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Sample records for syndrome differential diagnosis

  1. [Diagnosis and differential diagnosis of Cushing's syndrome].

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    Santos, Silvia; Santos, Estefanía; Gaztambide, Sonia; Salvador, Javier

    2009-02-01

    Because of the variability in the clinical expression of Cushing's syndrome, different biochemical tests and imaging techniques must be used for effective diagnosis and treatment. The clinical history is important to assess the general impact of hypercortisolism on organs and systems, as well as to guide suspicion toward more aggressive entities such as overt ectopic ACTH syndrome or to detect an iatrogenic etiology of Cushing's syndrome. The screening phase relies on tests that are sensitive but not specific, such as urinary free cortisol, nocturnal salivary cortisol and 1 mg dexamethasone suppression, which still require established assessment criteria. Confirmation can be obtained by repeating urinary cortisol, 2 mg/day dexamethasone suppression, both alone and combined with corticotropin releasing hormone (CRH), to exclude pseudoCushing states. ACTH dependency can be easily explored by ACTH measurements, but the differential diagnosis between pituitary and ectopic Cushing's disease is difficult and may require invasive procedures such as inferior petrosal sinus sampling. Sophisticated imaging and isotopic techniques play a significant role in locating the source of ACTH in ectopic syndromes but are not always effective. In general, biochemical and imaging tests should be combined in order to assess different mechanisms and perspectives of the syndrome. Rigorous methodology is essential to obtain accurate results, allowing a correct diagnosis and improving therapeutic performance in this devastating disease.

  2. Non lethal Raine syndrome and differential diagnosis.

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    Elalaoui, Siham Chafai; Al-Sheqaih, Nada; Ratbi, Ilham; Urquhart, Jill E; O'Sullivan, James; Bhaskar, Sanjeev; Williams, Simon S; Elalloussi, Mustapha; Lyahyai, Jaber; Sbihi, Leila; Cherkaoui Jaouad, Imane; Sbihi, Abdelhafid; Newman, William G; Sefiani, Abdelaziz

    2016-11-01

    Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized osteosclerosis. Amelogenesis imperfecta, hearing loss, seizures, and intracerebral calcification are apparent in some affected individuals. Originally, Raine syndrome was originally reported as a lethal syndrome. However, recently a milder phenotype, compatible with life, has been described. Biallelic variants inFAM20C, encoding aGolgi casein kinase involved in biomineralisation, have been identified in affected individuals. We report here a consanguineous Moroccan family with two affected siblingsa girl aged 18 and a boy of 15years. Clinical features, including learning disability, seizures and amelogenesis imperfecta, initially suggested a diagnosis of Kohlschutter-Tonz syndrome. However,a novel homozygous FAM20Cvariantc.676T > A, p.(Trp226Arg) was identified in the affected siblings. Our report reinforces that Raine syndrome is compatible with life, and that mild hypophosphatemia and amelogenesis imperfecta are key features of the attenuated form. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  3. Differential diagnosis of food protein-induced enterocolitis syndrome.

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    Fiocchi, Alessandro; Claps, Alessia; Dahdah, Lamia; Brindisi, Giulia; Dionisi-Vici, Carlo; Martelli, Alberto

    2014-06-01

    To assess all the possible differential diagnosis of food protein-induced enterocolitis syndrome (FPIES), both in acute and chronic presentation, reviewing the data reported in published studies. There is an increase of reported cases of FPIES in recent years. As the disease presents with nonspecific symptoms, it can be misunderstood in many ways. The differential diagnosis includes, in acute presentations, the following: sepsis, other infectious diseases, acute gastrointestinal episodes, surgical emergencies, food allergies. In its chronic forms, FPIES may mimic malabsorption syndromes, metabolic disorders, primary immunodeficiencies, neurological conditions, coagulation defects, and other types of non-IgE-mediated food allergy. A thorough clinical evaluation, including symptoms, signs, and laboratory findings, is necessary to lead the clinicians toward the diagnosis of FPIES. The major reason for delayed diagnosis appears to be the lack of knowledge of the disease.

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

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    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.

  5. 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

  6. [Gitelman's syndrome: an important differential diagnosis of hypokalemia].

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    Kurschat, C; Heering, P; Grabensee, B

    2003-05-30

    A 26-year-old woman presented with fatigue, muscle cramps and weakness. Since the age of 8 years she had moderate hypokalemia of unknown origin that was confirmed on multiple occasions. There was no family history of disease. Laboratory tests showed moderate to severe hypokalemia with a serum potassium concentration of 2.7 to 3.0 mmol/l, hypomagnesemia, metabolic alkalosis and pronounced stimulation of the renin-angiotensin-aldosterone system. Despite normal serum calcium levels, urinary calcium excretion was below the detection threshold. Increased natriuresis was observed after administration of furosemide, but not after administration of hydrochlorothiazide. This finding pointed to the presence of a non-functional thiazide-sensitive sodium/chloride cotransporter in the distal convoluted tubule, characteristic for Gitelman's syndrome. Genetic analysis confirmed the diagnosis of Gitelman's syndrome and documented two heterozygous mutations in the gene encoding the sodium/chloride cotransporter. The patient was treated with 160 mmol potassium and 30 mmol magnesium supplementation per day. Serum potassium was normalized and magnesium serum levels increased. Weakness and fatigue improved markedly. Gitelman's syndrome is an important differential diagnosis in the evaluation of the normotensive patient with hypokalemia.

  7. The investigation and differential diagnosis of Asperger syndrome in adults.

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    Lehnhardt, Fritz-Georg; Gawronski, Astrid; Pfeiffer, Kathleen; Kockler, Hanna; Schilbach, Leonhard; Vogeley, Kai

    2013-11-08

    As a result of the increased public interest in autism spectrum disorders (ASD), certain core manifestations of ASD--impaired social interaction and communication, bizarre interests--are now commonly recognized as being typical of autism, not only in children, but in adults as well. More often than before, general practitioners, neurologists, and psychiatrists find themselves being asked whether a patient is suffering from previously unrecognized Asperger syndrome (AS). The prevalence of ASD is estimated at 1%, and the ratio of diagnosed to undiagnosed cases at about 3:2. Little is known about the diagnostic evaluation of AS in adulthood. We selectively searched the Medline database for pertinent literature, paying special attention to diagnostic manuals and to the guideline of the United Kingdom's National Institute for Health and Care Excellence (NICE). Centrally important aspects of the diagnosis of AS include an assessment of the patient's ability to assume the emotional perspectives of others, non-verbal modes of expression, repetitive behavior patterns, and childhood social behavioral history. The autism quotient (AQ) is now established as a simple but nonspecific screening test. Up to 70% of all affected adults have comorbid disturbances, most often depression and anxiety disorders. The differential diagnosis includes personality disorders, anxiety disorders, obsessive-compulsive disorder, and attention deficit-hyperactivity disorder. The diagnostic assessment should proceed in stepwise fashion, starting from simple screening in primary care and then moving on to evaluation of the suspected diagnosis by a mental health care specialist, followed by extensive further investigation in an outpatient clinic specifically devoted to patients with autism spectrum disorders. The diagnostic assessment of autism in adults requires knowledge of the core and accompanying manifestations of autism and of their differential diagnoses. More research is needed for the

  8. Olfactory Reference Syndrome: Diagnostic Criteria and Differential Diagnosis

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    Lochner C

    2003-01-01

    Full Text Available Olfactory reference syndrome (ORS has been defined as a psychiatric condition characterized by persistent preoccupation about body odour accompanied by shame, embarrassment, significant distress, avoidance behaviour and social isolation. ORS has however not been included in the Diagnostic and Statistical Manual of Mental Disorders (4th edition (DSM-IV and, given that its primary symptoms may be found in various other disorders, differential diagnosis can be problematic. Using an illustrative case of ORS, we propose diagnostic criteria for ORS. We also argue that ORS represents a unique cluster of symptoms that can be delineated as a separate diagnostic entity, and that ORS falls on a spectrum of social anxiety disorders that includes social anxiety disorder, taijin kyofusho, and body dysmorphic disorder.

  9. Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis

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    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.

  10. Restless legs syndrome: differential diagnosis and management with pramipexole

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    Francesca Brindani

    2009-06-01

    Full Text Available Francesca Brindani, Francesca Vitetta, Franco GemignaniDepartment of Neurosciences, University of Parma, ItalyAbstract: Restless legs syndrome (RLS is a condition characterized by discomfort at rest and urge to move focused on the legs. RLS may occur as an idiopathic, often hereditary condition (primary RLS, or in association with medical conditions (secondary RLS including iron deficiency, uremia, and polyneuropathy. Current understanding of the pathophysiology of RLS points to the involvement of three interrelated components: dopaminergic dysfunction, impaired iron homeostasis, and genetic mechanisms. The diagnosis of RLS is made according to the consensus criteria by a National Institutes of Health panel: 1 an urge to move the legs, usually accompanied by uncomfortable sensations; 2 beginning or worsening during rest; 3 relieved by movement; and 4 worse, or only occurring, in the evening or at night. The differential diagnosis of RLS aims to: 1 distinguish RLS from other disorders with RLS-like symptoms and 2 identify secondary forms, with investigation of underlying diseases. The treatment of RLS demands a clinical evaluation to rule out and cure causes of secondary RLS, including iron supplementation when deficient, and to eliminate the triggering factors. The presence of neuropathy should be especially investigated in nonhereditary, late-onset RLS, in view of a possible treatment of the underlying disease. The first line treatment for idiopathic RLS is represented by dopamine agonists, in particular nonergot-derived ropinirole and pramipexole, whereas ergot dopamine agonists (cabergoline and pergolide are no longer in first-line use given the risks of cardiac valvulopathy. Although no comparative trials have been published, a meta-analysis of pramipexole versus ropinirole suggests differences in efficacy and tolerability favoring pramipexole.Keywords: restless legs syndrome, pramipexole, dopamine, agonists, small fiber neuropathy

  11. Clinical features and differential diagnosis of flail arm syndrome.

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    Hübers, Annemarie; Hildebrandt, Viviane; Petri, Susanne; Kollewe, Katja; Hermann, Andreas; Storch, Alexander; Hanisch, Frank; Zierz, Stephan; Rosenbohm, Angela; Ludolph, Albert C; Dorst, Johannes

    2016-02-01

    Flail arm syndrome (FAS) is a variant of motor neuron disease which is characterized by progressive, predominantly proximal weakness and atrophy of the upper limbs (UL). Because of its heterogeneous presentation and its relatively slow progression, differential diagnosis may be difficult particularly in the early stages of the disease. The aim of this study was to investigate typical clinical features of FAS with special regard to initial symptoms and differences to classical Charcot type amyotrophic lateral sclerosis (ALS). We retrospectively evaluated the clinical features of 42 FAS patients who were seen in the outpatient clinics of 4 German centers between 2000 and 2010 and compared them to 146 sex-matched control patients with classical spinal-onset ALS. FAS patients were younger (54.7 ± 9.3 versus 59.4 ± 12.2 years), male patients were predominantly affected (3.8:1 versus 1.9:1), and FAS patients showed a prolonged survival (53 versus 33 months) compared to classical ALS patients. The share of patients with initial misdiagnoses was 54.8% and led to ineffective therapy with immunoglobulins in 26%. Initial symptoms were most frequently present either in distal muscles only or in both proximal and distal muscle groups combined (76%) and showed an asymmetric distribution pattern in the majority of cases (76%). Although all patients developed symmetric and predominantly proximal UL weakness and atrophy during the course of their disease, we found that most patients initially showed asymmetric and predominantly distal distribution of symptoms. This may contribute to difficulties in differential diagnosis and to ineffective treatment regimes.

  12. [Parinaud's oculoglandular syndrome. A rare differential diagnosis of "red eye"].

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    Jäckel, M C; Glock, T; Künster, A

    2006-01-01

    Two cases of Parinaud's oculoglandular syndrome, which represents an ocular manifestation of cat-scratch disease, are reported. The symptoms are subacute and include unilateral conjunctivitis and pre-auricular lymphadenopathy. Diagnosis primarily relies on the recognition of suggestive clinical signs in conjunction with positive serologic testing. In most cases, therapy is not necessary.

  13. 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

  14. Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism.

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    Aji, B M; Medley, G; O'Driscoll, K; Larner, A J; Alusi, S H

    2013-07-15

    A patient with a mood disorder and a Parkinsonian syndrome with frontal cognitive impairment thought to resemble progressive supranuclear palsy defied precise diagnosis until the development of respiratory compromise, prompting consideration of the diagnosis of Perry syndrome. A mutation in the dynactin 1 gene confirmed the diagnosis. Few examples of this disorder, characterised by depression, Parkinsonism, and respiratory insufficiency, have been reported but it may be more commonly recognised with the availability of genetic testing. Perry syndrome needs to be considered in the differential diagnosis of Parkinsonism, particularly in autosomal dominant pedigrees. Diagnosis early in the disease course may facilitate monitoring and prompt intervention to avoid potentially fatal respiratory failure. Copyright © 2013 Elsevier B.V. All rights reserved.

  15. Review of Brown-Vialetto-Van Laere syndrome and differential diagnosis

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    Shahryar Nafisi

    2011-09-01

    Full Text Available Background: Brown-Vialetto-Van Laere syndrome is a neurological devastating condition classified as one of motor neuron disorders. In spite of rarity, it has a widespread distribution. It mostly presented with progressive pontobulbar palsy and bilateral deafness. Diagnosis is based on clinical and electrophysiological findings. Methods: We reviewed related articles by search in pub med, Ovid, Cochrane library and Scopus database. The used key words included motor neuron disorders, Brown-Vialetto-Van laere Syndrome, progressive pontobulbar palsy and sensorineural deafness. Results: The search culminated in 351 articles which 25 were correlated with the subject of our study. The results are presented in epidemiology, pathogenesis, clinical features, diagnosis and differential diagnosis subtitles. Conclusion: In this study Brown-Vialetto-Van Laere syndrome is explained regarding laboratory and clinical findings in previously reported cases. Similar syndromes based on discriminating features were also described.

  16. [Differential diagnosis of nephritic and nephrotic syndroms in children].

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    Masalskiene, Jūrate

    2003-01-01

    The aim of this study was to compare clinical and laboratory features of children with acute poststreptococcal glomerulonephritis and steroid sensitive nephrotic syndrome. We have examined 30 children with acute poststreptococcal glomerulonephritis and 17 children with steroid sensitive nephrotic syndrome, who arrived for hospitalization at Kaunas University of Medicine Hospital in 1997-2000. All patients not later than in ten days from the onset of acute glomerulonephritis and 14 days later were given a standartized clinical and laboratorical examination following a record. We determined that hematuria is universal finding of acute poststreptococcal glomerulonephritis and proteinuria was found in all patients with steroid sensitive nephrotic syndrome. Microscopic hematuria and proteinuria were persisted in children who had acute poststreptococcal glomerulonephritis. Anemia was found only in patients who were ill with acute poststreptococcal glomerulonephritis. After 14 days of treatment it was determined in 38.5% of children. Hypoproteinemia was established in 69.2% of children and hypercholesterolemia in 92.3% of children with steroid sensitive nephrotic syndrome after two weeks of treatment. Decreased glomerular filtration rate was characteristic feature of acute poststreptococcal glomerulonephritis.

  17. The anterior recurrent peroneal nerve entrapment syndrome: a patellar tendinopathy differential diagnosis case report.

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    Rousseau, Eric

    2013-12-01

    Patellar tendinopathy which is a cause of pain in the inferior patellar region is a relatively common pathology among sports enthusiasts. This paper describes a new pain syndrome identified from clinical observations which is a differential diagnosis to patellar tendinopathy. The pattern is specific and recognizable among many individuals, and it should be considered as its own entity. The new syndrome is discussed in terms of the pain experienced, the diagnostic criteria, treatment and the rationale to explain it. As it is a differential diagnosis to patellar tendinopathy, many sports enthusiasts might benefit from this diagnosis. If identified correctly, treatment might be directed to the correct structures and with the appropriate modalities, ensuring the patients a fast return to their past occupations without pain and without unwarranted treatments. Copyright © 2012 Elsevier Ltd. All rights reserved.

  18. [Restless legs syndrome and nocturnal leg pain : Differential diagnosis and treatment].

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    Hornyak, M; Stiasny-Kolster, K; Evers, S; Happe, S

    2011-09-01

    Pain in the legs belongs to the five most frequent regional pain symptoms. Restless legs syndrome (RLS) presents a particular differential diagnosis for pain in the legs, which is characterized by a nocturnal urge to move the legs often associated with painful sensations in the legs. It is one of the most common neurological disorders and probably the leading cause of nocturnal pain in the legs. In this overview, the diagnosis and therapy of RLS as well as aspects of pain therapy of the disorder are presented. In addition, the differential diagnoses for exclusion of other specific causes of nocturnal pain in the legs are discussed.

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

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    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.

  20. Some aspects of differential diagnosis of pain syndromes in discogenic neurocompression pathology

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    E.G. Pedachenko

    2017-04-01

    Full Text Available Background. A lot of factors may cause development of failed back surgery syndrome after disc hernia (DH excision. One of them is non-adequate preoperative choice with over-diagnosis or over-estimation of clinical value of discogenic neurocompression pathology (DNP. Neurosurgical intervention is poor effective or in-effective if combined with prevailing non-vertebral disorder or the DH is a mask of another pathology, concomitant silent MRI finding. The purpose of the study was to improve preoperative choice of DH patients due to improvement of differential diagnosis of discogenic neurocompression and other pathologies associated with cervicobrachial or low back or pelvic pain or pain syndrome in extremities. Materials and methods. According to data of the Background. A lot of factors may cause development of failed back surgery syndrome after disc hernia (DH excision. One of them is non-adequate preoperative choice with over-diagnosis or over-estimation of clinical value of discogenic neurocompression pathology (DNP. Neurosurgical intervention is poor effective or in-effective if combined with prevailing non-vertebral disorder or the DH is a mask of another pathology, concomitant silent MRI finding. The purpose of the study was to improve preoperative choice of DH patients due to improvement of differential diagnosis of discogenic neurocompression and other pathologies associated with cervicobrachial or low back or pelvic pain or pain syndrome in extremities. Materials and methods. According to data of the Clinic of Minimally Invasive and Laser Spinal Neurosurgery of SI “Romodanov Neurosurgery Institute of NAMS of Ukraine” (2013–2015 just 35.3 % of DH patients consulted for persistent pain syndrome had DNP and required surgical intervention. The rest patients (674.7 % did not undergo DH excision as other disorders caused pain. In this group of patients (4437 with clinically not significant DH the reasons for pain syndrome were assessed

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

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    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.

  2. differential diagnosis

    African Journals Online (AJOL)

    Pervasive developmental disorders. Disruptive behaviour disorder. (conduct and oppositional defiant disorders). Learning disabilities. Childhood psychosis. Medical disorders. Chronic diseases such as congenital heart disease, asthma, chronic renal failure, fetal-alcohol syndrome, thyroid diseases and other endocrine.

  3. Herlyn-Werner-Wunderlich syndrome: MRI findings, radiological guide (two cases and literature review), and differential diagnosis.

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

    2012-03-09

    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.

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

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    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.

  5. Diagnosis of Neonatal Transient Tachypnea and Its Differentiation From Respiratory Distress Syndrome Using Lung Ultrasound

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    Liu, Jing; Wang, Yan; Fu, Wei; Yang, Chang-Shuan; Huang, Jun-Jin

    2014-01-01

    Abstract Transient tachypnea of the newborn (TTN) is one of the most common causes of perinatal dyspnea and is traditionally diagnosed by chest x-ray. This study aimed to explore the diagnostic value of lung ultrasonography (LUS) for TTN as well as differentiate it from respiratory distress syndrome (RDS) by using LUS. From January 2013 to February 2014, 60 infants who were diagnosed with TTN based on medical history, clinical manifestations, arterial blood gas analysis, and chest radiography were recruited to the study group. During the same period, 40 hospitalized neonates with nonlung diseases and 20 patients with RDS were recruited to the control group. In a quiet state, infants were placed in the supine, lateral, or prone position for the examination. Each lung of every infant was divided into 3 regions: the anterior, lateral, and posterior regions as bordered by the anterior axillary and posterior axillary lines. The probe was placed perpendicular to the ribs. Each region of both the lungs was carefully scanned. The common ultrasonographic manifestations of TTN were double-lung point (DLP), interstitial syndromes or white lungs, pleural line abnormalities, and A-line disappearance. A small number of infants (20%) with TTN exhibited pleural effusions, whereas the main ultrasonographic manifestation of RDS was lung consolidation with air bronchograms, which does not occur in TTN. The sensitivity and specificity of DLP for the diagnosis of TTN were 76.7% and 100%, respectively. LUS can accurately and reliably diagnose TTN. The DLP and lung consolidation possess great value in the diagnosis and differential diagnosis of TTN with RDS. Thus, we believe that LUS can be widely used in neonatal intensive care units. PMID:25501071

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

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    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.

  7. Clinically isolated syndrome manifested as acute vestibular syndrome: bedside neuro-otological examination and suppression of transient evoked otoacoustic emissions in the differential diagnosis.

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    Veros, Konstantinos; Blioskas, Sarantis; Karapanayiotides, Theodoros; Psillas, Georgios; Markou, Konstantinos; Tsaligopoulos, Miltiadis

    2014-01-01

    A case of a 34-year old woman with acute vestibular syndrome caused by a demyelinating lesion in the root entry zone of the 8th cranial nerve is presented. Neuro-otological bedside examination and suppression of transient evoked otoacoustic emissions provided objective clinical evidence of a retrolabyrinthine lesion. Magnetic resonance imaging and the presence of oligoclonal IgG bands in cerebrospinal fluid analysis established the diagnosis of clinically isolated syndrome. This case report highlights the clinical information provided by the neuro-otologist in the differential diagnosis of the acute vestibular syndrome and the diagnosis of possible multiple sclerosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. [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.

  9. [Campomelic syndrome. Difficulties in early differential diagnosis from other syndromes involving deformation of the long bones using echography].

    Science.gov (United States)

    Kervran, T; Cigarme, A; Ferrier, M H; le Roux, J L; Rebour, P; Chabaud, J J; Martin, J

    1990-11-01

    One case of "campomélique" dysplasia discovered by echography at 17 weeks is reported. The details of the syndrome are recalled. In this particular case, only the histology enabled the exact diagnosis to be made. The distinction between "syndrome campomélique" and other syndromes involving deformation of long bones (imperfect osteogenesis of the foetal type and isolated curvature of the tibia) is not easy during early pregnancy using echography alone. At a later stage, the signs and symptoms become more distinct and an exact diagnosis is probably easier.

  10. Clinical features and differential diagnosis of acute idiopathic blind spot enlargement syndrome.

    Science.gov (United States)

    Liu, Xiaocui; Chen, Bing; Zhang, Maonian; Huang, Houbin

    2014-09-01

    To study the clinical manifestations and the diagnostic and differential diagnostic characteristics of acute idiopathic blind spot enlargement syndrome (AIBSES). Six patients diagnosed with AIBSES underwent complete eye examinations including fundus photography, fundus fluorescein angiography(FFA), indocyanine green angiography (ICGA), optical coherence tomography (OCT), electroretinogram (ERG), and visual field examinations. All patients had enlarged blind spots of variable sizes and densities. Three eyes had mild swelling of the optic disc and one eye had peripapillary scarring that corresponded to the permanent field defect. Two patients who underwent FFA had fluorescein leakage of blood vessels around the optic disc and ICGA highlighted diffuse, small hypofluorescent spots scattering throughout the posterior pole. OCT showed that the inner and outer segment (IS/OS) line were absent in five patients and the middle cone outer segment tip line was absent in the nasal macular area in one eye. AIBSES is a rare outer retinopathy. Visual field examination and OCT are the most important means of detection. ICGA and FAF can determine the range of lesions earlier, and the progress of the disease should be taken into account when making a diagnosis.

  11. [Communication disorders: differential diagnosis].

    Science.gov (United States)

    Campos-Castelló, J; Briceño-Cuadros, S

    To evaluate components of clinical semiology in the differential diagnosis of communication disorders (TC) and their possible biological markers. We consider two groups, according to the communication disorders themselves and their effects on social interaction. In the first case both aspects are affected in parallel and in the second it is predominantly social interaction which is affected. In the first groups we studied dyslalias, dyrhrythmias, acquired aphasias, TC relation to epilepsy, types of seizures and EEG discharges. The dysphasia of development and epilepsy may be associated by chance, as a result of the same cause or the epilepsy be responsible for the TC, either because of seizures or continuously (acquired epileptic aphasia, SLK). Based on personal data and the literature we studied the semiology, possible biological markers and differential diagnosis. We consider disorders of neurone migration and metabolic alterations of initial neuropsychological semiology and cerebellar anomalies involved in cognitive functions. In the second group we assessed autism, generalized disorders of development and particular syndromes with semantic pragmatic TC. The development of language cannot be separated from other aspects of neurological maturation. One cannot affirm that there is a direct relationship between epilepsy and TC, although this does occur in some cases. We accept the hypothesis that SLK, POCSL and atypical EPB are clinical forms of the same syndrome of epilepsy. Recognition of the cognitive affective cerebellar syndrome by its involvement in social executive function, language and personality characterizes certain conditions (Williams, Asperger, fragile X, autism). A progressive rational battery of complementary studies on clinical data is essential to determine biological markers in syndromes which still lack them.

  12. 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.

  13. 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.

  14. 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.

  15. An Approach to Differential Diagnosis of Antiphospholipid Antibody Syndrome and Related Conditions

    Directory of Open Access Journals (Sweden)

    Giacomo Emmi

    2014-01-01

    Full Text Available The antiphospholipid antibody syndrome is a systemic, acquired, immune-mediated disorder characterized by episodes of venous, arterial, or microcirculation thrombosis and/or pregnancy abnormalities, associated with the persistent presence of autoantibodies, confirmed at least in two occasions 12 weeks apart, directed to molecular complexes consisting of phospholipids and proteins. Antiphospholipid antibody syndrome should always be considered as a potential diagnosis especially for young patients presenting with a history of thrombotic events, in particular when they occur without any obvious external trigger or any inherited thrombophilic mutation (even if 2006 criteria do not exclude antiphospholipid antibody syndrome in patients with other inherited or acquired prothrombotic conditions, or for women with recurrent pregnancy losses or later fetal deaths. Many other disorders are able to mimic antiphospholipid antibody syndrome, so a broad range of alternative diagnoses should be investigated and ruled out during clinical workup.

  16. 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

  17. Copeptin role in polyuria-polydipsia syndrome (PPS) differential diagnosis and reference range in paediatric age.

    Science.gov (United States)

    Tuli, Gerdi; Tessaris, Daniele; Einaudi, Silvia; Matarazzo, Patrizia; de Sanctis, Luisa

    2018-02-21

    Plasma arginine-vasopressin (AVP) analysis can help in the differential diagnosis of the polyuria-polydipsia syndrome (PPS), even if such investigation is hampered by technical difficulties, conversely to its surrogate copeptin. This study aims to enlarge the existing data on normal copeptin levels in childhood, to evaluate the correlation between copeptin, serum sodium and plasma and urine osmolality, and to assess the utility of the copeptin analysis in the diagnostic work-up of PPS in the paediatric age. Plasma copeptin levels were evaluated in 53 children without AVP disorders (control population), in 12 hypopituitaric children and in 15 patients with PPS after water deprivation test (WDT). Mean basal copeptin levels were 5.2±1.56 (range 2.4-8.6 pmol/L) in the control population, 2.61±0.49 pmol/L in the hypopituitaric children with complete diabetes insipidus (CDI) (p=0.04), and 6.21±1.17 pmol/L in the hypopituitaric patients without DI (p=0.02). After WDT, among 15 naïve polyuric/polydipsic children copeptin values greater than 20 pmol/liter allowed to identify nephrogenic diabetes insipidus (NDI), concentrations below 2.2 pmol/liter complete central DI (CCDI) and between 5-20 pmol/l primary polydipsia (PP). Copeptin cut-off level of 3.5 pmol/l distinguished CDI from PP, with a sensitivity and specificity of 75% and 83.3%, respectively. Copeptin evaluation holds promises as a diagnostic tool in paediatric PPS; its interpretation might be useful to promptly distinguish NDI, even avoiding the WDT need. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  18. 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.

  19. 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

  20. 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...... ear ossicles, short cochleas, defectively differentiated Meckel's cartilages, micrognathia, rudimentary malar bones, lateral facial clefts, fistulas and skin tags, all of which were similar to Treacher Collins' syndrome in man. The defects were accompanied by a pathological differentiation pattern...

  1. Cannabinoid hyperemesis syndrome: an important differential diagnosis of persistent unexplained vomiting.

    Science.gov (United States)

    Ruffle, James K; Bajgoric, Sanjin; Samra, Kiran; Chandrapalan, Subashini; Aziz, Qasim; Farmer, Adam D

    2015-12-01

    Chronic nausea and vomiting have a detrimental impact on quality of life. When standard diagnostic investigations fail to provide a definitive diagnosis, patients are often attributed as having a functional gastrointestinal disorder such as cyclic vomiting syndrome. Cannabinoid hyperemesis syndrome (CHS) is a relatively recently described entity presenting with symptoms similar to cyclic vomiting syndrome. We carried out a retrospective cohort study of all patients attending a tertiary neurogastroenterology and secondary care gastroenterology clinic from 2013 to 2015. Data were obtained by review of clinical notes, letters and electronic patient records. We identified 10 cases of CHS (five men, mean age 27 years, range 19-51), who hitherto had been labelled with a variety of alternative diagnoses. All patients had symptoms that were episodic and refractory to medical therapy. Patients had experienced symptoms for a mean of 19.3±11.09 months before diagnosis. The median length of cannabinoid use was 42 months (interquartile range: 15-81.8). Eight patients (80%) had a history of compulsive hot water bathing (hydrophilia). The patients had a median follow-up of 9.5 months (range 1-20), during which symptoms recurred in three patients who returned to regular cannabis use. CHS is an underappreciated cause of recurrent nausea and vomiting and is frequently misdiagnosed. Healthcare providers should have a low index of suspicion for diagnosing CHS and the clinical history in such patients should routinely include direct questioning on cannabis use. The prognosis is very good upon cessation of cannabis intake.

  2. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

    Science.gov (United States)

    Bode, Sebastian Fn; Ammann, Sandra; Al-Herz, Waleed; Bataneant, Mihaela; Dvorak, Christopher C; Gehring, Stephan; Gennery, Andrew; Gilmour, Kimberly C; Gonzalez-Granado, Luis I; Groß-Wieltsch, Ute; Ifversen, Marianne; Lingman-Framme, Jenny; Matthes-Martin, Susanne; Mesters, Rolf; Meyts, Isabelle; van Montfrans, Joris M; Pachlopnik Schmid, Jana; Pai, Sung-Yun; Soler-Palacin, Pere; Schuermann, Uta; Schuster, Volker; Seidel, Markus G; Speckmann, Carsten; Stepensky, Polina; Sykora, Karl-Walter; Tesi, Bianca; Vraetz, Thomas; Waruiru, Catherine; Bryceson, Yenan T; Moshous, Despina; Lehmberg, Kai; Jordan, Michael B; Ehl, Stephan

    2015-07-01

    Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. These patients include those with primary immunodeficiencies, in whom the pathogenesis of the inflammatory syndrome may be distinctive and aggressive immunosuppression is contraindicated. To better characterize hemophagocytic inflammation associated with immunodeficiencies, we combined an international survey with a literature search and identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis. Twelve patients had severe combined immunodeficiency with immunodeficiencies; (ii) this syndrome can develop despite severe deficiency of T and NK cells, implying that the pathophysiology is distinct and not appropriately described as "lympho"-histiocytosis in these patients; and (iii) current criteria for hemophagocytoc lymphohistiocytosis are insufficient to differentiate hemophagocytic inflammatory syndromes with different pathogeneses. This is important because of implications for therapy, in particular for protocols targeting T cells. Copyright© Ferrata Storti Foundation.

  3. Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome.

