01

    Full Text Available A patient with relapsed acute myeloid leukemia (AML (M2 FAB classification developed a differentiating syndrome upon receiving Decitabine therapy given with palliative intent. The patient presented with high grade fever, constitutional symptoms and severe chest symptoms with no underlying lung condition. Chest x-ray (CXR showed diffuse pulmonary infiltrates. Septic work up followed by intravenous broad spectrum antimicrobials did not improve his condition. Pan cultures’ results were repeatedly negative. Treatment with high dose Dexamethasone (DXM resulted in marked clinical and radiological improvement. Our patient initially presented with relapsed AML (M2 Fab classification with t (8; 21; negative FMS-like tyrosine kinase -internal tandem duplication (FLT3-ITD which are all good prognostic factors, yet the patient had an atypical clinical course with early frequent relapses, differentiation syndrome associated with Decitabine therapy and late in his disease, he developed a granulocytic sarcoma.

  1. The neuromuscular differential diagnosis of joint hypermobility.

    Science.gov (United States)

    Donkervoort, S; Bonnemann, C G; Loeys, B; Jungbluth, H; Voermans, N C

    2015-03-01

    Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a patient presenting with such findings. However, several congenital and adult-onset inherited myopathies also present with joint hypermobility in the context of often only mild-to-moderate muscle weakness and should, therefore, be included in the differential diagnosis of joint hypermobility. In fact, on the molecular level disorders within both groups represent different ends of the same spectrum of inherited extracellular matrix (ECM) disorders. In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy. The aim of this review is to assist clinical geneticists and other clinicians with recognition of these disorders. © 2015 Wiley Periodicals, Inc.

  2. Controversies in the differential diagnosis of Brown-Sequard syndrome due to cervical spinal disease from stroke: A case series

    Directory of Open Access Journals (Sweden)

    Vaner Koksal, M.D.

    2017-09-01

    Full Text Available Stroke is generally considered to be the first preliminary diagnosis in patients presenting with acute hemiparesia in the emergency department. But rarely in unexpected spontaneous neurological pathologies that may lead to hemiparesis. The data from 8 non-traumatic patients who underwent surgical treatment for brown-sequard syndrome (BSS were reviewed retrospectively. All patients were initially misdiagnosed with strokes. Two of the patients had spinal canal stenosis, two had spinal epidural hematomas, one had an ossified herniated disc and three had soft herniated discs. None of the patients complained of significant pain at the initial presentation. All of the patients had a mild sensory deficit that was initially unrecognized. The pain of the patients began to become evident after hospitalization and, patients transferred to neurosurgery department. Cervical spinal pathologies compressing the corticospinal tract in one-half of the cervical spinal canal may present with only hemiparesis, without neck and radicular pain. If it's too late, permanent neurological damage may become inevitable while it is a correctable pathology. Keywords: Brown-Sequard syndrome, Cervical cord, Herniated disc, Spinal epidural hematoma, Stroke

  3. Diagnosis of antenatal Bartter syndrome.

    Science.gov (United States)

    Narayan, R; Peres, M; Kesby, G

    2016-01-01

    Bartter syndrome is a rare heterogeneous group of autosomal-recessive salt-losing renal tubular disorders that can present in fetal life (antenatal Bartter syndrome; ABS) as "unexplained" early-onset polyhydramnios, often associated with growth restriction. Prenatal diagnosis of the condition involves assessment of amniotic fluid biochemistry in a setting of polyuric polyhydramnios; with elevated chloride levels considered a consistent and diagnostic finding. Other amniotic fluid biochemical markers have been described, notably increased aldosterone levels, and low total protein levels. NOVEL INSIGHT: Antenatal Bartter syndrome is a heterogeneous group of renal disorders. While certain biochemical features in amniotic fluid might heighten suspicion, final diagnosis can only be made in the postnatal setting. In the setting of unexplained severe polyhydramnios, clinicians should continue to entertain the diagnosis of antenatal Bartter Syndrome and maintain neonatal surveillance, even if amniotic fluid markers do not support the diagnosis.

  4. Prenatal diagnosis of fetal syndromes

    International Nuclear Information System (INIS)

    Murthy, BS Rama

    2008-01-01

    A syndrome is a pattern of multiple anomalies arising due to a single known causative factor. Ultrasonography has enabled us to recognize many fetal anomalies and dysmorphic features. Recognition of the anomaly pattern leads to the diagnosis of a particular syndrome. This enables us to counsel prospective parents and aids in management. We present a selection of fetal syndromes in the form of a pictorial essay

  5. Pituitary tuberculoma: A consideration in the differential diagnosis in a patient manifesting with pituitary apoplexy-like syndrome

    Directory of Open Access Journals (Sweden)

    Sasima Srisukh

    2016-01-01

    Full Text Available Pituitary tuberculoma is extremely rare, even in endemic regions of tuberculosis and much less frequently as a presentation of pituitary apoplexy. We describe a 25-year-old female presented with sudden onset of headache and vision loss of left eye which mimicking symptoms of pituitary apoplexy. MRI of the pituitary gland showed a rim-enhancing lesion at the intrasellar region extending into the suprasellar area, but absence of posterior bright spot with enhancement of the pituitary stalk. Pituitary hormonal evaluation revealed panhypopituitarism and diabetes insipidus. An urgent transphenoidal surgery of the pituitary gland was undertaken for which the histopathology showed necrotizing granulomatous inflammation with infarcted adjacent pituitary tissue. Despite negative fungal and AFB staining, pituitary tuberculoma was presumptively diagnosed based on imaging, pathology and the high incidence of tuberculosis in the country. After the course of anti-tuberculosis therapy, the clinical findings were dramatically improved, supporting the diagnosis. Pituitary tuberculoma is extremely rare in particular with an apoplexy-like presentation but should be one of the differential diagnosis list of intrasellar lesions in the patient presenting with sudden onset of headache and visual loss. The presence of diabetes insipidus and thickened with enhancement of pituitary stalk on MRI were very helpful in diagnosing pituitary tuberculosis.

  6. Acute Appendicitis, Somatosensory Disturbances ("Head Zones"), and the Differential Diagnosis of Anterior Cutaneous Nerve Entrapment Syndrome (ACNES).

    Science.gov (United States)

    Roumen, Rudi M H; Vening, Wouter; Wouda, Rosanne; Scheltinga, Marc M

    2017-06-01

    Anterior cutaneous nerve entrapment syndrome (ACNES) is a neuropathic abdominal wall pain syndrome typically characterized by locally altered skin sensations. On the other hand, visceral disease may also be associated with similar painful and altered skin sensations ("Head zones"). Aim of the study was to determine if patients with acute appendicitis demonstrated somatosensory disturbances in the corresponding right lower quadrant Head zone. The presence of somatosensory disturbances such as hyperalgesia, hypoesthesia, altered cool perception, or positive pinch test was determined in 100 patients before and after an appendectomy. Potential associations between altered skin sensations and various items including age, sex, history, body temperature, C-reactive protein (CRP), leukocyte count, and type of appendicopathy (normal, inflamed, necrotic, or perforated) were assessed. A total of 39 patients demonstrated at least one right lower abdominal quadrant skin somatosensory disturbance before the laparoscopic appendectomy. However, locoregional skin sensation normalized in all but 2 patients 2 weeks postoperatively. No differences were found concerning patient characteristics or type of appendicopathy between populations with or without altered lower abdominal skin sensations. A substantial portion of patients with acute appendicitis demonstrate right lower abdominal somatosensory disturbances that are similar as observed in acute ACNES. Both may be different sides of the same coin and are possibly expressions of segmental phenomena as described by Head. McBurney's point, a landmark area of maximum pain in acute appendicitis, is possibly a trigger point within a Head zone. Differentiating acute appendicitis from acute ACNES is extremely difficult, but imaging and observation may aid in the diagnostic process.

  7. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... 4 months later, my father walked me down the aisle. We danced to a Beatles song & then to j… Connect on Instagram Email: info@alportsyndrome.org Phone: (480) 800-3510 Mailing Address: Alport syndrome Foundation P.O. Box 4130 ... 5, 2017 Cecil Alport: Naming the Syndrome November 26, 2016 The Renal Diet: Potassium ...

  8. [Age 89 years, depression, fall with pelvic fracture, severe confusion - serotonin syndrome : Differential diagnosis, importance of CYP450 and economic considerations].

    Science.gov (United States)

    Weinrebe, W; Moutaouakil, A; Risz, K; Martin, M; Jeckelmann, K; Goetz, S

    2017-04-18

    A case study of an 89-year-old patient is reported, who was admitted to hospital because of immobility due to pain. After the cause of the pain could initially be clarified and treated, the further clinical course in this very old woman showed an alarming symptom complex of agitation, confusion and cognitive deterioration, which took on grave forms. The work-up of this case showed a typical constellation of pain and depression in old age; however, the pharmaceutical treatment in this case is not atypical and could lead to a severe serotonin syndrome. The interaction, diagnostics, differential diagnosis, pharmacological, functional, codification and economic aspects of the course of the disease are discussed.

  9. Pseudo-differentiation syndrome

    Directory of Open Access Journals (Sweden)

    Fathi Jehani

    2011-01-01

    Full Text Available

    A patient with relapsed acute myeloid leukemia (AML (M2 FAB classification developed a differentiating syndrome upon receiving Decitabine therapy given with palliative intent. The patient presented with high grade fever, constitutional symptoms and severe chest symptoms with no underlying lung condition. Chest x-ray (CXR showed diffuse pulmonary infiltrates. Septic work up followed by intravenous broad spectrum antimicrobials did not improve his condition. Pan cultures’ results were repeatedly negative. Treatment with high dose Dexamethasone (DXM resulted in marked clinical and radiological improvement.

    Our patient initially presented with relapsed AML (M2 Fab classification with t (8; 21; negative FMS-like tyrosine kinase -internal tandem duplication (FLT3-ITD which are all good prognostic factors, yet the patient had an atypical clinical course with early frequent relapses, differentiation syndrome associated with Decitabine therapy and late in his disease, he developed a granulocytic sarcoma.

  10. [Diagnosis and differential diagnosis of bronchial asthma].

    Science.gov (United States)

    Gillissen, A; Bauer, T; Richter, F; Leonhardt, P

    2001-11-01

    Asthma and COPD (chronic obstructive pulmonary disease) are the most important obstructive pulmonary diseases. Patient's history and physical evaluation give major hints of the underlying disease. Further diagnostic measures comprise lung function analysis including spirometry, plethysmography and--in severe cases--blood gas analysis. Bronchial hyperreactivity may be quantified with an unspecific inhalative provocation test. In many cases allergic diseases are accompanied by asthma. Thus, allergy tests--particularly skin prick tests--have to be carried out. To further define an underlying allergy, in some cases even specific inhalative provocation tests have to be performed. X-ray of the thorax and other imaging techniques, detailed blood analysis, further diagnosis of the upper respiratory tract and the cardiac system may have to be carried out a) to quantify the effects of a severe form of asthma or COPD on other organs, and b) for differential diagnostic examinations.

  11. Sciatic nerve blocks for diagnosis of piriformis syndrome

    International Nuclear Information System (INIS)

    Owashi, Kazuya; Harada, Mikio; Utsumi, Hideaki; Sugawara, Hirobumi; Oyama, Kaori; Takei, Isao

    2010-01-01

    We used sciatic nerve block (SNB) to make the differential diagnosis of piriformis syndrome in 188 consecutive patients with sciatica in whom it was impossible to make the diagnosis based on the lumbar MRI findings. We rated the effectiveness of SNB as excellent (60%), good (25%) and poor (15%). After performing SNBs, lumbar radicular blocks, and surgeries based on the initial diagnosis, the final diagnoses were piriformis syndrome (56%), piriformis syndrome complicated with lumbar degenerative disease (4%), lumbar degenerative disease (23%), others or unknown (16%). The prevalence of piriformis syndrome in the excellent effectiveness group was 81%. SNB was effective in all patients with piriformis syndrome and in 66% of the lumbar degeneration patients. The diagnostic value of SNB is of limited value for differentiating piriformis syndrome from lumbar degenerative disease. (author)

  12. Differential diagnosis of rheumatic diseases

    International Nuclear Information System (INIS)

    Lingg, G.; Schorn, C.

    2006-01-01

    Which imaging modalities are appropriate for the Differential diagnosis of Rheumatic diseases. MRI has far most the highest sensitivity and is unequaled in its brilliant presentation of Anatomy and Pathology. But it is sometimes forgotten, that this is at least in part the result of carefully selected sequences, dedicated to the expected result. In a method totally independent of any result, this should not be the case. In contrary this method should be highly standardised and regardless what will be the findings. This is true for Plain X-ray. It will be shown, that already the outer silhouette of the soft parts with different features of swelling, and differences in density and even more - defects or appositions of the bony silhouette in the majority of cases at least will allow to classify the patient for a group of diseases and in many cases will lead to a definite diagnosis. Differential diagnoses like Rheumatoid Arthritis versus Psoriatic Arthritis or simply but not always simple - inflammatory Arthritis versus degenerative disease - are allowed to be answered definitely, not always so in MRI. The condition of the subchondral bone can give hints, how advanced and how active the disease is at present. Plain X-ray offers high specifity in the differential diagnoses of Rheumatic diseases, it is well standardised and it is a device, to use independent from any suspected findings. So it is the method of choice for questions of differential diagnosis. This is even more true, thinking of the possibility, to investigate all clinically involved regions with not to much extended efforts, whereas MRI and CT are used normally for only one region. (orig.) [de

  13. Mirizzi syndrome: A sonographic diagnosis

    International Nuclear Information System (INIS)

    Tscholakoff, D.; Salomonowitz, E.; Czembirek, H.; Leitner, H.; Haller, J.; Wittich, G.; Vienna Univ.

    1984-01-01

    The ultrasound appearances of 11 patients with operatively confirmed Mirizzi syndrome have been analysed. The trio 'dilated intrahepatic bile ducts, concretions in the neighbourhood of the dilated common hepatic duct with a normal distal duct' permit the diagnosis of the Mirizzi syndrome with considerable certainty. In five patients these features were found by sonography and no other diagnostic procedure was necessary. In six patients, ERC was carried out in order to evaluate the distal common bile duct. In one case PTC was carried out, since the liver hilum could not be seen on sonography. (orig.) [de

  14. Diagnosis and management of catastrophic antiphospholipid syndrome.

    Science.gov (United States)

    Carmi, Or; Berla, Maya; Shoenfeld, Yehuda; Levy, Yair

    2017-04-01

    Catastrophic antiphospholipid syndrome (CAPS) is a rare, life-threatening disease. In 1992, Asherson defined it as a widespread coagulopathy related to the antiphospholipid antibodies (aPL). CAPS requires rapid diagnosis and prompt initiation of treatment. Areas covered: This paper discusses all aspects of CAPS, including its pathophysiology, clinical manifestations, diagnostic approaches, differential diagnoses, management and treatment of relapsing CAPS, and its prognosis. To obtain the information used in this review, scientific databases were searched using the key words antiphospholipid antibodies, catastrophic antiphospholipid syndrome, hemolytic anemia, lupus anticoagulant, and thrombotic microangiopathic hemolytic anemia. Expert commentary: CAPS is a rare variant of the antiphospholipid syndrome (APS). It is characterized by thrombosis in multiple organs and a cytokine storm developing over a short period, with histopathologic evidence of multiple microthromboses, and laboratory confirmation of high aPL titers. This review discusses the diagnostic challenges and current approaches to the treatment of CAPS.

  15. Symptoms and Diagnosis of Metabolic Syndrome

    Science.gov (United States)

    ... Thromboembolism Aortic Aneurysm More Symptoms and Diagnosis of Metabolic Syndrome Updated:Apr 13,2017 What are the symptoms ... Syndrome? This content was last reviewed August 2016. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  16. Differential diagnosis of small bowel occlusions

    Directory of Open Access Journals (Sweden)

    Paolo Ghiringhelli

    2009-06-01

    Full Text Available Hereditary nonpolyposis colorectal cancer (HNPCC, also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, and microsatellite instability (MSI. Patients with Lynch syndrome have a markedly increased risk of colorectal cancer. We report a case of a 28-year-old male with Lynch syndrome; the case allows to describe clinical manifestations and diagnostic criteria of this syndrome, and to underline the importance of genetics in the diagnosis of this disease.

  17. Cugini's syndrome: its clinical history and diagnosis

    Directory of Open Access Journals (Sweden)

    Laura Gasbarrone

    2013-09-01

    Full Text Available INTRODUCTION: This article deals with the description and diagnosis of a new nosographic syndrome, which received the eponym of "Cugini's syndrome" by the name of the Author who discovered its clinical picture. This syndrome is characterized by the binomial: "minimal target organ damage associated to monitoring prehypertension". CLINICAL HISTORY AND DIAGNOSIS: Between the years 1997 and 2002, the Author published a series of investigations regarding some office normotensives who inexplicably showed incipient signs of target organ damage (TOD. Investigated via ambulatory (A blood (B pressure (P monitoring (M, these subjects were surprisingly found not to be hypertensive. Neverthless, the office normotensives with TOD exibited the daily mean level of their systolic (S and diastolic (D BP (DML SBP/DBP significantly more elevated as compared to true normotensives. Because of these ABPM findings, the Author realized that the investigated subjects were false normotensives whose TOD was associated with a monitoring prehypertension (ABPM-diagnosable prehypertension alias monitoring prehypertension alias masked prehypertension. The year after the last Cugini's investigation, the INC-7 Reports introduced the term: "prehypertension" in its classification of arterial hypertension, as an office sphygmomanometric condition in between office normotension and office hypertension. The ABPM cut-off upper limits for a differential diagnosis between monitoring normotension, prehypertension and hypertension are reported, as calculated by the Author in its collection of ABPMs. The eponym of "Cugini's syndrome" was assigned in 2007 and confirmed in 2009. CONCLUSIVE REMARKS: The monitoring prehypertension is a further condition of discrepancy between office sphygmomanometry and ABPM, as per a masked prehypertension, whose diagnosis has to be immediately diagnosed, for preventing the onset of a TOD. There are reported the present investigations dealing with the possible

  18. Cardiorenal Syndrome: Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    O.O. Melnyk

    2017-02-01

    Full Text Available In the diagnosis of cardiorenal syndrome (CRS, the biological markers are widely used, they can be applied to identify the pathophysiological stages of CRS, to assess the amount of risk, prognosis and outcome, as well as to monitor the effectiveness of treatment. CRS therapy includes diuretics, vasodilators, angiotensin converting enzyme inhibitors, angiotensin II receptor antagonists, nitrates and cardiac glycosides. One of the most effective methods of CRS treatment is the use of renal replacement therapy.

  19. Mialgias: Approaches to differential diagnosis, treatment

    Directory of Open Access Journals (Sweden)

    Nadezhda Aleksandrovna Shostak

    2013-01-01

    Full Text Available Differential diagnosis in muscle pains often presents great difficulties so all existing signs of the disease should be carefully considered to make its diagnosis and to prescribe adequate therapy. The paper considers the causes of muscle pains, laboratory and instrumental studies (immunological tests, determination of the level of specific muscular enzymes, primarily creatine phosphokinase – CPK, etc., and the main reasons for enhanced plasma CPK activity. It also describes acute and chronic mialgias associated with enhanced plasma CPK activity, as well as diseases in which mialgias are related to the normal level of CPK, myofascial syndrome (MFS and fibromyalgia (FM in particular. The characteristic features of MFS are given in its diagnostic criteria. It is stated that a differential diagnosis should be made between MFS and major muscle pain-associated abnormalities, such as polymyalgia rheumatica, FM, etc. Diagnosticcriteria for polymyalgia rheumatica are given. A MFS treatment algorithm is presented. Local exposure methods applied to altered musculoligamentous structures in combination with myorelaxants and non-steroidal anti-inflammatory drugs assume paramount importance in MFS.

  20. Differential diagnosis of amyotrophic lateral sclerosis from Guillain-Barré syndrome by quantitative determination of TDP-43 in cerebrospinal fluid.

    Science.gov (United States)

    Hosokawa, Masato; Arai, Tetsuaki; Yamashita, Makiko; Tsuji, Hiroshi; Nonaka, Takashi; Masuda-Suzukake, Masami; Tamaoka, Akira; Hasegawa, Masato; Akiyama, Haruhiko

    2014-05-01

    The aim of this study was to investigate whether an increased level of TAR DNA-binding protein 43 (TDP-43) in the cerebrospinal fluid (CSF) could be a biomarker for amyotrophic lateral sclerosis (ALS) and facilitate differential diagnosis of ALS from peripheral motor neuropathy. TDP-43 is the major constituent of neuronal and glial inclusions that neuropathologically characterize both ALS and tau-negative frontotemporal lobar degeneration. Recent discoveries of various missense mutations in the TDP-43 gene in familial ALS indicate a pivotal role of the aberrant accumulation of TDP-43 in neurodegeneration. Increased TDP-43 in the CSF could be a hallmark of ALS and other TDP-43 proteinopathy. Sandwich enzyme-linked immunosorbent assay (ELISA) was established to measure the concentration of TDP-43 in biological fluids. Culture supernatants of cells transfected with various TDP-43 constructs were used to confirm that the ELISA detected TDP-43. TDP-43 in the culture supernatant of TDP-43 transfected cells was detected by immunoprecipitation with subsequent immunoblotting and concentrations were successfully measured by sandwich ELISA. We then measured TDP-43 concentrations in the CSF of patients with ALS and Guillain-Barré syndrome (GBS). TDP-43 concentrations in CSF were significantly higher in ALS than in GBS (p = 0.016). The sensitivity of the diagnostic test was 71.4% and the specificity was 84.6%. Quantitative determination of TDP-43 concentrations in the CSF by sandwich ELISA is a potential laboratory test for differentiating ALS from peripheral motor neuropathies such as GBS.

  1. [Differential diagnosis in potency disorders].

    Science.gov (United States)

    Kockott, G; Dittmar, F

    1976-12-02

    Disorders of sexual libido are seldom organic, in general they are of psychological origin. It is, however, difficult to obtain a differential diagnosis. One of the first diagnostic considerations must be the establishment of primary or secondary libidinal dificit, or indeed, whether there is no libido at all. In cases of libido disorders with primary libido dificit, depression, organic disease, or side effects of pharmaca may be the cause. Libido disorders in the presence of functional libido, however, must be regarded as primarily psychologically caused. An exception are libido problems in the presence of diabetes mellitus and peripheral vasculatory defeciencies. In these cases libido is either totally absent or appears only secondarily. The symptomatology of libido disorders in the presence of depression, diabetes melitus, and peripheral vasculatory disturbancies, as well as psychologically caused erectile and ejaculatory difficulties are discussed in detail. These groups are compared with respect to libido and behavior involving erection, ejaculation, anxiety and avoidance.

  2. DIAGNOSIS OF ENDOCRINE DISEASE: Differentiation of pathologic/neoplastic hypercortisolism (Cushing's syndrome) from physiologic/non-neoplastic hypercortisolism (formerly known as pseudo-Cushing's syndrome).

    Science.gov (United States)

    Findling, James W; Raff, Hershel

    2017-05-01

    Endogenous hypercortisolism (Cushing's syndrome) usually implies the presence of a pathologic condition caused by either an ACTH-secreting neoplasm or autonomous cortisol secretion from a benign or malignant adrenal neoplasm. However, sustained or intermittent hypercortisolism may also accompany many medical disorders that stimulate physiologic/non-neoplastic activation of the HPA axis (formerly known as pseudo-Cushing's syndrome); these two entities may share indistinguishable clinical and biochemical features. A thorough history and physical examination is often the best (and sometimes only) way to exclude pathologic/neoplastic hypercortisolism. The presence of alcoholism, renal failure, poorly controlled diabetes and severe neuropsychiatric disorders should always raise suspicion that the presence of hypercortisolism may be related to physiologic/non-neoplastic Cushing's syndrome. As late-night salivary cortisol and low-dose dexamethasone suppression have good sensitivity and negative predictive value, normal studies exclude Cushing's syndrome of any form. However, these tests have imperfect specificity and additional testing over time with clinical follow-up is often needed. When there is persistent diagnostic uncertainty, secondary tests such as the DDAVP stimulation test and the dexamethasone-CRH test may provide evidence for the presence or absence of an ACTH-secreting tumor. This review will define and characterize the numerous causes of physiologic/non-neoplastic hypercortisolism and provide a rational clinical and biochemical approach to distinguish it from pathologic/neoplastic hypercortisolism (true Cushing's syndrome). © 2017 European Society of Endocrinology.

  3. Diagnosis in the cushing's syndrome revisited

    International Nuclear Information System (INIS)

    De Marinis, L.; Mancini, A.; D'Amico, C.

    1986-01-01

    The diagnostic procedure for the differential diagnosis of Cushing's syndrome is reported in this paper based on the experience of 23 cases. Inappropiate cortisol secretion was established by an absent cortisol circadian rhythm and absent cortisol suppression after overnight dexamethasone suppression test. The ACTH serum levels were then determined in basal conditions and after insulin-induced hypoglycemia (0.15 U/kg b.w. insulin i.v.). ACTH was low or undetectable in 9 patients, and high or normal-high in 14 patients. In the first group of patients an adrenal trasmission computed tomography (CT) was performed and showd an adrenal adenima in 6 patients, adrenal carcinoma in 2 patients and hyperplasia of residual adrenal gland in 1 patient, who had previously undergone monolateral adrenalectomy. These patients underwent surgical treatment, except the patient with adrenal hyperplasia. In the second group of patients, negative in 4 patients, doubtful in 1 patient. Surgical exploration by transsphenoidal route was performed, and an ACTH-producing adenima removed in all cases. Radicalization with hypophysectomy was necessary in 2 patients, while other 2 patients are under observation for the suspicion of a recurrent pituitary tumor. In all patients adrenal scintiscan was also performed, and confirmed the suspicion pointed out by CT scan. A relatively simple protocol with a functional test (ACTH determination) and a morphological one (computed tomography), can be reliably applied in the differential diagnosis of Cushing syndrome

  4. Diagnosis in the cushing's syndrome revisited

    Energy Technology Data Exchange (ETDEWEB)

    De Marinis, L; Mancini, A; D' Amico, C and others

    1986-01-01

    The diagnostic procedure for the differential diagnosis of Cushing's syndrome is reported in this paper based on the experience of 23 cases. Inappropiate cortisol secretion was established by an absent cortisol circadian rhythm and absent cortisol suppression after overnight dexamethasone suppression test. The ACTH serum levels were then determined in basal conditions and after insulin-induced hypoglycemia (0.15 U/kg b.w. insulin i.v.). ACTH was low or undetectable in 9 patients, and high or normal-high in 14 patients. In the first group of patients an adrenal trasmission computed tomography (CT) was performed and showd an adrenal adenima in 6 patients, adrenal carcinoma in 2 patients and hyperplasia of residual adrenal gland in 1 patient, who had previously undergone monolateral adrenalectomy. These patients underwent surgical treatment, except the patient with adrenal hyperplasia. In the second group of patients, negative in 4 patients, doubtful in 1 patient. Surgical exploration by transsphenoidal route was performed, and an ACTH-producing adenima removed in all cases. Radicalization with hypophysectomy was necessary in 2 patients, while other 2 patients are under observation for the suspicion of a recurrent pituitary tumor. In all patients adrenal scintiscan was also performed, and confirmed the suspicion pointed out by CT scan. A relatively simple protocol with a functional test (ACTH determination) and a morphological one (computed tomography), can be reliably applied in the differential diagnosis of Cushing syndrome. 62 refs.

  5. Differential diagnosis of radiation injury

    Energy Technology Data Exchange (ETDEWEB)

    Wendt, F

    1971-04-01

    A single haematological alteration is not sufficient to diagnose whether it is a radiation-induced change or not. For the differential diagnosis of possibly radiation-induced changes in the peripheral blood and blood-forming organs, information on the radiation exposure in terms of time, quality, quantity and localization, and the clinical symptoms have to be taken into account. Ionizing radiation within the dosage range considered here produces cell division delay, mitotic inhibition, chromosomal damage or interphase cell death; it thereby interferes with the steady-state equilibria in the cell-renewal systems of the organism (Bond et al., 1965; Little, 1968). The cause of haematological changes appearing immediately after a short-term, external whole-body radiation exposure has been described and analysed elsewhere in this Manual. The critical cell component is the 'stem cell compartment' which is highly radiosensitive and suffers damage but, because stem cells cannot be identified morphologically, a direct study of stem cell injury is not possible.

  6. Síndrome CINCA: um diagnóstico diferencial da artrite idiopática juvenil CINCA syndrome: a differential diagnosis of the juvenile idiopathic arthritis

    Directory of Open Access Journals (Sweden)

    Erica Naomi Naka

    2007-08-01

    knees since her 9 months. On admission she looked sick, pale and presented generalized erythematosus maculopapular rash, arthritis of the knees and ankles. She presented growth and mental retardation too. Laboratory Endings included anemia, leukocytosis, thrombocytosis, elevated C-reactive protein levels and the examination Endings from the cerebrospinal fluid showed an aseptic meningitis. Other test results were negative. Radiographs of the knees, hips and ankles revealed abonrmalities. The child received treatment with nonsteroidal anti-inflammatory drugs, corticosteroids and methotrexate, with partial response to treatment, leading to improvement in pain and fever defervescence. The etiology of CINCA syndrome remains unknown and no single treatment has been found to be effective. This disease should be distinguished from systemic onset juvenile idiophatic arthritis (JIA, the main differential diagnosis.

  7. Pai syndrome: challenging prenatal diagnosis and management

    Energy Technology Data Exchange (ETDEWEB)

    Blouet, Marie [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); University of Lower Normandie, Caen (France); Belloy, Frederique [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); Jeanne-Pasquier, Corinne [Centre Hospitalier Universitaire de Caen, Department of Pathology, Caen (France); Leporrier, Nathalie [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire de Caen, Department of Genetics, Caen (France); Benoist, Guillaume [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire, Pole Femmes-Enfants, Department of Obstetrics and Gynecology, Caen (France)

    2014-09-15

    Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome. (orig.)

  8. Diabetes insipidus: Differential diagnosis and management.

    Science.gov (United States)

    Robertson, Gary L

    2016-03-01

    Diabetes insipidus (DI) is a syndrome characterized by the excretion of abnormally large volumes of dilute urine. It can be caused by any of 4 fundamentally different defects that must be distinguished for safe and effective management. They are: (1) pituitary DI, due to inadequate production and secretion of antidiuretic hormone, arginine-vasopressin (AVP); (2) gestational DI due to degradation of AVP by an enzyme made in placenta; (3) primary polydipsia, due to suppression of AVP secretion by excessive fluid intake; and (4) nephrogenic DI due to renal insensitivity to the antidiuretic effect of AVP. This review describes several methods of differential diagnosis, indicates the advantages and disadvantages of each and presents a new approach that is simpler and less costly but just as reliable as the best of the older methods. The various treatments for the different types of DI and recent findings on the genetic basis of the familial forms of DI are also discussed with emphasis on their contributions to improved diagnosis and management. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Fibromyalgia Syndrome: Etiology, Pathogenesis, Diagnosis, and Treatment

    Science.gov (United States)

    Bellato, Enrico; Marini, Eleonora; Castoldi, Filippo; Barbasetti, Nicola; Mattei, Lorenzo; Bonasia, Davide Edoardo; Blonna, Davide

    2012-01-01

    Fibromyalgia syndrome is mainly characterized by pain, fatigue, and sleep disruption. The etiology of fibromyalgia is still unclear: if central sensitization is considered to be the main mechanism involved, then many other factors, genetic, immunological, and hormonal, may play an important role. The diagnosis is typically clinical (there are no laboratory abnormalities) and the physician must concentrate on pain and on its features. Additional symptoms (e.g., Raynaud's phenomenon, irritable bowel disease, and heat and cold intolerance) can be associated with this condition. A careful differential diagnosis is mandatory: fibromyalgia is not a diagnosis of exclusion. Since 1990, diagnosis has been principally based on the two major diagnostic criteria defined by the ACR. Recently, new criteria have been proposed. The main goals of the treatment are to alleviate pain, increase restorative sleep, and improve physical function. A multidisciplinary approach is optimal. While most nonsteroidal anti-inflammatory drugs and opioids have limited benefit, an important role is played by antidepressants and neuromodulating antiepileptics: currently duloxetine (NNT for a 30% pain reduction 7.2), milnacipran (NNT 19), and pregabalin (NNT 8.6) are the only drugs approved by the US Food and Drug Administration for the treatment of fibromyalgia. In addition, nonpharmacological treatments should be associated with drug therapy. PMID:23213512

  10. Diagnosis in Prader-Willi syndrome.

    OpenAIRE

    Chu, C E; Cooke, A; Stephenson, J B; Tolmie, J L; Clarke, B; Parry-Jones, W L; Connor, J M; Donaldson, M D

    1994-01-01

    Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with caution unless confirmed by molecular genetic studies.

  11. Burning mouth syndrome: a review on diagnosis and treatment.

    Science.gov (United States)

    Coculescu, E C; Radu, A; Coculescu, B I

    2014-01-01

    Burning mouth syndrome (BMS) is defined as a chronic pain condition characterized by a burning sensation in the clinically healthy oral mucosa. It is difficult to diagnose BMS because there is a discrepancy between the severity, extensive objective pain felt by the patient and the absence of any clinical changes of the oral mucosa. This review presents some aspects of BMS, including its clinical diagnosis, classification, differential diagnosis, general treatment, evolution and prognosis.

  12. Diagnosis and differential diagnosis of hydrocephalus in adults

    International Nuclear Information System (INIS)

    Langner, Soenke; Mensel, Birger; Kuehn, Jens Peter; Kirsch, Michael; Fleck, Steffen; Baldauf, Joerg

    2017-01-01

    Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients.

  13. Aids to radiological differential diagnosis

    International Nuclear Information System (INIS)

    Chapman, S.; Nakielny, R.

    1984-01-01

    This book is composed of lists of differential diagnoses divided into categories: bone, spine, joints, respiratory, cardio-vascular, abdomen, gastrointestinal, urinary tract, soft tissues, face and neck, and skull and brain. It does not contain any reproductions of radiographs

  14. Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia

    Energy Technology Data Exchange (ETDEWEB)

    Koerber, Friederike; Benz-Bohm, Gabriele [University of Cologne, Department of Paediatric Radiology, Cologne (Germany); Schoenau, Eckard [University of Cologne, Department of Paediatrics, Cologne (Germany); Horwitz, A.Eldad [Klinikum Krefeld, Department of Paediatric Radiology, Krefeld (Germany)

    2005-06-01

    The isolated form of femoral bowing is an important differential diagnosis of campomelia. Therefore, knowledge of isolated anomalies is fundamental for prenatal diagnosis, especially for the differential diagnosis from severe syndromes. Four cases are presented to discuss the differential diagnosis of femoral bowing including a review of the literature. We report four newborn babies with unilateral bowing and shortening of the femur. Three had no further anomaly; one child had additional abnormalities due to coumarin embryopathy. The radiological findings were shortened femora with bowing and varus deformity and cortical thickening on the concave side. All other parts showed normal bone structure. The aetiology of femoral bowing is unknown. Early damage of the cartilaginous model followed by remodelling with thickening on the concave side of the bone similar to the healing of malaligned fractures is suspected. The isolated form of femoral bowing without any other anomalies has to be differentiated from complex and more often severe congenital syndromes such as campomelia. Postpartum radiological examination should be reduced to a single exposure of the affected limb and follow-up should be done by clinical examination. (orig.)

  15. Wolfram Syndrome: Diagnosis, Management, and Treatment.

    Science.gov (United States)

    Urano, Fumihiko

    2016-01-01

    Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis of this syndrome is currently poor, and many patients die prematurely with severe neurological disabilities, raising the urgency for developing novel treatments for Wolfram syndrome. In this article, we describe natural history and etiology, provide recommendations for diagnosis and clinical management, and introduce new treatments for Wolfram syndrome.

  16. Differential diagnosis of disseminated periventricular calcifications

    International Nuclear Information System (INIS)

    Rieger, P.; Piepgras, U.

    1986-01-01

    Juvenile disseminated periventricular calcifications may occur in tuberous sclerosis, toxoplasmosis, cytomegaly, and in tuberculous meningitis. Cysticercosis, by contrast, does not result in corresponding intracerebral foci until an older age. Differential diagnosis is no problem if clinical findings are typical (tuberous sclerosis) or if serological verification is positive. However, any unclear clinical diagnosis can often be secured by CT. (orig.) [de

  17. Differential diagnosis of disseminated periventricular calcifications

    Energy Technology Data Exchange (ETDEWEB)

    Rieger, P.; Piepgras, U.

    1986-08-01

    Juvenile disseminated periventricular calcifications may occur in tuberous sclerosis, toxoplasmosis, cytomegaly, and in tuberculous meningitis. Cysticercosis, by contrast, does not result in corresponding intracerebral foci until an older age. Differential diagnosis is no problem if clinical findings are typical (tuberous sclerosis) or if serological verification is positive. However, any unclear clinical diagnosis can often be secured by CT.

  18. POLYMYOSITIS/DERMATOMIOSITIS: DIFFERENTIAL DIAGNOSIS

    Directory of Open Access Journals (Sweden)

    O. A. Antelava

    2016-01-01

    Full Text Available The lecture considers the problem of rare systemic connective tissue diseases, such as idiopathic inflammatory myopathies (IIMs. It underlines the clinical and immunological heterogeneity of their subtypes, which defines therapeutic tactics and prognosis. The diagnostic criteria for IIMs are given. A differential diagnostic algorithm based on the exclusion of phenotypically similar forms of myopathies of different genesis is proposed. 

  19. Pulmonary edema: radiographic differential diagnosis

    International Nuclear Information System (INIS)

    Yoo, Dong Soo; Choi, Young Hi; Kim, Seung Cheol; An, Ji Hyun; Lee, Jee Young; Park, Hee Hong

    1997-01-01

    To evaluate the feasibility of using chest radiography to differentiate between three different etiologies of pulmonary edema. Plain chest radiographs of 77 patients, who were clinically confirmed as having pulmonary edema, were retrospectively reviewed. The patients were classified into three groups : group 1 (cardiogenic edema : n = 35), group 2 (renal pulmonary edema : n = 16) and group 3 (permeability edema : n = 26). We analyzed the radiologic findings of air bronchogram, heart size, peribronchial cuffing, septal line, pleural effusion, vascular pedicle width, pulmonary blood flow distribution and distribution of pulmonary edema. In a search for radiologic findings which would help in the differentiation of these three etiologies, each finding was assessed. Cardiogenic and renal pulmonary edema showed overlapping radiologic findings, except for pulmonary blood flow distribution. In cardiogenic pulmonary edema (n=35), cardiomegaly (n=29), peribronchial cuffing (n=29), inverted pulmonary blood flow distribution (n=21) and basal distribution of edema (n=20) were common. In renal pulmonary edema (n=16), cardiomegaly (n=15), balanced blood flow distribution (n=12), and central (n=9) or basal distribution of edema (n=7) were common. Permeability edema (n=26) showed different findings. Air bronchogram (n=25), normal blood flow distribution (n=14) and peripheral distribution of edema (n=21) were frequent findings, while cardiomegaly (n=7), peribronchial cuffing (n=7) and septal line (n=5) were observed in only a few cases. On plain chest radiograph, permeability edema can be differentiated from cardiogenic or renal pulmonary edema. The radiographic findings which most reliably differentiated these two etiologies were air bronchogram, distribution of pulmonary edema, peribronchial cuffing and heart size. Only blood flow distribution was useful for radiographic differentiation of cardiogenic and renal edema

  20. Differential diagnosis of retinal vasculitis.

    Science.gov (United States)

    Abu El-Asrar, Ahmed M; Herbort, Carl P; Tabbara, Khalid F

    2009-10-01

    Retinal vaculitis is a sight-threatening inflammatory eye condition that involves the retinal vessels. Detection of retinal vasculitis is made clinically, and confirmed with the help of fundus fluorescein angiography. Active vascular disease is characterized by exudates around retinal vessels resulting in white sheathing or cuffing of the affected vessels. In this review, a practical approach to the diagnosis of retinal vasculitis is discussed based on ophthalmoscopic and fundus fluorescein angiographic findings.

  1. Differential diagnosis of inflammatory lung affections by x-ray in children

    Energy Technology Data Exchange (ETDEWEB)

    Faerber, D.

    1980-01-01

    As a consequence of the rise in neonatal infections by ..beta..-streptococci the clinical respiratory distress syndrome in neonates is becoming increasingly important for differential diagnosis. The present paper reports on special problems in differential X-ray diagnosis of ..beta..-streptococcus pneumonia as compared to inflammatory lung affections attributable to various causes.

  2. Radiological diagnosis in AIDS - associated diseases: survey and differential diagnosis

    International Nuclear Information System (INIS)

    Rademaker, J.; Frahm, C.

    1997-01-01

    Acute manifestations of illnesses in patients with HIV-infection or AIDS will benefit from rapid diagnosis. Radiologic examinations provide substantial information to narrow the differential diagnosis. This article reviews clinically important HIV-associated diseases for the radiologist. The braod spectrum of possible manifestations is illustrated by the accompanying case reports that typify the complexity of diagnoses in this growing problem worldwide. (orig.) [de

  3. [Differential diagnosis of abdominal pain].

    Science.gov (United States)

    Frei, Pascal

    2015-09-02

    Despite the frequency of functional abdominal pain, potentially dangerous causes of abdominal pain need to be excluded. Medical history and clinical examination must focus on red flags and signs for imflammatory or malignant diseases. See the patient twice in the case of severe and acute abdominal pain if lab parameters or radiological examinations are normal. Avoid repeated and useless X-ray exposure whenever possible. In the case of subacute or chronic abdominal pain, lab tests such as fecal calprotectin, helicobacter stool antigen and serological tests for celiac disease are very useful. Elderly patients may show atypical or missing clinical signs. Take care of red herrings and be skeptical whether your initial diagnosis is really correct. Abdominal pain can frequently be an abdominal wall pain.

  4. Diagnosis and Differential Diagnosis of Hydrocephalus in Adults.

    Science.gov (United States)

    Langner, Sönke; Fleck, Steffen; Baldauf, Jörg; Mensel, Birger; Kühn, Jens Peter; Kirsch, Michael

    2017-08-01

    Purpose  Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. Methods  This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Results and Conclusion  Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients. Key points   · Occlusive hydrocephalus is caused by obstruction of CSF pathways.. · Malabsorptive hydrocephalus is caused by impaired CSF absorption.. · The MR imaging protocol should always include sagittal high-resolution T2-weighted images.. · When an inflammatory etiology is suspected, imaging with contrast agent administration is necessary.. Citation Format · Langner S, Fleck S, Baldauf J et al. Diagnosis and Differential Diagnosis of Hydrocephalus in Adults. Fortschr Röntgenstr 2017; 189: 728 - 739. © Georg Thieme Verlag KG Stuttgart · New York.

  5. DIFFERENTIAL DIAGNOSIS OF NORMOCALCEMIC HYPERPARATHYROIDISM

    Directory of Open Access Journals (Sweden)

    N. A. Kravchun

    2015-01-01

    Full Text Available Objective: to describe a case of normocalcemic hyperparathyroidism.Materials and methods. A female patient aged 51 years sought medical advice for complaints of spinal column and bone pains, periodic dizziness, and hand numbness. The patient underwent clinical and biochemical blood tests, determination of the blood levels of calcium, phosphorus, parathyroid hormone, concentrations of total vitamin D, calciuria, electrocardiography, thyroid ultrasonography, and neck computed tomography.Results. Based on her complaints, examination evidence, evaluation of the clinical presentations of the disease, and objective and instrumental examination findings, the patient was diagnosed with left parathyroid adenoma and primary hyperparathyroidism; stage II hypertensive disease, grade I, a moderate risk; retinal angiopathy of both eyes; stage I dyscirculatory encephalopathy with liquor and venous dyscirculation and moderate vestibular ataxia; urolithiasis; kidney stones; and spondylosis mainly involving the lumbar spine. The diagnostic determinants for verifying the diagnosis were the results of neck computed tomography, namely: the signs of space-occupying lesion in the projection of the left parathyroid gland; the blood level of parathyroid hormone 118.6 pg/ml (normal value (N 9.5–75.0 pg/ml; total vitamin D 21.64 nmol/l (N 75–250 nmol/l; and calcium 2.48 mmol/l (N 2.15–2.50 mmol/l. The history of urolithiasis, repeated lithotripsy, as well as spondylosis with lumboischalgia was an absolute indication for surgical treatment.Conclusion. The practical interest in this case is due to the complexity of diagnosing normocalcemic hyperparathyroidism after vitamin D deficiency. The early stages of primary hyperparathyroidism are asymptomatic and frequently give rise to irreversible renal complications, causing renal failure and, as a consequence, disability. This clinical case demonstrates the importance of routinely determining vitamin D concentrations

  6. Diagnosis and differential diagnosis of Graves' orbitopathy in MRI

    International Nuclear Information System (INIS)

    Daubner, D.; Spieth, S.; Engellandt, K.; Kummer, R. von

    2012-01-01

    Imaging of Graves' orbitopathy (GO) includes radiological and nuclear medicine procedures. Depending on the method used they provide information about the distribution and activity of the disease. Magnetic resonance imaging (MRI) is not only a helpful tool for making the diagnosis it also enables differentiation of the active and inactive forms of GO due to intramuscular edema. The modality is therefore appropriate to evaluate the disease activity and the course of therapy. The disease leads to the typical enlargement of the muscle bodies of the extraocular muscles. The inferior rectus, medial rectus and levator palpebrae muscles are mostly involved. Signal changes of the intraconal and extraconal fat tissue are possible and a bilateral manifestation is common. The differential diagnosis includes inflammatory diseases and tumors, of which orbital pseudotumor (idiopathic, unspecific orbital inflammation), ocular myositis and orbital lymphoma are the most important. The specific patterns (localization, involvement of orbital structures and signal changes) can be differentiated by MRI. (orig.) [de

  7. CLINICAL AND MORPHOLOGICAL APPROACH TO DIAGNOSIS OF "IDIOPATHIC" ARRHYTHMIAS AND DILATED CARDIOMYOPATHY SYNDROME AS A BASIS FOR DIFFERENTIATED THERAPY. Part II (Treatment

    Directory of Open Access Journals (Sweden)

    O. V. Blagova

    2014-01-01

    Full Text Available Part I (Diagnostics, was published in the journal “Rational Pharmacotherapy in Cardiology” 2014;10(1:62-72Aim. To develop a comprehensive clinical and morphological approach to the nosological diagnosis and treatment of "idiopathic" arrhythmias (IA and the syndrome of dilated cardiomyopathy (DCM.Material and methods. Patients (n=320 with IA (n=190; 117 women, age 45.3±14.8 years and DCM (n=130, 41 women, age 46.9±12.5 years were included in the main group. 51 people (patients with ischemic heart disease; heart valve disease, hypertrophic cardiomyopathy, who underwent open-heart surgery; healthy volunteers were included in the control group. Along with the standard tests evaluation of the level of anti-heart antibodies (185 patients with IA and 122 with DCM, viral serology (166 and 122, multispiral computed tomography (42 and 88, cardiac magnetic resonance imaging (41 and 22, coronary angiography (19 and 54, myocardial biopsy/autopsy (19/0 and 33/9 were performed.Results. According to morphological study infectious-immune myocarditis was found in 78.9% patients with IA and 66.7% patients with DCM, arrhythmogenic right ventricular dysplasia in 5.3% and 4.8% of patients, respectively. Other genetic cardiomyopathies, including combination with myocarditis were revealed in other patients. The frequency of the viral genome detection in the myocardium in IA, DCM and the control group was 17.6%, 66.7% and 77.1%, respectively. However in the control group the incidence of myocarditis and anti-heart antibodies titers were significantly lower than in the main group, where a strong correlation between myocarditis and anti-heart antibodies titers was found. The algorithm of noninvasive nosological diagnostics was developed; it allowed to verify diagnosis in 95% of IA patients and 89% DCM patientsThe basic therapy (antiviral drugs, corticosteroids, hydroxychloroquine, azathioprine was performed in some patients with myocarditis. Improving of the

  8. CLINICAL AND MORPHOLOGICAL APPROACH TO DIAGNOSIS OF "IDIOPATHIC" ARRHYTHMIAS AND DILATED CARDIOMYOPATHY SYNDROME AS A BASIS FOR DIFFERENTIATED THERAPY. Part II (Treatment

    Directory of Open Access Journals (Sweden)

    O. V. Blagova

    2015-09-01

    Full Text Available Part I (Diagnostics, was published in the journal “Rational Pharmacotherapy in Cardiology” 2014;10(1:62-72Aim. To develop a comprehensive clinical and morphological approach to the nosological diagnosis and treatment of "idiopathic" arrhythmias (IA and the syndrome of dilated cardiomyopathy (DCM.Material and methods. Patients (n=320 with IA (n=190; 117 women, age 45.3±14.8 years and DCM (n=130, 41 women, age 46.9±12.5 years were included in the main group. 51 people (patients with ischemic heart disease; heart valve disease, hypertrophic cardiomyopathy, who underwent open-heart surgery; healthy volunteers were included in the control group. Along with the standard tests evaluation of the level of anti-heart antibodies (185 patients with IA and 122 with DCM, viral serology (166 and 122, multispiral computed tomography (42 and 88, cardiac magnetic resonance imaging (41 and 22, coronary angiography (19 and 54, myocardial biopsy/autopsy (19/0 and 33/9 were performed.Results. According to morphological study infectious-immune myocarditis was found in 78.9% patients with IA and 66.7% patients with DCM, arrhythmogenic right ventricular dysplasia in 5.3% and 4.8% of patients, respectively. Other genetic cardiomyopathies, including combination with myocarditis were revealed in other patients. The frequency of the viral genome detection in the myocardium in IA, DCM and the control group was 17.6%, 66.7% and 77.1%, respectively. However in the control group the incidence of myocarditis and anti-heart antibodies titers were significantly lower than in the main group, where a strong correlation between myocarditis and anti-heart antibodies titers was found. The algorithm of noninvasive nosological diagnostics was developed; it allowed to verify diagnosis in 95% of IA patients and 89% DCM patientsThe basic therapy (antiviral drugs, corticosteroids, hydroxychloroquine, azathioprine was performed in some patients with myocarditis. Improving of the

  9. Differential diagnosis of myelitis; Differenzialdiagnostik der Myelitis

    Energy Technology Data Exchange (ETDEWEB)

    Langner, Soenke [Universitaetsmedizin Greifswald (Germany). Inst. fuer Diagnostische Radiologie und Neuroradiologie

    2016-09-15

    Acute transverse Myelitis is an inflammatory myelopathy characterized by rapid onset of bilateral neurological symptoms. There is a vast array of differential diagnoses and the underlying pathology often cannot be identified on clinical examination alone. Therefore neuroimaging has a central role in narrowing the differential diagnosis. This review aims to provide a summary of common causes of non-traumatic myelopathies, many of which may have similar radiological appearance.

  10. Síndrome de Cogan: apresentação de caso e diagnóstico diferencial Differential diagnosis between Cogan's syndrome

    Directory of Open Access Journals (Sweden)

    Mariana Dantas Aumond

    2002-05-01

    Full Text Available A síndrome de Cogan é uma doença de difícil diagnóstico pois não apresenta nenhum marcador laboratorial específico, assim como a neuronite vestibular. As características clínicas da síndrome de Cogan são: ceratite intersticial não-luética associada à vertigem, tinnitus e disacusia neurossensorial. Evidências de vasculite sistêmica são encontradas em 50% dos pacientes. As formas atípicas da síndrome de Cogan abrangem doenças oculares inflamatórias mais severas. As características clínicas da Neuronite Vestibular são: vertigem incapacitante de aparecimento abrupto e não responsiva ao tratamento clínico, sem associação com alterações cocleares. Exemplificamos essa dificuldade diagnóstica com o caso de um paciente que iniciou quadro de vertigem súbita incapacitante associada à febre e algia ocular unilateral. O paciente foi hospitalizado, sendo iniciada a terapêutica para síndrome vestibular, não respondendo à medicação. Após uma semana, evoluiu com lesão ocular caracterizada por esclerouveíte anterior. Com quinze dias de evolução o paciente apresentou quadro de disacusia neurossensorial rapidamente progressiva. O exame vestibular evidenciou arreflexia à esquerda, ipsilateral à disacusia neurossensorial. A ressonância magnética evidenciou sinais de microvasculite em sistema nervoso central sendo diagnosticada a síndrome de Cogan. Foi iniciada terapia com corticóide oral e pulsoterapia com ciclofosfamida, havendo melhora total da vertigem, do desequilíbrio e da alteração ocular e com melhora parcial da disacusia.Cogan's syndrome is a disease of difficult diagnosis as there is no specific laboratorial exam and the same occurs with Vestibular Neurinitis. The clinical features of Cogan's syndrome are nonsyphilitic interstitial keratitis and vestibuloauditory dysfunction. Evidences of systemic vasculitis are found in 50% of the patients. The atypical forms of Cogan's syndrome array more severe

  11. Prostatic paracoccidioidomycosis: differential diagnosis of prostate cancer

    Directory of Open Access Journals (Sweden)

    Daniel Lima Lopes

    2009-02-01

    Full Text Available Symptomatic prostatic paracoccidioidomycosis (PCM is a very rare condition; however, it may express as a typical benign prostatic hyperplasia or a simulating prostatic adenocarcinoma. This case report presents PCM mimicking prostatic adenocarcinoma. The purpose of this paper is to call the general physician's attention to this important differential diagnosis.

  12. Differential diagnosis of ataque de nervios.

    Science.gov (United States)

    Oquendo, M A

    1995-01-01

    Characteristics of ataque de nervios, a culturally condoned expression of distress that is most frequently seen in Hispanic women, are described. It has symptoms in common with affective and anxiety disorders, with which it can co-occur, and these are delineated for purposes of differential diagnosis. Possible reasons for the preponderance of the condition in women are discussed, along with suggested intervention strategies.

  13. CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA

    Directory of Open Access Journals (Sweden)

    N.V. Zhurkova

    2008-01-01

    Full Text Available The data of different firms of hereditary galactosemia was analyzed in this article. Clinical and biochemical characteristics and molecular and genetic features of diagnostics of this disease were described. The information about differential diagnosis and problems, related with hereditary galactozemia screening in Russia was given.Key words: children, galactosemia, treatment, screening.

  14. Differential diagnosis in the pediatric radiology

    International Nuclear Information System (INIS)

    Rijn, Rick R. van; Blickmann, Johan G.

    2012-01-01

    The book on differential diagnosis in the pediatric radiology covers the following issues: (1) Thorax, mediastinum, heart ad large blood vessels. (2) Abdomen and gastrointestinal tract. (3) Urogenital tract. (4) Skull, intracranial space and spinal cord. (5) Skeleton, bone joints and soft tissue. (6) Normative values.

  15. Hepatorenal Syndrome: Diagnosis and Treatment – newsreel –

    Directory of Open Access Journals (Sweden)

    Enescu Aurelia

    2016-09-01

    Full Text Available Hepatorenal syndrome (HRS is defined as renal failure that occurs in the presence of severe acute or chronic liver disease in the absence of underlying renal pathology. Due to the functional nature of the disease and the absence of specific diagnostic markers, HRS diagnosis is determined based on positive criteria associated with excluding other causes of renal failure in patients with liver cirrhosis and ascites. Differentiation from other types of acute or chronic renal disease is extremely difficult and therapeutic options are limited, prophylactic behavior is most appropriate in patients with severe hepatic disease and risk factors for the installation of hepatorenal syndrome.