    Science.gov (United States)

    Al-Idrissi, Eman; ElGhazali, Geyhad; Alzahrani, Mofarah; Ménasché, Gaël; Pachlopnik Schmid, Jana; Basile, Geneviève de Saint

    2010-08-01

    A preterm neonate, born to consanguineous parents, presented with respiratory distress, intracerebral hemorrhage, and a silvery-gray sheen of the hair and eyelashes. Griscelli syndrome (GS) type 3 was diagnosed after the detection of a novel homozygous mutation of the melanophilin gene. Thus, only the hypopigmentation, but not the patient's other clinical features, were attributable to this form of GS. Differential diagnosis of the various forms of GS must be performed as early as possible as GS2 is associated with a life threatening but curable immune disorder.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21

    Directory of Open Access Journals (Sweden)

    Julian Kamhieh-Milz

    2014-01-01

    Full Text Available Objectives. Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs. We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis of chromosomal aneuploidies. In this proof-of-concept study, we report on the identification of extracellular miRNAs in maternal plasma of Down syndrome (DS pregnancies. Methods. Using high-throughput quantitative PCR (HT-qPCR, 1043 miRNAs were investigated in maternal plasma via comparison of seven DS pregnancies with age and fetal sex matched controls. Results. Six hundred and ninety-five miRNAs were identified. Thirty-six significantly differentially expressed mature miRNAs were identified as potential biomarkers. Hierarchical cluster analysis of these miRNAs resulted in the clear discrimination of DS from euploid pregnancies. Gene targets of the differentially expressed miRNAs were enriched in signaling pathways such as mucin type-O-glycans, ECM-receptor interactions, TGF-beta, and endocytosis, which have been previously associated with DS. Conclusions. miRNAs are promising and stable biomarkers for a broad range of diseases and may allow a reliable, cost-efficient diagnostic tool for the noninvasive prenatal diagnosis of DS.

  10. Atypical presentation of CLIPPERS syndrome: a new entity in the differential diagnosis of central nervous system rheumatologic diseases.

    Science.gov (United States)

    Gul, Maryam; Chaudhry, Ammar A; Chaudhry, Abbas A; Sheikh, Mubashir A; Carsons, Steven

    2015-04-01

    Numerous autoimmune diseases can affect the central nervous system (CNS), and variable clinical presentations confound the differential diagnosis. The challenging task of properly characterizing various CNS autoimmune diseases enables patients to be rapidly triaged and appropriately treated. In this review article, we aim to explore different CNS manifestations of rheumatologic diseases with emphasis on the utility of imaging and cerebrospinal fluid findings. We review the classic physical examination findings, characteristic imaging features, cerebrospinal fluid results, and serum biomarkers. In addition, we also present a unique case of newly described autoimmune entity CLIPPERS syndrome. Our case is unique in that this is the first case which demonstrates involvement of the supratentorial perivascular spaces in addition to the classic infratentorial involvement as initially described by Pittock et al (Brain. 2010;133:2626-2634).

  11. 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.

  12. 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.

  13. [Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography].

    Science.gov (United States)

    Hellmeyer, L; Herz, K; Maslovar, S; Liedke, B; Laux, R; Hackelöer, B J

    2013-02-01

    Foetal megacystis (incidence 1:1 500) occurring in the first trimester may already be a sign of congenital malformation. Often, urethral valves are causally responsible in male foetuses far more frequently than urethral atresia. As a further differential diagnosis, the "prune-belly syndrome" needs to be distinguished. Far more difficult to classify prenatally is the rare MMIHS which, in contrast to the diagnosis of urethral valves, is associated with an unfavourable prognosis. This is a report on a 28-year-old IG/0P, whose foetus of 26+4 gestational weeks was found on ultrasonography for the first time to have a megacystis of 48 mm diameter and bilateral hydronephrosis. The female foetus was surrounded by a normal amount of amniotic fluid which, during the further course of the pregnancy, developed into polyhydramnios. The serial puncture of the urinary bladder showed a normal karyotype and no impairment of the renal concentrating capacity or of protein loss. By reason of an immense enlargement of the abdomen due to the 100 mm large urinary bladder, a Caesarean section was conducted at 36+0 gestational weeks. A catheter could be inserted into the urinary bladder postpartum easily. However, nourishment was not possible and after radiological examination, MMIHS was diagnosed. In the case of a foetal megacystis detected by ultrasonography, especially associated with polyhydramnios and female gender, the rare MMIHS, which is infaust, should be taken into consideration. © Georg Thieme Verlag KG Stuttgart · New York.

  14. Differential diagnosis of unpleasant sensations in the legs: prevalence of restless legs syndrome in a primary care population.

    Science.gov (United States)

    Möller, Caroline; Wetter, Thomas C; Köster, Jürgen; Stiasny-Kolster, Karin

    2010-02-01

    Restless legs syndrome (RLS) is a common neurological condition. We investigated the prevalence of RLS in patients suffering from unpleasant sensations in the legs. We included 16,543 patients consulting one of 312 primary care practices in Germany on November 8, 2007. All patients filled out a self-assessment questionnaire. Patients who reported suffering from unpleasant sensations in the legs were then assessed by the physician. Main outcome measures were the overall prevalence of unpleasant sensations in the legs and the prevalence of RLS; the most common differential diagnoses in the subpopulation suffered from unpleasant leg sensations. Out of all participating patients 7704 (46.6%) suffered from unpleasant sensations in the legs and 1758 (10.6%) were diagnosed with RLS according to the four essential clinical criteria. Among patients with unpleasant leg sensations, the prevalence of RLS was considerably higher (22.7%) than in the total population. The most common differential diagnoses were osteoarthritis (21.5%), disc lesion (19.2%), varicose veins (18.8%) and muscle cramps (14.6%). Of the patients with RLS 53.4% had already consulted their physician about their leg problems in the past. Still, only 20.1% of the RLS patients had received the correct diagnosis. Comorbidity rates were significantly increased in RLS patients compared to patients suffering from leg symptoms of other origin. This study showed a high prevalence of RLS in primary care patients with unpleasant sensations in the legs. Thus, in patients presenting with these symptoms the diagnosis of RLS should routinely be considered. 2009 Elsevier B.V. All rights reserved.

  15. 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.

  16. A Differential Diagnosis of Haematuria following a Motor Vehicle Collision: Nutcracker Syndrome.

    Science.gov (United States)

    Sharp, Gary; Glenn, Derek

    2015-01-01

    A young female presented to the emergency department following a motor vehicle collision. She complained of left flank pain and was found to have haematuria. After investigation no trauma related injuries were identified. However, an incidental finding of nutcracker phenomenon/syndrome was made. Nutcracker phenomenon is a rare cause of haematuria resulting from nontraumatic compression of the left renal vein between the superior mesenteric artery and the aorta. It affects females more than males and its presentation can range from asymptomatic to debilitating haematuria, pelvic congestion in females, varicosities in males, and pain. No validated diagnostic criteria exist and treatment is usually surgical in those with debilitating symptoms or refractory anaemia.

  17. 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.

  18. A Differential Diagnosis of Haematuria following a Motor Vehicle Collision: Nutcracker Syndrome

    Directory of Open Access Journals (Sweden)

    Gary Sharp

    2015-01-01

    Full Text Available A young female presented to the emergency department following a motor vehicle collision. She complained of left flank pain and was found to have haematuria. After investigation no trauma related injuries were identified. However, an incidental finding of nutcracker phenomenon/syndrome was made. Nutcracker phenomenon is a rare cause of haematuria resulting from nontraumatic compression of the left renal vein between the superior mesenteric artery and the aorta. It affects females more than males and its presentation can range from asymptomatic to debilitating haematuria, pelvic congestion in females, varicosities in males, and pain. No validated diagnostic criteria exist and treatment is usually surgical in those with debilitating symptoms or refractory anaemia.

  19. [Malignant hyperthermia syndrome in the intensive care unit : Differential diagnosis and acute measures].

    Science.gov (United States)

    Grander, W

    2016-06-01

    Malignant hyperthermia is a life-threatening disease caused by derangement of the autonomic nerve system and hypermetabolism of the peripheral musculature. Commonly body core temperatures of more than 40 °C will be found in this disease which is caused mostly by psychopharmacological drugs like antidepressants, neuroleptics but also antibiotics, pain killers, anti-Parkinson drugs, and volatile anesthetics. The inducers of malignant hyperthermia interact with postsynaptic receptors (serotonin, anticholinergics) or muscular intracellular structures responsible for calcium utilization (volatile anesthetics, succinylcholine). Rarely malignant hyperthermia is a consequence of mental stress or vigorous exercise and or heat. Malignant hyperthermic syndromes lead to a severe dysbalance of the autonomic nerve system accompanied by rhabdomyolysis, disseminated intravascular coagulopathy, and finally multi-organ failure. Accordingly, medical management is primarily directed to stabilize vital functions, withdrawal of the causing drug, and if possible antagonizing toxic substances. The leading symptom hyperthermia needs to be treated physically with available cooling systems.

  20. 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.

  1. 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

  2. [Differential diagnoses of West syndrome].

    Science.gov (United States)

    Fejerman, Natalio

    2013-09-06

    This study describes the clinical and electroencephalographic characteristics of epileptic spasms, and more especially those that occur during the first two years of life (infantile spasms). West syndrome has been clearly defined as the association between infantile spasms with an electroencephalographic pattern of hypsarrhythmia. Although intellectual deficit appears in almost all cases in which infantile spasms are not controlled with medication, this is a developmental aspect of the condition and not a manifestation that must necessarily be present in order to define the syndrome. The analysis of the interictal and ictal electroencephalogram readings, together with the clinical characteristics of the spasms and the neurological examination of patients, provides some orientation as regards the causations. Despite the spectrum that the title of this work focuses on, the study does not cover the treatment of early infants with West syndrome. Emphasis is placed on the differential diagnoses of West syndrome with other epileptic syndromes that manifest in the first two years of life, and more especially with a series of abnormal non-epileptic motor phenomena that occur in early infants. All these last non-epileptic disorders are displayed in a table, but benign myoclonus of early infancy or Fejerman syndrome is given as a paradigmatic example for the differential diagnosis. The primordial aim is to prevent neurologically healthy early infants from receiving antiepileptic drugs and even adrenocorticotropic hormone or corticoids due to a mistaken diagnosis.

  3. 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...

  4. Differential diagnosis of neuropathic pain

    Directory of Open Access Journals (Sweden)

    Yu. N. Bykov

    2015-01-01

    Full Text Available Neuropathic pain is an acute or chronic pain caused by damage to or dysfunction of the peripheral and/or central nervous system. Neuropathic pain is a direct sequel of damage to or disease of the somatosensory nervous system. The paper presents the definition, international diagnostic criteria, clinical and diagnostic features, and causes of neuropathic pain syndrome, differences between nociceptive and neuropathic pain, the classification of major neuropathic pain syndromes, and the DN4 questionnaire to identify neuropathic pain. It shows a substantial clinical and pathophysiological similarity of neuropathic pain and fibromyalgia and gives preliminary diagnostic criteria for fibromyalgia. The differential diagnosis of neuropathic, nociceptive, and psychogenic pain and the determination of the level of damage to the nervous system and a leading pathogenetic mechanism of neuropathic pain syndrome require not only meticulous clinical examination of the sensory sphere, but also neurophysiological examination including electroneuromyography, somatosensory evoked potential recording, quantitative sensory testing, and, in a number of cases, neuroimaging (magnetic resonance imaging or morphological (intraepidermal nerve fiber density examination verification of injury somatosensory afferents. 

  5. Takotsubo cardiomyopathy associated with Guillain-Barré syndrome: a differential diagnosis from dysautonomia not to be missed.

    Science.gov (United States)

    Martins, Raphaël Pedro; Barbarot, Nicolas; Coquerel, Nicolas; Baruteau, Alban-Elouen; Kolev, Ivan; Vérin, Marc

    2010-04-15

    A 60-year-old woman presented with a 1-week progressive limb weakness and an areflexic tetraparesis. Both neurophysiological and cerebrospinal fluid examinations were consistent with diagnosis of Guillain-Barré syndrome (GBS) and a treatment by intravenous immunoglobulin over a 5-day period was started. At the end of the treatment, the patient suffered from an acute coronary syndrome (ACS) without stenosis at coronary arteriography. Left ventriculography showed segmental wall motion abnormalities with apical akinesis contrasting with hyperkinesis in basal segments, with a depressed left ventricular ejection fraction at 45%. Cardiac magnetic resonance imaging excluded the diagnosis of myocarditis. A diagnosis of "transient left ventricular apical ballooning syndrome" or "Takotsubo" syndrome was then made and a treatment by angiotensin-converting enzyme inhibitor and beta-blocker was introduced. Left ventricular dysfunction and electrocardiogram normalized within two weeks and the patient remained free from cardiovascular events at one year of follow-up. This cardiomyopathy is a recently known and now commonly diagnosed reversible systolic dysfunction mimicking ACS and is secondary to physical or emotional stress affecting mainly post-menopausal women. Electrocardiographic and echocardiographic abnormalities are often regressive in days or weeks, and rarely responsible for complications. This observation supports clinical evidence that electrocardiographic changes in GBS can be linked to Takotsubo syndrome, by means of the stressful trigger of GBS occurrence. This reversible cardiomyopathy needs adequate management and specific therapeutic strategies. Therefore, trans-thoracic echocardiography should be systematically performed when repolarisation abnormalities are present in this disease to rule out a Takotsubo syndrome, even in asymptomatic patients. Copyright 2010 Elsevier B.V. All rights reserved.

  6. Cervicogenic headache: Differential diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Aleksey Nikolayevich Barinov

    2012-01-01

    Full Text Available The paper discusses the issues of differential diagnosis of cervicocranialgia with tension headache and migraine with concomitant cervical myofascial syndrome. It considers the basic mechanisms of the pathogenesis of these nosological entities and common approaches to their treatment. The mechanisms of pathogenetic action of myorelaxants are shown in cervicocranialgia and myofascial pain syndromes. Methods for mini-invasive therapy for cervicogenic headache and other musculoskeletal disorders are presented.

  7. DIFFERENTIAL DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2017-01-01

    Full Text Available Hypertrophic cardiomyopathy is the most common form of cardiomyopathy, occurring in childhood, occurring when a gene is mutated that encodes proteins of sarcomeric and non-sarcomeric complexes. The diagnosis of the disease is based on the data of echocardiography, revealing structural changes in the heart muscle according to the type of hypertrophy, while the genesis of these changes remains unclear. The causes of hypertrophic cardiomyopathy in childhood are diverse. Of great importance is the early diagnosis of metabolic forms of hypertrophic cardiomyopathy, so in some cases regress of hypertrophy is possible against the background of enzyme-substitution or other drug therapy. The article presents a clinical (cardiac and extracardiac symptoms and laboratory markers of hypertrophic cardiomyopathy with mutations of genes of proteins of the sarcomeric complex, congenital metabolic disorders (glycogenoses, lysosomal pathology, fatty acid metabolism disorders, and mitochondrial diseases, genetic syndromes (Noonan, LEOPARD, Costello, cardio-fascial-cutaneous, neuromuscular diseases. The criteria for differential diagnosis of genetic forms of hypertrophic cardiomyopathy and myocardial hypertrophy in athletes are presented. 

  8. 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.

  9. 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

  10. 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.

  11. Diagnosis of Carpal Tunnel Syndrome

    Science.gov (United States)

    Keith, Michael Warren; Masear, Victoria; Chung, Kevin; Maupin, Kent; Andary, Michael; Amadio, Peter C.; Barth, Richard W.; Watters, William C.; Goldberg, Michael J.; Haralson, Robert H.; Turkelson, Charles M.; Wies, Janet L.

    2016-01-01

    This clinical practice guideline was created to improve patient care by outlining the appropriate information-gathering and decision-making processes involved in managing the diagnosis of carpal tunnel syndrome. The methods used to develop this clinical practice guideline were designed to combat bias, enhance transparency, and promote reproducibility. The guideline’s recommendations are as follows: The physician should obtain an accurate patient history. The physician should perform a physical examination of the patient that may include personal characteristics as well as performing a sensory examination, manual muscle testing of the upper extremity, and provocative and/or discriminatory tests for alternative diagnoses. The physician may obtain electrodiagnostic tests to differentiate among diagnoses. This may be done in the presence of thenar atrophy and/or persistent numbness. The physician should obtain electrodiagnostic tests when clinical and/or provocative tests are positive and surgical management is being considered. If the physician orders electrodiagnostic tests, the testing protocol should follow the American Academy of Neurology/American Association of Neuromuscular and Electrodiagnostic Medicine/American Academy of Physical Medicine and Rehabilitation guidelines for diagnosis of carpal tunnel syndrome. In addition, the physician should not routinely evaluate patients suspected of having carpal tunnel syndrome with new technology, such as magnetic resonance imaging, computed tomography, and pressure-specified sensorimotor devices in the wrist and hand. This decision was based on an additional nonsystematic literature review following the face-to-face meeting of the work group. PMID:19474448

  12. 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.

  13. Evaluation of usefulness of myeloperoxidase index (MPXI) for differential diagnosis of systemic inflammatory response syndrome (SIRS) in the emergency department.

    Science.gov (United States)

    Cha, Yong Sung; Yoon, Jeong Min; Jung, Woo Jin; Kim, Yong Won; Kim, Tae Hoon; Kim, Oh Hyun; Cha, Kyoung Chul; Kim, Hyun; Hwang, Sung Oh; Lee, Kang Hyun

    2015-04-01

    The myeloperoxidase index (MPXI) is elevated in infection. We ascertained whether MPXI might be useful in differentiation of sepsis versus non-infectious systemic inflammatory response syndrome (SIRS) in emergency department (ED). After exclusion of patients with an age of SIRS (sepsis: 224, 50.3%; and non-infectious SIRS: 220, 49.7%) diagnosed and treated at the ED of The Wonju Severance Christian Hospital from May 2012 to June 2012 were retrospectively reviewed. Median MPXI was higher in sepsis versus non-infectious SIRS (0.1 (IQR: -3.1 to 2.5) vs -1.2 (-4.1 to 1.6), respectively, p=0.020). Median white cell count, neutrophil percentage, C reactive protein level and δ neutrophil index were also higher. However, MPXI resulted as not statistically useful for differential diagnostic parameter in analysis. MPXI is higher in sepsis than in non-infectious SIRS. However, there is currently no evidence that the MPXI adds any additional benefit to differentiate sepsis from non-infectious SIRS in the ED. Therefore, further study will be needed. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  14. 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

  15. [Differential diagnosis of proteinuria].

    Science.gov (United States)

    Rupprecht, H D

    2004-10-21

    Normally, protein secretion in the urine is less than 150 mg/day or less than 100 mg/g creatinine. Orthostatic proteinuria, proteinuria in the presence of fever, and effort proteinuria are benign forms. In cases of persistent proteinuria, prerenal or overflow proteinuria are distinguished from renal and post-renal proteinuria. Renal forms can be differentiated into glomerular and tubular as well as mixed forms. The urine dipstick is of only low sensitivity, and is therefore unsuitable as a screening test for diabetic microalbuminuria. In addition, it cannot detect immunoglobulin light chains in Bence Jones proteinuria. For the differentiation between glomerular and tubular forms of proteinuria, the determination of marker proteins in the urine, for example, alpha1 microglobulin, albumin and IgG, has proven utility.

  16. Neurofibromatoses: part 1 ? diagnosis and differential diagnosis

    Directory of Open Access Journals (Sweden)

    Luiz Oswaldo Carneiro Rodrigues

    2014-03-01

    Full Text Available Neurofibromatoses (NF are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1, neurofibromatosis type 2 (NF2 and schwannomatosis (SCH, which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

  17. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... Groups Hear From the Experts Follow us on Facebook! Alport Syndrome Foundation of USA 2 days ago ... BIRTHDAY! ... See More See Less Photo View on Facebook · Share View on Facebook The Alport syndrome Foundation ...

  18. Differential diagnosis of chronic cough in children.

    Science.gov (United States)

    Weinberger, Miles; Fischer, Anthony

    2014-01-01

    A cough is considered chronic when it lasts >4 weeks. Chronic cough can be from a variety of causes. This article provides a structured approach to evaluating the child with chronic cough. Beginning with the disturbing cough that is absent once asleep, consistent with the habit cough syndrome, the diagnostic criteria for 10 causes of chronic cough are discussed. Using a structured approach to the differential diagnosis, common and uncommon causes can be identified. Well-established causes of chronic cough, such as asthma, are likely to be well known to the reader, whereas more recently identified etiologies, such as protracted bacterial bronchitis, are presented in more detail. The differential value of flexible and rigid bronchoscopy and bronchoalveolar lavage for aiding in the differential diagnosis is included for those entities where their use is essential.

  19. 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.

  20. Prenatal Diagnosis of WAGR Syndrome

    Directory of Open Access Journals (Sweden)

    Berrin Tezcan

    2015-01-01

    Full Text Available Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

  1. First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2012-12-01

    Conclusion: Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib–polydactyly syndrome, Bardet–Biedl syndrome, orofaciodigital syndrome, Smith–Lemli–Opitz syndrome, and hydrolethalus syndrome.

  2. [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.

  3. Ischemia-modified albumin in differential diagnosis of acute coronary syndrome without ST elevation and unstable angina pectoris.

    Science.gov (United States)

    Wudkowska, Anna; Goch, Jan; Goch, Aleksander

    2010-04-01

    Ischemia modified albumin (IMA) was registered by the United States Food and Drug Administration as a marker of myocardial ischemia. To assess the usefulness of IMA measurement for differentiating patients with acute coronary syndrome (ACS) with no ST elevation and patients with unstable angina pectoris. The study group consisted of 121 patients (mean age 63 +/- 12 years, 84 males), who were admitted to our department with retrosternal chest pain occurring at rest and lasting more than 20 minutes. The patients had laboratory tests performed including aspartate aminotransferase, izoenzyme of creatine kinase activity, troponin T, N-terminal pro-brain natriuretic peptide (NT-proBNP), C-reactive protein, IMA concentration and creatinine clearance. Coronary angiography was also performed. All study patients were divided into 2 groups: group I with elevated troponin concentration (58 patients) and group II with troponin concentration below reference value (63 patients). The IMA concentration in the serum did not differ significantly between group I (troponin positive) and group II (troponin negative) (95.2 +/- 12.8 U/mL vs 94.0 +/- 17.9 U/mL, NS). The percentage of patients with elevated IMA values (cut off point of 85 U/mL) did not differ significantly between group I and group II patients (76.6% vs 76.2%, NS). In patients from group I an upward trend was noted, whereas in patients from group II a downward trend was associated with the duration of ischemic chest pain. In group I the correlation between the IMA concentration and the NT-proBNP concentration was positive (R = 0.2957; p unstable angina. 2. The upward trend of IMA concentration was associated with the duration of chest pain in patients with ACS, whereas the opposite trend was found in patients with unstable angina pectoris.

  4. 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.

  5. Diagnosis of cracked tooth syndrome

    Directory of Open Access Journals (Sweden)

    Sebeena Mathew

    2012-01-01

    Full Text Available The incidences of cracks in teeth seem to have increased during the past decade. Dental practitioners need to be aware of cracked tooth syndrome (CTS in order to be successful at diagnosing CTS. Early diagnosis has been linked with successful restorative management and predictably good prognosis. The purpose of this article is to highlight factors that contribute to detecting cracked teeth.

  6. Diagnosis of cracked tooth syndrome.

    Science.gov (United States)

    Mathew, Sebeena; Thangavel, Boopathi; Mathew, Chalakuzhiyil Abraham; Kailasam, Sivakumar; Kumaravadivel, Karthick; Das, Arjun

    2012-08-01

    The incidences of cracks in teeth seem to have increased during the past decade. Dental practitioners need to be aware of cracked tooth syndrome (CTS) in order to be successful at diagnosing CTS. Early diagnosis has been linked with successful restorative management and predictably good prognosis. The purpose of this article is to highlight factors that contribute to detecting cracked teeth.

  7. Diagnosis of cracked tooth syndrome

    OpenAIRE

    Mathew, Sebeena; Thangavel, Boopathi; Mathew, Chalakuzhiyil Abraham; Kailasam, SivaKumar; Kumaravadivel, Karthick; Das, Arjun

    2012-01-01

    The incidences of cracks in teeth seem to have increased during the past decade. Dental practitioners need to be aware of cracked tooth syndrome (CTS) in order to be successful at diagnosing CTS. Early diagnosis has been linked with successful restorative management and predictably good prognosis. The purpose of this article is to highlight factors that contribute to detecting cracked teeth.

  8. 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

    to inter-rater agreement in 30 patients with neurodegenerative parkinsonian syndromes (PS) confirmed by FP-CIT SPECT. Methods: IBZM SPECT and FDG PET were categorized as PD or APS by visual inspection of standardized report pages and statistical parametric maps (SPMs). Categorization was performed...

  9. 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)

  10. Differential diagnosis of sacral lesions

    International Nuclear Information System (INIS)

    Mesgarzadeh, M.; Rodman, M.S.; Bonakdarpour, A.; Mahboubi, S.

    1987-01-01

    The authors reviewed the teaching files of Temple University Hospital and Children's Hospital of Philadelphia and selected the best representative cases of various lesions of the sacrum. They selected the following lesions: metastasis, chondrosarcoma, chrodoma, plasmacytoma, giant cell tumor, osteogenic sarcoma, Ewing sarcoma, neuroblastoma, neurofibrosarcoma, hemangiopericytoma, osteoblastoma, ossifying fibroma, eosinophilic granuloma, aneurysmal bone cyst, sacrococcygeal teratoma, anterior meningocele, endodermal sinus tumor, and stress fracture. The authors illustrate, for each lesion, the likely age range, sights of predilection, likelihood of occurrence in the sacrum, and radiographic findings helpful in limiting the differential diagnosis. They demonstrate the value of bone scintigraphy in detecting, and CT in confirming, stress fractures of the sacrum

  11. 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

  12. 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.

  13. 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.

  14. 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.

  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. 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

  17. 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.

  18. Diagnosis of Carpal Tunnel Syndrome

    OpenAIRE

    Keith, Michael Warren; Masear, Victoria; Chung, Kevin; Maupin, Kent; Andary, Michael; Amadio, Peter C.; Barth, Richard W.; Watters, William C.; Goldberg, Michael J.; Haralson, Robert H.; Turkelson, Charles M.; Wies, Janet L.

    2009-01-01

    This clinical practice guideline was created to improve patient care by outlining the appropriate information-gathering and decision-making processes involved in managing the diagnosis of carpal tunnel syndrome. The methods used to develop this clinical practice guideline were designed to combat bias, enhance transparency, and promote reproducibility. The guideline’s recommendations are as follows: The physician should obtain an accurate patient history. The physician should perform a physica...

  19. [Asperger syndrome - a fashionable diagnosis?].

    Science.gov (United States)

    Haker, Helene

    2014-10-01

    The Asperger Syndrome is - in contrast to early childhood autism - a disorder at the lighter end of the autism spectrum. Although first described in 1943, it was included in the ICD-10 not before 1992. The knowledge about this lighter autistic disorder spread only slowly. The increasing prevalence rates can be explained by the increased knowledge about this disorder and the growing clinical experience. In contrast to the public that gives repeated medial attention to it, and to would-be affected who seem to see an attractive excuse for social problems in an Asperger diagnosis, many psychiatrists appear cautious to state a diagnosis with which they are not familiar and which is discredited as a fashionable diagnosis.

  20. [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.

  1. Late Diagnosis of Fanconi-Bickel Syndrome

    Directory of Open Access Journals (Sweden)

    Nirupama Gupta MD

    2016-11-01

    Full Text Available Fanconi-Bickel syndrome (FBS, also known as glycogen storage disease type XI (GSD XI, is a rare autosomal recessive disorder of carbohydrate metabolism. It is caused by mutations in the gene SLC2A2 , which encodes for the facilitative glucose transporter GLUT2. Diagnosis of FBS is often delayed since the clinical features and laboratory markers often overlap with other disorders whose characteristic features include short stature, fasting hypoglycemia, postprandial hyperglycemia, hepatomegaly, hypophosphatemic rickets, and proximal renal tubular dysfunction. In this article, we present a case of FBS and its management in an African American female who initially presented with persistent proximal tubulopathy, hypercalciuria, and metabolic acidosis. We also include a recent literature review on FBS and discuss other metabolic disorders that should be considered in the differential diagnosis.

  2. Differential Diagnosis of Narrow QRS Tachycardia

    Directory of Open Access Journals (Sweden)

    Syamkumar Menon

    2017-04-01

    Full Text Available Differential diagnosis of short RP tachycardia include atrioventricualr nodal re entrant tachycardia, atrio ventricular re entrant tachycardia and less commonly atrial tachycardia with a long PR interval. Analysis of retrograde P waves in different leads is helpful in the differential diagnosis, with certain limitations.

  3. Lymphangioleiomyomatosis: differential diagnosis and optimal management

    Directory of Open Access Journals (Sweden)

    Xu KF

    2014-08-01

    Full Text Available Kai-Feng Xu,1 Bee Hong Lo2 1Department of Respiratory Medicine, Peking Union Medical College Hospital, Beijing, People's Republic of China; 2Developmental Pediatrician, PECAT, Children's Hospital Westmead, Sydney, NSW, Australia Abstract: Lymphangioleiomyomatosis (LAM is an uncommon disease presented as diffuse thin-walled cystic changes in the lung. The main differential diagnoses include pulmonary Langerhans' histiocytosis (PLCH, Birt-Hogg-Dubé syndrome (BHD, lymphoid interstitial pneumonia (LIP, and amyloidosis. A combination of clinical, radiological, and pathological approaches as well as genetic testing will clarify the diagnosis in most cases. LAM is a disease almost exclusively in women. Dyspnea, pneumothorax, and hemoptysis are common presentations in LAM patients. LAM is also a lymphatic disorder affecting lymphatic vessels and lymph nodes. Chylothorax, chylous ascites, and lymphangiomyomas are frequently seen. LAM can present sporadically as a single entity or as part of tuberous sclerosis complex (TSC. Angiomyolipoma (AML is a characteristic extra-pulmonary lesion, either found in association with sporadic or TSC-related LAM. High-risk populations should be screened for LAM, including adult women with TSC and female patients with spontaneous pneumothorax, AMLs in the kidney, and diffuse cystic lung diseases. Definitive diagnosis of LAM is based on a high level of clinical suspicion on presentation supported by pathological findings or by a distinct feature, such as a history of TSC, AMLs in the kidney, chylothorax, or chylous ascites. Vascular endothelial growth factor-D (VEGF-D in serum is a noninvasive and reliable diagnostic biomarker. In experienced centers, trans-bronchial lung biopsy (TBLB provides a convenient and safe way to obtain lung specimens for diagnostic purposes. An effective treatment for LAM is now available, namely using a mechanistic target of rapamycin (mTOR inhibitor such as sirolimus. Efficacy of sirolimus has

  4. 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.

  5. [Diagnosis, clinical course, and differential diagnosis of schizophrenia].

    Science.gov (United States)

    Hori, Hikaru; Nakamura, Jun

    2013-04-01

    Schizophrenia is a disease whose symptoms are shown to a little less than 1% at adolescence. Since the morbidity elucidation is not yet made many of psychiatry diseases including schizophrenia, a useful biological marker or image inspection, and a physiological inspection are not in diagnosis. About diagnosis of a psychiatric disorder, the symptoms study diagnostic method never must be used. Then, diagnosis needs to be made appropriately and carefully and differential diagnosis must also perform it exactly. It is because medical treatment may differ depending on diagnosis. If this is not made appropriately, it may lead to medication of an unnecessary and aimless antipsychotic. In this paper, diagnosis and differential diagnosis of schizophrenia, and clinical course were summarized.

  6. 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.)

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

    Directory of Open Access Journals (Sweden)

    Enrico Bellato

    2012-01-01

    Full Text Available 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.

  8. 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

  9. 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.

  10. Histopathological and immunophenotypical criteria for the diagnosis of Sézary syndrome in differentiation from other erythrodermic skin diseases: a European Organisation for Research and Treatment of Cancer (EORTC) Cutaneous Lymphoma Task Force Study of 97 cases.