  16. Differential diagnostic of the burnout syndrome.

    Science.gov (United States)

    Korczak, Dieter; Huber, Beate; Kister, Christine

    2010-07-05

    significant others (for example patients). There is no evidence for stigmatization of persons with burnout. The evidence of the majority of the studies is predominantly low. Most of the studies are descriptive and explorative. Self-assessment tools are mainly used, overall the Maslach Burnout Inventory (MBI). Objective data like medical parameters, health status, sick notes or judgements by third persons are extremely seldomly included in the studies. The sample construction is coincidental in the majority of cases, response rates are often low. Almost no longitudinal studies are available. There are insufficient results on the stability and the duration of related symptoms. The ambiguity of the burnout diagnosis is regularly neglected in the studies. The authors conclude, that (1) further research, particularly high-quality studies are needed, to broaden the understanding of the burnout syndrome. Equally (2) a definition of the burnout syndrome has to be found which goes beyond the published understanding of burnout and is based on common scientific consent. Furthermore, there is a need (3) for finding a standardized, international accepted and valid procedure for the differentiated diagnostics of burnout and for (4) developing a third party assessment tool for the diagnosis of burnout. Finally, (5) the economic effects and implication of burnout diagnostics on the economy, the health insurances and the patients have to be analysed.

  17. Differential diagnostic of the burnout syndrome

    Directory of Open Access Journals (Sweden)

    Kister, Christine

    2010-01-01

    derogation of work performance it can have also negative effects on significant others (for example patients. There is no evidence for stigmatization of persons with burnout. Discussion: The evidence of the majority of the studies is predominantly low. Most of the studies are descriptive and explorative. Self-assessment tools are mainly used, overall the Maslach Burnout Inventory (MBI. Objective data like medical parameters, health status, sick notes or judgements by third persons are extremely seldomly included in the studies. The sample construction is coincidental in the majority of cases, response rates are often low. Almost no longitudinal studies are available. There are insufficient results on the stability and the duration of related symptoms. The ambiguity of the burnout diagnosis is regularly neglected in the studies. Conclusions: The authors conclude, that (1 further research, particularly high-quality studies are needed, to broaden the understanding of the burnout syndrome. Equally (2 a definition of the burnout syndrome has to be found which goes beyond the published understanding of burnout and is based on common scientific consent. Furthermore, there is a need (3 for finding a standardized, international accepted and valid procedure for the differentiated diagnostics of burnout and for (4 developing a third party assessment tool for the diagnosis of burnout. Finally, (5 the economic effects and implication of burnout diagnostics on the economy, the health insurances and the patients have to be analysed.

  18. Cushing's syndrome: from physiological principles to diagnosis and clinical care

    Science.gov (United States)

    Raff, Hershel; Carroll, Ty

    2015-01-01

    The physiological control of cortisol synthesis in the adrenal cortex involves stimulation of adrenocorticotrophic hormone (ACTH) by hypothalamic corticotrophin-releasing hormone (CRH) and then stimulation of the adrenal by ACTH. The control loop of the hypothalamic–pituitary–adrenal (HPA) axis is closed by negative feedback of cortisol on the hypothalamus and pituitary. Understanding this system is required to master the diagnosis, differential diagnosis and treatment of endogenous hypercortisolism – Cushing's syndrome. Endogenous Cushing's syndrome is caused either by excess ACTH secretion or by autonomous cortisol release from the adrenal cortex. Diagnosis of cortisol excess exploits three physiological principles: failure to achieve the normal nadir in the cortisol diurnal rhythm, loss of sensitivity of ACTH-secreting tumours to cortisol negative feedback, and increased excretion of free cortisol in the urine. Differentiating a pituitary source of excess ACTH (Cushing's disease) from an ectopic source is accomplished by imaging the pituitary and sampling for ACTH in the venous drainage of the pituitary. With surgical removal of ACTH or cortisol-secreting tumours, secondary adrenal insufficiency ensues because of the prior suppression of the HPA axis by glucocorticoid negative feedback. Medical therapy is targeted to the anatomical location of the dysregulated component of the HPA axis. Future research will focus on new diagnostics and treatments of Cushing's syndrome. These are elegant examples of translational research: understanding basic physiology informs the development of new approaches to diagnosis and treatment. Appreciating pathophysiology generates new areas for inquiry of basic physiological and biochemical mechanisms. PMID:25480800

  19. Tendon overuse syndrome: imaging diagnosis

    International Nuclear Information System (INIS)

    Huber, W.; Nehrer, S.; Muellner, T.; Kainberger, F.; Ulreich, N.; Bernhard, C.; Imhof, H.

    2001-01-01

    Injuries of muscles and tendons occur commonly during various sporting activities and in most cases the athletes feel such an accident to be sudden and unavoidable. The rupture of a tendon, however, has to be considered in many cases as the final stage of a long-standing progressive degeneration of collagen fibers. This process con be described as 'tendon overuse syndrome (TOS)'. Diagnostic imaging modalities, especially sonography and MRI, are suitable to detect and analyse the different stages of this syndrome and the degree of morphological abnormalities. The first stage is painful functional derangement, followed by tendovaginitis, peritendinitis, or bursitis. The third stage is tendinosis resulting from biomechanical or ischaemic injury of tendon fibers which may eventually be followed by partial or complete rupture. Regional or individual specifications of these four stages may occur at anatomically predisposing sites, so-called critical zones, or during periods of specific proneness, the vulnerable phases. (author)

  20. Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

    Science.gov (United States)

    Neuhäuser, G; Opitz, J M

    1975-11-13

    The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

  1. Differential diagnosis of Jakob-Creutzfeldt disease.

    Science.gov (United States)

    Paterson, Ross W; Torres-Chae, Charles C; Kuo, Amy L; Ando, Tim; Nguyen, Elizabeth A; Wong, Katherine; DeArmond, Stephen J; Haman, Aissa; Garcia, Paul; Johnson, David Y; Miller, Bruce L; Geschwind, Michael D

    2012-12-01

    To identify the misdiagnoses of patients with sporadic Jakob-Creutzfeldt disease (sCJD) during the course of their disease and determine which medical specialties saw patients with sCJD prior to the correct diagnosis being made and at what point in the disease course a correct diagnosis was made. Retrospective medical record review. A specialty referral center of a tertiary academic medical center. One hundred sixty-three serial patients over a 5.5-year period who ultimately had pathologically proven sCJD. The study used the subset of 97 patients for whom we had adequate medical records. Other diagnoses considered in the differential diagnosis and types of medical specialties assessing patients with sCJD. Ninety-seven subjects' records were used in the final analysis. The most common disease categories of misdiagnosis were neurodegenerative, autoimmune/paraneoplastic, infectious, and toxic/metabolic disorders. The most common individual misdiagnoses were viral encephalitis, paraneoplastic disorder, depression, vertigo, Alzheimer disease, stroke, unspecified dementia, central nervous system vasculitis, peripheral neuropathy, and Hashimoto encephalopathy. The physicians who most commonly made these misdiagnoses were primary care physicians and neurologists; in the 18% of patients who were diagnosed correctly at their first assessment, the diagnosis was almost always by a neurologist. The mean time from onset to diagnosis was 7.9 months, an average of two-thirds of the way through their disease course. Diagnosis of sCJD is quite delayed. When evaluating patients with rapidly progressive dementia with suspected neurodegenerative, autoimmune, infectious, or toxic/metabolic etiology, sCJD should also be included in the differential diagnosis, and appropriate diagnostic tests, such as diffusion brain magnetic resonance imaging, should be considered. Primary care physicians and neurologists need improved training in sCJD diagnosis.

  2. Prototype diagnosis of psychiatric syndromes

    Science.gov (United States)

    WESTEN, DREW

    2012-01-01

    The method of diagnosing patients used since the early 1980s in psychiatry, which involves evaluating each of several hundred symptoms for their presence or absence and then applying idiosyncratic rules for combining them for each of several hundred disorders, has led to great advances in research over the last 30 years. However, its problems have become increasingly apparent, particularly for clinical practice. An alternative approach, designed to maximize clinical utility, is prototype matching. Instead of counting symptoms of a disorder and determining whether they cross an arbitrary cutoff, the task of the diagnostician is to gauge the extent to which a patient’s clinical presentation matches a paragraph-length description of the disorder using a simple 5-point scale, from 1 (“little or no match”) to 5 (“very good match”). The result is both a dimensional diagnosis that captures the extent to which the patient “has” the disorder and a categorical diagnosis, with ratings of 4 and 5 corresponding to presence of the disorder and a rating of 3 indicating “subthreshold” or “clinically significant features”. The disorders and criteria woven into the prototypes can be identified empirically, so that the prototypes are both scientifically grounded and clinically useful. Prototype diagnosis has a number of advantages: it better captures the way humans naturally classify novel and complex stimuli; is clinically helpful, reliable, and easy to use in everyday practice; facilitates both dimensional and categorical diagnosis and dramatically reduces the number of categories required for classification; allows for clinically richer, empirically derived, and culturally relevant classification; reduces the gap between research criteria and clinical knowledge, by allowing clinicians in training to learn a small set of standardized prototypes and to develop richer mental representations of the disorders over time through clinical experience; and can help

  3. Diagnosis and Management of Iridocorneal Endothelial Syndrome

    Science.gov (United States)

    Sacchetti, Marta; Mantelli, Flavio; Macchi, Ilaria; Ambrosio, Oriella; Rama, Paolo

    2015-01-01

    The iridocorneal endothelial (ICE) syndrome is a rare ocular disorder that includes a group of conditions characterized by structural and proliferative abnormalities of the corneal endothelium, the anterior chamber angle, and the iris. Common clinical features include corneal edema, secondary glaucoma, iris atrophy, and pupillary anomalies, ranging from distortion to polycoria. The main subtypes of this syndrome are the progressive iris atrophy, the Cogan-Reese syndrome, and the Chandler syndrome. ICE syndrome is usually diagnosed in women in the adult age. Clinical history and complete eye examination including tonometry and gonioscopy are necessary to reach a diagnosis. Imaging techniques, such as in vivo confocal microscopy and ultrasound biomicroscopy, are used to confirm the diagnosis by revealing the presence of “ICE-cells” on the corneal endothelium and the structural changes of the anterior chamber angle. An early diagnosis is helpful to better manage the most challenging complications such as secondary glaucoma and corneal edema. Treatment of ICE-related glaucoma often requires glaucoma filtering surgery with antifibrotic agents and the use of glaucoma drainage implants should be considered early in the management of these patients. Visual impairment and pain associated with corneal edema can be successfully managed with endothelial keratoplasty. PMID:26451377

  4. Prenatal diagnosis of amniotic band syndrome

    Directory of Open Access Journals (Sweden)

    Laxmi Devi Padmanabhan

    2016-01-01

    Full Text Available Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period.

  5. Chronic fatigue syndrome: diagnosis and treatment | Revelas ...

    African Journals Online (AJOL)

    Chronic fatigue syndrome (CFS) refers to marked and prolonged fatigue, for which no indentifiable cause can be found. Despite the presence of extensive symptoms, diagnosis is made when there is profound fatigue, lasting for a duration of six months, or longer. CFS is frequently seen in association with psychiatric ...

  6. Phocomelia: Case report and differential diagnosis.

    Science.gov (United States)

    Osadsky, Captain Rasto

    2011-01-01

    While rarely seen in the present-day Western world, phocomelia is not uncommon in underdeveloped countries. Phocomelia is an abnormality in which the limbs are not fully formed. It may be inherited as an autosomal recessive or dominant disorder. This case concerns a 12-year-old Afghan boy with multiple skeletal anomalies, most prominently of his right arm, including aplasia of the entire proximal humerus, hypoplasia of the clavicle and scapula, and absence of the radial ray and thumb. A hypoplastic left thumb was also present. Other anomalies included thoracic scoliosis, upper thoracic hemivertebrae, and mild cardiomegaly. The differential diagnosis and likely diagnosis are discussed.

  7. Labaratory capacity of differential anemia diagnosis

    Directory of Open Access Journals (Sweden)

    L. M. Meshсheryakova

    2015-06-01

    Full Text Available The paper presents the laboratory values by which modern differential diagnosis of anemias can be performed. This takes into account a widerange of laboratory tests, including: serum ferritin, erythrocyte ferritin, serum iron, total serum iron binding capacity, iron transferrin saturation,transferrin, transferrin receptor, serum vitamin B12, erythrocyte vitamin B12, serum folate, erythrocyte folate, hepsidin, HIF-1 (hypoxiainducible factor-1, immunoglobulins on erythrocytes end others. The combination of these studies helps to accurate diagnosis and appropriate therapy.

  8. Labaratory capacity of differential anemia diagnosis

    Directory of Open Access Journals (Sweden)

    L. M. Meshсheryakova

    2015-01-01

    Full Text Available The paper presents the laboratory values by which modern differential diagnosis of anemias can be performed. This takes into account a widerange of laboratory tests, including: serum ferritin, erythrocyte ferritin, serum iron, total serum iron binding capacity, iron transferrin saturation,transferrin, transferrin receptor, serum vitamin B12, erythrocyte vitamin B12, serum folate, erythrocyte folate, hepsidin, HIF-1 (hypoxiainducible factor-1, immunoglobulins on erythrocytes end others. The combination of these studies helps to accurate diagnosis and appropriate therapy.

  9. Marfan syndrome: clinical diagnosis and management.

    Science.gov (United States)

    Dean, John C S

    2007-07-01

    Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic. The penetrance of some features is age dependent, so the nosology must be used with caution in children. Molecular testing may be helpful in this context. The nosology cannot be used in families with isolated aortic dissection, or with related conditions such as Loeys-Dietz syndrome, although it may help identify families for further diagnostic evaluation because they do not fulfill the nosology, despite a history of aneurysm. Prophylactic medical (eg beta-blockade) and surgical intervention is important in reducing the cardiovascular complications of Marfan syndrome. Musculoskeletal symptoms are common, although the pathophysiology is less clear--for example, the correlation between dural ectasia and back pain is uncertain. Symptoms in other systems require specialist review such as ophthalmology assessment of refractive errors and ectopia lentis. Pregnancy is a time of increased cardiovascular risk for women with Marfan syndrome, particularly if the aortic root exceeds 4 cm at the start of pregnancy. High-intensity static exercise should be discouraged although low-moderate intensity dynamic exercise may be beneficial. The diagnosis and management of Marfan syndrome requires a multidisciplinary team approach, in view of its multisystem effects and phenotypic variability.

  10. Pitfalls in the diagnosis of carcinoid syndrome

    Directory of Open Access Journals (Sweden)

    Dorota Kaczmarska-Turek

    2016-06-01

    Full Text Available Background . Carcinoid syndrome (CS is a rare syndrome, most commonly associated with neuroendocrine neoplasms (NEN s of the small intestine. Carcinoid syndrome consists of diarrhea, vomiting, abdominal pain, cutaneous flushing, teleangiectasias, bronchoconstriction and increased perspiration. Diagnosis of carcinoid syndrome remains a challenge and it is often delayed. Objectives . The aim of this study was to characterize patients with CS and define the most sensitive, primary diagnostic tools for CS . Material and methods. 26 consecutive patients admitted to the Department because of carcinoid-like symptoms. Diagnosis of CS was based on clinical findings and laboratory data (levels of 5-hydroxyindoloacetic acid. Diagnosis of NEN was based on laboratory findings, imaging studies (US , CT , Gallium-68-DOTA TATE PET -CT and histopathological analysis. CS due to NEN was diagnosed in 16 subjects (NEN –CS . Results . The most common symptoms in non-NEN were increased perspiration, flushes and diarrhea. CgA was elevated (40%; n = 4 in this group. However, elevated levels of 5-HIAA and liver lesions were not presented. In the NEN –CS symptoms were reported more often: flush (93.7%; n = 15, diarrhea (87.5%; n = 14, abdominal pain and teleangiectasis (81.2%; n = 13. Elevated CgA and 5-HIAA were noted in 87.5% (n = 14 and 81.2% (n = 13 respectively. US and CT revealed liver metastases in all patients. The mean duration of symptoms before diagnosis was 28.6 months. Conclusions . The combination of several symptoms of carcinoid syndrome and liver lesion in easily available abdominal imaging (US and/or CT should prompt physicians to quick referral to centres specialized in the diagnosis and treatment of NEN.

  11. Differential diagnosis of calf pain by ultrasonography

    Directory of Open Access Journals (Sweden)

    Luciano Augusto Botter

    2008-03-01

    Full Text Available This paper aims to evaluate the recent and numerous applications of ultrasonography in the differential diagnosis of conditions that affect the popliteal fossa and lower limbs, resulting in calf pain. Popliteal cysts and their ruptures, aneurysms, hematomas, cellulitis, abscesses, soft tissue tumors and other fluid collections are easily identified by this technique. Moreover, post-trauma and inflammatory conditions affecting muscles and tendons, muscle necrosis, deep venous thrombosis and superficial thrombophlebitis are very well demonstrated by the ultrasonographic screening.

  12. Differential diagnosis of recurrent bronchitis in children

    Directory of Open Access Journals (Sweden)

    I. I. Zakirov

    2016-01-01

    Full Text Available The interest of the doctors — pediatricians to recurrent bronchitis is caused by its high specific weight in the structure of bronchopulmonary pathology in children, the complexity and the need to search the differential selection of an individual regimen and prevention. Recurrent bronchitis with bronchoobstructive syndromes patient is regarded as a predictor of asthma, however, erroneously consider these nosological forms as the stages of a single pathophysiological chain as congenital and acquired diseases of respiratory system, pathology of gastro-intestinal tract, cardio-vascular system can masquerade as recurrent bronchitis. The aim of this work — to analyze the current medical literature on the problem of differential search causes leading recurrent respiratory syndrome in children. Materials and methods. The review publications domestic and foreign authors studied data from clinical and epidemiological studies. Results and its discussion. Anatomical physiological characteristics of the respiratory tract, complicated premorbid background, the re-infection of the child respiratory infection contribute to the recurrent course of bronchitis. The most common recurrent bronchitis is transient, recurrent bronchitis episodes completely stoped with the age of the child. Recurrent respiratory infections can fix bronchial hyperreactivity and with the presence of aggravated allergic history lead to the development of asthma. Severe bronchitis, resistance to standard scheme of therapy, the frequent recurrence of respiratory syndrome dictate the need to expand the diagnostic research to clarify the leading cause of recurrent bronchitis. Conclusion. Recurrent bronchitis is considered as a separate nosological form. At the same time, by repeated episodes of respiratory infection may be masked by malformations, hereditary diseases of respiratory system, bronchus foreign body microaspiration syndrome, pathology of the cardio-vascular system. 

  13. CT diagnosis and differential diagnosis of malignant pleural mesothelioma

    International Nuclear Information System (INIS)

    Xiong Juxin; Yang Zenian; Luo Zhongyao

    2008-01-01

    Objective: To study the CT features of malignant pleural mesothelioma and improve diagnostic accuracy. Methods: The CT findings of 14 patients with malignant pleural mesothelioma proven by surgery or histopathology were analyzed retrospectively. CT plain scan was performed in all cases, 9 cases received both CT plain scan and contrast CT scan. Results: All the cases demonstrated various pleural thickening including diffuse pleural thickening (n=10). Among all the cases, there were nodular pleural thickening (n=4), lumpy pleural thickening (n=7), ring-like pleural thickening (n=3). Pleural thickness which was more than 1.0 cm was found in 12 cases. Pleural effusion (n=10), mediastinum immobilization (n=10) and thoracic cavity stricture in the trouble side (n=10) were also revealed. Conclusion: Obvious characteristics in cases with malignant pleural mesothelioma was showed in CT examination, which plays an important role in the diagnosis and differential diagnosis of this disease. (authors)

  14. Syndrome Diagnosis: Human Intuition or Machine Intelligence?

    Science.gov (United States)

    Braaten, Øivind; Friestad, Johannes

    2008-01-01

    The aim of this study was to investigate whether artificial intelligence methods can represent objective methods that are essential in syndrome diagnosis. Most syndromes have no external criterion standard of diagnosis. The predictive value of a clinical sign used in diagnosis is dependent on the prior probability of the syndrome diagnosis. Clinicians often misjudge the probabilities involved. Syndromology needs objective methods to ensure diagnostic consistency, and take prior probabilities into account. We applied two basic artificial intelligence methods to a database of machine-generated patients - a ‘vector method’ and a set method. As reference methods we ran an ID3 algorithm, a cluster analysis and a naive Bayes’ calculation on the same patient series. The overall diagnostic error rate for the the vector algorithm was 0.93%, and for the ID3 0.97%. For the clinical signs found by the set method, the predictive values varied between 0.71 and 1.0. The artificial intelligence methods that we used, proved simple, robust and powerful, and represent objective diagnostic methods. PMID:19415142

  15. Diagnosis and Treatment of Polycystic Ovary Syndrome.

    Science.gov (United States)

    Williams, Tracy; Mortada, Rami; Porter, Samuel

    2016-07-15

    Polycystic ovary syndrome is the most common endocrinopathy among reproductive-aged women in the United States, affecting approximately 7% of female patients. Although the pathophysiology of the syndrome is complex and there is no single defect from which it is known to result, it is hypothesized that insulin resistance is a key factor. Metabolic syndrome is twice as common in patients with polycystic ovary syndrome compared with the general population, and patients with polycystic ovary syndrome are four times more likely than the general population to develop type 2 diabetes mellitus. Patient presentation is variable, ranging from asymptomatic to having multiple gynecologic, dermatologic, or metabolic manifestations. Guidelines from the Endocrine Society recommend using the Rotterdam criteria for diagnosis, which mandate the presence of two of the following three findings- hyperandrogenism, ovulatory dysfunction, and polycystic ovaries-plus the exclusion of other diagnoses that could result in hyperandrogenism or ovulatory dysfunction. It is reasonable to delay evaluation for polycystic ovary syndrome in adolescent patients until two years after menarche. For this age group, it is also recommended that all three Rotterdam criteria be met before the diagnosis is made. Patients who have marked virilization or rapid onset of symptoms require immediate evaluation for a potential androgen-secreting tumor. Treatment of polycystic ovary syndrome is individualized based on the patient's presentation and desire for pregnancy. For patients who are overweight, weight loss is recommended. Clomiphene and letrozole are first-line medications for infertility. Metformin is the first-line medication for metabolic manifestations, such as hyperglycemia. Hormonal contraceptives are first-line therapy for irregular menses and dermatologic manifestations.

  16. Diagnosis of adolescent polycystic ovary syndrome.

    Science.gov (United States)

    Hardy, Tristan S E; Norman, Robert J

    2013-08-01

    Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of reproductive age and is increasingly recognized as a disorder manifesting in the peripubertal and adolescent period. Diagnosis in the adolescent is difficult due to the high background rate of menstrual irregularity, the high prevalence of polycystic ovarian morphology and hyperandrogenic features in this population. Recent guidelines suggest that menstrual irregularity for over two years, reduced reliance on ultrasound diagnosis of polycystic ovarian morphology, and accurate assessment of hyperandrogenic and metabolic features are suitable strategies for the diagnosis of PCOS in the adolescent. Accurate diagnosis is important given the long-term implications of the disorder, with increasing emphasis on metabolic sequelae. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. On the Problem of Differential Diagnosis of Inflammatory and Functional Bowel Diseases

    Directory of Open Access Journals (Sweden)

    I.Ya. Budzak

    2013-04-01

    Full Text Available The paper describes the problems of differential diagnosis of inflammatory (ulcerative colitis, Crohn’s disease and functional (irritable bowel syndrome disease of the intestine. The necessity of such differential diagnosis in certain categories of patients was noted. The possibilities of instrumental and laboratory methods of study are shown. Particular attention is paid to the definition of fecal tests — calprotectin and lactoferrin. An analysis of the studies of their information content has been carried out.

  18. Addenbrooke's Cognitive Examination (ACE) for the diagnosis and differential diagnosis of dementia.

    Science.gov (United States)

    Larner, A J

    2007-07-01

    The Addenbrooke's Cognitive Examination (ACE) is reported to be a highly sensitive and specific "bedside" test for the diagnosis of dementia, but large pragmatic studies of its use in day-to-day clinical practice are lacking. This study measured diagnostic accuracy of ACE in a large cohort of consecutive patients referred to a dedicated Cognitive Function Clinic. Consecutive new referrals over a 3.5-year period were administered the ACE (n=285). ACE scores and subscores (VLOM ratio) were compared to clinical diagnoses of dementia and dementia subtype, established on the basis of widely accepted diagnostic criteria and at least 12-month follow-up. ACE had good sensitivity, specificity, and positive predictive value for the diagnosis of dementia, with excellent diagnostic accuracy as measured by area under the receiver operating characteristic curve. However, a lower cutoff than that used in the index paper was required for optimum test sensitivity and specificity. ACE VLOM ratio subscore for the differential diagnosis of Alzheimer's disease and frontotemporal dementia proved less accurate. This study suggests that ACE is useful for the diagnosis of dementia in routine clinical practice but that other instruments may be required for the differential diagnosis of the dementia syndrome.

  19. [Burnout syndrome: diagnosis, principles of treatment, prophylaxis].

    Science.gov (United States)

    Ovchinnikov, Yu V; Palchenkova, M V; Kalachev, O V

    2015-07-01

    Burnout syndrome is a socio-psychological phenomenon of emotional, motivational, and physical exhaustion as a result of chronic occupational stress. It is manifested as long-term emotional exhaustion, depersonalization and diminished personal and professional achievements. Burnout syndrome is common among health care workers, 'due to their high dedication, empathy for suffering patients, and decision-making related to life and health of patients. Personal, role and organizational factors influence on development of burnout. The clinical picture of burnout is multifactorial and can be described as a set of psychosomatic and somatic disorders, symptoms of social dysfunction. Diversity and non-specific symptoms of burnout syndrome determine the need for an interdisciplinary approach to its diagnosis. The leading role in solving problems related to stress and emotional burnout plays psychotherapy. The paper presents diagnostic criteria, risk factors, and methods of prevention and treatment of emotional burnout.

  20. Preimplantation genetic diagnosis for Down syndrome pregnancy

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yu; XU Chen-ming; ZHU Yi-min; DONG Min-yue; QIAN Yu-li; JIN Fan; HUANG He-feng

    2007-01-01

    Objective: To evaluate the effect of preimplantation genetic diagnosis (PGD) conducted for women who had Down syndrome pregnancy previously. Methods: Trisomy 21 was diagnosed by using fluorescence in site hybridization (FISH) before embryo transfer in two women who had Down syndrome pregnancies. Each received one or two PGD cycles respectively. Results:Case 1: one PGD cycle was conducted, two oocytes were fertilized and biopsied. One embryo is of trisomy 21 and the other of monosomy 21. No embryo was transferred. Case 2: two PGD cycles were conducted, in total, sixteen oocytes were fertilized and biopsied. Four embryos were tested to be normal, six of trisomy 21, and one of monosomy 21. Five had no signal. Four normal embryos were transferred but no pregnancy resulted. Conclusion: For couples who had pregnancies with Down syndrome previously, PGD can be considered, and has been shown to be an effective strategy.

  1. Cushing's syndrome: Stepwise approach to diagnosis

    OpenAIRE

    Lila, Anurag R.; Sarathi, Vijaya; Jagtap, Varsha S.; Bandgar, Tushar; Menon, Padmavathy; Shah, Nalini S.

    2011-01-01

    The projected prevalence of Cushing′s syndrome (CS) inclusive of subclinical cases in the adult population ranges from 0.2-2% and it may no longer be considered as an orphan disease (2-3 cases/million/year). The recognition of CS by physicians is important for early diagnosis and treatment. Late-night salivary cortisol, dexamethasone suppressiontesti, or 24-h urine free cortisol are good screening tests. Positively screened cases need stepwise evaluation by an endocrinologist. This paper disc...

  2. Radiological diagnosis and differential diagnosis of headache; Radiologische Diagnostik und Differenzialdiagnostik bei Kopfschmerzen im Erwachsenenalter

    Energy Technology Data Exchange (ETDEWEB)

    Langner, S.; Kirsch, M. [University Medicine Greifswald (Germany). Inst. for Diagnostic Radiology and Neuroradiology

    2015-10-15

    Headache is very common and affects almost everyone at some point. It is one of the most common disorders that leads patients to see their physician. All different forms have the nociception via trigeminal nerve fibers in common. Beside the clinical course headaches are classified as either primary or secondary, with the latter having an identifiable structural or biochemical cause. Imaging has a low diagnostic yield in primary headache but play an important role in the differential diagnosis of secondary forms. An overview of different forms of secondary headache is given, outlining diagnostic procedures and the morphologic imaging features of each syndrome.

  3. Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome: differential diagnosis of septic arthritis by regular detection of exceedingly high synovial cell counts.

    Science.gov (United States)

    Löffler, W; Lohse, P; Weihmayr, T; Widenmayer, W

    2017-08-01

    Pyogenic arthritis, pyoderma gangrenosum and acne syndrome was diagnosed in a 42-year-old patient, after an unusual persistency of high synovial cell counts had been noticed. Clinical peculiarities and problems with diagnosing septic versus non-septic arthritis are discussed.

  4. Differential diagnosis of benign intrahepatic tumours

    International Nuclear Information System (INIS)

    Koenig, R.; Herter, M.; Deutsches Krebsforschungszentrum, Heidelberg

    1983-01-01

    Differential diagnosis of benign intrahepatic tumours can be very difficult despite numerous non-invasive diagnostic approaches, as is evident from two case reports presented here. The problem appears particularly intricate if two or more masses or space-occupying growths are present at the same time, the diagnostic aspects being different. In the first case, echinococcus alveolaris occurred simultaneously with a cavernous haemangioma and a focal nodular hyperplasia (FNH). In the second case, FNH as a pendulating tumour was combined with a second focus in the superior part of the liver. These two examples are used as basis for discussing various diagnostic approaches, such as sonography, computed tomography and scintiscanning. (orig.) [de

  5. Differential diagnosis of benign intrahepatic tumours

    Energy Technology Data Exchange (ETDEWEB)

    Koenig, R.; Herter, M.

    1983-01-01

    Differential diagnosis of benign intrahepatic tumours can be very difficult despite numerous non-invasive diagnostic approaches, as is evident from two case reports presented here. The problem appears particularly intricate if two or more masses or space-occupying growths are present at the same time, the diagnostic aspects being different. In the first case, echinococcus alveolaris occurred simultaneously with a cavernous haemangioma and a focal nodular hyperplasia (FNH). In the second case, FNH as a pendulating tumour was combined with a second focus in the superior part of the liver. These two examples are used as basis for discussing various diagnostic approaches, such as sonography, computed tomography and scintiscanning.

  6. Radiological possibilities in differential diagnosis of hypertension

    International Nuclear Information System (INIS)

    Hoetzinger, H.

    1982-01-01

    The radiological methods have their definite place within the pattern of differential diagnosis of hypertension. To detect renal hypertension, urography and radionuclide techniques with separate clearance are employed. Morphological proof of arterial stenoses is effected by means of angiography. Changes in the adrenal causing hypertension are covered by sonography and computerized tomography which are supplemented mainly by adrenal phlebography and selctive withdrawal of blood for hormonal determination. The chest x-ray film yields information on cardiac adaptation to enhanced pressure load. (orig.) [de

  7. Differential diagnosis of small solid pancreatic lesions

    DEFF Research Database (Denmark)

    Dietrich, Christoph Frank; Sahai, Anand Vasante; D'Onofrio, Mirko

    2016-01-01

    BACKGROUND AND AIMS: Pancreatic ductal adenocarcinoma (PDAC) is typically diagnosed at a late stage. Little is known about the incidental finding of early-stage PDAC. The aim of the current study was to determine the etiology of small solid pancreatic lesions (≤15 mm) to optimize clinical......-enhanced US allowed differential diagnosis of PDAC and non-PDAC in 189 of 219 patients (86%). CONCLUSIONS: Approximately 40% of patients with small solid pancreatic lesions had very early stage PDAC. Approximately 60% of small solid pancreatic lesions ≤15 mm are not PDAC and, therefore, do not require radical...

  8. The differential diagnosis of ritual abuse allegations.

    Science.gov (United States)

    Bernet, W; Chang, D K

    1997-01-01

    Because psychiatrists do not have a consistent way to classify and define the forms of child abuse that may be mistaken for ritual abuse, the objective of this paper is to create a comprehensive differential diagnosis of allegations of ritual abuse. The authors reviewed 60 articles, chapters, and books that contained allegations of ritual abuse or behaviors that might be mistaken for ritual abuse, that were made by patients or caretakers. This paper clarifies the behaviors that represent or may be mistaken for ritual abuse: Cult-based ritual abuse, pseudoritualistic abuse, activities by organized satanic groups, repetitive psychopathological abuse, sexual abuse by pedophiles, child pornography portraying ritual abuse, distorted memory, false memory, false report due to a severe mental disorder, pseudologia phantastica, adolescent behavior simulating ritual abuse, epidemic hysteria, deliberate lying, and hoaxes. The differential diagnosis of allegations of ritual abuse is important in both clinical and forensic psychiatry. In some cases, it will not be possible to tell whether a particular allegation is factual or what the underlying mental processes are. It is important to separate the role of the mental health professional as therapist from the role as an expert witness in court.

  9. Psoriasis: epidemiology, natural history, and differential diagnosis

    Directory of Open Access Journals (Sweden)

    Basko-Plluska JL

    2012-09-01

    Full Text Available Juliana L Basko-Plluska, Vesna Petronic-RosicDepartment of Medicine, Section of Dermatology, University of Chicago, Chicago, IL, USAAbstract: Psoriasis is a chronic, immune-mediated, inflammatory disease which affects primarily the skin and joints. It occurs worldwide, but its prevalence varies considerably between different regions of the world. Genetic susceptibility as well as environmental factors play an important role in determining the development and prognosis of psoriasis. Genome-wide association studies have identified many genetic loci as potential psoriasis susceptibility regions, including PSORS1 through PSORS7. Histocompatibility antigen (HLA studies have also identified several HLA antigens, with HLA-Cw6 being the most frequently associated antigen. Epidemiological studies identified several modifiable risk factors that may predispose individuals to developing psoriasis or exacerbate pre-existing disease. These include smoking, obesity, alcohol consumption, diet, infections, medications and stressful life events. The exact mechanism by which they trigger psoriasis remains to be elucidated; however, existing data suggest that they are linked through Th1-mediated immunological pathways. The natural history of psoriasis varies depending on the clinical subtype as well as special circumstances, including pregnancy and HIV infection. In general, psoriasis is a chronic disease with intermittent remissions and exacerbations. The differential diagnosis is vast and includes many other immune-mediated, inflammatory disorders.Keywords: psoriasis, epidemiology, natural history, differential diagnosis

  10. Chronic fatigue syndrome: aetiology, diagnosis and treatment

    Science.gov (United States)

    Avellaneda Fernández, Alfredo; Pérez Martín, Álvaro; Izquierdo Martínez, Maravillas; Arruti Bustillo, Mar; Barbado Hernández, Francisco Javier; de la Cruz Labrado, Javier; Díaz-Delgado Peñas, Rafael; Gutiérrez Rivas, Eduardo; Palacín Delgado, Cecilia; Rivera Redondo, Javier; Ramón Giménez, José Ramón

    2009-01-01

    Chronic fatigue syndrome is characterised by intense fatigue, with duration of over six months and associated to other related symptoms. The latter include asthenia and easily induced tiredness that is not recovered after a night's sleep. The fatigue becomes so severe that it forces a 50% reduction in daily activities. Given its unknown aetiology, different hypotheses have been considered to explain the origin of the condition (from immunological disorders to the presence of post-traumatic oxidative stress), although there are no conclusive diagnostic tests. Diagnosis is established through the exclusion of other diseases causing fatigue. This syndrome is rare in childhood and adolescence, although the fatigue symptom per se is quite common in paediatric patients. Currently, no curative treatment exists for patients with chronic fatigue syndrome. The therapeutic approach to this syndrome requires a combination of different therapeutic modalities. The specific characteristics of the symptomatology of patients with chronic fatigue require a rapid adaptation of the educational, healthcare and social systems to prevent the problems derived from current systems. Such patients require multidisciplinary management due to the multiple and different issues affecting them. This document was realized by one of the Interdisciplinary Work Groups from the Institute for Rare Diseases, and its aim is to point out the main social and care needs for people affected with Chronic Fatigue Syndrome. For this, it includes not only the view of representatives for different scientific societies, but also the patient associations view, because they know the true history of their social and sanitary needs. In an interdisciplinary approach, this work also reviews the principal scientific, medical, socio-sanitary and psychological aspects of Chronic Fatigue Syndrome. PMID:19857242

  11. RELEVANCIA DEL DIAGNÓSTICO DIFERENCIAL ENTRE EL SÍNDROME AÓRTICO AGUDO Y EL SÍNDROME CORONARIO AGUDO EN PACIENTES CON DOLOR TORÁCICO Y CRISIS HIPERTENSIVA: REVISIÓN A PROPÓSITO DE 2 CASOS / Relevance of the differential diagnosis between acute aortic syndrome and acute coronary syndrome in patients with thoracic pain and hypertensive crisis: review on 2 case reports

    Directory of Open Access Journals (Sweden)

    Borja Simó Sánchez

    2011-11-01

    Full Text Available Acute aortic syndrome is a pathological process with low incidence compared with acute coronary syndrome, although with a worse prognosis in the short term, which is why its early diagnosis and urgent treatment are essential to the favorable evolution of thepatient. Electrocardiographic changes suggestive of myocardial ischemia, with acute evolution, are rare in acute aortic syndrome. Even in the presence of a suggestive thoracic pain and high levels of blood pressure, an adequate differential diagnosis is of utmost importance, since the administration of anticoagulation and antiplatelet therapy in high doses can have a dramatic impact on patient outcome. Two cases are presented in which electrocardiographic changes determined the action to take in patients with acute aortic syndrome.

  12. Hepatorenal Syndrome: Aetiology, Diagnosis, and Treatment

    Directory of Open Access Journals (Sweden)

    G. Low

    2015-01-01

    Full Text Available Acute renal impairment is common in patients with chronic liver disease, occurring in approximately 19% of hospitalised patients with cirrhosis. A variety of types of renal impairment are recognised. The most important of these is the hepatorenal syndrome, a functional renal impairment due to circulatory and neurohormonal abnormalities that underpin cirrhosis. It is one of the most severe complications of cirrhosis with survival often measured in weeks to months. A variety of treatment options exist with early diagnosis and appropriate treatment providing the best hope for cure. This paper provides a comprehensive and up-to-date review of hepatorenal syndrome and lays out the topic according to the following sections: pathophysiology, historical developments, diagnostic criteria and limitations, epidemiology, precipitating factors, predictors, clinical and laboratory findings, prognosis, treatment options, prophylaxis, and conclusion.

  13. Cushing's syndrome: Stepwise approach to diagnosis

    Science.gov (United States)

    Lila, Anurag R.; Sarathi, Vijaya; Jagtap, Varsha S.; Bandgar, Tushar; Menon, Padmavathy; Shah, Nalini S.

    2011-01-01

    The projected prevalence of Cushing's syndrome (CS) inclusive of subclinical cases in the adult population ranges from 0.2–2% and it may no longer be considered as an orphan disease (2–3 cases/million/year). The recognition of CS by physicians is important for early diagnosis and treatment. Late-night salivary cortisol, dexamethasone suppressiontesti, or 24-h urine free cortisol are good screening tests. Positively screened cases need stepwise evaluation by an endocrinologist. This paper discusses the importance of screening for CS and suggests a stepwise diagnostic approach to a case of suspected hypercortisolism. PMID:22145134

  14. Differential diagnosis of gigantic pulmonary abscesses

    International Nuclear Information System (INIS)

    Vinner, M.G.; Khachatryan, M.A.; Abelyan, A.M.

    1985-01-01

    The paper is concerned with an analysis of the clinical X-ray picture in 100 patients with gigantic pulmonary abscesses (the diameter over 6 cm) and in 102 patients with retrostenotic abscesses in central lung cancer, gigantic peripheral cancer with disintegration, tuberculous infiltrate with dissociation, an echinococcal cyst with suppuration and rupture in the bronchus. The reliable clinical differential diagnostic symptoms were not revealed. The chief method of X-ray examination is tomography. In addition to examination of the gigantic focus of lesion in the lung, tomography of the major bronchi should be also performed. The difference between a gigantic pulmonary abscess and peripheral lung cancer is in the nature of the walls and contours; of particular importance is the symptom of nodularity and radiance of the outlines of the pathological shadow which is more distinctive in peripheral cancer. Correct diagnosis was established in 96.6% of the patients

  15. Differential diagnosis of neuromyelitis optica spectrum disorders

    Science.gov (United States)

    Kim, Sung-Min; Kim, Seong-Joon; Lee, Haeng Jin; Kuroda, Hiroshi; Palace, Jacqueline; Fujihara, Kazuo

    2017-01-01

    Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disorder of the central nervous system (CNS) mostly manifesting as optic neuritis and/or myelitis, which are frequently recurrent/bilateral or longitudinally extensive, respectively. As the autoantibody to aquaporin-4 (AQP4-Ab) can mediate the pathogenesis of NMOSD, testing for the AQP4-Ab in serum of patients can play a crucial role in diagnosing NMOSD. Nevertheless, the differential diagnosis of NMOSD in clinical practice is often challenging despite the phenotypical and serological characteristics of the disease because: (1) diverse diseases with autoimmune, vascular, infectious, or neoplastic etiologies can mimic these phenotypes of NMOSD; (2) patients with NMOSD may only have limited clinical manifestations, especially in their early disease stages; (3) test results for AQP4-Ab can be affected by several factors such as assay methods, serologic status, disease stages, or types of treatment; (4) some patients with NMOSD do not have AQP4-Ab; and (5) test results for the AQP4-Ab may not be readily available for the acute management of patients. Despite some similarity in their phenotypes, these NMOSD and NMOSD-mimics are distinct from each other in their pathogenesis, prognosis, and most importantly treatment. Understanding the detailed clinical, serological, radiological, and prognostic differences of these diseases will improve the proper management as well as diagnosis of patients. PMID:28670343

  16. Pitfalls in the diagnosis and management of Cushing's syndrome.

    Science.gov (United States)

    Bansal, Vivek; El Asmar, Nadine; Selman, Warren R; Arafah, Baha M

    2015-02-01

    Despite many recent advances, the management of patients with Cushing's disease continues to be challenging. Cushing's syndrome is a complex metabolic disorder that is a result of excess glucocorticoids. Excluding the exogenous causes, adrenocorticotropic hormone-secreting pituitary adenomas account for nearly 70% of all cases of Cushing's syndrome. The suspicion, diagnosis, and differential diagnosis require a logical systematic approach with attention paid to key details at each investigational step. A diagnosis of endogenous Cushing's syndrome is usually suspected in patients with clinical symptoms and confirmed by using multiple biochemical tests. Each of the biochemical tests used to establish the diagnosis has limitations that need to be considered for proper interpretation. Although some tests determine the total daily urinary excretion of cortisol, many others rely on measurements of serum cortisol at baseline and after stimulation (e.g., after corticotropin-releasing hormone) or suppression (e.g., dexamethasone) with agents that influence the hypothalamic-pituitary-adrenal axis. Other tests (e.g., measurements of late-night salivary cortisol concentration) rely on alterations in the diurnal rhythm of cortisol secretion. Because more than 90% of the cortisol in the circulation is protein bound, any alteration in the binding proteins (transcortin and albumin) will automatically influence the measured level and confound the interpretation of stimulation and suppression data, which are the basis for establishing the diagnosis of Cushing's syndrome. Although measuring late-night salivary cortisol seems to be an excellent initial test for hypercortisolism, it may be confounded by poor sampling methods and contamination. Measurements of 24-hour urinary free-cortisol excretion could be misleading in the presence of some pathological and physiological conditions. Dexamethasone suppression tests can be affected by illnesses that alter the absorption of the drug (e

  17. Differential diagnosis of neurodegenerative dementias with nuclear medicine methods

    International Nuclear Information System (INIS)

    Kluge, R.

    2015-01-01

    Full text: Neurodegenerative dementias (NDD) are characterized by insidious onset and gradual progression of cognitive dysfunction, initially relatively focal with respect to cognitive domains and brain regions involved. Nuclear medicine techniques help to clarify differential diagnoses of syndromes such as Alzheimer’s disease (AD), dementia with Lewy bodies (DlB), posterior cortical atrophy (PCA), logopenic primary progressive aphasia (PPA), agrammatic PPA, semantic dementia (SD), behavioral variant frontotemporal dementia (bvFTD) and progressive supranuclear palsy syndrome (PSPS). The process of pathologic changes in the brain may start decades before first clinical symptoms become evident. An early diagnosis already in the pre-clinical phase of the diseases will be of immense importance when expected effective therapeutic options have been introduced. NDDs are histopathologically characterized by accumulation of pathological proteins in the brain like beta amyloid or protein tau. While radiotracers for labeling of protein tau are in preclinical evaluation, different radiotracers labeling amyloid plaques ([11C]PIB, [18F]Florbetapir (Amyvid, Fa. EliLilly), [18F]Florbetaben (Neuraceq, Fa. Piramal), [18F]Flutemetamol (vVzamyl, Fa. Ge) have already been established in clinical use during the last years. In AD these tracers are intensively accumulated in the whole cortical brain. Even an early disease can be excluded in case of a negative amyloid PET. The method is, however, not highly specific since amyloid plaques may also be present in DlB (70 – 80%), FTD (30%) orlogopenicPPA (100%). Neuronal dysfunction goes along with decreased glucose consumption. Different diseases are characterized by different topographical zones of reduced [18F]FDG uptake. In AD the posterior cingular, temporopariatal and (later) frontal cortex are affected, in DlB the pattern is similar, including the occipital cortex, in FTD the frontal cortex is affected, in nonfluent PPA the

  18. Diagnosis of shoulder impingement syndrome; Diagnostik des Schulterimpingementsyndroms

    Energy Technology Data Exchange (ETDEWEB)

    Hodler, J. [Orthopaedische Universitaetsklinik Balgrist, Zuerich (Switzerland)

    1996-12-01

    This article reviews the pathogenesis and clinical and imaging findings in shoulder impingement syndrome. Different stages of impingement syndrome are described. Stage I relates to edema and hemorrhage of the supraspinatus tendon. Stage II is characterized by bursal inflammation and fibrosis, as well as tendinopathy. In stage III there is a tear of the rotator cuff. Clinical signs many overlap. Moreover, calcifying tendinitis, fractures and pain originating from the cervical spine may mimic shoulder impingement syndrome. Imaging is important for the exact diagnosis. Standard radiographs are the basis of imaging in shoulder impingement syndrome. They may demonstrate subchondral sclerosis of the major tuberosity, subacromial spurs, and form anomalies of the acromion. They are also important in the differential diagnosis of shoulder impingement syndrome and demonstrate calcifying tendinitis, fractures and neoplasm. Ultrasonography has found acceptance as a screening tool and even as a final diagnostic method by many authors. However, there is a high interobserver variability in the demonstration of rotator cuff tears. Its usefulness has therefore been questioned. MR imaging is probably the method of choice in the evaluation of the rotator cuff and surrounding structures. Several investigations have demonstrated that differentiation of early findings, such as tendinopathy versus partial tears, may be difficult with MR imaging. However, reproducibility for fullthickness tears appears to be higher than for sonography. Moreover, specificity appears to be superior to sonography. MR arthrography is not universally accepted. However, it allows for more exact differentiation of discrete findings and may be indicated in preoperative planning. Standard arthrography and CT have a limited role in the current assessment of the rotator cuff. (orig.) [Deutsch] Grundlage des Impingementsyndroms ist eine Kompression des Supraspinatus am akromioklavikularen Bogen vor allem bei Flexion

  19. Problem Oriented Differential Diagnosis of Tropical Diseases

    Science.gov (United States)

    1989-09-01

    glomerulonephritis. 13. Varicella ( chicken pox ): rare complication. II. Nephrotic syndrome A distinctive lesion associated with nephrotic syndrome in West...hypersensitivity reactions, Stevens-Johnson syndrome, toxic nephrosis, and hypoglycemia. Studies in Mexico have shown that bismuth subsalicylate tablets are...typhus fever 7 14 Murine typhus 14 26 Q fever 10 21 Rickettsial pox 3 14 Rocky mountain spotted fever 6 21 Scrub typhus 2 10 Tick-borne rickettsioses

  20. Preimplantation Genetic Diagnosis in Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    N. F. Vlahos

    2013-01-01

    Full Text Available Marfan syndrome (MFS is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (COH, in vitro fertilization (IVF combined with preimplantation genetic diagnosis (PGD, and a singleton pregnancy with positive fetal heart rate was revealed. At 34 weeks’ gestation she delivered vaginally a healthy premature male infant weighting 2440 gr. The patient remained asymptomatic during pregnancy, delivery, and 3 months postpartum. It is has to be mentioned that the availability of PGD is essential to prevent the transmission of disease to the next generation.

  1. The Differential Diagnosis of Two Cases of Chronic Periaortitis

    Directory of Open Access Journals (Sweden)

    Takao Kato

    2013-01-01

    Full Text Available The imaging features of chronic periaortitis resemble those of infected aneurysms. Two illustrative cases of chronic periaortitis, in which the etiologies were caused by IgG4-related disease, are presented. The first case involved a 68-year-old man who presented with vague discomfort in his lower abdomen. The second case was a 42-year-old man who presented with a fever of 38°C and persistent, vague chest discomfort. Both cases demonstrated an increased amount of connective tissue around the aorta in computed tomography images and low intensity in the T2-weighed sequence and high intensity in the diffusion-weighed sequence, suggesting the presence of inflammation, in the magnetic resonance imaging. Negative blood cultures, elevated IgG4 levels, and pathological findings confirmed the diagnosis as chronic periaortitis due to IgG4-related disease. This is a newly recognized syndrome of unknown etiology, characterized by a fibroinflammatory condition, tumefactive lesions, and a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells. Both cases were successfully treated with corticosteroids. Infected aneurysms need to be carefully differentiated from this syndrome in view of the similar imaging features.

  2. Polycystic ovarian syndrome: clinical and biological diagnosis.

    Science.gov (United States)

    Bachelot, Anne

    2016-12-01

    Polycystic ovary syndrome (PCOS) is the most common ovarian disorder associated with androgen excess in women, which justifies the growing interest of endocrinologists. This syndrome leads to clinical hyperandrogenism and/or a biological dysovulation and infertility. Its diagnosis is based on consensual diagnostic criteria, but which are likely to change in the near future with the rise of the interest of new markers such as AMH. Diagnostic tools of PCOS are also discussed, with emphasis on the laboratory evaluation of androgens and other potential biomarkers of ovarian and metabolic dysfunctions. The exact etiology of PCOS is unknown and is likely multifactorial. Many studies indicate that PCOS results from originally ovarian abnormalities. In some patients, secondary hyperinsulinemia with insulin resistance plays a role in the pathophysiology. In addition, the relevant impact of metabolic issues, specifically insulin resistance and obesity, on the pathogenesis of PCOS, and the susceptibility to develop earlier than expected glucose intolerance states, including type 2 diabetes, has supported the notion that these aspects should be considered when defining the PCOS phenotype and planning potential therapeutic strategies in an affected subject.

  3. Radiological diagnosis of visceral manifestations in Hippel-Lindau Syndrome

    International Nuclear Information System (INIS)

    Wittich, G.; Czembirek, H.; Fridrich, L.; Imhof, H.; Vienna Univ.

    1980-01-01

    The efficiency of radiological methods in the diagnosis of visceral manifestations of Hippel-Lindau Syndrome is discussed by means of a case report as well as by the results from studies of other authors. The importance of detecting small renal malignancies (often occurring bilaterally and multifocally in this disease) is stressed since benign (cystic, adenomatous, angiomatous) lesions of visceral organs are of minor clinical relevance. Pheochromocytomas, found in about 20% of cases, are primarily diagnosed clinically. The diagnostic goal of precise quantification of neoplastic renal tumors and of unequivocal differentiation between cystic and solid lesions appears to be achieved by the combination of computertomographic and pharmaco-angiographic techniques. A prerequisite for the alternative use of ultrasound is optimal imaging of all parts of renal parenchyma. (orig.) [de

  4. [Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis].

    Science.gov (United States)

    Rau, T T; Dawson, H; Hartmann, A; Rüschoff, J

    2017-05-01

    The pathologist can contribute to recognizing hereditary causes of colorectal cancer via morphology. By identifying so-called index patients, it is possible to take preventive measures in affected families. The precise definition of the clinical presentation and the histopathological phenotype help to narrow the spectrum of expected genetic alterations. Novelties within Lynch syndrome include the recognition of EPCAM as a fifth gene locus, as well as the newly defined Lynch-like syndrome with evidence of somatic mismatch repair (MMR) mutations. With regard to polyposis-associated syndromes, the spectrum of polyps, whether serrated, hamartomatous or classic adenoma, is of crucial importance. The resulting differential diagnosis includes (attenuated) familial adenomatous polyposis ([a]FAP), MUTYH-associated polyposis (MAP), polymerase proofreading-associated polyposis (PPAP), phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS), Peutz-Jeghers syndrome and juvenile polyposis, each with a specific genetic background.

  5. [On establishing comparative reference system for syndrome classification study from the thinking characteristics of syndrome differentiation dependent therapy].

    Science.gov (United States)

    Liu, Ping; Hu, Yi-yang; Ni, Li-qiang

    2006-05-01

    To create a comparative referential system for syndrome classification study by viewing from the thinking characteristics of TCM on syndrome differentiation dependent therapy (SDDT), through analyzing the thinking process of SDDT, and the basic features of disease, syndrome and prescription, combining the basic principles of modern evidence-based medicine and feasibility of establishing integrative disease-syndrome animal model. The practice of creating a comparative referential system based on clinical efficacy of prescription was discussed around syndrome pathogenesis and its relationship with disease and prescription, which was one of the important scientific problems in TCM syndrome study. The authors hold that, it may be one of the available approaches for the present study on integration of disease with syndrome by way of insisting on the thinking pathway of stressing the characteristics of TCM and intermerging with modern scientific design; on taking the efficacy of prescription as the comparative reference system to accumulate and improve unceasingly according to the TCM method of syndrome diagnosis inferred from effect of prescription with reverse thought (i.e., to differentiate syndrome from the effect of prescription), and thus build up the syndrome diagnostic standard on the solid clinical and scientific base.

  6. Autism Diagnosis and Screening: Factors to Consider in Differential Diagnosis

    Science.gov (United States)

    Matson, Johnny L.; Beighley, Jennifer; Turygin, Nicole

    2012-01-01

    There has been an exponential growth in assessment methods to diagnose disorders on the autism spectrum. Many reasons for this trend exist and include advancing knowledge on how to make a diagnosis, the heterogeneity of the spectrum, the realization that different methods may be needed based on age and intellectual disability. Other factors…

  7. Diagnosis of Ewing's sarcoma in the thoracic spine - problems in differential diagnosis

    International Nuclear Information System (INIS)

    Schaub, T.; Dittrich, H.M.; Gutjahr, P.; Antoniadis, A.; Wolff, P.