    Science.gov (United States)

    Klemke, C D; Booken, N; Weiss, C; Nicolay, J P; Goerdt, S; Felcht, M; Géraud, C; Kempf, W; Assaf, C; Ortonne, N; Battistella, M; Bagot, M; Knobler, R; Quaglino, P; Arheiliger, B; Santucci, M; Jansen, P; Vermeer, M H; Willemze, R

    2015-07-01

    Patients with erythrodermic disease are a diagnostic challenge regarding the clinical and histological differential diagnosis. To evaluate histopathological and immunohistochemical diagnostic markers for Sézary syndrome. Ninety-seven erythrodermic cases [Sézary syndrome (SS), n = 57; erythrodermic inflammatory dermatoses (EIDs), n = 40] were collected by the EORTC Cutaneous Lymphoma Task Force histopathology group. Evaluation criteria were (i) epidermal and dermal changes; (ii) morphology of the infiltrate; (iii) immunohistochemical analysis of marker loss (CD2, CD3, CD4, CD5 and CD7); (iv) bystander infiltrate by staining for CD8, FOXP3 and CD25; and (v) expression of Ki-67, CD30, PD-1 and MUM-1. The workshop panel made a correct diagnosis of SS in 51% of cases (cutaneous T-cell lymphoma 81%) and of EID in 80% without clinical or laboratory data. Histology revealed a significantly increased degree of epidermotropism (P skin samples was found significantly to express PD-1 (P = 0.0053), MUM-1 (P = 0.0017) and Ki-67 (P multivariate analysis identified CD7 loss, increased numbers of small cerebriform lymphocytes, low numbers of CD8(+) lymphocytes and increased proliferation (Ki-67(+) lymphocytes) as the strongest indicators for the diagnosis of SS. A number of different histological and immunophenotypical criteria are required to differentiate between SS and EIDs. © 2015 British Association of Dermatologists.

  11. Pitfalls in the diagnosis of Cushing's syndrome.

    Science.gov (United States)

    Vilar, Lucio; Freitas, Maria da Conceição; Faria, Manuel; Montenegro, Renan; Casulari, Luiz Augusto; Naves, Luciana; Bruno, Oscar D

    2007-11-01

    Among endocrine disorders, Cushing's syndrome (CS) is certainly one of the most challenging to endocrinologists due to the difficulties that often appear during investigation. The diagnosis of CS involves two steps: confirmation of hypercortisolism and determination of its etiology. Biochemical confirmation of the hypercortisolaemic state must be established before any attempt at differential diagnosis. Failure to do so will result in misdiagnosis, inappropriate treatment, and poor management. It should also be kept in mind that hypercortisolism may occur in some patients with depression, alcoholism, anorexia nervosa, generalized resistance to glucocorticoids, and in late pregnancy. Moreover, exogenous or iatrogenic hypercortisolism should always be excluded. The three most useful tests to confirm hypercortisolism are the measurement of 24-h urinary free cortisol levels, low-dose dexamethasone-suppression tests, and determination of midnight serum cortisol or late-night salivary cortisol. However, none of these tests is perfect, each one has different sensitivities and specificities, and several are usually needed to provide a better diagnostic accuracy. The greatest challenge in the investigation of CS involves the differentiation between Cushing's disease and ectopic ACTH syndrome. This task requires the measurement of plasma ACTH levels, non-invasive dynamic tests (high-dose dexamethasone suppression test and stimulation tests with CRH or desmopressin), and imaging studies. None of these tests had 100% specificity and their use in combination is usually necessary. Bilateral inferior petrosal sinus sampling is mainly indicated when non-invasive tests do not allow a diagnostic definition. In the present paper, the most important pitfalls in the investigation of CS are reviewed.

  12. 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

  13. 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.

  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. Imaging findings in 22 cases of Schnitzler syndrome: characteristic para-articular osteosclerosis, and the ''hot knees'' sign differential diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Niederhauser, Blake D. [Department of Radiology, Rochester, MN (United States); Dingli, David; Kyle, Robert A. [Mayo Clinic, Division of Hematology, Rochester, MN (United States); Ringler, Michael D. [Mayo Clinic, Department of Radiology, Rochester, MN (United States)

    2014-07-15

    Schnitzler syndrome is characterized by chronic urticaria, monoclonal gammopathy, and a risk of developing lymphoproliferative disorders. Patients frequently present with bone pain, fever, arthralgia, and lymphadenopathy. The purpose of this study is to retrospectively review and evaluate potentially attributable imaging abnormalities in a series of patients with clinically diagnosed Schnitzler syndrome. Clinical and pathological chart review identified 22 patients meeting Strasbourg criteria for Schnitzler syndrome. Imaging of these patients was retrospectively reviewed by a musculoskeletal radiologist and a radiology fellow to determine and characterize significant ''positive'' findings that could potentially be attributed to their primary disease process. Evidence of abnormal bone remodeling was present in 64 % (14/22) of patients with 40 bone abnormalities. Lesions were predominantly or entirely sclerotic and most commonly involved the distal femora (n = 11), proximal tibiae (nine), and innominate bones (six). Patterns of involvement were variable, but typically eccentrically intramedullary, cortical, and juxta-articular. Skeletal surveys and targeted radiographs identified only 37 % (10/27) of abnormal bones subsequently ''positive'' by additional modalities. PET and bone scans were all positive in patients with bone sclerosis (13/13 and 17/17 bone sites, respectively). Schnitzler syndrome often presents with characteristic osteosclerosis, most commonly around the knees and in the pelvis. In patients with a suggestive clinical history, the radiologist could direct an appropriate imaging strategy or might to be the first to suggest the diagnosis. Bone scan may be the most appropriate initial screening tool in suspected cases. (orig.)

  16. 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. 

  17. 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

  18. 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.

  19. 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.

  20. [Diagnosis and Clinical Examination of Autoinflammatory Syndrome].

    Science.gov (United States)

    Ida, Hiroaki

    2015-05-01

    Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. We diagnosed these syndromes as clinical manifestations and performed genetic screening. Many serum cytokines are elevated in patients with autoinflammatory syndrome, but this is not disease-specific. The pathogeneses of many autoinflammatory syndromes are known to be related to inflammasomes, which are multiprotein complexes that serve as a platform for caspase 1 activation and interleukin-1β (IL-1β) and IL-18 muturation. Especially, NLRP3 inflammasomes may play a crucial role in the intiation and progression of FMF and CAPS. In the future, we hope to discover new clinical examinations which can provide evidence of inflammasome activation independent of genetic screening. In this issue, I introduce autoinflammatory syndromes and discuss the diagnosis and clinical examination of these syndromes.

  1. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Diagnosis

    Science.gov (United States)

    ... Continuing Education Event Resources Disability and ME-CFS Diagnosis Recommend on Facebook Tweet Share Compartir To diagnose myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), a patient’s doctor or healthcare provider ...

  2. Food protein-induced enterocolitis syndrome: pitfalls in the diagnosis.

    Science.gov (United States)

    Guibas, George V; Tsabouri, Sophia; Makris, Michael; Priftis, Kostas N

    2014-11-01

    Food protein-induced enterocolitis syndrome (FPIES) represents the severe end of the spectrum of gastrointestinal food hypersensitivity; its acute episodes can culminate in severe dehydration and hypovolemic shock, and its chronic form entails considerable morbidity associated with feeding difficulty and failure to thrive. Nevertheless, awareness for this syndrome remains rather low. Many factors hamper the establishment of FPIES diagnosis. Such factors pertain to the pathophysiological mechanism of the syndrome, causal food proteins, clinical manifestations, diagnostic procedures, differential diagnosis considerations, and prevailing perceptions which may require critical appraisal. Throughout this review, we will present and discuss these issues and put the focus on factors that could lead to under-diagnosis of FPIES, cause numerous acute episodes, and substantially increase the diseases morbidity and financial burden. We will also address other issues that are clinically relevant to FPIES. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Edwards syndrome: prenatal diagnosis by ultrasound

    International Nuclear Information System (INIS)

    Guedea, A.; Riazuelo, G.; Mota, J.; Canon, R.; Garcia, S.

    1997-01-01

    Edwards syndrome is the second most common trisomy syndrome occurring in 0.3/1,000 births. The prenatal diagnosis of this trisomy may be suspected in the routine ultrasound exam of the pregnancy by means of the recognition of a constellation of findings: fetal structural anomalies, intrauterine growth retardation (CIR) and umbilical cord or amniotic fluid volume abnormalities. The diagnosis is then confirmed by chromosome analysis of either amniotic fluid or fetal blood or tissue. We present six cases of Edwards syndrome suspected by fetal ultrasonography exam, all of them confirmed by karyotype, describing the major sonographic findings. (Author) 15 refs

  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. Intestinal tuberculosis simulating Crohn's disease: Differential diagnosis.

    Science.gov (United States)

    García-Morales, Natalia; García-Campos, María; Cordón, Gisselle; Iborra, Marisa

    2018-03-13

    Tuberculosis is a public health's problema in the world. Its incidence is increasing in our environment due to inmigration and the use of inmunosupressors. It's a systemic disease that can affect rarely the gastrointestinal tract. We should take into account the epidemiological and clinical context of each patient, because the differential diagnosis is broad. It can mimic with other diseases, such as Crohn's disease. We report a case of intestinal tuberculosis, and underline the importance of the differential diagnosis of these patients. Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

  7. 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.

  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

    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

  9. 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

  10. 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.

  11. Generalized anxiety disorder: Differential diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Tatyana Gratsiyevna Voznesenskaya

    2013-01-01

    Full Text Available Generalized anxiety disorder (GAD is poorly diagnosed and inadequately treated by general practitioners. The paper considers the major diagnostic signs of GAD, its differential diagnosis, prevalence, etiology, and pathogenesis. Antidepressants from a group of selective serotonin reuptake inhibitors in combination with psychotherapy are the drugs of first choice.

  12. Pyknodysostosis: Oral findings and differential diagnosis

    Directory of Open Access Journals (Sweden)

    Soares L

    2008-05-01

    Full Text Available Pyknodysostosis is a rare, genetic, autosomal recessive condition characterized by short stature, generalized bone sclerosis, and oral manifestations such as maxillary atresia and an increase of the mandibular angle. The main purpose of this article was to report a case of pyknodysostosis, describing the characteristic orofacial findings of the disease and discussing the differential diagnosis.

  13. 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

  14. 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.

  15. 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.

  16. Mirizzi Syndrome Type IV: A challenging diagnosis

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    Daniel Navarini

    2016-05-01

    Full Text Available Mirizzi Syndrome type IV is an extremely rare condition, which is confused with the diagnosis of cholangiocarcinoma in many cases. This report describes a case of a forty-three-year old patient, who was forwarded to our department of general surgery with a high suspicion of a choledochal neoplasic lesion. During the hospitalization he was diagnosed with Mirizzi Syndrome type IV. We concisely describe the case and the literature review about this pathology.

  17. 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.

  18. 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.

  19. Slipping Rib Syndrome: An elusive diagnosis.

    Science.gov (United States)

    Turcios, Nelson L

    2017-03-01

    Slipping rib syndrome remains rarely recognized and frequently undiagnosed or misdiagnosed. Awareness of this condition may prevent extensive and unnecessary diagnostic evaluation and avoid chronic debilitating pain. Persistent lower chest and/or upper abdomen pain after analgesic treatment may suggest the possibility of this disorder. The diagnosis of this syndrome, is a clinical one, based on history and the hooking maneuver. A few cases have been published in the literature, giving no clear consensus about the treatment of this condition. In this overview article, clinical manifestations, diagnostic approach, and treatment modalities of this syndrome will be discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. 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

  1. [Differential diagnosis of Graves' orbitopathy. Case report].

    Science.gov (United States)

    Erdei, Annamária; Steiber, Zita; Gazdag, Annamária; Bodor, Miklós; Berta, Eszter; Szász, Róbert; Szántó, Antónia; Ujhelyi, Bernadett; Barna, Sándor; Berényi, Ervin; Nagy, V Endre

    2016-02-21

    Graves' orbitopathy is the extrathyroidal manifestation of Graves' disease, which is the most common cause of exophthalmos. As eye symptoms usually coincide with the development of thyrotoxicosis, the diagnosis of the disease is rarely difficult. The aim of the authors was to summarize the differential diagnosis of Graves' orbitopathy based on literature review and presentation of their own four problematic cases on this topic. They conclude that symptoms similar to endocrine orbitopathy are present in other disorders. Endocrinologists need to be aware of these other conditions to avoid treatment failures.

  2. 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.

  3. The differential diagnosis of spastic diplegia.

    Science.gov (United States)

    Huntsman, Richard; Lemire, Edmond; Norton, Jonathon; Dzus, Anne; Blakley, Patricia; Hasal, Simona

    2015-05-01

    Spastic diplegia is the most common form of cerebral palsy worldwide. Many disorders mimic spastic diplegia, which can result in misdiagnosis for the child with resultant negative treatment and family counselling implications. In this paper, the authors provide a brief review of spastic diplegia and the various disorders in the differential diagnosis. We also provide a diagnostic algorithm to assist physicians in making the correct diagnosis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  4. 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)

  5. Differentiated thyroid carcinoma and intestinal polyposis syndromes.

    Science.gov (United States)

    Triggiani, Vincenzo; Angelo Giagulli, Vito; Tafaro, Angela; Resta, Francesco; Sabba, Carlo; Licchelli, Brunella; Guastamacchia, Edoardo

    2012-12-01

    Familial Adenomatous Polyposis, Cowden's Syndrome, and Peutz-Jeghers Syndrome are well known as Intestinal Polyposis Syndromes, inherited conditions characterized by the development of polyps of the gastro-intestinal tract in association with extra-intestinal manifestations, in particular malignant tumors at different sites. Thyroid carcinoma is sometimes a part of the clinical picture of these syndromes. The aim of this paper is to review the literature dealing with the association between differentiated thyroid carcinomas and Intestinal Polyposis Syndromes in order to point out peculiar aspects, providing suggestions for the screening and the management of thyroid tumors in these patients.

  6. DIAGNOSIS DAN TATALAKSANA HEPATOPULMONARY SYNDROME

    Directory of Open Access Journals (Sweden)

    Dwitya Elvira

    2015-05-01

    Full Text Available AbstrakSirosis hepatis dan penyakit hati kronik merupakan penyebab kematian terbanyak di seluruh dunia. Tingginya angka morbiditas dan mortalitas sirosis berhubungan dengan komplikasinya yang bersifat sistemik. Salah satu komplikasi sirosis dapat mengenai paru berupa sindrom hepatopulmonar atau hepatopulmonary syndrome. Hepatopulmonary syndrome (HPS didefinisikan sebagai trias yang terdiri dari kegagalan hati stadium lanjut, hipoksemia arterial serta dilatasi intravaskular pulmonar tanpa disertai penyakit kardiopulmonar. Patogenesis HPS masih belum diketahui pasti, namun diduga terjadi gangguan metabolisme zat vasoaktif paru yang menimbulkan vasodilatasi vaskuler paru. Manifestasi klinis HPS berupa dispneu yang khas dengan tanda kegagalan hati dan hipertensi portal. Modalitas diagnostik HPS adalah radiologi thorax, analisa gas darah, contrast enhanced echocardiography (CEE, nuclear scanning dengan Tc-99m dan angiografi paru. Penatalaksanaan HPS terutama bertujuan menurunkan vasodilatasi intrapulmonar, meningkatkan oksigenasi arterial dan mengurangi keluhan. Deteksi dini terhadap komplikasi sirosis mutlak diperlukan dalam mencegah dan mengurangi angka morbiditas dan mortalitas.Abstract Liver cirrhosis and chronic liver disease are the leading cause of death worldwide. The high morbidity and mortality associated with their systemic complications. One of the complications of cirrhosis is hepatopulmonary syndrome. Hepatopulmonary syndrome (HPS is defined as the triad of advanced-stage liver failure, arterial hypoxemia and pulmonary intravascular dilatation without cardiopulmonary disease. The pathogenesis of HPS is still not known for sure, but suspected metabolic disorder pulmonary vasoactive substances that cause pulmonary vascular vasodilatation. The clinical manifestations of HPS is typical dispneu with signs of liver failure and portal hypertension. HPS diagnostic modalities are radiology thorax, blood gas analysis, contrast enhanced

  7. 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

  8. Suprasellar Ganglioglioma: Expanding the Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Isabella Tondi Resta

    2018-01-01

    Full Text Available This case study describes a young man with symptoms suggestive of the presence of a space-occupying lesion within the cranial cavity. Imaging studies confirmed a lesion in the suprasellar region and surgical intervention to remove the tumor yielded an unexpected diagnosis. Neuroimaging characteristics and histopathology including immunohistochemistry are described. Gangliogliomas are uncommon CNS neoplasms and are most commonly found in the temporal and frontal lobes of young, male adults. They are rarely seen in the suprasellar region and only a handful of cases have been reported to date. The differential diagnoses associated with these suprasellar region lesions can be dependent on the age of the patient and neuroimaging characteristics. The present report highlights the importance of histopathological examination and the need to consider a wide range of diagnostic entities in the differential diagnosis of lesions in this topographic distribution, including rarely encountered tumors such as gangliogliomas.

  9. 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.

  10. Diagnosis and Management of Iridocorneal Endothelial Syndrome

    Directory of Open Access Journals (Sweden)

    Marta Sacchetti

    2015-01-01

    Full Text Available 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.

  11. 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

  12. Rumination syndrome: pathophysiology, diagnosis, and treatment.

    Science.gov (United States)

    Absah, I; Rishi, A; Talley, N J; Katzka, D; Halland, M

    2017-04-01

    Rumination syndrome is a functional gastrointestinal disorder characterized by effortless and repetitive regurgitation of recently ingested food from the stomach to the oral cavity followed by either re-swallowing or spitting. Rumination is thought to occur due to a reversal of the esophagogastric pressure gradient. This is achieved by a coordinated abdominothoracic maneuver consisting of a thoracic suction, crural diaphragm relaxation and an increase in intragastric pressure. Careful history is important in the diagnosis of rumination syndrome; patients often report "vomiting" or "reflux" and the diagnosis can therefore be missed. Objective testing is available with high resolution manometry or gastroduodenal manometry. Increase in intra-gastric pressure followed by regurgitation is the most important characteristic to distinguish rumination from other disorders such as gastroesophageal reflux. The mainstay of the treatment of rumination syndrome is behavioral therapy via diaphragmatic breathing in addition to patient education and reassurance. The purpose of this review was to critically appraise recent key developments in the pathophysiology, diagnosis and therapy for rumination syndrome. A literature search using OVID (Wolters Kluwer Health, New York, NY, USA) to examine the MEDLINE database its inception until May 2016 was performed using the search terms "rumination syndrome," "biofeedback therapy," and "regurgitation." References lists and personal libraries of the authors were used to identify supplemental information. Articles published in English were reviewed in full text. English abstracts were reviewed for all other languages. Priority was given to evidence obtained from randomized controlled trials when possible. © 2016 John Wiley & Sons Ltd.

  13. 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.

  14. 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 ...

  15. Differential diagnosis of anemia in pregnant women

    Directory of Open Access Journals (Sweden)

    T. S. Prokhorenko

    2017-01-01

    Full Text Available The review is dedicated to the diagnostics of hypochromic microcytic anemia among pregnant women with carbohydrate metabolism disorders by means of existing laboratory algorithm of examination. We give some data on the anemic syndrome in women with diabetes mellitus type 1. These data demonstrate an equal occurrence of anemia of chronic disorder and iron-deficiency anemia in this group of patients. Special attention is paid to the role of hepcidin in iron metabolism as well as to the mechanisms of regulation of hepcidin production under normal and pathological conditions. The review cites researches, which demonstrate the effectiveness of hepcidin measurement for differential diagnostics of anemic syndrome. We also touch upon the problem concerning treatment of anemia of chronic disorder.

  16. 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. 

  17. 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.

  18. 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)

  19. [Dehiscence syndromes : Diagnosis and treatment].

    Science.gov (United States)

    Ernst, A; Todt, I; Wagner, J

    2016-11-01

    Dehiscence syndromes of the semicircular canals are a relatively new group of neurotological disorders. They have a variety of symptoms with hearing/balance involvement. Younger patients have clinically relevant symptoms in only about one third of cases. In addition to etiology and pathogenesis, the present paper describes diagnostic and therapeutic possibilities using a patient series of the authors. This nonrandomized prospective study included 52 patients with uni-/bilateral dehiscence syndromes of the superior and/or posterior canal (SCDS/PCDS), diagnosed with high-resolution computed tomography (HR-CT) of the petrous bone. Of 41 patients undergoing surgical therapy for severe symptoms-predominantly vertigo attacks (Meniere-like) and/or falls (Tumarkin crises)-31 received single-sided hearing implants. Of the 41 patients with transmastoid superior and/or posterior canal occlusion, 30 showed a significant improvement of balance in the Dizziness Handicap Inventory (DHI); the dizzy spells ceased. A positive outcome was correlated with the severity of the preoperative disorder; a poor outcome (nonsignificant increase in DHI, recurrent vertigo of various qualities/frequencies) with the comorbidities vestibular migraine, Menière's disease of the contralateral ear, and a dehiscence size exceeding 4 mm. The more severe the vestibular symptoms, the better the outcome of surgical therapy. Auditory symptoms (nonspecific aural fullness, hyperacusis) do not generally respond well to surgical therapy. Cochlear implants have an additional beneficial effect; comorbidities should be considered as (relative) contraindications.

  20. Reprint of-Differential diagnosis: Trepanation.

    Science.gov (United States)

    Verano, John W

    2017-12-01

    Trepanation is the scraping, cutting, or drilling of an opening (or openings) into the neurocranium. World surveys reveal that a number of ancient cultures experimented with cranial surgery, and that in some areas these practices continued into modern times. Archaeological discoveries of possible trepanations continue to be made, often from geographic areas or time periods from which the practice was not previously known. Unfortunately, most of these reports describe single crania with healed defects interpreted as trepanations. When evaluating a possible trepanation in a skull that lacks medical history or comes from an archaeological context where there is no other evidence that such operations were performed, a thorough differential diagnosis is essential. Identification of unhealed trepanations is a relatively straightforward exercise, since tool marks provide direct evidence of surgical intervention. A confident diagnosis is more difficult in healed defects of the skull, where the mechanism that produced an opening may be obscured by bone remodeling. There are many possible causes of defects of the skull vault, including congenital and developmental anomalies, trauma, infection, neoplasm, and taphonomic damage. For this reason, a careful differential diagnosis is essential for identifying surgical intervention and distinguishing it from cranial defects caused by other mechanisms. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Validity and reliability of the Spanish version of the DN4 (Douleur Neuropathique 4 questions questionnaire for differential diagnosis of pain syndromes associated to a neuropathic or somatic component

    Directory of Open Access Journals (Sweden)

    Bouhassira Didier

    2007-12-01

    Full Text Available Abstract Background This study assesses the validity and reliability of the Spanish version of DN4 questionnaire as a tool for differential diagnosis of pain syndromes associated to a neuropathic (NP or somatic component (non-neuropathic pain, NNP. Methods A study was conducted consisting of two phases: cultural adaptation into the Spanish language by means of conceptual equivalence, including forward and backward translations in duplicate and cognitive debriefing, and testing of psychometric properties in patients with NP (peripheral, central and mixed and NNP. The analysis of psychometric properties included reliability (internal consistency, inter-rater agreement and test-retest reliability and validity (ROC curve analysis, agreement with the reference diagnosis and determination of sensitivity, specificity, and positive and negative predictive values in different subsamples according to type of NP. Results A sample of 164 subjects (99 women, 60.4%; age: 60.4 ± 16.0 years, 94 (57.3% with NP (36 with peripheral, 32 with central, and 26 with mixed pain and 70 with NNP was enrolled. The questionnaire was reliable [Cronbach's alpha coefficient: 0.71, inter-rater agreement coefficient: 0.80 (0.71–0.89, and test-retest intra-class correlation coefficient: 0.95 (0.92–0.97] and valid for a cut-off value ≥ 4 points, which was the best value to discriminate between NP and NNP subjects. Discussion This study, representing the first validation of the DN4 questionnaire into another language different than the original, not only supported its high discriminatory value for identification of neuropathic pain, but also provided supplemental psychometric validation (i.e. test-retest reliability, influence of educational level and pain intensity and showed its validity in mixed pain syndromes.

  2. 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.

  3. [Diagnosis and differential diagnosis in psychiatry and the question of situation referred prognostic diagnosis].

    Science.gov (United States)

    Meyendorf, R

    1980-01-01

    To diagnose--in its true meaning--is a search for etiology. The different sides of psychiatric diagnoses in this century do reflect the various attempts of this search. Examples are: Kraepelin's concept of etiological unity (morbus) of a disease, Bonhoeffer's attempt of separating exogenous from endogenous psychoses, K. Schneider's definition of psychiatric illness in terms of medical disease, Kretschmer's and Rümke's multidimensional diagnoses and Essen-Möller's principle of separating (postponing) etiology from psychopathological syndromes. The situationa prognostic diagnosis plays its main role in everyday diagnosing. It presupposes that one can recognize, distinguish and differentiate between different symptoms and diseases. The decision for a specific treatment reveals which etiology one thinks to be the main one. It presupposes that one has constantly to consider the kind, the severity and the course of psychiatric disease, Nosological thinking is necessary. The term etiology has a twofold meaning in Greek. 1. cause = causa and 2. accusation, guilt = culpa. In diagnosing psychiatric illnesses this double aspect plays an important role, though unconsciously and unwillingly. Though somatogenic (metabolic) as well as psychogenic (reactive) etiologies are etiologies in the sense of causa there is a fundamental difference between them. They have a common causa materialis but a different causa efficiens. In the first instance it is the non-personal side (related to pure matter), in the second instance the personal side which makes the difference. Only a person can be responsible. Where responsibility does play a role, there also accusation and guilt play a role.

  4. 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.

  5. [Leber congenital amaurosis: diagnosis, follow-up and differential diagnosis].

    Science.gov (United States)

    Grieshaber, M C; Niemeyer, G

    1998-05-01

    Leber's congenital amaurosis (LCA) had been diagnosed on/in 42 children between 1968 and 1996 at the Deptm. of Ophthalmology, University Hospital Zurich. We reexamined critically this rare diagnosis in retrospect and with new examinations where possible. Clinical and electroretinographic (ERG) results, often obtained in general anesthesia, were re-evaluated and when possible repeated in new examinations. Thirty-three of the total 42 patients presented with an extinguished, 35 with markedly reduced, and 6 with minimal ERGs. A profound visual loss (from no light perception to 20/200), nystagmus and strabismus were the principal symptoms. The heterogeneity of retinal findings ranged from normal to salt and pepper or bone spicules pigmentation and pronounced chorioretinal atrophy. Vascular attenuation and rarification were frequent. Patients with nonocular findings such as mental retardation (n = 12), renal (n = 3) and skeletal (n = 4) abnormalities revealed no differing ERG- or retinal findings. The oculodigital sign (eye-poking) was found in 25%, and parental consanguinity was evident in 10% of the cases. In 16 patients that were reexamined, the progression of the disease was characterized by an increase in retinal pigmentary changes, attenuation of retinal vessel, and further diminuation of the visual acuity (n = 6). Upon review, the diagnosis had to be revised in 8 patients as juvenile retinitis pigmentosa and in one as infantile Refsum syndrome. Bilateral visual impairement in infants should be assessed clinically and electroretinographically within the first year. Neuropediatric and metabolic examinations meaningfully complement the diagnostic procedures.

  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 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.

  8. 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.

  9. 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.

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

    OpenAIRE

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

    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 ...

  11. 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.

  12. 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

  13. RLS, PLM, and their differential diagnosis--a video guide.

    Science.gov (United States)

    Högl, Birgit; Zucconi, Marco; Provini, Federica

    2007-01-01

    This video guide has been designed as an introduction to the full spectrum of nocturnal presentations of restless legs syndrome (RLS) and periodic limb movements (PLM), and to their differential diagnoses. The DVD consists of four sections: In the first part, clinical presentations of RLS are covered (videos 1-3). In the second part, the variety of typical and less frequent presentations of PLM are demonstrated (videos 4-14). The third part shows the clinical presentation of augmentation (videos 15-19). The last section is dedicated to the differential diagnosis of RLS and PLM and demonstrates nocturnal manifestations of other motor disorders during sleep, which must be distinguished: Epilepsy, parasomnias, and other movement disorders (of sleep) (videos 20-33). After viewing this DVD, the reader should be able to: (1) appreciate the spectrum of voluntary and unvoluntary movements seen in patients with RLS during wakefulness; (2) recognize typical PLM during sleep in subjects with RLS, and appreciate the enormous variability of clinical presentations of PLM; (3) describe specific and distinct aspects of motor activity in augmentation in patients with RLS; and (4) be aware of the most important differential diagnosis of RLS/PLM from a video or nocturnal motor activity point of view, namely, nocturnal epilepsy, parasomnias, and others.

  14. Neuroradiology of human prion diseases, diagnosis and differential diagnosis.

    Science.gov (United States)

    Gaudino, Simona; Gangemi, Emma; Colantonio, Raffaella; Botto, Annibale; Ruberto, Emanuela; Calandrelli, Rosalinda; Martucci, Matia; Vita, Maria Gabriella; Masullo, Carlo; Cerase, Alfonso; Colosimo, Cesare

    2017-05-01

    Human transmissible spongiform encephalopathies (TSEs), or prion diseases, are invariably fatal conditions associated with a range of clinical presentations. TSEs are classified as sporadic [e.g. sporadic Creutzfeldt-Jakob disease (sCJD), which is the most frequent form], genetic (e.g. Gerstmann-Straussler-Scheinker disease, fatal familial insomnia, and inherited CJD), and acquired or infectious (e.g. Kuru, iatrogenic CJD, and variant CJD). In the past, brain imaging played a supporting role in the diagnosis of TSEs, whereas nowadays magnetic resonance imaging (MRI) plays such a prominent role that MRI findings have been included in the diagnostic criteria for sCJD. Currently, MRI is required for all patients with a clinical suspicion of TSEs. Thus, MRI semeiotics of TSEs should become part of the cultural baggage of any radiologist. The purposes of this update on the neuroradiology of CJD are to (i) review the pathophysiology and clinical presentation of TSEs, (ii) describe both typical and atypical MRI findings of CJD, and (iii) illustrate diseases mimicking CJD, underlining the MRI key findings useful in the differential diagnosis.

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

    Science.gov (United States)

    Raff, Hershel; Carroll, Ty

    2015-02-01

    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. © 2014 The Authors. The Journal of Physiology © 2014 The Physiological Society.

  16. 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.

  17. The differential diagnosis of food intolerance.

    Science.gov (United States)

    Zopf, Yurdagül; Baenkler, Hanns-Wolf; Silbermann, Andrea; Hahn, Eckhart G; Raithel, Martin

    2009-05-01

    More than 20% of the population in industrialized countries suffer from food intolerance or food allergy. Selective literature search for relevant publications in PubMed and the Cochrane Library combined with further data from the interdisciplinary database on chronic inflammatory and allergic diseases of the Erlangen University Hospital. The majority of cases of food intolerance (15% to 20%) are due to non-immunological causes. These causes range from pseudoallergic reactions to enzymopathies, chronic infections, and psychosomatic reactions that are associated with food intolerance. The prevalence of true food allergy, i.e., immunologically mediated intolerance reactions, is only 2% to 5%. The differential diagnosis of food intolerance is broad. Therefore, a structured diagnostic algorithm with input from multiple clinical disciplines should be applied. The treatment consists of eliminating the offending substance from the diet as well as medications and psychosomatic support, when indicated.

  18. Chronic fatigue syndrome: aetiology, diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Palacín Delgado Cecilia

    2009-10-01

    Full Text Available Abstract 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.

  19. [Emergency diagnosis of the acute vestibular syndrome].

    Science.gov (United States)

    Tamás, T László; Garai, Tibor; Király, István; Mike, Andrea; Nagy, Csaba; Paukovics, Ágnes; Schmidt, Péter; Szatmári, Ferenc; Tompos, Tamás; Vadvári, Árpád; Szirmai, Ágnes

    2017-12-01

    To diagnose acute vestibular syndrome (AVS) in a prospective study by a new bedside test (providing 1A evidence) based on oculomotor analysis and assessment of hearing loss. To assess the frequency of central and peripheral causes of acute vestibular syndrome in the emergency room. To establish the diagnostic accuracy of acute cranial computed tomography as compared to oculomotor analysis done by video oculography goggles and audiometry. Between 1st March 2016 and 1st March 2017 we documented 125 patients (62 women, 63 men, average age 53 years) in the emergency room of the Petz Aladár County Teaching Hospital using the above bedside and instrumental testing. Diagnosis was verified by cranial magnetic resonance imaging. According to the results of the instrumental examination in AVS in 67% we found a peripheral cause and in 33% a central pathology. In 62% isolated posterior circulation stroke manifested itself by isolated vertigo without additional focal signs and the acute cranial computed tomography showed negative results in 96%. The instrumental examination increased diagnostic accuracy by making the diagnosis of isolated inferior semicircular canal vestibular neuritis possible. The new bedside oculomotor test is suitable for the diagnosis of posterior circulation stroke manifesting with isolated vertigo in early cases, when the routine neuroradiologic methods have a lower sensitivity or are not available. Orv Hetil. 2017; 158(51): 2029-2040.