    1986-01-01

    Spinal Ewing's sarcomas are rare and cause problems in differential diagnosis. The radiologic, nuclear medicine and CT findings in two children with histologically proven Ewing's sarcoma are presented and problems in differential diagnosis discussed. Biopsy should be done early. (orig.) [de

  8. Differential diagnosis of Jakob-Creutzfeldt disease

    OpenAIRE

    Paterson, RW; Torres-Chae, CC; Kuo, AL; Ando, T; Nguyen, EA; Wong, K; DeArmond, SJ; Haman, A; Garcia, P; Johnson, DY; Miller, BL; Geschwind, MD

    2012-01-01

    Objectives: To identify the misdiagnoses of patients with sporadic Jakob-Creutzfeldt disease (sCJD) during the course of their disease and determine which medical specialties saw patients with sCJD prior to the correct diagnosis being made and at what point in the disease course a correct diagnosis was made. Design: Retrospective medical record review. Setting: A specialty referral center of a tertiary academic medical center. Participants: One hundred sixty-three serial patients over a 5.5-y...

  9. Greater trochanteric pain syndrome diagnosis and treatment.

    Science.gov (United States)

    Mallow, Michael; Nazarian, Levon N

    2014-05-01

    Lateral hip pain, or greater trochanteric pain syndrome, is a commonly seen condition; in this article, the relevant anatomy, epidemiology, and evaluation strategies of greater trochanteric pain syndrome are reviewed. Specific attention is focused on imaging of this syndrome and treatment techniques, including ultrasound-guided interventions. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Restless Legs Syndrome -- Self-Tests and Diagnosis

    Science.gov (United States)

    ... legs syndrome Diagnosis Talk to a board certified sleep medicine physician if you think you have restless legs ... He or she can refer you to a sleep medicine physician if necessary. The sleep physician may ask ...

  11. Diagnosis and management of Silver-Russell syndrome

    DEFF Research Database (Denmark)

    Wakeling, Emma L; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi

    2017-01-01

    This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born s...

  12. Tuberculous and brucellosis meningitis differential diagnosis

    DEFF Research Database (Denmark)

    Erdem, Hakan; Senbayrak, Seniha; Gencer, Serap

    2015-01-01

    BACKGROUND: The Thwaites and Lancet scoring systems have been used in the rapid diagnosis of tuberculous meningitis (TBM). However, brucellar meningoencephalitis (BME) has similar characteristics with TBM. The ultimate aim of this study is to infer data to see if BME should be included in the dif......BACKGROUND: The Thwaites and Lancet scoring systems have been used in the rapid diagnosis of tuberculous meningitis (TBM). However, brucellar meningoencephalitis (BME) has similar characteristics with TBM. The ultimate aim of this study is to infer data to see if BME should be included...

  13. Early diagnosis of Bardet-Biedl syndrome associated with obesity

    Directory of Open Access Journals (Sweden)

    2008-03-01

    Full Text Available One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus. At present there are quite rare syndromes associated with obesity: Prader-Willi syndrome, Bardet-Biedl, Alström. Bardet-Biedl syndrome, - a disease characterized by obesity central origin, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal dysfunction.

  14. 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.

  15. Interstitial cystitis/bladder pain syndrome: diagnosis and management.

    Science.gov (United States)

    Offiah, I; McMahon, S B; O'Reilly, B A

    2013-08-01

    The bladder pain syndrome (BPS) is a spectrum of urological symptoms characterised by bladder pain with typical cystoscopic features. Diagnosis and management of this syndrome may be difficult. There is no evidence-based management approach for the diagnosis or treatment of BPS. The objective of this study was to critically review and summarise the evidence relating to the diagnosis and treatment of the bladder pain syndrome. A review of published data on the diagnosis and treatment of the BPS was performed. Our search was limited to English-language articles, on the "diagnosis", and "management" or "treatment" of "interstitial cystitis" and the "bladder pain syndrome" in "humans." Frequency, urgency and pain on bladder filling are the most common symptoms of BPS. All urodynamic volumes are reduced in patients with BPS. Associated conditions include psychological distress, depression, history of sexual assault, irritable bowel syndrome and fibromyalgia. Cystoscopy remains the test for definitive diagnosis, with visualisation of haemorrhage on cystoreduction. A multidisciplinary treatment approach is essential in the management of this condition. Orally administered amitriptyline is an efficacious medical treatment for BPS. Intravesical hyaluronic acid and local anaesthetic, with/without hydrodistension are among new treatment strategies. Sacral or pudendal neuromodulation is effective, minimally invasive and safe. Surgery is reserved for refractory cases. There remains a paucity of evidence for the diagnosis and treatment of BPS. We encountered significant heterogeneity in the assessment of symptoms, duration of treatment and follow up of patients in our literature review.

  16. Differential diagnosis of focal pancreatitis and pancreatic cancer

    NARCIS (Netherlands)

    van Gulik, T. M.; Moojen, T. M.; van Geenen, R.; Rauws, E. A.; Obertop, H.; Gouma, D. J.

    1999-01-01

    The differentiation of focal, chronic pancreatitis (CP) and pancreatic cancer (PAC) poses a diagnostic dilemma. Both conditions may present with the same symptoms and signs. The complexity of differential diagnosis is enhanced because PAC is frequently associated with secondary inflammatory changes

  17. Wellen’s syndrome: Challenges in diagnosis

    OpenAIRE

    Abhishek Agarwal; Sony Vyas; Ravindra Kumar

    2015-01-01

    Wellen’s syndrome is a pre-infarction stage of coronary artery disease characterised by predefined clinical and electrocardiographic (ECG) criteria of a subgroup of patients with myocardial ischaemia. Early recognition and appropriate intervention of this syndrome carry significant diagnostic and prognostic value. We report this unusual syndrome in an elderly man who presented with recurrent angina and characteristic ECG changes as T-waves inversion in the precordial leads, especi...

  18. Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

    International Nuclear Information System (INIS)

    Storr, U.; Rupprecht, T.; Bornemann, A.; Ries, M.; Beinder, E.; Boewing, B.; Harms, D.

    1997-01-01

    Cogenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures using cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congential intracerebral teratoma is generally very poor. (orig.)

  19. Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Storr, U. [Landratsamt Neuburg-Schrobenhausen, Gesundheitsamt, Neuburg an der Donau (Germany)]|[Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Rupprecht, T. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Bornemann, A. [Inst. for General Pathology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Ries, M. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Beinder, E. [Dept. of Obstetrics and Gynecology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Boewing, B. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Harms, D. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany)

    1997-03-01

    Cogenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures using cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congential intracerebral teratoma is generally very poor. (orig.)

  20. Glioblastoma as differential diagnosis of autoimmune encephalitis.

    Science.gov (United States)

    Vogrig, Alberto; Joubert, Bastien; Ducray, Francois; Thomas, Laure; Izquierdo, Cristina; Decaestecker, Kévin; Martinaud, Olivier; Gerardin, Emmanuel; Grand, Sylvie; Honnorat, Jérome

    2018-03-01

    To identify the clinical and radiological features that should raise suspicion for the autoimmune encephalitis (AE)-like presentation of glioblastoma. This is an observational, retrospective case series of patients referred to the French National Reference Center on Paraneoplastic Neurological Diseases for suspected AE (possible, probable or definite, using the 2016 criteria) who later received a final diagnosis of glioblastoma according to 2016 WHO criteria. An extensive literature search was also conducted for similar existing cases. Between 2014 and 2016, 306 patients were referred to our center for suspected AE. Six of these patients (2%) later developed pathologically confirmed glioblastoma. Thirteen patients (9 male) were included for analysis (6 from the present series and 7 from the literature); median age was 63. Initially, a diagnosis of AE was clinically suspected based on: working memory deficits (77%), seizures (62%) (including status epilepticus in 23%), and psychiatric symptoms (46%). Initial brain MRI was not in favor of a typical glioblastoma pattern and showed bilateral (54%) or unilateral selective limbic involvement. Five patients exhibited initial slight contrast enhancement. A clear inflammatory CSF was present in five patients and three from the literature showed autoantibody positivity (NMDAR, VGKC, GluRepsilon2). Median delay between suspicions of AE to GBM diagnosis was 3 months (range 1.5-24) and one patient from the literature was diagnosed post-mortem. An alternative diagnosis of glioblastoma should be considered in patients presenting initially as AE, especially in patients who do not fulfill the criteria for definite AE and in those with a poor clinical evolution despite initial improvement.

  1. Magnetic resonance imaging diagnosis of Herlyn-Werner-Wunderlich syndrome

    Directory of Open Access Journals (Sweden)

    Taruna Yadav

    2017-01-01

    Full Text Available Herlyn-Werner-Wunderlich syndrome (HWW is a triad of didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis. It is a combined anomaly of Mullerian and mesonephric ducts. It usually presents in adolescent females after menarche with nonspecific symptoms of pelvic pain, dysmenorrhea, and rarely a palpable pelvic mass. We report here, a case of an 18-year-old female presenting with complaints of lower abdominal pain and dysmenorrhea where magnetic resonance imaging (MRI confirmed the diagnosis of HWW syndrome. MRI is the imaging modality of choice for diagnosis of HWW syndrome and associated complications such as endometriosis.

  2. [ERG diagnosis and differential diagnosis: results of examination over 6 years].

    Science.gov (United States)

    Stemeyer, G; Stähli, P

    1996-05-01

    This study reviews the patient material first from the point of view of referral diagnosis. Secondly, we focus on difficulties in selective differential diagnoses. 1501 patients underwent electroretinographic (ERG) testing from 1989 to 1994, amounting to 1815 ERG recordings, including follow-up examinations. The technique applied is full-field, single flash ERG with selective stimulation of the rod- and of the cone-systems. In 3.8% (57 cases) the ERG was performed under general anesthesia in outpatients. Tapetoretinal degenerations, toxic retinal side effects, inflammatory disease and ocular trauma represented, in this order, the major groups of referral diagnoses aside from unclear visual loss. The documentation or the exclusion of tapetoretinal degeneration represented the largest share (57%) of the application of the diagnostic procedure. 171 cases of isolated retinitis pigmentosa (RP) and 33 cases of syndromic RP were identified. Frequent and rare diagnostic entities and their differential diagnoses within this group are discussed. Inevitably, a number of diagnostic decisions remain problematic, in particular at the first examination. These diagnostic difficulties are addressed also and include the differentiation between RP sine pigmento and congenital amaurosis Leber in infants, RP with macular involvement vs. cone-rod degeneration, unilateral RP vs. postinflammatory conditions, and progressive cone dystrophy vs. achromatopsia, cone-rod degeneration or Stargardt's disease. Frequent and meaningful indications for ERG recording and difficult diagnostic decisions arise from this review of a relatively large group of patients. A number of diagnoses can hardly, if not at all be established without ERG testing. These include retinal cause of visual loss in infants, congenital amaurosis Leber, RP sine pigmento, early stages of RP, carrier status in XL RP and in choroideremia, progressive cone dystrophy, toxic retinopathy without fundus changes, retinal involvement

  3. Prenatal diagnosis of Down syndrome: A 13-year retrospective study

    Directory of Open Access Journals (Sweden)

    Ana Vičić

    2017-12-01

    Conclusion: In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling.

  4. [Differential diagnosis of chronic myeloic leucemia in infancy (author's transl)].

    Science.gov (United States)

    Binder, C; Pichler, E; Radaskiewicz, T; Scheibenreiter, S

    1976-01-01

    A 3 months old girl presented with significant enlargement of liver, spleen and lymphnodes, with moderate anemia, thrombopenia and leucocytosis. In the differential count there was a shift to the left and an increase of monocyte-like cells (35%). Differential diagnosis included leucemoid reaction, infectious mononucleosis, myelo-proliferative disorder with a missing C chromosome and chronic myeloid leucemia. Clinical symptoms, cytochemistry and caryotype of bone marrow cells suggested infantile chronic myeloic leucemia and normal ALP index and possibly normal HbF. Treatment with 6-mercaptopurine was followed by partial remission. The therapeutic consequences of exact differential diagnosis are discussed.

  5. Specific phobias in older adults: characteristics and differential diagnosis.

    Science.gov (United States)

    Coelho, Carlos M; Gonçalves, Daniela C; Purkis, Helena; Pocinho, Margarida; Pachana, Nancy A; Byrne, Gerard J

    2010-08-01

    Differential diagnosis implies identifying shared and divergent characteristics between clinical states. Clinical work with older adults demands not only the knowledge of nosological features associated with differential diagnosis, but also recognition of idiosyncratic factors associated with this population. Several factors can interfere with an accurate diagnosis of specific phobia in older cohorts. The goal of this paper is to review criteria for specific phobia and its differential diagnosis with panic disorder, agoraphobia, post-traumatic stress disorder and obsessive compulsive disorder, while stressing the specific factors associated with aging. A literature search regarding specific phobia in older adults was carried out using PubMed. Relevant articles were selected and scanned for further pertinent references. In addition, relevant references related to differential diagnosis and assessment were used. Etiologic factors, specificity of feared stimulus or situation, fear predictability and the nature of phobic situations are key points to be assessed when implementing a differential diagnosis of specific phobia. First, age-related sensory impairments are common and interfere both with information processing and communication. Second, medical illnesses create symptoms that might cause, interfere with, or mimic anxiety. Third, cohort effects might result in underreporting, through the inability to communicate or recognize anxiety symptoms, misattributing them to physical conditions. Finally, diagnostic criteria and screening instruments were usually developed using younger samples and are therefore not adapted to the functional and behavioral characteristics of older samples.

  6. Radiological differential diagnosis in chronic aspiration pneumonia

    International Nuclear Information System (INIS)

    Hannig, C.; Wuttge-Hannig, A.; Hoermann, M.; Herrmann, I.F.; Neurologische Klinik Muenchen Tristanstrasse; Wuerzburg Univ.

    1989-01-01

    6% of all patients suffering from a cerebro-vascular injury die from aspiration pneumonia within the first year. The high temporal resolution of high-speed cineradiography (HFK) (50 frames/sec.) allows the recording of the 0.7 sec. process of pharyngeal swallow. Five case-examples are presented (total number of cases: 95) illustrating the possibility of differentiation between three types of aspiration by means of cineradiography. These types are the so-called pre-, intra- and postdeglutitive aspiration, that is aspiration before or after triggering of the swallowing reflex. This differentiation is of great therapeutic importance. The analysis of disturbances of pharyngo-laryngeal motility and the temporal coordination allows setting up individual surgical and/or conservative programme for rehabilitation. (orig.) [de

  7. 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 ...

  8. Prevalence, incidence, and age at diagnosis in Marfan Syndrome

    DEFF Research Database (Denmark)

    Groth, Kristian A; Hove, Hanne; Kyhl, Kasper

    2015-01-01

    Background: Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria...... have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan syndrome. Method: Using unique Danish patient-registries, we identified all possible Marfan syndrome patients recorded by the Danish healthcare system (1977......-2014). Following, we confirmed or rejected the diagnosis according to the 2010 revised Ghent nosology. Results: We identified a total of 1628 persons with possible Marfan syndrome. We confirmed the diagnosis in 412, whereof 46 were deceased, yielding a maximum prevalence of 6.5/100,000 at the end of 2014...

  9. Developing a semantic web model for medical differential diagnosis recommendation.

    Science.gov (United States)

    Mohammed, Osama; Benlamri, Rachid

    2014-10-01

    In this paper we describe a novel model for differential diagnosis designed to make recommendations by utilizing semantic web technologies. The model is a response to a number of requirements, ranging from incorporating essential clinical diagnostic semantics to the integration of data mining for the process of identifying candidate diseases that best explain a set of clinical features. We introduce two major components, which we find essential to the construction of an integral differential diagnosis recommendation model: the evidence-based recommender component and the proximity-based recommender component. Both approaches are driven by disease diagnosis ontologies designed specifically to enable the process of generating diagnostic recommendations. These ontologies are the disease symptom ontology and the patient ontology. The evidence-based diagnosis process develops dynamic rules based on standardized clinical pathways. The proximity-based component employs data mining to provide clinicians with diagnosis predictions, as well as generates new diagnosis rules from provided training datasets. This article describes the integration between these two components along with the developed diagnosis ontologies to form a novel medical differential diagnosis recommendation model. This article also provides test cases from the implementation of the overall model, which shows quite promising diagnostic recommendation results.

  10. MSCT diagnosis and differential diagnosis of hepatic focal nodular hyperplasia

    International Nuclear Information System (INIS)

    Zhang Haitao; Xu Qinsha; Chen Yutang; Song Yupiao

    2011-01-01

    Objective: To evaluate the MSCT findings of focal nodular hyperplasia (FNH) of the liver, and to improve the diagnostic standard. Methods: The MSCT findings were analyzed retrospectively in 25 patients pathologically approved with FNH. All patients underwent 16 detector row spiral CT scanning with and without contrast enhancement. Results: 28 lesions were discovered by CT, with single lesion showed in 22 cases, 2 lesions showed in 3 cases. All lesions showed a solitary nodules or lobulated mass in the liver. On plain CT, FNH showed equal or slightly low density. In the arterial phase, 27 lesions were vigorously and homogeneously enhanced, except the central scars with CT value of 99∼149HU and the mean CT-number of 124 HU. 1 lesion ws enhanced inter-homogeneously. Tortuous and enlarged arteries were seen at the center or periphery in 8 of the 28 lesions. In the portal venous phase, 16 lesions remained slightly hyperdense, 8 lesions turned to isodense, and 1 lesion turned to slightly hypodense. The typical central scar was showed in 8 lesions and 2 lesions showed delayed enhancement. 21 cases were correctly diagnosed by MSCT, with the diagnostic accuracy of 84.0%. Conclusion: MSCT scanning can fully show the pathologic and the blood supplying characteristics of FNH. The typical FNH can be easily diagnosed by CT, while the atypical cases should be differentiated from hepatocellular carcinoma, hemangioma of liver, liver cell adenoma and fibrolamellar hepatocarcinoma. (authors)

  11. Infectious spondylitis and its differential diagnosis

    International Nuclear Information System (INIS)

    Erlemann, Rainer

    2012-01-01

    Infectious spondylitis can be diagnosed early and reliably by MRI, given that the most important diagnostic criteria are present. These criteria are bone marrow edema adjacent to two contiguous vertebral end plates, disk space of high signal intensity and enhancement of bone adjacent to two contiguous vertebral end plates and of the disk space. If not all of these criteria are present, diagnostic accuracy decreases. Erosive osteochondritis, spondylarthritis, osteoporotic fractures of two contiguous vertebral end plates, active Schmorl's nodes as well as neuropathic spine may mimic an infectious spondylitis. This paper presents typical and atypical morphologic patterns of infectious spondylitis as well as the differentiation criteria from the above mentioned diseases. (orig.)

  12. Polycystic Ovary Syndrome - diagnosis and treatment

    OpenAIRE

    Hussain, Amna

    2015-01-01

    Abstract: Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder, and a major cause of infertility in women. An excessive amount of androgen hormones are produced by polycystic ovaries in PCOS with irregular menstruation and anovulation as result. The most common early symptoms are infertility, hirsutism and acne. Type 2 diabetes mellitus, metabolic syndrome, and possibly cardiovascular disease and endometrial carcinoma are all associated as lifelong implications with t...

  13. Differential diagnosis for cognitive decline in elderly

    Directory of Open Access Journals (Sweden)

    Om Prakash

    2016-01-01

    Full Text Available Cognitive decline has a spectrum of presentations, which manifest from normality as part of senility to the established form of various neurodegenerative illnesses causing dementia. Understanding these various differential diagnoses is of great clinical significance as they have different management and interventional strategies. The neuropsychological deficits which are identified should follow known neuropathological disease patterns that helps in distinguishing different types of cognitive impairment to established dementia. It is important to look at different cognitive impairment in elderly with core diagnostic sense to define severity, type of cognitive impairments, identifying patients need for accommodation or adaptation, associated risks, effectiveness of therapies and predict mortality. This would help clinicians to identify and plan management based on individual needs in cases with variable cognitive impairment.

  14. Roentgenological differential diagnosis of the psoas contour

    International Nuclear Information System (INIS)

    Voran, G.; Pfab, R.; Hess, F.

    1984-01-01

    The assessment of the psoas border contour in the X-ray photo of the abdomen is important for differential diagnostic considerations. For the separation of fallacious psoas configurations which are similar to the well defined pathological form changes, a regular supine position of the patient was chosen, and the psoas examined without and with muscle tension. The whole visible psoas muscle system did not show any unilateral bulging of the border silhouette during muscle action. Isolated tension of the left psoas muscle induced a distinct deviation of both border contours to the left side, too. There was a clear tendency of a more distinct psoas border contour and of augmented opacity of the muscle over its whole length under muscle tension. Changes similar to the bulging border contour of a psoas abscess were not produced by muscular action. (orig.) [de

  15. Prevalence, incidence, and age at diagnosis in Marfan Syndrome.

    Science.gov (United States)

    Groth, Kristian A; Hove, Hanne; Kyhl, Kasper; Folkestad, Lars; Gaustadnes, Mette; Vejlstrup, Niels; Stochholm, Kirstine; Østergaard, John R; Andersen, Niels H; Gravholt, Claus H

    2015-12-02

    Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan syndrome. Using unique Danish patient-registries, we identified all possible Marfan syndrome patients recorded by the Danish healthcare system (1977-2014). Following, we confirmed or rejected the diagnosis according to the 2010 revised Ghent nosology. We identified a total of 1628 persons with possible Marfan syndrome. We confirmed the diagnosis in 412, whereof 46 were deceased, yielding a maximum prevalence of 6.5/100,000 at the end of 2014. The annual median incidence was 0.19/100,000 (range: 0.0-0.7) which increased significantly with an incidence rate ratio of 1.03 (95% CI: 1.02-1.04, p Marfan syndrome during the study period is possibly due to build-up of a registry. Since early diagnosis is essential in preventing aortic events, diagnosing Marfan syndrome remains a task for both pediatricians and physicians caring for adults.

  16. First Report of Preoperative Imaging Diagnosis of a Surgically Confirmed Case of Valentino′s Syndrome

    Directory of Open Access Journals (Sweden)

    Parag Suresh Mahajan

    2014-01-01

    Full Text Available Perforation of a duodenal ulcer (DU into the retroperitoneal space presenting with clinical features of acute appendicitis is known as Valentino′s syndrome. Post duodenal perforation, the gastric and duodenal fluids tend to settle in the right paracolic gutter causing peritonitis and clinically mimicking acute appendicitis. Only three cases of Valentino′s syndrome have been reported till date in the published literature and there is only one previous report of its preoperative imaging diagnosis. To our knowledge, this is the first reported case of preoperative imaging diagnosis in a surgically confirmed case of Valentino′s syndrome. In most cases, patients with undiagnosed Valentino′s syndrome are operated for acute appendicitis, and on finding a normal appendix, search is made for the cause of peritonitis, which then leads to retroperitoneal perforation of duodenum. The diagnosis of Valentino′s syndrome by computed tomography (CT imaging is easy and can help in avoiding the surgery or directing the surgeon directly to the repair of the duodenal perforation. It is, therefore, essential for emergency physicians, surgeons, and radiologists to know about this entity and consider it in the differential diagnosis.

  17. Differential diagnosis of adrenal gland masses

    International Nuclear Information System (INIS)

    Szolar, D.H.M.; Unger, B.; Preidler, K.; Ranner, G.; Heinz-Peer, G.

    1999-01-01

    Computed tomography (CT) and magnetic resonance (MR) imaging are first line modalities in the evaluation of patients with adrenal gland masses, and have the potential to be very accurate for the localization of adrenal gland masses in patients with diseases associated with hyperfunctioning conditions of the adrenal gland. Both CT and MR imaging allow a specific diagnosis of acute adrenal hemorrhage, adrenal myelolipoma, and adrenal cysts. CT is also helpful in the assessment of patients with Addision's disease, particularly the subacute from secondary to granulomatous diseases. Quantitative evaluation of adrenal masses on unenhanced CT scans and/or qualitative analysis on chemical-shift MR imaging have been shown to be accurate in distinguishing adrenal adenomas from non-adenomas. Attenuation of 11 HE or less on unenhanced CT scans and/or signal loss on opposed phase MR images indicate adenoma with a high specificity and acceptable sensitivity. More recently, delayed-enhanced CT has yielded higher sensitivity and specificity values in distinguishing between adrenal adenomas and non-adenomas than both unenhanced CT and chemical-shift MR imaging do. On delayed-enhanced CT scans, adrenal adenomas exhibit a greater washout of contrast material than do adrenal non-adenomas. Therefore, adrenal non-adenomas have significantly higher attenuation than adenomas on delayed-enhanced CT scans obtained at several arbitrarily chosen time points (3-60 min) after the initiation of contrast material administration. (orig.) [de

  18. FETOMATERNAL HAEMORRHAGE – DIFFERENTIAL DIAGNOSIS – CASE REPORT

    Directory of Open Access Journals (Sweden)

    Jadranka Domazet-Fink

    2002-07-01

    Full Text Available Background. There are several different causes for fetomaternal haemorrhage. Sinusoidal pattern, which is relatively characteristic for fetal anaemia, may in its final stages completely disappear. Differential diagnosis of silent trace of cardiotocogram with late decelerations is quite difficult to solve.Case report. A case of unusual injury of a pregnant woman is described. The injury led to fetomaternal haemorrhage. Typical sinusoidal pattern cardiotocogram was not seen and the differential diagnosis was hard to determine. Because of prompt intervention and efficient postnatal therapy the child and mother are both well. The dilemmas in regards to differential diagnosis are being discussed.Conclusions. It is important to be very careful in history taking even if the situation is urgent. If there is no explanation for pathological cardiotocogram, decision must be made according to pregnant woman’s wishes. Kleihauer-Betke test, which is easy to perform and gives much information, is described.

  19. [Case with difficulty in differentiating between transient neuroleptic malignant syndrome and catatonia after neuroleptic analgesia].

    Science.gov (United States)

    Yanagawa, Youichi; Miyazaki, Masaki

    2010-02-01

    An 18-year-old woman was treated with neuroleptic analgesia using fentanyl, morphine, droperidol and haloperidol for general anesthesia and pain control for her knee operation. Postoperatively, she showed emotional unstableness, following dyspnea, tachycardia, fever, hyperhydrosis, muscle rigidity and myoclonus like involuntary movement. She received infusion of 140 mg dantrolene in total under suspicion of having neuroleptic malignant syndrome, but her symptoms improved slightly. After being transferred to our hospital, she exhibited immobility, mutism, rigidity, and catalepsy, and she was suspected of having lethal catatonia. Infusion of diazepam 10 mg resulted in dramatical improvement of her symptoms. Differential diagnosis between neuroleptic malignant syndrome and catatonia is difficult; however, a first line therapy is differential diagnosis. Thus, physician should consider catatonia when treating neuroleptic malignant like syndrome.

  20. Equilibrium disorders in elderly: diagnostic classification and differential diagnosis

    Directory of Open Access Journals (Sweden)

    Alessandro Castiglione

    2013-04-01

    Full Text Available Background: Balance is primarily related to the proper functioning of three sensory input: vestibular, visual and proprioceptive. The integration of these different afferences contributes to the proper attitude of the body in static and dynamic conditions. Equilibrium disorders are common among elderly patients and are responsible for falls and fractures, leading sometimes to catastrophic outcomes, representing a serious health and social problem. Approximately one third of elderly patients at home and about 50% of institutionalized, over 75 year-old, suffer from this particular condition, with at least one fall a year and almost 50% of these with recurrent episodes. Females are more affected than males. Attempts to ascertain the underlying cause of unbalance should be done, leading then to specific treatment. Nevertheless, many elderly patients do not have a single disease but rather a multitude of medical conditions which may cause dizziness, imbalance and vertigo: effects of ageing, drugs, cardiovascular and neurological disorders, ocular and orthopaedic diseases. Aim of the study: A literature review was carried out with the intention to offer practical and useful notions for the management and treatment of equilibrium disorders. Discussion: In clinical practice, the main challenge is to distinguish between peripheral and central imbalance disorders. The data collected from history and clinical exams should be integrated with the intent to include the patient in one of the following clinical conditions: vertiginous syndrome, pre-syncope and/or syncope, neurological diseases, other conditions.Conclusions: Following the differential diagnosis, treatment mainly consists in drug administration (antiemetic and vestibular suppressor drugs and vestibular rehabilitation (physiotherapy and vestibular exercises.

  1. Beals syndrome (congenital contractural arachnodactyly in children: Clinical symptoms, diagnosis, treatment, and prevention

    Directory of Open Access Journals (Sweden)

    A. N. Semyachkina

    2016-01-01

    Full Text Available The paper deals with a rare monogenic connective tissue disease from a group of fibrillinopathies with autosomal dominant inheritance — Beals syndrome caused by a mutation in the FBN2 gene. Attention is drawn to the high phenotypic similarity of this disease and Marfan syndrome (FBN1 gene mutation, which is associated with the almost complete identity of two proteins: fibrillin 1 and fibrillin 2.The paper describes a clinical case of a child with Beals syndrome and the typical manifestations of the disease: asthenic constitution, arachnodactyly of the hands and feet, congenital contractures of the large and small joints, chest deformity, kyphoscoliosis, talpes, and crushed ears. The investigators made a differential diagnosis with other connective tissue diseases, such as Marfan syndrome, Stickler syndrome, Ehlers–Danlos syndrome, homocystenuria, and arthrogryposis. DNA diagnosis verified the Beals syndrome in the proband. Exon 28 in the FBN2 gene showed the previously undescribed missense mutation of c.3719G>A, resulting in the amino acid substitution of cysteine for tyrosine (p.Cys1240Tyr in the structure of the protein fibrillin 2. A de novo mutation occurred. There is evidence for its pathogenicity in the development of the clinical symptoms of the disease. The problems of effective medical genetic counseling in this family are discussed. 

  2. The differential diagnosis of children with joint hypermobility: a review of the literature

    Directory of Open Access Journals (Sweden)

    Elliott Elizabeth J

    2009-01-01

    Full Text Available Abstract Background In this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related symptoms. Methods We searched Medline for papers with an emphasis on the diagnosis of joint hypermobility, including Heritable Disorders of Connective Tissue (HDCT. Results 3330 papers were identified: 1534 pertained to instability of a particular joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330 related to joint hypermobility. There are inconsistencies in the literature on joint hypermobility and how it relates to and overlaps with milder forms of HDCT. There is no reliable method of differentiating between Joint Hypermobility Syndrome, familial articular hypermobility and Ehlers-Danlos syndrome (hypermobile type, suggesting these three disorders may be different manifestations of the same spectrum of disorders. We describe our approach to children presenting with joint hypermobility and the published evidence and expert opinion on which this is based. Conclusion There is value in identifying both the underlying genetic cause of joint hypermobility in an individual child and those hypermobile children who have symptoms such as pain and fatigue and might benefit from multidisciplinary rehabilitation management. Every effort should be made to diagnose the underlying disorder responsible for joint hypermobility which may only become apparent over time. We recommend that the term "Joint Hypermobility Syndrome" is used for children with symptomatic joint hypermobility resulting from any underlying HDCT and that these children are best described using both the term Joint Hypermobility Syndrome and their HDCT diagnosis.

  3. Diagnosis and differential diagnosis of hydrocephalus in adults; Diagnostik und Differenzialdiagnostik des Hydrozephalus beim Erwachsenen

    Energy Technology Data Exchange (ETDEWEB)

    Langner, Soenke; Mensel, Birger; Kuehn, Jens Peter; Kirsch, Michael [Univ. Medicine Greifswald (Germany). Inst. for Diagnostic Radiology and Neuroradiology; Fleck, Steffen; Baldauf, Joerg [Univ. Medicine Greifswald (Germany). Dept. of Neurosurgery

    2017-08-15

    Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients.

  4. Wellen’s syndrome: Challenges in diagnosis

    Directory of Open Access Journals (Sweden)

    Abhishek Agarwal

    2015-07-01

    Full Text Available Wellen’s syndrome is a pre-infarction stage of coronary artery disease characterised by predefined clinical and electrocardiographic (ECG criteria of a subgroup of patients with myocardial ischaemia. Early recognition and appropriate intervention of this syndrome carry significant diagnostic and prognostic value. We report this unusual syndrome in an elderly man who presented with recurrent angina and characteristic ECG changes as T-waves inversion in the precordial leads, especially in V2–V6 during pain-free periods and ECG obtained during episodes of pain demonstrating upright T-waves with possible elevated ST segments from V1–V4. Cardiac enzymes were positive and coronary angiography revealed critical stenosis in the proximal left anterior descending artery. It is important to timely identify this condition and intervene appropriately as these patients may develop extensive myocardial infarction that carries a significant morbidity and mortality

  5. Optical diagnosis of interstitial cystitis / painful bladder syndrome

    Science.gov (United States)

    Shadgan, Babak; Macnab, Andrew; Stothers, Lynn

    2013-03-01

    Background: Painful bladder syndrome/interstitial cystitis (PBS/IC) is defined as a syndrome of urgency, frequency, and suprapubic pain in the absence of positive urine culture or obvious bladder pathology. As no specific etiology has been identified yet, no specific methodology exists for diagnosis of this condition. One potential etiology of PBS/IC is inflammation of the bladder mucosa associated with abnormal angiogenesis and ulcerative lesions. The purpose of this study was to examine the feasibility of using transcutaneous near infrared spectroscopy (NIRS) of the bladder to monitor tissue oxygenation and hemodynamics as a means of differentiating subjects diagnosed with PBS/IC from those with other bladder conditions. Methods: Twenty-four adult patients with lower urinary tract dysfunction were divided into 2 groups, PBS/IC and non-PBS/IC after standard diagnostic investigations. Detrusor oxygen saturation percentage (TSI%) was measured in all subjects while they were at rest in a supine position, using a spatially resolved (SR) NIRS instrument. Mean values of detrusor TSI% were significantly different between the two groups (74.2%+/-4.9 in PBS/IC vs. 63.6%+/-5.5 in non-PBS/IC, P<0.0005). Results: Noninvasive NIRS interrogation of the bladder demonstrated that patients diagnosed as having PBS/IC had significantly higher detrusor oxygen saturation at rest. Conclusions: SR-NIRS as a feasible non-noninvasive entity for use in the evaluation of patients for the presence or absence of physiologic changes associated with PBS/IC.

  6. Carpal tunnel syndrome - Part I (anatomy, physiology, etiology and diagnosis,

    Directory of Open Access Journals (Sweden)

    Michel Chammas

    2014-10-01

    Full Text Available Carpal tunnel syndrome (CTS is defined by compression of the median nerve in the wrist. It is the commonest of the compressive syndromes and its most frequent cause is idiopathic. Even though spontaneous regression is possible, the general rule is that the symptoms will worsen. The diagnosis is primarily clinical, from the symptoms and provocative tests. Elec-troneuromyographic examination may be recommended before the operation or in cases of occupational illnesses.

  7. Exome Sequencing for cerebral palsies: Opening windows for differential diagnosis

    Directory of Open Access Journals (Sweden)

    D. Suresh Bhargav

    2017-10-01

    Full Text Available DNA sequencing technologies played a critical role in the last two decades in expanding our understanding of genetic spectrum behind neurodevelopmental disorders. Recently, induction MPS in the area of medical genetics provided chance for differential diagnosis and/or reverse phenotyping of cerebral palsies and many other developmental disorders. Here we present how ES through MPS has identified causative mutations and showed scope for further characterization of the neurodevelopmental disorders. Here we report and discuss four cases (5Y to 12Y who were diagnosed as CP with mild or moderate ID. Whole Exome libraries were constructed using Exome RDY panel and sequenced on Ion Proton. The reads generated were aligned to hg19 and variants were annotated and prioritized using Ion Reporter. In Cases-I & II a homozygous mutation in PMM2 gene (NM_000303.2, c.710C>T, p.THR237ARG and a novel nonsense mutation in gene SLC35A2 (NM_005660.2, c.1024C>T, p.Arg342Ter which are known to cause congenital disorder of glycosylation type Ia (MIM: 212065 and type IIm SOMATIC MOSAIC (MIM: 300896 were identified, respectively. In case-III (two male siblings ES identified a novel Frame Shift (FS mutation in APRATAXIN (APTX gene (NM_001195248.1, c.638delG, p.Arg213fs, rs150886026 which are known to cause ATAXIA-OCULOMOTOR APRAXIA 1; AOA1 (MIM: 208920. Brain imaging in Case-IV is suggestive of Joubert syndrome with hearing loss, we identified a missense mutation in AHI1 gene (NM_001134830.1, c.2023G>A, p.Asp675Asn and also a nonsense mutation in gene GJB2 (NM_004004.5, c.71G>A, p.Trp24Ter which explains the hearing impairment in the case. Mutations in cases and parent(s were confirmed on 3500 Genetic Analyzer revealed Autosomal recessive or X-linked dominant and somatic mosaicism pattern of inheritance. Reverse phenotyping was convincing for Case I & II.  Case III phenotype was delineated by the identification of responsible gene /mutation.  Complex phenotype of Case

  8. ICON: An artificial intelligence approach to radiologic differential diagnosis

    International Nuclear Information System (INIS)

    Swett, H.A.; Miller, P.L.

    1986-01-01

    ICON is a computer system, developed using artificial intelligence techniques, that is designed to help radiologists manage the large body of knowledge needed to perform differential diagnosis in radiology. The system's domain is lung disease in patients with lymphoproliferative disorders. The radiologist proposes a diagnostic hypothesis which he or she thinks explains the known clinical and chest radiographic findings. ICON responds with an English-language prose critique that discusses how and why the proposed diagnosis is or is not supported by the clinical literature and suggests further findings or clinical information that might make the diagnosis more secure

  9. Hepatorenal syndrome: diagnosis, treatment and prevention

    DEFF Research Database (Denmark)

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

    2014-01-01

    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. Diagnosis, progression and intervention in Sjogren's syndrome

    NARCIS (Netherlands)

    Pijpe, Justin

    2006-01-01

    Sjögren’s syndrome (SS) is a chronic inflammatory and lymphoproliferative progressive autoimmune disease. It is characterized by B cell activation and infiltration of T and B cells in the exocrine glands. Common symptoms are related to diminished lacrimal and salivary gland function. Besides

  11. Value of ultrasonography in the differential diagnosis of appendicitis

    International Nuclear Information System (INIS)

    Alonso, J.M.; Sandoval, E.

    1998-01-01

    To determine the utility of ultrasound in the diagnosis of diseases that can be confused with appendicitis or presenting with atypical clinical signs of appendiceal inflammation. Graded-compression ultrasound was performed in 226 patients presenting with pain in right iliac fossa. Twenty-three patients were excluded because of inconclusive examination. Appendicitis was confirmed intraoperatively in 98 cases. There was no appendiceal inflammation in 105 patients. A final diagnosis could not be reached in 26 cases (4.7%) and was considered to represent abdominal pain of unknown origin. Ultrasound provided the correct diagnosis in 72 of the 79 patients in whom a definitive diagnosis was reached (91.1%). A wide spectrum of pathologies was identified by ultrasound, including gastrointestinal complaints (n=51), gynecological disorders (n=10), bioliopancreatic abnormalities (n=4), urological diseases (n=3) and others (n=3). Ultrasound is useful in the differential diagnosis of patients with confusing clinical signs of appendicitis. (Author) 34 refs

  12. The amniotic band syndrome: antenatal sonographic diagnosis and potential pitfalls.

    Science.gov (United States)

    Mahony, B S; Filly, R A; Callen, P W; Golbus, M S

    1985-05-01

    Amniotic band syndrome causes a variety of fetal malformations involving the limbs, craniofacial region, and trunk. Six prenatally diagnosed cases of amniotic band syndrome are discussed. The diagnosis was based on sonographic visualization of either amniotic sheets or bands associated with fetal deformation or deformities in nonembryologic distributions known to characterize the amniotic band syndrome. Seven additional cases are considered in which an aberrant sheet of tissue with a free edge was visualized within the amniotic cavity but no restriction of fetal motion or subsequent deformity was demonstrated.

  13. [Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

    Science.gov (United States)

    Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

    2009-01-01

    The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

  14. Delayed puberty and hypogonadotropic hypogonadism. Differential diagnosis and treatment

    NARCIS (Netherlands)

    Snoep, Marinus Cornelis

    1978-01-01

    This thesis describes a method enabling a prospecrive differential diagnosis to be made berween delayed puberty (DP) and hypogonadotropic hypogonadism (HH). The influence of androgen administration on the gonadal feedback sysrem of patients with delayed puberty was also studied. ... Zie: Summary

  15. Dementia and Depression: A Process Model for Differential Diagnosis.

    Science.gov (United States)

    Hill, Carrie L.; Spengler, Paul M.

    1997-01-01

    Delineates a process model for mental-health counselors to follow in formulating a differential diagnosis of dementia and depression in adults 65 years and older. The model is derived from empirical, theoretical, and clinical sources of evidence. Explores components of the clinical interview, of hypothesis formation, and of hypothesis testing.…

  16. Differential diagnosis of mesiotemporal lesions: case report of neurosyphilis

    International Nuclear Information System (INIS)

    Vieira Santos, A.; Matias, S.; Saraiva, P.; Goulao, A.

    2005-01-01

    We report a clinical and imaging case of suspected herpes simplex encephalitis subsequently diagnosed as neurosyphilis based on positive antibodies in the CSF. MRI of the brain showed cortical and subcortical lesions in the mesial temporal region, septal area, insula and cingulated gyrus of the right cerebral hemisphere. Neurosyphilis should be included in the differential diagnosis of mesial temporal region lesions on MRI. (orig.)

  17. The cutaneous radiation syndrome: diagnosis and treatment

    International Nuclear Information System (INIS)

    Peter, R.U.; Steinert, M.; Gottlober, P.

    2001-01-01

    Accidental exposure to ionising radiation may occur during such catastrophic events as the Chernobyl accident in 1986 or for days and weeks as in Goiania in 1987 and in the military camp during the training of soldiers in Lilo/Georgia in 1997 as well as in medical institutions. The cutaneous symptoms after radiation exposure are based on a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated pro-inflammatory cytokines and growth factors. They follow a time course consisting of prodromal erythema, manifestation, chronic stage, late stage and they are referred to as Cutaneous Radiation Syndrome. The time course depends on several factors such as the applied radiation dose, radiation quality, individual radiation sensitivity, the extent of contamination and absorption and volume of the skin. For diagnostics of the cutaneous radiation syndrome the following procedures are used: 7.5 MHz to 20 MHz-B-scan-sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy and histology. Based on the results of experimental and clinical research of the last years pharmacotherapy of the cutaneous radiation syndrome includes topic or systemic application of corticosteroids, gamma-interferon, pentoxifylline and vitamin E and superoxide dismutase. The treatment depends on the stage of the cutaneous radiation syndrome. Due to the complexity of the clinical manifestations of radiation disease in most patients an interdisciplinary treatment in specialized centres is necessary. Dermatologists are asked to perform in most cases life-long therapy and follow-up of the patients. (author)

  18. Polycystic Ovarian Syndrome: Diagnosis and Management

    OpenAIRE

    Sheehan, Michael T.

    2004-01-01

    Polycystic ovarian syndrome (PCOS) affects 4% to 12% of women of reproductive age. The lack of well-defined diagnostic criteria makes identification of this common disease confusing to many clinicians. Also, with the varied manifestations of the disorder a patient may present to any one of several providers: an internist, family practitioner, nurse practitioner, pediatrician, gynecologist, dermatologist, or endocrinologist. Furthermore, the most distressing aspect of PCOS for any given patien...

  19. DIFFERENTIAL DIAGNOSIS OF CUTANEOUS LEISHMANIAS IS AND PARACOCCIDIOIDOMYCOSIS: CASE REPORT

    Directory of Open Access Journals (Sweden)

    Thaísa da Silva Vieira

    2017-01-01

    Full Text Available The polymorphism of the clinical presentation of paracoccidioidomycosis allows it to be included in the differential diagnosis of various clinical conditions, including cutaneous leishmaniasis. This study aims to discuss the difficulty of establishing the differential diagnosis between paracoccidioidomycosis and american cutaneous leishmaniasis in the case of patients from rural areas with chronic ulcerative lesion in the oral and nasal mucosa. This is a case report of an adult patient, coming from rural Itagi, Bahia, admitted to the public Hospital Prado Valadares (HGPV, in Jequié-BA. Thus, the case report aims to contribute to the medical and scientific community in the description of the clinical aspects of the lesions for the early diagnosis and prevention of the impacts of disabilities and injuries

  20. [Differential diagnosis between borderline personality disorder and bipolar disorder].

    Science.gov (United States)

    Herbst, Luis

    2010-01-01

    The relationship between bipolar disorder and borderline personality disorder remains controversial since in both conditions there are overlapping and similar symptomatic dimensions. Symptomatic dimensions suitable to subserve differential diagnosis are: mood, mood variability mode, and personal and family history. Characteristics of psychotic symptoms may also be useful in the differentiation. On the other hand, anxiety symptoms, neuropsychological profiles, neuro-imaging procedures and biomarkers seem not to contribute to differentiate between both diseases. The presentation of nonsuicidal self mutilation behavior can offer some differences between bipolar and borderline personality disorders, but both can coexist in clinical comorbid forms and do not significantly contribute to the differential diagnosis. Differential diagnosis is complicated by the fact that a low percentage of patients can experience comorbidity of both conditions. In this work we review all these issues, and particularly emphasize the importance of sitematically take into account the patient background, the course that follows his or her disorder, together with the outcome in response to medical decisions.

  1. Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

    Science.gov (United States)

    Niederhoffer, Karen Y; Fahiminiya, Somayyeh; Eydoux, Patrice; Mawson, John; Nishimura, Gen; Jerome-Majewska, Loydie A; Patel, Millan S

    2016-09-01

    Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome), Schwartz-Jampel syndrome, Freeman-Sheldon syndrome, Cerebro-oculo-facio-skeletal syndrome, and Van den Ende-Gupta syndrome. We discuss this differential diagnosis in the context of a boy from a consanguineous union with Van den Ende-Gupta syndrome, a diagnosis initially confused by the atypical presence of intellectual disability. SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in SCARF2 and predicted damaging mutations in several genes, most notably DGCR2 (p.P75L) and NCAM2 (p.S147G), both possible candidates for this child's intellectual disability. We review distinguishing features for each Marden-Walker-like syndrome and propose a clinical algorithm for diagnosis among this spectrum of disorders. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Clinical and histopathological differential diagnosis of eosinophilic pustular folliculitis.

    Science.gov (United States)

    Fujiyama, Toshiharu; Tokura, Yoshiki

    2013-06-01

    Eosinophilic pustular folliculitis (EPF) is an inflammatory disease characterized by repeated pruritic follicular papules and pustules arranged in arcuate plaques, and folliculotropic infiltration of eosinophils. The diagnosis of EPF is occasionally difficult and problematic because EPF may share the clinical appearance and histological findings with other diseases. Moreover, EPF has several clinical subtypes, including the classical type, infantile type and immunosuppression-associated type. Because the therapies of EPF are relatively specific as compared to eczematous disorders, accurate diagnosis is essential for the management of EPF. Clinical differential diagnoses include tinea, acne, rosacea, eczematous dermatitis, granuloma faciale, autoimmune annular erythema, infestations and pustular dermatosis. Histologically, cutaneous diseases with eosinophilic infiltrates can be differentially diagnosed. Follicular mucinosis, mycosis fungoides and other cutaneous T-cell lymphomas are the most important differential diagnoses both clinically and histopathologically. It should be kept in mind particularly that the initial lesions of cutaneous T-cell lymphoma resemble EPF. © 2013 Japanese Dermatological Association.

  3. Modern representations about differential diagnosis of schizophrenia-like psychosis disorders due to psychoactive substance use

    Directory of Open Access Journals (Sweden)

    V. V. Chugunov

    2014-08-01

    Full Text Available In recent years in the world there is a tendency of quantity of persons who use drugs increase. Free availability of drugs of different groups for population is the main cause. Another trend associated with the consumption of drugs. All these factors led to the increased frequency of psychosis occurrence among consumers of psychoactive substances. In structure of such psychosis there are a variety of symptoms and syndromes. And since the number of drug users is quite broad in its structure - there are also persons with mental illness. This gives number of diagnostic difficulties. In this regard, the aim of the study was to trace the modern ideas of differential diagnosis of schizophrenia-like psychosis disorders due to the drug use. Materials and methods of research. In this work the content analysis of the modern representations of differential diagnosis of schizophrenia-like psychosis disorders as a result of the use of psychoactive substances was made. The problem of determination of primary and secondary nature of drug addiction in patients with psychotic disorders was indicated. Etiology and psychopathogenesis hypotheses of the addiction from psychoactive substances in the context of their correlation with endogenous mental pathology were defined. In the literature there is no clear diagnostic criteria that would allow distinguishing psychosis due to the use of drugs and endogenous psychosis, which is combined with the admission medicines. However, the attention of clinicians should be concentrated on the premorbid condition: the presence of hereditary family history, pathological behavior in childhood and adolescence. It was found that the majority of substances may cause one or more syndromes - delirium, dementia, and amnestic syndrome, delusional syndrome, hallucinatory syndrome, depressive syndrome, anxiety, and personality disorder, such disorders as schizophrenia-like psychosis disorders are not rare. Special attention was paid to the

  4. [Differential diagnosis and atypical subsets of amyotrophic lateral sclerosis].

    Science.gov (United States)

    Pradat, P-F; Bruneteau, G

    2006-06-01

    Amyotrophic lateral sclerosis (ALS) is a progressive degeneration of upper and lower motor neurons. In the absence of any validated biological marker, the diagnosis of ALS depends upon recognition of characteristic symptoms and signs together with supportive electrophysiological findings. The diagnosis of ALS is easy to recognize in its fully developed form but during the early stages both false positive and false negative diagnoses are common. In clinical practice, diagnostic difficulties mostly arise with patients who present either with only upper motor neuron, or with only lower motor neuron signs. It may be difficult to distinguish ALS with clinically predominant lower motor neuron involvement from alternative diagnoses including spinal atrophies of adult onset, Kennedy's disease, inclusion body myositis and motor neuropathies with conduction blocks. The diagnosis of ALS related syndromes (progressive muscular atrophy, primary lateral sclerosis and progressive bulbar palsy) requires the elimination of alternate diagnoses. This paper reviews the main characteristics of diseases mimicking ALS and the atypical subsets of ALS.

  5. Diagnosis and treatment of 409 patients with prostatitis syndromes

    NARCIS (Netherlands)

    de la Rosette, J. J.; Hubregtse, M. R.; Meuleman, E. J.; Stolk-Engelaar, M. V.; Debruyne, F. M.

    1993-01-01

    We reviewed 409 patients who had prostatitis syndromes during the period 1985-1991. Urine analysis, x-ray film of abdomen, and sonograms of the kidneys did not contribute to the diagnosis of prostatitis. In 22 percent of the urine samples, slight-to-moderate atypia was seen in urine cytology but no

  6. Acute Respiratory Distress Syndrome: Challenge for Diagnosis and Therapy

    Directory of Open Access Journals (Sweden)

    Chun Pan

    2018-01-01

    Conclusions: ARDS is a devastating clinical syndrome whose incidence and mortality has remained high over the past 50 years. Its definition and treatments are still confronted with challenges, and early recognition and intervention are crucial for improving the outcomes of ARDS. More clinical studies are needed to improve early diagnosis and appropriate therapy.

  7. Thoracic splenosis as a differential diagnosis of juxtapleural nodules

    Directory of Open Access Journals (Sweden)

    B. Lopes

    2014-01-01

    Full Text Available Thoracic splenosis is rare and consists of ectopic implantation of splenic tissue into the chest after concomitant thoracic and abdominal trauma with diaphragm injury. It occurs in about 18% of cases of splenic ruptures. In almost all cases, diagnosis is given incidentally once patients are usually asymptomatic. Thoracic splenosis should be considered as a differential diagnosis in all patients with history of trauma presenting with juxtapleural nodules in chest computed tomography. However, malignant conditions should be ruled out firstly. Biopsy is not essential for the diagnosis once nuclear medicine can confirm splenosis in patients with pertinent history of trauma and suggestive tomographic image. We present a typical case of thoracic splenosis whose diagnosis was made by nuclear medicine and no invasive procedures were required.

  8. Prenatal diagnosis of Caudal Regression Syndrome : a case report

    Directory of Open Access Journals (Sweden)

    Celikaslan Nurgul

    2001-12-01

    Full Text Available Abstract Background Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Case presentation We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. Conclusion Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.

  9. Hepatorenal syndrome: diagnosis, treatment and prevention

    DEFF Research Database (Denmark)

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

    2014-01-01

    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....

  10. CT on diagnosis and differential diagnosis of adrenal neuroblastoma from nephroblastoma in children

    International Nuclear Information System (INIS)

    Han Jingtian; Shen Guoqiang; Yang Huayuan

    2000-01-01

    Objective: To evaluate the effect of CT on diagnosis and differential diagnosis of children's adrenal neuroblastoma from nephroblastoma. Materials and Method: To analyse the CT manifestations on 36 cases of adrenal neuroblastoma and 32 cases of nephroblastoma both confirmed by postoperative pathologic diagnosis. Results: The adrenal neuroblastoma is a kind of extrarenal tumor, so the kidney kept its original form and showed some compressive features. The incidence of tumor calcification appeared mostly in rough and speckle-piece form was high. While the nephroblastoma is a renal tumor. The surrounding renal parenchyma showed a specific 'new-moon shape' intensification. Conclusion: CT is one of the most valuable and effective means of examination to diagnose adrenal neuroblastoma and differentiate it from nephroblastoma. It can provide important information for making correct diagnosis, planning proper therapy and assessing prognosis

  11. Differential diagnosis of tuberculous pleural effusion and malignant

    International Nuclear Information System (INIS)

    Na, Eui Sung; Kim, Young Nam; Lee, Mee Ran; Oh, Yu Whan; Kang, Eun Young

    1997-01-01

    The purpose of this study is to evaluate the diagnostic accuracy of CT in the differential diagnosis of tuberculous and malignant pleural effusion whether or not lung lesions are present, and to investigate the CT findings used for this differential diagnosis. This study involved 30 patients with tuberculous pleural effusion (mean age, 44.6 years; M : F = 19:11) and 20 with malignant pleural effusion (mean age, 57.2 years; M: F=10:10). All 50 patients underwent enhanced CT chest scans, and the respective conditions were pathologically confirmed. Two radiologists unaware of the pathologic results and distributions of patients reviewed these scans, CT findings of pleural effusions, their diagnoses, and the degree of confidence of their diagnoses. In most cases, CT provided correct differential diagnosis between tuberculous and malignant pleural effusion. It can help determine the nature of associated lung and pleural lesions, and specific findings of the latter, and can accurately differentiate tuberculous and malignant pleural effusion. (author). 20 refs., 3 tabs., 5 figs

  12. Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome.

    Science.gov (United States)

    Fakin, Ana; Zupan, Andrej; Glavač, Damjan; Hawlina, Marko

    2012-12-15

    Purpose of this study was to molecularly characterize a family in which two brothers (46 and 36 years) presented with a combination of retinitis pigmentosa (RP) and severe sensorineural hearing loss while father and sister (71 and 41 years) presented with isolated RP. Retinal phenotype was compared with phenotype of 17 patients with Usher syndrome type 1. Ophthalmological examination included assessment of Snellen visual acuity, color vision with Ishihara tables, Goldmann perimetry (targets II/1-4) and microperimetry. Fundus autofluorescence imaging and optical coherence tomography were performed. Direct sequencing of all coding exons and flanking intronic sequences of GJB2 (gap junction protein, beta 2) and PRPH2 (peripherin 2) genes was performed in younger brother. Other family members were analyzed with sequencing (GJB2), high resolution melt analysis (GJB2) or restriction enzymes (PRPH2). Brothers with hearing loss were found to carry a homozygous c.35 delG mutation in GJB2, the most common mutation associated with recessive hearing loss. All patients were found to carry a novel heterozygous mutation c.389T>C (p.Leu130Pro) on PRPH2. Age of onset was higher in PRPH2 than USH1 patients, however with some overlap. Differentiation from retinal phenotype of USH1 could only be made in the oldest patient, who retained good central visual function after more than three decades of disease. Copyright © 2012 Elsevier Ltd. All rights reserved.