  20. 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.

  1. Cavernous sinus syndrome: need for early diagnosis.

    Science.gov (United States)

    Toro, Jaime; Burbano, Lisseth Estefania; Reyes, Saúl; Barreras, Paula

    2015-03-27

    Cavernous sinus syndrome (CSS) is a rare condition characterised by ophthalmoplegia, proptosis, ocular and conjunctival congestion, trigeminal sensory loss and Horner's syndrome. These signs and symptoms result from the involvement of the cranial nerves passing through the cavernous sinus. We report the case of a 53-year-old man with a history of daily stabbing headache associated with dizziness, progressive blurred vision, right ocular pain, ptosis and ophthalmoplegia. After working up the patient, a meningioma was identified as the cause of the CSS. Despite advances in neuroimaging techniques, in some cases, the aetiology of CSS remains difficult to determine. We highlight the clinical and radiological features of a meningioma, one of the causes of CSS. Early diagnosis and treatment of CSS play a key role in a better prognosis. 2015 BMJ Publishing Group Ltd.

  2. Differentiating lower motor neuron syndromes.

    Science.gov (United States)

    Garg, Nidhi; Park, Susanna B; Vucic, Steve; Yiannikas, Con; Spies, Judy; Howells, James; Huynh, William; Matamala, José M; Krishnan, Arun V; Pollard, John D; Cornblath, David R; Reilly, Mary M; Kiernan, Matthew C

    2017-06-01

    Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial motor neuron disease. Recent genetic advances have resulted in the identification of a variety of disease-causing mutations. Immune-mediated disorders, including multifocal motor neuropathy and variants of chronic inflammatory demyelinating polyneuropathy, account for a proportion of LMN presentations and are important to recognise, as effective treatments are available. The present review will outline the spectrum of LMN syndromes that may develop in adulthood and provide a framework for the clinician assessing a patient presenting with predominantly LMN features. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  3. Diagnosis and diagnostic tests for fibromyalgia (syndrome).

    Science.gov (United States)

    Häuser, W; Wolfe, F

    2012-09-28

    To present diagnostic criteria for the clinical diagnosis of fibromyalgia syndrome (FMS) and to offer a scheme for diagnostic work-up in clinical practice. Narrative review of the literature, consensus documents by the American College of Rheumatology (ACR), evidence-based interdisciplinary German guidelines on the diagnosis and management of FMS. The ACR 1990 classification criteria emphasized tender points and widespread pain as the key features of FMS. In 2010, the ACR proposed preliminary diagnostic criteria for fibromyalgia that abandoned the tender point count and placed increased emphasis of patient symptoms. A later modification of the ACR 2010 criteria for use in surveys employed a self-report questionnaire (Fibromyalgia Survey Questionnaire FSQ) to assess patient symptoms. The FSQ can be used to assist physician's diagnosis of FMS. We recommend a stepwise diagnostic work-up of patients with chronic widespread pain (CWP) in primary care: Complete medical history including medication, complete medical examination, basic laboratory tests to screen for inflammatory or endocrinology diseases, referral to specialists only in case of suspected somatic diseases, assessment of limitations of daily functioning, screening for other functional somatic symptoms and mental disorders, and referring to mental health specialists in case of mental disorder. The diagnosis of FMS is easy in most patients with CWP and does not ordinarily require a rheumatologist. A rheumatologist's expertise might be needed to exclude difficult to diagnose or concomitant inflammatory rheumatic diseases. In the presence of mental illness referral to a mental health specialist for evaluation is recommended.

  4. Neuropsychological differential diagnosis of mild traumatic brain injury.

    Science.gov (United States)

    Larrabee, Glenn J; Rohling, Martin L

    2013-01-01

    The diagnosis and evaluation of mild traumatic brain injury (mTBI) is reviewed from the perspective of meta-analyses of neuropsychological outcome, showing full recovery from a single, uncomplicated mTBI by 90 days post-trauma. Persons with history of complicated mTBI characterized by day-of-injury computed tomography or magnetic resonance imaging abnormalities, and those who have suffered prior mTBIs may or may not show evidence of complete recovery similar to that experienced by persons suffering a single, uncomplicated mTBI. Persistent post-concussion syndrome (PCS) is considered as a somatoform presentation, influenced by the non-specificity of PCS symptoms which commonly occur in non-TBI samples and co-vary as a function of general life stress, and psychological factors including symptom expectation, depression and anxiety. A model is presented for forensic evaluation of the individual mTBI case, which involves open-ended interview, followed by structured interview, record review, and detailed neuropsychological testing. Differential diagnosis includes consideration of other neurologic and psychiatric disorders, symptom expectation, diagnosis threat, developmental disorders, and malingering. Copyright © 2013 John Wiley & Sons, Ltd.

  5. Diagnosis, Differential Diagnoses, and Classification of Diverticular Disease.

    Science.gov (United States)

    Lembcke, Bernhard

    2015-04-01

    While detailed history, physical examination, and laboratory tests are of great importance when examining a patient with diverticular disease, they are not sufficient to diagnose (or stratify) diverticulitis without cross-sectional imaging (ultrasonography (US), computed tomography (CT)). Qualified US has diagnostic value equipotent to qualified CT, follows relevant legislation for radiation exposure protection, and is frequently effectual for diagnosis. Furthermore, its unsurpassed resolution allows detailed investigation down to the histological level. Subsequently, US is considered the first choice of imaging in diverticular disease. Vice versa, CT has definite indications in unclear/discrepant situations or insufficient US performance. Endoscopy is not required for the diagnosis of diverticulitis and shall not be performed in the acute attack. Colonoscopy, however, is warranted after healing of acute diverticulitis, prior to elective surgery, and in atypical cases suggesting other diagnoses. Perforation/abscess must be excluded before colonoscopy. Reliable diagnosis is fundamental for surgical, interventional, and conservative treatment of the different presentations of diverticular disease. Not only complications of acute diverticulitis but also a number of differential diagnoses must be considered. For an adequate surgical strategy, correct stratification of complications is mandatory. Subsequently, in the light of currently validated diagnostic techniques, the consensus conference of the German Societies of Gastroenterology (DGVS) and of Visceral Surgery (DGAV) has passed a new classification of diverticulitis displaying the different facets of diverticular disease. This classification addresses different types (not stages) of the condition, and includes symptomatic diverticular disease (SUDD), largely resembling irritable bowel syndrome, as well as diverticular bleeding.

  6. 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

  7. Irritable bowel syndrome: Diagnosis and pathogenesis

    Science.gov (United States)

    El-Salhy, Magdy

    2012-01-01

    Irritable bowel syndrome (IBS) is a common gastrointestinal (GI) disorder that considerably reduces the quality of life. It further represents an economic burden on society due to the high consumption of healthcare resources and the non-productivity of IBS patients. The diagnosis of IBS is based on symptom assessment and the Rome III criteria. A combination of the Rome III criteria, a physical examination, blood tests, gastroscopy and colonoscopy with biopsies is believed to be necessary for diagnosis. Duodenal chromogranin A cell density is a promising biomarker for the diagnosis of IBS. The pathogenesis of IBS seems to be multifactorial, with the following factors playing a central role in the pathogenesis of IBS: heritability and genetics, dietary/intestinal microbiota, low-grade inflammation, and disturbances in the neuroendocrine system (NES) of the gut. One hypothesis proposes that the cause of IBS is an altered NES, which would cause abnormal GI motility, secretions and sensation. All of these abnormalities are characteristic of IBS. Alterations in the NES could be the result of one or more of the following: genetic factors, dietary intake, intestinal flora, or low-grade inflammation. Post-infectious IBS (PI-IBS) and inflammatory bowel disease-associated IBS (IBD-IBS) represent a considerable subset of IBS cases. Patients with PI- and IBD-IBS exhibit low-grade mucosal inflammation, as well as abnormalities in the NES of the gut. PMID:23066308

  8. [Metastatic prostate cancer complicated with chronic disseminated intravascular coagulopathy causing acute renal failure, mimicking thrombotic thrombocytopenic purpura and hemolytic uremic syndrome: pathomechanism, differential diagnosis and therapy related to a case].

    Science.gov (United States)

    Deme, Dániel; Ragán, Márton; Kalmár, Katalin; Kovács, Lajos; Varga, Erzsébet; Varga, Tünde; Rakonczai, Ervin

    2010-12-01

    in the peripheral blood), normal INR, elevated lactate dehydrogenase (LDH) and ARF suggested TTP-HUS. Hemodialysis and six plasmaferesis (PF) were carried out. After the fifth PF, skin manifestations of thrombotic microangiopathy occurred on the feet. Clotting analysis revealed elevated D-dimer (>5 μg/mL), normal fibrinogen (3.2 g/L), a slightly raised INR (1.36) and activated partial prothrombin time (APTT) (45.8 sec), normal reticulocyte (57 G/L) and a slightly low platelet count (123 G/L), which proved to be chronic DIC. Therapeutic dose of low-molecular-weight heparin (LMWH) was started. Elevated prostate-specific antigen (PSA) (109.6 ng/mL) suggested prostatic carcinoma. Prostate biopsy revealed adenocarcinoma (Gleason: 4+4 for left lobe and 3+3 for right lobe). Elevated alkaline phosphatase suggested metastases in the bone, which were confirmed by bone scintigraphy. Combined androgen blockade (CAB) was started. After three months follow-up our patient's status is satisfactory. PSA is in the normal range (4.6 ng/mL). Thrombocytopenia of uncertain origin with normal or raised INR, APTT, elevated D-dimer, normal fibrinogen and reticulocyte count prove the diagnosis of chronic DIC. This process warrants searching for metastatic neoplasia. Due to the relatively low serum levels of circulating procoagulant factors (e.g. tissue factor), therapeutic dose of LMWH can be used with good efficiency in chronic DIC with low risk of bleeding. Severe DIC as a complication of metastatic prostate cancer can be treated by androgen deprivation therapy (ADT) or CAB in combination with ketokonazole and concomitant use of supportive treatment. Deme D, Ragán M, Kovács L, Kalmár K, Varga E, Varga T, Rakonczai E. Metastatic prostate cancer complicated with chronic disseminated intravascular coagulopathy causing acute renal failure mimicking thrombotic thrombocytopenic purpura and hemolytic uremic syndrome: pathomechanism, differential diagnosis and therapy related to a case.

  9. Algorithms for the diagnosis and treatment of restless legs syndrome in primary care

    Directory of Open Access Journals (Sweden)

    Monti Giorgio

    2011-02-01

    Full Text Available Abstract Background Restless legs syndrome (RLS is a neurological disorder with a lifetime prevalence of 3-10%. in European studies. However, the diagnosis of RLS in primary care remains low and mistreatment is common. Methods The current article reports on the considerations of RLS diagnosis and management that were made during a European Restless Legs Syndrome Study Group (EURLSSG-sponsored task force consisting of experts and primary care practioners. The task force sought to develop a better understanding of barriers to diagnosis in primary care practice and overcome these barriers with diagnostic and treatment algorithms. Results The barriers to diagnosis identified by the task force include the presentation of symptoms, the language used to describe them, the actual term "restless legs syndrome" and difficulties in the differential diagnosis of RLS. Conclusion The EURLSSG task force reached a consensus and agreed on the diagnostic and treatment algorithms published here.

  10. Algorithms for the diagnosis and treatment of restless legs syndrome in primary care.

    Science.gov (United States)

    Garcia-Borreguero, Diego; Stillman, Paul; Benes, Heike; Buschmann, Heiner; Chaudhuri, K Ray; Gonzalez Rodríguez, Victor M; Högl, Birgit; Kohnen, Ralf; Monti, Giorgio Carlo; Stiasny-Kolster, Karin; Trenkwalder, Claudia; Williams, Anne-Marie; Zucconi, Marco

    2011-02-27

    Restless legs syndrome (RLS) is a neurological disorder with a lifetime prevalence of 3-10%. in European studies. However, the diagnosis of RLS in primary care remains low and mistreatment is common. The current article reports on the considerations of RLS diagnosis and management that were made during a European Restless Legs Syndrome Study Group (EURLSSG)-sponsored task force consisting of experts and primary care practitioners. The task force sought to develop a better understanding of barriers to diagnosis in primary care practice and overcome these barriers with diagnostic and treatment algorithms. The barriers to diagnosis identified by the task force include the presentation of symptoms, the language used to describe them, the actual term "restless legs syndrome" and difficulties in the differential diagnosis of RLS. The EURLSSG task force reached a consensus and agreed on the diagnostic and treatment algorithms published here.

  11. The differential diagnosis of anxiety. Psychiatric and medical disorders.

    Science.gov (United States)

    Cameron, O G

    1985-03-01

    This article has reviewed clinical and demographic features of the primary anxiety disorders and other psychiatric and medical disorders that often are associated with anxiety symptoms, highlighting differential diagnosis. In summary, phobic disorders (exogenous anxiety) are characterized by anxiety reliably elicited by specific environmental stimuli; the stimuli involved determine which type of phobia is diagnosed. In contrast, panic attacks and generalized anxiety (endogenous anxiety) involve symptoms of anxiety not associated only with specific eliciting stimuli. Panic disorder is differentiated from generalized anxiety disorder by the presence of discrete attacks; both disorders usually have some level of persistent anxiety. Obsessive-compulsive disorder is characterized by recurrent unwanted but irresistible thoughts and the ritualized repetitive acts resulting from these obsessions, in the absence of preexisting psychosis or depression. Finally, posttraumatic stress disorder involves various anxiety (and other) symptoms as a direct result of an obvious stressor. Depressive symptoms are frequently associated with anxiety. It is sometimes impossible to determine which is the primary disorder. Overlap of syndromes probably also occurs with other primary psychiatric disorders, especially somatoform disorders, adjustment disorder with anxious mood, and several personality disorders. Finally, primary anxiety can be confused with several medical syndromes, especially when the medical disorder has not been recognized. Nevertheless, research with patients with pheochromocytoma suggests that medical causes of anxiety may be qualitatively different from primary anxiety disorders, especially the psychic anxiety component. Attention to the clinical and demographic features listed in Table 4, as well as the use of newly-developed structured diagnostic interviews should usually lead to a correct diagnosis, as illustrated by the following examples. The onset of a fear of

  12. Diagnosis and diagnostic tests for fibromyalgia (syndrome

    Directory of Open Access Journals (Sweden)

    F. Wolfe

    2012-09-01

    Full Text Available Objectives: To present diagnostic criteria for the clinical diagnosis of fibromyalgia syndrome (FMS and to offer a scheme for diagnostic work-up in clinical practice. Methods: Narrative review of the literature, consensus documents by the American College of Rheumatology (ACR, evidence-based interdisciplinary German guidelines on the diagnosis and management of FMS. Results: The ACR 1990 classification criteria emphasized tender points and widespread pain as the key features of FMS. In 2010, the ACR proposed preliminary diagnostic criteria for fibromyalgia that abandoned the tender point count and placed increased emphasis of patient symptoms. A later modification of the ACR 2010 criteria for use in surveys employed a self-report questionnaire (Fibromyalgia Survey Questionnaire FSQ to assess patient symptoms. The FSQ can be used to assist physician’s diagnosis of FMS. We recommend a stepwise diagnostic work-up of patients with chronic widespread pain (CWP in primary care: Complete medical history including medication, complete medical examination, basic laboratory tests to screen for inflammatory or endocrinology diseases, referral to specialists only in case of suspected somatic diseases, assessment of limitations of daily functioning, screening for other functional somatic symptoms and mental disorders, and referring to mental health specialists in case of mental disorder. Conclusions: The diagnosis of FMS is easy in most patients with CWP and does not ordinarily require a rheumatologist. A rheumatologist’s expertise might be needed to exclude difficult to diagnose or concomitant inflammatory rheumatic diseases. In the presence of mental illness referral to a mental health specialist for evaluation is recommended.

  13. [Definition, classification and diagnosis of fibromyalgia syndrome].

    Science.gov (United States)

    Eich, W; Häuser, W; Friedel, E; Klement, A; Herrmann, M; Petzke, F; Offenbächer, M; Schiltenwolf, M; Sommer, C; Tölle, T; Henningsen, P

    2008-12-01

    Interdisciplinary guidelines for the definition, classification and diagnosis of chronic widespread pain (CWP) and fibromyalgia syndrome (FMS) were developed by collaboration of 10 German medical and psychological associations and 2 patient self-help organizations. A systematic literature search was performed in the Cochrane Library (1993-12/2006). Medline (1980-2006), and Scopus (1980-12/2006). Levels of evidence were assigned according to the classification system of the Oxford Center for Evidence-Based Medicine. Grading of the strength of recommendation was done according to the German program for disease management guidelines. Standardized procedures to reach a consensus on recommendations were used. CWP is defined by the criteria of the American College of Rheumatology (ACR-strong consensus). FMS can be diagnosed for clinical purposes by symptom-based criteria (without tender point examination) as well as by the ACR criteria (strong consensus).

  14. Diagnosis and Management of Ovarian Tumor in Mayer-Rokitansky-Küster-Hauser (MRKH Syndrome

    Directory of Open Access Journals (Sweden)

    Yali Miao

    2018-01-01

    Full Text Available In the most recent publications on Mayer-Rokitansky-Küster-Hauser (MRKH syndrome, the uterine remnants and ovaries in patients may develop uterine remnant leiomyoma, adenomyosis, or ovarian tumor, and this can lead to problems in differential diagnosis. Here we summarize the diagnosis methods and available interventions for ovarian tumor in MRKH syndrome, with emphasis on the relevant clinical findings and illustrative relevant case. According to the clinical findings and illustrative relevant case, with the help of imaging techniques, ovarian tumors can be detected in the pelvis in patients with MRKH syndrome and evaluated in terms of size. Laparoscopy could further differentiate ovarian tumors into different pathological types. In addition, laparoscopic surgery not only is helpful for the diagnosis of MRKH combined ovarian tumor, but also has a good treatment role for excising ovarian tumor at the same time. Moreover, laparoscopic removals of ovarian tumor can be considered as a safe and reliable treatment for conservative management.

  15. The cracked tooth syndrome: an elusive diagnosis.

    Science.gov (United States)

    Türp, J C; Gobetti, J P

    1996-10-01

    The authors review the literature and present a case of cracked tooth syndrome. Special emphasis is placed on diagnostic problems associated with this syndrome. The case report demonstrates classic and atypical features of cracked tooth syndrome.

  16. Differentiating nocturnal leg cramps and restless legs syndrome.

    Science.gov (United States)

    Rana, Abdul Qayyum; Khan, Fatima; Mosabbir, Abdullah; Ondo, William

    2014-07-01

    Leg pain and discomfort are common complaints in any primary physician's clinic. Two common causes of pain or discomfort in legs are nocturnal leg cramps (NLC) and restless leg syndrome (RLS). NLC present as painful and sudden contractions mostly in part of the calf. Diagnosis of NLC is mainly clinical and sometimes involves investigations to rule out other mimics. RLS is a condition characterized by the discomfort or urge to move the lower limbs, which occurs at rest or in the evening/night. The similarity of RLS and leg cramps poses the issue of errors in diagnosing and differentiating the two. In this paper we review the pathopysiology of each entity and their diagnosis as well as treatment. The two conditions are then compared to appreciate the differences and similarities. Finally, suggestions are recommended for complete assessment.

  17. [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.

  18. Differential Diagnosis of Genetic Disorders Associated with Moderate to Severe Refractory Eczema and Elevated Immunoglobulin E.

    Science.gov (United States)

    Arjona Aguilera, C; Albarrán Planelles, C; Tercedor Sánchez, J

    2016-03-01

    The association of moderate to severe eczema and elevated plasma levels of immunoglobulin E is a characteristic not only of atopic dermatitis but also of various genodermatoses: hyperimmunoglobulin E syndromes, Omenn syndrome, Netherton syndrome, peeling skin syndrome type B, severe dermatitis, multiple allergies, and metabolic wasting syndrome, Wiskott-Aldrich syndrome, prolidase deficiency, Loeys-Dietz syndrome, IPEX syndrome, STAT5B deficiency, and pentasomy X. The clinical presentation of these genodermatoses -typically in children- is consistent with severe atopic dermatitis. Immunoglobulin E is elevated from birth and response to conventional treatments is poor. Diagnosis is further complicated by the fact that these genodermatoses often share other clinical manifestations and laboratory findings. We present practical guidelines for differentiating among these various entities, with the aim of helping physicians decide what type of genetic test should be carried out -and when- in order to establish a definitive diagnosis. Copyright © 2015 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

  19. Prenatal Diagnosis and Pathology of Laryngeal Atresia in Congenital High Airway Obstruction Syndrome

    Directory of Open Access Journals (Sweden)

    Piya Chaemsaithong

    2012-01-01

    Full Text Available Congenital high airway obstruction syndrome is a rare but life-threatening condition. Therefore, prenatal diagnosis is important. The obstruction can be due to laryngeal/tracheal atresia or external compression. While a differential diagnosis with congenital cystic adenomatoid malformation (CCAM type III may be difficult, it is still possible with ultrasonography. In this study, we report a case of bilateral echogenic lungs with hydrops fetalis. After the prenatal diagnosis of laryngeal atresia, the couple opted to have an elective termination of pregnancy performed at 20 weeks of gestation. The diagnosis was confirmed by a complete pathological examination.

  20. 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...

  1. The role of long-term video EEG in the diagnosis and differential diagnosis of epilepsy

    Directory of Open Access Journals (Sweden)

    Sha HUANG

    2014-12-01

    Full Text Available Objective To evaluate the diagnostic value of long-term video EEG (LT-VEEG in epileptic and non-epileptic seizure disorders.  Methods The LT-VEEG data of 279 patients who was diagnosed as epilepsy or suspected epilepsy due to paroxysmal events were analyzed retrospectively.  Results Among 279 cases, 122 cases (43.73% were detected clinical seizures. Among them, 84 cases who had been found synchronous epileptic discharge in fit period were diagnosed as epilepsy, and 38 cases without synchronous epileptic discharge were diagnosed as non-epileptic seizures. In 157 cases (56.27% who were not detected seizures, there were 102 cases being monitored interictal epileptiform discharges. In 188 patients who had been monitored epileptic attack or interictal epileptic discharge, 97 cases were identified seizure types, among whom 75 cases were further diagnosed as epilepsy syndrome.  Conclusions The LT-VEEG has important clinical value in the diagnosis and typing of epilepsy and differential diagnosis with non-epileptic seizures. doi: 10.3969/j.issn.1672-6731.2014.11.012

  2. [Diagnosis and therapy of the hepatorenal syndrome].

    Science.gov (United States)

    Blomeyer, Sandra; Tyczynski, Bartosz; Gerken, Guido; Canbay, Ali

    2015-07-01

    Portal hypertension occurs frequently in advanced liver cirrhosis and accounts for the majority of lethal complications. Compensatory splanchnic vasodilation and counter regulatory mechanisms (e.g. activation of the renin-angiotensin-aldosterone system) increase renal vascular resistance, which may facilitate acute kidney injury and the development of hepatorenal syndrome (HRS). HRS represents a functional, yet reversible renal impairment with elevated serum creatinine levels. Establishing the diagnosis, fluid challenge test and several investigations are needed to exclude acute kidney injury and other causes of renal failure. Early treatment with albumin and vasoconstrictors improves the prognosis of HRS patients. The only curative treatment of HRS so far is improvement of liver function implying liver transplantation in many cases. TIPS placement may be useful as a bridging tool to transplantation unless hepatic encephalopathy is present. Spontaneous bacterial peritonitis (SBP) is a relevant, independent risk factor for HRS. In patients with liver cirrhosis and SBP in addition to antibiotics, preventive albumin treatment is recommended. © Georg Thieme Verlag KG Stuttgart · New York.

  3. Ectopic thyroid tissue: unusual differential diagnosis of cervical ...

    African Journals Online (AJOL)

    Ectopic thyroid tissue: unusual differential diagnosis of cervical paraganglioma. Houda Chahed, Ghada Kharrat, Rim Bechraoui, Jihene Marrakchi, Azza Mediouni, Mohamed Ben Amor, Rim Zainine, Nejeh Beltaief, Ghazi Besbes ...

  4. [Differential diagnosis and treatment of cramps].

    Science.gov (United States)

    Diener, H C; Westphal, K

    2013-10-10

    Cramps are painful sensations caused by intense involuntary contractions of skeletal muscles, mostly in the calves, usually lasting from a few seconds to several minutes. Although cramps are mostly idiopathic, theycan bea symptom of other forms of myalgia, restless legs syndrome or spasticity. Especially nocturnal cramps can cause considerable distress for patients requiring fast pain reduction and effective prophylaxis. Stretching the calf muscles helps preventing nocturnal cramps. Pharmacological treatment of leg cramps includes magnesium and quinine.

  5. The post-discectomy syndrome. Aetiology, diagnosis, treatment, prevention.

    Science.gov (United States)

    Ivanic, G M; Pink, T P; Homann, N C; Scheitza, W; Goyal, S

    2001-10-01

    The post-discectomy syndrome (PDS) is a common diagnosis in patients with problems following a disc operation. The different causes of PDS make the establishment of the correct diagnosis and its corresponding efficient treatment difficult. A general overview published in the bibliographical data covering the entity of PDS is rare. The following paper aims to specify PDS according to its aetiology, diagnosis, treatment and prevention. The diagnosis should be made efficiently, so that the patient can receive prompt adequate therapy.

  6. 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.

  7. 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...

  8. The Importance of Correct Diagnosis of Crocodile Tears Syndrome.

    Science.gov (United States)

    de Oliveira, Danila; Gomes-Ferreira, Pedro Henrique Silva; Carrasco, Leandro Carlos; de Deus, Ciro Borges Duailibe; Garcia-Júnior, Idelmo Rangel; Faverani, Leonardo Perez

    2016-10-01

    The excessive unilateral tearing as a result of gustatory stimuli is a characteristic of crocodile tears syndromes. The aim of this study is to report 2 cases of Frey and crocodile tears syndromes, considering diagnosis, monitoring, and selection of appropriate treatment. A 74-year-old female patient presented with a history of Bell palsy, tearing on left eye at the moment of chewing, and absence of pain. The patient opted only for periodic case monitoring because the symptoms presented by the syndrome did not bother her, which made any invasive procedure unnecessary, and with the closed diagnosis she may be reassured and really know what was happening to her. So scientific divulgations about this syndrome should be made in order to increase the knowledge of dentists and oral and maxillofacial surgeons, because it is a rare syndrome and easily diagnosed. Due to the low knowledge in Brazil, the patient of this report had to wait about 9 years to get a diagnosis.

  9. Elevation of troponin values in differential diagnosis of chest pain in view of pulmonary thromboembolism

    Directory of Open Access Journals (Sweden)

    Vučić Rada

    2012-01-01

    Full Text Available Introduction. Acute coronary syndrome, as unstable form of ischaemic heart disease, beside clinical presentation and electrocardiographic abnormalities, is characterized by increased value of troponin one of cardiospecific enzimes. Although troponin is a high specific and sensitive indicator of acute coronary syndrome, any heart muscle injury may induce its increasing, so there are some other diseases with the increased troponin value. Case report. We presented a female patient with chest pain, admitted because of suspicioun of acute coronary sindrome. Performed coronarography excluded ischemic heart disease. Considering symtomatology, electrocardiographic abnormalities, increased troponin and D-dimer values, as well as echocardiography finding we considered pulmonary embolism as a differential diagnosis, which was confirmed by pulmoangiography. Conclusion. Isolated increased troponin values are not enough for diagnosis of acute coronary syndrome.

  10. 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...

  11. Metabolic Syndrome and Aggressive Prostate Cancer at Initial Diagnosis.

    Science.gov (United States)

    Di Francesco, Simona; Tenaglia, Raffaele L

    2017-07-01

    Links between metabolic syndrome and prostate cancer after androgen deprivation therapy are emerging. The aim of the research was to investigate the association of metabolic syndrome and aggressive prostate malignancy, at initial diagnosis, without the influence of hormonal treatment. Retrospective analysis of 133 patients with prostate tumor diagnosis between 2007 and 2009 was conducted. Patients with prostate cancer were subdivided in 2 groups according to Gleason score: Gleason score≥7 as high-grade prostate tumor (Group 1) and Metabolic syndrome was defined according to International Diabetes Federation and the American Heart Association/National Heart, Lung, and Blood Institute definition. Metabolic syndrome was significantly associated with aggressive prostate cancer (OR 1.87, pmetabolic syndrome were more likely to present with more aggressive prostate carcinoma vs. patients without metabolic syndrome. Further research should elucidate these relations in larger samples to confirm these associations and to stabilize future prevention and therapeutic strategies. © Georg Thieme Verlag KG Stuttgart · New York.

  12. Anal sphincter EMG in the diagnosis of parkinsonian syndromes

    DEFF Research Database (Denmark)

    Winge, K; Jennum, Poul Jørgen; Løkkegaard, Annemette

    2010-01-01

    The role of electromyography (EMG) recorded from the external anal sphincter (EAS) in the diagnosis of atypical parkinsonian syndromes is a matter for continuous debate. Most studies addressing this issue are retrospective.......The role of electromyography (EMG) recorded from the external anal sphincter (EAS) in the diagnosis of atypical parkinsonian syndromes is a matter for continuous debate. Most studies addressing this issue are retrospective....

  13. Surface primary bone tumors: Systematic approach and differential diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Mendez Diaz, Cristina; Soler Fernandez, Rafaela; Rodriguez Garcia, Esther; Fernandez Armendariz, Pablo; Diaz Angulo, Carolina [Complejo Hospitalario Universitario A Coruna, Department of Radiology, A Coruna (Spain)

    2015-09-15

    Surface primary bone tumors may appear similar to their intramedullary counterpart, but because they are rare, they may pose diagnostic challenges when showing different characteristics compared to their intramedullary counterpart. It is important for radiologists to recognize the imaging findings for various uncommon surface primary bone tumors, which may help to reduce the differential diagnosis or to lead to a specific diagnosis. Radiography is typically used for first-line imaging. If necessary, it is followed by CT or MRI for evaluation and characterization of surface bone tumors. The aim of this article is to review the imaging findings and differential diagnosis for surface primary bone tumors. (orig.)

  14. 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.)

  15. [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.

  16. 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.

  17. 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.

  18. [Muscle cramps--differential diagnosis and therapy].

    Science.gov (United States)

    Reichel, Gerhard

    2009-03-01

    Calf cramps are sudden, involuntary, painful contractions of part of or the entire calf muscle that are visible, persist for seconds to minutes and then spontaneously resolve. They can occur with no identifiable cause, and are then referred to as common calf cramps. They may also be symptoms associated with diseases of the peripheral and central nervous system and muscle diseases. They also occur in association with metabolic disorders. In such cases the cramps are more extensive, intense and persist for longer. Cramp-fasciculation-myalgia syndrome additionally involves paresthesias and other signs of hyperexcitability of peripheral nerves. The recommended treatment for patients with frequent calf cramps causing significant impairment of well-being is oral administration of quinidine and/or botulinum toxin treatment of the calf muscles. During pregnancy both products are contraindicated, while probatory administration of magnesium is indicated.

  19. Hepatic hemangiosarcoma: imaging findings and differential diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Rademaker, J.; Galanski, M. [Department of Radiology I, Medical School Hannover (Germany); Widjaja, A. [Department of Gastroenterology and Hepatology, Medical School Hannover (Germany)

    2000-01-01

    Primary hepatic angiosarcoma is a rare mesenchymal tumor of the liver that usually presents with nonspecific symptoms in elderly men. We present four cases of hepatic hemangiosarcoma and discuss the imaging characteristics of this entity. Our series shows that this tumor is not uncommon in younger patients with no associated risk factors such as previous exposure to thorotrast or vinyl chloride. Our experiences on a limited number of patients suggests that the combined use of angiography and dual-phase helical CT provides a better identification of the tumor and its complications. Analysis of imaging studies in patients with hepatic hemangiosarcoma reveals hypervascular lesions. Common complications were portal vein thrombosis, Budd-Chiari syndrome, as well as arterio-venous or arterio-portal shunts. Due to the vascularity of the tumor, percutaneous liver biopsy is hazardous. (orig.)

  20. Pulmonary calcifications. CT assessment and differential diagnosis

    International Nuclear Information System (INIS)

    Henk, C.B.; Liskutin, J.; Fleischmann, D.; Mostbeck, G.H.