  13. Early diagnosis of Gorlin-Goltz syndrome: case report.

    Science.gov (United States)

    Casaroto, Ana R; Loures, Daniela C N Rocha; Moreschi, Eduardo; Veltrini, Vanessa C; Trento, Cleverson L; Gottardo, Vilmar D; Lara, Vanessa S

    2011-01-25

    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 keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

  14. Early diagnosis of Gorlin-Goltz syndrome: case report

    Directory of Open Access Journals (Sweden)

    Trento Cleverson L

    2011-01-01

    Full Text Available Abstract 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 keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

  15. Nuclear imaging for the Cushing's syndrome etiological diagnosis

    International Nuclear Information System (INIS)

    Nocaudie, M.

    2000-01-01

    Etiologic diagnosing of a Cushing's syndrome relies upon the probabilities of the various causes of the pathologies. It takes advantage of the hormonal determinations to establish the mechanism of the hyper-secretion and of the radiological examination to detect morphological abnormalities. The scinti-scans are useful at this time only, to locate hyper-functioning tissue, to guide its resection and to suggest alternative option, either pharmaceutical or radio-metabolic. In the ACTH-independent Cushing's syndrome, noriodocholesterol scintigraphy can indicate that the adrenocortical hyper-functioning is unilateral or that it is bilateral. In the ACTH-dependent Cushing's syndrome, the current somatostatin radio-analogs have not proven their efficiency in pituitary ACTH-producing tumours but they are useful in the diagnosis and the management of bronchial carcinoids as of other neuro-endocrine tumors with the para-neoplastic Cushing's syndrome. (author)

  16. Diagnosis of Lynch Syndrome: Genetic Testing Identifies a Potentially Deadly Hereditary Disease

    Science.gov (United States)

    ... of Lynch Syndrome Follow us A Diagnosis of Lynch Syndrome Genetic testing identifies a potentially deadly hereditary disease ... helped Jack learn what was wrong. Jack had Lynch Syndrome—an inherited disorder. Lynch Syndrome increases the risk ...

  17. Differential diagnosis of scintigraphic brain centres by 75Se selenite

    International Nuclear Information System (INIS)

    Bestagno, M.; Garraffa, V.; Rembado, R.; Guerra, U.

    1975-01-01

    Since standard brain scintigraphy with sup(99m)Tc is not always adequate for a satisfactory differential diagnosis of the radioactive foci detected, the possibilities of 75 Se sodium selenite were investigated. It was observed that in centres due to a vascular lesion the selenite concentration is always low, rising steeply in neoplasmic foci. The 75 Se-selenite scintigraphic method is considered highly valid, complementing that of sup(99m)Tc when this latter is unsuitable for diagnosis of the nature of cerebral foci [fr

  18. The usefulness of SPECT and MRI in the diagnosis of atypical parkinsonian syndromes

    International Nuclear Information System (INIS)

    Skogseid, I.M.; Gerdts, R.; Nyberg-Hansen, R.; Rootwelt, K.; Bakke, S.J.

    2001-01-01

    Clinico-pathological studies have shown that only three out of four patients with parkinsonism have idiopathic Parkinson's disease. In patients with so-called Parkinson plus syndrome, the degeneration in the brain is more widespread and the variety of neurological signs greater than in Parkinson's disease. The differentiation of these syndromes from Parkinson's disease can be difficult. Single photon emission computed tomography (SPECT) and magnetic resonance imaging (MRl) can be of value in the differential diagnosis of parkinsonism. We present three patients with atypical parkinsonism in whom MRI and SPECT with β-CIT and epidepride was performed in addition to the clinical evaluation. The three patients all had a rapidly developing symmetric akinetic-rigid syndrome that responded poorly to levodopa. MRI showed findings regarded as typical for multiple system atrophy in two patients, but only nonspecific findings in the third patient. SPECT with β-CIT showed a pronounced bilateral and relatively symmetric reduction in the striatal dopaminergic activity in all patients. SPECT with epidepride showed a clearly reduced striatal D 2 -receptor binding bilaterally in only one of the patients. In patients with atypical parkinsonism, MRI and SPECT with β-CIT and epidepride can give valuable support to the clinical diagnosis of a Parkinson plus syndrome

  19. [Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports].

    Science.gov (United States)

    Nasser, Luciano Sólia; Paranaíba, Lívia Maris Ribeiro; Frota, Ana Cláudia; Gomes, Andreia; Versiani, Gisele; Martelli Júnior, Hercílio

    2012-10-01

    To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses were performed including the measurement of visual acuity, the presence of dystopia cantorum (telecanthus), evaluation of iris color and retinal mapping, as well as dermatological and otological examinations. The pedigree of the family affected by the Waardenburg syndrome type I showed an autosomal dominant mode of transmission. The syndrome was present at 85.71% of patients. The dystopia cantorum was the most frequent feature, followed by the white streak on the skin of the forehead, hypopigmentation of the iris and retina and deafness. The Waardenburg syndrome family type II had 33.33% of family members affected by the syndrome. No member had dystopia cantorum and hypopigmentation of the iris. Three patients had sensorineural hearing loss (12.5%), associated with white forelock and achromatic spots confluent by the body. This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as telecanthus, hypopigmentation of the iris and retina. The cantorum dystopia is the main diagnostic criterion to differentiate type I and II syndrome and should be done by a trained ophthalmologist. The families are in medical monitoring, receiving genetic guidelines and care related to eye protection.

  20. Giant arachnoid granulation: differential diagnosis of acute headache

    International Nuclear Information System (INIS)

    Peters, S.A.; Heyer, C.M.; Frombach, E.

    2007-01-01

    Full text: We present a case of intense, rapidly evolving headache clinically mimicking meningitis, subarachnoid haemorrhage or venous sinus thrombosis. Clinical examination, standard blood work and central nervous system studies were non-contributory and effectively ruled out these diagnoses. Cranial multidetector CT studies before and after application of intravenous contrast medium performed prior to lumbar tap disclosed a non-enhancing ovoid mass filling the superior sagittal sinus. This lesion posed a differential to venous sinus thrombosis, but ultimately fulfilled the criteria of a giant arachnoid granulation. The imaging characteristics and differential diagnosis of giant arachnoid granulations are discussed

  1. [DIFFERENTIAL DIAGNOSIS OF TUMOROID-LIKE ABSCESS AND LUNG CANCER].

    Science.gov (United States)

    Churylin, R

    2015-01-01

    The purpose of work is development and clarification of roentgenology displays of tumoroidea variant of abscess of lungs for differential diagnostics him with the cancer of lungs. Practically in most cases abscess of lungs there is a necessity of leadthrough of differential diagnostics with in a number of nosology forms, including with the cavernous form of peripheral cancer of lungs. The features of flow of roentgenologic picture of tumoroidea variant are resulted, alike symptoms, differ ences and signs which allow to set a correct diagnosis, are resulted, the value of follow-up of roent genologic research and use of computed tomography is underlined.

  2. Distant metastases in differentiated thyroid carcinoma: diagnosis and treatment

    International Nuclear Information System (INIS)

    Schmidt, A.; Cross, G.; Pitoia, F.

    2017-01-01

    Distant metastases occur in less than 10% of patients with differentiated thyroid carcinoma. In these patients, overall survival at 10 years is considerably reduced. Whereas cure is the initial goal of treatment, stabilisation of the disease and management of symptoms have become the primary objective in many patients with persistent radio-iodine refractory progressive disease. In the last decade, several targeted therapies have shown encouraging results in patients with advanced disease. The objective of this review is to describe the characteristics, diagnosis, overall survival, and the local and systemic available treatments for patients with distant metastases from differentiated thyroid cancer. (authors) [es

  3. Body imaging in the differential diagnosis of jaundice

    International Nuclear Information System (INIS)

    Kuno, Nobuyoshi; Endo, Tokiko; Kasugai, Tatsuzo

    1981-01-01

    Forty-five jaundiced patients with confirmed pancreatico-biliary diseases were studied to determine the value of body imaging in the differential diagnosis of jaundice. In this study, body imaging included five tests, which were US, CT, ERCP, PTC and RI. The results indicate that each to these five tests is useful and highly accurate in differentiating between obstructive and nonobstructive jaundice (about 90%). The site of obstruction was delineated in 91.3%, 90.9%, 82.5%, 66.7% and 50% by PTC, ERCP, CT, US and RI, respectively. ERCP, PTC, CT, US and RI helped determine the etiology of jaundice in 79.5%, 65.2%, 57.5%, 50% and 0%, respectively. ERCP and US were highly accurate in establishing the diagnosis of resectable pancreatico-biliary cancer with obstructive jaundice. On the basis of these results, we propose a diagnostic approach to obstructive jaundice as in Table 5. (author)

  4. Extramedullary plasmacytoma in the carotid space: Expanding the differential diagnosis

    International Nuclear Information System (INIS)

    Deshpande, Sneha Satish; Kane, Shubhada; Arya, Supreeta

    2014-01-01

    Plasma cell neoplasms have been classified into various types, with a range of clinical and radiological presentations. Extramedullary plasmacytoma (EMP) is a subset of plasma cell neoplasms which presents as an isolated non-osseous soft tissue mass. Though carotid space neoplasms are commonly encountered, EMP in the carotid space is rare and seldom considered in the initial differential diagnosis of a carotid space mass. These tumors can be treated by surgery or radiotherapy. On the other hand, the commonly encountered tumors in the carotid space are treated surgically. Also, it is mandatory to exclude multiple myeloma in the patients presenting with EMP. Hence, accurate and early diagnosis has therapeutic and prognostic implications. We report a rare case of EMP of the carotid space, describing the imaging features and the differential diagnoses with clues pointing to this rare entity

  5. Pathology and differential diagnosis of chronic, noninfectious gastritis.

    Science.gov (United States)

    Polydorides, Alexandros D

    2014-03-01

    The histologic finding of chronic inflammation in an endoscopic mucosal biopsy of the stomach (chronic gastritis) is very common and usually reflects the presence of Helicobacter pylori infection. However, infectious organisms are not always present in biopsy material, and some cases of chronic gastritis do not result from H. pylori infection. Thus, the differential diagnosis of this finding is an important one for pathologists to keep in mind. This review presents the three most common and clinically significant causes of chronic, noninfectious gastritis, namely, autoimmune atrophic gastritis, lymphocytic gastritis, and gastric involvement in the setting of inflammatory bowel disease, especially Crohn disease. For each entity, a brief discussion of its etiology and pathogenesis, a review of the clinical and endoscopic features, and a description of the microscopic findings are presented in the context of the differential diagnosis of chronic gastritis with emphasis on helpful histopathologic hints and long-term sequelae. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Infective endocarditis: the specific features of its course, the criteria for diagnosis, differential diagnosis (part II

    Directory of Open Access Journals (Sweden)

    B S Belov

    2008-01-01

    Full Text Available Infective endocarditis (IE is today characterized by polyetiology due to a wide range of pathogens. The paper describes the specific features of the clinical picture of the disease in relation to the etiological agent, which have, in some cases, a crucial role in the choice of empiric antibiotic therapy. Significant clinical polymorphism, obscure symptoms, and monosyndromic onset as guises all enhance the importance of the differential diagnosis of IE, at its early stages in particular. Basic approaches to differentiating IE from the diseases in which differentially diagnostic problems arise to the utmost are outlined.

  7. Pre-natal counselling and diagnosis in Down's syndrome.

    Science.gov (United States)

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  8. Catastrophic antiphospholipid syndrome in pregnancy, a diagnosis that should not be missed.

    Science.gov (United States)

    Hoayek, Jennifer G; Moussa, Hind N; Rehman, Hina A; Nasab, Susan Hosseini; Blackwell, Sean C; Sibai, Baha M

    2016-12-01

    Catastrophic antiphospholipid syndrome (CAPS) is an accelerated form of the antiphospholipid antibody syndrome resulting in multi-organ ischemia and failure. It is a rare and life-threatening condition that can be easily mistaken with hemolysis elevated liver enzymes low platelets syndrome, thrombotic thrombocytopenic purpura, and hemolytic uremic syndrome. In order to make a diagnosis, it is required to have multi-organ thrombosis over 1 week affecting at least three organs or systems, and to have positive antiphospholipid antibody on two occasions (6 weeks apart), and histopathologic confirmation of small vessel occlusion. However, due to similarities in clinical and laboratory findings between CAPS and some other obstetric complications, potential misdiagnosis or delay in diagnosis are common, increasing the risk of adverse maternal and perinatal outcomes. In this review we summarized information presented in previous studies, focusing on CAPS related to pregnancy. We reviewed diagnostic criteria, differential diagnosis, and common presentation ranging from malaise, abdominal pain, dyspnea, hypertension, to altered mental status and seizures. We also discussed management in pregnancy and included a detailed algorithm with steps to take. Of note, the most significant reduction in mortality was seen in patients receiving triple therapy which will be discussed in this review.

  9. Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

    Science.gov (United States)

    Aparisi, María J; Aller, Elena; Fuster-García, Carla; García-García, Gema; Rodrigo, Regina; Vázquez-Manrique, Rafael P; Blanco-Kelly, Fiona; Ayuso, Carmen; Roux, Anne-Françoise; Jaijo, Teresa; Millán, José M

    2014-11-18

    Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous. To date, 10 genes have been associated with the disease, making its molecular diagnosis based on Sanger sequencing, expensive and time-consuming. Consequently, the aim of the present study was to develop a molecular diagnostics method for Usher syndrome, based on targeted next generation sequencing. A custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A. A cohort of 44 patients suffering from Usher syndrome was selected for this study. This cohort was divided into two groups: a test group of 11 patients with known mutations and another group of 33 patients with unknown mutations. Forty USH patients were successfully sequenced, 8 USH patients from the test group and 32 patients from the group composed of USH patients without genetic diagnosis. We were able to detect biallelic mutations in one USH gene in 22 out of 32 USH patients (68.75%) and to identify 79.7% of the expected mutated alleles. Fifty-three different mutations were detected. These mutations included 21 missense, 8 nonsense, 9 frameshifts, 9 intronic mutations and 6 large rearrangements. Targeted next generation sequencing allowed us to detect both point mutations and large rearrangements in a single experiment, minimizing the economic cost of the study, increasing the detection ratio of the genetic cause of the disease and improving the genetic diagnosis of Usher syndrome patients.

  10. Understanding MIH: definition, epidemiology, differential diagnosis and new treatment guidelines.

    Science.gov (United States)

    Mast, P; Rodrigueztapia, M T; Daeniker, L; Krejci, I

    2013-09-01

    Molar-Incisor Hypomineralisation (MIH) is a congenital disease which increases in prevalence. It affects permanent first molars and, often to a lesser degree, permanent incisors with variable severity. The aetiology is unknown, but different hypotheses have been advanced. Differential diagnosis is mandatory not to confound MIH with other diseases. Treatment consists in a minimally invasive approach by reinforcing and protecting the existing dental structure. In more severe cases, restorative treatment may be indicated.

  11. Surgical abdomen in patients with nephrotic syndrome: complexities of differential diagnostics. 2 case reports

    OpenAIRE

    Nogaibayeva, A.; Moldakhmetova, S.; Tuganbekova, S.; Krivoruchko, N.

    2014-01-01

    INTROduCTIONANdAIMS: Differential-diagnostic search is very important at the stage of abdominal nephrotic crisis for determination of therapy tactics; as the probability of development of acute surgical pathology is very high, due to connection of infectious complications on a background of the basic pathology and immunosupression. We report 2 patients with acute onset of abdominal pain on a background of severe nephrotic syndrome (NS). METHOdS: Case 1: 20-years old man with bioptic diagnosis...

  12. [Diagnosis of peripheral neurovascular syndromes in miners exposed to vibration].

    Science.gov (United States)

    Naumenko, B S; Dvornichenko, H B; Iashchenko, A B

    2005-01-01

    1337 miners of iron-ore mines in Krivoi Rog were examined. 1163 of them underwent out-patient and the rest (174 patients) in-patient examination. 28% of miners were found to have peripheral neurovascular disorders. Main clinical signs of peripheral neurovascular syndromes of occupational origin and criteria of the diagnostics were defined. The application of the worked-out pathometric diagnostic tables will considerably increase the accuracy and the safety of the diagnosis (up to 94%), the efficacy of the treatment and quality of prognosis for many occupational diseases presented clinically with peripheral neurovascular syndromes.

  13. Nasal rhinosporidiosis: differential diagnosis of fungal sinusitis and inverted papilloma

    Directory of Open Access Journals (Sweden)

    Crosara, Paulo Fernando Tormin Borges

    2009-03-01

    Full Text Available Introduction: Clinical case report of rhinosporidiosis, a rare and chronic granulomatous disease, caused by Rhinosporidium seeberi. Objective: To include this disease in the differential diagnoses of polypoid lesions of the nasal mass. Report: A male patient from the North of Brazil evolved a three-year papilomatous polypoid lesion of the left nasal cavity. He was submitted to sinusectomy with resection of the entire lesion, located in ethmoid bulla and uncinated process. Inverted papilloma or fungal sinusitis were differential diagnoses. The histopathological examination revealed a strong infestation by numerous fungal structures with sporangia shape full of sporangiospores. The microorganisms were positive for colorations of Grocott, PAS and Mayer's Mucicarmin; opposite from Coccidioides immitis, which presents no contrast by the mucicarmin. We didn't choose complimentary treatment and after one year of follow-up he presents with no sign of recurrence. Final Comments: Rhinosporidiosis must be considered to be a nasal polypoid lesion differential diagnosis. In the intranasal lesions diagnosis we should keep in mind the patient's origin. The anatomopathological study is mandatory to set the diagnosis. In the rhinosporidiosis, the surgical exeresis can be a curative treatment.

  14. Differential diagnosis of granulomatous lung disease: clues and pitfalls

    Directory of Open Access Journals (Sweden)

    Shinichiro Ohshimo

    2017-09-01

    Full Text Available Granulomatous lung diseases are a heterogeneous group of disorders that have a wide spectrum of pathologies with variable clinical manifestations and outcomes. Precise clinical evaluation, laboratory testing, pulmonary function testing, radiological imaging including high-resolution computed tomography and often histopathological assessment contribute to make a confident diagnosis of granulomatous lung diseases. Differential diagnosis is challenging, and includes both infectious (mycobacteria and fungi and noninfectious lung diseases (sarcoidosis, necrotising sarcoid granulomatosis, hypersensitivity pneumonitis, hot tub lung, berylliosis, granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis, rheumatoid nodules, talc granulomatosis, Langerhans cell histiocytosis and bronchocentric granulomatosis. Bronchoalveolar lavage, endobronchial ultrasound-guided transbronchial needle aspiration, transbronchial cryobiopsy, positron emission tomography and genetic evaluation are potential candidates to improve the diagnostic accuracy for granulomatous lung diseases. As granuloma alone is a nonspecific histopathological finding, the multidisciplinary approach is important for a confident diagnosis.

  15. Basic pattern in CT of the lung and differential diagnosis

    International Nuclear Information System (INIS)

    Jacobi, V.; Thalhammer, A.

    2006-01-01

    Infectious, physical, chemical or other noxae elicit a limited number of reactions in lung tissue. As in the case of other organs and tissues, lung tissue has specific reactions that are often more indicative of the particular organ than the harmful agent. The resulting radiological features are usually ambiguous and therefore prevent definitive diagnosis. This complicates etiological categorization of the disease. Pathognomonic findings are rare. The same noxa can yield different radiographic features and clinical pictures for different patients. A diagnosis is generally not comprised of a single radiographic feature, but rather of a combination of a plurality of features. Although the number of possible diagnoses can be limited via radiological means, a final diagnosis is determined in conjunction with the medical history, the clinical picture, as well as lab and histopathological values. This article defines the most common pulmonary changes and also discusses differential diagnostic criteria. (orig.)

  16. Ultrasound in differential diagnosis of periapical radiolucencies: A radiohistopathological study

    Science.gov (United States)

    Khambete, Neha; Kumar, Rahul

    2015-01-01

    Objectives: To evaluate the efficacy of ultrasound in differential diagnosis of periapical radiolucencies. Materials and Methods: Ten patients aged between 19 years and 40 years with periapical lesions associated with anterior maxillary or mandibular teeth were selected and consented for the study. Pre-operative periapical radiographs were obtained. Measurements and provisional diagnoses of the apical areas were made by two specialist observers on two separate occasions. Preoperative ultrasound examinations with Doppler flowmetry were then performed and the images assessed by two specialist observers for the size, contents, vascular supply and a provisional diagnosis made as to whether the lesion was a cyst or granuloma. Endodontic surgery was performed including curettage of the apical tissues to enable histopathological investigation, which provided the gold standard diagnosis. All measurements and findings were compared and statistically analyzed. Results: Total 10 lesions were identified in 10 patients. On periapical radiographs, lesions were readily identified but observers were unable to differentiate granuloma from cyst using either modality. Where sufficient buccal cortical bone had been resorbed, ultrasound imaging was simple but underestimated the size of the lesions compared with periapical radiographs. In all cases, the ultrasound diagnosis agreed with the histopathological gold standard. Conclusion: Ultrasonography (USG) can provide accurate information about the nature of intraosseous lesions of the jaws before any surgical procedure. It is proposed that USG with Doppler flowmetry can provide an additional diagnostic tool without invasive surgery, where treatment option is nonsurgical. PMID:25657525

  17. Brazilian Medical Association guidelines for the diagnosis and differential diagnosis of panic disorder

    Directory of Open Access Journals (Sweden)

    Michelle Nigri Levitan

    2013-12-01

    Full Text Available Objective: To present the most relevant findings regarding the Brazilian Medical Association guidelines for the diagnosis and differential diagnosis of panic disorder. Methods: We used the methodology proposed by the Brazilian Medical Association for the Diretrizes Project. The MEDLINE (PubMed, Scopus, Web of Science, and LILACS online databases were queried for articles published from 1980 to 2012. Searchable questions were structured using the PICO format (acronym for “patient” [or population], “intervention” [or exposure], “comparison” [or control], and “outcome”. Results: We present data on clinical manifestations and implications of panic disorder and its association with depression, drug abuse, dependence and anxiety disorders. In addition, discussions were held on the main psychiatric and clinical differential diagnoses. Conclusions: The guidelines are proposed to serve as a reference for the general practitioner and specialist to assist in and facilitate the diagnosis of panic disorder.

  18. Diagnosis and management of Silver-Russell syndrome

    DEFF Research Database (Denmark)

    Wakeling, Emma L; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi

    2017-01-01

    small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result......This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born...... from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor...

  19. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Esther Perez-Carbajo

    2015-01-01

    Full Text Available Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.

  20. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    International Nuclear Information System (INIS)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L.

    2005-01-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound

  1. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L. [Singapore General Hospital (Singapore). Depts. of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology

    2005-10-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound.

  2. Noonan syndrome: clinical features, diagnosis, and management guidelines.

    Science.gov (United States)

    Romano, Alicia A; Allanson, Judith E; Dahlgren, Jovanna; Gelb, Bruce D; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E; Robinson, Wanda; Takemoto, Clifford M; Noonan, Jacqueline A

    2010-10-01

    Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively. The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by NS. The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.

  3. Diagnosis of 20 cases with chronic radiation syndrome

    International Nuclear Information System (INIS)

    Zhang, Hongshou; Shen, Zhezhong; Wen Zhigen; Xie, Xiaoping; Ni, Jinxian

    1984-01-01

    Twenty cases with chronic radiation syndrome were diagnosed in our department during 1957-1980. All except one were radiologists, and eight of them had worked in radiological departments for over 20 years. Owing to the use of out-dated x-ray machines as well as radium sources without adequate protection, all these cases were apparently overexposed to radiation. They presented following signs and symptoms of chronic radiation syndrome: excitability, palpitation, fatigue, general weakness, loss of weight, oversweating accompanied by tendency of lowered metabolism, peripheral blood cell changes, and chromosome aberrations. The diagnosis of this syndrome was based on definitive professional and over-exposure history, clinical picture and abnormal laboratory findings. (author)

  4. Epidemiology, diagnosis, and management of polycystic ovary syndrome

    OpenAIRE

    Sirmans SM; Pate KA

    2013-01-01

    Susan M Sirmans, Kristen A PateDepartment of Clinical and Administrative Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA, USAAbstract: Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and...

  5. Diagnosis and management of acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Baker Hamilton

    2013-09-01

    La prévalence des maladies cardiovasculaires connaît une croissance rapide dans les pays en développement, entraînant une incidence croissante du syndrome coronarien aigu (SCA. Les modalités de diagnostic et de traitement de cette maladie continuent d’évoluer, et il convient de tenir compte des ressources locales lors de la réalisation d’un diagnostic et la détermination des options thérapeutiques. Cet article constitue un guide à la prise en charge du SCA fondé sur l’expérience, et fournit des recommandations spécifiques destinées aux médecins hospitaliers travaillant dans les pays à bas et moyen revenu. Le diagnostic du SCA, y compris les SCA sans élévation du ST et avec élévation du ST, se concentre sur la stratification du risque, la vigilance relative aux manifestations subtiles ou atypiques, et la prise en considération d’autres causes des douleurs poitrinaires. Le processus de diagnostic implique l’évaluation des facteurs de risque, la connaissance des antécédents médicaux défavorables et les conclusions de l’examen physique (des variantes étant susceptibles d’exister dans les différentes populations, ainsi que l’utilisation de tests de diagnostic appropriés. Il est recommandé d’utiliser de l’aspirine à titre de traitement initial, parallèlement à un antiagrégant plaquettaire supplémentaire. Le prasugrel est préféré au clopidogrel si le patient présente un SCA avec élévation du ST et qu’une intervention coronaire percutanée (ICP est prévue. La bivalidurine devrait être le premier choix pour éviter la coagulation dans les SCA avec élévation du ST, suivie de l’enoxaparine (qui ne nécessite pas de perfusion, puis d’héparine non fractionnée. Pour les patients présentant un SCA sans élévation du ST et en cas de risque de saignement accru, le fondaparinux devrait être envisagé à la place de l’énoxaparine. Les patients souffrant de dyspnée, présentant des signes d

  6. Prenatal diagnosis of Neu-Laxova syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Polat Ibrahim

    2002-02-01

    Full Text Available Abstract Background Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS diagnosed prenatally by ultrasound examination. Case presentation A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome. Conclusion Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

  7. A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

    Directory of Open Access Journals (Sweden)

    Gianluigi Laccetta

    2017-11-01

    Full Text Available Sotos syndrome (SoS is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th–50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages. The patient showed neonatal jaundice, hypotonia, feeding difficulties, frequent vomiting, and gastroesophageal reflux. After the age of 6 months, his weight, length, and head circumference were above the 97th centile; psychomotor development was delayed. At the age of 9 years, the patient showed also joint laxity and scoliosis. DNA sequence analysis of NSD1 gene detected a novel heterozygous mutation (c.521T>A, p.Val174Asp in exon 2. The same mutant allele was also found in the mother and in the maternal grandfather of the proband; both the mother and the maternal grandfather of the proband showed isolated overgrowth with height above the 97th centile in absence of other features of SoS. At present 23 familial cases of SoS have been described (two cases with mutation in exon 2 of NSD1 gene; no familial cases of SoS with mutation of NSD1 gene and isolated overgrowth have been reported. Probably, point mutations of NSD1 gene, and particularly mutations between exon 20 and exon 23, are not likely to affect reproductive fitness. Epigenetic mechanisms and intrauterine environment may influence phenotypes, therefore genetic tests are not useful to predict the phenotype but they are indispensable for the diagnosis of SoS. This is the first Italian familial case of SoS with genetic confirmation and the third report in which a

  8. The Addenbrooke's Cognitive Examination for the differential diagnosis and longitudinal assessment of patients with parkinsonian disorders.

    Science.gov (United States)

    Rittman, Timothy; Ghosh, Boyd C; McColgan, Peter; Breen, David P; Evans, Jonathan; Williams-Gray, Caroline H; Barker, Roger A; Rowe, James B

    2013-05-01

    Differentiating idiopathic Parkinson's disease from atypical parkinsonian syndromes is challenging, especially in the early stages. We assessed whether the Revised Addenbrooke's Cognitive Examination (ACE-R) could differentiate between parkinsonian syndromes and reflect longitudinal changes in cognition in these disorders. The ACE-R was administered at baseline and after approximately 18 months to 135 patients with parkinsonian disorders: 86 with idiopathic Parkinson's disease (PD), 30 with progressive supranuclear palsy (PSP), 19 with corticobasal degeneration (CBD). We assessed differences between groups for ACE-R, ACE-R subscores and Mini Mental State Examination (MMSE) scores at baseline (analyses of variance, receiver operating characteristics curves), and the interaction between diagnosis and change in ACE-R scores between visits (analyses of variance). The ACE-R verbal fluency subscore distinguished between PSP and PD with a high sensitivity (0.92) and specificity (0.87); total ACE-R score and the visuospatial subscore were less specific (0.87 and 0.84 respectively) and sensitive (0.70 and 0.73). Significant group level differences were found between PD and PSP for MMSE and ACE-R (total score and subscores for attention and concentration, fluency, language, and visuospatial function), and between PD and CBD for the ACE-R visuospatial subscore. Performance worsened between visits for ACE-R score in PD (p=0.001) and CBD (p=0.001); visuospatial subscore in PD (p=0.003), PSP (p=0.022) and CBD (p=0.0002); and MMSE in CBD (p=0.004). We propose the ACE-R, particularly the verbal fluency subscore, as a valuable contributor to the differential diagnosis of parkinsonian syndromes in the correct clinical context. The ACE-R may reflect disease progression in PD and CBD.

  9. Twin-twin transfusion syndrome - diagnosis and prognosis

    Directory of Open Access Journals (Sweden)

    Hajrić-Egić Amira

    2003-01-01

    Full Text Available Twin-twin transfusion syndrome is a serious complication of monozygotic, monochorionic, diamniotic twins resulting from transplacental vascular communications. In this syndrome blood is thought to be shunted from one twin - donor,who develops anaemia,growth retardation and oligoamnios, to the other twin - recipient,who becomes plethoric,macrosomic and develops polyhydroamnios. The incidence of twin-twin transfusion syndrome ranges from 5-15% of all twin pregnancies. If this condition develops in the second trimester, it is usually associated with spontaneous abortion and death of one or both fetuses before viability. Developing the syndrome in the third trimester has better perinatal outcome. Mortality rates ranging from 56%-100%, depending on gestational age and severity of the syndrome. The ultrasound criterias for diagnosis, in this study,were the presence of twins of the same sex with discordant growth, with oligohydroamnios in one twin sac and polyhydroamnios in the other one, one placenta and thin membrane between twins. The present study shows clinical course of 14 cases and value of Doppler ultrasound to analyze the usefulness of umbilical artery blood flow velocimetry for predicting the risk of twin-twin transfusion syndrome. 14 twin pregnancies with twin-twin transfusion syndrome were diagnosed during the last four years period and prospectivelly followed. 9 cases were diagnosed before the completion od 28 weeks of gestation.The mean gestational age was 21,6_+4,2 weeks at diagnosis and 23,2+_3,6 weeks at delivery. 5 cases were diagnosed after 28 weeks of gestation. The mean gestational age in this group was 29,6+_2,1 weeks at diagnosis and 33+_3,3 weeks at delivery. The survival rate in this study was 29%(8/28.9 cases ended in spontaneous abortion between 18th and 27th weeks of pregnancy (table 1 and 5 in premature labor (table 2.There were 7 intrauterine death (5 at admission and 2 few days after admission and 13 neonatal deaths

  10. Differential diagnosis of cystic bone tumors in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Refior, H.J.; Stuerz, H.

    1982-09-01

    Skeletal changes leading to a suspicion of the presence of a tumour frequently occur in childhood with the roentgenological manifestation of a cyst. X-ray morphology can differ depending upon the localisation and the course. In childhood, however such findings are mainly classified as tumour-like bone lesions. This group comprises, inter alia, the juvenile bone cyst, the aneurysmatic bone cyst and fibrous dysplasia. However, it is necessary to exclude by differential diagnosis - even though the main age of manifestation is after completion of growth - genuine bone tumours with cystic phenomena, such as the giant cell tumour, chondroma or chondroblastoma. Verification of the diagnosis can be effected via radiologic-diagnostic methods such as tomography and angiography as well as computerized tomography. The use of scintigraphy of the skeleton can likewise be indicated. Numerous laboratory parameters can be used in individual cases to exclude certain diagnoses. Taking these aspects into consideration, the article reviews differential diagnosis of the most frequent skeletal affections in childhood. Great emphasis is given to the ranking and importance of the individual diagnostic methods.

  11. The reversed halo sign: update and differential diagnosis

    Science.gov (United States)

    Godoy, M C B; Viswanathan, C; Marchiori, E; Truong, M T; Benveniste, M F; Rossi, S; Marom, E M

    2012-01-01

    The reversed halo sign is characterised by a central ground-glass opacity surrounded by denser air–space consolidation in the shape of a crescent or a ring. It was first described on high-resolution CT as being specific for cryptogenic organising pneumonia. Since then, the reversed halo sign has been reported in association with a wide range of pulmonary diseases, including invasive pulmonary fungal infections, paracoccidioidomycosis, pneumocystis pneumonia, tuberculosis, community-acquired pneumonia, lymphomatoid granulomatosis, Wegener granulomatosis, lipoid pneumonia and sarcoidosis. It is also seen in pulmonary neoplasms and infarction, and following radiation therapy and radiofrequency ablation of pulmonary malignancies. In this article, we present the spectrum of neoplastic and non-neoplastic diseases that may show the reversed halo sign and offer helpful clues for assisting in the differential diagnosis. By integrating the patient's clinical history with the presence of the reversed halo sign and other accompanying radiological findings, the radiologist should be able to narrow the differential diagnosis substantially, and may be able to provide a presumptive final diagnosis, which may obviate the need for biopsy in selected cases, especially in the immunosuppressed population. PMID:22553298

  12. Differential diagnosis and treatment of periodontitis-mimicking actinomycosis.

    Science.gov (United States)

    Kim, Nam Ryang; Park, Jun-Beom; Ko, Youngkyung

    2012-12-01

    Actinomycosis is an uncommon chronic granulomatous disease that presents as a slowly progressive, indolent, indurated infiltration with multiple abscesses, fistulas, and sinuses. The purpose of this article is to report on a case of actinomycosis with clinical findings similar to periodontitis. A 46-year-old female presented with recurrent throbbing pain on the right first and second molar of the mandible three weeks after root planing. Exploratory flap surgery was performed, and the bluish-gray tissue fragment found in the interproximal area between the two molars was sent for histopathology. The diagnosis from the biopsy was actinomycosis. The clinical and radiographic manifestations of this case were clinically indistinguishable from periodontitis. The patient did not report any symptoms, and she is scheduled for a follow-up visit. The present study has identified periodontitis-mimicking actinomycosis. Actinomycosis should be included in the differential diagnosis in cases with periodontal pain and inflammation that do not respond to nonsurgical treatment for periodontitis. More routine submissions of tissue removed from the oral cavity for biopsies may be beneficial for differential diagnosis.

  13. Sclerosing cholangitis: Clinicopathologic features, imaging spectrum, and systemic approach to differential diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Ni Eun [Dept. of Radiology, Research Institute of Radiological Science, Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of); Kim, So Yeon; Lee, Seung Soo; Byun, Jae Ho; Kim, Hyoung Jung; Kim, Jin Hee; Lee, Moon Gyu [Dept. of Radiology and Research Institute of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    2016-02-15

    Sclerosing cholangitis is a spectrum of chronic progressive cholestatic liver disease characterized by inflammation, fibrosis, and stricture of the bile ducts, which can be classified as primary and secondary sclerosing cholangitis. Primary sclerosing cholangitis is a chronic progressive liver disease of unknown cause. On the other hand, secondary sclerosing cholangitis has identifiable causes that include immunoglobulin G4-related sclerosing disease, recurrent pyogenic cholangitis, ischemic cholangitis, acquired immunodeficiency syndrome-related cholangitis, and eosinophilic cholangitis. In this review, we suggest a systemic approach to the differential diagnosis of sclerosing cholangitis based on the clinical and laboratory findings, as well as the typical imaging features on computed tomography and magnetic resonance (MR) imaging with MR cholangiography. Familiarity with various etiologies of sclerosing cholangitis and awareness of their typical clinical and imaging findings are essential for an accurate diagnosis and appropriate management.

  14. Sclerosing Cholangitis: Clinicopathologic Features, Imaging Spectrum, and Systemic Approach to Differential Diagnosis.

    Science.gov (United States)

    Seo, Nieun; Kim, So Yeon; Lee, Seung Soo; Byun, Jae Ho; Kim, Jin Hee; Kim, Hyoung Jung; Lee, Moon-Gyu

    2016-01-01

    Sclerosing cholangitis is a spectrum of chronic progressive cholestatic liver disease characterized by inflammation, fibrosis, and stricture of the bile ducts, which can be classified as primary and secondary sclerosing cholangitis. Primary sclerosing cholangitis is a chronic progressive liver disease of unknown cause. On the other hand, secondary sclerosing cholangitis has identifiable causes that include immunoglobulin G4-related sclerosing disease, recurrent pyogenic cholangitis, ischemic cholangitis, acquired immunodeficiency syndrome-related cholangitis, and eosinophilic cholangitis. In this review, we suggest a systemic approach to the differential diagnosis of sclerosing cholangitis based on the clinical and laboratory findings, as well as the typical imaging features on computed tomography and magnetic resonance (MR) imaging with MR cholangiography. Familiarity with various etiologies of sclerosing cholangitis and awareness of their typical clinical and imaging findings are essential for an accurate diagnosis and appropriate management.

  15. Differential Diagnosis of Parotid Lipoma in a Breast Ca Patient

    Directory of Open Access Journals (Sweden)

    Melda Misirlioglu

    2017-01-01

    Full Text Available Lipomas are common benign tumors usually detected on the torso, neck, upper thighs, and upper arms. However, they are rarely found in the parotid gland region. Because of their rarity at this site, they are not often considered in the differential diagnosis of parotid tumors. This report describes a rare case of a lipoma in the superficial lobe of parotid gland. A 71-year-old female patient admitted to our department complaining about swelling and pain in the posterior area of the left mandibular region since one month. Her medical history included mastectomy after breast CA fifteen years ago. Clinical examination revealed a smooth-surfaced, soft, and painful mass, with well-defined margins in the left mandibular region. Differential diagnosis of metastasis, inflammatory neck swellings, and benign salivary gland tumors were considered for the patient. Advanced imaging methods such as ultrasonography and contrast tomography revealed that the lesion was a lipoma of parotid gland. A surgical intervention under general anesthesia was planned for the removal of the mass; however patient refused the surgical treatment. Patient was placed on six-month periodic recall. This article reviews the radiographic appearance and differential diagnoses of lipoma in this rare location.

  16. Schnitzler Syndrome With Delirium and Vertigo: The Utility of Neurologic Manifestations in Diagnosis.

    Science.gov (United States)

    Tolkachjov, Stanislav N; Wetter, David A

    2017-06-01

    Schnitzler syndrome (SS) is an autoinflammatory dermatosis that often goes undiagnosed for 5-6 years. Patients typically carry a diagnosis of urticaria; however, their cutaneous symptoms fail to respond to typical urticaria therapies and lack symptoms such as pruritus. Additionally, patients with SS may see multiple providers for nonspecific complaints of fever, lymphadenopathy, arthralgias, and bone pain. A correct diagnosis is paramount, as close to 20% of patients may develop a lymphoproliferative disorder and appropriate treatment may ameliorate all symptoms.1 We report 2 cases of SS misdiagnosed as urticaria for years in order to illuminate diagnostic pearls, histopathological findings, and treatment modalities. Additionally, we highlight the importance of neurologic disturbances in this rare but important differential diagnosis of urticaria. J Drugs Dermatol. 2017;16(6):625-627..

  17. Nuclear medicine and MRI in differential diagnosis of doubtful spinal disorders

    International Nuclear Information System (INIS)

    Szilvasi, J.; Mester, A.R.; Kaposi, P.N.; Gyorke, T.; Karlinger, K.; Mako, E.K.

    2004-01-01

    Full text: Purpose of presentation is a retrospective analysis and pictorial assay of MRI in differential diagnosis of spinal diseases with increased Tc-99m-MDP uptake on the whole body bone scan. A retrospective analysis of 200 spine cases was carried out in respect of metastatic, osteoporotic and degenerative bony lesions with similar appearance of bone scan. Referring diagnoses were either spinal pain syndromes or tumour staging. Double headed gamma camera (ADAC) and a low field whole body (0.3 T, Hitachi) scanner were used. Bone scan, SPECT and routine SE T1 and SE T2 sequences were completed with STIR and Gd contrast administration in selected complicated cases. Recently additional opposed phase GRE sequences were used as well. In doubtful whole body scintigraphic cases, SPECT study was performed. Cases with uncertain diagnosis were sent for MRI study. Increased T2 signal and decreased T1 signal, if diffusely distributed in the vertebral body, is characteristic to recent osteoporotic compressions. In cases of non-compressed (metastatic) vertebral bodies with diffuse increased T2 signal increase this appearance had predictive value of imminent compression fracture. Increased T2 signal with decreased T1 signal in adjacent vertebral bodies accompanied by irregularity of contours and of signal intensity involving the inter-vertebral disc, and Gd enhancement were symptoms of infection, in particularly spondylodiscitis. Opposed phase GRE sequences seems to be optimal in differentiation of metastatic lesions versus porotic lesions. We conclude that routine bone scan, and MRI in selected patients suffering from back pain syndrome can help differentiation of osteoporotic versus metastatic and degenerative vertebral lesions. Additional STIR sequence, Gd administration and opposed phase GRE imaging make the diagnosis more specific. (author)

  18. [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.

  19. Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis.

    Science.gov (United States)

    Garnier, Arnaud; Dreux, Sophie; Vargas-Poussou, Rosa; Oury, Jean-François; Benachi, Alexandra; Deschênes, Georges; Muller, Françoise

    2010-03-01

    Bartter syndrome is an autosomic recessive disease characterized by severe polyuria and sodium renal loss. The responsible genes encode proteins involved in electrolyte tubular reabsorption. Prenatal manifestations, mainly recurrent polyhydramnios because of fetal polyuria, lead to premature delivery. After birth, polyuria leads to life-threatening dehydration. Prenatal genetic diagnosis needs an index case. The aim of this study was to analyze amniotic fluid biochemistry for the prediction of Bartter syndrome. We retrospectively studied 16 amniotic fluids of Bartter syndrome-affected fetuses diagnosed after birth, only six of them being genetically proven. We assayed total proteins, alpha-fetoprotein, and electrolytes and defined a Bartter index corresponding to the multiplication of total protein and of alpha-fetoprotein. Results were compared with two control groups matched for gestational age-non-Bartter polyhydramnios (n = 30) and nonpolyhydramnios (n = 60). In Bartter syndrome, we observed significant differences (p Bartter index (0.16, 0.82, and 1.0, respectively). No statistical difference was observed for electrolytes. In conclusion, Bartter syndrome can be prenatally suspected on amniotic fluid biochemistry (sensitivity 93% and specificity 100%), allowing appropriate management before and after birth.

  20. Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

    Science.gov (United States)

    Rachid, Myriam; Dreux, Sophie; Pean de Ponfilly, Gauthier; Vargas-Poussou, Rosa; Czerkiewicz, Isabelle; Chevenne, Didier; Oury, Jean-François; Deschênes, Georges; Muller, Françoise

    2017-04-01

    Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age. Two controls groups were defined: controls with polyhydramnios (n=72) and control without polyhydramnios (n=72). Amniotic fluid aldosterone was compared between the three groups. The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) did not differ significantly from that in the controls with polyhydramnios (90 pg/mL, p=0.33) or the controls without polyhydramnios (87 pg/mL, p=0.41). In conclusion, amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome.

  1. Rapid differential diagnosis of diabetes insipidus in a 7-month-old infant: The copeptin approach.

    Science.gov (United States)

    Vergier, J; Fromonot, J; Alvares De Azevedo Macedo, A; Godefroy, A; Marquant, E; Guieu, R; Tsimaratos, M; Reynaud, R

    2018-01-01

    Diabetes insipidus is characterized by hypoosmotic polyuria related to deficiency of arginine-vasopressin (AVP) secretion (central diabetes insipidus, CDI) or renal insensitivity to AVP (nephrogenic diabetes insipidus, NDI). The water deprivation test with assessment of AVP activity is currently the gold standard for differential diagnosis in patients presenting polyuria-polydipsia syndrome. Nevertheless, it can be dangerous without proper surveillance and its interpretation may be challenging. Other markers have been suggested. Direct quantification of circulating AVP is not sufficient for diagnosis: vasopressin is unstable, analysis is complex. AVP comes from prohormone preprovasopressin with concomitant release of copeptin (C-terminal moiety) in the equimolar ratio. Copeptin is stable in vitro, with easy and rapid measurement (polyuria in adults, but its value has not been demonstrated in infants yet. A 7-month-old infant presented polyuria-polydipsia syndrome with poor weight gain. Laboratory tests pointed out hypernatremia (170mmol/L) and blood hyperosmolarity (330mOsm/L) with inappropriate urinary hypoosmolarity (168mOsm/L). Plasmatic copeptin measurement was found at a very high level, 303pmol/L (1-14pmol/L). DdAVP administration did not improve the polyuria, confirming the final diagnosis of NDI. Hyperhydration with a hypoosmolar diet normalized the hydration status and circulating levels of copeptin within 1 week. Copeptin, a stable peptide reflecting AVP secretion, could be a safer and faster biomarker for etiological diagnosis of polyuria-polydipsia syndrome in children. Before regularization of hydration status, a single baseline measurement may be enough to discriminate NDI from other etiologies without the water deprivation test. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  2. Differential diagnosis of the signal-compromised lunate in MRI

    International Nuclear Information System (INIS)

    Schmitt, R.; Christopoulos, G.; Coblenz, G.; Froehner, S.; Brunner, H.; Kalb, K.; Krimmer, H.; Lanz, U.

    2005-01-01

    Purpose: To define both the underlying pathology and diagnostic criteria in lunates presenting with conspicuous signal pattern in MRI. Materials and Methods: The retrospective evaluation of 2940 MRI examinations revealed 203 patients with signal alterations of the lunate. All MRI examinations were performed on 1.5-Tesla platforms using dedicated surface coils and an intravenous contrast agent. To establish a definitive diagnosis, a total of 252 MRI examinations (49 follow-ups), 22 CT examinations and 4 arthroscopic studies were obtained in addition to the obligatory conventional radiographs. Results: Incorporating all clinical data, radiographs and MRI examinations succeeded in assigning a diagnosis in 136 signal-compromised lunates (67.0%), whereas additional diagnostic procedures or follow-up examinations were required for the definitive diagnosis in 57 cases (33.0%). The most frequent entities were 51 cases of Kienboeck's disease (25.1%), 47 cases of ulnolunate-(triquetral) impaction syndromes (23.2%) and 44 cases of intra-osseous ganglion cysts (21.7%). Other pathologies included 23 degenerative, 19 traumatic and 10 inflammatory changes as well as 9 congenital conditions. For MRI assessment of the altered lunate, the most important parameters were location and morphology as well as involvement of the articular and osseous structures of the carpus. Conclusion: The lunate may be affected by different pathological states of the wrist. In total, only one quarter of the signal-compromised lunate represented Kienboeck's disease. (orig.)

  3. Headache and facial pain: differential diagnosis and treatment.

    Science.gov (United States)

    Bernstein, Jonathan A; Fox, Roger W; Martin, Vincent T; Lockey, Richard F

    2013-01-01

    Headaches affect 90% of the population sometime during their life. Most are benign and fleeting, some are serious and life-threatening, and others require ongoing medical consultation and treatment. A careful history and physical is necessary to establish a differential diagnosis and to guide the choice of testing to make an accurate diagnosis. The most common types of headaches are discussed in this review. They are divided into primary and secondary headache disorders as classified by the International Headache Society. Primary headache disorders include migraine without and with aura, cluster and tension-type headaches. Secondary headaches are those that occur as a result of some other disorder and include brain tumors, rhinosinusitis, diseases of intracranial and extracranial vasculature, and temporomandibular joint disease. Copyright © 2013 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  4. Antenatal Hydronephrosis: Differential Diagnosis, Evaluation, and Treatment Options

    Science.gov (United States)

    Herndon, C.D. Anthony

    2006-01-01

    The diagnosis, evaluation and management of antenatal hydronephrosis has undergone a two stage paradigm shift since the advent of prenatal ultrasonography in the early 1980s. Initially the identification of a large number of asymptomatic infants appeared to afford the surgeon the opportunity for preemptive intervention. However, it has now become apparent that antenatal hydronephrosis (AH) is far more difficult to interpret thanoriginally perceived. The initial enthusiasm for surgery has now been replaced by a much more conservative approach to ureteropelvic junction(UPJ) obstruction, multi-cystic dysplastic kidney(MCDK), vesicoureteral reflux and the non-refluxing megaureter. This review will highlight the postnatal evaluation of AH and include an overview of the Society for Fetal Urology grading system for hydronephrosis. The differential diagnosis and treatment options for UPJ obstruction, vesicoureteral reflux, MCDK, duplication anomalies, megaureter, and posterior urethral valves will be discussed. PMID:17619702

  5. Inferior petrosal sinus sampling in the diagnosis of adrenocorticotropin dependent Cushing syndrome with unknown origin

    International Nuclear Information System (INIS)

    Shen Xuefeng; Yuan Dequan; Yue Ming; Feng Juanjuan

    2011-01-01

    Objective: To evaluate the value of inferior petrosal sinus sampling (IPSS) in the diagnosis of adrenocorticotropic hormone (ACTH) dependent Cushing syndrome (CS) with unknown origin. Methods: IPSS was carried out for the diagnosis of 16 cases with ACTH dependent CS who had not been identified after a series of dexamethasone suppression tests and radiological examinations. The ratio of inferior petrosal sinus/peripheral ACTH was assayed. The sensitivity and specificity of diagnosis of the Cushing disease were estimated. Results: The inferior petrosal sinus/peripheral ACTH ratio was over 2.0 in 13 cases. Twelve cases underwent surgery with pathological diagnosis of pituitary ACTH adenoma, 1 patient relieved after γ knife treatment. The ratio was < 2.0 in 3 cases including 2 pulmonary carcinoid and one pituitary ACTH adenoma. The sensitivity and specify of IPSS for the diagnosis of Cushing disease were 13/14 and 2/2 respectively. Conclusion: IPSS was a safe technique with high sensitivity, specify and infrequent complications in the diagnosis of ACTH dependent Cushing disease. It had great clinical value in the differential diagnosis of ACTH dependent Cushing disease with unknown origin. (authors)

  6. Chromosome 15q overgrowth syndrome: Prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15(q26.2q26.3

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2011-09-01

    Conclusion: The present case provides evidence for prenatal overgrowth, craniosynostosis, and characteristic facial dysmorphism in association with a duplication of 15q26.2→q26.3 and a duplication of the IGF1R gene. Prenatal diagnosis of fetal overgrowth should include a differential diagnosis of the chromosome 15q overgrowth syndrome.

  7. Whole Body Magnetic Resonance Imaging in the Diagnosis of Parsonage Turner Syndrome

    International Nuclear Information System (INIS)

    Ryan, M.; Twair, A.; Nelson, E.; Brennan, D.; Eustace, S.

    2004-01-01

    Purpose: To describe magnetic resonance imaging (MRI) findings in patients with suspected Parsonage Turner syndrome and to emphasize the value of an additional whole body MR scan to improve specificity of this diagnosis. Material and Methods: Three patients with proven Parsonage Turner syndrome referred for conventional MRI of the shoulder girdle and additional whole body turboSTIR MRI were included for study. Results: In each case, imaging revealed edema in the muscles of the shoulder girdle. Whole body turboSTIR MRI scan confirmed localized unilateral changes in each case improving specificity and confidence in the diagnosis of Parsonage Turner syndrome in each case. Conclusion: Whole body turboSTIR MR imaging is a useful diagnostic tool in the evaluation of patients with suspected Parsonage Turner syndrome. Inclusion of the brain, neck, brachial plexus, and extremity musculature at whole body imaging allows differentiation from polymyositis and elimination of additional causes of shoulder girdle pain and weakness including gross lesions in the brain, neck, and brachial plexus by a single non-invasive study

  8. Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation

    Directory of Open Access Journals (Sweden)

    Yuming Wang

    2016-03-01

    Full Text Available Cockayne syndrome (CS is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing downstream target genes. Intriguingly, ectopic expression of Synaptotagmin 9 (SYT9, a key component of the machinery controlling neurotrophin release, bypasses the need for CSB in neuritogenesis. Importantly, brain-derived neurotrophic factor (BDNF, a neurotrophin implicated in neuronal differentiation and synaptic modulation, and pharmacological mimics such as 7,8-dihydroxyflavone and amitriptyline can compensate for CSB deficiency in cell models of neuronal differentiation as well. SYT9 and BDNF are downregulated in CS patient brain tissue, further indicating that sub-optimal neurotrophin signaling underlies neurological defects in CS. In addition to shedding light on cellular mechanisms underlying CS and pointing to future avenues for pharmacological intervention, these data suggest an important role for SYT9 in neuronal differentiation.

  9. Costal chondrosarcoma requiring differential diagnosis from metastatic tumor.

    Science.gov (United States)

    Matsuoka, Katsunari; Ueda, Mitsuhiro; Miyamoto, Yoshihiro

    2017-02-01

    Although chondrosarcoma is a common malignant bone tumor, cases arising in the rib are relatively rare. We experienced a case of chondrosarcoma arising in the right 10th rib during follow-up after lung cancer surgery. Although the finding of an osteolytic mass suggested a metastatic bone tumor, 18F-fluorodeoxyglucose positron-emission tomography demonstrated low fluorodeoxyglucose uptake, and a primary bone tumor was suspected. The bone tumor was resected and diagnosed as chondrosarcoma. Four years after resection, there has been no recurrence or metastasis. Positron-emission tomography was useful for differential diagnosis between a chondrosarcoma and a metastatic bone tumor.

  10. Neuropsychological assessment and differential diagnosis in young-onset dementias.

    Science.gov (United States)

    Sitek, Emilia J; Barczak, Anna; Harciarek, Michał

    2015-06-01

    Although Alzheimer's disease is the most common cause of dementia in the elderly, there are several conditions (ie, frontotemporal dementia or Huntington's disease) associated with a relatively earlier onset. This article provides arguments in favor of a comprehensive neuropsychological assessment in the differential diagnosis of young-onset dementia, as episodic memory impairment is not observed early in the course of most types of young-onset dementia that predominantly affect the domains of behavior, executive, language, and/or motor function. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Radiological findings and differential diagnosis in childhood asthma

    International Nuclear Information System (INIS)

    Faerber, D.; Bauer, C.P.; Hahn, H.