    1996-01-01

    Pulmonary calcifications are a frequent finding in CT examinations of the chest. In many cases, characteristic CT morphology and distribution of pulmonary and mediastinal calcifications may lead to a straightforward specific diagnosis of the underlying disease. In that respect, calcifications are often the residual finding of previous infections. Less often, they may be due to neoplasms, metabolic disorders, occupational exposure or previous therapy. This review focuses on the etiology, pathogenesis and morphological CT features of pulmonary calcifications. A knowledge of the technical aspects of CT imaging is required to verify calcifications and avoid pitfalls. (orig.) [de

  1. THE DIFFERENTIATIVE DIAGNOSIS OF RENAL CYSTS

    Directory of Open Access Journals (Sweden)

    A. V. Seregin

    2012-01-01

    Full Text Available  Despite the progress of diagnostic possibilities, the interpretation of renal cysts is still difficult and may have false negative results. So far there is no algorithm of renal cysts patients examination and treatment. Further diagnostic process improvement and an exact knowledge of the possibilities of each method are needed. The main factor for choosing the right tactics of treatment and giving the prognosis of the disease is not only the diagnosis, but also the exact gradation of the renal cysts according to the Bosniak classification. 

  2. THE DIFFERENTIATIVE DIAGNOSIS OF RENAL CYSTS

    Directory of Open Access Journals (Sweden)

    A. V. Seregin

    2014-07-01

    Full Text Available  Despite the progress of diagnostic possibilities, the interpretation of renal cysts is still difficult and may have false negative results. So far there is no algorithm of renal cysts patients examination and treatment. Further diagnostic process improvement and an exact knowledge of the possibilities of each method are needed. The main factor for choosing the right tactics of treatment and giving the prognosis of the disease is not only the diagnosis, but also the exact gradation of the renal cysts according to the Bosniak classification. 

  3. 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.

  4. Metabolic syndrome in children and adolescents - criteria for diagnosis

    OpenAIRE

    Mancini, Marcio C

    2009-01-01

    Abstract In recent years, there has been a greater concern about the presence of obesity and metabolic syndrome in children and adolescents. However, there is no consensus regarding the diagnosis of metabolic syndrome in children and adolescents. It is evident that each component of the syndrome must be identified as early as possible in order to prevent definitive lesions. The question is how to do this and which cut-offs must be adopted for this diagnosis. For a matter of convenience, the d...

  5. 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.)

  6. 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.

  7. Frequency of irritable bowel syndrome diagnosis made by ...

    African Journals Online (AJOL)

    Background/aim: Irritable bowel syndrome (IBS) is a common gastrointestinal disorder. Despite the high prevalence of this disease, it is not known how frequently this diagnosis is made by physicians in. Nigeria. The purpose of the study was to determine the frequency with which the diagnosis of IBS is made by physicians ...

  8. The Importance of Early Diagnosis of Gardner's syndrome in Dental ...

    African Journals Online (AJOL)

    2018-02-07

    Feb 7, 2018 ... Histopathology report revealed malignant changes in the intestinal polyps. Early colectomy, which is a life-saving operation, was possible because of our early diagnosis. KEYWORDS: Cone-beam CT, Gardner syndrome, osteoma, panoramic radiography. The Importance of Early Diagnosis of Gardner's ...

  9. 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...

  10. Metabolic syndrome in children and adolescents - criteria for diagnosis

    Science.gov (United States)

    Mancini, Marcio C

    2009-01-01

    In recent years, there has been a greater concern about the presence of obesity and metabolic syndrome in children and adolescents. However, there is no consensus regarding the diagnosis of metabolic syndrome in children and adolescents. It is evident that each component of the syndrome must be identified as early as possible in order to prevent definitive lesions. The question is how to do this and which cut-offs must be adopted for this diagnosis. For a matter of convenience, the definition chosen as the most appropriate is the one proposed by the IDF, with cut-offs fixed for pressure, lipids and glycemia, and abdominal circumference points assessed by percentile. Although on the one hand this definition could fail to include some children in the diagnosis of Metabolic Syndrome, on the other hand, it would be of easier acceptance as it does not use multiple tables to assess several anthropometric and metabolic criteria. PMID:19840386

  11. Differential diagnosis and treatment of vestibular vertigo

    Directory of Open Access Journals (Sweden)

    Vladimir Anatolyevich Parfenov

    2010-01-01

    Full Text Available Vertigo is a common complaint that leads patients to visit physicians of various specialties. Diseases resulting in vestibular vertigo are very diverse and may be caused by lesion of both the central parts of the vestibular system and the peripheral vestibular apparatus. In many cases, its diagnosis can be made from complaints and a history of disease and special bedside tests requiring no sophisticated equipment. Management of vestibular vertigo should aim at treating the underlying disease; vestibular dilators as symptomatic therapy can be effective for several days. Vestibular exercises the efficiency of which can be enhanced by betahistine and other drugs accelerating vestibular compensation should be further needed. Data on the efficacy of betaver (betahistine in patients with vestibular vertigo are given.

  12. [Diverticular disease : Complications and differential diagnosis].

    Science.gov (United States)

    Schreyer, A G

    2018-04-01

    Diverticular disease is becoming increasingly more common in the western world. It is clinically subdivided into uncomplicated diverticular disease and diverticular disease with a complicated course. In approximately 20% of cases the diverticula will become symptomatic during the lifetime of patients. In contrast to previous medical opinions, the occurrence of diverticula cannot be prevented by a diet rich in fiber; however, the development into complicated diverticulitis can be reduced by dietary measures. Complications include perforations, abscess and fistula formation or mechanical ileus. In addition, hemorrhage can occur as a complication, which can, however, occur in diverticulosis and also diverticulitis and especially in the chronic form. For the differential diagnostics a broad spectrum of inflammatory and noninflammatory diseases of the abdomen and pelvis must be taken into consideration. According to the new S2K guidelines the subdivision of diverticulitis should be implemented using the so-called classification of diverticular diseases (CDD). This enables a stratification of patients for outpatient or inhospital treatment.

  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. Prenatal Diagnosis Of Catch22 Syndrome

    Directory of Open Access Journals (Sweden)

    Rana Karayalçın

    2010-08-01

    Full Text Available Deletions involving the long arm of chromosome 22 (22q11 are involved in various congenital heart diseases and congenital anomalies. In most cases, patients also have the features of DiGeorge Syndrome (DGS, Velocardiofacial Syndrome (VCFS, Shprintzen Syndrome, Conotruncal Anomaly Face Syndrome (CTAF, Caylor Cardiofacial Syndrome or Autosomal Dominant Opitz G/BBB Syndrome. CATCH22 is the summarizing name of all the syndromes caused by 22q11 deletion. We present a prenatally diagnosed case at 19 th week of gestation with tetralogy of Fallot. Amniocyte tissue cultures resulted in normal karyotype at 550 band level. 22q11.2 deletion was detected by using DiGeorge/VCFS TUPLE1 (Cytocell FISH probe. 22q11 testing is necessary in case of detection of conotruncal heart anomalies in pregnancies. Chromosome analysis is not enough in many cases and FISH testing combined with chromosome analysis is an effective way of diagnosing affected cases.

  16. Orbital inflammatory disease: Pictorial review and differential diagnosis

    Science.gov (United States)

    Pakdaman, Michael N; Sepahdari, Ali R; Elkhamary, Sahar M

    2014-01-01

    Orbital inflammatory disease (OID) represents a collection of inflammatory conditions affecting the orbit. OID is a diagnosis of exclusion, with the differential diagnosis including infection, systemic inflammatory conditions, and neoplasms, among other conditions. Inflammatory conditions in OID include dacryoadenitis, myositis, cellulitis, optic perineuritis, periscleritis, orbital apicitis, and a focal mass. Sclerosing orbital inflammation is a rare condition with a chronic, indolent course involving dense fibrosis and lymphocytic infiltrate. Previously thought to be along the spectrum of OID, it is now considered a distinct pathologic entity. Imaging plays an important role in elucidating any underlying etiology behind orbital inflammation and is critical for ruling out other conditions prior to a definitive diagnosis of OID. In this review, we will explore the common sites of involvement by OID and discuss differential diagnosis by site and key imaging findings for each condition. PMID:24778772

  17. Differential Diagnosis between Bartholin Cyst and Vulvar Leiomyoma: Case Report

    OpenAIRE

    Tavares, Kelly Alessandra da Silva; Moscovitz, Thomas; Tcherniakovsky, Marcos; Pompei, Luciano de Melo; Fernandes, César Eduardo

    2017-01-01

    Abstract Genital leiomyomas are rare tumors that can often be misdiagnosed as Bartholin cyst. We report a case of a 32-year-old patient who had a cystic nodulation in the left labium majus that was suggestive of Bartholin cyst. A resection surgery was performed, and the definitive histopathology diagnosis was vulvar leiomyoma. The macroscopic features of cystic lesions difficult the differential diagnosis between leiomyoma and Bartholin cyst; therefore, a histopathologic examination is often ...

  18. Diagnosis and management of nephrotic syndrome.

    Science.gov (United States)

    McCloskey, Oonagh; Maxwell, Alexander P

    2017-02-01

    Nephrotic syndrome is defined by a triad of clinical features: oedema, substantial proteinuria (> 3.5 g/24 hours) and hypoalbuminaemia (syndrome develops following pathological injury to renal glomeruli. This may be a primary problem, with a disease specific to the kidneys, or secondary to a systemic disorder such as diabetes mellitus. The most common cause in children is minimal change glomerulonephritis. In white adults, nephrotic syndrome is most frequently due to membranous nephropathy whereas in populations of African ancestry the most common cause of nephrotic syndrome is focal segmental glomerulosclerosis. Diabetic nephropathy is the most common multisystem disease that can cause nephrotic syndrome. Patients typically present with periorbital oedema (most noticeable in the morning) or dependent pitting oedema (more common later in the day). Proteinuria should be documented by a quantitative measurement e.g. urine protein: creatinine ratio (PCR) or albumin: creatinine ratio (ACR). PCR > 300-350 mg/mmol indicates nephrotic range proteinuria. Urgent referral to a nephrologist (ideally within 2 weeks) is necessary and a renal biopsy is usually performed. This will establish what form of glomerular disease is responsible. Additional tests may be undertaken to assess if nephrotic syndrome is secondary to another disorder e.g. systemic lupus erythematosus or amyloidosis.

  19. 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.

  20. [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.

  1. 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.

  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. 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

  4. 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

  5. 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

  6. 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. 

  7. 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.

  8. Cardiac syndrome X. Diagnosis, pathogenesis and management.

    Science.gov (United States)

    Kaski, Juan Carlos; Aldama, Guillermo; Cosín-Sales, Juan

    2004-01-01

    Patients with cardiac syndrome X (typical chest pain and normal coronary arteriograms) represent a heterogeneous syndrome, which encompasses different pathogenic mechanisms. Although symptoms in most patients with cardiac syndrome X are non-cardiac, a sizable proportion of them have angina pectoris due to transient myocardial ischemia. Thus radionuclide myocardial perfusion defects, coronary sinus oxygen saturation abnormalities and pH changes, myocardial lactate production and stress-induced alterations of cardiac high energy phosphate suggest an ischemic origin of symptoms in at least a proportion of patients with cardiac syndrome X. Microvascular abnormalities, caused by endothelial dysfunction, appear to be responsible for myocardial ischemia in patients with cardiac syndrome X. Endothelial dysfunction is likely to be multifactorial in these patients and it is conceivable that risk factors such as hypertension, hypercholesterolemia, diabetes mellitus and smoking can contribute to its development. Most patients with cardiac syndrome X are postmenopausal women and estrogen deficiency has been therefore proposed as a pathogenic factor in female patients. Additional factors such as abnormal pain perception may contribute to the pathogenesis of chest pain in patients with angina pectoris and normal coronary angiograms. Although prognosis is good regarding survival, patients with cardiac syndrome X have an impaired quality of life. Management of this syndrome represents a major challenge to the treating physician. Understanding the mechanism underlying the condition is of vital importance for patient management. Thus diagnostic tests should aim at identifying the cause of the symptoms in the individual patient, i.e. myocardial ischemia, increased pain perception, abnormalities of adrenergic tone, non-cardiac mechanisms, etc. Moreover, it is important to bear in mind that treatment of cardiac syndrome X should be mainly directed towards improving quality of life, as

  9. 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.

  10. 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.)

  11. 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

  12. Differential Diagnosis of Acute Stroke and Viral Encephalitis

    Directory of Open Access Journals (Sweden)

    I.V. Bogadelnikov

    2012-04-01

    Full Text Available At the present time, there has been an increase in the frequency of ischemic and hemorrhagic stroke in children. The clinical picture of the disease has similar features to the one of viral encephalitis. Differential diagnosis is necessary to choose correct treatment tactics.

  13. [Evaluation on methodological problems in reports concerning quantitative analysis of syndrome differentiation of diabetes mellitus].

    Science.gov (United States)

    Chen, Bi-Cang; Wu, Qiu-Ying; Xiang, Cheng-Bin; Zhou, Yi; Guo, Ling-Xiang; Zhao, Neng-Jiang; Yang, Shu-Yu

    2006-01-01

    To evaluate the quality of reports published in recent 10 years in China about quantitative analysis of syndrome differentiation for diabetes mellitus (DM) in order to explore the methodological problems in these reports and find possible solutions. The main medical literature databases in China were searched. Thirty-one articles were included and evaluated by the principles of clinical epidemiology. There were many mistakes and deficiencies in these articles, such as clinical trial designs, diagnosis criteria for DM, standards of syndrome differentiation of DM, case inclusive and exclusive criteria, sample size and estimation, data comparability and statistical methods. It is necessary and important to improve the quality of reports concerning quantitative analysis of syndrome differentiation of DM in light of the principles of clinical epidemiology.

  14. Prenatal diagnosis of Joubert syndrome: A case report and literature review.

    Science.gov (United States)

    Zhu, Lingling; Xie, Limei

    2017-12-01

    Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling. Prenatal diagnosis is rare. Magnetic resonance imaging (MRI) is usually the first-choice diagnostic modality with typical brain images characterized by the molar tooth sign. We describe a case of JS prenatally and Dandy-Walker malformation for the differential diagnosis based on ultrasonograms. We also review the etiology, imaging features, clinical symptoms, and diagnosis of JSRD. A 22-year-old woman was pregnant at 27 1/7 weeks' gestation with fetal cerebellar vermis hypoplasia. Fetal ultrasonography and MRI confirmed a diagnosis of JS at our center. The couple finally opted to terminate the fetus, which had a normal appearance and growth parameters. The couple also had an AHI1 gene mutation on chromosome 6. Currently, a diagnosis of JS is commonly made after birth. Fewer cases of prenatal diagnosis by ultrasonography have been made, and they are more liable to be misdirected because of some nonspecial features that also manifest in Dandy-Walker malformation, cranio-cerebello-cardiac syndrome, and so on. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  15. 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...

  16. Nosology and Diagnosis of Rett Syndrome

    Science.gov (United States)

    Matson, Johnny L.; Fodstad, Jill C.; Boisjoli, Jessica A.

    2008-01-01

    Rett Syndrome is one of the least commonly occurring autism spectrum disorders (ASD), but certainly one of the most devastating. A genetic profile has been identified, but checklists still have an important role for prescreening, especially before expensive genetic testing, and to provide precise strengths and weaknesses with respect to the core…

  17. 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

  18. Teeth syndrome: diagnosis, complications and management | Sbai ...

    African Journals Online (AJOL)

    Teeth syndrome or fight bite is a specific entity in hand surgery that is little known. It includes infectious complications of the hand following a fist against the teeth. Neglected or misdiagnosed this injury frequently leads to serious complications that could compromise the function of the hand. A retrospective study was ...

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

    Science.gov (United States)

    Vičić, Ana; Hafner, Tomislav; Bekavac Vlatković, Ivanka; Korać, Petra; Habek, Dubravko; Stipoljev, Feodora

    2017-12-01

    The aim of this study is to summarize the experience on prenatal diagnosis of Down syndrome. The study includes a retrospective data analysis of 157 prenatally detected cases of Down syndrome, routinely diagnosed among 6448 prenatal investigations performed during a 13-year period (2002-2014) in a single tertiary center. The prevalence of diagnosed Down syndrome cases was 2.4%. Maternal age alone was indication for prenatal diagnosis in 47 cases (45.2%), increased first-/second-trimester biochemical screening test in 34 cases (21.7%), abnormal ultrasound examination in 69 cases (43.9%), positive familial history for chromosomal abnormalities in four cases, and high risk for trisomy 21 revealed by cell-free DNA testing in three cases. Ultrasound anomalies were present in total of 94 fetuses (59.8%). The most common abnormality was cystic hygroma found in 46 cases (29.3%). A regular form of Down syndrome (trisomy 21) was found in 147 cases (93.6%), Robertsonian translocation in six cases (3.8%), and mosaic form in four cases (2.6%). 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. Copyright © 2017. Published by Elsevier B.V.

  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. 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

  2. [Diagnosis and symptom rating scale of restless legs syndrome].

    Science.gov (United States)

    Inoue, Yuichi

    2009-05-01

    Restless legs syndrome (RLS) is a sensorimotor disorder, characterized by an irresistible urge to move the legs and usually accompanied or caused by uncomfortable and unpleasant sensations. It begins or worsens during periods of rest or inactivity, is partially or totally relieved by movement and is exacerbated or occurs mainly in the evening or night. People suffering from RLS are estimated to represent 2-3% of the general Japanese population, which is relatively lower than the estimated prevalence in western countries. Supportive diagnostic critevia include family history, the presence of periodic-leg movements (PLM) when awake or asleep, and a positive response to dopaminergic treatment. RLS phenotypes include an early onset form that is usually idiopathic with frequent familial history and a late onset form that is usually secondary to other somatic conditions that are causative factors in RLS occurrence. In all patients presenting with complaints of insomnia or discomfort in the lower limbs, diagnosis of RLS should be considered. RLS should be differentiated from akathisia, which is an urge to move the whole body in the absence of uncomfortable sensations. Polysomnographic studies and the suggested immobilization test (SIT) can detect PLM in patients that are asleep or awake. RLS may cause severe sleep disturbances, poor quality of life, depressive and anxious symptoms, and may be a risk factor for cardiovascular disease. Secondary RLS may occur due to iron deficiency, end-stage renal disease, pregnancy, peripheral neuropathy and drug use including antipsychotics and antidepressants. Small fiber neuropathy can trigger RLS or mimic its symptoms. RLS is associated with many neurological disorders, including Parkinson disease and multiple system atrophy; althoughit does not predispose to these diseases. A symptom rating scale for RLS authorized by the International RLS Study Group (IRLS) would facilitate accurate diagnosis of this condition.

  3. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

    Directory of Open Access Journals (Sweden)

    Ho-Ming Luk

    2016-01-01

    Full Text Available Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses. Accurate molecular diagnosis is paramount for genetic counseling and subsequent management. Despite overlapping phenotypes between Angelman and Angelman-like Syndrome, there are some subtle but distinct features which could differentiate them clinically. It would provide important clue during the diagnostic process for clinicians.

  4. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases.

    Science.gov (United States)

    Luk, Ho-Ming

    2016-01-01

    Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses. Accurate molecular diagnosis is paramount for genetic counseling and subsequent management. Despite overlapping phenotypes between Angelman and Angelman-like Syndrome, there are some subtle but distinct features which could differentiate them clinically. It would provide important clue during the diagnostic process for clinicians.

  5. 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.

  6. 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 ...... measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD Udgivelsesdato: 2009/12...

  7. 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

  8. [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.

  9. [Mallory-Weiss syndrome: diagnosis and treatment].

    Science.gov (United States)

    Lecleire, Stéphane; Antonietti, Michel; Ducrotté, Philippe

    2010-06-01

    Mallory-Weiss syndrome is relatively common and is involved in 3 to 10% of cases of upper gastrointestinal bleeding. Most of the time, the hemorrhage is mild and stops spontaneously. Clinical suspicion requires confirmation by an upper gastrointestinal endoscopy, which must be performed rapidly after the first hematemesis. Mallory-Weiss syndrome is diagnosed when it shows a longitudinal mucosal tear at the esophagogastric junction. Patients with active bleeding or signs of recent bleeding at endoscopy need immediate endoscopic treatment for hemostasis. Band ligation seems to be the most efficient procedure for primary hemostasis and for preventing recurrent bleeding. The use of proton pump inhibitors and antiemetics seems logical in all cases, although nothing in the literature demonstrates their efficacy. Copyright 2009 Elsevier Masson SAS. All rights reserved.

  10. In utero diagnosis of caudal regression syndrome

    Directory of Open Access Journals (Sweden)

    Lindsey M. Negrete, BS

    2015-01-01

    Full Text Available We present a case of caudal regression syndrome (CRS, a relatively uncommon defect of the lower spine accompanied by a wide range of developmental abnormalities. CRS is closely associated with pregestational diabetes and is nearly 200 times more prevalent in infants of diabetic mothers (1, 2. We report a case of prenatally suspected CRS in a fetus of a nondiabetic mother and discuss how the initial neurological abnormalities found on imaging correlate with the postnatal clinical deficits.

  11. Fibromyalgia syndrome: classification, diagnosis, and treatment.

    Science.gov (United States)

    Häuser, Winfried; Eich, Wolfgang; Herrmann, Markus; Nutzinger, Detlev O; Schiltenwolf, Marcus; Henningsen, Peter

    2009-06-01

    This S3 guideline takes positions on currently contentious issues in the classification and treatment of fibromyalgia syndrome (FMS). A panel of experts from 10 specialist societies and patients belonging to 2 patient self-help organizations reviewed a total of approximately 8000 publications. Recommendations were developed according to the suggested procedure for S3 guidelines and were then reviewed and approved by the boards of the participating specialist societies. The steering committee ensured that the literature review and the recommendations were kept up to date. Because this disorder is defined by its symptoms and signs, rather than by any consistently identifiable bodily lesion, the term "fibromyalgia syndrome" is a more appropriate designation for it than "fibromyalgia." FMS is defined by the criteria of the American College of Rheumatology and is classified as a functional somatic syndrome. FMS is diagnosed from the typical constellation of symptoms and by the exclusion of inflammatory and metabolic diseases that could cause the same symptoms. A stepwise treatment approach in which the patient and the physician decide jointly on the treatment options is recommended. The most strongly recommended forms of treatment are aerobic exercise, amitriptyline, cognitive behavioral therapy, and spa therapy. The guideline recommendations are intended to promote more effective treatment of this disorder.

  12. 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.

  13. [Diagnosis and differential diagnosis of liver abscesses using contrast-enhanced (SonoVue) ultrasonography].

    Science.gov (United States)

    Fontanilla Echeveste, T; Mendo González, M; Cañas Maciá, T; Pérez Arangüena, R; Velasco Marcos, M J; Cortés León, C

    2009-01-01

    To describe the ultrasonographic findings in liver abscesses after the administration of a second generation agent. To perform the differential diagnosis of liver abscesses with other focal liver lesions. We evaluated 28 liver abscesses in 5 patients before and after the administration of SonoVue. We also evaluated liver lesions in six patients in whom the differential diagnosis with liver abscess was considered in the baseline ultrasonographic examination. A typical enhancement pattern consisting of peripheral ring enhancement in the arterial phase and absence of central enhancement was observed in 21 (75%) abscesses. In another 6 (21.4%) abscesses, arterial enhancement was seen in large areas of the lesion, while other areas showed no uptake. One case (3.6%) had a multiseptated pattern of enhancement. Segmental hepatic enhancement was observed in 6 abscesses. In the liver lesions in which the differential diagnosis with abscess was carried out, 5 of the 6 showed no enhancement in any phase. The other lesion, a cystic metastasis, had irregular peripheral enhancement in the arterial phase. None of these lesions had segmental hepatic enhancement in the arterial phase. Contrast administration improves the performance of ultrasonography in the diagnosis of liver abscesses. There are three patterns of enhancement and these correlate well with the findings at CT and MRI. Contrast-enhanced ultrasonography is very useful for defining the internal architecture of the abscess, which is important for choosing the type of treatment. Contrast-enhanced ultrasonography also enables the differential diagnosis with other focal liver lesions.

  14. Impact of copeptin on diagnosis of acute coronary syndrome

    African Journals Online (AJOL)

    Zeinab H. El Sayed

    2014-03-17

    Mar 17, 2014 ... Abstract Background: Acute coronary syndrome remains the principal cause of death, so the early diagnosis is of great importance. Cardiac troponin is the preferred biomarker for acute myo- cardial infarction. Cardiac chest pain immediately increased copeptin secretion. The combination of copeptin and ...

  15. The predictive value of syndromic approach to diagnosis of malaria ...

    African Journals Online (AJOL)

    Such patient should be treated for malaria in settings with no facility for parasitological diagnosis. However, on account of the low specificity of this syndromic approach, it is important for clinicians to examine patients properly to rule out other causes of fever such as urinary tract infection, gastrointestinal infection. Keywords: ...

  16. Impact of copeptin on diagnosis of acute coronary syndrome | El ...

    African Journals Online (AJOL)

    Background: Acute coronary syndrome remains the principal cause of death, so the early diagnosis is of great importance. Cardiac troponin is the preferred biomarker for acute myocardial infarction. Cardiac chest pain immediately increased copeptin secretion. The combination of copeptin and cardiac troponin I is being ...

  17. Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First ...

    African Journals Online (AJOL)

    Tahir M. Malla

    2015-07-14

    Jul 14, 2015 ... Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir. Tahir M. Malla, Arshad A. Pandith, Fayaz A. Dar, Mahrukh H. Zargar *. Advanced Centre for Human Genetics, Sher-i-Kashmir Institute of Medical Sciences, Srinagar 190011, India. Received 5 June 2015; accepted 18 ...

  18. Premenstrual Syndromes - An Approach to Diagnosis and Treatment

    African Journals Online (AJOL)

    Premenstrual Syndromes - An Approach to. Diagnosis and Treatment. Swart P, MBChB, MMed (O & G). Dreyer G, MBChB, MMed (O & G). Department of Obstetrics and Gynaecology, Faculty of Health Sciences, University of Pretoria. Correspondence to: Prof Greta Dreyer, E-mail: gretadreyer@mweb.co.za. Abstract. SA Fam ...

  19. The Importance of Early Diagnosis of Gardner's syndrome in Dental ...

    African Journals Online (AJOL)

    ... referred to the gastroenterology department and intestinal polyps were detected in the colon. Histopathology report revealed malignant changes in the intestinal polyps. Early colectomy, which is a life-saving operation, was possible because of our early diagnosis. Keywords: Cone-beam CT, Gardner syndrome, osteoma, ...

  20. Birt-Hogg-Dubé syndrome: characteristic CT findings differentiating it from other diffuse cystic lung diseases.

    Science.gov (United States)

    Lee, Jung Eun; Cha, Yoon Ki; Kim, Jeung Sook; Choi, Jin Ho

    2017-01-01

    Birt-Hogg-Dubé (BHD) syndrome is an uncommon, autosomal dominant, multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. Spontaneous pneumothorax and lung cysts on chest computed tomography (CT) should lead to the inclusion of BHD syndrome in the differential diagnosis, because these findings may develop earlier than other clinical manifestations. Here, we review and describe the characteristic findings of BHD syndrome. The number, shape, size, and distribution of the lung cysts can help to differentiate BHD syndrome from other diffuse cystic lung diseases. Knowledge of the chest CT findings of BHD syndrome may lead to a correct diagnosis and the initiation of an appropriate work-up in order to prevent pneumothorax and for the early detection of renal tumors.

  1. 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

  2. Pituitary macroadenoma and diaphragma sellae meningioma: differential diagnosis on MRI

    Energy Technology Data Exchange (ETDEWEB)

    Cappabianca, P.; Alfieri, A.; Maiuri, F.; Mariniello, G.; De Divitiis, E. [Istituto di Neurochirurgia, Universita` ``Federico II``, Naples (Italy); Cirillo, S.; D`Amico, A.; Caranci, F. [Department of Neuroradiology, ``Federico II`` University School of Medicine, Naples (Italy)

    1999-01-01

    Diaphragma sellae meningiomas are unusual tumours often not distinguished from pituitary macroadenomas. Preoperative differentiation is essential, because the trans-sphenoidal approach is used for surgical removal of adenomas, while meningiomas are approached via a craniotomy. We reviewed five patients in whom a diaphragma sellae meningioma was initially diagnosed as a nonsecreting pituitary macroadenoma. MRI criteria for differential diagnosis are discussed. The main findings considered are visibility of the pituitary gland, contrast enhancement, the centre of the lesion and sellar enlargement. These criteria, applied to a blind review, allow correct identification of the tumours. (orig.) (orig.) With 3 figs., 24 refs.

  3. 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

  4. 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)

  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. Body imaging in the differential diagnosis of jaundice

    Energy Technology Data Exchange (ETDEWEB)

    Kuno, N.; Endo, T.; Kasugai, T. (Aichi Cancer Center, Nagoya (Japan))

    1981-12-01

    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.

  7. Computed tomography diagnosis of cardiovascular involvement in behcet syndrome

    International Nuclear Information System (INIS)

    Zhi Aihua; Dai Ruping; Jiang Shiliang; Lu Bin; Zhang Pei

    2009-01-01

    Objective: To evaluate the computed tomography (CT) characteristics of cardiovascular involvement in Behcet syndrome. Methods: Eleven patients with clinically diagnosed Behcet syndrome were studied retrospectively from July 1995 to December 2007. Electron beam CT or 64-slice helical CT scanner was used and CT characteristics were reviewed. Results: Eleven patients were diagnosed according to the criteria reported by the international study group for Behcet syndrome. Of them, 4 patients presented with aortic valve prolapse (2 patients with mitral valve prolapse), false aneurysm of right coronary artery was demonstrated in 2 patients, false aneurysm of left subclavian artery, aortic aneurysm and penetrating ulcers, aortic arch false aneurysm, aortic dissection, pulmonary embolism and interatrial septum aneurysm in 1 case, respectively. Conclusion: CT is a very useful method for the diagnosis and follow-up of Behcet syndrome. (authors)

  8. Application of proteomics for prenatal diagnosis of Down syndrome ...

    African Journals Online (AJOL)

    use

    2011-12-14

    Dec 14, 2011 ... Subjects of the study were aneuploidies and included Down syndrome, trisomy and trisomy 13. It was publish on-line in 2010 two major groups, such as: techniques used for profiling and techniques used for differential protein detection. The most common approach for the analysis of reproduction-.

  9. Meniere's disease: Still a mystery disease with difficult differential diagnosis.

    Science.gov (United States)

    Vassiliou, A; Vlastarakos, P V; Maragoudakis, P; Candiloros, D; Nikolopoulos, T P

    2011-01-01

    One hundred and forty-six years after its first description, the differential diagnosis of Meniere's disease remains very challenging. The aim of the present study is to review the current knowledge on the advantages and disadvantages of the new diagnostic methods for Meniere's disease. The importance of accurate diagnosis for primary healthcare systems is also discussed. An extensive search of the literature was performed in Medline and other available database sources. Information from electronic links and related books were also included. Controlled clinical studies, prospective cohort studies, retrospective cohort studies, cross-sectional studies, case reports, written guidelines, systematic reviews, and books were selected. The typical clinical triad of symptoms from the vestibular and cochlear systems (recurrent vertigo, fluctuating sensorineural hearing loss and tinnitus) is usually the key for clinical diagnosis. Glycerol dehydration test and electrocochleography are the main diagnostic tests in current practice, while vestibular evoked myogenic potentials may be used in disease staging. Imagine techniques are not specific enough to set alone the diagnosis of Meniere's disease, although they may be necessary to exclude other pathologies. Recently developed 3D MRI protocols can delineate the perilymphatic/endolymphatic spaces of the inner ear and aid diagnosis. Meniere's disease is a continuous problem for the patients and affects their quality of life. Taking into account the frequent nature of the disease in certain countries, efforts for reliable diagnosis, prompt referral, and successful management are undoubtedly cost-effective for healthcare systems.

  10. 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.

  11. 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

  12. 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.

  13. Radiography of the equine thorax and its differential diagnosis relevance

    International Nuclear Information System (INIS)

    Klein, H.J.; Offeney, F.