    1990-01-01

    In children with asthma, routine chest X-ray typically shows bilaterally increased air volume, low diaphragms, wide diaphragmatic angles, and often a slender cardiac silhouette with a prominent pulmonic arch. Such an X-ray is not diagnostic of asthma itself, however, but rather of its complications: pneumonitis (particularly in toddlers with infectious asthma), atelectasis due to mucus obstruction, and, rarely, extra-alveolar air trapping (pneumomediastinum with or without cutaneous emphysema more often than pneumothorax). The differential diagnosis has to rule out 'pseudoasthma' due to cystic fibrosis, alveolitis, achalasia, and foreign body aspiration. (orig.) [de

  12. Selenium-75-cholesterol imaging and computed tomography of the adrenal glands in differentiating the cause of Cushing's syndrome

    International Nuclear Information System (INIS)

    Miller, J.L.; Smith, J.A.; Mervis, B.; Roman, T.

    1983-01-01

    Measurement of 75 Se-cholesterol (Scintadren) uptake and computed tomography (CT) of the adrenal glands were compared as a means of differentiating the cause of Cushing's syndrome in 11 patients over a 2-year period. Quantitative Scintadren imaging differentiated adrenocorticotrophic hormone (ACTH)-dependent disease from local adrenocortical lesions as the cause of Cushing's syndrome in all the patients studied. CT of the adrenal glands rapidly and accurately detected the adrenal mass lesions in 2 cases and was effective in documenting bilateral hyperplasia due to ectopic ACTH-dependent disease. However, in entopic ACTH (pituitary)-dependent disease the adrenal glands were of normal thickness in all but 2 patients, who had bilateral hyperplasia. Scintadren imaging and CT are useful non-invasive procedures for differentiating local adrenal disease from ACTH-dependent disease as the cause of Cushing's syndrome and should be the initial investigations once a firm clinical and biochemical diagnosis of Cushing's syndrome has been made

  13. Diagnosis and differential diagnosis of cerebro-vascular malformations by CT

    International Nuclear Information System (INIS)

    Schumacher, M.; Stoeter, P.; Voigt, K.

    1980-01-01

    In 38 patients, the diagnosis of a cerebrovascular malformation (17 arteriovenous angiomas including one low-flow- and two venous angiomas; 10 aneurysms; 4 arteriovenous fistulae of the cavernous sinus, the tentorium and one of the Great Vein of Galen; 6 megadolical basilar arteries) was initially made by computertomographic (CT) examination, including contrast enhancement. The characteristic and pathognomonic CT findings are described and compared with those of cerebral angiography also done in these cases. The problems of differential diagnosis and the reasons for a false CT diagnosis in 5 other patients with a cerebro-vascular malformation are investigated; and the diagnostic value of cerebral angiography and CT is discussed and their complementary functions are being pointed out. (orig.) 891 MG/orig. 892 MKO [de

  14. Paraneoplastic syndrome in urothelial carcinoma of the kidney: difficulty in diagnosis and deterioration in prognosis

    Directory of Open Access Journals (Sweden)

    I. E. Mamaev

    2015-01-01

    Full Text Available Paraneoplastic syndrome is not a common concomitance of urothelial tumors. The literature describes a few tens of clinical cases in which urothelial cancer has become a cause of marked nonspecific tumor-associated reactions, associated with the presence of the tumor. Bladder tumors are at stake in all cases. The given clinical observation describes paraneoplastic manifestations in high-grade urothelial carcinoma of the kidney. It demonstrates difficulties in differential diagnosis and gives a retrospective estimate of diagnostic and therapeutic tactics.

  15. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    Science.gov (United States)

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  16. Premenstrual syndrome and premenstrual dysphoric disorder: definitions and diagnosis.

    Science.gov (United States)

    Freeman, Ellen W

    2003-08-01

    Because of the prevalence, chronicity and distress caused by premenstrual symptoms (PMS), diagnosis and effective treatments are important information for clinicians. The DSM-IV requires at least five specified symptoms for premenstrual dysphoric disorder (PMDD), a severe dysphoric form of PMS, while the ICD-10 requires only one distressing symptom for a diagnosis of PMS. Many women who seek treatment fall between these two diagnostic approaches, and standard diagnostic criteria for clinically significant PMS are needed. A diagnosis of PMS consists of determining the timing of the symptoms in relation to menses, meaningful change between post- and premenstrual symptom severity and a clinically significant severity of the symptoms. A differential diagnosis to distinguish PMS from other medical and psychiatric conditions is important for appropriate treatment. No hormone or laboratory test indicates a PMS diagnosis. The current diagnostic standard requires confirmation of subjective symptom reports by prospective daily diaries. Diagnostic criteria for PMS must recognize the broad range of symptoms, the temporal pattern of the symptoms and the critical issue of symptom severity, which differentiates clinically significant PMS from normal menstrual cycle changes.

  17. Multivariable Discriminant Analysis for the Differential Diagnosis of Microcytic Anemia

    Directory of Open Access Journals (Sweden)

    Eloísa Urrechaga

    2013-01-01

    Full Text Available Introduction. Iron deficiency anemia and thalassemia are the most common causes of microcytic anemia. Powerful statistical computer programming enables sensitive discriminant analyses to aid in the diagnosis. We aimed at investigating the performance of the multiple discriminant analysis (MDA to the differential diagnosis of microcytic anemia. Methods. The training group was composed of 200 β-thalassemia carriers, 65 α-thalassemia carriers, 170 iron deficiency anemia (IDA, and 45 mixed cases of thalassemia and acute phase response or iron deficiency. A set of potential predictor parameters that could detect differences among groups were selected: Red Blood Cells (RBC, hemoglobin (Hb, mean cell volume (MCV, mean cell hemoglobin (MCH, and RBC distribution width (RDW. The functions obtained with MDA analysis were applied to a set of 628 consecutive patients with microcytic anemia. Results. For classifying patients into two groups (genetic anemia and acquired anemia, only one function was needed; 87.9% β-thalassemia carriers, and 83.3% α-thalassemia carriers, and 72.1% in the mixed group were correctly classified. Conclusion. Linear discriminant functions based on hemogram data can aid in differentiating between IDA and thalassemia, so samples can be efficiently selected for further analysis to confirm the presence of genetic anemia.

  18. Abdominal Cocoon Syndrome (Idiopathic Sclerosing Encapsulating Peritonitis: How Easy Is Its Diagnosis Preoperatively? A Case Report

    Directory of Open Access Journals (Sweden)

    Julius A. A. Awe

    2013-01-01

    Full Text Available The abdominal cocoon syndrome (or idiopathic encapsulating peritonitis is a rare cause of intestinal obstruction. It has been reported predominantly in adolescent girls living in tropical/subtropical region in which diagnosis is only made at laparotomy in most cases. The cause and pathogenesis of the condition have not been elucidated. Prolonged administration of practalol, meconium peritonitis, and tuberculous infection of the female genital tract have been incriminated as possible causes. The author reports a case of a female patient with recurrent intestinal obstruction treated for years but failed to settle down on conservative treatment during her last hospital admission and had to undergo surgery. Preoperative diagnosis of this syndrome as the cause of her intestinal obstruction was not made until at laparotomy, when a thick fibrotic peritoneal wrapping of the bowel in a concertina-like fashion with some adhesions was found. Excision of this membrane and adhesiolysis were carried out without any need for bowel resection, and this led to relief of the obstruction and patient’s complete recovery. Awareness of this benign condition in the differential diagnosis of intestinal obstruction will result in early diagnosis and correct management and prevent unnecessary bowel resections and bad outcomes.

  19. MRI versus CT in the diagnosis of Nelson's syndrome

    International Nuclear Information System (INIS)

    Kasperlik-Zaluska, A.; Walecki, J.; Brzezinski, J.; Jeske, W.; Migdalska, B.; Bonicki, W.; Brzezinska, A.; Makowska, A.

    1997-01-01

    The purpose of the study was to evaluate the utility of MRI and CT in the diagnosis of Nelson's syndrome, i. e. pituitary tumours in patients bilaterally adrenalectomized for Cushing's disease. Thirteen patients, followed up for 5-29 years after adrenalectomy, were studied. In 6 of them CT and MRI revealed no changes in the pituitary gland. In the remaining 7 patients only three CT scans were suggestive of a pituitary adenoma. MRI studies with administration of gadodiamide confirmed the CT diagnosis of Nelson's tumour in 3 patients and disclosed microadenomas in a further 4 patients. Neurosurgical treatment in 4 patients confirmed the MRI findings. Additionally CT and MRI examinations were performed in 5 patients suspected of a recurrent Nelson's tumour 3-11 years after neurosurgery. MRI visualized recurrent adenomas in 3 patients that were not well seen by CT scans. In our experience MRI was more effective than CT in the diagnosis of Nelson's syndrome. (orig.). With 3 figs., 1 tab

  20. Diagnosis and therapy of Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Bachmann, R.; Strunk, H.; Hofer, U.; Schild, H.; Brensing, K.A.

    1998-01-01

    Purpose: Budd-Chiari syndrome is a fairly uncommon disease in Europe. This often leads to its late diagnosis. The syndrome is characterised by portal hypertension and splanchnic congestion due to obstruction of hepatic venous outflow. This paper describes the treatment of three patients with Budd-Chiari syndrome by interventional therapeutic techniques and discusses alternative treatment modalities. Patients and Methods: The first patient presented with veno-occlusive disease and was treated by the placement of a transjugular intrahepatic portosystemic stentshunt. The second patient showed an occlusion of the major hepatic veins. After percutaneous recanalisation, a stent was placed in the right hepatic vein which remained patent. The third patient had a membranous obstruction of the right hepatic vein which was treated by percutaneous balloon dilatation. Results: In all patients the clinical symptoms resolved completely after treatment and no complications were encountered. Conclusions: The authors conclude that interventional therapeutic techniques offer a wide variety of possibilities for the treatment of patients with Budd-Chiari syndrome and are safe, effective and relatively inexpensive. However, further studies are required to assess the long-term results and survival rates of these patients. (orig.) [de

  1. Differential diagnosis of vertigo and dizziness in the emergency department.

    Science.gov (United States)

    Ozono, Yoshiyuki; Kitahara, Tadashi; Fukushima, Munehisa; Michiba, Takahiro; Imai, Ryusuke; Tomiyama, Youichirou; Nishiike, Suetaka; Inohara, Hidenori; Morita, Hisaki

    2014-02-01

    To establish a system of differential diagnosis for vertigo/dizziness at the Emergency Department (ED), careful history-taking of complications and examinations of nystagmus should be helpful and therefore prepared by ED staff. Vertigo/dizziness could come from various kinds of organs for equilibrium, sometimes resulting in an emergency due to the central origin. In the present study, we checked patients' background data at the ED in advance of a definitive diagnosis at the Department of Otolaryngology and examined the significance of the correlation between the data and the diagnosis. We studied a series of 120 patients with vertigo/dizziness, who visited the Departments of Emergency and Otolaryngology between April 2011 and March 2012. At the ED, we first checked patients' backgrounds and carried out neurologic and neuro-otologic examinations. At the Department of Otolaryngology, we finally diagnosed all the patients according to the criteria and classified the origins of vertigo/dizziness into central and non-central diseases. The ratio of patients with disease of central origin was 12.5% and that for non-central origin was 87.5%. The risk factors for cerebrovascular disease such as hypertension, heart disease, and diabetes were also the risk factors for central vertigo/dizziness by the chi-squared test. To predict a central origin for vertigo/dizziness, only gaze nystagmus was the significant factor by multivariate regression analysis.

  2. Review of differential diagnosis and management of spasmodic dysphonia.

    Science.gov (United States)

    Whurr, Renata; Lorch, Marjorie

    2016-06-01

    The recent literature on spasmodic dysphonia is reviewed with regard to pathogenesis, differential diagnosis, treatment options, audits, and current methods of management. Advances in technology have enabled clinicians to better understand the connection between brain and laryngeal function and dysfunction. Refinements in imaging and genetic investigation techniques have led to advances in the understanding of the underlying mechanism of this neurolaryngeal disorder. Development of diagnostic assessment tools and measures of quality of life hold the potential to improve treatment and care. Fifty articles published between 2014 and 2015 were selected for this review. The sources were drawn from several clinical specialties: 54% come under the scope of laryngology, 32% from neurology, and 14% from other areas. It remains poorly understood, misdiagnosed, and underdiagnosed. Its identification, diagnosis, treatment selection, and coordination of care require an expert specialist multidisciplinary team. More training is required to help people who have this chronic and psychosocially disabling voice disorder, which impinges on all aspects of their lives. Spasmodic dysphonia is now classified as a 'rare' disease in the United States. This designation will assist in international standards of diagnosis, assessment, treatment, and management.

  3. Microscopic colitis - a missed diagnosis in diarrhea-predominant irritable bowel syndrome.

    Science.gov (United States)

    Stoicescu, Adriana; Becheanu, Gabriel; Dumbrava, Mona; Gheorghe, Cristian; Diculescu, Mircea

    2012-01-01

    Clinical presentation in microscopic colitis (MC) is similar in many cases to that of diarrhea-predominent irritable bowel syndrome (IBS-D). The proper differential diagnosis requires total colonoscopy with multiple biopsies from normal-appearing mucosa and a detailed histopathological exam. Specific treatment may improve symptomatology. To evaluate the prevalence of MC in patients with an initial diagnosis of IBS-D, to analyse demographic and clinical features of MC patients and to assess the efficacy of specific treatment. Our retrospective study analyzed patients diagnosed with microscopic colitis in clinic during a three-year period. Diagnosis was established on histological exams of the samples obtained during colonoscopy in patients previously thought to have IBS-D. We evaluated clinical manifestations, time lapsed from their onset to definitive diagnosis, the association of MC with autoimmune diseases or with prior medication and the efficacy of treatment with budesonide or mesalazine. From 247 patients considered to have IBS-D, 15 patients (6.07%) had actually MC (13 lymphocytic colitis and 2 collagenous colitis). MC was associated with nonsteroidal antiinflammatory drugs (3 patients), Lansoprazole (2 patients) and autoimmune diseases (6 patients). Watery, non-bloody diarrhea was present in all patients with MC. Other frequent complaints were nocturnal diarrhea (11 patients), abdominal pain (8 patients), abdominal bloating and flatulence (8 patients) and slight weight loss (6 patients). The diagnostic samples were obtained from the right colon in 6 cases and from rectosigmoid or transverse colon in 9 patients. Treatment was initial symptomatic in all patients, but there were 5 patients that required mesalazine and/or Budesonide, with favourable outcome. All the patients thought to have diarrhea-irritable bowel syndrome should be evaluated for microscopic colitis. Symptomatology is almost superimposable, but a few distinct features can be noticed. The proper

  4. Gorlin-Goltz Syndrome: Diagnosis and Treatment Options

    Directory of Open Access Journals (Sweden)

    João Mendes-Abreu

    2017-05-01

    Full Text Available The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. After establishing the diagnosis, given the identification of three major criteria, the treatment consisted in the excision of the lesions followed, in one case, with vismodegib treatment resulting in complete remission. Gorlin-Goltz syndrome is therefore a multidisciplinary challenge, whose variable morbidity and high risk of recurrence make treatment and surveillance critical. However, new molecular targeted therapies have brought a new hope in treating these patients.

  5. [Gorlin-Goltz Syndrome: Diagnosis and Treatment Options].

    Science.gov (United States)

    Mendes-Abreu, João; Pinto-Gouveia, Miguel; Tavares-Ferreira, Cátia; Brinca, Ana; Vieira, Ricardo

    2017-05-31

    The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. After establishing the diagnosis, given the identification of three major criteria, the treatment consisted in the excision of the lesions followed, in one case, with vismodegib treatment resulting in complete remission. Gorlin-Goltz syndrome is therefore a multidisciplinary challenge, whose variable morbidity and high risk of recurrence make treatment and surveillance critical. However, new molecular targeted therapies have brought a new hope in treating these patients.

  6. Epidemiology, diagnosis, and management of polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Sirmans SM

    2013-12-01

    Full Text Available Susan M Sirmans, Kristen A PateDepartment of Clinical and Administrative Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA, USAAbstract: Polycystic ovary syndrome (PCOS is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%–70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications.Keywords: polycystic ovary syndrome

  7. Differential diagnosis of CNS angiostrongyliasis: a short review.

    Science.gov (United States)

    Senthong, Vichai; Chindaprasirt, Jarin; Sawanyawisuth, Kittisak

    2013-06-01

    The diagnostic criterion for eosinophilic meningitis (EOM) is the identification of an absolute count of 10 eosinophils per ml or more than 10% of the total white blood cells in the cerebrospinal fluid (CSF) in the proper clinical context. The most common cause of EOM is Angiostrongylus cantonensis infection, termed meningitic angiostrongyliasis (MA). Neurognathostomiasis (NG) is the main parasitic disease in the differential diagnosis of meningitic angiostrongyliasis. This short review is based on articles published on Medline between 2000 and 2012 related to EOM. There are three main approaches that can be used to differentiate between MA and NG, involving clinical factors, history of larval exposure, and serological tests. MA patients presented with acute severe headache but without neurological deficit, combined with a history of eating uncooked snails or slugs. NG patients always presented with motor weakness, migratory swelling, radicular pain and had history of eating uncooked poultry or fish. Specific antigenic bands in immunoblot tests are helpful tools to differentiate the two diseases. Other causes of eosinophilic meningitis are neurocysticercosis, cerebral paragonimiasis, Toxoplasma canis, Baylisascaris, tuberculous meningitis, and cryptococcal meningitis.

  8. Diagnosis of the syndrome of inappropriate secretion of antidiuretic hormone

    DEFF Research Database (Denmark)

    Holm, Ellen Astrid; Bie, Peter; Ottesen, Michael

    2009-01-01

    BACKGROUND: Hyponatremia is a frequent condition in elderly patients. In diagnostic workup, a 24-hour urine sample is used to measure urinary osmolality and urinary sodium concentration necessary to confirm the diagnosis of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH...... natriuretic peptides, renin, and aldosterone were measured in the supine and upright positions of patients and compared with nine healthy age-matched control patients. RESULTS: The patients had low plasma osmolality (median 266 mOsm/kg) and measurable levels of arginine vasopressin (median 1.8 pg/mL). Values...

  9. Birt-Hogg-Dube syndrome: diagnosis and management

    DEFF Research Database (Denmark)

    Menko, F.H.; Steensel, M.A. van; Giraud, S.

    2009-01-01

    Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein...... is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive...

  10. Diagnosis and Management of Budd Chiari Syndrome: An Update

    International Nuclear Information System (INIS)

    Copelan, Alexander; Remer, Erick M.; Sands, Mark; Nghiem, Hanh; Kapoor, Baljendra

    2015-01-01

    Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management

  11. Diagnosis and Management of Budd Chiari Syndrome: An Update

    Energy Technology Data Exchange (ETDEWEB)

    Copelan, Alexander, E-mail: alexander.copelan@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Remer, Erick M., E-mail: remere1@ccf.org; Sands, Mark, E-mail: sandsm@ccf.org [Cleveland Clinic, Imaging Institute (United States); Nghiem, Hanh, E-mail: HNghiem@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Kapoor, Baljendra, E-mail: kapoorb@ccf.org [Cleveland Clinic, Imaging Institute (United States)

    2015-02-15

    Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management.

  12. Hand-arm vibration syndrome: A rarely seen diagnosis.

    Science.gov (United States)

    Campbell, Rebecca A; Janko, Matthew R; Hacker, Robert I

    2017-06-01

    Hand-arm vibration syndrome (HAVS) is a collection of sensory, vascular, and musculoskeletal symptoms caused by repetitive trauma from vibration. This case report demonstrates how to diagnose HAVS on the basis of history, physical examination, and vascular imaging and its treatment options. A 41-year-old man who regularly used vibrating tools presented with nonhealing wounds on his right thumb and third digit. Arteriography revealed occlusions of multiple arteries in his hand with formation of collaterals. We diagnosed HAVS, and his wounds healed after several weeks with appropriate treatment. HAVS is a debilitating condition with often irreversible vascular damage, requiring early diagnosis and treatment.

  13. Hand-arm vibration syndrome: A rarely seen diagnosis

    Directory of Open Access Journals (Sweden)

    Rebecca A. Campbell, BA

    2017-06-01

    Full Text Available Hand-arm vibration syndrome (HAVS is a collection of sensory, vascular, and musculoskeletal symptoms caused by repetitive trauma from vibration. This case report demonstrates how to diagnose HAVS on the basis of history, physical examination, and vascular imaging and its treatment options. A 41-year-old man who regularly used vibrating tools presented with nonhealing wounds on his right thumb and third digit. Arteriography revealed occlusions of multiple arteries in his hand with formation of collaterals. We diagnosed HAVS, and his wounds healed after several weeks with appropriate treatment. HAVS is a debilitating condition with often irreversible vascular damage, requiring early diagnosis and treatment.

  14. Cushing′s syndrome: Stepwise approach to diagnosis

    Directory of Open Access Journals (Sweden)

    Anurag R Lila

    2011-01-01

    Full Text Available The projected prevalence of Cushing′s syndrome (CS inclusive of subclinical cases in the adult population ranges from 0.2-2% and it may no longer be considered as an orphan disease (2-3 cases/million/year. The recognition of CS by physicians is important for early diagnosis and treatment. Late-night salivary cortisol, dexamethasone suppressiontesti, or 24-h urine free cortisol are good screening tests. Positively screened cases need stepwise evaluation by an endocrinologist. This paper discusses the importance of screening for CS and suggests a stepwise diagnostic approach to a case of suspected hypercortisolism.

  15. Cushing syndrome: update on testing.

    Science.gov (United States)

    Raff, Hershel

    2015-03-01

    Endogenous hypercortisolism (Cushing syndrome) is one of the most enigmatic diseases in clinical medicine. The diagnosis and differential diagnosis of Cushing syndrome depend on proper laboratory evaluation. In this review, an update is provided on selected critical issues in the diagnosis and differential diagnosis of Cushing syndrome: the use of late-night salivary cortisol in initial diagnosis and for postoperative surveillance, and the use of prolactin measurement to improve the performance of inferior petrosal sinus sampling to distinguish Cushing disease from ectopic adrenocorticotropic hormone (ACTH) syndrome during differential diagnosis of ACTH-dependent Cushing syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Meckel-Gruber Syndrome: Autopsy Based Approach to Diagnosis

    Directory of Open Access Journals (Sweden)

    Asaranti Kar

    2016-01-01

    Full Text Available Meckel-Gruber syndrome (MGS is a rare lethal congenital malformation affecting 1 in 13,250-140,000 live births. The classical diagnostic triad comprises multicystic dysplastic kidneys, occipital encephalocele, and postaxial polydactyly. It can variably be associated with other malformations such as cleft lip and palate, pulmonary hypoplasia, hepatic fibrosis, and anomalies of central nervous system. A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly, microphthalmia, hypertelorism, cleft lip and palate, neonatal teeth, and the right side club foot which were detected only after doing autopsy. This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death, especially where the antenatal diagnosis has not been made previously. A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.

  17. Diagnosis and Treatment of Polycystic Ovary Syndrome in Pediatric Gynaecology

    Directory of Open Access Journals (Sweden)

    М.Yu. Serhiienko

    2015-03-01

    Full Text Available Diagnosis of polycystic ovary syndrome (PCOS in adolescence still raises many questions. The problem is that the characteristics of normal puberty often coincide with PCOS symptoms, so a number of researchers suggest to apply more stringent requirements to diagnosing. We use a cautious approach to a final diagnosis of PCOS because of its interpretation as a global problem of somatic health — endocrine and metabolic status, cardiovascular and oncogenic risk. In addition, one of the main therapies for PCOS is application of combined oral contraceptives, which are undesirable to use in adolescent girls with oligo- and amenorrhea without careful examination and use of all the abilities of vitamine therapy, phytotherapy and gestagens.

  18. Transient Neonatal Diabetes Associated with Chromosome 6Q24 Imprinting Abnormalities Part 4. Differential Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    O.Ye. Abaturov

    2016-04-01

    Full Text Available The article presents the differential diagnosis of diseases that occur with neonatal hyperglycemia. The common causes of neonatal hypoglycemia, variants of its combination with clinical manifestations from the various organs and systems are indicated. There was presented an algorithm for the choice of therapeutic measures in transient neonatal diabetes mellitus (TNDM. The features of diet in newborns, insulin therapy and other directions of drug treatment were described. There was provided the information about medical funds of this syndrome, which can be used in the organization of the diagnosis and treatment in children with 6q24-TNDM.

  19. Magnetic resonance tomography of the breast. Diagnosis, differential diagnosis, problems and solutions. Pt. 2. Diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Kaiser, W.; Zeitler, E.

    1986-05-01

    Eighty-five MR examinations were carried out on both breasts of 72 patients. A special surface coil was used. The results were compared with the findings of mammography and with the post-operative findings. There were 16 fibrocystic mastopathies, seven isolated cysts, 22 fibro-adenomas and 25 carcinomas. Differentiation between fibro-adenomas and carcinomas is only possible on the basis of morphological criteria. Cysts and fibrocystic mastopathies can be identified with certainty. Typical patterns of the various pathological conditions are described, but these will have to be confirmed by the study of a larger number of patients, in order to make them statistically significant. The advantage of MR consists in the simultaneous demonstration of the thoracic wall and the axilla.

  20. Diagnosis value of parotid sialography in Sjogren's syndrome

    International Nuclear Information System (INIS)

    Zheng Guo; Zhang Xue; Liu Rongxin; Wang Yali; Zhong Zhicheng; Wang Haiwen

    2006-01-01

    Objective: To study the diagnosis value of parotid sialography in Sjogren's syndrome (SS). Methods: Two hundred and two cases were chosen in the study, 149 cases were SS, 14 cases were chronic parotitis, 2 were parotid benign hypertrophy, and 37 cases were normal. The international classification criteria (2002) for primary Sjogren's syndrome was used to perform the diagnostic test of parotid sialography. Results: In SS, the incidence rate of pathdogical changes of the twiggy canula is the highest (80.20%, 239/298 side), pathological changes of the main canula showed rough fringe(28.19%, 84/298 side), or canula cavity ectasia but not rough fringe(13.09%, 39/298 side), and also can showed mix form of the two kinds of pathological changes, but not often(2.68%, 8/298 side). The branch canula resembled as the main canula in the pathological changes, but observation effect was affected by extensive degree of the twiggy canula in the pathological changes. 0 stage to V stage was seen in SS, the cases with different stage changes in bilateral side were occupied 25.98% (33/127 side). Chronic parotitis had twiggy canula expansion (7/28 side), branch canula expansion (10/28 side), main canula expandsion (11/28 side), but had not the sign of rough fringe. Others of non-SS had no canula pathological changes. Results of the diagnostic test: diagnosis specificity of the branch canula or the main canula rough fringe was 100%, and sensitivity of the twiggy canula expansion and Youden's index were the highest. Conclusion: To diagnose SS as the pathological changes of parotid canula, the twiggy canula expansion was perfect filtration diagnosis criteria, the branch canula and the main canula rough fringe was certain diagnosis criteria. The value of parotid sialography in SS were affected by the form of canula pathological changes and whether two sides examined at the same time. (authors)

  1. Anti-mullerian hormon level and polycystic ovarian syndrome diagnosis

    Directory of Open Access Journals (Sweden)

    Shahrzad Zadehmodarres

    2015-03-01

    Full Text Available Background: Polycystic ovarian syndrome (PCOS is a common endocrinopathy that accompanied with long term complications. The early diagnosis of this syndrome can prevent it. Objective: The aim was to determine the role of anti-mullerian hormon (AMH in PCOS diagnosis and to find cut off level of it. Materials and Methods: In this cross sectional study, 117 women between 20-40 years old were participated in two groups: 60 PCOS women (based on Rotterdam criteria consensus as the case group and 57 normal ovulatory women as the control group. In day 2-4 of cycle, transvaginal sonography was performed and serum hormonal level of AMH, luteinizing hormone (LH, follicle stimulating hormone (FSH, estradiol (E2, testosterone, fasting blood sugar (FBS, thyroid stimulating hormone (TSH, and prolactin (PRL were measured in all of participants. For all of them score of hirsutism (base on Freeman-Galloway scoring was determined. Results: There were statistically significant in irregular pattern of menstruation, AMH and FSH level, and presence of hirsutism between two groups. But regarding mean of age, body mass index, plasma level of PRL, TSH, LH, Testosterone, FBS, and E2 differences were not significant. Construction by ROC curve present 3.15 ng/ml as AMH cut off with 70.37% sensitivity and 77.36% specificity in order to PCOS diagnosis. Conclusion: AMH with cut off level of 3.15 ng/ml with sensitivity 70.37% and specificity 77.36% could use for early diagnosis of PCOS patients.

  2. The CT diagnosis and differential diagnosis of malignant tumours of the paranasal sinuses

    International Nuclear Information System (INIS)

    Graber, H.R.; Zaunbauer, W.; Haertel, M.

    1986-01-01

    The CT appearances of malignant tumours of the paranasal sinuses are illustrated on the basis of 15 patients, and the differential diagnosis discussed. Malignant soft tissue tumours in the paranasal sinuses are characterised on CT by their non-homogeneous structure; they may destroy the bony margins of the sinus and infiltrate neighbouring regions in certain preferred directions, and they may enhance following the administration of contrast. Precise definition of the malignant tumour by CT permits their exact staging, may help to determine therapy and is valuable for serial observation. It remains to be seen, however, whether the improved radiological diagnosis results in improved prognosis of malignant tumours of the paranasal sinuses. (orig.) [de

  3. Tissue characterization and differential diagnosis by means of NMR

    International Nuclear Information System (INIS)

    Iio, M.

    1986-01-01

    MRI is beginning to play an important role in both anatomical and chemical imagings. The University of Tokyo became engaged in NMR evaluation in 1982 using 3 different Japenese made resistive machine of 0.15T. Currently 6 universities and 4 hospitals and research institutes in Japan are investigating these attractive modalities. The first superconductive machine (Magnetom) has been in operation with magnetic field of 0.35T since February 1984 and is now being replaced by 2.0T Magnet to produce a 1.5T field for anantomical imaging and chemical spectroscopy of the human body. Several clinical cases are presented to indicate the MRI capability for better tissue characterization and differential diagnosis. Low grade glioma is frequently difficult to be enhanced by conventional X-CT; however these lesions are clearly separated by MRI. The ability to characterize another tissue is seen in the case of a hematoma

  4. Differential diagnosis of depression: relevance of positron emission tomography

    International Nuclear Information System (INIS)

    Schwartz, J.M.; Baxter, L.R. Jr.; Mazziotta, J.C.; Gerner, R.H.; Phelps, M.E.

    1987-01-01

    The proper differential diagnosis of depression is important. A large body of research supports the division of depressive illness into bipolar and unipolar subtypes with respect to demographics, genetics, treatment response, and neurochemical mechanisms. Optimal treatment is different for unipolar and bipolar depressions. Treating a patient with bipolar depression as one would a unipolar patient may precipitate a serious manic episode or possibly even permanent rapid cycling disorder. The clinical distinction between these disorders, while sometimes difficult, can often be achieved through an increased diagnostic suspicion concerning a personal or family history of mania. Positron emission tomography and the FDG method, which allow in vivo study of the glucose metabolic rates for discrete cerebral structures, provide new evidence that bipolar and unipolar depression are two different disorders

  5. Mixed periapical lesion: differential diagnosis of a case.

    Science.gov (United States)

    Krithika, C; Kota, S; Gopal, K S; Koteeswaran, D

    2011-03-01

    A radicular cyst associated with carious teeth is a very common odontogenic lesion in the oral cavity, but calcifications in residual radicular cysts are quite rare. We report one such case where a routine pre-implant radiographic assessment revealed a mixed periapical radiopaque radiolucent lesion in the right maxillary central incisor region. Histological and radiographic studies show that there is a slow increase in the mineralized deposits within the cyst lumen with time. This becomes prominent histochemically in cysts more than 8 years old and radiographically 6 years later, as seen in our case. In this paper we would like to highlight the importance of a residual radicular cyst with calcifications in the differential diagnosis of a mixed periapical radiopaque radiolucent lesion.

  6. Ewing sarcoma versus osteomyelitis: differential diagnosis with magnetic resonance imaging

    International Nuclear Information System (INIS)

    Henninger, B.; Glodny, B.; Rudisch, A.; Trieb, T.; Loizides, A.; Judmaier, W.; Schocke, M.F.; Putzer, D.

    2013-01-01

    To find and evaluate characteristic magnetic resonance imaging (MRI) patterns for the differentiation between Ewing sarcoma and osteomyelitis. We identified 28 consecutive patients referred to our department for MRI (1.5 T) of an unclear bone lesion with clinical symptoms suggestive of Ewing sarcoma or osteomyelitis. MRI scans were re-evaluated by two experienced radiologists, typical MR imaging features were documented and a diagnostic decision between Ewing sarcoma and osteomyelitis was made. Statistical significance of the association between MRI features and the biopsy-based diagnosis was assessed using Fisher's exact test. The most clear-cut pattern for determining the correct diagnosis was the presence of a sharp and defined margin of the bone lesion, which was found in all patients with Ewing sarcoma, but in none of the patients with osteomyelitis (P < 0.0001). Contrast enhancing soft tissue was present in all cases with Ewing sarcoma and absent in 4 patients with osteomyelitis (P = 0.0103). Cortical destruction was found in all patients with Ewing sarcoma, 4 patients with osteomyelitis did not present any cortical reaction (P = 0.0103). Cystic or necrotic areas were identified in 13 patients with Ewing sarcoma and in 1 patient with osteomyelitis (P = 0.004). Interobserver reliability was very good (kappa = 1) in Ewing sarcoma and moderate (kappa = 0.6) in patients with osteomyelitis. A sharp and defined margin, optimally visualized on T1-weighted images in comparison to short tau inversion recovery (STIR) images, is the most significant feature of Ewing sarcoma in differentiating from osteomyelitis. (orig.)

  7. Epidemiology, diagnosis, and management of polycystic ovary syndrome

    Science.gov (United States)

    Sirmans, Susan M; Pate, Kristen A

    2014-01-01

    Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%–70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications. PMID:24379699

  8. Epidemiology, diagnosis, and management of polycystic ovary syndrome.

    Science.gov (United States)

    Sirmans, Susan M; Pate, Kristen A

    2013-12-18

    Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%-20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%-70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications.

  9. CASE OF THE LATE DIAGNOSIS OF POEMS-SYNDROME

    Directory of Open Access Journals (Sweden)

    P. N. Barlamov

    2014-07-01

    Full Text Available POEMS-syndrome (P — polyneuropathy, O — organomegaly, E — endocrinopathy, M — M-protein, S — skin in 64-year old patient isdescribed in the article. The clinical picture was marked by such symptoms, as polyneuropathy, multiple myeloma, organomegaly (hepatosplenomegaly, endocrinopathy (diabetes, skin changes (redness and induration of the dermis in the neck, fever, hypoproteinemia, edema, weight loss, thrombocytosis. Bone-destructive syndrome was absent. In myelogram 18 % of the cells with signs of some plasmatic anaplasia were found. In blood, low level of paraprotein secretion Aλ, increased β2-microglobulin was fixed. A course of therapy with prednisolone and alkeranom was accompanied by slight positive effect. However, a second course was interrupted in the third day due to worsening of concomitant cardiac disease (ischemic heart disease in combination with hypertension. Last episode of recurrent of pulmonary edema occurred fatal. Autopsy study was not conducted. This observation illustrates the need for more rigorous examination (myelogram, immunochemical study of blood and urine in the presence of clinical signs of POEMS-syndrome for the timely diagnosis of the underlying disease and its treatment.

  10. CASE OF THE LATE DIAGNOSIS OF POEMS-SYNDROME

    Directory of Open Access Journals (Sweden)

    P. N. Barlamov

    2011-01-01

    Full Text Available POEMS-syndrome (P — polyneuropathy, O — organomegaly, E — endocrinopathy, M — M-protein, S — skin in 64-year old patient isdescribed in the article. The clinical picture was marked by such symptoms, as polyneuropathy, multiple myeloma, organomegaly (hepatosplenomegaly, endocrinopathy (diabetes, skin changes (redness and induration of the dermis in the neck, fever, hypoproteinemia, edema, weight loss, thrombocytosis. Bone-destructive syndrome was absent. In myelogram 18 % of the cells with signs of some plasmatic anaplasia were found. In blood, low level of paraprotein secretion Aλ, increased β2-microglobulin was fixed. A course of therapy with prednisolone and alkeranom was accompanied by slight positive effect. However, a second course was interrupted in the third day due to worsening of concomitant cardiac disease (ischemic heart disease in combination with hypertension. Last episode of recurrent of pulmonary edema occurred fatal. Autopsy study was not conducted. This observation illustrates the need for more rigorous examination (myelogram, immunochemical study of blood and urine in the presence of clinical signs of POEMS-syndrome for the timely diagnosis of the underlying disease and its treatment.

  11. CT findings and differential diagnosis of cystic neck masses

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Ji Yeon; Lee, Kil Jun; Jeong, Seong Ki; Han, Seong Nim; Tae, Seok; Shin, Kyoung Ja; Lee, Sang Chun [Seoul Red Cross Hospital, Seoul (Korea, Republic of)

    1995-10-15

    The purpose of this study is to analyze the CT features of the cystic masses in the neck and to review differential diagnosis. We retrospectively reviewed and analyzed the CT findings of 22 histopathologically proved, cystic neck masses in regard to the location in fascial plane and relationship with adjacent organ. Of 22 cases, ten congenital cysts two ranulas, seven inflammatory lesions, and three solid tumors were included. Ten congenital cystic masses were located in typical locations as branchial cleft cyst (5) in mandibular angle, thyroglossal duct cyst (3) in visceral space embeded within the strap muscles, cystic hygroma (1) and cavernous hemangioma (1) in posterior cervical space with insinuating appearance. Two cases of ranula included one simple ranula localized in sublingual space and a plunging ranula extending to adjacent submandibular space. Seven cases of inflammatory lesions were characterized by multispatial locations and good contrast-enhancement of walls and adjacent tissue. Solid masses of low density mimicking cyst were two pleomorphic adenomas of submandibular gland and one neurilemmoma. It is considered that thorough analysis of the CT findings with attention to typical location, CT appearance, and the relationship with the adjacent structures usually leads to the correct diagnosis.

  12. Diagnosis and management of differentiated thyroid cancer using molecular biology.

    Science.gov (United States)

    Witt, Robert L; Ferris, Robert L; Pribitkin, Edmund A; Sherman, Steven I; Steward, David L; Nikiforov, Yuri E

    2013-04-01

    To define molecular biology in clinical practice for diagnosis, surgical management, and prognostication of differentiated thyroid cancer. Ovid Medline 2006-2012 Manuscripts with clinical correlates. Papillary thyroid carcinomas harbor point mutations of the BRAF and RAS genes or RET/PTC rearrangements, all of which activate the mitogen-activated protein kinase pathway. These mutually exclusive mutations are found in 70% of PTC. BRAF mutation is found in 45% of papillary thyroid cancer and is highly specific. Follicular carcinomas are known to harbor RAS mutation or PAX8/PPARγ rearrangement. These mutations are also mutually exclusive and identified in 70% of follicular carcinomas. Molecular classifiers measure the expression of a large number of genes on a microarray chip providing a substantial negative predictive value pending further validation. 1) 20% to 30% of cytologically classified Follicular Neoplasms and Follicular Lesion of Undetermined Significance collectively are malignant on final pathology. Approximately 70% to 80% of thyroid lobectomies performed solely for diagnostic purposes are benign. Molecular alteration testing may reduce the number of unnecessary thyroid procedures, 2) may reduce the number of completion thyroidectomies, and 3) may lead to more individualized operative and postoperative management. Molecular testing for BRAF, RAS, RET/PTC, and PAX8/PPARγ for follicular lesion of undetermined significance and follicular neoplasm improve specificity, whereas molecular classifiers may add negative predictive value to fine needle aspiration diagnosis. Copyright © 2013 The American Laryngological, Rhinological, and Otological Society, Inc.

  13. Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes

    Directory of Open Access Journals (Sweden)

    V. P. Fedotov

    2012-01-01

    Full Text Available Hereditary myotonic syndromes (HMS are a group of genetically heterogeneous diseases of the chlorine and sodium ion channels (channelopathies with evident clinical polymorphism and high prevalence in the population. The differential diagnosis of early‑stage NMS poses a challenge to clinicians to this day. The investigation has attempted to elaborate informative differentiating criteria on the basis of a clinical and electromyographic study of 2 groups of patients with hereditary Thomsen or Becker myotonia (n = 45 and myotonic dystrophy type 1 (n = 39 verified by DNA analysis of the CLCN1 and DMPK genes. Along with the clinical symptoms, there may be the value of M‑response amplitude decrement in rhythmic stimulation of the n. ulnaris and the duration of myotonic discharges at pin electromyography of the m. tibialis anterior.

  14. Effective acupuncture practice through diagnosis based on distribution of meridian pathways & related syndromes.

    Science.gov (United States)

    Chen, Yemeng; Zheng, Xin; Li, Hui; Zhang, Qunce; Wang, Tianfang

    2011-01-01

    This article discusses the importance of acupuncture practice utilizing diagnosis and distribution of various meridians and connecting channels based on meridian theory. The meridian system is considered as basic anatomy for acupuncture, so the corresponding pathways and related syndromes of different channels should play a key role in differentiation, known as meridian-related pattern differentiation. Since this doctrine originated in ancient times and was not so well developed in later generations, many acupuncturists are not able to utilize it efficiently. The authors survey how this doctrine was weakened during the past century, especially in acupuncture education for foreigners, and how this important method is currently being reinvigorated. This article also lays out the ways this doctrine can be applied clinically and introduces examples of a variety of indications including some difficult cases, such as whiplash injury, intervertebral disc herniation, oculomotor nerve paralysis, and eczema, etc.

  15. Differential diagnosis of breast lesions using ultrasound elastography

    Directory of Open Access Journals (Sweden)

    Ioana Andreea Gheonea

    2011-01-01

    Full Text Available Context: The recent introduction of elastography has increased the specificity of USG and enabled early diagnosis of breast cancer. Quantitative elastography, especially with strain ratio (SR index, improves diagnostic accuracy and decreased number of biopsies. Aims: The purpose of this study was to assess the role of USG elastography in the differential diagnosis of breast lesions. Settings and Design: This prospective study was conducted in the University of Medicine and Pharmacy Research Centre of Craiova. Materials and Methods: Fifty-eight patients diagnosed with breast lesions between January 2009 and January 2010 were included in this prospective study. All the patients were examined in the supine position, and the B-mode USG image was displayed alongside the elastography strain image. For obtaining the elastography images we used a EUS Hitachi EUB 8500 ultrasound system with a 6.5-MHz linear probe. The elastography strain images were scored according to the Tsukuba elasticity score. Statistical Analysis: We performed receiver operator characteristic (ROC analysis for assessment of the role of USG elastography in the diagnosis of breast lesions. Results: We obtained a sensitivity of 86.7% and a specificity of 92.9% for elasticity score and a sensitivity of 93.3% and a specificity of 92.9% for SR (when a cutoff point of 3.67 was used. There was very good correlation between SR and elasticity score (Spearman coefficient of 0.911. Conclusions: Elastography is a fast, simple method that can complement conventional USG examination. This method has the lowest cost/efficiency ratio and it is also the most noninvasive and accessible imaging method, with an accuracy comparable to MRI.

  16. DNA Differential Diagnosis of Taeniasis and Cysticercosis by Multiplex PCR

    Science.gov (United States)

    Yamasaki, Hiroshi; Allan, James C.; Sato, Marcello Otake; Nakao, Minoru; Sako, Yasuhito; Nakaya, Kazuhiro; Qiu, Dongchuan; Mamuti, Wulamu; Craig, Philip S.; Ito, Akira

    2004-01-01

    Multiplex PCR was established for differential diagnosis of taeniasis and cysticercosis, including their causative agents. For identification of the parasites, multiplex PCR with cytochrome c oxidase subunit 1 gene yielded evident differential products unique for Taenia saginata and Taenia asiatica and for American/African and Asian genotypes of Taenia solium with molecular sizes of 827, 269, 720, and 984 bp, respectively. In the PCR-based detection of tapeworm carriers using fecal samples, the diagnostic markers were detected from 7 of 14 and 4 of 9 T. solium carriers from Guatemala and Indonesia, respectively. Test sensitivity may have been reduced by the length of time (up to 12 years) that samples were stored and/or small sample volumes (ca. 30 to 50 mg). However, the diagnostic markers were detected by nested PCR in five worm carriers from Guatemalan cases that were found to be negative by multiplex PCR. It was noteworthy that a 720 bp-diagnostic marker was detected from a T. solium carrier who was egg-free, implying that it is possible to detect worm carriers and treat before mature gravid proglottids are discharged. In contrast to T. solium carriers, 827-bp markers were detected by multiplex PCR in all T. saginata carriers. The application of the multiplex PCR would be useful not only for surveillance of taeniasis and cysticercosis control but also for the molecular epidemiological survey of these cestode infections. PMID:14766815

  17. An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis.

    Science.gov (United States)

    Minzala, G; Ismail, G

    2016-10-01

    Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome. © The Author(s) 2016.

  18. Harmonizing the diagnosis of metabolic syndrome--focusing on abdominal obesity.

    Science.gov (United States)

    Silva, Valter; Stanton, Kenneth R; Grande, Antonio José

    2013-04-01

    In 2009, important health organizations met to construct a Joint Scientific Statement (JSS) intended to harmonize the diagnosis of metabolic syndrome worldwide. The JSS aimed to unify the diagnostic criteria of metabolic syndrome, particularly in relation to whether to include abdominal obesity as a criterion of diagnosis. A large part of the JSS is devoted to discussing the diagnosis of abdominal obesity. More specifically, 9 of the 16 papers focused on abdominal obesity. Continuing this emphasis, we discuss the harmonization of the diagnosis of metabolic syndrome worldwide, specifically focusing on the need to improve the diagnosis of abdominal obesity.

  19. Making the diagnosis of Sjögren’s syndrome in patients with dry eye

    Science.gov (United States)

    Beckman, Kenneth A; Luchs, Jodi; Milner, Mark S

    2016-01-01

    Sjögren’s syndrome (SS) is a chronic and progressive systemic autoimmune disease that often presents initially with symptoms of dry eye and dry mouth. Symptoms are often nonspecific and develop gradually, making diagnosis difficult. Patients with dry eye complaints warrant a step-wise evaluation for possible SS. Initial evaluation requires establishment of a dry eye diagnosis using a combination of patient questionnaires and objective ocular tests, including inflammatory biomarker testing. Additional work-up using the Schirmer test and tear film break-up time can differentiate between aqueous-deficient dry eye (ADDE) and evaporative dry eye. The presence of ADDE should trigger further work-up to differentiate between SS-ADDE and non-SS-ADDE. There are numerous non-ocular manifestations of SS, and monitoring for SS-related comorbid findings can aid in diagnosis, ideally in collaboration with a rheumatologist. The clinical work-up of SS can involve a variety of tests, including tear function tests, serological tests for autoantibody biomarkers, minor salivary gland and lacrimal gland biopsies. Examination of classic SS biomarkers (SS-A/Ro, SS-B/La, antinuclear antibody, and rheumatoid factor) is a convenient and non-invasive way of evaluating patients for the presence of SS, even years prior to confirmed diagnosis, although not all SS patients will test positive, particularly those with early disease. Recently, newer biomarkers have been identified, including autoantibodies to salivary gland protein-1, parotid secretory protein, and carbonic anhydrase VI, and may allow for earlier diagnosis of SS. A diagnostic test kit is commercially available (Sjö®), incorporating these new biomarkers along with the classic autoantibodies. This advanced test has been shown to identify SS patients who previously tested negative against traditional biomarkers only. All patients with clinically significant ADDE should be considered for serological assessment for SS, given the

  20. Making the diagnosis of Sjögren's syndrome in patients with dry eye.

    Science.gov (United States)

    Beckman, Kenneth A; Luchs, Jodi; Milner, Mark S

    2016-01-01

    Sjögren's syndrome (SS) is a chronic and progressive systemic autoimmune disease that often presents initially with symptoms of dry eye and dry mouth. Symptoms are often nonspecific and develop gradually, making diagnosis difficult. Patients with dry eye complaints warrant a step-wise evaluation for possible SS. Initial evaluation requires establishment of a dry eye diagnosis using a combination of patient questionnaires and objective ocular tests, including inflammatory biomarker testing. Additional work-up using the Schirmer test and tear film break-up time can differentiate between aqueous-deficient dry eye (ADDE) and evaporative dry eye. The presence of ADDE should trigger further work-up to differentiate between SS-ADDE and non-SS-ADDE. There are numerous non-ocular manifestations of SS, and monitoring for SS-related comorbid findings can aid in diagnosis, ideally in collaboration with a rheumatologist. The clinical work-up of SS can involve a variety of tests, including tear function tests, serological tests for autoantibody biomarkers, minor salivary gland and lacrimal gland biopsies. Examination of classic SS biomarkers (SS-A/Ro, SS-B/La, antinuclear antibody, and rheumatoid factor) is a convenient and non-invasive way of evaluating patients for the presence of SS, even years prior to confirmed diagnosis, although not all SS patients will test positive, particularly those with early disease. Recently, newer biomarkers have been identified, including autoantibodies to salivary gland protein-1, parotid secretory protein, and carbonic anhydrase VI, and may allow for earlier diagnosis of SS. A diagnostic test kit is commercially available (Sjö(®)), incorporating these new biomarkers along with the classic autoantibodies. This advanced test has been shown to identify SS patients who previously tested negative against traditional biomarkers only. All patients with clinically significant ADDE should be considered for serological assessment for SS, given the

  1. Histopathological diagnosis and outcome of paediatric nephrotic syndrome

    International Nuclear Information System (INIS)

    Ejaz, I; Khan, H.I.; Javaid, B.K.; Bhatti, M.T.; Rasool, G.

    2004-01-01

    Objective: To determine the histological picture and outcome of treatment in cases of childhood nephrotic syndrome who needed renal biopsy. Subjects and Methods: Children suffering from nephrotic syndrome who had atypical features at presentation were initially or late non-responders; frequent relapsers on > 1 mg kg/day and were steroid dependent or frequently relapsed on < 1 mg kg/day but developed steroid toxicity were included. Renal biopsy was performed in these patients. Treatment was administered according to the histopathology reports. Prednisolone 60 mg /m/sup 2//day followed after response by 40 mg /m/sup /2 on alternate days (AD) which was later tapered off. In minimal change nephrotic syndrome (MCNS) with frequent relapses cyclophosphamide, cyclosporine and levimisole were used. For steroid resistant focal segmental glomerulosclerosis (FSGS) intravenous pulses of methylprednisolone and cyclosporine were also given. These patients were followed to see the response of the therapy. Results: The commonest diagnosis was focal segmental glomerulosclerosis (FSGS) (42%) followed by minimal change disease (MCNS) (22%), membranoproliferative or mesangiocapillary glomerulonephritis (MPGN) (14%) and Mesangioproliferative glomerulonephritis (Mes PGN) (12%). There were 6% cases of membranous nephropathy and 4% of diffuse proliferative glomerulonephritis. On presentation, 40% had hematuria, 20% were found to be hypertensive, 12% patients had renal insufficiency and in 40% C3 level was low. Majority of the patients with MPGN and FSGS had atypical features whereas none of the patients with membranous nephropathy had any of these features. Thirty percent cases each of FSGS and MCNS were responders. Among non-responders there were 4 cases of FSGS and one of MPGN. Conclusion: FSGS was the commonest histology in cases of childhood nephrotic syndrome that needed renal biopsy. Highest frequency of atypical features was seen in MPGN and FSGS. (author)

  2. [Differential diagnosis and treatment of vertigo in hypertensive patients].

    Science.gov (United States)

    Parfenov, V A

    2005-01-01

    To study causes of vertigo in hypertensive patients and specify approaches to its treatment. Material and methods. Prevalence and causes of vertigo were analysed in 285 patients with arterial hypertension (AH). The examination included 24-h monitoring of arterial pressure (APM) and MR-tomography of the head. The majority of patients (78%) hospitalized with the diagnosis "hypertensive crisis" were diagnosed to have other diseases (headaches of tension, stroke, Meniere's syndrome and disease, etc.) the development of which was accompanied with hypertension and simulated a hypertensive crisis. Vertigo occurs in 20% hypertensive patients and is unrelated to elevated blood pressure. It is rather due to associated neurological, peripheral vestibular and other diseases. APM shows that vertigo occurs in hypotension after intake of hypotensive drugs. In hypertensive patients treatment of vertigo should not be directed only to management of elevated pressure but demands treatment of underlying disease. Vertigo plus mnestic disorders are effectively corrected with tanakan in a dose 120-160 mg/day. Vertigo in hypertensive patients is not caused by elevated pressure but related with concomitant neurological or peripheral vestibular diseases as well as hypotension. Hypertensive patients with vertigo need correction of the condition causing it.

  3. Overactive bladder, differential diagnosis, and clinical utility of fesoterodine

    Directory of Open Access Journals (Sweden)

    Wyndaele J-J

    2012-11-01

    Full Text Available Jean-Jacques WyndaeleDepartment of Urology, Antwerp University, Antwerp, BelgiumAbstract: Overactive bladder is a symptom syndrome with urgency, frequency and, in many cases, nocturia. Urge incontinence is not present in all. There is no direct correlation with detrusor overactivity, an objective finding during urodynamic testing where involuntary contractions can be noticed. In the pathophysiology, much more attention has been given to the afferent/sensory arm of the micturition reflex in the last decade. Anatomical and infectious causes have to be diagnosed or ruled out. Diagnosis of overactive bladder is made mostly by history-taking, but other tests can be necessary in specific patients. Treatment consists of behavioral measures, a good explanation of the condition, training, and pelvic floor physiotherapy. Drugs are often used. Until recently, antimuscarinic drugs have been the mainstay of pharmacological therapy. Fesoterodine is a newer antimuscarinic agent which is more pharmacodynamically stable then tolterodine. Fesoterodine has been extensively researched using different dosages and compared with placebo and tolterodine, in different age groups, and under different conditions. Fesoterodine is superior to placebo and to tolterodine in the short term and long term. Its safety is very acceptable.Keywords: overactive bladder, fesoterodine, incontinence, urgency, lower urinary tract

  4. Does Magnetization Transfer Ratio (MTR) contribute to the diagnosis and differential diagnosis of the dementias?

    International Nuclear Information System (INIS)

    Hentschel, F.; Kreis, M.; Damian, M.; Krumm, B.

    2004-01-01

    Purpose: The magnetization transfer ratio (MTR) is a MR-based neuroimaging procedure aiming at the quantification of the structural integrity of brain tissue. Its contribution to the differential diagnosis of dementias was examined and discussed in relation to the pathogenesis of age-related dementias. Materials and Methods: Sixty-one patients from a memory clinic were diagnosed by general physical and neuropsychiatric examination, and underwent neuropsychologic testing and neuroimaging using MRI. Their clinical diagnoses were based on standard operational research criteria. Additionally, the MTR in 10 defined regions of interest (ROI) was determined. This investigation was performed using a T1-weighted SE sequence. Average MTR values were determined in the individual ROI and their combinations and correlated with the age gender, cognitive impairment and clinical diagnosis. Sensitivity, specificity, positive and negative predictive value were determined, as well as the rate of correct classifications. Results: For cognitive healthy subjects, the MRT values correlate only mildly, though significantly, with age in the hippocampus and with gender in the dorsal corpus callosum. In contrast, the MTR in the frontal white matter correlates strongly and highly significantly with cognitive impairment in patients with dementia. The differential diagnostic assignment of Alzheimer's disease versus vascular dementia by MTR provides a correct classification of approximately 50% to 70%. PPV for no dementia vs. vascular dementia or the NPV for vascular vs. Alzheimer's disease are considerably higher exceeding 80%. For no dementia vs. Alzheimer's disease, the NPV was over 90%. (orig.)