    1990-01-01

    Commonly chronic obstructive pulmonary disease (COPD) is the cause of dyspnoe or loss of performance in the horse. Tracheobronchoscopy, cytology of tracheobronchial aspirates, interpleural pressure measurement, and arterial blood gas analysis improved diagnosis of equine respiratory disorders. Yet some intrathoraeie diseases, especially chronic pneumonia, are differential diagnosis problems. Radiography of the thorax improves the diagnosis of pneumonia and some other intrathoraeie diseases. The technique of the radiography of the thorax is described and radiographic findings in 166 horses suffering from respiratory diseases are evaluated. Theses horses showed pathologic radiographic findings caused by COPD (n =61), pneumonia (67), pleuritis (12), exercise-induced pulmonary haemorrhage (8), aspiration pneumonia (7), hydrothorax (6), pneumothorax (2), lung abseess (1); mediastinal tumor (1), and diaphragmatie hernia (1) [de

  14. 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.)

  15. [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.

  16. 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.

  17. 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.

  18. 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.

  19. THE DIAGNOSIS AND TREATMENT OF PANDAS SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    V. I. Kharitonov

    2014-01-01

    Full Text Available This paper describes a case of PANDAS in a 12-year-old girl. The unusual clinical manifestations and course of the disease as long-term sneezing attacks make the diagnosis of the syndrome difficult. Long-term video-assisted electroencephalographic monitoring, brain magnetic resonance imaging, and blood biochemical tests could define the nature of the condition. Antibiotic therapy and intravenous immunoglobulin could achieve remission. Further investigations are needed to evaluate the efficacy of antibiotics and intravenous immunoglobulin in this syndrome.

  20. Work-Related Neurogenic Thoracic Outlet Syndrome: Diagnosis and Treatment.

    Science.gov (United States)

    Franklin, Gary M

    2015-08-01

    Outcomes of surgery for neurogenic thoracic outlet syndrome (NTOS) in workers' compensation are poor in a majority of patients, partly due to nonspecificity of diagnosis. Most cases have no objective evidence of the presence of brachial plexus dysfunction. Up to 20% of patients experience a new adverse event. Objective neurologic signs and electrodiagnostic evidence of brachial plexus dysfunction must be present before proceeding with invasive procedures. This guideline includes objective criteria that must be met before thoracic outlet syndrome surgery can be approved in Washington State. Evidence does not support the use of scalene blocks, botulinum toxin therapy, or vascular studies to diagnose NTOS. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. [Diagnosis of Prader-Willi syndrome. Considerations on a case of erroneous diagnosis].

    Science.gov (United States)

    Scommegna, S; Zollino, M; Paolone, G

    2001-01-01

    Prader-Willi syndrome is a genetic disease, which is clinically characterized by neonatal hypotonia, feeding problems in the first year of life, excessive eating with severe obesity from the second year of life, developmental delay, hypogonadism, typical facial features, short stature, behaviour problems, mental retardation. It is caused by a genomic imprinting disorder, i.e., lacking expression of paternally derived genes located on the long arm of chromosome 15. We present a case of a child with a neonatal diagnosis of Prader-Willi syndrome, founded on some facial dysmorphic features and a partial deletion of 15q, which we belied thanks to an anamnestic and clinical revaluation, and a metilation test. We also present main topics about Prader-Willi syndrome diagnosis, including clinical and endocrinological features, scoring system, and genetics.

  2. The role of autofluorescence colonoscopy in diagnosis and management of solitary rectal ulcer syndrome

    Science.gov (United States)

    Latos, W.; Kawczyk-Krupka, A.; Ledwon, A.; Kosciarz-Grzesiok, A.; Misiak, A.; Sieron-Stoltny, K.; Sieron, A.

    2008-02-01

    Solitary rectal ulcer syndrome (SRUS) is a chronic disease of the rectum. Although SRUS is a benign condition there are studies which suggest that chronic ischaemia which occurs in the SRUS may lead to "transitional mucosa" that is similar to that adjacent to colorectal carcinomas and adenomas and may lead to colorectal dysplasia and carcinoma development. The exclusion of primary or metastatic malignancy is the most important aim in the differential diagnosis of SRUS. In our study we assess the possibilities of autofluorescence colonoscopy (AFC) in diagnosis and management of SRUS. We performed white light colonoscopy first. The tissue samples were taken for pathological examination. When SRUS was histopathologically confirmed AFC was performed by means of Xillix OncoLIFE. During AFC numerical colour value (NCV) of autofluorescence of SRUS lesions was noted. During 1946 colonoscopies eight persons were diagnosed as having solitary rectal ulcer syndrome. We did not observe autofluorescence increase in case of polipoid and flat ulcer lesions (NCV 0,39-0,67; mean 0,525) and little increase of autofluorescence in case of erythema lesion (NCV- 0,94). SRUS is a rare disorder of the rectum but it causes differential diagnosis problems. The most common reason for incorrect diagnosis are inadequate tissue specimens. AFC allows to reveal subtle areas within the lesions of more intense autofluorescence and localizes the potential cancer-transformating dysplasia. In this way the most representative area with highest risk of pre- or cancerous changes, for biopsy specimen is indicated.

  3. Lordosis manoeuvre in the diagnosis of lumbar facet syndrome.

    Science.gov (United States)

    Díez-Ulloa, M A; Almira Suárez, E L; Otero Fernández, M; Leborans Eiras, S; Collado Arce, G

    2016-01-01

    In lumbar pain patients an aetiopathogenic diagnosis leads to a better management. When there are alarm signs, they should be classified on an anatomical basis through anamnesis and physical examination. A significant group is of facet origin (lumbar facet syndrome [LFS]), but the precise clinical diagnosis remains cumbersome and time-consuming. In clinical practice it is observed that patients with an advanced degenerative disease do not perform extension or rotation of their lumbar spine when prompted to extend it, but rather knee flexion, making the manoeuvre meaningless. For this reason, a new simple and quick clinical test was developed for the diagnosis of lumbar facet syndrome, with a facet block-test as a confirmation. The new test is better than a classic one in the diagnosis of facet syndrome, and probably even better than imaging studies A prospective study was conducted on a series of 68 patients (01/01/2012-30/06/2013). A comparison in between: classic manoeuvre (CM), imaging diagnostics (ID), and the new lordosis manoeuvre (LM) test. Examination and block test by one author, and evaluation of results by another one. Deformity and instability. using a physical. To determine the effectiveness of a new clinical test (LM) for the diagnosis of LFS (as confirmed by a positive block-test of medial branch of dorsal ramus of the lumbar root, RMRDRL). R package software. The LM was most effective (pdiagnosis of LFS is presented that is reliable, quick, and simple. Clinical examination is more reliable than imaging test for the diagnosis of LFS. Copyright © 2016 SECOT. Published by Elsevier Espana. All rights reserved.

  4. Cri-du-chat syndrome: clinical profile and prenatal diagnosis.

    Directory of Open Access Journals (Sweden)

    Tullu M

    1998-10-01

    Full Text Available Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.

  5. 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.

  6. 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

  7. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    OpenAIRE

    Perez-Carbajo, Esther; Zapardiel, Ignacio; Sanfrutos-Llorente, Luis; Cruz-Melguizo, Sara; Martinez-Payo, Cristina; Iglesias-Goy, Enrique

    2015-01-01

    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 acho...

  8. 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.

  9. 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...... peptide (P = 0.007), elevated mean arterial blood pressure (P = 0.03), and lower plasma levels of creatinine (P = 0.002) compared to the controls. CONCLUSION: A spot urine sample seems to be sufficient to confirm the diagnosis of SIADH....

  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. [Roles of dermoscopy in the diagnosis and differential diagnosis of scalp psoriasis and seborrheic dermatitis].

    Science.gov (United States)

    Xu, Chenchen; Chen, Dian; Liu, Jie; Liu, Yuehua; Sun, Qiuning

    2014-12-02

    To describe the dermoscopic patterns of scalp psoriasis and seborrheic dermatitis and explore the roles of dermoscopy in their diagnosis and differential diagnosis. A total of 40 patients with scalp psoriasis (n = 20) and seborrheic dermatitis (n = 20) were recruited from Department of Dermatology, Peking Union Medical College Hospital from December 2013 to May 2014. They were examined both dermoscopically and histopathologically. And characteristic dermoscopic features were evaluated. Sensitivity, specificity, positive predictive value and negative predictive value were calculated for predefined dermoscopic criteria in relation to the diagnosis of two diseases. The most significant dermoscopic features of scalp psoriasis included dotted vessels (10/20, 50%), glomerular vessels (13/20, 65%), red loops (16/20, 80%), hairpin vessels (17/20, 85%), white scales (10/20, 50%) and punctate hemorrhages (12/20, 60%). In contrast, seborrheic dermatitis was characterized by arborizing vessels (16/20, 80%), atypical red vessels (13/20, 65%), featureless areas (20/20, 100%) and honeycomb pigment (9/20, 45%) (all P seborrheic dermatitis have different dermoscopic patterns. Dermoscopy may be valuable for clinical diagnosis and differential diagnosis of scalp psoriasis and seborrheic dermatitis.

  12. Equine gastric ulcer syndrome (egus: diagnosis and therapy

    Directory of Open Access Journals (Sweden)

    Mot, T.,

    2008-06-01

    Full Text Available Equine gastric ulcer syndrome is especially reported in racing horses, with a prevalence of 60-90% in adults and 25-50% in foals. The ethiology of equine gastric ulcer is polifactorial, represented by nutritional factors, stress generated by training and captivity, drugs (corticosteroids-prednisolone, dexametasone, nesteroidicanti-inflammatory drugs: flumixin-meglumine, fenilbutazone, duodenal refluence. The diagnosis is established on clinical signs and therapeutic response and it is confirmed by endoscopic exam. Therapeutically it is recommended to administer: antiacide (aluminiu hydroxide, magnesium hydroxide, inhibitors of H2 receptors(cimetidine, ranitidine, famotidine, inhibitors of protons pump (Omeprazol, Sucralphate. Diagnosis and therapeutic aspects in equine gastric ulcer syndrome are presented in this study.

  13. Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Prenatal screening with α-fetoprotein (AFP and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern pediatric surgery. This article provides an overview of maternal serum AFP screening, amniotic fluid AFP assays, amniotic fluid acetylcholinesterase immunoassays and level II ultrasound for NTDs, prenatal repair of fetal myelomeningocele, recurrence risk of NTDs, and differential diagnosis of NTDs on prenatal ultrasound.

  14. 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

  15. 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.

  16. 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)

  17. [A case of Prune Belly Syndrome. Prenatal diagnosis].

    Science.gov (United States)

    Montoya, S; Palomo Góngora, E; García, V

    1995-09-01

    Prune Belly Syndrome is a rare and complicated condition affecting the genitourinary organs and abdominal wall, it was named after the aspect of the abdomen after the bladder has been drained. In its fully developed form presents with the triad: megalocyst, abdominal muscle deficiency and cryptorchidism. We present a case of a patient with 22 weeks of gestation with ultrasonographic diagnosis of a large thoracoabdominal cyst. The delivery was by cesarean operation. We analyzed the literature.

  18. Equine gastric ulcer syndrome (egus): diagnosis and therapy

    OpenAIRE

    Mot, T.,; Sarandan, H.,; Cristina Petruse

    2008-01-01

    Equine gastric ulcer syndrome is especially reported in racing horses, with a prevalence of 60-90% in adults and 25-50% in foals. The ethiology of equine gastric ulcer is polifactorial, represented by nutritional factors, stress generated by training and captivity, drugs (corticosteroids-prednisolone, dexametasone, nesteroidicanti-inflammatory drugs: flumixin-meglumine, fenilbutazone), duodenal refluence. The diagnosis is established on clinical signs and therapeutic response and it is confir...

  19. 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.

  20. Cracked tooth syndrome. Part 1: aetiology and diagnosis.

    Science.gov (United States)

    Banerji, S; Mehta, S B; Millar, B J

    2010-05-22

    Symptomatic, incompletely fractured posterior teeth can be a great source of anxiety for both the dental patient and dental operator. For the latter, challenges associated with deriving an accurate diagnosis together with the efficient and time effective management of cases of cracked tooth syndrome are largely accountable for the aforementioned problem. The aim of this series of two articles is to provide the reader with an in-depth insight into this condition, through the undertaking of a comprehensive literature review of contemporarily available data. The first article will provide details relating to the background of cracked tooth syndrome including the epidemiology, patho-physiology, aetiology and diagnosis of the syndrome, together with a consideration of factors which may influence the prognostic outcome of teeth affected by incomplete, symptomatic fractures. The second article will focus on the immediate and intermediate management of cracked teeth, and also provide a detailed account of the application of both direct and indirect restorations and restorative techniques used respectively in the management of teeth affected by this complex syndrome.

  1. 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.

  2. Gastric schwannoma as a rare differential diagnosis of pleural effusion.

    Science.gov (United States)

    Janowitz, P; Meier, F; Reisig, J

    2002-11-01

    We report a case of solitary gastric schwannoma that initially manifested with recurrent left pleural effusion caused by an inflammatory reaction. A 75-year-old female was primarily admitted with progressive dyspnoea and left sided effusion. History as well as clinical examination, gastroscopy, computed tomography (CT) and transabdominal ultrasound of the abdomen suggested the diagnosis of a benign tumour of the stomach. The tumour was resected and a fundectomy with a security distance of 3-5 cm performed. Histological assessment revealed a large intramural schwannoma of the gastric wall, arising from the submucosal layer. There was no evidence of malignancy. During a three year follow-up the patient has not shown any evidence of relapse or pleural effusion. This is a very rare manifestation of this benign tumour, representing a rare differential diagnosis in a case of left sided pleural effusion.

  3. Oral mucosal fixed drug eruption: characteristics and differential diagnosis.

    Science.gov (United States)

    Özkaya, Esen

    2013-08-01

    Little is known about the characteristic features of oral mucosal fixed drug eruption (FDE). To present the clinical highlights and the differential diagnosis of oral mucosal FDE in a relatively large group of patients from Turkey. This was a methodological, retrospective, cross-sectional study of 61 patients with oral mucosal FDE. The causative drug was established mainly by oral provocation test. The age range of 61 patients (38 females, 23 males) was 7 to 62 years. Naproxen and cotrimoxazole were the main inducers. Fourteen patients (23%) had a solitary oral lesion predominantly located on the dorsum of the tongue, or on the hard palate, the former statistically significantly associated with cotrimoxazole. Bullous/erosive (n = 47), aphthous (n = 12), and erythematous (n = 2) morphology were observed. A considerable number of patients were referred with a prior clinical diagnosis of herpes simplex and Behçet's disease; some of them were already receiving long-term treatment with acyclovir and colchicine, respectively. The main limitation of the present study resides in its retrospective design. Isolated oral lesions, aphthous lesions, severe bullous/erosive lesions, and the absence of residual pigmentation are the main features that may cause difficulties in the differential diagnosis. It is important to differentiate dysmenorrhea-related monthly attacks of oral FDE in female patients caused by nonsteroidal anti-inflammatory drugs from menstruation-triggered attacks of herpes simplex infection, and isolated orogenital aphthous FDE from Behçet's disease, especially in countries with a high frequency of the disease in order to prevent irrelevant therapies. Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  4. 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

  5. Nephritic syndrome in adolescence – similar symptoms, different diagnosis and treatment. Two case reports

    OpenAIRE

    Beata Banaszak; Aurelia Morawiec-Knysak

    2017-01-01

    The occurrence of symptoms of nephritic syndrome in the form of oliguria, arterial hypertension, proteinuria and haematuria is routinely interpreted as acute post-infectious glomerulonephritis. The two clinically similar cases of nephritic syndrome indicate the need for a differential diagnosis in order to identify the correct condition and establish appropriate therapy. In the first case, the development of nephritic syndrome was preceded by pharyngitis that had occurred 2 weeks bef...

  6. Differential outcomes effect in children and adults with down syndrome.

    Science.gov (United States)

    Estévez, Angeles F; Fuentes, Luis J; Overmier, J Bruce; González, Carmen

    2003-03-01

    In previous studies, researchers have demonstrated that learning of symbolic relations is facilitated when a particular outcome is associated with each relation to be learned. In the present study, we extend this differential outcomes procedure to children and adults with Down syndrome who had to learn a symbolic conditional discrimination task. Participants showed a better terminal accuracy and a faster learning of the task when the alternative correct responses were each followed by unique different outcomes than when nondifferential outcomes were arranged. These findings confirm that the differential outcomes procedure can be a useful tool to ameliorate discriminative learning deficits and demonstrate the benefits of this procedure for people with Down syndrome.

  7. Teschendorf. Differential diagnosis by biomedical radiography. 6. rev. ed.

    International Nuclear Information System (INIS)

    Anacker, H.; Allgayer, B.; Bargon, G.; Duex, A.; Golder, W.; Kaick, G. van; Lackner, K.J.; Rau, W.S.; Reiser, M.; Roos, N.; Rupp, N.; Tuengerthal, S.

    1991-01-01

    A great variety of radiographic manifestations of disease of the lungs, pleura and mediastinum is presented and discussed in various chapters, primarily arranged by the radiographic signs and clinical symptoms. The criteria for an evaluation of the radiological findings, the subtle differences observable in the various pictures, and their correlation to the specific disease are discussed in great detail, leading to the required differential diagnosis. The most significant data describing a specific disease or case are compiled in tables and allow a quick orientation. The book does not refer to aspects of the pathologic anatomy, ethiology, pathogenesis, or treatment of disease. (VHE) With 596 figs., 32 tabs [de

  8. 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 (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.

  9. 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..

  10. Klinefelter syndrome: an unusual diagnosis in pediatric patients

    OpenAIRE

    Tincani, Bruna J.; Mascagni, Bruno R.; Pinto, Roberto D. P.; Guaragna-Filho, Guilherme; Castro, Carla C. T. S.; Sewaybricker, Letícia E.; Viguetti-Campos, Nilma L.; Marques-de-Faria, Antonia P.; Maciel-Guerra, Andréa T.; Guerra-Júnior, Gil

    2012-01-01

    OBJECTIVE: To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group. METHODS: The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at first visit, ratio of arm span to height, pubic hair, gynecomastia, testicular volume, luteinizing horm...

  11. [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.

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

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    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.

  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. 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)

  15. 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.

  16. Differential diagnosis of facial acne on black skin.

    Science.gov (United States)

    Poli, Florence

    2012-11-01

    The diagnosis of acne is usually easy, but there are some pitfalls to be avoided. 'Keloid acne of the neck' and beard folliculitis are not acnes in the usual sense: both are inflammatory and fibrous reactions of the hair follicles and frizzy hair; no retentional lesions, blackheads and microcysts--are visible. Gram negative folliculitis classically occurs in acneic male subjects who have undergone extensive treatment with general antibiotics or local antiseptics, but 'de novo' cases do exist. On black skin, this condition is not exceptional, it occurs in both sexes and usually takes the nodular form. The diagnosis should be considered if there is any aggravation of acne which is resistant to classic treatment, with painful nodules on the cheeks. Treatment is based on appropriate antibiotherapy for several weeks and possibly, in a second phase, on Isotretinoin. Pityrosporum folliculitis occurs mainly on the trunk. More frequent in men than in women, it is chiefly observed in subjects living in a hot, humid climate. Demodicidosis is manifested by outbreaks of papular or papulopustular lesions of the face. On black skin the principal differential diagnosis is acne. The presence of numerous parasites is necessary for diagnosis. Clinically speaking, an important sign is when the eyelids are affected. Ivermectin is effective. Acneiform dermatitis may be induced by depigmenting preparations containing powerful dermocorticoids. It is therefore important, in cases of very inflammatory acne, to look for the other clinical signs of voluntary depigmentation. In countries where it is endemic, lepromatous leprosy should be considered. Other common dermatitis may simulate acne or else be associated with it, such as eruptive hidradenoma or molluscum contagiosum. Analysis of the different elementary lesions and the absence of retentional lesions generally enable a diagnosis to be established. © 2012 The International Society of Dermatology.

  17. 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

  18. 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

  19. Cerebrocardial manifestations in patients with acute cerebral failure of different origin: differential diagnosis and therapeutic strategy (clinical observations

    Directory of Open Access Journals (Sweden)

    А. Л. Левит

    2015-10-01

    Full Text Available Neurogenic cardial dysfunction or cerebrocardial syndrome is common in patients with all types of acute cerebral failure. The association between cerebral injury and development of neurogenic cardial dysfunction in patients with stroke, cerebral tumors, meningitis, and especially in patients with acute aneurysmatic subarachnoid hemorrhages, is widely discussed in literature. Our observations have shown that in case of occurrence of cardiac dysfunction in patients with cerebral insufficiency we need to exclude true coronary heart disease, especially when local left ventricular contractility disorders have been registered in case of one-vessel disease with a high troponin level. It should be noted that the troponin level, which is considered to be the most important differential criterion of cerebrocardial syndrome, in both observed cases changed similarly and was of no value for differential diagnosis. CT perfusion might be another diagnostic criterion of cerebrocardial syndrome, as it can reveal an increase of blood flow in the diencephalic region as a manifestation of acute dysautonomy.

  20. What's new in differential diagnosis and treatment of hoarseness?

    Science.gov (United States)

    Ulis, Jeffrey M; Yanagisawa, Eiji

    2009-06-01

    To review the literature published over the past year (2008) regarding the diagnosis and management of patients with hoarseness. There has been a lack of large, controlled, prospective studies regarding diagnosis and management for dysphonic patients. High-speed digital imaging is gradually becoming a useful adjunct to stroboscopy in patients with hoarseness and aperiodicity. Presence of blood vessels in vocal fold lesions may help distinguish otherwise similar entities. Early speech therapy has been useful for patients with suspected reflux who did not respond to an initial antacid trial. Voice break analysis can help differentiate between hyperfunctional speech disorders. Fibroblast growth factor may be an effective new treatment for presbylaryngis. Bilateral botox injection has been effective and well tolerated for refractory vocal granuloma and abductor spasmodic dysphonia. Hoarseness is a frequently encountered symptom that may result from many local and systemic disease processes. Differentiating subtle vocal fold pathologies and treatment of often ill-defined disorders remains a challenge. New approaches are described in the recent literature, but further studies are required for validation.

  1. Differential diagnosis of cervical radiculopathy and superior pulmonary sulcus tumor.

    Science.gov (United States)

    Gu, Rui; Kang, Ming-Yang; Gao, Zhong-Li; Zhao, Jian-Wu; Wang, Jin-Cheng

    2012-08-01

    The result would be disastrous if the superior pulmonary sulcus tumor (Pancoast tumor) was misdiagnosed as degenerative cervical spine diseases. The aim of this study was to investigate the differential diagnosis methods of cervical radiculopathy and superior pulmonary sulcus tumor. Clinical manifestations, physical, and radiological findings of 10 patients, whose main complaints were radiating shoulder and arm pain and later were diagnosed with superior pulmonary sulcus tumor, were reviewed and compared with those of cervical radiculopathy. Superior pulmonary sulcus tumor patients have shorter mean history and fewer complaints of neck pain or limitation of neck movement. Physical examination showed almost normal cervical spine range of motion. Spurling's neck compression test was negative in all patients. Anteroposterior cervical radiographs showed the lack of pulmonary air at the top of the affected lung in all cases and first rib encroachment in one case. The diagnosis of superior pulmonary sulcus tumor can be further confirmed by CT and MRI. By the method of combination of history, physical examination, and radiological findings, superior pulmonary sulcus tumor can be efficiently differentiated from cervical radiculopathy. Normal motion range of the cervical spine, negative Spurling's neck compression test, and the lack of pulmonary air at the top of the affected lung in anteroposterior cervical radiographs should be considered as indications for further chest radiograph examinations.

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

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    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.

  3. [Scurvy. A rare differential diagnosis of rheumatic diseases].

    Science.gov (United States)

    Hofheinz, K; Ganzleben, I; Schliep, S; Wacker, J; Schett, G; Manger, B

    2016-03-01

    In December 2014 a patient presented to our clinic with the clinical symptoms of vasculitis. However, treatment with glucocorticoids did not lead to any improvement; therefore, the differential diagnostics were extended to other indications and ultimately led to the diagnosis of scurvy. This article describes the clinical picture of scurvy and its relationship to rheumatic diseases based on a clinical case and additional information from the literature. Differences and similarities with important rheumatological disease symptoms are presented. Scurvy is a rare hypovitaminosis disease which can be manifested in different forms. In addition to vasculitis the symptoms can also resemble arthritis and hemarthrosis is a typical finding. These symptoms can be accompanied by unspecific manifestations, such as muscle pain and due to impaired collagen synthesis characteristic features, such as corkscrew hair can be observed. The causal therapy of scurvy is substitution of ascorbic acid. Scurvy is a rare differential diagnosis in the context of rheumatic diseases. The indications for scurvy can be a lack of response to immunosuppressive and immunomodulatory drugs as well as individual symptoms, such as corkscrew hair.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. POEMS syndrome: 2017 Update on diagnosis, risk stratification, and management.

    Science.gov (United States)

    Dispenzieri, Angela

    2017-08-01

    POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular volume overload, and thrombocytosis. Diagnoses are often delayed because the syndrome is rare and can be mistaken for other neurologic disorders, most commonly chronic inflammatory demyelinating polyradiculoneuropathy. POEMS syndrome should be distinguished from the Castleman disease variant of POEMS syndrome, which has no clonal PCD and typically little to no peripheral neuropathy but has several of the minor diagnostic criteria for POEMS syndrome. The diagnosis of POEMS syndrome is made with 3 of the major criteria, two of which must include polyradiculoneuropathy and clonal plasma cell disorder, and at least one of the minor criteria. Because the pathogenesis of the syndrome is not well understood, risk stratification is limited to clinical phenotype rather than specific molecular markers. The number of clinical criteria is not prognostic, but the extent of the plasma cell disorder is. Those patients with an iliac crest bone marrow biopsy that does not reveal a plasma cell clone are candidates for local radiation therapy; those with a more extensive or disseminated clone will be candidates for systemic therapy RISK-ADAPTED THERAPY: For those patients with a dominant sclerotic plasmacytoma, first-line therapy is irradiation. Patients with diffuse sclerotic lesions or disseminated bone marrow involvement and for those who have progression of their disease 3-6 months after completing radiation therapy should receive systemic therapy. Corticosteroids are temporizing, but alkylators are the mainstay of treatment, either in the form of low-dose conventional therapy or high

  9. 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

    OpenAIRE

    Borja Simó Sánchez; Maria Pilar Portero Pérez; Jose Ramón Ruiz Arroyo; Jose Antonio Linares Vicente

    2011-01-01

    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 differentia...

  10. 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

  11. Gorlin-Goltz Syndrome: Diagnosis and Treatment Options

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    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.

  12. Diagnosis, therapy, and prevention of the cracked tooth syndrome.

    Science.gov (United States)

    Geurtsen, Werner; Schwarze, Thomas; Günay, Huesamettin

    2003-06-01

    Many morphologic, physical, and iatrogenic factors, such as deep grooves, pronounced intraoral temperature fluctuation, poor cavity preparation design, and wrong selection of restorative materials, may predispose posterior teeth to an incomplete fracture. The resulting cracked tooth syndrome is frequently associated with bizarre symptoms that may complicate diagnosis and can persist for many years. Epidemiologic data reveal that splits or fractures are the third most common cause of tooth loss in industrialized countries, primarily affecting maxillary molars and premolars and mandibular molars. This finding indicates that the cracked tooth syndrome is of high clinical importance. Thus, at-risk teeth should be reinforced early, for instance by castings with cusp coverage or by internal splinting with adhesive ceramic restorations.

  13. Radiological diagnosis of idiopathic massive osteolysis (Gorham-Stout-syndrome)

    International Nuclear Information System (INIS)

    Gowin, W.; Rahmanzadeh, R.; Freie Univ. Berlin

    1985-01-01

    The course of massive osteolysis in a 17-year-old patient over three years is described. Unusual features were soft-tissue involvement of the scrotum and the penis as well as arrosion bleeding from the A. iliaca ext. due to the condition. The histological and radiological findings of the author's case are described and discussed together with results from literature. Considerations of differential diagnosis are discussed under radiological aspects. (orig.) [de

  14. Еctopic ACTH syndrome: clinical picture, diagnosis, treatment

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    N S Kuznetsov

    2012-03-01

    Full Text Available Diagnosis and treatment of ectopic ACTH-syndrome currently is one of the most challenging problems among other forms of endogenous hypercorticism. This syndrome is associated with presence of extrapituitary tumors characterized with different histogenesis and localization, which produce adrenocorticotropic hormone (ACTH, or – rarely – corticotrophin-releasing hormone. In most cases the ectopic synthesis of ACTH is performed in bronchial carcinoid tumors (36–46%, oat cell cancer (18–20%, medullary thyroid cancer (3–7%, pheochromocytoma (9–23%, other sites are infrequent (pancreas, thymus, parotid gland, ovaries, uterus, prostate, colon, stomach, esophagus, etc.. Much of these tumors are aggressive and are characterized with propensity to metastasize and relapse. Currently there are few contradictory data on the comparative evaluation of the effectiveness of methods of topical diagnosis of the source of ectopic ACTH-secretion, and therefore there is an urgent need to develop an optimal and most efficient algorithm for diagnostic procedures to determine the extent of the tumor in patients with ectopic ACTH-syndrome. Indications for surgery, timing and extent of surgical intervention, the effectiveness of the operation, the causes and frequency of relapses are still discussed.The present difficulties of diagnosis, as well as the lack of a unified approach to the treatment of this disease in the complex, often lead to the progression and development of a large number of serious complications functions of up to disability, which in turn does not lead to significant improvement of quality of life. Thus further research is necessary to study of this disease

  15. 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

  16. 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.

  17. 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.

  18. 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.

  19. Published evidence relevant to the diagnosis of impingement syndrome of the shoulder.

    Science.gov (United States)

    Papadonikolakis, Anastasios; McKenna, Mark; Warme, Winston; Martin, Brook I; Matsen, Frederick A

    2011-10-05

    outcome of treatments for the specific rotator cuff diagnoses. It may be time to replace the nonspecific diagnosis of so-called impingement syndrome by using modern methods to differentiate tendinosis, partial tears, and complete tears of the rotator cuff.

  20. 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

  1. Multimodal imaging in the differential diagnosis of soft tissue calcinosis

    Directory of Open Access Journals (Sweden)

    G. Garlaschi

    2011-11-01

    Full Text Available Soft tissue calcinosis is a common radiographic finding, which may be related to different types of pathological processes. Multimodality imaging, combined with analysis of clinical and laboratory data, plays an important role for the differential diagnosis of these conditions. Conventional radiography is considered the first line approach to soft tissue calcinosis; CT and MRI may provide further information to better characterize calcified deposits. Imaging may help to distinguish metabolic calcification, such as primary tumoral calcinosis and the secondary one (associated with acquired disorders of calcium or phosphate regulation, from dystrophic calcification, which is associated to normal blood values of phosphate. The sedimentation sign typical of tumoral calcinosis has been demonstrated by plain film radiography, CT, MRI, and, more recently, by ultrasonography. Other types of soft tissue calcinosis may have a degenerative, metaplastic or neoplastic origin, and their characterization strongly relies on multimodality imaging.

  2. An Unusual Differential Diagnosis of Orbital Cavernous Hemangioma: Ancient Schwannoma

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    Sara Filipa Teixeira Ribeiro

    2017-05-01

    Full Text Available Schwannomas are rare lesions of the orbit that can be confused with cavernous hemangioma on imaging studies. We report the case of an 84-year-old woman with a 9-year history of a tumoral lesion in the inferolateral left orbit. The imaging studies did not reveal specific characteristics, only bone remodeling due to the long evolution of the tumor. The patient underwent complete excision of the tumor by anterior orbitotomy via the inferior conjunctival fornix. The histopathological examination revealed an ancient schwannoma, a variant of schwannoma with uncommon histological features. The follow-up was uneventful. The present case emphasizes the importance of considering neural tumors in the differential diagnosis of orbital masses with bone changes and degenerative alterations such as hemorrhagic areas, cysts, and/or calcifications.

  3. Differential Diagnoses of Restless Legs Syndrome/Willis-Ekbom Disease: Mimics and Comorbidities.

    Science.gov (United States)

    Chokroverty, Sudhansu

    2015-09-01

    Restless legs syndrome (RLS) mimics cannot always be differentiated from RLS/Willis-Ekbom disease (WED) based on 4 essential criteria; hence, a fifth criterion has recently been established. RLS comorbidities may provide us important clues for understanding the neurobiology of RLS/WED. Iron-dopamine connection, hypoxia pathway activation, and dopamine-opioid interaction are important pathophysiological mechanisms in RLS; this knowledge is derived from our understanding of RLS associations with a variety of medical, neurologic, and other conditions. Clinicians must formulate an RLS differential diagnosis based on history and physical examination, but laboratory tests may sometimes be needed to arrive at a correct diagnosis. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Diagnosis and treatment of the pelvic congestion syndrome.