  5. Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Silva Daniela M

    2011-09-01

    Full Text Available Abstract Introduction Androgen is a generic term usually applied to describe a group of sex steroid hormones. Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation, triggering the development of the testes and penis in male fetuses, and are directed by the testicular determining factor: the gene SRY (sex determining region on Y chromosome located on the short arm of chromosome Y. The differentiation of male external genitalia (penis, scrotum and penile urethra occurs between the 9th and 13th weeks of pregnancy and requires adequate concentration of testosterone and the conversion of this to another more potent androgen, dihydrotestosterone, through the action of 5α-reductase in target tissues. Case presentation This report describes the case of a teenage girl presenting with a male karyotype, and aims to determine the extension of the mutation that affected the AR gene. A Caucasian girl aged 15 was referred to our laboratory for genetic testing due to primary amenorrhea. Physical examination, karyotype testing and molecular analysis of the androgen receptor were critical in making the correct diagnosis of complete androgen insensitivity syndrome. Conclusions Sex determination and differentiation depend on a cascade of events that begins with the establishment of chromosomal sex at fertilization and ends with sexual maturation at puberty, subsequently leading to fertility. Mutations affecting the AR gene may cause either complete or partial androgen insensitivity syndrome. The case reported here is consistent with complete androgen insensitivity syndrome, misdiagnosed at birth, and consequently our patient was raised both socially and educationally as a female. It is critical that health care providers understand the importance of properly diagnosing a newborn manifesting ambiguous genitalia. Furthermore, a child with a pseudohermaphrodite phenotype should always undergo adequate

  6. Diagnosis of Acute Respiratory Distress Syndrome in Nosocomial Pneumonia

    Directory of Open Access Journals (Sweden)

    A. N. Kuzovlev

    2009-01-01

    Full Text Available Objective: to define the informative value of the parameters of gas exchange, lung volumetry, and central hemodynamics in the diagnosis of acute respiratory distress syndrome (ARDS in nosocomial pneumonia (NP. Subjects and methods. The study included 38 patients with cancer and severe injury who were divided into 3 groups in accordance with the diagnostic criteria of ARDS and NP: 1 patients with ARDS + NP; 2 those with NP; 3 those with non-ARDS, non-PN. ARDS was diagnosed in 2 steps. At Step 1, the investigators took into account risk factors for ARDS and used the lung injury scale developed by J. Murray et al. and the ARDS diagnostic criteria defined by the American-European Consensus Conference on ARDS. At Step 2, after obtaining the data of lung volume-try (1—2 hours after Step 1, they assessed the compliance of the above criteria for ARDS with those developed by the V. A. Negovsky Research Institute of General Reanimatology, Russian Academy of Medical Sciences, and redistributed the patients between the groups. The stage of ARDS was determined in accordance with the classification of the above Institute. All the patients underwent a comprehensive examination the key element of which was to estimate gas exchange parameters and to monitor lung volumetry and central hemodynamics by the transpulmonary thermodilution methods, by using a Pulsion PiCCO Plus monitor (Pulsion Medical Systems, Germany. The findings were statistically analyzed using a Statistica 7.0 package (arithmetic mean, error of the mean, _ Student’s test, Newman-Keuls test, correlation analysis. The difference was considered to be significant if p-value was Results. The patients with ARDS + NP were observed to have a significantly lower oxygenation index (10 ml/kg and Murray scale scores (>2 than those in patients with NP without ARDS. The reference values of the pulmonary vascular permeability index due to its inadequate informative value call for further investigation. The

  7. Absence of uptake of the rib cage; diagnosis of a Poland's syndrome with the bone SPECT-CT

    International Nuclear Information System (INIS)

    Granier, P.; Mourad, M.

    2008-01-01

    We report the case of a 37-year-old man, investigated for pains of the right upper limb impairing the hand, the wrist and the shoulder after a surgery for fracture of the radius and the scaphoid. The 99m Tc-H.D.P. three-phase bone scintigraphy confirmed the diagnosis of acute phase of a reflex sympathetic dystrophy. The delayed images highlighted a focal absence of tracer uptake of the left anterior rib cage. The single photon emission computerized tomography guided by computerized tomography showed that it was related to the absence of the anterior part of the third and the fourth left ribs highlighting an aplasia of the left pectoralis major muscle. These anomalies led to the diagnosis of congenital malformation in connection with a Poland's syndrome. The differential diagnosis of this syndrome resulted in discussing the multiple etiologies of the photopenic lesions of the rib cage. (authors)

  8. Differential Diagnosis of Nodular Goiter by Aspiration Cytology

    International Nuclear Information System (INIS)

    Koh, Suk Man; Lee, Houn Young; Han, Bong Heon; Kim, Sam Young; Ro, Heung Kyu

    1982-01-01

    113 patients with nodular goiter were studied cytologically by needle aspiration for differential diagnosis at the department of internal medicine, Chungnam National University Hospital since October 1980 till July 1981, and the final diagnosis taken from biopsies were compared with the cytologic method on the 44 cases who received operation. The results were obtained as follows: 1. Among the 113 cases of total patients, male were 15 cases (13.3%) and female were 98 cases (86.7%) and the sex ratio (M : F) was 1 : 6.5. The peak age incidence was in the third decade followed by forth and second decades. 2. The findings of cytological diagnosis in 113 cases showed benign adenoma in 69 cases (61.1%), subacute and chronic thyroiditis in 22 cases (19.5%), papillary carcinoma in 15 cases (13.3%) and follicular carcinoma in 7 cases (6.2%), respectively, and 48 cases (69.6%) of the adenomas and 2 cases (9.1%) of papillary carcinomas showed combined cystic degeneration of the nodules. 3. The diameter of the nodules by palpation revealed within 2-5 cm in 88 cases (77.9%) out of 113 cases, below 2 cm in 17 cases and over 5 cm in 8 cases and there were no significant relationship between the size of the nodule and disease entity. 4. The findings of thyroid scintigram using 131 I in 113 cases of nodular goiter showed 'cold nodule' in 111 cases (98.2%) and normal scan (radioactivity) in 2 cases (1.8%) which showed adenoma in cytology and there was no cases with h ot nodule'. 5. The thyroid functions of the 113 cases revealed as euthyroidism in 108 cases (95.6%), hypothyroidism in 2 cases (2.7%) in adenomas but there was no evidence that the nodules of the above 3 cases were the reason of hyperthyroidism. 6. In 44 operated cases, the histological diagnosis revealed 23 cases of adenoma out of 27 cases (85.2%) who were diagnosed as adenoma by cytology and 15 cases of malignancy out of 17 cases (88.2%), and the overall diagnostic accuracy of aspiration cytology was 86.4%.

  9. Computer-Aided Methodology for Syndromic Strabismus Diagnosis.

    Science.gov (United States)

    Sousa de Almeida, João Dallyson; Silva, Aristófanes Corrêa; Teixeira, Jorge Antonio Meireles; Paiva, Anselmo Cardoso; Gattass, Marcelo

    2015-08-01

    Strabismus is a pathology that affects approximately 4 % of the population, causing aesthetic problems reversible at any age and irreversible sensory alterations that modify the vision mechanism. The Hirschberg test is one type of examination for detecting this pathology. Computer-aided detection/diagnosis is being used with relative success to aid health professionals. Nevertheless, the routine use of high-tech devices for aiding ophthalmological diagnosis and therapy is not a reality within the subspecialty of strabismus. Thus, this work presents a methodology to aid in diagnosis of syndromic strabismus through digital imaging. Two hundred images belonging to 40 patients previously diagnosed by an specialist were tested. The method was demonstrated to be 88 % accurate in esotropias identification (ET), 100 % for exotropias (XT), 80.33 % for hypertropias (HT), and 83.33 % for hypotropias (HoT). The overall average error was 5.6Δ and 3.83Δ for horizontal and vertical deviations, respectively, against the measures presented by the specialist.

  10. CT diagnosis and differential diagnosis of otodystrophic lesions of the temporal bone

    International Nuclear Information System (INIS)

    D'Archambeau, O.; Parizel, P.M.; Schepper, A.M. De; Koekelkoren, E.; Van De Heyning, P.

    1990-01-01

    The purpose of this study was to assess the diagnostic and differential diagnostic value of high-resolution computed tomography in the evaluation of temporal-bone dystrophies. The study group included 55 patients with osseous abnormalities of the temporal bone in general, and the labyrinthine capsule in particular. In 27 patients the CT scan revealed evidence of otodystrophic lesions. The CT findings in patients with otosclerosis (21 patients), osteogenesis imperfecta (two patients), fibrous dysplasia (one patient). Paget's disease (one patient) and osteoporosis (two patients) are described. The CT scans of 17 patients revealed secondary osseous lesions due to metastasis (five patients), post-inflammatory changes (10 patients) or labyrinthitis ossificans (two patients). Normal variants and congenital mineralization defects were diagnosed in nine patients, Down's syndrome in two. Our results indicate the importance of high-resolution computed tomography as the primary imaging modality in evaluating osseous lesions of the temporal bone and labyrinth. (author). 14 refs.; 13 figs; 2 tabs

  11. 18F FDG PET/CT in differential diagnosis of Parkinsonian disorders

    International Nuclear Information System (INIS)

    Deepa; Moon, S.; Mahajan, S.; Thapa, P.; Gupta, P.; Sahana; Tripathi, M.; Sharma, R.; Mondal, A.; Batla, A.; Nehru, R.; Kushwaha, S.; Mishra, A.K.

    2010-01-01

    Full text: Differential diagnosis of Parkinsonian disorders can be challenging in the early phase of disease course. Positron Emission Tomography (PET) imaging with 18 F Fluorodeoxyglucose (FDG) has been used to identify characteristic patterns of glucose metabolism in patients with idiopathic Parkinson's Disease (PD) as well as variant forms of Parkinsonism such as Multisystem Atrophy (MSA), Progressive Supranuclear Palsy (PSP) and cortico basal ganglionic degeneration (CBGD). In this study we assessed the utility of 18 F FDG PET/CT in the differential diagnosis Parkinsonian syndromes. 66 Parkinsonian patients with a mean age of 59.6 ± 11.50 years, male: female ratio of 3.12:1, age range of 35-84 years with a disease duration of 2.6 ± .68 years were referred for FDG PET to determine whether their scan patterns could distinguish idiopathic Parkinsons from the Parkinson plus syndromes. Approximately 60 minutes following intravenous injection of 370 MBq of 18 F-FDG, PET/CT scan of the brain was acquired in a whole-body Full Ring PET/CT scanner (Discovery STE16 camera). A low dose CT was obtained on the same area without IV contrast for attenuation correction and coregistration. Images were reconstructed using a 3D VUE algorithm and slices were reformatted into transaxial, coronal and sagittal views. Subsequently the images were processed and visually analyzed on Xeleris workstation. Images were classified by visual analysis into the various subgroups, those with normal to increased basal ganglia uptake were classified into Idiopathic Parkinson's (40/45) and when basal ganglia uptake was decreased they were Parkinsons Plus (19/21). The study demonstrates that 18 F FDG PET performed at the time of initial referral for parkinsonism could accurately classify patients into Parkinson's disease and Parkinson plus subtypes

  12. CT diagnosis and differential diagnosis of the masses in lateral district of neck

    International Nuclear Information System (INIS)

    Cai Wenchong; Wei Zengcai; Li Huajie

    2006-01-01

    Objective: To analyze the CT findings and the corresponding anatomic basis of the masses arising in the lateral district of neck, and improve the diagnosis. Methods: CT findings in 52 patients with tumours in lateral district of neck, pathologically proved, were retrospectively studied on the size of the masses, morphology, density, margin, contrast enhanced characteristics, location and relationship with adjacent vessels and spaces. Results: Among the 52 cases, masses were located in the prestyloid space in 8 cases, in the parotid in 8, within the masticator space in 2, and in the carotid space in 31. In most of the cases, CT revealed the pathologic nature of the masses and adjacent anatomic structure. According to the displacement of the adjacent spaces muscles and vessels caused by the masses, the origin of the masses could be predicted. The origin of the masses was spatially related to the internal carotid artery and the jugular vein. Conclusion: CT is an effective modality for the positional diagnosis of the masses arising lateral district of neck. Considering the anatomical position and contrast enhanced characteristics and the involvement of the adjacent structure, the qualitative and differential diagnosis can be improved. (authors)

  13. Perfusion SPECT studies with mapping of Brodmann areas in differentiating Alzheimer's disease from frontotemporal degeneration syndromes.

    Science.gov (United States)

    Valotassiou, Varvara; Papatriantafyllou, John; Sifakis, Nikolaos; Tzavara, Chara; Tsougos, Ioannis; Kapsalaki, Eftychia; Hadjigeorgiou, George; Georgoulias, Panagiotis

    2012-12-01

    The aim of this study was to evaluate the contribution of brain perfusion single-photon emission computed tomography (SPECT) studies with mapping of Brodmann areas (BAs) in the differential diagnosis between Alzheimer's disease (AD) and frontotemporal degeneration (FTLD) syndromes. Thirty-nine patients with AD and 73 patients with FTLD syndromes [behavioural variant FTLD (bvFTLD); language variant FTLD (lvFTLD), including semantic dementia (SD) and progressive nonfluent aphasia (PNFA); and corticobasal degeneration (CBD)/progressive supranuclear palsy (PSP) syndromes] underwent brain perfusion SPECT. The NeuroGam software was used for the semiquantitative evaluation of perfusion in BAs of the left (L) and right (R) hemispheres. Compared with those in AD patients, BAs with statistically significant hypoperfusion were found in the prefrontal, orbitofrontal and cingulated cortices and Broca's areas of FTLD and bvFTLD patients; in the temporal and prefrontal cortices and Broca's areas of lvFTLD patients; in the left temporal gyrus of SD patients; in premotor and supplementary motor, prefrontal, orbitofrontal, temporal and anterior cingulated cortices and Broca's areas of PNFA patients; and in the prefrontal, temporal, posterior cingulated and primary and secondary visual cortices of CBD/PSP patients. BA 46R could differentiate AD patients from FTLD and bvFTLD patients; 21L and 25L were found to be independent predictors for lvFTLD in comparison with AD, and 25R, 21L and 23R could differentiate AD patients from PNFA, SD and CBD/PSP patients, respectively. Brain perfusion SPECT with BA mapping in AD and FTLD patients could improve the definition of brain areas that are specifically implicated in these disorders, resulting in a more accurate differential diagnosis.

  14. Prenatal Diagnosis of Cloacal Exstrophy: A Case Report and Differential Diagnosis with a Simple Omphalocele

    Directory of Open Access Journals (Sweden)

    Ching-Yu Chou

    2015-03-01

    Full Text Available Cloacal exstrophy is a rare congenital disorder that may lead to mortality and morbidity. Although the prenatal diagnosis of cloacal exstrophy can be made by a midtrimester ultrasound, it is difficult to differentiate it from a simple omphalocele that can be corrected completely by surgery without morbidity. We reported a case with cloacal exstrophy and reviewed previous literature on differentiating it from an omphalocele. A 33-year-old, pregnant female visited our outpatient center for prenatal care at the 22nd gestational week. The midtrimester ultrasound showed fetal anomalies including a protruding mass from umbilicus, absence of bladder, ambiguous genitalia, and bilateral renal hydronephrosis. The parents received prenatal genetic counseling and decided to continue the pregnancy. A female baby was delivered at the 37th gestational week via vaginal delivery, and cloacal exstrophy without omphalocele was diagnosed. Cloacal exstrophy is a complicated congenital disorder that should be differentiated from a simple omphalocele. Prenatal counseling and postnatal care in a tertiary medical center are important for parents and the fetus, respectively.

  15. Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome

    Directory of Open Access Journals (Sweden)

    Robert eSokolic

    2015-06-01

    Full Text Available Children with Wiskott-Aldrich syndrome (WAS are often first diagnosed with immune thrombocytopenia (ITP, potentially leading to both inappropriate treatment and the delay of life-saving definitive therapy. WAS is traditionally differentiated from ITP based on the small size of WAS platelets. In practice, microthrombocytopenia is often not present or not appreciated in children with WAS. To develop an alternative method of differentiating WAS from ITP, we retrospectively reviewed all complete blood counts and measurements of immature platelet fraction (IPF in 18 subjects with WAS and 38 subjects with a diagnosis of ITP treated at our hospital. Examination of peripheral blood smears revealed a wide range of platelet sizes in subjects with WAS. Mean platelet volume (MPV was not reported in 26% of subjects, and subjects in whom MPV was not reported had lower platelet counts than did subjects in whom MPV was reported. Subjects with WAS had a lower immature platelet fraction (IPF than would be expected for their level of thrombocytopenia, and the IPF in subjects with WAS was significantly lower than in subjects with a diagnosis of ITP. Using logistic regression, we developed and validated a rule based on platelet count and IPF that was more sensitive for the diagnosis of WAS than was the MPV, and was applicable regardless of the level of platelets or the availability of the MPV. Our observations demonstrate that MPV is often not available in severely thrombocytopenic subjects, which may hinder the diagnosis of WAS. In addition, subjects with WAS have a low IPF, which is consistent with the notion that a platelet production defect contributes to the thrombocytopenia of WAS. Knowledge of this detail of WAS pathophysiology allows to differentiate WAS from ITP with increased sensitivity, thereby allowing a physician to spare children with WAS from inappropriate treatment, and make definitive therapy available in a timely manner.

  16. CT differential diagnosis between angiomyolipoma and carcinoma of kidney

    International Nuclear Information System (INIS)

    Tang Guangjian; Xu Yan

    2004-01-01

    Objective: To investigate the formation of the cup sign and split sign in renal neoplasms and to evaluate the significance of these signs in CT differential diagnosis between angiomyolipoma (AML) and carcinoma of the kidney. Methods: Thirty cases of AMLs of kidney less than 5 cm in diameter confirmed pathologically or by the fat component shown in CT, and 26 cases of primary renal carcinomas less than 4 cm in diameter confirmed by operation and pathology were included in this study. The positive rates of cup sign and split sign of AML group and renal carcinoma group were calculated respectively and studied with blind method and pathologic comparison. Results: Of the 30 AMLs, cup sign was positive in 25 cases (83.3%) and split sign in 22 (73.3%). Of the 26 small renal carcinomas, cup sign was positive in 6 cases (23.1%) and split sign in 5 (19.2%). 7 AMLs without fat component or with too little fat to be seen with CT showed positive findings of cup sign in 6 (85.7%) and split sign in 5 (71.4%), respectively. The statistical results showed that the differences between the results of the writer and blind method, as well as between the imaging observation and pathologic findings were not significant (χ 2 =2.333, P>0.1; χ 2 =0.177, P>0.5). Conclusion: To some extent, the cup sign and split sign on CT reflect the biologic character of AMLs, and the signs are helpful in making the specific diagnosis of AML combined with other imaging manifestations. (authors)

  17. Elastofibroma dorsi – differential diagnosis in chest wall tumours

    Directory of Open Access Journals (Sweden)

    Steinau Hans-Ulrich

    2007-02-01

    Full Text Available Abstract Background Elastofibromas are benign soft tissue tumours mostly of the infrascapular region between the thoracic wall, the serratus anterior and the latissimus dorsi muscle with a prevalence of up to 24% in the elderly. The pathogenesis of the lesion is still unclear, but repetitive microtrauma by friction between the scapula and the thoracic wall may cause the reactive hyperproliferation of fibroelastic tissue. Methods We present a series of seven cases with elastofibroma dorsi with reference to clinical findings, further clinical course and functional results after resection, as well as recurrence. Data were obtained retrospectively by clinical examination, phone calls to the patients' general practitioners and charts review. Follow-up time ranged from four months to nine years and averaged 53 months. Results The patients presented with swelling of the infrascapular region or snapping scapula. In three cases, the lesion was painful. The ratio men/women was 2/5 with a mean age of 64 years. The tumor sizes ranged from 3 to 13 cm. The typical macroscopic aspect was characterized as poorly defined fibroelastic soft tissue lesion with a white and yellow cut surface caused by intermingled remnants of fatty tissue. Microscopically, the lesions consisted of broad collagenous strands and densely packed enlarged and fragmented elastic fibres with mostly round shapes. In all patients but one, postoperative seroma (which had to be punctuated occurred after resection; however, at follow-up time, no patient reported any decrease of function or sensation at the shoulder or the arm of the operated side. None of the patients experienced a relapse. Conclusion In differential diagnosis of soft tissue tumors located at this specific site, elastofibroma should be considered as likely diagnosis. Due to its benign behaviour, the tumor should be resected only in symptomatic patients.

  18. Differential diagnosis of bipolar disorder and major depressive disorder.

    Science.gov (United States)

    Hirschfeld, R M

    2014-12-01

    Patients with bipolar disorder spend approximately half of their lives symptomatic and the majority of that time suffering from symptoms of depression, which complicates the accurate diagnosis of bipolar disorder. Challenges in the differential diagnosis of bipolar disorder and major depressive disorder are reviewed, and the clinical utility of several screening instruments is evaluated. The estimated lifetime prevalence of major depressive disorder (i.e., unipolar depression) is over 3 and one-half times that of bipolar spectrum disorders. The clinical presentation of a major depressive episode in a bipolar disorder patient does not differ substantially from that of a patient with major depressive disorder (unipolar depression). Therefore, it is not surprising that without proper screening and comprehensive evaluation many patients with bipolar disorder may be misdiagnosed with major depressive disorder (unipolar depression). In general, antidepressants have demonstrated little or no efficacy for depressive episodes associated with bipolar disorder, and treatment guidelines recommend using antidepressants only as an adjunct to mood stabilizers for patients with bipolar disorder. Thus, correct identification of bipolar disorder among patients who present with depression is critical for providing appropriate treatment and improving patient outcomes. Clinical characteristics indicative of bipolar disorder versus major depressive disorder identified in this review are based on group differences and may not apply to each individual patient. The overview of demographic and clinical characteristics provided by this review may help medical professionals distinguish between major depressive disorder and bipolar disorder. Several validated, easily administered screening instruments are available and can greatly improve the recognition of bipolar disorder in patients with depression. Copyright © 2014 Elsevier B.V. All rights reserved.

  19. Lactonase Activity and Lipoprotein-Phospholipase A2 as Possible Novel Serum Biomarkers for the Differential Diagnosis of Autism Spectrum Disorders and Rett Syndrome: Results from a Pilot Study

    Directory of Open Access Journals (Sweden)

    Joussef Hayek

    2017-01-01

    Full Text Available Rett syndrome (RTT and autism spectrum disorders (ASDs are not merely expression of brain dysfunction but also reflect the perturbation of physiological/metabolic homeostasis. Accordingly, both disorders appear to be associated with increased vulnerability to toxicants produced by redox imbalance, inflammation, and pollution, and impairment of systemic-detoxifying agents could play a role in the exacerbation of these detrimental processes. To check this hypothesis, the activities of two mechanistically related blood-based enzymes, paraoxonase-1 (arylesterase, paraoxonase, and lactonase, and lipoprotein-associated phospholipase A2 (Lp-PLA2 were measured in the serum of 79 ASD and 95 RTT patients, and 77 controls. Lactonase and Lp-PLA2 showed a similar trend characterized by significantly lower levels of both activities in ASD compared to controls and RTT (p<0.001 for all pairwise comparisons. Noteworthy, receiving operator curve (ROC analysis revealed that lactonase and, mostly, Lp-PLA2 were able to discriminate between ASD and controls (lactonase: area under curve, AUC = 0.660; Lp-PLA2, AUC = 0.780, and, considering only females, between ASD and RTT (lactonase, AUC = 0.714; Lp-PLA2, AUC = 0.881. These results suggest that lactonase and, especially, Lp-PLA2 activities might represent novel candidate biomarkers for ASD.

  20. Using milk leukocyte differentials for diagnosis of subclinical bovine mastitis.

    Science.gov (United States)

    Gonçalves, Juliano Leonel; Lyman, Roberta L; Hockett, Mitchell; Rodriguez, Rudy; Dos Santos, Marcos Veiga; Anderson, Kevin L

    2017-08-01

    This research study aimed to evaluate the use of the milk leukocyte differential (MLD) to: (a) identify quarter milks that are culture-positive; and (b) characterize the milk leukocyte responses to specific groups of pathogens causing subclinical mastitis. The MLD measures the absolute number and relative percentage of inflammatory cells in milk samples. Using the MLD in two dairy herds (170 and 172 lactating cows, respectively), we studied all lactating cows with a most recent monthly Dairy Herd Improvement Association somatic cell count (SCC) >200 × 103 cells/ml. Quarter milk samples from 78 cows meeting study criteria were analysed by MLD and aseptically collected milk samples were subjected to microbiological culture (MC). Based upon automated instrument evaluation of the number and percentage of inflammatory cells in milk, samples were designated as either MLD-positive or - negative for subclinicial mastitis. Positive MC were obtained from 102/156 (65·4%) of MLD-positive milk samples, and 28/135 (20·7%) of MLD-negative milk samples were MC-positive. When MC was considered the gold standard for mastitis diagnosis, the calculated diagnostic Se of the MLD was 65·4% (IC95% = 57·4 to 72·8%) and the Sp was 79·3% (IC95% = 71·4 to 85·7%). Quarter milks positive on MC had higher absolute numbers of neutrophils, lymphocytes and macrophages, with higher neutrophils% and lymphocytes% but lower macrophages%. The Log10 (N/L) ratios were the most useful ratio to differentiate specific subclinical mastitis quarters from healthy quarters. Use of the MLD on cows with monthly composite SCC > 200 × 103 cells/ml for screening at quarter level identified quarters more likely to be culture-positive. In conclusion, the MLD can provide an analysis of mammary quarter status more detailed than provided by SCC alone; however, the MLD response to subclinical mastitis was not found useful to specifically identify the causative pathogen.

  1. Differential diagnosis of the 4th ventricular tumors

    International Nuclear Information System (INIS)

    Lee, Sang Woo; Lee, Jong Min; Kang, Moo Song; Kim, Chul Min; Kim, Chang Soo

    1997-01-01

    To determine by analysis of MR and CT findings the points of differentiation among 4th ventricular tumors, especially the change of shape of the 4th ventricle caused by the site at which 4th ventricular tumors originate. The authors retrospectively analyzed and compared the CT(n=5) and MRI(n=12) findings of 13 pathologically proven 4th ventricular tumors comprising six medulloblastomas three ependymomas(4 cases) and three choroids plexus papillomas. On axial MRI medulloblastomas showed anterior and anterolateral CSF-clefts between the tumor mass and the 4th ventricular wall in one and five cases, respectively; on sagittal MRI, anterior beaking of the upper 4th ventricle was seen. Two ependymomas showed posterolateral CSF-cleft on axial MRI and posterior beaking of the upper 4th ventricle on sagittal MRI. Two ependymomas and all choroids plexus papillomas showed anterior, posterior and lateral CSF-clefts on axial MRI, and anterior and posterior beakings of the upper 4th ventricle on sagittal MRI. On Gd-DTPA enhanced T1WI, all medulloblastomas and ependymomas showed inhomogeneous enhancement, and all choroids plexus papillomas showed homogeneous enhancement. On CT, tow choroids plexus papillomas showed dense calcifications. The differential diagnosis of 4th ventricular tumors can be preoperatively suggested by analysis of findings such as a CSF-cleft between the tumor mass and the 4th ventricular wall on axial MR and CT images, the shape of the upper 4th ventricle on sagittal MRI, contrast enhancement pattern, necrosis and cyst, and CSF seeding

  2. Diagnosis and Management of Polycystic Ovary Syndrome in Adolescent Girls.

    Science.gov (United States)

    Lanzo, Erin; Monge, Maria; Trent, Maria

    2015-09-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder in adolescent girls that has both reproductive and metabolic implications. Patients with PCOS typically present to their pediatrician for evaluation of menstrual irregularity and/or signs of hyperandrogenism, such as hirsutism and acne. The diagnosis of PCOS is made by clinical symptoms and laboratory evaluation. Because of the long-term health consequences that can accompany the disorder, pediatricians should consider PCOS in their initial evaluation of menstrual irregularity. Lifestyle modification is the cornerstone of treatment for girls with PCOS; however, hormonal medication such as oral contraceptive pills and insulin-sensitizing agents are useful and effective adjuncts to therapy. The goals of treatment for girls with PCOS are to improve clinical manifestations of the disorder, health-related quality of life, and long-term health outcomes. Copyright 2015, SLACK Incorporated.

  3. MR imaging in the diagnosis of impingement syndrome

    International Nuclear Information System (INIS)

    Seeger, L.L.; Gold, R.H.; Bassett, L.W.; Ellman, H.

    1986-01-01

    The impingement syndrome is entrapment of the supraspinatus tendon by either the acromion, or a subacromial or acromioclavicular spur. Arthrography is normal during stages I (tendon inflammation) and II (fibrosis). The lack of objective findings often delays diagnosis until stage III (ischemic rotator cuff tear) is present. The purpose was to determine if MR imaging is useful in diagnosing this condition. T1-weighted surface coil scans were obtained on eight patients using a 0.3-T MR system. An axial scout allowed oblique alignment for imaging the osseous-soft tissue relationship and the supraspinatus tendon. MR is capable of displaying the specific pathologic anatomy of this disorder. Impinging spurs can be seen, and the adjacent tendon shows inferior displacement and abnormal signal intensity

  4. The Postural Tachycardia Syndrome (POTS: Pathophysiology, Diagnosis & Management

    Directory of Open Access Journals (Sweden)

    Satish R Raj

    2006-04-01

    Full Text Available Postural tachycardia syndrome (POTS, characterized by orthostatic tachycardia in the absence of orthostatic hypotension, has been the focus of increasing clinical interest over the last 15 years 1. Patients with POTS complain of symptoms of tachycardia, exercise intolerance, lightheadedness, extreme fatigue, headache and mental clouding. Patients with POTS demonstrate a heart rate increase of ≥30 bpm with prolonged standing (5-30 minutes, often have high levels of upright plasma norepinephrine (reflecting sympathetic nervous system activation, and many patients have a low blood volume. POTS can be associated with a high degree of functional disability. Therapies aimed at correcting the hypovolemia and the autonomic imbalance may help relieve the severity of the symptoms. This review outlines the present understanding of the pathophysiology, diagnosis, and management of POTS.

  5. Experience of diagnosis and treatment of Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Shuo TIAN

    2017-12-01

    Full Text Available Objective To analyze the clinical characteristics and provide the experiences in diagnosis and treatment of 3 cases of Gitelman syndrome (GitS. Methods Three patients diagnosed as GitS were selected as the objects in Tangshan gongren Hospital from Aug. 2010 to Jan. 2017. Their clinical data were retrospectively analyzed and combined with the related literatures, and the clinical characteristics and treatment experiences of the disease were discussed. Results Of the 3 patients, 2 were teenager onset and another one was adult onset. The blood pressure of the 3 patients was normal, and the clinical features were as paroxysmal weakness, tetany, polyuria and nocturia increased. Laboratory tests revealed low potassium, low sodium, low chlorine, hypomagnesemia, occasionally hypocalcemia, high urinary potassium, metabolic alkalosis, urine Ca/Cr ≤0.2, plasma rennin activity increased significantly and plasma aldosterone was normal. Being eliminated symptoms and phenomena were the potassium intake inadequate, loss of potassium in digestive tract, taking potassium excretion drugs, primary aldosteronism and Cushing syndrome. etc. Patients got symptoms relief and serum potassium level rose to near normal level after receiving the combined potassium and magnesium supplement. Conclusions The clinical characteristics of GitS manifest as fatigue, tetany, normal blood pressure, hypokalemia, hypomagnesemia, metabolic alkalosis, plasma rennin activity increases significantly and plasma aldosterone rises or normal. Treatment with combined potassium and magnesium supplement may lead to a good prognosis, but hypomagnesemia is harder to correct. Kidney damage can be avoided by early diagnosis and treatment. DOI: 10.11855/j.issn.0577-7402.2017.12.13

  6. Anthropometric Indicators Predict Metabolic Syndrome Diagnosis in Maintenance Hemodialysis Patients.

    Science.gov (United States)

    Vogt, Barbara Perez; Ponce, Daniela; Caramori, Jacqueline Costa Teixeira

    2016-06-01

    Obesity has been considered the key in metabolic syndrome (MetS) development, and fat accumulation may be responsible for the occurrence of metabolic abnormalities in hemodialysis patients. The use of gold-standard methods to evaluate obesity is limited, and anthropometric measures may be the simplest methods. However, no study has investigated the association between anthropometric indexes and MetS in these patients. Therefore, the aim was to determine which anthropometric indexes had the best association and prediction for MetS in patients undergoing hemodialysis. Cross-sectional study that included patients older than 18 years, undergoing hemodialysis for at least 3 months. Patients with liver disease and cancer or those receiving corticosteroids or antiretroviral therapy were excluded. Diagnostic criteria from Harmonizing Metabolic Syndrome were used for the diagnosis of MetS. Anthropometric indexes evaluated were body mass index (BMI); percent standard of triceps skinfold thickness and of middle arm muscle circumference; waist circumference (WC); sagittal abdominal diameter; neck circumference; waist-to-hip, waist-to-thigh, and waist-to-height ratios; sagittal index; conicity index; and body fat percentage. Ninety-eight patients were included, 54.1% male, and mean age was 57.8 ± 12.9 years. The prevalence of MetS was 74.5%. Individuals with MetS had increased accumulation of abdominal fat and general obesity. Waist-to-height ratio was the variable independently associated with MetS diagnosis (odds ratio, 1.21; 95% confidence interval, 1.09-1.34; P < .01) and that better predicts MetS, followed by WC and BMI (area under the curve of 0.840, 0.836, and 0.798, respectively, P < .01). Waist-to-height ratio was the best anthropometric predictor of MetS in maintenance hemodialysis patients. © 2015 American Society for Parenteral and Enteral Nutrition.

  7. Does the metabolic syndrome add to the diagnosis and treatment of cardiovascular disease?

    NARCIS (Netherlands)

    de Zeeuw, Dick; Bakker, Stephan J. L.

    Much controversy has surrounded both the pathological basis and the clinical utility of the metabolic syndrome. Key questions still revolve around the definition of this syndrome, its utility as a predictor of cardiovascular risk, and the treatment implications of diagnosis. The metabolic syndrome

  8. Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes

    Directory of Open Access Journals (Sweden)

    Paul Dunn

    2018-02-01

    Full Text Available Epilepsy is a neurological disorder characterized by an increased predisposition for seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses a group of disorders with diverse aetiologies and outcomes. A genetic basis for epilepsy syndromes has been postulated for several decades, with several mutations in specific genes identified that have increased our understanding of the genetic influence on epilepsies. With 70-80% of epilepsy cases identified to have a genetic cause, there are now hundreds of genes identified to be associated with epilepsy syndromes which can be analyzed using next generation sequencing (NGS techniques such as targeted gene panels, whole exome sequencing (WES and whole genome sequencing (WGS. For effective use of these methodologies, diagnostic laboratories and clinicians require information on the relevant workflows including analysis and sequencing depth to understand the specific clinical application and diagnostic capabilities of these gene sequencing techniques. As epilepsy is a complex disorder, the differences associated with each technique influence the ability to form a diagnosis along with an accurate detection of the genetic etiology of the disorder. In addition, for diagnostic testing, an important parameter is the cost-effectiveness and the specific diagnostic outcome of each technique. Here, we review these commonly used NGS techniques to determine their suitability for application to epilepsy genetic diagnostic testing.

  9. DIFFERENTIAL DIAGNOSIS OF DEEP GLUTEAL PAIN IN A FEMALE RUNNER WITH PELVIC INVOLVEMENT: A CASE REPORT

    Science.gov (United States)

    Podschun, Laura; Kolber, Morey J.; Garcia, Ashley; Rothschild, Carey E.

    2013-01-01

    Background: Gluteal injuries, proximal hamstring injuries, and pelvic floor disorders have been reported in the literature among runners. Some suggest that hip, pelvis, and/or groin injuries occur in 3.3% to 11.5% of long distance runners. The purpose of this case report is to describe the differential diagnosis and treatment approach for a patient presenting with combined hip and pelvic pain. Case description: A 45-year-old female distance runner was referred to physical therapy for proximal hamstring pain that had been present for several months. This pain limited her ability to tolerate sitting and caused her to cease running. Examination of the patient's lumbar spine, pelvis, and lower extremity led to the initial differential diagnosis of hamstring syndrome and ischiogluteal bursitis. The patient's primary symptoms improved during the initial four visits, which focused on education, pain management, trunk stabilization and gluteus maximus strengthening, however pelvic pain persisted. Further examination led to a secondary diagnosis of pelvic floor hypertonic disorder. Interventions to address the pelvic floor led to resolution of symptoms and return to running. Outcomes: Pain level on the Visual Analog Scale decreased from 7/10 to 1/10 over the course of treatment. The patient was able to return to full sport activity and improved sitting tolerance to greater then two hours without significant discomfort. Discussion: This case suggests the interdependence of lumbopelvic and lower extremity kinematics in complaints of hamstring, posterior thigh and pelvic floor disorders. This case highlights the importance of a thorough examination as well as the need to consider a regional interdependence of the pelvic floor and lower quarter when treating individuals with proximal hamstring pain. Level of Evidence: Level 4 PMID:24175132

  10. Differential diagnosis between early repolarization of athlete's heart and coved-type Brugada electrocardiogram.

    Science.gov (United States)

    Zorzi, Alessandro; Leoni, Loira; Di Paolo, Fernando M; Rigato, Ilaria; Migliore, Federico; Bauce, Barbara; Pelliccia, Antonio; Corrado, Domenico

    2015-02-15

    Early repolarization (ER) is typically observed in highly trained athletes as a physiologic consequence of increased vagal tone. The variant of anterior (V1 to V3) ER characterized by "domed" ST-segment elevation and negative T wave raises problems of differential diagnosis with the "coved-type" electrocardiographic pattern seen in Brugada syndrome (BS). This study was designed to identify electrocardiographic criteria for distinguishing athlete's ER from BS. The study compared the electrocardiographic tracings of 61 healthy athletes (80% men, median age 23 ± 8 years), showing "domed" ST-segment elevation and negative T wave in leads V1 to V3, with those of 92 consecutive age- and sex-matched BS patients with a "coved-type" electrocardiographic pattern. The electrocardiographic analysis focused on the ST-segment elevation at J point (STJ) and at 80 milliseconds after J point (ST₈₀). Athletes had a lower maximum amplitude of STJ (1.46 ± 0.7 vs 3.25 ± 0.6 mm, p 1) versus only 2 (3%) athletes (p <0.001). An upsloping ST-segment configuration (STJ/ST₈₀ <1) showed a sensitivity of 97%, a specificity of 100%, and a diagnostic accuracy of 98.7% for the diagnosis of ER. At multivariate analysis, STJ/ST₈₀ ratio remained the only independent predictor for ER (odds ratio 87, 95% confidence interval 19 to 357, p <0.001). In conclusion, the STJ/ST₈₀ ratio is a highly accurate electrocardiographic parameter for differential diagnosis between anterior ER of the athlete and BS. Our results may help in reducing the number of athletes who undergo expensive diagnostic workup or are unnecessarily disqualified from competition for changes that fall within the normal range of athlete's heart. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Differential diagnosis between odontogenic keratocyst and ameloblastoma by computed tomography

    International Nuclear Information System (INIS)

    Eun, Sang A; Kim, Kee Deog; Park, Chang Seo

    2002-01-01

    The objective of this study is to find the differentiating characteristics of ameloblastomas and odontogenic keratocysts of the jaw by analyzing computed tomography (CT) images of the lesions, clarify radiological characteristics associated with jaw lesions, and to make a diagnosis based on these findings. Test subjects were chosen among the patients who were diagnosed as having an odontogenic keratocyst or ameloblastoma at the Yonsei University Dental Hospital from January 1996 to December 2000 and had CT scans taken preoperatively. The subject pool was comprised of 51 cases of odontogenic keratocyst and 37 cases of ameloblastoma. The following measures were used for image analysis of the lesion : the anatomic location, CT pattern, mesiodistal width, buccolingual width, the ratios between mesiodistal width and buccolingual width, height, CT number, homogeneity of radiodensity, the appearance of a sclerotic rim, continuity of adjacent cortical bone, and displacement and resorption of adjacent teeth. Comparing the CT patten, mesiodistal width, buccolingual width, height, CT number, homogeneity, appearance of sclerotic rim, continuity of adjacent cortical bone, there were statistically significant differences between ameloblastoma and odontogenic keratocyst test subjects (p 0.05). We compared odontogenic keratocysts and ameloblastomas in CT scans. They occurred most frequently in the posterior to the ramus of the mandible. The findings of patterns of the CT images showed that size and border of lesions were more aggressive in ameloblastomas than in odontogenic keratocysts. The internal contents represented an increased attenuation area (IAA) in odontopenic keratocyst. Odontogenic keratocysts were shown to have higher CT numbers than ameloblastomas.

  12. Prevalence, Clinical Presentation, and Differential Diagnosis of Pediatric Bipolar Disorder

    Science.gov (United States)

    Goldstein, Benjamin I.; Birmaher, Boris

    2016-01-01

    Background Over the past 20 years, the evidence regarding pediatric bipolar disorder (BP) has increased substantially. As a result, recent concerns have focused primarily on prevalence and differential diagnosis. Method Selective review of the literature. Results BP as defined by rigorously applying diagnostic criteria has been observed among children and especially adolescents in numerous countries. In contrast to increasing diagnoses in clinical settings, prevalence in epidemiologic studies has not recently changed. BP-spectrum conditions among youth are highly impairing and confer high risk for conversion to BP-I and BP-II. Compared to adults, youth with BP have more mixed symptoms, more changes in mood polarity, are more often symptomatic and seem to have worse prognosis. The course, clinical characteristics, and comorbidities of BP among children and adolescents are in many ways otherwise similar to those of adults with BP. Nonetheless, many youth with BP receive no treatment and most do not receive BP-specific treatment. Conclusion Despite increased evidence supporting the validity of pediatric BP, discrepancies between clinical and epidemiologic findings suggest that diagnostic misapplication may be common. Simultaneously, low rates of treatment of youth with BP suggest that withholding of BP diagnoses may also be common. Clinicians should apply diagnostic criteria rigorously in order to optimize diagnostic accuracy and ensure appropriate treatment. PMID:22652925

  13. FLAIR imaging for differential diagnosis of new cerebral microbleeds

    International Nuclear Information System (INIS)

    Watanabe, Akira

    2009-01-01

    It may be difficult to determine the time of appearance of cerebral microbleeds (MBs) in T2*-weighted MR imaging (MRI), because most MBs take more than several years to become absorbed. The presence of MBs is closely related to intracerebral hemorrhage, and it is important to detect new MBs in order to prevent intracerebral hemorrhage. We evaluated 108 patients on maintenance hemodialysis with MRI at least twice from May 2003 to May 2008. Seventy-two new MBs were detected and 59 MBs disappeared. Initial fluid-attenuated inversion recovery (FLAIR) imaging revealed 3 MBs with surrounding hyperintensity (SH), but follow-up FLAIR imaging demonstrated disappearance of the SH in all cases. Five of the 72 new MBs had SH, but follow-up FLAIR imaging demonstrated disappearance of the SH in all cases. In one case, SH with the enlarged MB disappeared in follow-up FLAIR images. In conclusion, we considered SH of new MBs to be vasogenic edema accompanying new intracerebral hemorrhage. It was useful to compare T2*-weighted MRI with FLAIR imaging to determine the differential diagnosis of new MBs. (author)

  14. The diagnostic value of late-night salivary cortisol for diagnosis of subclinical Cushing's syndrome.

    Science.gov (United States)

    Kuzu, Idris; Zuhur, Sayid Shafi; Demir, Nazan; Aktas, Gokce; Yener Ozturk, Feyza; Altuntas, Yuksel

    2016-01-01

    Late-night salivary cortisol is a frequently used and easily implemented diagnostically valuable test for the diagnosis of overt Cushing's syndrome. The use of late-night salivary cortisol in the diagnosis of subclinical Cushing's syndrome is somewhat controversial. In this study, we aimed to determine the diagnostic value of late-night salivary cortisol in diagnosing subclinical Cushing's syndrome and compare it with 24-hour urinary free cortisol levels (UFC). The study consisted of 33 cases of subclinical Cushing's syndrome, 59 cases of non-functioning adrenal adenoma, and 41 control subjects. Late-night salivary cortisol and UFC were measured in all the cases. The diagnosis of subclinical Cushing's syndrome was based on combined results of 1 mg dexamethasone suppression test > 1.8 μg/dL and ACTH Cushing's syndrome were significantly higher than in subjects with non-functioning adrenal adenoma and the control group (p Cushing's syndrome were determined as 82% and 60%, respectively. Using a cut-off value of 137 μg/day, the sensitivity and specificity of UFC was determined as 18% and 90%, respectively. Because the sensitivity of late-night salivary cortisol for the diagnosis of subclinical Cushing's syndrome is limited, using it as the sole screening test for subclinical Cushing's syndrome may lead to false negative results. However, using it as an adjunct test to other tests may be beneficial in the diagnosis of subclinical Cushing's syndrome. (Endokrynol Pol 2016; 67 (5): 487-492).

  15. Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.

    Science.gov (United States)

    Corbetta, Samuele; Raimondo, Francesca; Tedeschi, Silvana; Syrèn, Marie-Louise; Rebora, Paola; Savoia, Andrea; Baldi, Lorenza; Bettinelli, Alberto; Pitto, Marina

    2015-04-01

    Gitelman syndrome (GS) and Bartter syndrome (BS) are hereditary salt-losing tubulopathies (SLTs) resulting from defects of renal proteins involved in electrolyte reabsorption, as for sodium-chloride cotransporter (NCC) and furosemide-sensitive sodium-potassium-chloride cotransporter (NKCC2) cotransporters, affected in GS and BS Type 1 patients, respectively. Currently, definitive diagnosis is obtained through expensive and time-consuming genetic testing. Urinary exosomes (UE), nanovesicles released by every epithelial cell facing the urinary space, represent an ideal source of markers for renal dysfunction and injury, because UE molecular composition stands for the cell of origin. On these assumptions, the aim of this work is to evaluate the relevance of UE for the diagnosis of SLTs. UE were purified from second morning urines collected from 32 patients with genetically proven SLTs (GS, BS1, BS2 and BS3 patients), 4 with unclassified SLTs and 22 control subjects (age and sex matched). The levels of NCC and NKCC2 were evaluated in UE by SDS-PAGE/western blotting with specific antibodies. Due to their location on the luminal side of tubular cells, NCC and NKCC2 are well represented in UE proteome. The NCC signal is significantly decreased/absent in UE of Gitelman patients compared with control subjects (Mann-Whitney t-test, P Bartter type 1 (P Bartter type 1 patients from controls and, combined with clinical data, from other Bartter patients. Moreover, the receiver operating characteristic curve analysis using UE NCC densitometric values showed a good discriminating power of the test comparing GS patients versus controls and BS patients (area under the curve value = 0.92; sensitivity 84.2% and specificity 88.6%). UE phenotyping may be useful in the diagnosis of GS and BS, thus providing an alternative/complementary, urine-based diagnostic tool for SLT patient recognition and a diagnostic guidance in complex cases. © The Author 2014. Published by Oxford University

  16. Case Report : A Relieved Family with the Diagnosis of Wernicke-Korsakoff Syndrome

    Directory of Open Access Journals (Sweden)

    Ahmet Kokurcan

    2014-02-01

    Full Text Available Wernicke-Korsakoff Syndrome (WKS is a diagnosis formed from Wernicke ensephalopathy and Korsakoff Syndrome together. WKS is usually a chronic syndrome beginning acutely. Wernicke%u2019s encephalopathy is an acute syndrome composed of the triad of oculomotor signs; ataxia and confusion. B vitamines especially tiamine are considered to cause the syndrome. Korsakoff syndrome is a syndrome presenting with amnesia and amnesia is permanent in many cases. While Korsakoff syndrome is a continuation form of Wernicke; the syndromes are admitted as the acute and chronic conditions of the same pathophysiology. WKS syndrome means despair for many psychiatrists and the family unless treatment is initiated in the acute phase and irreversible cognitive impairment is prevented. We will discuss a case of WKS pleasing his family as nervousness has improved with cognitive impairment.

  17. Serum Fragments of Tau for the Differential Diagnosis of Alzheimer's Disease

    DEFF Research Database (Denmark)

    Inekci, Dilek; Henriksen, K.; Linemann, T.

    2015-01-01

    Differential diagnosis of AD is still a challenge due to overlapping features with other types of dementia. Biomarkers for the differential diagnosis of AD can improve the diagnostic value of the disease and ensure an appropriate treatment of patients. The aim of this study was to evaluate...

  18. [The differential diagnosis of amyotrophic lateral sclerosis and subacute herpes virus myelitis].

    Science.gov (United States)

    Levitsky, G N; Zavalishin, E E; Chub, R V; Morozova, E A; Serkov, S V

    2016-01-01

    Differential diagnosis of incurable and potentially curable neurological diseases is an urgent problem of modern neurology. The authors present a case report of subacute herpes virus myelitis, a rare complication of herpes infection by Varicella-Zoster virus. The differential diagnosis with amyotrophic lateral sclerosis is described.

  19. [The problems of diagnosis and correction of autism in children (an example of Asperger's syndrome)].

    Science.gov (United States)

    Iovchuk, N M; Severnyĭ, A A

    Based on the analysis of literature and own clinical experience, we discuss diagnostic issues of early autistic disorders in children. Main differential-diagnostic signs that permit to differentiate mild forms of autism in childhood diagnosed as Asperger's syndrome from childhood schizophrenia, residual organic CNS damage, circular affective disorders are described. Cases of Asperger's syndrome followed up for many years and recommendations for social and psychological adaptation of children and adolescents with Asperger's syndrome in different age periods are presented.

  20. Differential diagnosis of white matter diseases in the tropics: An overview

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2009-01-01

    Full Text Available In hospitals in the tropics, the availability of magnetic resonance imaging (MRI facilities in urban areas and especially in teaching institutions have resulted in white matter diseases being frequently reported in a variety of clinical settings. Unlike the west where multiple sclerosis (MS is the commonest white matter disease encountered, in the tropics, there are myriad causes for the same. Infectious and post infectious disorders probably account for the vast majority of these diseases. Human immunodeficiency virus (HIV infection tops the list of infective conditions. Central nervous system (CNS tuberculosis occasionally presents with patchy parenchymal lesions unaccompanied by meningeal involvement. Human T cell leukemia virus (HTLV infection and cystic inflammatory lesions such as neurocysticercosis are important causes to be considered in the differential diagnosis. Diagnosing post infectious demyelinating disorders is equally challenging since more than a third of cases seen in the tropics do not present with history of past infection or vaccinations. Metabolic and deficiency disorders such as Wernicke′s encephalopathy, osmotic demyelinating syndrome associated with extra pontine lesions and Vitamin B12 deficiency states can occassionaly cause confusion in diagnosis. This review considers a few important disorders which manifest with white matter changes on MRI and create diagnostic difficulties in a population in the tropics.

  1. ADHD and autism: differential diagnosis or overlapping traits? A selective review.

    Science.gov (United States)

    Taurines, Regina; Schwenck, Christina; Westerwald, Eva; Sachse, Michael; Siniatchkin, Michael; Freitag, Christine

    2012-09-01

    According to DSM-IV TR and ICD-10, a diagnosis of autism or Asperger Syndrome precludes a diagnosis of attention-deficit/hyperactivity disorder (ADHD). However, despite the different conceptualization, population-based twin studies reported symptom overlap, and a recent epidemiologically based study reported a high rate of ADHD in autism and autism spectrum disorders (ASD). In the planned revision of the DSM-IV TR, dsm5 (www.dsm5.org), the diagnoses of autistic disorder and ADHD will not be mutually exclusive any longer. This provides the basis of more differentiated studies on overlap and distinction between both disorders. This review presents data on comorbidity rates and symptom overlap and discusses common and disorder-specific risk factors, including recent proteomic studies. Neuropsychological findings in the areas of attention, reward processing, and social cognition are then compared between both disorders, as these cognitive abilities show overlapping as well as specific impairment for one of both disorders. In addition, selective brain imaging findings are reported. Therapeutic options are summarized, and new approaches are discussed. The review concludes with a prospectus on open questions for research and clinical practice.

  2. 18F-FDG PET in Parkinsonism: Differential Diagnosis and Evaluation of Cognitive Impairment.

    Science.gov (United States)

    Meyer, Philipp T; Frings, Lars; Rücker, Gerta; Hellwig, Sabine

    2017-12-01

    Accurate differential diagnosis of parkinsonism is of paramount therapeutic and prognostic importance. In addition, with the development of invasive therapies and novel disease-specific therapies, strategies for patient enrichment in trial populations are of growing importance. Imaging disease-specific patterns of regional glucose metabolism with PET and 18 F-FDG allows for a highly accurate distinction between Parkinson disease (PD) and atypical parkinsonian syndromes, including multiple-system atrophy, progressive supranuclear palsy, and corticobasal degeneration. On the basis of a preliminary metaanalysis of currently available studies with inclusion of multiple disease groups, we estimated that the diagnostic sensitivity and specificity for visual PET readings supported by voxel-based statistical analyses for diagnosis of atypical parkinsonian syndromes are 91.4% and 90.6%, respectively. The diagnostic specificity of 18 F-FDG PET for diagnosing multiple-system atrophy, progressive supranuclear palsy, and corticobasal degeneration was consistently shown to be high (>90%), whereas sensitivity was more variable (>75%). It is increasingly acknowledged that cognitive impairment represents a major challenge in PD, with mild cognitive impairment being a prodromal stage of PD with dementia (PDD). In line with clinical and neuropsychologic studies, recent PET studies demonstrated that posterior cortical dysfunction in nondemented PD patients precedes cognitive decline and the development of PDD by several years. Taken together, the current literature underscores the utility of 18 F-FDG PET for diagnostic evaluation of parkinsonism and the promising role of 18 F-FDG PET for assessment and risk stratification of cognitive impairment in PD. © 2017 by the Society of Nuclear Medicine and Molecular Imaging.

  3. Thyrotropin Receptor Autoantibodies in differential diagnosis of hyperthyroidism in children

    Directory of Open Access Journals (Sweden)

    A V Kiyaev

    2006-03-01

    Full Text Available There was investigation carried out in group of 54 children (42 females and 12 males aged between 10.3 and 17.2 years (median - 13. years for the purpose of the estimation of the clinical significance determination of the general autoantibodies to the TSH recepetor (TBII in differential diagnostics hyperthyroidism. In 45 from 54 cases (83.3 % there was Graves’ disease (GD diagnosis set, while high level of TBII was detected amongst 44 from those children (97.8%. Amongst patients with subacute thyroiditis and uninodal toxic goiter together with 7 children, initially estimated by us as “AIT, hyperthyroidism” the values TBII were in limit of reference interval. But for all of that unexpectedly there was detected normal level of Ab-TPO amongst all patients in this group, and - normal echogenic in 6 from 7 cases. From the one hand, high level of Ab-TG and heterogeneous structure may be estimated as particular qualities of hyperthyroidism clinical course during AIT by amongst children. However, absence of the row of diagnostic signs with long-lasting euthyroid condition do not allow us to estimate that cases as hyperthyroidism phase of AIT. From the other hand, we can suppose that we observe the diagnostic of natural clinical course of GD cases in phase of immunological remission. The detection of normal level of TBII in absence of typical clinical signs of GD amongst children with manifestation of hyperthyroidism let us retreat from active therapeutic intervention and choose the method of dynamic observation.

  4. Differential diagnosis between odontogenic keratocyst and ameloblastoma by computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Eun, Sang A; Kim, Kee Deog; Park, Chang Seo [Yonsei University College of Dentistry, Seoul (Korea, Republic of)

    2002-06-15

    The objective of this study is to find the differentiating characteristics of ameloblastomas and odontogenic keratocysts of the jaw by analyzing computed tomography (CT) images of the lesions, clarify radiological characteristics associated with jaw lesions, and to make a diagnosis based on these findings. Test subjects were chosen among the patients who were diagnosed as having an odontogenic keratocyst or ameloblastoma at the Yonsei University Dental Hospital from January 1996 to December 2000 and had CT scans taken preoperatively. The subject pool was comprised of 51 cases of odontogenic keratocyst and 37 cases of ameloblastoma. The following measures were used for image analysis of the lesion : the anatomic location, CT pattern, mesiodistal width, buccolingual width, the ratios between mesiodistal width and buccolingual width, height, CT number, homogeneity of radiodensity, the appearance of a sclerotic rim, continuity of adjacent cortical bone, and displacement and resorption of adjacent teeth. Comparing the CT patten, mesiodistal width, buccolingual width, height, CT number, homogeneity, appearance of sclerotic rim, continuity of adjacent cortical bone, there were statistically significant differences between ameloblastoma and odontogenic keratocyst test subjects (p<0.05). Comparing the ratios between mesiodistal width and buccolingual width, displacement and resorption of adjacent teeth, there were no statistically significant differences (p>0.05). We compared odontogenic keratocysts and ameloblastomas in CT scans. They occurred most frequently in the posterior to the ramus of the mandible. The findings of patterns of the CT images showed that size and border of lesions were more aggressive in ameloblastomas than in odontogenic keratocysts. The internal contents represented an increased attenuation area (IAA) in odontopenic keratocyst. Odontogenic keratocysts were shown to have higher CT numbers than ameloblastomas.

  5. Microscopic Colitis – A Missed Diagnosis in Diarrhea-Predominant Irritable Bowel Syndrome

    Science.gov (United States)

    STOICESCU, Adriana; BECHEANU, Gabriel; DUMBRAVA, Mona; GHEORGHE, Cristian; DICULESCU, Mircea

    2012-01-01

    ABSTRACT Background: Clinical presentation in microscopic colitis (MC) is similar in many cases to that of diarrhea-predominent irritable bowel syndrome (IBS-D). The proper differential diagnosis requires total colonoscopy with multiple biopsies from normal-appearing mucosa and a detailed histopathological exam. Specific treatment may improve symptomatology. Aim: To evaluate the prevalence of MC in patients with an initial diagnosis of IBS-D, to analyse demographic and clinical features of MC patients and to assess the efficacy of specific treatment. Material and methods: Our retrospective study analyzed patients diagnosed with microscopic colitis in clinic during a three-year period. Diagnosis was established on histological exams of the samples obtained during colonoscopy in patients previously thought to have IBS-D. We evaluated clinical manifestations, time lapsed from their onset to definitive diagnosis, the association of MC with autoimmune diseases or with prior medication and the efficacy of treatment with budesonide or mesalazine. Results: From 247 patients considered to have IBS-D, 15 patients (6.07%) had actually MC (13 lymphocytic colitis and 2 collagenous colitis). MC was associated with nonsteroidal antiinflammatory drugs (3 patients), Lansoprazole (2 patients) and autoimmune diseases (6 patients). Watery, non-bloody diarrhea was present in all patients with MC. Other frequent complaints were nocturnal diarrhea (11 patients), abdominal pain (8 patients), abdominal bloating and flatulence (8 patients) and slight weight loss (6 patients). The diagnostic samples were obtained from the right colon in 6 cases and from rectosigmoid or transverse colon in 9 patients. Treatment was initial symptomatic in all patients, but there were 5 patients that required mesalazine and/or Budesonide, with favourable outcome. Conclusions: All the patients thought to have diarrhea-irritable bowel syndrome should be evaluated for microscopic colitis. Symptomatology is almost

  6. The startle syndromes : Physiology and treatment

    NARCIS (Netherlands)

    Dreissen, Yasmine E. M.; Tijssen, Marina A. J.

    2012-01-01

    Startle syndromes are paroxysmal and show stimulus sensitivity, placing them in the differential diagnosis of epileptic seizures. Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and neuropsychiatric syndromes. HPX is

  7. The startle syndromes: Physiology and treatment

    NARCIS (Netherlands)

    Dreissen, Yasmine E. M.; Tijssen, Marina A. J.

    2012-01-01

    Startle syndromes are paroxysmal and show stimulus sensitivity, placing them in the differential diagnosis of epileptic seizures. Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and neuropsychiatric syndromes. HPX is

  8. CT diagnosis and differential diagnosis of otodystrophic lesions of the temporal bone

    Energy Technology Data Exchange (ETDEWEB)

    D' Archambeau, O.; Parizel, P.M.; Schepper, A.M. De (Antwerp University Hospital (Belgium). Department of Radiology); Koekelkoren, E.; Van De Heyning, P. (Antwerp University Hospital (Belgium). Department of E.N.T.)

    The purpose of this study was to assess the diagnostic and differential diagnostic value of high-resolution computed tomography in the evaluation of temporal-bone dystrophies. The study group included 55 patients with osseous abnormalities of the temporal bone in general, and the labyrinthine capsule in particular. In 27 patients the CT scan revealed evidence of otodystrophic lesions. The CT findings in patients with otosclerosis (21 patients), osteogenesis imperfecta (two patients), fibrous dysplasia (one patient). Paget's disease (one patient) and osteoporosis (two patients) are described. The CT scans of 17 patients revealed secondary osseous lesions due to metastasis (five patients), post-inflammatory changes (10 patients) or labyrinthitis ossificans (two patients). Normal variants and congenital mineralization defects were diagnosed in nine patients, Down's syndrome in two. Our results indicate the importance of high-resolution computed tomography as the primary imaging modality in evaluating osseous lesions of the temporal bone and labyrinth. (author). 14 refs.; 13 figs; 2 tabs.

  9. [Overview and prospect of syndrome differentiation of hypertension in traditional Chinese medicine].

    Science.gov (United States)

    Yang, Xiao-Chen; Xiong, Xing-Jiang; Wang, Jie

    2014-01-01

    This article is to overview the literature of syndrome differentiation of traditional Chinese medicine on hypertension. According to the theory of disease in combination with syndrome, we concluded syndrome types of hypertension in four aspects, including national standards, industry standards, teaching standards and personal experience. Meanwhile, in order to provide new methods and approaches for normalized research, we integrated modern testing methods and statistical methods to analyze syndrome differentiation for the treatment of hypertension.

  10. Diagnosis and treatment of hand-arm vibration syndrome and its relationship to carpal tunnel syndrome.

    Science.gov (United States)

    Falkiner, Sonja

    2003-07-01

    Hand-arm vibration syndrome (HAVS) is a condition associated with the use of vibrating tools that occurs mainly in men. It consists primarily of 'occupational' Raynaud disease and digital polyneuropathy. Carpal tunnel syndrome (CTS) is also associated with hand transmitted vibration exposure and can coexist with HAVS. This article examines recent papers on causation, diagnosis, relationship to CTS and treatment. A Medline search was conducted, as was a search of UK, USA and Australian government occupational health and safety websites. Published papers that were single case studies or of poor design were not included. There are no 'gold standard' diagnostic tests for HAVS. It can mimic CTS in temperate climates and can occur with CTS. This is the diagnostic challenge when a male worker presents with apparent CTS symptoms. If he has worked with vibrating tools for many years, a diagnosis of HAVS or co-diagnosis of HAVS should be considered before a diagnosis of pure CTS is made. Nonwork risk factors for HAVS are predisposition, smoking, and exposure to vibration outside work. Cessation of exposure (and smoking) and redeployment is a critical part of treatment due to the dose response relationship of HAVS. This contrasts with adequately treated CTS, where the vast majority of workers can return to pre-injury duties. In severe cases, calcium antagonists are also used, but treatment is often ineffective. Few workplaces in Australia manage vibration risk or conduct screening to identify workers with early HAVS who should be redeployed. Local doctors have an important opportunity to diagnose HAVS and to make recommendations to the workplace on redeployment as part of treatment before symptoms become irreversible.

  11. CT manifestation of the carcinoma of ovary: diagnosis and differential diagnosis

    International Nuclear Information System (INIS)

    Liu Mingjuan; Guo Yan; Zhang Ling; Huang Zhaomin

    2007-01-01

    Objective: To study the CT manifestations of carcinoma of ovary and the CT findings that mimic the carcinoma of ovary. Methods: CT findings were retrospectively studied in 47 cases of pelvic masses including 42 cases of carcinoma of ovary and 5 misdiagnosed as carcinoma of ovary. Misdiagnosis was made in 8 of the 42 cases of carcinoma of ovary. Non-contrast and enhanced CT scan were performed in all cases. Results: Pelvic or abdominal-pelvic masses were demonstrated in 92.4% cases. The lesions were parenchymatous, cystic, or cystic-parenchymatous masses, in which the parenchyma and septum were remarkably enhanced after the contrast agent was given intravenously. No mass was found in 7.6% cases, in which the ascites and thickening of the omentum were noted on CT images. Ascites was shown in 57.2% cases. Calicification was manifested in 19.0% cases. Abscess or tuberculosis located in pelvis could have the similar CT findings with cystic carcinoma of ovary, while these infectious lesions presented with regular or smooth wall and septum, instead of mural nodule. Another characteristic sign of abscess or tuberculosis was air density identified within the cavity of the cysts. Chocolate cysts with recent hemorrhage or subserous leiomyoma uteri with cystic degeneration were cystic-parenchymatous mass during the non-contrast enhanced scan. No enhancement could be revealed in parenchyma of the former and slight enhancement could be identified in the parenchymatous component of the latter. Conclusion: Contrast enhanced CT scan can demonstrate the structure of the mass and the adjacent organs, and reveal the enhancement of the lesions, which plays a valuable role in diagnosis or differential diagnosis of carcinoma of ovary with atypical CT findings. (authors)

  12. Neonatal Respiratory Distress Syndrome: Early Diagnosis, Prevention, and Treatment

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2012-01-01

    Full Text Available to improve treatment results in premature infants with neonatal respiratory distress syndrome (NRDS, by establishing developmental mechanisms and elaborating methods for its early diagnosis, treatment, and prevention. Material and methods. The paper analyzes the results of a clinical observation and laboratory, instrumental, immunological, morphological, and radiological studies of 320 premature neonates at 26—35 weeks gestational age. The following groups of neonates were identified: 1 40 premature neonatal infants without NRDS and with the physiological course of an early neonatal period (a comparison group; 2 190 premature neonates with severe NRDS in whom the efficiency of therapy with exogenous surfactants, such as surfactant BL versus curosurf, was evaluated; 3 90 premature newborn infants who had died from NRDS at its different stages. Results. The poor maternal somatic, obstetric, and gynecological histories in the early periods of the current pregnancy create prerequisites for its termination, favor the development of severe acute gestosis, and cause abnormal placental changes. Each gestational age is marked by certain placental changes that promote impaired uterineplacentalfetal blood flow and premature birth. Alveolar and bronchial epithelial damages, including those ante and intranatally, microcircula tory disorders play a leading role in the tanatogenesis of NRDS. Intranatal hypoxia and amniotic fluid aspiration are one of the important factors contributing to alveolar epithelial damage and NRDS in premature neonates. Exogenous surfactants prevent the development of hyaline membranes and are useful in the normalization of ventilation-perfusion relationships and lung biomechanical properties. Conclusion. This study could improve the diagnosis and treatment of NRDS, which assisted in reducing the duration of mechanical ventilation from 130±7.6 to 65±11.6 hours, the number of complications (the incidence of intragastric

  13. Diagnosis of antiphospholipid syndrome in routine clinical practice

    Science.gov (United States)

    Hills, J; Machin, SJ; Cohen, H

    2013-01-01

    The updated international consensus criteria for definite antiphospholipid syndrome (APS) are useful for scientific clinical studies. However, there remains a need for diagnostic criteria for routine clinical use. We audited the results of routine antiphospholipid antibodies (aPLs) in a cohort of 193 consecutive patients with aPL positivity-based testing for lupus anticoagulant (LA), IgG and IgM anticardiolipin (aCL) and anti-ß2glycoprotein-1 antibodies (aß2GPI). Medium/high-titre aCL/aβ2GPI was defined as >99th percentile. Low-titre aCL/aβ2GPI positivity (>95th < 99th percentile) was considered positive for obstetric but not for thrombotic APS. One hundred of the 145 patients fulfilled both clinical and laboratory criteria for definite APS. Twenty-six women with purely obstetric APS had persistent low-titre aCL and/or aβ2GPI. With the inclusion of these patients, 126 of the 145 patients were considered to have APS. Sixty-seven out of 126 patients were LA-negative, of whom 12 had aCL only, 37 had aβ2GPI only and 18 positive were for both. The omission of aCL or aβ2GPI testing from investigation of APS would have led to a failure to diagnose APS in 9.5% and 29.4% of patients, respectively. Our data suggest that LA, aCL and aβ2GPI testing are all required for the accurate diagnosis of APS and that low-titre antibodies should be included in the diagnosis of obstetric APS. PMID:22988029

  14. Using machine learning techniques to differentiate acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Sougand Setareh

    2015-02-01

    Full Text Available Backgroud: Acute coronary syndrome (ACS is an unstable and dynamic process that includes unstable angina, ST elevation myocardial infarction, and non-ST elevation myocardial infarction. Despite recent technological advances in early diognosis of ACS, differentiating between different types of coronary diseases in the early hours of admission is controversial. The present study was aimed to accurately differentiate between various coronary events, using machine learning techniques. Such methods, as a subset of artificial intelligence, include algorithms that allow computers to learn and play a major role in treatment decisions. Methods: 1902 patients diagnosed with ACS and admitted to hospital were selected according to Euro Heart Survey on ACS. Patients were classified based on decision tree J48. Bagging aggregation algorithms was implemented to increase the efficiency of algorithm. Results: The performance of classifiers was estimated and compared based on their accuracy computed from confusion matrix. The accuracy rates of decision tree and bagging algorithm were calculated to be 91.74% and 92.53%, respectively. Conclusion: The proposed methods used in this study proved to have the ability to identify various ACS. In addition, using matrix of confusion, an acceptable number of subjects with acute coronary syndrome were identified in each class.

  15. Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

    Directory of Open Access Journals (Sweden)

    F.B. Scalco

    2003-10-01

    Full Text Available Smith-Lemli-Opitz syndrome (SLOS is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta7-sterol-reductase, responsible for the conversion of 7-dehydrocholesterol (7-DHC to cholesterol, causes an increase in 7-DHC and frequently reduces plasma cholesterol levels. The clinical diagnosis of SLOS cannot always be conclusive because of the remarkable variability of clinical expression of the disorder. Thus, confirmation by the measurement of plasma 7-DHC levels is needed. In the present study, we used a simple, fast, and selective method based on ultraviolet spectrophotometry to measure 7-DHC in order to diagnose SLOS. 7-DHC was extracted serially from 200 µl plasma with ethanol and n-hexane and the absorbance at 234 and 282 nm was determined. The method was applied to negative control plasma samples from 23 normal individuals and from 6 cases of suspected SLOS. The method was adequate and reliable and 2 SLOS cases were diagnosed.

  16. Tarsaltunnel syndrome - MRI diagnosis; Tarsaltunnelsyndrom. MR-Diagnostik

    Energy Technology Data Exchange (ETDEWEB)

    Trattnig, S. [Universitaetsklinik fuer Radiodiagnostik, Wien (Austria). Abt. fuer Osteoradiologie; Breitenseher, M. [Universitaetsklinik fuer Radiodiagnostik, Wien (Austria). Abt. fuer Osteoradiologie; Haller, J. [Radiologische Abt., Hanuschkrankenhaus, Wien (Austria)]|[Ludwig Boltzmann-Institut fuer Osteologie, Wien (Austria); Helbich, T. [Universitaetsklinik fuer Radiodiagnostik, Wien (Austria). Abt. fuer Osteoradiologie; Gaebler, C. [Universitaetsklinik fuer Unfallchirurgie, Wien (Austria); Imhof, H. [Universitaetsklinik fuer Radiodiagnostik, Wien (Austria). Abt. fuer Osteoradiologie

    1995-07-01

    Clinical findings and symptoms of tarsal tunnel are commonly vague and diffuse and electrodiagnostic studies do not provide definitive diagnosis. MR imaging with its excellent soft tissue contrast can demonstrate clearly the anatomy of the tarsal tunnel and its contents. MRI is able to demonstrate a space-occypyinglesion and its relationship to the posterior tibial nerve and its branches. This information aids in surgical planning by determining the extent of the decompression required. MR imaging may also be used to follow up non-surgical causes of tarsal tunnel syndrome such as tenosynovitis. (orig.) [Deutsch] Klinische Befunde und Symptomoe des Tarsaltunnelsyndroms sind haeufig diffus, und elektrodiagnostische Untersuchungen liefern keine definitive Diagnose. Die MRT mit ihrem exzellenten Weichteilkontrast erlaubt eine ausgezeichnete Darstellung der Anatomie des Tarsaltunnels und seines Inhaltes. Die MRT ermoeglicht auch die Darstellung von raumfordernden Laesionen und ihre Beziehung zum N.tibialis posterior bzw. seiner Aeste. Diese Information hilft in der chirurigschen Planung, in dem das Ausmass der notwendigen Dekompression bestimmt werden kann. Die MRT ist auch geeignet als nichtinvasive Verlaufskontrolle von Ursachen eines Tarsaltunnelsyndroms, die keinen chirugischen Eingriff erfordern wie z.B. einer Tenosynovitis. (orig.)

  17. Diagnosis and Challenges of Polycystic Ovary Syndrome in Adolescence

    Science.gov (United States)

    Agapova, Sophia E.; Cameo, Tamara; Sopher, Aviva B.; Oberfield, Sharon E.

    2015-01-01

    Although the diagnostic criteria for polycystic ovary syndrome (PCOS) have become less stringent over the years, determination of the minimum diagnostic features in adolescents is still an area of controversy. Of particular concern is that many of the features considered to be diagnostic for PCOS may evolve over time and change during the first few years after menarche. Nonetheless, attempts to define young women who may be at risk for development of PCOS is pertinent since associated morbidity such as obesity, insulin resistance, and dyslipidemia may benefit from early intervention. The relative utility of diagnostic tools such as persistence of anovulatory cycles, hyperandrogenemia, hyperandrogenism (hirsutism, acne, or alopecia), or ovarian findings on ultrasound is not established in adolescents. Some suggest that even using the strictest criteria, the diagnosis of PCOS may not valid in adolescents younger than 18 years. In addition, evidence does not necessarily support that lack of treatment of PCOS in younger adolescents will result in untoward outcomes since features consistent with PCOS often resolve with time. The presented data will help determine if it is possible to establish firm criteria which may be used to reliably diagnose PCOS in adolescents. PMID:24715514

  18. Restless Legs Syndrome: From Pathophysiology to Clinical Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Shiyi Guo

    2017-06-01

    Full Text Available Restless legs syndrome (RLS, a common neurological sensorimotor disorder in western countries, has gained more and more attention in Asian countries. The prevalence of RLS is higher in older people and females. RLS is most commonly related to iron deficiency, pregnancy and uremia. The RLS symptoms show a significant circadian rhythm and a close relationship to periodic limb movements (PLMs in clinical observations, while the pathophysiological pathways are still unknown. The diagnostic criteria have been revised in 2012 to improve the validity of RLS diagnosis. Recent studies have suggested an important role of iron decrease of brain in RLS pathophysiology. Dopaminergic (DA system dysfunction in A11 cell groups has been recognized long ago from clinical treatment and autopsy. Nowadays, it is believed that iron dysfunction can affect DA system from different pathways and opioids have a protective effect on DA system. Several susceptible single nucleotide polymorphisms such as BTBD9 and MEIS1, which are thought to be involved in embryonic neuronal development, have been reported to be associated with RLS. Several pharmacological and non-pharmacological treatment are discussed in this review. First-line treatments of RLS include DA agents and α2δ agonists. Augmentation is very common in long-term treatment of RLS which makes prevention and management of augmentation very important for RLS patients. A combination of different types of medication is effective in preventing and treating augmentation. The knowledge on RLS is still limited, the pathophysiology and better management of RLS remain to be discovered.

  19. RESTLESS LEGS SYNDROME

    Directory of Open Access Journals (Sweden)

    Dmitriy Valer'evich Artem'ev

    2009-01-01

    Full Text Available The paper describes the epidemiology, etiology, pathogenesis, clinical picture, diagnosis, differential diagnosis, and treatment of restless legs syndrome. Recommendations are given how to choose therapeutic modalities and drugs in relation to different factors.

  20. The Symptomatology and Diagnosis of Gilles de la Tourette's Syndrome

    Science.gov (United States)

    Shapiro, Arthur; And Others

    1973-01-01

    The symptomatology of 34 patients with Gilles de la Tourette's syndrome was described in detail. The purpose was to clarify the diagnostic criteria for Tourette's syndrome by describing the type, variety, and frequency of symptoms in this illness. (Author)

  1. Differential diagnosis algorithm of endogenous catatonia, catatonia-morphic and catatonia-mimicking states

    Directory of Open Access Journals (Sweden)

    D. N. Safonov

    2017-08-01

    Full Text Available Subject relevance. The process of mental pathology pathomorphosis leads to the polymorphism of its clinical manifestations and, as a consequence – to difficulties in identification and differential diagnosis. The solution to this problem is in the adaption of diagnostic methodology to clinical realities by including into their structure instruments formed basing on pathomorphosis factors and trends. In this perspective, the most prominent example is endogenous catatonia, which in the academic tradition is conventionally affiliated with the form of schizophrenia with the same name. According to the classical understanding, endogenous catatonia, or, in the narrow sense – catatonic syndrome, is a group of intermittent motor disorders, arranged with polymorphic shell constellation of neuropsychiatric manifestations. The aim is to develop pathomorphosis adapted clinical algorithm of endogenous catatonia differential diagnostics. Materials and methods: 236 patients of Zaporizhzhia Regional Psychiatric Clinic were examined. Patients were divided into groups due to their mental disorders: – core group: patients with elements of endogenous catatonia in the structure of different clinical forms of schizophrenia (there were 144 patients in this group; – comparison group #1: 69 patients with late neurotropic effects of neuroleptic therapy (LNENT; – comparison group #2: 103 patients with catatonia-morphic dissociative disorders (CDD; – comparison group #3: 90 patients with organic catatonic disorder (OrCD; Results. Using Bush-Francis Catatonia Rating scale as an instrument of clinical analysis and statistical research of results with A. Wald’s sequential analysis (modificated by E. V. Gubler an algorithm of differential diagnostics of endogenus catatonia which includes 3 steps of Recognition Scale for Endogenous Catatonia is developed. Conclusion. Designed scales have a number of categorical differences from existing analogues, foremost by

  2. Infectious diseases of the brain: imaging and differential diagnosis; Infektioese Hirnerkrankungen: Bildgebung und differenzialdiagnostische Aspekte

    Energy Technology Data Exchange (ETDEWEB)

    Haehnel, S.; Seitz, A. [Abt. Neuroradiologie, Neurologische Klinik, Universitaetsklinikum Heidelberg (Germany); Storch-Hagenlocher, B. [Abt. Neurologie, Neurologische Klinik, Universitaetsklinikum Heidelberg (Germany)

    2006-09-15

    Infectious diseases of the central nervous system have to be considered in differential diagnosis particularly in immunocompromised persons. Neuro-imaging, specifically advanced techniques such as diffusion weighted MRI and perfusion MRI contribute much to the differentiation of brain infections and for differentiating brain infections from other, for instance, neoplastic diseases. In this review we present the imaging criteria of the most important brains infections in adults and in pediatric patients and discuss differential diagnostic aspects in detail. (orig.)

  3. Differential diagnosis of rheumatic illnesses. 4. compl. rev. and enl. ed.

    International Nuclear Information System (INIS)

    Zeidler, Henning; Michel, Beat

    2009-01-01

    The number of the possible differential diagnosis of rheumatic illnesses is extraordinarily high. This circumstance makes the diagnostics a difficult field with numerous pitfalls. The correct and complete diagnosis however is a condition for the correct therapy. This book facilitates this way from the symptom to the diagnosis for the reader: A detailed representation of the fundamentals (anamnesis, investigation findings, laboratory diagnostics and imaging) a detailed description of all important differential diagnosis follows. The meanwhile fourth edition of this standard work was completely revised and updated. An indispensable guide book for all persons which treat patients with rheumatic illnesses [de

  4. A NORMAL BRADYSYSTOLIC FORM OF ATRIAL FIBRILLATION (FREDERICQ’S SYNDROME: LATE DIAGNOSIS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    N. Ye. Trekina

    2014-11-01

    Full Text Available It is presented a case of delayed diagnosis brad systole against permanent atrial fibrillation (syndrome Frederick which became to syncope patient and to the later implanting of pacemaker.

  5. 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

  6. 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.

  7. 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...

  8. Síndrome de Hopkins no diagnóstico diferencial das paralisias flácidas na infância: aspectos clínicos e neurofisiológicos. Relato de caso Hopkins' syndrome in the differential diagnosis of flaccid paralysis in children: clinical and neurophysiological features. Case report

    Directory of Open Access Journals (Sweden)

    Daniel B. Nora

    2003-06-01

    days later he initiated with loss of strength in the lower limbs (LL. The patient was dismissed from hospital better of his respiratory complains but still paraparetic. Five months later, the patient returned with another episode of severe bronchospasm. At that time, he presented with flaccid paralysis, arreflexia and atrophy of the LL. There were no upper limbs and sensory abnormalities. The patient undergone to lumbar puncture, spinal MRI and SEPs which were all normal. MUSCLE BIOPSY: type grouping. EMG and NCS were in keeping with motor neuron disease affecting just the lumbosacral region. CONCLUSION: Hopkins syndrome should be included in the differential diagnosis of any flaccid paralysis when it is associated with an asthma attack..

  9. Differential diagnosis of neurodegenerative diseases using structural MRI data

    Directory of Open Access Journals (Sweden)

    Juha Koikkalainen

    2016-01-01

    The results prove that automatic quantification methods and computerized decision support methods are feasible for clinical practice and provide comprehensive information that may help clinicians in the diagnosis making.

  10. Hemichorea, parkinson's disease or somatoform disorder? A hard differential diagnosis

    Directory of Open Access Journals (Sweden)

    David Gonçalves Nordon

    2010-12-01

    Full Text Available ABSTRACT: The diagnosis of movement disorders can be quite complex, as its causes may be both organic and psychogenic. We present the case of a 62 year old woman, with a 12 year old history of movement disorder, whose treatment has been insufficient and possibly inadequate, and her diagnosis has been doubtful and not yet defined. We discuss our diagnostic methods and empirical treatments, looking for the best for our patient.

  11. Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

    NARCIS (Netherlands)

    M.G.F. van Lier (Margot); S.E. Korsse (Susanne); E.M.H. Mathus-Vliegen (Elisabeth); E.J. Kuipers (Ernst); A.M.W. van den Ouweland (Ans); K. Vanheusden (Kathleen); M.E. van Leerdam (Monique); A. Wagner (Anja)

    2012-01-01

    textabstractPeutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and

  12. Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

    NARCIS (Netherlands)

    van Lier, Margot G. F.; Korsse, Susanne E.; Mathus-Vliegen, Elisabeth M. H.; Kuipers, Ernst J.; van den Ouweland, Ans M. W.; Vanheusden, Kathleen; van Leerdam, Monique E.; Wagner, Anja

    2012-01-01

    Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and pregnancy

  13. Is Reye's syndrome still a valid diagnosis? | du Toit-Prinsloo | South ...

    African Journals Online (AJOL)

    The exact aetiology of the syndrome is unknown, but there is an association with viral infections and the use of aspirin. There has been a sharp decline in the incidence of Reye's syndrome; the reasons for this are unclear, but may be due, in part, to the declining use of aspirin in children and to improvements in the diagnosis ...

  14. Anterior interosseous nerve syndrome diagnosis and intraoperative findings: A case report

    Directory of Open Access Journals (Sweden)

    Abdulla Aljawder

    2016-01-01

    Conclusion: Clinical suspicion should arise in the presence of isolated paralysis of the AIN-supplied muscles. MRI and electrodiagnostic studies will confirm the diagnosis and identify the etiology. The optimal treatment of AIN syndrome has not been established. We recommend surgical intervention in confirmed AIN syndrome from compression neuropathy, refractive to conservative therapy.

  15. Diagnosis of fetal syndromes by three- and four-dimensional ultrasound: is there any improvement?

    Science.gov (United States)

    Barišić, Lara Spalldi; Stanojević, Milan; Kurjak, Asim; Porović, Selma; Gaber, Ghalia

    2017-08-28

    With all of our present knowledge, high technology diagnostic equipment, electronic databases and other available supporting resources, detection of fetal syndromes is still a challenge for healthcare providers in prenatal as well as in the postnatal period. Prenatal diagnosis of fetal syndromes is not straightforward, and it is a difficult puzzle that needs to be assembled and solved. Detection of one anomaly should always raise a suspicion of the existence of more anomalies, and can be a trigger to investigate further and raise awareness of possible syndromes. Highly specialized software systems for three- and four-dimensional ultrasound (3D/4D US) enabled detailed depiction of fetal anatomy and assessment of the dynamics of fetal structural and functional development in real time. With recent advances in 3D/4D US technology, antenatal diagnosis of fetal anomalies and syndromes shifted from the 2nd to the 1st trimester of pregnancy. It is questionable what can and should be done after the prenatal diagnosis of fetal syndrome. The 3D and 4D US techniques improved detection accuracy of fetal abnormalities and syndromes from early pregnancy onwards. It is not easy to make prenatal diagnosis of fetal syndromes, so tools which help like online integrated databases are needed to increase diagnostic precision. The aim of this paper is to present the possibilities of different US techniques in the detection of some fetal syndromes prenatally.

  16. Secondary Diabetes Mellitus in Patients with Endogenous Cushing’s Syndrome - Clinical Characteristics at Diagnosis

    OpenAIRE

    Căpăţînă Cristina; Baciu Ionela; Greere Daniela; Caragheorgheopol Andra; Poiană Cătălina

    2018-01-01

    Background and aims. Endogenous Cushing’s syndrome is a rare disease associated with severe morbidity and increased mortality if untreated. Diabetes mellitus is a frequent initial complaint of these patients. Our aim was to investigate the clinical characteristics at the time of diagnosis in a cohort of patients with endogenous Cushing’s syndrome (CS).

  17. Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

    OpenAIRE

    Tahir M. Malla; Arshad A. Pandith; Fayaz A. Dar; Mahrukh H. Zargar

    2016-01-01

    There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister) chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conve...

  18. Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome.

    Science.gov (United States)

    Reimann, Gabrielle E; Bernad Perman, Martha M; Ho, Pei-Shu; Parks, Rebecca A; Comis, Leora E

    2018-05-09

    To characterize the psychosocial profiles of adult women diagnosed with Turner syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age. Women with Turner syndrome ages 22 and older at evaluation (n = 110) participated in a cross-sectional study at the National Institutes of Health. Researchers performed nonparametric and logistic regression analyses to assess early and late diagnosis cohorts on measures of depression, substance use, and perceptions of competence and identity. Of study participants, 47% received a Turner syndrome diagnosis at or after age 13 years. Median age at diagnosis was 12.0 years (range, 0-43). Covariate-adjusted models revealed that women with late diagnoses had an increased likelihood of developing mild to severe depressive symptoms (OR,  7.36) and a decreased likelihood of being perceived as competent (OR, 0.26). Women with a late diagnosis also exhibited more frequent substance use compared with women with early diagnoses. These data suggest that Turner syndrome diagnoses received at or after age 13 years may contribute to adverse outcomes related to depression, substance use, and perceptions of competence. Delayed Turner syndrome diagnoses may place women and girls at risk for negative psychosocial development extending into adulthood. These findings indicate it is important for pediatricians to evaluate psychosocial domains in girls with Turner syndrome regularly, particularly among those diagnosed at age 13 years or older. ClinicalTrials.gov: NCT00006334. Published by Elsevier Inc.

  19. Posterior reversible encephalopathy syndrome: diagnosis with CT and MRI

    International Nuclear Information System (INIS)

    Wang Guangbin; Zhao Bin; Yang Zhenzhen; Shi Hao; Chiu, L.C.; Shan Ruiqin

    2006-01-01

    Objective: To evaluate the role of CT and MRI in the diagnosis of posterior reversible encephalopathy syndrome (PRES). Methods: Eight women with PRES (6 pregnant women, 1 case after chemotherapy, and 1 patient with hypertension)were enrolled in our study. All of them had MR imaging (T 1 WI, T 2 WI, FLAIR, DWI), and five cases underwent post-contrast T 1 WI and three dimensional contrast enhanced MR angiography (3D CEMRA). Two cases also had CT scan. Results: MRV in all 8 patients showed no evidence of stenosis, dilation, or thrombosis in cranial veins and sinuses. MRI demonstrated multiple lesions located in bilateral parieto-occipital lobes (8 cases), bilateral basal ganglia (2 cases), and bilateral frontal lobes (4 cases). The lesions were prominent within white matter, some of them involved gray matter (3 cases). Lesions appeared as hyperintense signals on FLAIR and T 2 -weighted images, isointense or mildly hypointense signals on T 1 -weighted images, normal or decreased intensity on DWI, and isointensity or hyperintensity on apparent diffusion coefficient (ADC) maps. Post-contrast T 1 WI showed mild reversible enhancement and 3D CEMRA displayed numerous reversible 'grape-like' enhancements in terminal arterial branches along the middle cerebral artery (MCA), anterior cerebral artery (ACA) and posterior cerebral artery (PCA). Follow-up scan showed decreased abnormal signals. Conclusion: Lesions of PRES are usually located in parieto-occipital lobes, especially in white matter, but they can also be seen in frontal lobes and basal ganglia bilaterally. Post-contrast T 1 WI and 3D enhanced MRA can provide useful information in the manifestation of reversible enhancement. MRI has advantages to display lesion in PRES. (authors)

  20. Differential Diagnosis of Patients with Inconclusive Parkinsonian Features Using [{sup 18}F]FP-CIT PET/CT

    Energy Technology Data Exchange (ETDEWEB)

    Park, Eunkyung; Hwang, Yu Mi; Lee, Channyoung; Oh, Sun Young; Kim, Young Chul; Choe, Jae Gol; Park, Kun Woo [Korea Univ., Seoul (Korea, Republic of); Kim, Sujin [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

    2014-06-15

    It is often difficult to differentiate parkinsonism, especially when patients show uncertain parkinsonian features. We investigated the usefulness of dopamine transporter (DAT) imaging for the differential diagnosis of inconclusive parkinsonism using [{sup 18}F]FP-CIT PET. Twenty-four patients with inconclusive parkinsonian features at initial clinical evaluation and nine healthy controls were studied. Patients consisted of three subgroups: nine patients whose diagnoses were unclear concerning whether they had idiopathic Parkinson's disease or drug-induced parkinsonism ('PD/DIP'), nine patients who fulfilled neither the diagnostic criteria of PD nor of essential tremor ('PD/ET'), and six patients who were alleged to have either PD or atypical parkinsonian syndrome ('PD/APS'). Brain PET images were obtained 120 min after injection of 185 MBq [{sup 18}F]FP-CIT. Imaging results were quantified and compared with follow-up clinical diagnoses. Overall, 11 of 24 patients demonstrated abnormally decreased DAT availability on the PET scans, whereas 13 were normal. PET results could diagnose PD/DIP and PD/ET patients as having PD in six patients, DIP in seven, and ET in five; however, the diagnoses of all six PD/APS patients remained inconclusive. Among 15 patients who obtained a final follow-up diagnosis, the image-based diagnosis was congruent with the follow-up diagnosis in 11 patients. Four unsolved cases had normal DAT availability, but clinically progressed to PD during the follow-up period. [{sup 18}F]FP-CIT PET imaging is useful in the differential diagnosis of patients with inconclusive parkinsonian features, except in patients who show atypical features or who eventually progress to PD.

  1. Cannabinoid hyperemesis and the cyclic vomiting syndrome in adults: recognition, diagnosis, acute and long-term treatment

    Directory of Open Access Journals (Sweden)

    Blumentrath, Christian G.

    2017-03-01

    Full Text Available The cannabinoid hyperemesis syndrome (CHS and the cyclic vomiting syndrome in adults (CVS are both characterized by recurrent episodes of heavy nausea, vomiting and frequently abdominal pain. Both syndromes are barely known among physicians. Literature is inconsistent concerning clinical features which enable differentiation between CVS and CHS. We performed a literature review using the LIVIVO search portal for life sciences to develop a pragmatic approach towards these two syndromes. Our findings indicate that complete and persistent resolution of all symptoms of the disease following cannabis cessation is the only reliable criterion applicable to distinguish CHS from CVS. Psychiatric comorbidities (e.g. panic attacks, depression, history of migraine attacks and rapid gastric emptying may serve as supportive criteria for the diagnosis of CVS. Compulsive bathing behaviour, a clinical observation previously attributed only to CHS patients is equally present in CVS patients. Long-term follow-up is essential in order to clearly separate CHS from CVS. However, long-term follow-up of CVS and CHS cases is seldom. We provide a standard operating procedure applicable to a broad spectrum of health care facilities which addresses the major issues of CVS and CHS: awareness, diagnosis, treatment, and follow-up.

  2. Aging With Down Syndrome: The Dual Diagnosis: Alzheimer's Disease and Down Syndrome.

    Science.gov (United States)

    Cipriani, Gabriele; Danti, Sabrina; Carlesi, Cecilia; Di Fiorino, Mario

    2018-06-01

    People with Down syndrome (DS) enjoy a longer life expectancy now than they ever have before and are therefore at greater risk of developing conditions associated with aging, including dementia. To explore the phenomenon of dementia in DS. Medline and Google Scholar searches were conducted for relevant articles, chapters, and books published until 2017. Search terms included Alzheimer's disease, cognitive impairment, dementia, DS, and trisomy 21. Publications found through this indexed search were reviewed for further references. Virtually, all subject aged 35 to 40 show key neuropathologic changes characteristic of Alzheimer's disease, but only a part of them show clinical signs of dementia, usually around the age of 50 years. Early signs of dementia in people with DS may be different from those experienced by the general population. Failure to recognize this can delay diagnosis and subsequent interventions.

  3. Clinicoradiologic Differential Diagnosis of Odontogenic Keratocyst and Ameloblastoma

    International Nuclear Information System (INIS)

    Jeong, Ho Gul; Lee, Jang Yeol; Kim, Kee Deog; Park, Chang Seo

    2000-01-01

    To clarify the clinical and radiologic parameters that can be used to differentiate odontogenic keratocyst and ameloblastoma. The records of 46 patients of ameloblstoma and 48 patients of odontogenic keratocyst at the Yonsei University Dental Hospital during the period of 1979 to 1995 were retrospectively reviewed. As a possible means for differentiating between the odontogenic keratocyst and ameloblastoma, the clinical parameters and the radiologic parameters were evaluated. In the clinical parameters, there was no significant deference in age, sex, and sign and symptoms (p>0.05).In the radiologic parameters, there was significant difference in site, shape of the lesion, and external root resorption of adjacent teeth (p<0.05). The site, shape of the lesion, and external root resorption of adjacent teeth can be the parameters to differentiate odontogenic keratocyst and ameloblastoma, but a definite differentiation of these two lesions needs a more specialized imaging modality.

  4. Clinicoradiologic Differential Diagnosis of Odontogenic Keratocyst and Ameloblastoma

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Ho Gul; Lee, Jang Yeol; Kim, Kee Deog; Park, Chang Seo [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Yensei University, Seoul (Korea, Republic of)

    2000-12-15

    To clarify the clinical and radiologic parameters that can be used to differentiate odontogenic keratocyst and ameloblastoma. The records of 46 patients of ameloblstoma and 48 patients of odontogenic keratocyst at the Yonsei University Dental Hospital during the period of 1979 to 1995 were retrospectively reviewed. As a possible means for differentiating between the odontogenic keratocyst and ameloblastoma, the clinical parameters and the radiologic parameters were evaluated. In the clinical parameters, there was no significant deference in age, sex, and sign and symptoms (p>0.05).In the radiologic parameters, there was significant difference in site, shape of the lesion, and external root resorption of adjacent teeth (p<0.05). The site, shape of the lesion, and external root resorption of adjacent teeth can be the parameters to differentiate odontogenic keratocyst and ameloblastoma, but a definite differentiation of these two lesions needs a more specialized imaging modality.

  5. Differential diagnosis using the MMPI-2: Goldberg's index revisited

    NARCIS (Netherlands)

    Egger, J.I.M.; Delsing, P.A.M.; Mey, H.R.A. De

    2003-01-01

    Background. – The Minnesota Multiphasic Personality Inventory (MMPI-2) often supports clinical decision-making in complex diagnostic problems like differentiating neurosis from psychosis and psychosis from bipolar disorder. The MMPI Goldberg index, an arithmetical combination of five clinical

  6. MassTag Polymerase Chain Reaction for Differential Diagnosis of Viral Hemorrhagic Fevers

    National Research Council Canada - National Science Library

    Palacios, Gustavo; Briese, Thomas; Kapoor, Vishal; Jabado, Omar; Liu, Zhiqiang; Venter, Marietjie; Zhai, Junhui; Renwick, Neil; Grolla, Allen; Geisbert, Thomas W; Drosten, Christian; Towner, Johnathan; Ju, Jingyue; Paweska, Janusz; Nichol, Stuart T; Swanepel, Robert; Feldmann, Heinz; Jahrling, Peter B; Lipkin, W. I

    2006-01-01

    Viral hemorrhagic fevers are associated with high rates of illness and death. Although therapeutic options are limited, early differential diagnosis has implications for containment and may aid in clinical management...

  7. Cyst fluid analysis in the differential diagnosis of pancreatic cystic lesions : A pooled analysis

    NARCIS (Netherlands)

    van der Waaij, LA; van Dullemen, HM; Porte, RJ

    Background: Pancreatic cystic tumors commonly include serous cystadenoma (SCA), mucinous cystadenoma (MCA), and mucinous cystadenocarcinoma (MCAC). A differential diagnosis with pseudocysts (PC) can be difficult. Radiologic criteria are not reliable. The objective of the study is to investigate the

  8. Cotard's syndrome and delayed diagnosis in Kashmir, India

    Science.gov (United States)

    Wani, Zaid A; Khan, Abdul W; Baba, Aijaz A; Khan, Hayat A; Wani, Qurat-ul Ain; Taploo, Rayeesa

    2008-01-01

    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 problems in primary care physicians resulting in undue suffering, loss of precious time and resources for the patient. Besides highlighting the rare combination of pregnancy and Cotard's syndrome this report delineates the difficulties faced by patients with such symptoms in a low resource setting. PMID:18271948

  9. Evaluation of steroid laboratory tests and adrenal gland imaging with radiocholesterol in the aetiological diagnosis of Cushing's syndrome

    International Nuclear Information System (INIS)

    Barbarino, A.; De Marinis, L.; Liberale, I.; Menini, E.

    1979-01-01

    Basal values of the urinary excretion of 17-oxogenic steroids and serum levels of cortisol were not satisfactory in the differentiation of 'suspected' subjects from patients with true Cushing's syndrome. With a RIA method for serum cortisol determination, the overnight dexamethasone suppression test provided the most reliable single test in establishing adrenocortical hyperfunction. Thirty-five normal subjects, fifty-nine obese patients, thirteen 'suspected' patients and thirteen patients with disease states other than Cushing's syndrome had suppressed values below 4.0 μg/100 ml. None of the ten patients with Cushing's syndrome had a cortisol concentration less than 16.3 μg/100ml. Adrenal gland scintigraphy after radiocholesterol injection is a more valuable tool than the metyrapone test and the high-dose dexamethasone suppression test in the localization and differential diagnosis of adrenocortical lesions causing Cushing's syndrome. It obviates the need for angiographic procedure in the localization of adenomas. It is a reliable technique for identifying functioning adrenal remnants. Therefore a schedule is proposed for studying patients with suspected adrenocortical hyperfunction. (author)

  10. Differential diagnosis of periapical cyst using collagen birefringence pattern of the cyst wall

    OpenAIRE

    Ji, Hyo Jin; Park, Se-Hee; Cho, Kyung-Mo; Lee, Suk Keun; Kim, Jin Woo

    2017-01-01

    Objectives Periapical lesions, including periapical cyst (PC), periapical granuloma (PG), and periapical abscess (PA), are frequently affected by chemical/physical damage during root canal treatment or severe bacterial infection, and thus, the differential diagnosis of periapical lesions may be difficult due to the presence of severe inflammatory reaction. The aim of this study was to make differential diagnosis among PC, PG, and PA under polarizing microscope. Materials and Methods ...

  11. Asthma in elite athletes: pathogenesis, diagnosis, differential diagnoses, and treatment

    DEFF Research Database (Denmark)

    Pedersen, Lars; Elers, Jimmi; Backer, Vibeke

    2011-01-01

    Elite athletes have a high prevalence of asthma and exercise-induced bronchoconstriction. Although respiratory symptoms can be suggestive of asthma, the diagnosis of asthma in elite athletes cannot be based solely on the presence or absence of symptoms; diagnosis should be based on objective...... measurements, such as the eucapnic voluntary hyperpnea test or exercise test. When considering that not all respiratory symptoms are due to asthma, other diagnoses should be considered. Certain regulations apply to elite athletes who require asthma medication for asthma. Knowledge of these regulations...... is essential when treating elite athletes. This article is aimed at physicians who diagnose and treat athletes with respiratory symptoms. It focuses on the pathogenesis of asthma and exercise-induced bronchoconstriction in elite athletes and how the diagnosis can be made. Furthermore, treatment of elite...

  12. [Differential diagnosis for detection of hyphae in tissue].

    Science.gov (United States)

    Tintelnot, K

    2013-11-01

    Usually the detection of hyphae in tissue is unmistakable evidence of a deep mycosis requiring antimycotic treatment. Micromorphology alone rarely allows a specific diagnosis, thus confusion is possible between Candida, Aspergillus, Alternaria and Fusarium species or several other fungal agents. If broad, nearly non-septated hyphae are detected histologically mucormycosis can be suspected. Detection of hyphae in tissue is always a cause for concern because therapeutic consequences must follow. Because therapeutic strategies may differ depending on the specific fungal agent, a suspected diagnosis should be supplemented by other methods, e.g. culture of unfixed specimens, by immunohistology or molecular biological methods.

  13. Differential diagnosis of acute abdominal pain – acute intermittent porphyria

    Directory of Open Access Journals (Sweden)

    Mislav Klobučić

    2011-08-01

    Full Text Available Acute intermittent porphyria (AIP is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme. Clinically, AIP is dominatedby a colicky type pain, which does not subside after taking usual analgesics. Additional frequent symptoms are vomiting, hypertension, peripheral neuropathy, seizures, depression, delirium and coma. This paper reported a case of a twenty-fi- ve-year-old female patient, who had undergone a period of six days between the first presentationto the medical department and the diagnosis confirmation. It has accentuated possible mistakes in symptomatic therapy administration as well as dangers of a delayed diagnosis.

  14. Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.

    Science.gov (United States)

    Mills, Anne M; Longacre, Teri A

    2016-06-01

    Lynch syndrome is responsible for approximately 5% of endometrial cancers and 1% of ovarian cancers. The molecular basis for Lynch syndrome is a heritable functional deficiency in the DNA mismatch repair system, typically due to a germline mutation. This review discusses the rationales and relative merits of current Lynch syndrome screening tests for endometrial and ovarian cancers and provides pathologists with an informed algorithmic approach to Lynch syndrome testing in gynecologic cancers. Pitfalls in test interpretation and strategies to resolve discordant test results are presented. The potential role for next-generation sequencing panels in future screening efforts is discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Residual Salivary Secretion Ability May Be a Useful Marker for Differential Diagnosis in Autoimmune Diseases

    Directory of Open Access Journals (Sweden)

    Etsuko Maeshima

    2014-01-01

    Full Text Available Background. We have elucidated decreased resting salivary flow in approximately 60% of patients with autoimmune diseases not complicated by Sjögren syndrome (SjS. In this study, salivary stimulation tests using capsaicin were performed to examine residual salivary secretion ability in patients with autoimmune diseases. Materials and Methods. Fifty-eight patients were divided into three groups: patients with primary or secondary SjS (SjS group, patients with systemic sclerosis not complicated by SjS (SSc group, and patients with other autoimmune diseases (non-SjS/non-SSc group. Simple filter paper and filter paper containing capsaicin were used to evaluate salivary flow rates. Results. Resting salivary flow rates were significantly lower in the SjS and SSc groups than in the non-SjS/non-SSc group but did not differ significantly between the SjS and SSc groups. Capsaicin-stimulated salivary flow rates were significantly lower in the SjS and SSc groups than in the non-SjS/non-SSc group, but not significantly different between the SjS and SSc groups. In the non-SjS/non-SSc group, salivary flow rates increased after capsaicin stimulation to the threshold level for determination of salivary gland dysfunction, whereas no improvement was observed in the SjS and SSc groups. Conclusion. Residual salivary secretion ability may be a useful marker for differential diagnosis in autoimmune diseases.

  16. The value of electrocardiography for differential diagnosis in wide QRS complex tachycardia.

    Science.gov (United States)

    Sousa, Pedro A; Pereira, Salomé; Candeias, Rui; de Jesus, Ilídio

    2014-03-01

    Correct diagnosis in wide QRS complex tachycardia remains a challenge. Differential diagnosis between ventricular and supraventricular tachycardia has important therapeutic and prognostic implications, and although data from clinical history and physical examination may suggest a particular origin, it is the 12-lead surface electrocardiogram that usually enables this differentiation. Since 1978, various electrocardiographic criteria have been proposed for the differential diagnosis of wide complex tachycardias, particularly the presence of atrioventricular dissociation, and the axis, duration and morphology of QRS complexes. Despite the wide variety of criteria, diagnosis is still often difficult, and errors can have serious consequences. To reduce such errors, several differential diagnosis algorithms have been proposed since 1991. However, in a small percentage of wide QRS tachycardias the diagnosis remains uncertain and in these the wisest decision is to treat them as ventricular tachycardias. The authors' objective was to review the main electrocardiographic criteria and differential diagnosis algorithms of wide QRS tachycardia. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  17. Chronic Localized Back Pain Due to Posterior Cutaneous Nerve Entrapment Syndrome (POCNES): A New Diagnosis.

    Science.gov (United States)

    Boelens, Oliver B; Maatman, Robert C; Scheltinga, Marc R; van Laarhoven, Kees; Roumen, Rudi M

    2017-03-01

    Most patients with chronic back pain suffer from degenerative thoracolumbovertebral disease. However, the following case illustrates that a localized peripheral nerve entrapment must be considered in the differential diagnosis of chronic back pain. We report the case of a 26-year-old woman with continuous excruciating pain in the lower back area. Previous treatment for nephroptosis was to no avail. On physical examination the pain was present in a 2 x 2 cm area overlying the twelfth rib some 4 cm lateral to the spinal process. Somatosensory testing using swab and alcohol gauze demonstrated the presence of skin hypo- and dysesthesia over the painful area. Local pressure on this painful spot elicited an extreme pain response that did not irradiate towards the periphery. These findings were highly suggestive of a posterior version of the anterior cutaneous nerve entrapment syndrome (ACNES), a condition leading to a severe localized neuropathic pain in anterior portions of the abdominal wall. She demonstrated a beneficial albeit temporary response after lidocaine infiltration as dictated by an established diagnostic and treatment protocol for ACNES. She subsequently underwent a local neurectomy of the involved superficial branch of the intercostal nerve. This limited operation had a favorable outcome resulting in a pain-free return to normal activities up to this very day (follow-up of 24 months).We propose to name this novel syndrome "posterior cutaneous nerve entrapment syndrome" (POCNES). Each patient with chronic localized back pain should undergo simple somatosensory testing to detect the presence of overlying skin hypo- and dysesthesia possibly reflecting an entrapped posterior cutaneous nerve.Key words: Chronic pain, back pain, posterior cutaneous nerve entrapment, peripheral nerve entrapment, surgical treatment for pain, anterior cutaneous nerve entrapment.

  18. Differential diagnosis between ameloblastoma and odontogenic keratocyst using computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Kawazu, Toshiyuki; Yoshiura, Kazunori; Yuasa, Kenji; Kanda, Shigenobu; Ohzeki, Satoru; Shinohara, Masanori [Kyushu Univ., Fukuoka (Japan). Faculty of Dentistry; Araki, Kazuyuki; Higuchi, Yoshinori

    1997-09-01

    Radiographic features of ameloblastoma and odontogenic keratocyst are similar although their biological behaviors are different. Therefore, it is very important to differentiate these lesions before treatment. The aim of this study was to differentiate between the two lesions based on characteristic CT findings. Fifty-three patients diagnosed histopathologically as having ameloblastoma (29 cases) or odontogenic keratocyst (24 cases) and who underwent CT were evaluated radiologically, and some characteristic radiological features to differentiate both lesions were assessed. Ameloblastomas tended to be more than 40 mm in long diameter and 0.5 short/long diameter ratio, whereas odontogenic keratocysts were less than 40 mm and 0.5, respectively (P<0.05: Chi-square test). Buccal expansion of the cortex was seen more often in ameloblastomas than in odontogenic keratocysts (P<0.05: Chi-square test). Together with these features and internal high density structure, which was only seen in odontogenic keratocysts, differential diagnostic criteria between ameloblastomas and odontogenic keratocysts were proposed. Diagnostic accuracy based on these criteria was 84.9%. These results that our criteria to differentiate ameloblastomas from odontogenic keratocysts using CT are clinically useful prior to treatment. (author)

  19. Differential diagnosis between ameloblastoma and odontogenic keratocyst using computed tomography

    International Nuclear Information System (INIS)

    Kawazu, Toshiyuki; Yoshiura, Kazunori; Yuasa, Kenji; Kanda, Shigenobu; Ohzeki, Satoru; Shinohara, Masanori; Araki, Kazuyuki; Higuchi, Yoshinori

    1997-01-01

    Radiographic features of ameloblastoma and odontogenic keratocyst are similar although their biological behaviors are different. Therefore, it is very important to differentiate these lesions before treatment. The aim of this study was to differentiate between the two lesions based on characteristic CT findings. Fifty-three patients diagnosed histopathologically as having ameloblastoma (29 cases) or odontogenic keratocyst (24 cases) and who underwent CT were evaluated radiologically, and some characteristic radiological features to differentiate both lesions were assessed. Ameloblastomas tended to be more than 40 mm in long diameter and 0.5 short/long diameter ratio, whereas odontogenic keratocysts were less than 40 mm and 0.5, respectively (P<0.05: Chi-square test). Buccal expansion of the cortex was seen more often in ameloblastomas than in odontogenic keratocysts (P<0.05: Chi-square test). Together with these features and internal high density structure, which was only seen in odontogenic keratocysts, differential diagnostic criteria between ameloblastomas and odontogenic keratocysts were proposed. Diagnostic accuracy based on these criteria was 84.9%. These results that our criteria to differentiate ameloblastomas from odontogenic keratocysts using CT are clinically useful prior to treatment. (author)

  20. [Desmoplastic fibroma. Differential diagnosis of a periapical lesion from endodontic failure].