    Science.gov (United States)

    O'Brien, Marlene T; Gillespie, David L

    2015-01-01

    Chronic pelvic pain accounts for up to 30% of outpatient gynecologic visits in the United States, potentially affecting up to 40% of the female population during their lifetime. Pelvic congestion syndrome (PCS) is defined as chronic pelvic pain resulting from reflux or obstruction of the gonadal, gluteal, or periuterine veins, sometimes associated with perineal or vulvar varices. It can also be caused by compression of the left renal vein (LRV) between the superior mesenteric artery and the aorta, also known as the nutcracker syndrome. Whereas PCS accounts for up to 30% of patients presenting with chronic pelvic pain, it is frequently underdiagnosed. We reviewed the literature to investigate the current state of the diagnosis and treatment of this disorder. An online database search was performed with MEDLINE. MeSH headings included PCS, chronic pelvic pain, ovarian vein reflux, nutcracker syndrome, renal vein obstruction, pelvic varicosities, labial varicosities, embolization, treatment, and therapies. Our MEDLINE search revealed more than 3756 references to chronic pelvic pain. Specific references to PCS, pelvic chronic pain, ovarian vein reflux, nutcracker syndrome, renal vein obstruction, pelvic varicosities, labial varicosities, embolization, treatment, and therapies, however, included only 260 references. Thirty-seven references were small series including fewer than 50 patients or individual case reports documenting medical, surgical, or endovascular treatment of PCS. The majority of these papers demonstrated successful treatment of symptoms from PCS with embolization of one or both ovarian veins in addition to treatment of refluxing internal iliac vein branches. In addition, open surgery and, more recently, endovascular stenting of LRV obstruction have shown some promise in alleviating symptoms attributed to nutcracker syndrome. Diagnosis of PCS requires a careful history, physical examination, and noninvasive imaging. Several large case series have

  5. 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.

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

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    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.

  7. 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.)

  8. 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.

  9. [Differential diagnosis and management of intramuscular myxomas: A review of our experience].

    Science.gov (United States)

    Granel-Villach, Laura; Alcalde-Sánchez, Miguel; Salvador-Marín, Manuel; García-Calvo, Rafael; Santonja-López, Nuria; Salvador-Sanchís, José Luis

    Intramuscular myxoma is a rare benign soft tissue tumour of mesenchymal origin, which appears as a painless mass of slow growth. Early diagnosis is important in order to differentiate it from other entities, especially soft tissue sarcoma. Two cases, both women with a mean age of 52.5 years (range 40-65) are presented. The first was seen due to growth of a gluteal mass, and the second by coccydynia. Computed tomography and nuclear magnetic resonance were the diagnostic tests of choice. In one case, where there was a single but large lesion, radical extirpation of the gluteal muscle was chosen. In the other case, in which the lesions were multiple, individualised excision of cysts was performed. Postoperative functional limitation was low in both types of surgery, with good oncological results being obtained. Intramuscular myxomas are benign lesions. There are no cases of malignancy or recurrence due to incomplete resection. It has to be determined whether they are single or multiple, since in the latter case, they could be due to syndromes such as Mazabraud syndrome, which is associated with bone fibrous dysplasia, or Albright syndrome that is also associated with pigmented skin spots. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  10. 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.

  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. Differential diagnosis of pelvic masses by gray-scale sonography

    International Nuclear Information System (INIS)

    Ha, Young Soo; Lee, Jeon Kee; Lee, Joong Suk; Choi, Han Yong; Kim, Bong Kee

    1984-01-01

    Ultrasonography is a safe, nonivasive examination which should be the first procedure in the workup of a patient with a definite or suspected pelvic mass. The diagnostic schemes were derived from correlating the sonographic features with histomorphology in 230 surgically proven pelvic masses. Besides separating pelvic masses into the conventional categories of cystic, complex and solid, grayscale sonographic features of a pelvic mass can be used to subcategorized these masses into a more useful differential diagnosis. The results are as follows: 1. The most characteristic finding of uterine mynoma was midly to mederately echogenic uterine enlargement (90.7%) with a lobulated uterine margin (62.8%), and often less echogenic than the normal uterine echoes. 2. The typical ultrasonographic finding of H-mole was uterine enlargement with multiple small vesicular patterns of intrauterine contents (93%). 3. This most frequent finding of cystic teratoma was cystic mass with echogenic foci (48%), but the echogenic appearance of the lesions was extremely variable. 4. The ultrasonographic findings of ectopic pregnancy were adnexal mass (complex or cystic), decidual proliferation of the uterus, enlargement of uterine size, fluid in cul-de-sac, deveiation of uterus by adnexal mass, and pseudointrauterine appearance. 5. Ultrasound provided information leading to the correct diagnosis in 57% of cases, contributory data in 21.3%, and non-specific information in 10.4%. Errors occured in 3.9% and false -negative in 7.4%

  13. Utility of Shear Wave Elastography for Differentiating Biliary Atresia From Infantile Hepatitis Syndrome.

    Science.gov (United States)

    Wang, Xiaoman; Qian, Linxue; Jia, Liqun; Bellah, Richard; Wang, Ning; Xin, Yue; Liu, Qinglin

    2016-07-01

    The purpose of this study was to investigate the potential utility of shear wave elastography (SWE) for diagnosis of biliary atresia and for differentiating biliary atresia from infantile hepatitis syndrome by measuring liver stiffness. Thirty-eight patients with biliary atresia and 17 patients with infantile hepatitis syndrome were included, along with 31 healthy control infants. The 3 groups underwent SWE. The hepatic tissue of each patient with biliary atresia had been surgically biopsied. Statistical analyses for mean values of the 3 groups were performed. Optimum cutoff values using SWE for differentiation between the biliary atresia and control groups were calculated by a receiver operating characteristic (ROC) analysis. The mean SWE values ± SD for the 3 groups were as follows: biliary atresia group, 20.46 ± 10.19 kPa; infantile hepatitis syndrome group, 6.29 ± 0.99 kPa; and control group, 6.41 ± 1.08 kPa. The mean SWE value for the biliary atresia group was higher than the values for the control and infantile hepatitis syndrome groups (P syndrome groups were not statistically different. The ROC analysis showed a cutoff value of 8.68 kPa for differentiation between the biliary atresia and control groups. The area under the ROC curve was 0.997, with sensitivity of 97.4%, specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 96.9%. Correlation analysis suggested a positive correlation between SWE values and age for patients with biliary atresia, with a Pearson correlation coefficient of 0.463 (P syndrome.

  14. [Differential diagnostics of peripheral vestibular and brainstem-cerebellar syndrome].

    Science.gov (United States)

    Likhachev, S A; Tarasevich, N M

    2013-01-01

    The objective of the present study was to develop criteria for differential diagnostics of peripheral vestibular and brainstem-cerebellar syndrome based on the analysis of characteristics of evoked vestibular myogenic potentials. A total of 59 patients presenting with unilateral peripheral vestibular syndrome (PVS), 60 patients with demyelinizing disease of CNS, and 20 healthy subjects were available for the examination by the method of evoked vestibular myogenic potentials. The values of representativity and latency parameters PI, N1, PINI and amplitude parameters PI, NI, PINI were obtained. It was shown that latency PI in the patients with demyelinizing disease of CNS is higher than in those with PVS.

  15. Liver biopsy interpretation in the differential diagnosis of autoimmune liver disease in children

    Directory of Open Access Journals (Sweden)

    Clara Gerosa

    2013-06-01

    Full Text Available Autoimmune liver disease  (AILD represents a group of complex inflammatory liver diseases, all characterized by an aberrant autoreactivity against hepatocytes and/or biliary structures. AILD may be subclassified into four major diseases: autoimmune hepatitis (AIH, primary biliary cirrhosis (PBC, primary sclerosing cholangitis (PSC, and autoimmune cholangitis (AIC. Recently a new entity frequently associated with autoimmune pancreatitis and defined IgG4-related cholangitis (IgG4-RC,  has been added to the spectrum of AILD. The most frequent autoimmune liver diseases  of the AILD spectrum occurring in children and in young adults are  AIH  and PSC, overlap syndrome between AIH and PSC, also defined as autoimmune sclerosing cholangitis (ASC, representing a frequent finding in pediatric patients. Here,  the morphological findings that may help liver pathologists in the differential diagnosis of AILD in pediatric patients are reviewed, underlying the frequency in liver biopsy interpretation of complex cases in which a precise diagnosis may remain controversial, due to overlap of hepatocytic and bile duct cell lesions. Among the multiple morphological changes typical of AILD,  the detection of an high number of plasma cell clusters in the portal and periportal regions is generally considered one of the main clue for the diagnosis of AIH. The recent report in a 13-year old  boy of IgG4-associated cholangitis, induces  pathologists when detecting a huge number of plasmacells, to consider the differential diagnosis between AIH and IgG4-RC.Proceedings of the 9th International Workshop on Neonatology · Cagliari (Italy · October 23rd-26th, 2013 · Learned lessons, changing practice and cutting-edge research

  16. 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

  17. Hypersexuality in inpatient children and adolescents: recognition, differential diagnosis, and evaluation.

    Science.gov (United States)

    El-Gabalawi, Fayez; Johnson, Robert Arnold

    2007-11-01

    We describe a 17-year-old girl with hypersexuality resulting from virilization, the latter a consequence of polycystic ovary syndrome, and we review the literature pertinent to hypersexuality in children and adults. Inappropriate sexual behavior (a common cause of disruption among children who are hospitalized for psychiatric disorders) may be caused either by hypersexuality or by simply ill-regulated behavior: a definition of hypersexuality is proposed that can be applied at the bedside (namely, sexual behaviors or fantasies that have abruptly increased in frequency by comparison with a previous baseline, are of sufficient excessiveness to disrupt expected or usual social, academic, or occupational functioning, or constitute a source of distress), so that this distinction can be made promptly, and we present a differential diagnosis for hypersexuality to direct its evaluation. Virilization does not seem to be a common cause of hypersexuality in children and adolescents, but it should not be overlooked when it does exist. The differential diagnosis of hypersexuality in adults, which we present for comparison, is much larger than it is in children.

  18. 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.)

  19. [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.

  20. The lung in systemic vasculitis: radiological patterns and differential diagnosis

    Science.gov (United States)

    Mantini, Cesare; Sperandeo, Marco; Galluzzo, Michele; Belcaro, Giovanni; Tartaro, Armando; Cotroneo, Antonio R

    2016-01-01

    The respiratory system may be involved in all systemic vasculitides, although with a variable frequency. The aim of our review is to describe radiographic and high-resolution CT (HRCT) findings of pulmonary vasculitides and to correlate radiological findings with pathological results. Lung disease is a common feature of antineutrophil cytoplasmic autoantibody-associated small-vessel vasculitides, including granulomatosis with polyangiitis (Wegener's), eosinophilic granulomatosis with polyangiitis (Churg–Strauss) and microscopic polyangiitis. Pulmonary involvement is less frequent in immune-complex-mediated small-vessel vasculitides, such as Behçet's disease and Goodpasture's syndrome. Pulmonary involvement associated to large-vessel (gigantocellular arteritis and Takayasu's disease) or medium-vessel (nodose polyarteritis and Kawasaki's disease) vasculitides is extremely rare. The present review describes the main clinical and radiological features of pulmonary vasculitides with major purpose to correlate HRCT findings (solitary or multiple nodules, cavitary lesions, micronodules with centrilobular or peribronchial distribution, airspace consolidations, “crazy paving”, tracheobronchial involvement, interstitial disease) with pathological results paying particular attention to the description of acute life-threatening manifestations. A thorough medical history, careful clinical examination and the knowledge of radiological patterns are mandatory for a correct and early diagnosis. PMID:26876879

  1. 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

  2. Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation

    Directory of Open Access Journals (Sweden)

    Monica Castro Varela

    2002-01-01

    Full Text Available Seventy-two patients with clinical diagnoses of Prader-Willi (PWS; n = 28 patients or Angelman syndromes (AS; n = 44 patients were submitted to chromosome analysis, SNRPN-SNURF exon 1 methylation assay, and microsatellite genotyping. Analysis of the methylation pattern confirmed the PWS diagnosis in 18 out of 28 patients and the AS diagnosis in 20 out of 44 patients. FISH and microsatellite analysis detected a deletion in 30 patients (14 PWS and 16 AS. Eight patients had normal FISH results (4 PWS and 4 AS; microsatellite markers showed that these patients had a uniparental disomy (UPD. Based on this study, we propose a strategy for the routine diagnosis of these syndromes that consists of the following steps: 1 methylation analysis, which does not require parental samples; 2 microsatellite genotyping of patient and parents to differentiate deletions, UPD and imprinting mutations; and 3 FISH for otherwise uninformative cases, and whenever parental samples are not available. Of the 34 patients whose PWS or AS diagnoses were not confirmed by laboratory tests, five presented a small extra marker chromosome, identified in three of them as an inv dup(15. One AS patient carried a balanced t(15;15 translocation associated with paternal UPD. Therefore G-banded chromosome analysis should be performed on all such patients, to detect possible structural rearrangements.

  3. 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)

  4. The Clinical Differentiation of Cerebellar Infarction from Common Vertigo Syndromes

    Directory of Open Access Journals (Sweden)

    Nelson, James A

    2009-11-01

    Full Text Available This article summarizes the emergency department approach to diagnosing cerebellar infarction in the patient presenting with vertigo. Vertigo is defined and identification of a vertigo syndrome is discussed. The differentiation of common vertigo syndromes such as benign paroxysmal positional vertigo, Meniere’s disease, migrainous vertigo, and vestibular neuritis is summarized. Confirmation of a peripheral vertigo syndrome substantially lowers the likelihood of cerebellar infarction, as do indicators of a peripheral disorder such as an abnormal head impulse test. Approximately 10% of patients with cerebellar infarction present with vertigo and no localizing neurologic deficits. The majority of these may have other signs of central vertigo, specifically direction-changing nystagmus and severe ataxia.[West J Emerg Med. 2009;10(4:273-277.

  5. 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

  6. 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

  7. 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

  8. A research on syndrome element differentiation based on phenomenology and mathematical method.

    Science.gov (United States)

    Yan, Enliang; Song, Jialin; Liu, Chaonan; Hong, Wenxue

    2017-01-01

    As an empirical medical system independent of conventional Western medicine (CWM), over thousands of years, traditional Chinese medicine (TCM) has established its own unique method of diagnosis and treatment. The perspective of holism and system in TCM is essentially different from the view of Reductionism in CWM. With the development of modern science and technology, the restriction of reductionism is more and more prominent, and researchers begin to pay more attention to holistic thinking in TCM. Confronted with the above situation, there is an urgent need to explore the diagnosis of TCM by the techniques of modern science. To explore the feasibility of using modern science to describe and realize the diagnosis of TCM, in this paper, a method of syndrome element differentiation based on phenomenology is proposed. The proposed method is implemented by mathematical mapping, and then it is testified through analysis of 670 medical records: Based on the original mapping data between two data sets (set of syndrome elements and set of clinical manifestations), new mapping data is generated, and thus the corresponding quantitative diagnostic results are calculated and evaluated. Finally, knowledge discovery of the diagnosis results based on attribute partial-ordered structure diagram is conducted. The value order's matching results between original and new results show that the matched degree of each record is no less than 65%, while there are at least 87% records whose matched degree is more than 80%. In addition, the knowledge discoveries of new results are basically identical with the ones of original results as well. Using phenomenology to describe syndrome differentiation should be feasible, and further research on mapping relations between various sets (symptoms, formulas, drugs) of TCM should be conducted and evaluated through clinical trials in future.

  9. 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.

  10. 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.

  11. 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)

  12. 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

  13. Does Syndrome Differentiation Matter? A Meta-Analysis of Randomized Controlled Trials in Cochrane Reviews of Acupuncture.

    Science.gov (United States)

    Cao, Huijuan; Bourchier, Suzannah; Liu, Jianping

    2012-06-01

    One of the basic and important principles of Traditional Chinese Medicine theory is syndrome differentiation, which is widely utilized for individual diagnosis and in the application of acupuncture treatment. However, the impact of syndrome differentiation on therapeutic effect is unclear because of insufficient supportive clinical evidence. The aim of this study was to analyze current Cochrane Database systematic reviews of acupuncture and to evaluate differences in therapeutic effects of acupuncture treatment when syndrome differentiation is utilized, compared to when this approach is not utilized. Cochrane Database systematic reviews of acupuncture were included if the reviews had sufficient data to perform subgroup analyses by syndrome differentiation applied during acupoints' selection. Searching was conducted across all available articles of the Cochrane Library, and the search concluded in July 2011. Forty-four trials from five Cochrane reviews were included in 10 subgroup meta-analyses. Seven meta-analyses showed that there were no differences between trials using fixed acupoints prescriptions and trials using individualized treatment based on relevant symptom improvements in cases of acute stroke, depression, epilepsy, migraine, and peripheral joint osteoarthritis (OA). The remaining 3 meta-analyses showed that acupuncture with fixed prescriptions was superior to individualized acupuncture for pain relief of peripheral joint OA, compared to sham control. The available evidence showed no significant difference between acupuncture treatment with or without syndrome differentiation. Large, well-designed trials are warranted to address the use of syndrome differentiation for specific diseases or conditions in order to confirm if there are any advantages of using syndrome differentiation to achieve better therapeutic effects with acupuncture.

  14. 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.

  15. 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.

  16. 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.

  17. 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

  18. [High-frequency ultrasonography for diagnosis and differential diagnosis of acute scrotum in children].

    Science.gov (United States)

    Xu, Yun-Feng; Jiang, Hai-Yan; Hu, Hui-Yong; Wang, Hai-Rong; Geng, Tian-Xiao; Pan, Hua-Rong; Li, Xiao-Xi

    2016-11-01

    To analyze the high-frequency ultrasound image features of acute scrotum in children and explore the value of high-frequency ultrasonography in the diagnosis and differential diagnosis of the disease. This retrospective study included 256 children aged 2 days to 14 years undergoing color Doppler ultrasonography at 2 hours to 3 days after onset of acute scrotum. We analyzed the morphology, internal echo and blood supply of the testis in comparison with the clinical and pathological results. Among the 256 cases, acute testicular torsion was found in 23, of which 16 were treated by complete resection the necrotic testis and the other 7 by surgical reduction of testicular torsion. Ultrasonographically, the involved testes presented different degrees of increase or decrease in volume, with uneven internal echoes, irregular hypoechoic flakes, and testicular hydrocele. Color Doppler flow imaging (CDFI) showed significant blood flow signals around the diseased testes but none within them. Acute testicular appendix torsion was found in 116 cases, in which ultrasonography manifested nodules with round or oval abnormal echoes between the upper pole of the testis and caput epididymidis, first hypoechoic and then gradually increased, heterogeneous internally. CDFI revealed enlarged epididymides and enriched testicular blood flow but no blood flow signals in the nodules. The 103 cases of acute epididymitis were ultrasonographically characterized by varied degrees of swelling of the involved epididymis with uneven internal echoes and rich blood flow signals on CDFI. Six of the cases were diagnosed as acute orchitis, with the ultrasonographic features of testicular swelling and low but uniform internal echoes, with rich blood flow signals on CDFI. Incarcerated inguinal hernia was confirmed in 15 cases, in which ultrasonography revealed intrusion of the hernia into the obviously enlarged scrotal sac with the mesentery and intestine in it, and blood flow visible on CDFI. Acute

  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. Feline acromegaly: an essential differential diagnosis for the difficult diabetic.

    Science.gov (United States)

    Niessen, Stijn J M

    2010-01-01

    Clinicians who deal with diabetic cats can have mixed experiences. Some patients are 'textbook cases', responding very well to insulin administration; others prove to be more challenging. Recent studies have shown a significant proportion of problem diabetic cats to have underlying acromegaly (hypersomatotropism). Recognising this syndrome in these cats will be key to successfully managing the concurrent diabetes. Just like the 'normal' (non-acromegalic) diabetic cat, the acromegalic diabetic cat tends to be a middle-aged to older male neutered domestic short hair. However, with increasing case experience, this signalment may change. Most patients are insulin resistant, although this may not be the initial presenting sign. No breed predispositions have been recognised to date. There is no single diagnostic test for feline acromegaly - a confident diagnosis relies on a combination of clinical signs, feline growth hormone and insulin-like growth factor 1 levels, and intracranial imaging. Additionally, the ideal treatment protocol has yet to be established. Currently, radiotherapy is considered by many to be the best treatment; however, costs, the need for multiple anaesthetics, and the often delayed and unpredictable treatment response represent serious limitations of this modality. Previously, medical treatment has proven unsuccessful. Recent studies provide some evidence in favour of, and some against, the use of newer long-acting somatostatin analogue preparations in a proportion of acromegalic cats. Two recent studies have revealed a relatively high prevalence of acromegaly among diabetic cats. One also specifically assessed the value of hormonal tests, computed tomography and magnetic resonance imaging during the diagnostic process. Copyright 2009 ESFM and AAFP. Published by Elsevier Ltd. All rights reserved.

  1. Hidradenitis suppurativa and perianal Crohn disease: differential diagnosis.

    Science.gov (United States)

    Bassas-Vila, J; González Lama, Y

    2016-09-01

    The first description of perianal fistulas and complications in Crohn disease was made 75 years ago by Penner and Crohn. Published studies have subsequently confirmed that perianal fistulas are the most common manifestations of fistulising Crohn disease. Hidradenitis suppurativa was described in 1854 by a French surgeon, Aristide Verneuil. It is a chronic, inflammatory, recurrent and debilitating disease of the pilosebaceous follicle, that usually manifests after puberty with deep, painful and inflamed lesions in the areas of the body with apocrine glands, usually the axillary, inguinal and anogenital regions. The differential diagnosis between hidradenitis suppurativa and Crohn disease can be challenging, especially when the disease is primarily perianal. When they occur simultaneously, hidradenitis suppurativa and Crohn disease show severe phenotypes and patients can respond to anti-tumour necrosis factor therapy, although adalimumab is currently the only treatment with demonstrated efficacy in hidradenitis suppurativa and Crohn disease. In addition, there is sometimes a need for different complementary surgical procedures. Copyright © 2016 Elsevier España, S.L.U. y AEDV. All rights reserved.

  2. Menetrier's disease - radiologic differential diagnosis of giant rugal hypertrophy -

    International Nuclear Information System (INIS)

    Yang, Seoung Oh; Kim, Myung Joon; Jo, Han Gi; Cho, Chul Koo; Ro, In Woo; Park, Yong Koo

    1986-01-01

    Diffuse tremendous thickening of gastric wall caused by excessive proliferation of the mucosa of unknown cause was first described by Menetrier in 1888. The disease is highly uncommon, but the exact preoperative diagnosis is crucial because of the more excellent prognosis than other malignant lesions including gastric lymphoma and infiltrative gastric carcinoma. The authors recently experienced a case of Menetrier's disease which had been diagnosed as gastric lymphoma preoperatively. Radiologic differentiation is not impossible between this extremely rare disease and other mimicking malignant lesions, that is the reason why we introduce radiographic findings of the case by comparison with gastric lymphoma of giant rugal type and infiltrative gastric carcinoma. Typical upper G-I series findings of the case are; 1) Enlarged tortuous proximal gastric rugal folds only along the greater curvature. 2) Perpendicular lines of barium spicules trapped by apposed folds with clubbed or forked appearance. 3) Abrupt transition of the lesion to normal stomach. 4) No luminal narrowing and retained but sluggish peristalsis. Thus radiologists can diagnose Menetries's disease scrupulously based on critical application of enlarged folds pattern and extent of the lesion in association with other radiologic features and clinical history of fairly long duration. Brief review of clinical and pathologic features about Menetrier's disease is included.

  3. Pyomyositis - a differential diagnosis of malignant soft tissue tumours

    International Nuclear Information System (INIS)

    Ahrens, P.; Gross-Fengels, W.; Bovelet, K.

    1991-01-01

    The case of a seven-year-old boy with an enlarging woody-hard mass in the upper thigh is described and the related literature is reviewed. In absence of conclusive sings of inflammatory on both clinical and radiological findings a malignant soft tissue tumour was initially suspected. On operation the mass was found to contain multiple loculated abscesses, and turned out to be a subacute staphylococcal myositis (pyomyositis). Such lesions are quite common in subtropical and tropical climates, and a review of the literature indicates that the incidence of this formerly rare entity is increasing in temperature climates. A variety of factors play a role in pathogenesis, and a history of previous aspectic trauma can be found in about 50% of all cases. The most frequent location is the proximal lower limb or buttock. The clinical history and physical findings are often non-specific. Plain radiographs are non-diagnostic; ultrasound, CT and/or MRI may in some cases be equivocal and angiography sometimes is even misleading. It is important to keep this differential diagnosis in mind, especially in children. (orig.) [de

  4. Differential diagnosis of cervical malignant lymphadenopathy among Iranian patients.

    Science.gov (United States)

    Naeimi, Mohammad; Sharifi, Amin; Erfanian, Youssef; Velayati, Arash; Izadian, Shahla; Golparvar, Sadegh

    2009-03-01

    To investigate the differential diagnosis in cases referred with neck lumps suspicious to malignant nodal masses and its relation to demographic variants. Individuals who entered in this cross-sectional study conducted at the Department of Otolaryngology, Ghaem Medical Center, Mashdad, Iran from May 1995 to April 2005 were re-evaluated by history taking, physical examination and imaging studies. Fine needle aspiration was applied to obtain tissue sampling. Among the patients, 232 cases had malignant disease confirmed by pathology reports. Cases with unknown primary tumor underwent investigations including pan-endoscopy, and further imaging studies were carried out to determine the primary tumor site. Demographic data as gender, age, location, size, and pathology of tumor were considered. The results of this study showed that 50% of patients which were referred with neck masses had malignant neoplasm. The most common pathology in patients younger than 40 years were lymphoma (55%) and thyroid cancer (26%), whereas, in patients older than 40 years squamous cell carcinoma (67%) was more common. The most involved lymph nodes were jugulodigastric chain. Larynx and hypopharynx are the most common sources of aerodigestive tract metastatic. According to high incidence malignancy (50%) among neck lesions, an asymmetrical neck mass in adults should be considered malignant until proven otherwise. It seems that age is an important predictor of tumor pathology, and determination of further diagnostic investigations would be helpful.

  5. 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

  6. 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.

  7. The "Not Guilty Verdict": Psychological Reactions to a Diagnosis of Asperger Syndrome in Adulthood

    Science.gov (United States)

    Punshon, C.; Skirrow, P.; Murphy, G.

    2009-01-01

    Asperger syndrome is a relatively new diagnostic classification. A number of factors make receiving a diagnosis of Asperger syndrome in adulthood a unique experience. This study used a phenomenological approach to examine the experiences of 10 adults receiving such a diagnosis. Results suggested that six major themes were associated with receiving…

  8. 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

  9. 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.

  10. Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient.

    Science.gov (United States)

    Gama, Ivo; Almeida, Leonor

    2017-01-30

    A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Significant clinical and perimetric improvements were noted after surgery and the follow-up did not reveal recurrences of the tumour. LDD is an extremely rare differential diagnosis of posterior fossa tumours. LDD and the history of thyroid carcinoma permitted us to diagnose Cowden syndrome (CS). We present a clinical case that supports the possibility of performing a preoperative diagnosis of LDD based on MRI features. We review the diagnosis and management of LDD and CS. This report highlights the importance of excluding CS after LDD diagnosis, of monitoring the optic nerve postoperatively using optical coherence tomography and of prompt treatment that can potentially prevent visual function loss. 2017 BMJ Publishing Group Ltd.

  11. Differentiating Aging Among Adults With Down Syndrome and Comorbid Dementia or Psychopathology.

    Science.gov (United States)

    Esbensen, Anna J; Johnson, Emily Boshkoff; Amaral, Joseph L; Tan, Christine M; Macks, Ryan

    2016-01-01

    Differences were examined between three groups of adults with Down syndrome in their behavioral presentation, social life/activities, health, and support needs. We compared those with comorbid dementia, with comorbid psychopathology, and with no comorbid conditions. Adults with comorbid dementia were more likely to be older, have lower functional abilities, have worse health and more health conditions, and need more support in self-care. Adults with comorbid psychopathology were more likely to exhibit more behavior problems and to be living at home with their families. Adults with no comorbidities were most likely to be involved in community employment. Differences in behavioral presentation can help facilitate clinical diagnoses in aging in Down syndrome, and implications for differential diagnosis and service supports are discussed.

  12. Sawyer Syndrome Coexisting with Gonadoblastoma and Dysgerminoma, Delayed Diagnosis

    Directory of Open Access Journals (Sweden)

    zohreh yousefiu

    2016-06-01

    Full Text Available Introduction: Sawyer   syndrome characterized by the presence   sexual abnormality , gonadal disgenesis. The current practice is to proceed to a gonadectomy once the diagnosis due to due to the fact that the  risk   malignant transformation entirely in dysgenetic gonad.  Case   report: We present a case of Sawyer   syndrome  who  referred to the department of gynecology   oncology at Ghaem Hospital, Mashhad University, Iran in 2015 for evaluation of abdomino- pelvic distention.  She was a 18-year-old female with 46, XY karyotype and   poor secondary sexual characters  ,she suffered of abdominal  pain , multiple abdomino- pelvic  mass. Surgical excision of the mass along with bilateral salpingophorectomy  revealed   gonadoblastoma  in one gonad and dysgerminoma in the second one.  After combination chemotherapy she was under fallow-up. Conclusion: This case is presented because of its  could excellent prognosis if   not  missed opportunities in early recognizing  and  furthermore  adequate  treated with gonadectomy.

  13. 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.

  14. 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

  15. The not guilty verdict: psychological reactions to a diagnosis of Asperger syndrome in adulthood.

    Science.gov (United States)

    Punshon, Clare; Skirrow, Paul; Murphy, Glynis

    2009-05-01

    Asperger syndrome is a relatively new diagnostic classification. A number of factors make receiving a diagnosis of Asperger syndrome in adulthood a unique experience. This study used a phenomenological approach to examine the experiences of 10 adults receiving such a diagnosis. Results suggested that six major themes were associated with receiving a diagnosis of Asperger syndrome. Individuals discussed their negative life experiences and their experience of services prior to diagnosis, which led to individuals holding certain beliefs about the symptoms of Asperger syndrome. These beliefs had an effect on the formation of each individual's perceived self-identity. Participants made links between how they felt when they received the diagnosis and their current beliefs about both their ;symptoms' and themselves. Finally, participants highlighted the importance of the societal view of Asperger syndrome. The implications of these findings are reappraised in the context of previous research and the wider literature on identity formation.

  16. 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...

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

    Directory of Open Access Journals (Sweden)

    Beckman KA

    2015-12-01

    Full Text Available Kenneth A Beckman,1,2 Jodi Luchs,3,4 Mark S Milner5,6 1Comprehensive EyeCare of Central Ohio, Westerville, OH, 2The Ohio State University, Columbus, OH, 3Hofstra University School of Medicine, Hempstead, NY, 4South Shore Eye Care, Wantagh, NY, 5The Eye Center of Southern Connecticut, PC, Hamden, CT, 6Yale University School of Medicine, New Haven, CT, USA Abstract: 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 non-specific 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

  18. Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management.

    Science.gov (United States)

    Voutetakis, Antonis; Sertedaki, Amalia; Dacou-Voutetakis, Catherine

    2016-08-01

    Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset. In this review, recent advances with respect to the cause of PSIS, clinical characteristics leading to earlier diagnosis, and management are outlined. Diagnosis of PSIS is often delayed probably because clinical findings such as neonatal hypoglycemia, cholestasis, and/or micropenis as well as decreasing growth velocity are not appropriately and timely validated. Recently, molecular defects in various genes have been associated with PSIS albeit in a small number of cases. These findings suggest that PSIS belongs to the spectrum of holoprosencephaly-related defects. Phenotype-genotype discordance and the existence of asymptomatic carriers of a given molecular aberration indicate that penetrance may be modified favorably or unfavorably by the presence of other genetic and/or environmental factors. PSIS constitutes an antenatal anatomical defect. Neonatal hypoglycemia, cholestasis, and/or micropenis with or without growth deficit should raise the possibility of combined pituitary hormone deficiency, a life-threatening condition in cases of coexisting cortisol deficiency. It is important to search for molecular defects in all PSIS cases, as precise identification of the cause is a prerequisite for genetic counseling.