    Science.gov (United States)

    Zabalegui, B; Gil, J; Zabalegui, I

    1989-01-01

    Treatment of endodontically involved teeth requires accurate diagnosis of the clinical pulpal condition to determine the primary cause of pathosis. The case presented shows the differential diagnosis between a desmoplastic fibroma and a failure of a misdiagnosed endodontic treatment. The initial direction of treatment should had never been the endodontic therapy but local surgical curettage of the lesion.

  1. Clinical features and differential diagnosis of type 2 diabetes mellitus in children

    Directory of Open Access Journals (Sweden)

    Tamara Leonidovna Kuraeva

    2009-09-01

    Full Text Available This review was designed to evaluate prevalence, specific clinical features, and differential diagnosis of type 2 diabetes mellitus (DM2 in childrenand adolescents. Special emphasis is laid on the importance of immunological and molecular-genetic studies for the verification of diagnosis and activecase detection in h groups.

  2. Differential diagnosis of genetic disease by DNA restriction fragment length polymorphisms

    NARCIS (Netherlands)

    Bolhuis, P. A.; Defesche, J. C.; van der Helm, H. J.

    1987-01-01

    DNA restriction fragment length polymorphisms (RFLPs) are used for diagnosis of genetic disease in families known to be affected by specific disorders, but RFLPs can be also useful for the differential diagnosis of hereditary disease. An RFLP pattern represents the inheritance of chromosomal markers

  3. Assessment and Differential Diagnosis of Comorbid Conditions in Adolescents and Adults with Autism Spectrum Disorders

    Science.gov (United States)

    Trammell, Beth; Wilczynski, Susan M.; Dale, Brittany; Mcintosh, David E.

    2013-01-01

    Successful treatment of individuals with autism spectrum disorders (ASD) is entirely contingent on an accurate diagnosis. Although many resources exist to help the clinician with differential diagnosis of children, particularly in early childhood, the resources available for evaluating adolescents and adults is far less prevalent. Clinicians often…

  4. Confusion and Inconsistency in Diagnosis of Asperger Syndrome: A Review of Studies from 1981 to 2010

    Science.gov (United States)

    Sharma, Shilpi; Woolfson, Lisa Marks; Hunter, Simon C.

    2012-01-01

    This paper presents a review of past and current research on the diagnosis of Asperger syndrome (AS) in children. It is suggested that the widely used criteria for diagnosing AS in the "Diagnostic and Statistical Manual of Mental Disorders" (DSM)-IV are insufficient and invalid for a reliable diagnosis of AS. In addition, when these diagnostic…

  5. Laryngeal neurinoma. Differential diagnosis of submucosal laryngeal tumors

    International Nuclear Information System (INIS)

    Higuera, A.; Palomo, V.; Munoz, R.; Sanchez, F.

    2002-01-01

    Laryngeal neurinoma is a rare benign tumor that appears as a submucosal mass, generally in the supraglottic region. We report the case of a patient with dysphonia of long evolution caused by a neurinoma. We discuss the radiological findings of the tumor and the value of computed tomography (CT) in the diagnosis of this and other submucosal laryngeal lesions. (Author) 16 refs

  6. Differential Diagnosis of Selective Mutism in Bilingual Children

    Science.gov (United States)

    Toppelberg, Claudio O.; Tabors, Patton; Coggins, Alissa; Lum, Kirk; Burger, Claudia

    2005-01-01

    Early diagnosis of selective mutism (SM) is an important concern. SM prevalence is higher than initially thought and at least three times higher in immigrant language minority children. Although the DSM-IV precludes diagnosing SM in immigrant children with limited language proficiency (as children acquiring a second language may normally undergo a…

  7. MRI findings and differential diagnosis in children with cerebral paragonimiasis

    Directory of Open Access Journals (Sweden)

    Zhen Zeng

    2016-06-01

    Conclusions: The clinical manifestations of cerebral paragonimiasis are nonspecific in children while the MRI findings of cerebral paragonimiasis are characteristic, including irregular hemorrhage, ring-like enhancement and disproportionately large areas of surrounding edema. Brain MRI plays an important role in the diagnosis of cerebral paragonimiasis in children.

  8. Differential diagnosis of suspected multiple sclerosis: a consensus approach

    NARCIS (Netherlands)

    Miller, D. H.; Weinshenker, B.G.; Filippi, M.; Banwell, B.L.; Cohen, J.A.; Freedman, M.S.; Galetta, S.L.; Hutchinson, M.; Johnson, R.T.; Kappos, L.; Kira, J.; Lublin, F.D.; McFarland, H.F.; Montalban, X.; Panitch, H.; Richert, J.R.; Reingold, S.C.; Polman, C.H.

    2008-01-01

    Background and objectives: Diagnosis of multiple sclerosis (MS) requires exclusion of diseases that could better explain the clinical and paraclinical findings. A systematic process for exclusion of alternative diagnoses has not been defined. An International Panel of MS experts developed consensus

  9. Meckel Gruber Syndrome: Correlation Between Prenatal Diagnosis and Autopsy Findings

    Directory of Open Access Journals (Sweden)

    Hülya Akgün

    2008-04-01

    CONCLUSION: Ultrasonographic findings of MGS allow for diagnosis of the most cases. However autopsy may be valuable for confirmation of the diagnosis and to evaluate the recurrence risk in future pregnancies.

  10. Guideline for diagnosis and treatment of subacromial pain syndrome

    NARCIS (Netherlands)

    Diercks, Ronald; Bron, Carel; Dorrestijn, Oscar; Meskers, Carel; Naber, René; de Ruiter, Tjerk; Willems, Jaap; Winters, Jan; van der Woude, Henk Jan

    Treatment of "subacromial impingement syndrome" of the shoulder has changed drastically in the past decade. The anatomical explanation as "impingement" of the rotator cuff is not sufficient to cover the pathology. "Subacromial pain syndrome", SAPS, describes the condition better. A working group

  11. Contribution to differential diagnosis of lumbar spine disc hernia by computerized tomography

    International Nuclear Information System (INIS)

    Dolansky, J.

    1989-01-01

    The significance is discussed of computerized tomography in differential diagnosis of disc hernias of the lumbar spine. A simple technique is described that allows to differentiate disc hernias from epidural vein varices. It mostly includes repeat imaging of the same body section and/or the application of a contrast medium. (L.O.). 2 figs., 4 refs

  12. Dissociative identity disorder and schizophrenia: differential diagnosis and theoretical issues.

    Science.gov (United States)

    Foote, Brad; Park, Jane

    2008-06-01

    Schizophrenia and dissociative identity disorder (DID) are typically thought of as unrelated syndromes--a genetically based psychotic disorder versus a trauma-based dissociative disorder--and are categorized as such by the DSM-IV. However, substantial data exist to document the elevated occurrence of psychotic symptoms in DID; awareness of these features is necessary to prevent diagnostic confusion. Recent research has also pointed out that schizophrenia and DID overlap not only in psychotic symptoms but also in terms of traumatic antecedents, leading to a number of suggestions for revision of our clinical, theoretical, and nosologic understanding of the relationship between these two disorders.

  13. Differential Diagnosis of Children with Suspected Childhood Apraxia of Speech

    Science.gov (United States)

    Murray, Elizabeth; McCabe, Patricia; Heard, Robert; Ballard, Kirrie J.

    2015-01-01

    Purpose: The gold standard for diagnosing childhood apraxia of speech (CAS) is expert judgment of perceptual features. The aim of this study was to identify a set of objective measures that differentiate CAS from other speech disorders. Method: Seventy-two children (4-12 years of age) diagnosed with suspected CAS by community speech-language…

  14. 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

  15. Congenital heart disease: a hard case for differential diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    David Gonçalves Nordon

    2012-04-01

    Full Text Available ABSTRACT Congenital heart diseases are important malformations that might compromise not only the patient's survival, but also his/her quality of life. We present the case of a female newborn who presented cardiovascular unbalance and cianosis in spite of her previous month of life without any complication. Her differential diagnosis was rather difficult, due not only to restrictions of exams available for diagnosis, but also to their sensibility and specificity. We discuss such differential diagnosis and the complicated development of the case.

  16. Infectious diseases of brain parenchyma in adults: imaging and differential diagnosis

    International Nuclear Information System (INIS)

    Haehnel, S.; Kress, B.; Stippich, C.; Sartor, K.; Seitz, A.; Storch-Hagenlocher, B.; Forsting, M.; Jansen, O.

    2005-01-01

    Infectious diseases of the central nervous system have often to be considered in differential diagnosis, particularly in immunocompromised persons. Neuroimaging, specifically advanced techniques such as diffusion-weighted MRI and perfusion MRI contribute much to the differentiation of various brain infections and to delineation of brain infections from other, for instance, neoplastic diseases. In this review we present the imaging criteria for the most important brain infections in adults and discuss in detail differential diagnostic aspects. (orig.)

  17. Diabetic mastopathy - an unusual differential diagnosis: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Elias, Simone [Universidade Federal de Sao Paulo (UNIFESP-EPM), Sao Paulo, SP (Brazil). Dept. of Mastology. Diagnostic Unit]. E-mail: simoneelias3@yahoo.com.br; Francisco, Marina Celli [Universidade Federal de Sao Paulo (UNIFESP-EPM), Sao Paulo, SP (Brazil). Dept. of Diagnostic Imaging; Kemp, Claudio Kemp; Verenhitach, Beatriz Daou; Wolgien, Maria del Carmen M. [Universidade Federal de Sao Paulo (UNIFESP-EPM), Sao Paulo, SP (Brazil). Dept. of Gynecology. Div. of Mastology; Francisco, Fabiano Celli [Hospital de Caridade Sao Braz de Porto Uniao, Porto Uniao, SC (Brazil)

    2008-07-15

    Diabetic mastopathy affects premenopausal women with longstanding type 1 diabetes mellitus. The diagnosis is based on clinical findings (uni or bilateral hardened, palpable mass) associated with radiological (increase in breast density), sonographic (marked posterior acoustic shadowing), and histopathological (fibrosis and perivascular and periductal lymphocytic infiltration) findings. This disease may clinically simulate a breast carcinoma. The case of a patient with diabetic mastopathy is reported. (author)

  18. Diabetic mastopathy - an unusual differential diagnosis: a case report

    International Nuclear Information System (INIS)

    Elias, Simone

    2008-01-01

    Diabetic mastopathy affects premenopausal women with longstanding type 1 diabetes mellitus. The diagnosis is based on clinical findings (uni or bilateral hardened, palpable mass) associated with radiological (increase in breast density), sonographic (marked posterior acoustic shadowing), and histopathological (fibrosis and perivascular and periductal lymphocytic infiltration) findings. This disease may clinically simulate a breast carcinoma. The case of a patient with diabetic mastopathy is reported. (author)

  19. Radiological signs of transient tachypnoea and its differential diagnosis

    International Nuclear Information System (INIS)

    Ponhold, W.

    1981-01-01

    The radiological signs of transient tachypnoea are analysed via a study conducted with 9 children suffering from this disturbance of respiratory adaptation. The main signs are reticulonodular structural increases on both sides and extended vessels with unsharp outlines; to a lesser extent, marked small interlobar fissure, signs of an expiratory disturbance of ventilation, and cardiomegaly are seen also. Differentiation against hyaline membranes is easy and delineation against pneumonic and haemorrhagic infiltrations is usually not at all difficult. However, it may be less easy to differentiate between a relatively severe transient tachypnoea and cardiac left decompensation, since the radiological signs resemble each other. Assessment of a chest X-ray film of the newborn should be evaluated in such cases only if the clinical pattern of signs is known, since this is the only way to obtain adequate radiological clarification. (orig.) [de

  20. Usefulness of Thallium Scan for Differential Diagnosis of Breast Mass

    Energy Technology Data Exchange (ETDEWEB)

    Bae, Sang Kyun; Yum, Ha Yong; Lee, Chung Han; Choi, Kyung Hyun [Kosin University College of Medicine, Pusan (Korea, Republic of)

    1994-07-15

    The purpose of this study is to evaluate thallium scanning as a potential test in differentiating malignant from benign lesions of breast. Thirty-one female patients underwent thallium scan of the breast. After intravenous injection of 74-111 MBq(2-3 mCi)of thallium-201, anterior and lateral images were obtained. We compared thallium scans with pathological results. Of 11 patients with breast cancers, 10 cases (90.9%) were detected using thallium scan. Thallium scan obtained in one patient who had breast cancer but received several cycles of chemotherapy did not show thallium uptake. The smallest detectable cancer was 1.5 cm in diameter. In contrast, there is no thallium accumulation in breasts of 17 of 20 patients with benign disease (85%), Three cases of 13 fibrocystic disease show thallium uptake in their breast. In conclusion, thallium scan is an effective test in differentiating benign from malignant lesion.

  1. Usefulness of Thallium Scan for Differential Diagnosis of Breast Mass

    International Nuclear Information System (INIS)

    Bae, Sang Kyun; Yum, Ha Yong; Lee, Chung Han; Choi, Kyung Hyun

    1994-01-01

    The purpose of this study is to evaluate thallium scanning as a potential test in differentiating malignant from benign lesions of breast. Thirty-one female patients underwent thallium scan of the breast. After intravenous injection of 74-111 MBq(2-3 mCi)of thallium-201, anterior and lateral images were obtained. We compared thallium scans with pathological results. Of 11 patients with breast cancers, 10 cases (90.9%) were detected using thallium scan. Thallium scan obtained in one patient who had breast cancer but received several cycles of chemotherapy did not show thallium uptake. The smallest detectable cancer was 1.5 cm in diameter. In contrast, there is no thallium accumulation in breasts of 17 of 20 patients with benign disease (85%), Three cases of 13 fibrocystic disease show thallium uptake in their breast. In conclusion, thallium scan is an effective test in differentiating benign from malignant lesion.

  2. Hypertrophic pachymeningitis: Current criteria for diagnosis and differentiation (Clinical case and review of literature

    Directory of Open Access Journals (Sweden)

    E. G. Mendelevich

    2015-01-01

    Full Text Available The paper describes a 44-year-old male patient with an about 6-year history of hypertrophic pachymeningitis. The major clinical symptoms were characterized by headache, exophthalmos, and blindness in one eye. The data for differential diagnosis of the disease are given. The current literature on the clinical manifestations of hypertrophic pachymeningitis, its differential diagnosis, and the results of magnetic resonance imaging (MRI is reviewed. Diagnostic difficulties at the stage of a clinical observation are due to the nonspecificity of neurological manifestations and the need for a comprehensive examination to detect a somatic disease. MRI can diagnose the disease-specific phenomenon of damage to the meninges, which calls for further careful differentiation. Clinicians must be familiar with alternative differential diagnosis, as a rapid specific therapeutic approach will help avoid long-term or irreversible neurological complications.

  3. Limited Diagnostic Utility of Plasma Adrenocorticotropic Hormone for Differentiation between Adrenal Cushing Syndrome and Cushing Disease.

    Science.gov (United States)

    Hong, A Ram; Kim, Jung Hee; Hong, Eun Shil; Kim, I Kyeong; Park, Kyeong Seon; Ahn, Chang Ho; Kim, Sang Wan; Shin, Chan Soo; Kim, Seong Yeon

    2015-09-01

    Measurement of the plasma adrenocorticotropic hormone (ACTH) level has been recommended as the first diagnostic test for differentiating between ACTH-independent Cushing syndrome (CS) and ACTH-dependent CS. When plasma ACTH values are inconclusive, a differential diagnosis of CS can be made based upon measurement of the serum dehydroepiandrosterone sulfate (DHEA-S) level and results of the high-dose dexamethasone suppression test (HDST). The aim of this study was to assess the utility of plasma ACTH to differentiate adrenal CS from Cushing' disease (CD) and compare it with that of the HDST results and serum DHEA-S level. We performed a retrospective, multicenter study from January 2000 to May 2012 involving 92 patients with endogenous CS. The levels of plasma ACTH, serum cortisol, 24-hour urine free cortisol (UFC) after the HDST, and serum DHEA-S were measured. Fifty-seven patients had adrenal CS and 35 patients had CD. The area under the curve of plasma ACTH, serum DHEA-S, percentage suppression of serum cortisol, and UFC after HDST were 0.954, 0.841, 0.950, and 0.997, respectively (all Pdisease, especially when the plasma ACTH level alone is not conclusive.

  4. The radiological appearance of bacterial pneumonias and their differential diagnosis

    International Nuclear Information System (INIS)

    Wagner, H.H.; Fabel, H.; Medizinische Hochschule Hannover

    1985-01-01

    Under the influence of antibiotic therapy, bacterial pneumonias have undergone a remarkable change in the last few decades. Individual forms of pneumonia can be distinguished morphologically by their localization, the way in which they spread, their limitations, and their course. Clinically, opportunistic bacterial infections predominate. Increasingly, secondary pneumonias are observed in poststenotic areas, areas of infarction, in hypostatic areas, after aspiration, and in previously damaged lobes. Radiologic criteria for differentiating from atypical pneumonias (viruses, mycoplasmas and chlamydia) are discussed. (orig.) [de

  5. Enteropathic arthritis in the sacroiliac joint. Imaging and differential diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Mester, Adam R. E-mail: mester@radi.sote.hu; Mako, Erno K.; Karlinger, Kinga; Gyoerke, Tamas; Tarjan, Zsolt; Marton, Erika; Kiss, Katalin

    2000-09-01

    Objectives: A new high resolution computed tomography (HRCT) scoring system of sacroiliac joint (SIJ) involvement in enteropathic arthritis is introduced. Patients and methods: SIJ's of 100 patients were studied. A total of 25 patients presented with pain syndrome, 25 with suspicious seronegative spondylarthritis, 25 with inflammatory bowel diseases and 25 without joint or bowel diseases, as a control group. HRCT was carried out in all 100 patients. For comparison, a plain film radiography (PFR), conventional CT (slices of 10 mm) and bone scan were used. Results: Quantitative differences: In the pain syndrome group, there were no erosions identified neither intraarticular calcifications. Disc degeneration was seen in 12/25 cases. In 4/25 patients, vacuum phenomena appeared in the SIJ. In 3/25 patients, ventral capsular calcification occurred in the ventral sacroiliac ligament (anterior capsule complex). In the seronegative spondylarthritis group, 16/25 patients had positive findings, while PFR documented erosions only in 3/25 cases. In the bowel diseases group, erosions were detected in 17/25 cases with HRCT, while the plain film was positive only in three cases and in seven cases the findings were questionable. Intraarticular calcification with erosion was documented in three cases and in seven cases without erosion. The bone scan was positive in 7/25 of this cases, but in 5/7 there was mismatching with HRCT. Important new finding was the HRCT detected erosion which was not detected on BS but was obvious on Anti-Granulocyte-Antibody scintigraphy. In the control group, only degenerative changes were seen in 4/25 cases and no erosions. Conclusion: HRCT is: (1) the reliable imaging of definitive (often 'cold stage') sacroileitis; (2) gives optimal detection of erosion; and (3) appears to be the only method in the documentation of calcifications in the posterior ligamental portion of the SIJ.

  6. Impact of copeptin on diagnosis of acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Zeinab H. El Sayed

    2014-07-01

    Conclusion: In suspected acute coronary syndrome, determination of copeptin and cardiac troponin I provides a remarkable negative predictive value, which aids in early and safe ruling out of myocardial infarction.

  7. Premenstrual Syndromes - An Approach to Diagnosis and Treatment

    African Journals Online (AJOL)

    This article discusses the differences between premenstrual syndrome and premenstrual dysphoric disorder and .... such as Major Depressive Disorder, Panic Disorder, Dysthymic Disorder, or a ... even less convincing scientific evidence.

  8. Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First ...

    African Journals Online (AJOL)

    Tahir M. Malla

    2015-07-14

    /licenses/by-nc-nd/4.0/). 1. Introduction. Roberts SC phocomelia syndrome is an autosomal recessive developmental disorder characterized by pre and postnatal growth retardation, microcephaly, craniofacial anomalies,.

  9. Classification and Differential Diagnosis of Oral and Maxillofacial Pain.

    Science.gov (United States)

    Scrivani, Steven J; Spierings, Egilius L H

    2016-08-01

    Pain in the orofacial region is a common presenting symptom. The majority of symptoms are related to dental disease and the cause can readily be established, the problem dealt with, and the pain eliminated. However, pain may persist and defy attempts at treatment. Intractable oral or facial pain can be diagnostically challenging. To make a definitive diagnosis and initiate proper treatment, a rigorous protocol for evaluation includes a thorough history and an appropriate comprehensive clinical examination and diagnostic testing, including chief complaint, history of present illness, medical history, physical examination, diagnostic studies, including imaging, and psychosocial evaluation. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. PELVIC CONGESTION SYNDROME. METHODS OF DIAGNOSIS AND TREATMENT. LITERATURE REVIEW

    Directory of Open Access Journals (Sweden)

    Svetlana Vladimirovna Verezgova

    2014-10-01

    Full Text Available Pelvic pain syndrome is not rare clinical condition without specific symptoms and usually affects multiparous women. Numerous controversies in the management such patients are still present in current publications.Different diagnostic modalities were and are now used to delineate of anatomy and physiology of pelvic venous system. The well-known and recently developed approaches to treat patients with  pelvic congestion syndrome are discussed in present overview of the scientific literature.

  11. Waardenburg syndrome: clinical differentiation between types I and II.

    Science.gov (United States)

    Pardono, Eliete; van Bever, Yolande; van den Ende, Jenneke; Havrenne, Poti C; Iughetti, Paula; Maestrelli, Sylvia R P; Costa F, Orozimbo; Richieri-Costa, Antonio; Frota-Pessoa, Oswaldo; Otto, Paulo A

    2003-03-15

    Here we present the results of a study performed on 59 patients affected by Waardenburg syndrome (WS), 30 with the I variant, 21 having the type II, and 8 of them being isolated cases without telecanthus. These patients belong to 37 families; the main contributions and conclusions are based on the detailed study of 25 of these families, examined using standard procedures. All patients were examined as to the presence of eight cardinal signs important for the diagnosis of the condition; from each patient, from many of his/her normal relatives, and from a control sample of 300 normal individuals stratified by age and sex, 23 different craniofacial measurements were obtained. We also estimated, using our own data as well those collected from the literature, the frequencies of the cardinal signs, based on a total sample of 461 affected individuals with WSI and 121 with WSII. In order to originate discriminant functions to separate individuals affected by one of the two variants, both metric (from craniofacial measurements) as well as categoric data (based on the frequencies of the cardinal signs or symptoms) were used. Discriminant analysis based on the frequency of the eight cardinal signs can improve the separation of WSI patients without telecanthus from those presenting the variant II. We present also a Table with the conditional probabilities favoring the diagnosis of WSI for suspect subjects without telecanthus and any combination of the other seven signs/symptoms. The discriminant function based on the four ocular measurements (inner and outer intercanthal, interpupillary, and inferior lacrymal distances), on the other side, perfectly classifies patients affected by one of the variants of WS, the same taking place when the average values of the W index of all affected individuals per family are used. The discriminant function based solely in the individual W index values of patients correctly classifies 93% of WSII subjects, but only 60% of the patients with the

  12. Pleuritic Chest Pain: Sorting Through the Differential Diagnosis.

    Science.gov (United States)

    Reamy, Brian V; Williams, Pamela M; Odom, Michael Ryan

    2017-09-01

    Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling. Pulmonary embolism is the most common serious cause, found in 5% to 21% of patients who present to an emergency department with pleuritic chest pain. A validated clinical decision rule for pulmonary embolism should be employed to guide the use of additional tests such as d-dimer assays, ventilation-perfusion scans, or computed tomography angiography. Myocardial infarction, pericarditis, aortic dissection, pneumonia, and pneumothorax are other serious causes that should be ruled out using history and physical examination, electrocardiography, troponin assays, and chest radiography before another diagnosis is made. Validated clinical decision rules are available to help exclude coronary artery disease. Viruses are common causative agents of pleuritic chest pain. Coxsackieviruses, respiratory syncytial virus, influenza, parainfluenza, mumps, adenovirus, cytomegalovirus, and Epstein-Barr virus are likely pathogens. Treatment is guided by the underlying diagnosis. Nonsteroidal anti-inflammatory drugs are appropriate for pain management in those with virally triggered or nonspecific pleuritic chest pain. In patients with persistent symptoms, persons who smoke, and those older than 50 years with pneumonia, it is important to document radiographic resolution with repeat chest radiography six weeks after initial treatment.

  13. [Prevalence and Comorbidity of Self-Reported Diagnosis of Burnout Syndrome in the General Population].

    Science.gov (United States)

    Maske, Ulrike E; Riedel-Heller, Steffi G; Seiffert, Ingeburg; Jacobi, Frank; Hapke, Ulfert

    2016-01-01

    To determine the prevalence and comorbid mental disorders of self-reported diagnosis of burnout syndrome in the general population of Germany. In the German Health Interview and Examination Survey (DEGS1) self-reported diagnosis of a burnout syndrome made by a physician or psychotherapist was assessed in a standardized interview (N = 7987). For N = 4483 mental disorders were determined with the Composite International Diagnostic Interview (CIDI). Weighted lifetime and 12-month prevalences were calculated. Lifetime prevalence of diagnosed burnout syndrome was 4.2 % (women 5.2 %, men 3.3 %), 12-month prevalence was 1.5 % (women 1.9 %, men 1.1 %). Highest prevalences were found in 40 - 59 year olds, in people with middle and high socio economic status and in women with low and men with high social support. Among the 12-month cases, 70.9 % had at least one DSM-IV disorder. Associations were found for the diagnosis of burnout syndrome with somatoform, affective and anxiety disorders. The diagnosis of burnout syndrome is less frequently given and reported than expected. People with a burnout diagnosis often have a manifest mental disorder. © Georg Thieme Verlag KG Stuttgart · New York.

  14. Plain X-ray diagnosis of the acute abdomen: A surgical handbook with notes on clinical presentation and differential diagnosis

    International Nuclear Information System (INIS)

    Gough, M.H.; Gear, M.W.; Daar, A.S.

    1985-01-01

    Taken in conjunction with a history and clinical examination, the plain X-ray film may provide invaluable help in reaching or confirming a diagnosis in the patient with an acute abdomen. Designed for the casualty officer or trainee surgeon, this clinical handbook is a practical guide to the interpretation of the plain abdominal X-ray. The format of the first edition has been retained, providing typical examples of X-rays of the conditions which present as abdominal emergencies. Each X-ray is accompanied by a legend in four sections: the characteristic radiological signs demonstrated in the film; the differential diagnosis suggested by the X-ray; the presenting signs and symptoms of the condition under discussion; and a list of possible clinical differential diagnoses

  15. Application of 18F-FDG PET for the diagnosis and differential diagnosis of Alzheimer's disease and Lewy body dementia

    International Nuclear Information System (INIS)

    Klisarova, A.; Bochev, P.; Deleva, N.; Dimitrov, I.; Ivanov, B.

    2010-01-01

    Alzheimer's disease and Lewy body dementia are the two most frequent disorders among degenerative dementias. Their clinical identification and differential diagnosis are often difficult in the early stages when, on the other hand treatment is most effective. FDG-PET assessment of region brain metabolism is a proven method and its application demented patients ensures a higher diagnostic accuracy even at the preclinical stage. It helps resolving cases with difficult differential diagnosis as well. In this paper we discuss the application of the method in Alzheimer's disease and Lev body dementia; we present typical cases of both disorder which were assessed by FDG-PET for the first time in Bulgaria highlighting the methodology and the characteristic imaging findings

  16. The differentiation and prognostic implication of the solitary colonic polyp and the polyposis syndromes: A radiologic, histologic, and pathologic approach

    International Nuclear Information System (INIS)

    Olmsted, W.W.; Lichtenstein, J.E.

    1987-01-01

    The differential diagnosis of the solitary colonic polyp and the implications and prognostic significance of the solitary colonic polyp and the polyposis syndromes are frequently confusing because of imprecise and overlapping terminology. Such confusion may lead to misdiagnosis or overdiagnosis and improper patient treatment and surveillance. In the first part of this course, basic terms are defined to acquaint all participants with current common ground. The most frequently occurring solitary polyps (e.g., the colonic adenoma, hyperplastic polyp, Peutz-Jeghers hamartoma, juvenile hamartoma, and inflammatory polyp) are illustrated in detail with radiologic-histologic-pathologic correlation. The prognostic significance of each type of lesion and a scheme for proper colonic surveillance is discussed. In the second part of the session, there is a thorough discussion of multiple colonic polyps and the polyposis syndromes. Radiologic-pathologic correlation are used to illustrate these entities, and therapeutic and diagnostic implications are thoroughly covered. The differential diagnosis of the polyposis syndromes, including lymphoid abnormalities, pneumatosis intestinalis, and colitis cystica profunda, are mentioned. The participant should expect to gain a full understanding of the solitary and multiple colonic polyp states and algorithms for prognosis and treatment

  17. Differential diagnosis of the epileptogenic supratentorial brain tumors in children

    Directory of Open Access Journals (Sweden)

    V. S. Khalilov

    2015-01-01

    Full Text Available Fifty-six out of 79 pediatric patients with supratentorial brain tumors were noted to have symptomatic epilepsy. Dysembryoplastic neuroepithelial tumors (DNET, diffuse astrocytomas (DA, and gangliogliomas (GG were the most epileptogenic tumors. Seizures were new-onset in all our noted cases of DNET and in 4 patients with GG and the only clinical tumor sign in 6 of 8 cases of DNET. The neuroimaging features of the MRI pattern of DNET, DA, and GG were an iso/hypointense signal on Tl-weighted magnetic resonance images and a signal, the intensity of which varied from heterogeneous to cerebrospinal fluid, on T2-weighted FLAIR images. Cases of DNET and GG displayed no mass effect or perifocal edema, a trend towards location in the temporoinsular regions, and a frequent concurrence with local gray-white matter differentiation disorders and atrophy. The FLAIR images clearly showed the so-called foam-like (multicystic structure with pericystic changes. No significant change in the dimensions of the identified DNET and GG was observed during the follow up period. In low-grade DA, tumor growth was reduced and it is difficult to differentiate minimal perifocal edema from tumor-like tissue. The sensitivity of these tumors to contrast enhancement is ambiguous. Along with DNET (that was epileptogenic in 100% of cases, DA (91,7% and GG (80% were the most common epileptogenic brain tumors.

  18. Differential diagnosis of vertebral lesions with paraspinal mass with MRI

    International Nuclear Information System (INIS)

    Choi, Jae Ho; Choi, Jin Ok; Nam, Mee Young; Baek, In Gee; Park, Yang Sin; Rhee, Hak Song

    1997-01-01

    To assess the characteristic features of MR findings which would be useful for the differentiation of various spinal diseases involving paraspinal soft tissue mass. We retrospectively reviewed MR findings in 31 cases(M : F = 20 : 11) of spinal disease in which paraspinal mass was involved. The breakdown of cases was as follows : spinal tuberculosis, 12; spinal metastasis, 13; multiple myeloma, 3; pyogenic spondylitis, 2; spinal aspergillosis, 1. The pattern of bone marrow invasion in spinal metastasis, multiple myeloma, spinal tuberculosis and aspergillosis was mixed; focal, homogeneously diffuse and inhomogeneously patterns were seen. Pyogenic spondylitis showed inhomogeneously diffuse invasion; an intravertebral abscess was seen in the only five cases of spinal tuberculosis. Vertebral posterior compartment invasion was observed in seven cases of spinal tuberculosis, two of multiple myeloma, the one case of spinal aspergillosis and in all 13 cases of spinal metastasis. This and multiple myeloma showed no disc space invasion, in any case, but all cases of infectious spondylitis showed such invasion. Peripheral rim-enhancement in the paravertebral mass was seen in 11 cases of spinal tuberculosis, one case of pyogenic spondylitis and the case of aspergillosis. Bilobate anterior epidural mass was noted in 60% of spinal tuberculosis cases, 36% of spinal metastasis and one case of pyogenic spondylitis. MR findings of spinal disease involving a paraspinal soft tissue mass were useful for differentiation

  19. The diagnosis of obstructive sleep apnoea (Pickwickian syndrome)

    International Nuclear Information System (INIS)

    Stark, P.; Aguilar, E.A. Jr.; Robbins, K.T.

    1984-01-01

    Two patients with obstructive sleep apnoea are described and the value of computer tomography in the diagnosis and follow-up is stressed. Narrowing of the oro-pharynx is a major feature in the diagnosis of this condition and is best demonstrated by CT. (orig.) [de

  20. Proteomic Profiling for Identification of Novel Biomarkers Differentially Expressed in Human Ovaries from Polycystic Ovary Syndrome Patients.

    Directory of Open Access Journals (Sweden)

    Li Li

    Full Text Available To identify differential protein expression pattern associated with polycystic ovary syndrome (PCOS.Twenty women were recruited for the study, ten with PCOS as a test group and ten without PCOS as a control group. Differential in-gel electrophoresis (DIGE analysis and mass spectroscopy were employed to identify proteins that were differentially expressed between the PCOS and normal ovaries. The differentially expressed proteins were further validated by western blot (WB and immunohistochemistry (IHC.DIGE analysis revealed eighteen differentially expressed proteins in the PCOS ovaries of which thirteen were upregulated, and five downregulated. WB and IHC confirmed the differential expression of membrane-associated progesterone receptor component 1 (PGRMC1, retinol-binding protein 1 (RBP1, heat shock protein 90B1, calmodulin 1, annexin A6, and tropomyosin 2. Also, WB analysis revealed significantly (P<0.05 higher expression of PGRMC1 and RBP1 in PCOS ovaries as compared to the normal ovaries. The differential expression of the proteins was also validated by IHC.The present study identified novel differentially expressed proteins in the ovarian tissues of women with PCOS that can serve as potential biomarkers for the diagnosis and development of novel therapeutics for the treatment of PCOS using molecular interventions.

  1. Proteomic Profiling for Identification of Novel Biomarkers Differentially Expressed in Human Ovaries from Polycystic Ovary Syndrome Patients.

    Science.gov (United States)

    Li, Li; Zhang, Jiangyu; Deng, Qingshan; Li, Jieming; Li, Zhengfen; Xiao, Yao; Hu, Shuiwang; Li, Tiantian; Tan, Qiuxiao; Li, Xiaofang; Luo, Bingshu; Mo, Hui

    2016-01-01

    To identify differential protein expression pattern associated with polycystic ovary syndrome (PCOS). Twenty women were recruited for the study, ten with PCOS as a test group and ten without PCOS as a control group. Differential in-gel electrophoresis (DIGE) analysis and mass spectroscopy were employed to identify proteins that were differentially expressed between the PCOS and normal ovaries. The differentially expressed proteins were further validated by western blot (WB) and immunohistochemistry (IHC). DIGE analysis revealed eighteen differentially expressed proteins in the PCOS ovaries of which thirteen were upregulated, and five downregulated. WB and IHC confirmed the differential expression of membrane-associated progesterone receptor component 1 (PGRMC1), retinol-binding protein 1 (RBP1), heat shock protein 90B1, calmodulin 1, annexin A6, and tropomyosin 2. Also, WB analysis revealed significantly (Povaries as compared to the normal ovaries. The differential expression of the proteins was also validated by IHC. The present study identified novel differentially expressed proteins in the ovarian tissues of women with PCOS that can serve as potential biomarkers for the diagnosis and development of novel therapeutics for the treatment of PCOS using molecular interventions.

  2. Isolated Cataplexy in the Differential Diagnosis of Drop Attacks: A Case of Successful Clinical Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    Robert T. Egel

    2012-01-01

    Full Text Available Drop attacks are sudden spontaneous falls that are not accompanied by alteration of consciousness and are followed by immediate recovery. Cataplexy, which is usually associated with narcolepsy, is one of the causes of drop attacks. We report a patient with the rare condition of cataplexy without associated narcolepsy (isolated cataplexy. Isolated cataplexy should be included in the differential diagnosis when a patient presents with recurrent drop attacks and normal diagnostic test results.

  3. Spectrophotometric intracutaneous analysis for differential diagnosis of pigmented skin lesions

    Directory of Open Access Journals (Sweden)

    Е. V. Filonenko

    2013-01-01

    Full Text Available The non-invasive diagnosis of pigmented skin lesions by spectrophotometric intracutaneous analysis (SIA-scopy using device for dermatoscopy (SIAscope V by Astron Clinica, Ltd was approved in P.A.Herzen Moscow Cancer Research Institute. The method is based on analysis of light interaction with wavelength of 440–960 nm anf human skin, which is recorded by change of image on scan. The comparative analysis of SIA-scopy and histological data in 327 pigmented skin lesions in 147 patients showed, that SIA had high diagnostic efficiency for cutaneous melanoma: the sensitivity was 96%, specifity – 94%, diagnostic accuracy – 94%. For study of malignant potential of pigmented lesions by SIA-scopy the most informative capacity was obtained for assessment of melanin in papillary dermis, status of blood vessels and collagen fibres (SIA-scans 3, 4, 5.

  4. Preoperative differential diagnosis of adnexal lesions: Double contrast-MRI

    International Nuclear Information System (INIS)

    Reuter, M.; Steffens, J.C.; Schueppler, U.; Muhle, C.; Brinkmann, G.; Kohl, G.; Weisner, D.; Luettges, J.; Spielmann, R.P.; Heller, M.

    1996-01-01

    46 patients with benign (n=42) and malignant (n=4) cystic adnexal tumours underwent MRI of the pelvis. Transaxial and coronal images were acquired using conventional T 1 - and T 2 -weighted SE-sequences after oral administration of superparamagnetic iron oxide particles (Ferristene). Additional T 1 -weighted SE-images were obtained immediately following gadoliamide (Gd DTPA-BMA) injection. MRI correctly classified the four malignant lesions, whereas nine histologically benign lesions were misdiagnosed as malignant. Intravenous contrast yielded a superior delineation of intratumoural architecture. Due to exclusion of solid structures, MRI with oral and i.v. contrast enables to dismiss suspected malignity in cystic adnexal lesions. Because of the non-specificity of the macroscopic criteria of dignity, the MR diagnosis 'malignity' is of limited value. (orig./MG) [de

  5. 'Refeeding syndrome' in a Kuwaiti child: clinical diagnosis and management.

    Science.gov (United States)

    Al Sharkawy, Ibrahim; Ramadan, Dina; El-Tantawy, Amira

    2010-01-01

    To report a case of refeeding syndrome in a Kuwaiti child, its clinical presentation and management. A 13-month-old Kuwaiti boy presented with acute severe malnutrition in the form of marasmic kwashiorkor. On admission, blood sugar and serum electrolytes were normal but on the 3rd day he developed typical biochemical features of refeeding syndrome in the form of hyperglycemia, severe hypophosphatemia, hypokalemia, hypocalcemia and hypomagnesemia. The child then received treatment appropriate for refeeding syndrome in the form of lower calorie intake with gradual increase, as well as supplementation of electrolytes, thiamine and vitamins and he eventually made a safe recovery. This case showed that during rehabilitation of a malnourished child, a severe potentially lethal electrolyte disturbance (refeeding syndrome) can occur. Careful monitoring of electrolytes before and during the refeeding phase was needed and helped to detect this syndrome early. We suggest that slow and gradual calorie increase in the 'at-risk' patient can help prevent its occurrence. Copyright (c) 2010 S. Karger AG, Basel.

  6. Ultrasonography and prostate-specific antigen (PSA) in differential diagnosis of prostate cancer and benign prostatic hyperplasia

    International Nuclear Information System (INIS)

    Mechev, D.S.; Shcherbyina, O.V.; Yatsik, V.Yi.; Gladka, L.Yu.

    2003-01-01

    The purpose of the work is analysis of diagnostic possibilities of transrectal ultrasonography and PSA in differential diagnosis of prostate cancer and benign prostatic hyperplasia. 142 patients have been investigated by transrectal ultrasonography. he transrectal ultrasonography and PSA are sensible tests in diagnosis of prostate cancer and in differential diagnosis of benign prostatic hyperplasia and prostate cancer

  7. Infectious spondylitis and its differential diagnosis; Spondylitis und ihre Differenzialdiagnosen

    Energy Technology Data Exchange (ETDEWEB)

    Erlemann, Rainer [Helios St. Johannes Klinik, Duisburg (Germany). Inst. fuer Radiologie; Hoogeveen, Anja [AKH Viersen (Germany)

    2012-06-15

    Infectious spondylitis can be diagnosed early and reliably by MRI, given that the most important diagnostic criteria are present. These criteria are bone marrow edema adjacent to two contiguous vertebral end plates, disk space of high signal intensity and enhancement of bone adjacent to two contiguous vertebral end plates and of the disk space. If not all of these criteria are present, diagnostic accuracy decreases. Erosive osteochondritis, spondylarthritis, osteoporotic fractures of two contiguous vertebral end plates, active Schmorl's nodes as well as neuropathic spine may mimic an infectious spondylitis. This paper presents typical and atypical morphologic patterns of infectious spondylitis as well as the differentiation criteria from the above mentioned diseases. (orig.)

  8. Genital infections and syndromic diagnosis among HIV-infected women in HIV care programmes in Kenya.

    Science.gov (United States)

    Djomand, Gaston; Gao, Hongjiang; Singa, Benson; Hornston, Sureyya; Bennett, Eddas; Odek, James; McClelland, R Scott; John-Stewart, Grace; Bock, Naomi

    2016-01-01

    Control of genital infections remains challenging in most regions. Despite advocacy by the World Health Organization for syndromic case management, there are limited data on the syndromic approach, especially in HIV care settings. This study compared the syndromic approach with laboratory diagnosis among women in HIV care in Kenya. A mobile team visited 39 large HIV care programmes in Kenya and enrolled participants using population-proportionate sampling. Participants provided behavioural and clinical data with genital and blood specimens for lab testing. Among 1063 women, 68.4% had been on antiretroviral therapy >1 year; 58.9% were using cotrimoxazole prophylaxis; 51 % had CD4+T-lymphocytes Kenya have high rates of vaginal infections. Syndromic diagnosis was a poor predictor of those infections. © The Author(s) 2015.

  9. Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

    Directory of Open Access Journals (Sweden)

    Tahir M. Malla

    2016-01-01

    Full Text Available There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes.

  10. [Enteral distress syndrome in surgery: definition, pathogenesis, diagnosis].

    Science.gov (United States)

    Vlasov, A P; Trofimov, V A; Grigorieva, T I; Shibitov, V A; Vlasov, P A

    2016-01-01

    It was performed a comprehensive experimental and clinical study of functional and metabolic status of the intestine in acute peritonitis, pancreatic necrosis, acute intestinal obstruction. We obtained objective data of impaired barrier function based on levels of toxins in arterial and mesenteric venous blood. Association of organ and organismic homeostatic changes was revealed. It was proved an important role of membrane-destabilizing processes in intestinal epithelium as a cause of enteral insufficiency. Leading trigger mechanisms of lipid metabolic disorders were determined. Enteral distress syndrome was determined as pathological response to acute abdominal surgical diseases. Enteral distress syndrome is a complex of pathological processes due to membrane-destabilizing mechanisms, impaired intestinal barrier function followed by progression of endogenous intoxication. This syndrome significantly aggravates the course of acute surgical abdominal diseases.

  11. Clinical polymorphism of Allgrove (triple-A syndrome in children: Possibilities for early diagnosis and approaches to therapy

    Directory of Open Access Journals (Sweden)

    E. V. Tozliyan

    2016-01-01

    Full Text Available The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and treatments of the rare inherited disease Allgrove syndrome in children. Emphasis is placed on major difficulties in the differential and true diagnosis of this severe disease. The authors describe their clinical cases. Particular emphasis is laid on the clinical symptoms of the disease and on its diagnostic methods, among which the DNA diagnosis is of most importance. The probands were found to have mutations in the AAAS gene: in one case there was a mutation (c.856 C> T, p.Arg286Term in homozygous state, which is described in the International Human Mutation Database (CM 10151; in other case there was a change in nucleotide sequence (c.709 delC, which is undescribed in the mutation and polymorphism databases and which leads to premature termination of the protein. It is shown that awareness of Allgrove syndrome among clinicians is low and the interdisciplinary approach is of importance.

  12. Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders

    Institute of Scientific and Technical Information of China (English)

    GAO Ling-gen; YAO Xiu-ping; ZHANG Lin; HUI Ru-tai; ZHOU Xian-liang

    2011-01-01

    Marfan syndrome is a systemic disorder of connective tissue, caused by mutations in the FBN1, TGFBR1 or TGFBR2 genes. This syndrome is characterized by involvement of three major systems, skeletal, ocular, and cardiovascular. The continuing improvements in molecular biology and increasing availability of molecular diagnosis in clinical practice allow recognition of Marfan syndrome in patients with incomplete phenotypes. Additionally, molecular analyses could also be used for preimplantation genetic diagnosis. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening.

  13. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy

    International Nuclear Information System (INIS)

    Estroff, Judy A.

    2012-01-01

    Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies. (orig.)

  14. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy

    Energy Technology Data Exchange (ETDEWEB)

    Estroff, Judy A. [Harvard Medical School, Fetal-Neonatal Radiology, Boston, MA (United States); Children' s Hospital Boston, Advanced Fetal Care Center, Department of Radiology, Boston, MA (United States)

    2012-01-15

    Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies. (orig.)

  15. The diagnosis and lived experience of polycystic ovary syndrome: A qualitative study.

    Science.gov (United States)

    Tomlinson, Julie; Pinkney, Jonathan; Adams, Linda; Stenhouse, Elizabeth; Bendall, Alison; Corrigan, Oonagh; Letherby, Gayle

    2017-10-01

    To explore the impact of the diagnosis of polycystic ovary syndrome on health/ill health identity, how women experience this diagnosis and their health beliefs. Polycystic ovary syndrome is a common and heterogeneous condition, giving rise to a wide range of different health concerns. Previous research on polycystic ovary syndrome has been dominated by the medical perspective and less is known about the experiences and needs of women. A qualitative study of 32 premenopausal adult women with polycystic ovary syndrome (diagnosis confirmed by Rotterdam criteria), aged between 18 and 45 years, recruited from a primary and secondary care setting. Thematic analysis of transcripts from 11 focus groups conducted between 2013-2015. Women identified a range of concerns affecting personal and reproductive identity, health knowledge and beliefs: (1) delays and barriers to diagnosis; (2) general lack of empathy by the medical profession; (3) difficulty in accessing specialist referral; (4) lack of information from professionals; (5) inconsistent and sometimes unsatisfactory experiences with medications; (6) insufficient help and advice regarding in/fertility; (7) relative lack of awareness or concern about longer term risks such as diabetes; and (8) significant discrepancies between the beliefs of women with polycystic ovary syndrome and how they experienced the attitudes of healthcare professionals. There appears to be a divergence between women's experience and attitudes of healthcare professionals. The diagnosis, support and lived experience of women with polycystic ovary syndrome could be enhanced by better professional recognition of these concerns, improved knowledge and communication about polycystic ovary syndrome and better access to support and specialist advice. © 2017 John Wiley & Sons Ltd.

  16. Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.

    Science.gov (United States)

    Wirrell, Elaine C; Laux, Linda; Donner, Elizabeth; Jette, Nathalie; Knupp, Kelly; Meskis, Mary Anne; Miller, Ian; Sullivan, Joseph; Welborn, Michelle; Berg, Anne T

    2017-03-01

    To establish standards for early, cost-effective, and accurate diagnosis; optimal therapies for seizures; and recommendations for evaluation and management of comorbidities for children and adults with Dravet syndrome, using a modified Delphi process. An expert panel was convened comprising epileptologists with nationally recognized expertise in Dravet syndrome and parents of children with Dravet syndrome, whose experience and understanding was enhanced by their active roles in Dravet syndrome associations. Panelists were asked to base their responses to questions both on their clinical expertise and results of a literature review that was forwarded to each panelist. Three rounds of online questionnaires were conducted to identify areas of consensus and strength of that consensus, as well as areas of contention. The panel consisted of 13 physicians and five family members. Strong consensus was reached regarding typical clinical presentation of Dravet syndrome, range of electroencephalography and magnetic resonance imaging findings, need for genetic testing, critical information that should be conveyed to families at diagnosis, priorities for seizure control and typical degree of control, seizure triggers and recommendations for avoidance, first- and second-line therapies for seizures, requirement and indications for rescue therapy, specific recommendations for comorbidity screening, and need for family support. Consensus was not as strong regarding later therapies, including vagus nerve stimulation and callosotomy, and for specific therapies of associated comorbidities. Beyond the initial treatment with benzodiazepines and use of valproate, there was no consensus on the optimal in-hospital management of convulsive status epilepticus. We were able to identify areas where there was strong consensus that we hope will (1) inform health care providers on optimal diagnosis and management of patients with Dravet syndrome, (2) support reimbursement from insurance companies

  17. European survey of diagnosis and management of the polycystic ovary syndrome: results of the ESE PCOS Special Interest Group's Questionnaire.

    Science.gov (United States)

    Conway, Gerard; Dewailly, Didier; Diamanti-Kandarakis, Evanthia; Escobar-Morreale, Hector F; Franks, Steven; Gambineri, Alessandra; Kelestimur, Fahrettin; Macut, Djuro; Micic, Dragan; Pasquali, Renato; Pfeifer, Marija; Pignatelli, Duarte; Pugeat, Michel; Yildiz, Bulent

    2014-10-01

    There is evidence for differences between endocrinologists and other specialists in their approach to diagnosis and management of the polycystic ovary syndrome (PCOS). A mailed survey consisting of a simple questionnaire aiming to understand current practice for diagnosis and management of the PCOS by specialists across Europe. The questionnaire consisted of 23 questions grouped to achieve information on i) the general characteristics of the respondents, ii) patients with PCOS seen by endocrinologists, iii) the main diagnostic criteria, iv) biochemical parameters used in the differential diagnosis of hyperandrogenism, v) long-term concerns, and, finally vi) treatment choices. A total of 357 questionnaires representing 13.3% of the members of European Society of Endocrinology (ESE) were available for final analysis; 93% of the respondents were endocrinologists In relation to the diagnostic criteria, respondents were most likely to select menstrual irregularity as the most frequent criteria used for the diagnosis of PCOS although very high rates were achieved for the use of hirsutism and biochemical hyperandrogenism. It therefore appears that the NIH criteria were followed by the majority of respondents. The most frequent biochemical parameters in the differential diagnosis of hyperandrogenism were total testosterone or free androgen index. Obesity and type 2 diabetes were regarded as the principal long-term concerns for PCOS. The most common treatments for patients with PCOS were metformin (33%), lifestyle modification (25%), and oral contraceptives (22%). More direct treatments of infertility include clomiphene citrate alone or in combination with metformin, prescribed by 9 and 23%, respectively, whereas only 6% used other methods for induction of ovulation. The survey produced by ESE is a good start for evaluating the perspective in the diagnosis and treatment of PCOS by endocrinologists in Europe. © 2014 European Society of Endocrinology.

  18. Balloon Cell Urethral Melanoma: Differential Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    M. McComiskey

    2015-01-01

    Full Text Available Introduction. Primary malignant melanoma of the urethra is a rare tumour (0.2% of all melanomas that most commonly affects the meatus and distal urethra and is three times more common in women than men. Case. A 76-year-old lady presented with vaginal pain and discharge. On examination, a 4 cm mass was noted in the vagina and biopsy confirmed melanoma of a balloon type. Preoperative CT showed no distant metastases and an MRI scan of the pelvis demonstrated no associated lymphadenopathy. She underwent anterior exenterative surgery and vaginectomy also. Histology confirmed a urethral nodular malignant melanoma. Discussion. First-line treatment of melanoma is often surgical. Adjuvant treatment including chemotherapy, radiotherapy, or immunotherapy has also been reported. Even with aggressive management, malignant melanoma of the urogenital tract generally has a poor prognosis. Recurrence rates are high and the mean period between diagnosis and recurrence is 12.5 months. A 5-year survival rate of less than 20% has been reported in balloon cell melanomas along with nearly 20% developing local recurrence. Conclusion. To the best of our knowledge, this case is the first report of balloon cell melanoma arising in the urethra. The presentation and surgical management has been described and a literature review provided.

  19. Differential diagnosis in the sonographic evaluation of adrenal metastases

    International Nuclear Information System (INIS)

    Ferrari, F.; Fagioli Zucchi, A.; Saloni, E.; Terrosi Vagnoli, P.; Disanto, A.

    1989-01-01

    The sonographic detection of adrenal masses in patients with neoplasms, especially neoplasms of the lung, can be related to the presence of both metastases and adenomas. In order to assess the benign/malignant nature of the such lesions, the adrenal glands of 43 patients with neoplasms (36 of them lung cancers) were studied with sonography (US) and fine needle aspiration biopsy (FNAB): in all, 58 masses were seen (28 monolateral and 15 bilateral). Six lesions (13%) presented with cytological features of benignancy, and on US they appeared as hypoechoic (as compared to the liver), round masses, with regular margins, ranging in size from 1.2 cm to 3.4 cm (average: 2.6 cm). In the remaining 34 patients (80%), cellular material with features of malignancy was obtained with FNAB. The US appearence of these metastases was heterogenous, with the same echogenicity as the liver, and average size >3 cm. On the basis of data obtained, the limit of 3 cm (if we consider the average dimension), corresponds to the threshold of benignancy, as well as the monolateral and hypoechoic appearence of the lesion. To sum up, the use of FNAB should be limited to those lesions which present with typical adenomatous features and for borderline lesions, while the diagnosis of metastases is sufficiently accurate (p 3 cm

  20. Differential diagnosis in the sonographic evaluation of adrenal metastases

    Energy Technology Data Exchange (ETDEWEB)

    Ferrari, F; Fagioli Zucchi, A; Saloni, E; Terrosi Vagnoli, P [Siena Univ. (Italy). Ist. di Scienze Eidologiche e Radiologiche; Disanto, A [Siena Univ. (Italy). Ist. di Anatomia Patologica

    1989-01-01

    The sonographic detection of adrenal masses in patients with neoplasms, especially neoplasms of the lung, can be related to the presence of both metastases and adenomas. In order to assess the benign/malignant nature of the such lesions, the adrenal glands of 43 patients with neoplasms (36 of them lung cancers) were studied with sonography (US) and fine needle aspiration biopsy (FNAB): in all, 58 masses were seen (28 monolateral and 15 bilateral). Six lesions (13%) presented with cytological features of benignancy, and on US they appeared as hypoechoic (as compared to the liver), round masses, with regular margins, ranging in size from 1.2 cm to 3.4 cm (average: 2.6 cm). In the remaining 34 patients (80%), cellular material with features of malignancy was obtained with FNAB. The US appearence of these metastases was heterogenous, with the same echogenicity as the liver, and average size >3 cm. On the basis of data obtained, the limit of 3 cm (if we consider the average dimension), corresponds to the threshold of benignancy, as well as the monolateral and hypoechoic appearence of the lesion. To sum up, the use of FNAB should be limited to those lesions which present with typical adenomatous features and for borderline lesions, while the diagnosis of metastases is sufficiently accurate (p<0.001) in case of bilateral or isoechoic lesions >3 cm.