  19. Desquamative inflammatory vaginitis: differential diagnosis and alternate diagnostic criteria.

    Science.gov (United States)

    Bradford, Jennifer; Fischer, Gayle

    2010-10-01

    To describe alternate diagnostic protocols and describe the differential diagnosis for desquamative inflammatory vaginitis (DIV). One hundred one cases of DIV were audited retrospectively. All patients were seen exclusively by the authors in their private practices using diagnostic criteria applicable to local practice limitations. Other potential etiologies (infection, contact irritant vaginitis, fixed drug eruptions, immunobullous diseases, estrogen hypersensitivity vulvovaginitis, and graft-vs-host disease) were excluded by history, examination, and focused trials of treatment. Historical triggers in the study cohort and a control group of 75 women with lichen planus also drawn from the authors' private practice were compared. Patients were treated with 4 to 6 weeks of topical vaginal antibiotics, 94% with clindamycin, and response to treatment was recorded at subsequent follow-up. All patients were white. Of 101 patients, 57 (56%) had historical triggers, most frequently diarrhea or antibiotic treatment. Of the 75 women in the control group with vaginal lichen planus, 11 had historical triggers (15%, p treatment. Of this group, 10 patients who had triggers for their vaginitis, which were ongoing, were cured when their triggers were finally controlled or cured, leaving 35 patients who required long-term maintenance therapy. Desquamative inflammatory vaginitis seems to be a distinct entity of vaginitis that, in an office setting, can be distinguished from other diagnostic possibilities by careful clinical evaluation and focused trials of treatment. The majority of women responded promptly to intravaginal antibiotics, with approximately 35% of cases requiring maintenance therapy. More than half the cases have an historical trigger. We postulate that DIV occurs when a trigger causes shifts in vaginal homeostasis, resulting in an inflammatory response associated with increased epithelial cell turnover.

  20. Prevalence of metabolic syndrome diagnosis in patients with obstructive sleep apnoea syndrome according to adopted definition.

    Science.gov (United States)

    Kumor, Marta; Bielicki, Piotr; Barnaś, Małgorzata; Przybyłowski, Tadeusz; Zieliński, Jan; Chazan, Ryszarda

    2013-01-01

    Metabolic syndrome (MS), which is connected with enlarged cardiovascular risk, is common in patients with OSAS. The aim of the study was to estimate the prevalence of MS in patients with OSAS according to two definitions of MS (criteria from NCEP-ATP III from 2001 versus criteria from IDF 2005). Materials consisted of 155 males and 18 females with OSAS (mean AHI 44 ± 22 h-1), obesity (BMI 31.8 ± 5.0 kg/m2), aged 53.9 ± 9.3 years (mean ± SD). Serum lipids, glucose, body mass index (BMI), waist circumference (WC) and waist-to-hip ratio (WHR) were measured in all patients. According to first definition (NCEP - ATP III from 2001), MS was diagnosed in 98 patients (56% of the whole group - MS1 group) compared to 120 patients (69% of the whole group - MS2 group) diagnosed according to the second definition (IDF from 2005), p definition from 2005 of metabolic syndrome indeed increases the frequency of diagnosis of metabolic syndrome in patients with OSAS. We did not observe essential clinical correlation among the degree of OSAS severity and recognition of metabolic syndrome in the MS1 or in the MS2 group.

  1. Clinical Applications of Hemolytic Markers in the Differential Diagnosis and Management of Hemolytic Anemia.

    Science.gov (United States)

    Barcellini, W; Fattizzo, B

    2015-01-01

    Several hemolytic markers are available to guide the differential diagnosis and to monitor treatment of hemolytic conditions. They include increased reticulocytes, an indicator of marrow compensatory response, elevated lactate dehydrogenase, a marker of intravascular hemolysis, reduced haptoglobin, and unconjugated hyperbilirubinemia. The direct antiglobulin test is the cornerstone of autoimmune forms, and blood smear examination is fundamental in the diagnosis of congenital membrane defects and thrombotic microangiopathies. Marked increase of lactate dehydrogenase and hemosiderinuria are typical of intravascular hemolysis, as observed in paroxysmal nocturnal hemoglobinuria, and hyperferritinemia is associated with chronic hemolysis. Prosthetic valve replacement and stenting are also associated with intravascular and chronic hemolysis. Compensatory reticulocytosis may be inadequate/absent in case of marrow involvement, iron/vitamin deficiency, infections, or autoimmune reaction against bone marrow-precursors. Reticulocytopenia occurs in 20-40% of autoimmune hemolytic anemia cases and is a poor prognostic factor. Increased reticulocytes, lactate dehydrogenase, and bilirubin, as well as reduced haptoglobin, are observed in conditions other than hemolysis that may confound the clinical picture. Hemoglobin defines the clinical severity of hemolysis, and thrombocytopenia suggests a possible thrombotic microangiopathy or Evans' syndrome. A comprehensive clinical and laboratory evaluation is advisable for a correct diagnostic and therapeutic workup of the different hemolytic conditions.

  2. 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.

  3. 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.

  4. Can EEG Differentiate Among Syndromes in Genetic Generalized Epilepsy?

    Science.gov (United States)

    Seneviratne, Udaya; Hepworth, Graham; Cook, Mark; DʼSouza, Wendyl

    2017-05-01

    To evaluate EEG differences among syndromes in genetic generalized epilepsy based on quantified data. Twenty-four-hour ambulatory EEGs were recorded in consecutive patients diagnosed with genetic generalized epilepsy. All epileptiform EEG abnormalities were quantified into density scores (total duration of epileptiform discharges per hour). One-way analysis of variance was conducted to find out differences in EEG density scores among the syndromes. Generalized linear mixed models were also fitted to explore the association between the proportion of "pure" generalized spike-wave paroxysms and fragments (without intervening polyspikes/polyspike-waves) and the syndromes. In total, 6,923 epileptiform discharges were analyzed from 105 abnormal EEGs. In the analysis of variance, six EEG variables were significantly different among syndromes: total spike density (P = 0.001), total polyspike and polyspike-wave density (P = 0.049), generalized spike-wave-only density (P paroxysm density (P paroxysm duration mean (P = 0.018), and generalized paroxysm duration maximum (P = 0.009). The density of epileptiform discharges and the paroxysm durations were the highest in juvenile absence epilepsy followed by juvenile myoclonic epilepsy, childhood absence epilepsy, and generalized epilepsy with tonic-clonic seizures only. Generalized linear mixed models revealed that "pure" generalized spike-wave discharges (without intervening polyspikes/polyspike waves) tended to be more frequent in absence epilepsies, although the difference was not statistically significant (P = 0.21). The findings of this study suggest that the density and duration of epileptiform discharges can help differentiate among genetic generalized epilepsy syndromes.

  5. A review of sleepwalking (somnambulism): the enigma of neurophysiology and polysomnography with differential diagnosis of complex partial seizures.

    Science.gov (United States)

    Hughes, John R

    2007-12-01

    The goal of this report is to review all aspects of sleepwalking (SW), also known as somnambulism. Various factors seem to initiate SW, especially drugs, stress, and sleep deprivation. As an etiology, heredity is important, but other conditions include thyrotoxicosis, stress, and herpes simplex encephalitis. Psychological characteristics of sleepwalkers often include aggression, anxiety, panic disorder, and hysteria. Polysomnographic characteristics emphasize abnormal deep sleep associated with arousal and slow wave sleep fragmentation. In the differential diagnosis, the EEG is important to properly identify a seizure disorder, rather than SW. Associated disorders are Tourette's syndrome, sleep-disordered breathing, and migraine. Various kinds of treatment are discussed, as are legal considerations, especially murder during sleepwalking.

  6. 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)

  7. Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes Contribuição do estudo dos cabelos com microscopia de luz polarizada ao diagnóstico diferencial das síndromes de Chédiak-Higashi and Grisceli-Prunieras

    Directory of Open Access Journals (Sweden)

    Neusa Y.S. Valente

    2006-08-01

    Full Text Available PURPOSE: To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD: Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS: Under light microscopy, hairs from Chédiak-Higashi patients presented evenly distributed, regular melanin granules, larger than those seen in normal hairs. Under polarized light microscopy, shafts exhibited a bright and polychromatic refringence appearance. In contrast, hair from Griscelli-Prunieras patients, under light microscopy, exhibited bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, shafts appeared monotonously white. CONCLUSION: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them. We provide evidence that polarized light microscopy of hair shafts, an approach that has not been previously described, aids in differentiating between these syndromes. We propose hair study by polarized light microscopy as a helpful complementary diagnostic method for differential diagnosis between CHS and GPS, especially when the more sophisticated molecular studies are not available.OBJETIVO: Estudar e comparar o aspecto dos cabelos de portadores das síndromes de Chédiak-Higashi e Griscelli-Prunieras, tanto na microscopia óptica convencional quanto com luz polarizada. MÉTODO: Cabelos de dois doentes portadores da síndrome de Chédiak-Higashi e de dois portadores da síndrome de Griscelli-Prunieras foram obtidos e estudados tanto à microscopia convencional quanto com luz polarizada. RESULTADOS: Na microscopia óptica convencional, os cabelos dos doentes portadores da síndrome de Chédiak-Higashi mostraram

  8. 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

  9. 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

  10. The ultrasonographic features of endometriomas: morphologic analysis and differential diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Mi Sung; Park, Chan Sup; Song, Soon Young; Lee, Eun Ja; Park, No Hyuck [College of Medicine, Kwandong Univ., Koyang (Korea, Republic of); Park, Cheol Min [College of Medicine, Korea Univ., Seoul (Korea, Republic of); Kim, Bo Hyun; Kim, Chan Kyo [College of Medicine, Sungkyunkwan Univ., Seoul (Korea, Republic of)

    2003-12-01

    To analyze the sonographic, morphologic, and internal echo patterns of endometriomas, and thus determine which ultrasonographic (US) findings assist diagnosis. One hundred and forty-seven eases of pathologically proven adnexal masses in 130 women were divided into three groups: group I, in which endometriomas were diagnosed at both preoperative US and surgery (true positive) (n=97); group II, in which endometriomas were misdiagnosed at preoperative US, and were confirmed after surgery to be other pathologic entities (false positive) (n=10); group III, in which other adnexal masses were misdiagnosed at preoperative US, but were proven after surgery to be endometriomas (false negative) (n=40). The US findings in these cases were retrospectively reviewed in terms of (a) morphologic type: unilocular, multiseptated, multilobulated, solid and cystic, or mixed; (b) internal echo pattern: homogeneous fine, anechoic, fine septation, or complex; (c) size; (d) wall thickness; (e) the presence or absence of septation; (f) wall nodularity; (g) echogenic wall foci; and (h) a solid area. In group I, the most common morphological type was unilocular cyst (n=63; 65%). In lesions most commonly emitted homogeneous fine echoes (n=76; 78%). In this group, most masses (86%) were less than 10 cm in diameter and the wall thickness in 65% of cases was less than 3 mm. Additionally, internal septation, wall nodularity, focal echogenic wall foci, and a solid area were observed at US. Group II, cases were pathologically confirmed as mucinous cystadenoma (n=3), mucinous cystadenoma with borderline malignancy, hemorrhagic cyst, functional cyst, endometrioid carcinoma, and hematoma. In group III, cases were misdiagnosed as cystadenoma (n=15), hemorrhagic cyst, teratoma, ovarian cancer, functional cyst and ectopic pregnancy at preoperative US. There were no significant differences in size or wall thickness between groups II and III, and group I. At US, groups II and III also showed internal

  11. Physiological basis for the etiology, diagnosis, and treatment of adrenal disorders: Cushing's syndrome, adrenal insufficiency, and congenital adrenal hyperplasia.

    Science.gov (United States)

    Raff, Hershel; Sharma, Susmeeta T; Nieman, Lynnette K

    2014-04-01

    The hypothalamic-pituitary-adrenal (HPA) axis is a classic neuroendocrine system. One of the best ways to understand the HPA axis is to appreciate its dynamics in the variety of diseases and syndromes that affect it. Excess glucocorticoid activity can be due to endogenous cortisol overproduction (spontaneous Cushing's syndrome) or exogenous glucocorticoid therapy (iatrogenic Cushing's syndrome). Endogenous Cushing's syndrome can be subdivided into ACTH-dependent and ACTH-independent, the latter of which is usually due to autonomous adrenal overproduction. The former can be due to a pituitary corticotroph tumor (usually benign) or ectopic ACTH production from tumors outside the pituitary; both of these tumor types overexpress the proopiomelanocortin gene. The converse of Cushing's syndrome is the lack of normal cortisol secretion and is usually due to adrenal destruction (primary adrenal insufficiency) or hypopituitarism (secondary adrenal insufficiency). Secondary adrenal insufficiency can also result from a rapid discontinuation of long-term, pharmacological glucocorticoid therapy because of HPA axis suppression and adrenal atrophy. Finally, mutations in the steroidogenic enzymes of the adrenal cortex can lead to congenital adrenal hyperplasia and an increase in precursor steroids, particularly androgens. When present in utero, this can lead to masculinization of a female fetus. An understanding of the dynamics of the HPA axis is necessary to master the diagnosis and differential diagnosis of pituitary-adrenal diseases. Furthermore, understanding the pathophysiology of the HPA axis gives great insight into its normal control. © 2014 American Physiological Society.

  12. Cerebral Salt-Wasting Syndrome: Diagnosis by Urine Sodium Excretion.

    Science.gov (United States)

    Arieff, Allen I; Gabbai, Ramin; Goldfine, Ira D

    2017-10-01

    Cerebral salt-wasting syndrome (CSWS) was initially described over 60 years ago in hyponatremic patients with a cerebral lesion. However, the diagnostic criteria for CSWS have not been fully established. Thus, when hyponatremia is observed in patients with CSWS, they may be misdiagnosed as having the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Thus, it is critical to differentiate between these 2 conditions because their treatments are diametrically opposed. We carried out a retrospective study of 45 patients with CSWS and compared them to 60 normonatremic control patients, and 28 patients with SIADH. All patients had their 24-hour urine volumes and sodium (Na) excretion measured. In patients with CSWS, urinary Na excretion was 394 ± 369mmol/24 hours and urinary volume was 2,603 ± 996mL/24 hours; both values significantly greater than in controls (P < 0.01). By contrast, in patients with SIADH, the urine Na excretion was only 51 ± 25mmol/24 hours and urine volume was 745 ± 298mL/24 hours; values significantly lower than in patients with CSWS (P < 0.01). CSWS was diagnosed in patients with cerebral lesion who had (1) symptomatic hyponatremia, (2) urine Na excretion 2 standard deviations above controls and (3) increased urine volume. Patients with SIADH also had symptomatic hyponatremia but, in contrast to patients with CSWS, they had decreased Na excretion and urine volume. Thus urine Na excretion and volume are very important for diagnosing the cause of hyponatremia in patients with cerebral lesions. Copyright © 2017 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  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. Neonatal Respiratory Distress Syndrome: Early Diagnosis, Prevention, and Treatment

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    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

  15. 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.

  16. 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

  17. 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.)

  18. Restless Legs Syndrome: From Pathophysiology to Clinical Diagnosis and Management

    Science.gov (United States)

    Guo, Shiyi; Huang, Jinsha; Jiang, Haiyang; Han, Chao; Li, Jie; Xu, Xiaoyun; Zhang, Guoxin; Lin, Zhicheng; Xiong, Nian; Wang, Tao

    2017-01-01

    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. PMID:28626420

  19. 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.

  20. [Fibromyalgia syndrome. Definition, classification, clinical diagnosis and prognosis].

    Science.gov (United States)

    Eich, W; Häuser, W; Arnold, B; Jäckel, W; Offenbächer, M; Petzke, F; Schiltenwolf, M; Settan, M; Sommer, C; Tölle, T; Uçeyler, N; Henningsen, P

    2012-06-01

    The scheduled update to the German S3 guidelines on fibromyalgia syndrome (FMS) by the Association of the Scientific Medical Societies ("Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften", AWMF; registration number 041/004) was planned starting in March 2011. The development of the guidelines was coordinated by the German Interdisciplinary Association for Pain Therapy ("Deutsche Interdisziplinären Vereinigung für Schmerztherapie", DIVS), 9 scientific medical societies and 2 patient self-help organizations. Eight working groups with a total of 50 members were evenly balanced in terms of gender, medical field, potential conflicts of interest and hierarchical position in the medical and scientific fields. Literature searches were performed using the Medline, PsycInfo, Scopus and Cochrane Library databases (until December 2010). The grading of the strength of the evidence followed the scheme of the Oxford Centre for Evidence-Based Medicine. The formulation and grading of recommendations was accomplished using a multi-step, formal consensus process. The guidelines were reviewed by the boards of the participating scientific medical societies. The clinical diagnosis of FMS can be established by the American College of Rheumatology (ACR) 1990 classification criteria (with tender point examination), by the modified preliminary diagnostic ACR 2010 criteria or by the diagnostic criteria of the German interdisciplinary guideline (AWMF) on FMS. The English full-text version of this article is available at SpringerLink (under "Supplemental").

  1. 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.

  2. 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

  3. 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.

  4. 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)

  5. 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.

  6. [Thoracic outlet syndrome: A case of scalene muscle hypertrophy in long-term follow-up of diagnosis of cervical discopathy].

    Science.gov (United States)

    Yürük, Damla; Özgencil, Güngör Enver; Yılmaz, Ahmet; Kocaoğlu, Merve Hayriye; Bilgin, Sırrı Sinan; Aşık, İbrahim

    2016-07-01

    Described in this article is diagnosis and treatment of mixed type of thoracic outlet syndrome (TOS) resulting from scalene muscle hypertrophy. Many diseases should be considered in the differential diagnosis to definitively diagnose this syndrome, and it is necessary to ask about activities of daily life, in addition to adding provocative tests to physical examination and examining electrophysiological and imaging results. Once diagnosed, even if complaints decrease with conservative treatment, surgery may be required. However, in patients diagnosed late, despite decrease in complaints after surgery, neurological deficit may remain.

  7. Antenatal diagnosis of Patau syndrome with previous anomalous baby

    OpenAIRE

    Keerthi Kocherla; Vasantha Kocherla

    2014-01-01

    Patau syndrome is the least common and most severe of the viable autosomal trisomies with median survival of fewer than 3 days was first identified as a cytogenetic syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. In this case report, we present antenatal imaging findings and gross foetal specimen correlation of foetus with Patau syndrome confirmed by karyotyping in third gravida who had significant previous obstetric history of gastrochisis in monochorionic and...

  8. Prenatal diagnosis of cri du chat syndrome with encephalocele.

    Science.gov (United States)

    Bakkum, Jamie N; Watson, William J; Johansen, Keith L; Brost, Brian C

    2005-10-01

    A 19-year-old primigravida was found to have an encephalocele on screening ultrasound study. Amniocentesis indicated cri du chat syndrome, 5p-. Although cri du chat syndrome has been noted in association with central nervous system malformations, encephalocele is a rare finding in this syndrome.

  9. 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..

  10. 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.

  11. 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

  12. Imaging and differential diagnosis of pediatric spinal tuberculosis

    Directory of Open Access Journals (Sweden)

    Xiao-ying Xing

    2015-03-01

    Conclusion: Pediatric spinal tuberculosis often occurs in the cervical and thoracic vertebrae with typical imaging findings. The cases with atypical manifestations should be differentiated from other diseases such as Langerhans cell histiocytosis and metastatic neoplasm.

  13. 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.

  14. DIFFERENTIAL DIAGNOSIS OF ROSACEA AND SKIN TUBERCULOSIS AS AN EXAMPLE OF A CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    M. L. Aripova

    2014-01-01

    Full Text Available In this paper for a clinical observation of a patient with rosacea, and patients with a flat form of lupus tuberculosis presented a differential clinical diagnosis of tuberculosis of the skin.

  15. Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation.

    Science.gov (United States)

    Ye, Yinghui; Luo, Yuqin; Qian, Yuli; Xu, Chenming; Jin, Fan

    2011-07-01

    To report the first case of cri du chat syndrome after preimplantation genetic diagnosis (PGD) for reciprocal translocation. Case report. In vitro fertilization center in a university affiliated hospital. A woman carrying a t(11;22)(q23;q11.2) translocation. Preimplantation genetic diagnosis was performed, and the woman became pregnant. Successful PGD for reciprocal translocation and diagnosis of Cri du chat syndrome for the baby. A male baby was born at 36 weeks' gestation. However, the baby presented with a high-pitched, cat-like cry. Cytogenetic study revealed a rare case of cri du chat syndrome associated with t(11;22)(q23;q11.2) translocation. Chromosomal abnormalities, including the rare cru du chat syndrome, may occur after fluorescent in situ hybridization-based preimplantation genetic diagnosis. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  16. 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.

  17. Asthma in elite athletes: pathogenesis, diagnosis, differential diagnoses, and treatment

    DEFF Research Database (Denmark)

    Pedersen, Lars; Elers, Jimmi; Backer, Vibeke

    2011-01-01

    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......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...

  18. 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...

  19. Expanding the differential of shoulder pain: Parsonage-Turner syndrome.

    Science.gov (United States)

    Schreiber, Adam L; Abramov, Ronnen; Fried, Guy W; Herbison, Gerald J

    2009-08-01

    A 44-year-old man was in his car when it was rear-ended in a minor motor vehicle collision, during which his right forearm contacted the steering wheel. Shortly thereafter, pain in his right shoulder developed, but initial work-up was unremarkable. His pain progressed to shoulder girdle weakness over several months and did not improve after 2.5 years. At the time of consultation, he complained of right-sided neck pain radiating to the right deltoid muscle and axilla as well as right shoulder blade pain with shoulder girdle weakness. Repeated electrodiagnostic studies revealed denervation limited to the serratus anterior and right deltoid muscles without evidence of cervical radiculopathy. He was diagnosed with Parsonage-Turner syndrome, which is a neurologic condition characterized by acute onset of shoulder and arm pain followed by weakness and sensory disturbance. The authors review patient presentation, physical examination, and work-up needed for diagnosis of this syndrome to help physicians avoid administering unnecessary tests and treatment.

  20. 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.

  1. 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

  2. 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

  3. 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)

  4. Diagnosis, controversies, and management of the syndrome of hemolysis, elevated liver enzymes, and low platelet count.

    Science.gov (United States)

    Sibai, Baha M

    2004-05-01

    Hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome has been recognized as a complication of preeclampsia-eclampsia for decades. Recognition of this syndrome in women with preeclampsia is increasing because of the frequency of blood test results that reveal unexpected thrombocytopenia or elevated liver enzymes. The diagnosis of HELLP syndrome requires the presence of hemolysis based on examination of the peripheral smear, elevated indirect bilirubin levels, or low serum haptoglobin levels in association with significant elevation in liver enzymes and a platelet count below 100,000/mm(3) after ruling out other causes of hemolysis and thrombocytopenia. The presence of this syndrome is associated with increased risk of adverse outcome for both mother and fetus. During the past 15 years, several retrospective and observational studies and a few randomized trials have been published in an attempt to refine the diagnostic criteria, to identify risk factors for adverse pregnancy outcome, and to treat women with this syndrome. Despite the voluminous literature, the diagnosis and management of this syndrome remain controversial. Recent studies suggest that some women with partial HELLP syndrome may be treated with expectant management or corticosteroid therapy. This review will emphasize the controversies surrounding the diagnosis and management of this syndrome. Recommendation for diagnosis, management, and counseling of these women is also provided based on results of recent studies and my own clinical experience.

  5. Diagnosis of Gardner syndrome using computed tomography and virtual colonoscopy: case report

    International Nuclear Information System (INIS)

    Hernandez Michel; Angel, Miguel; Cerquera, Fredy Martin

    2011-01-01

    Gardner's syndrome is an autosomal dominant disorder where patients are affected by colonic polyps, osteomas and other common characteristics. the main concern regarding the diagnosis of this pathology is that the rate of malignant transformation is 100%. We review our case report, the original description of Gardner's syndrome, its clinical symptoms and the radiological manifestations.

  6. 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.

  7. 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 ...

  8. Transesophageal echo diagnosis of perioperative unusual transient left ventricular apical ballooning syndrome

    Directory of Open Access Journals (Sweden)

    Hugo Andrés Mantilla

    2016-01-01

    Full Text Available Stress cardiomyopathy, or Takotsubo syndrome, is a widely recognized cardiac pathology with a clinical presentation similar to acute coronary syndrome and related to physical or emotional stress. Perioperatively, it is challenging to identify it given the variety of forms and scenarios in which it can present. We describe a 22-year-old patient with an atypical presentation of Takotsubo syndrome during anesthesia induction, which highlights the usefulness of transesophageal echocardiography for the initial diagnosis.

  9. 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.

  10. Differential diagnosis of cysts and cyst-like lesions of the jaw

    Energy Technology Data Exchange (ETDEWEB)

    Herzog, M.; Beyer, D.; Zanella, F.

    1985-08-01

    The difficulties in the differential diagnosis of jaw cysts are demonstrated by 10 selected case studies. Panorama radiographies are basic for radiodiagnosis, including CT, are often necessary. In general, the final diagnosis can be given after synopsis of clinical, radiographic and patho-histological findings.

  11. 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

  12. [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.

  13. 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.

  14. 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

  15. 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.

  16. 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

  17. 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…

  18. Nephritic syndrome in adolescence – similar symptoms, different diagnosis and treatment. Two case reports

    Directory of Open Access Journals (Sweden)

    Beata Banaszak

    2017-06-01

    Full Text Available The occurrence of symptoms of nephritic syndrome in the form of oliguria, arterial hypertension, proteinuria and haematuria is routinely interpreted as acute post-infectious glomerulonephritis. The two clinically similar cases of nephritic syndrome indicate the need for a differential diagnosis in order to identify the correct condition and establish appropriate therapy. In the first case, the development of nephritic syndrome was preceded by pharyngitis that had occurred 2 weeks before. A decrease in a concentration of complement components was accompanied by an increased antistreptolysin O titre. A diagnosis of acute post-streptococcal glomerulonephritis enabled the implementation of  symptomatic treatment involving diuretics and hypotensive agents. Clinical improvement was seen in the second week of treatment. In the second case, there was no correlation with an infectious episode. A decrease in a concentration of complement components was accompanied by thrombocytopenia and the presence of antinuclear antibodies. This configuration of signs necessitated renal biopsy, the results of which enabled correct diagnosis of lupus nephritis and implementation of combined immunosuppressive treatment that gave a chance for preserving renal function.

  19. Pediatric syncope: is detailed medical history the key point for differential diagnosis?

    Science.gov (United States)

    Ikiz, Mehmet Alper; Cetin, Ibrahim Ilker; Ekici, Filiz; Güven, Alev; Değerliyurt, Aydan; Köse, Gülşen

    2014-05-01

    Syncope is a transient loss of consciousness as a result of global cerebral hypoperfusion. It is generally benign but may be a sign of pathology. The purpose of this study was to analyze the frequency of syncope due to cardiac, neurocardiogenic, neurologic, situational, psychiatric, and other causes and make a differential diagnosis of syncope types according to detailed medical history and further investigations. We examined prospectively 268 children presented to pediatric polyclinics as well as cardiology and neurology departments (age range, 1-18 years) with a primary complaint of syncope for the study. Cardiac syncope was diagnosed in 12 patients, neurocardiogenic syncope in 232, neurologic syncope in 9, psychiatric syncope in 9, situational in 4, and benign paroxysmal positional vertigo in 2. The neurologic syncope group consists of patients diagnosed with epilepsy after evaluation. Eight patients in the cardiac syncope group were found to have diseases such as long QT syndrome, and the remaining patients had hypertrophic cardiomyopathy, atrioventricular nodal reentry tachycardia, ventricular tachycardia, and a second-degree heart block that can cause sudden death. In conclusion, syncope is a common problem in childhood that requires hospitalization. Because it may be the first finding of an underlying malignant cardiac or neurologic disease, clinicians must be very careful during medical evaluation. An electrocardiogram and a medical history including the details of the event, chronic diseases, and familial diseases are among the most important steps for the right diagnosis and prognosis. Instead of a routine procedure, further diagnostic workup should be directed according to medical history for high yield. Convulsive movements may be defined in all types of syncope related with cerebral hypoxia, and this may lead to a misdiagnosis of seizure by the clinician.

  20. 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)

  1. Diagnostic Accuracy of Cerebrospinal Fluid Amyloid-beta Isoforms for Early and Differential Dementia Diagnosis

    NARCIS (Netherlands)

    Struyfs, Hanne; Van Broeck, Bianca; Timmers, Maarten; Fransen, Erik; Sleegers, Kristel; Van Broeckhoven, Christine; De Deyn, Peter P.; Streffer, Johannes R.; Mercken, Marc; Engelborghs, Sebastiaan

    2015-01-01

    Background: Overlapping cerebrospinal fluid biomarkers (CSF) levels between Alzheimer's disease (AD) and non-AD patients decrease differential diagnostic accuracy of the AD core CSF biomarkers. Amyloid-beta (A beta) isoforms might improve the AD versus non-AD differential diagnosis. Objective: To

  2. 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

  3. [Depression in schizophrenia: Relationship with other symptoms, differential diagnosis, prognosis,treatment].

    Science.gov (United States)

    Stamouli, S

    2010-04-01

    The relationship between depressive symptoms and other symptom categories in schizophrenia have been studied by many authors. According to the existing studies depression in schizophrenic patients is related to the presense of positive symptoms, especifically delusions and hallucinations.As far as negative symptoms concerns it seems that there coexist with the depressive symptoms in any phase of the disease at least in a subgroup of schizophrenic patients. In addition, according to the pyramidal model of Kay, when positive and depressive symptoms coexist, they create theclinical picture of the paranoid subtype of schizophrenia. The same holds for the combination of negative and depressive symptoms, which most frequently describe the residual subtype of the disease. Extrapyramidal symptoms are side effects of antipsychotic drugs (especially the classicalones). According to the existing literature it seems that antipyramidal side effects appear more often in schizophrenic patients with depressive symptoms. The differential diagnosis of depressive symptoms in schizophrenic patients should start with the evaluation of possible presence of organiccauses like somatic disease, medication induced extrapyramidal symptoms, substance abuse. Yet, symptoms of depression need to be differentiated from the negative symptoms of schizophrenia. Psychiatric syndromes like schizoaffective disorder, bipolar disorder and depression with psychotic features need to be also considered. In this case is very important to identify accurately the duration of depressive symptoms as well as the succession of appearance of the depressive vs. psychotic symptoms. Depressive symptoms appear to be bad prognostic sign for the long-term outcome of schizophrenia, because of the increased risk for suicide but also because of the worsening of the quality of life and the general wellbeing of the schizophrenic patient. Depressive symptoms during the acute phase of the disease usually respond to

  4. Differential diagnosis of focal lesions of the kidney in CT and MRT

    International Nuclear Information System (INIS)

    Heckmann, M.; Heinrich, M.; Bautz, W.; Uder, M.; Humke, U.

    2008-01-01

    The great majority of renal masses are found incidentally as a result of the use of ultrasonography, computed tomography (CT) and magnetic resonance imaging (MRI). If ultrasonography is not diagnostic CT or MRI should be initiated to differentiate lesions of the kidney that need surgical intervention from those that do not and from those that need follow-up examinations. Cystic renal masses are characterized by using the Bosniak classification, including category IIF. In solid lesions of the kidney first non-surgical lesions as well as lymphoma, renal infarction and nephritis should be excluded. Identifying fatty components in renal lesions is very important because in angiomyolipoma they are almost always present. CT and MRI are excellent for tumor detection. Careful evaluation of imaging finding combined with the patient's history should assist the radiologist in making the proper diagnosis or recommending the appropriate treatment in most cases. This article provides a review about renal masses, the imaging methods for their evaluation and their characteristic features at CT and MR imaging. Different lesions are demonstrated like xantogranulomatous pyelonephritis, acute pyelonephritis, renal infarction, lymphoma, angiomyolipoma, renal oncocytoma, cystic lesion and polycystic disease the kidney, echinococcosis, renal cystadenoma, metastases, renal cell carcinoma (RCC), and multiple bilateral RCC in patients with Hippel-Lindau-Syndrome. This article should help to differentiate complex cystic lesions of the kidney by using the Bosniak-classification, especially Bosniak Category IIF. Solid masses should be characterized and the major question to be answered is whether the mass represents a surgical or nonsurgical lesion or if follow-up studies are necessary. (orig.)

  5. Diagnosis of Paget-Schroetter Syndrome/Primary Effort Thrombosis in a Recreational Weight Lifter.

    Science.gov (United States)

    DeLisa, Lucia C; Hensley, Craig P; Jackson, Steven

    2017-01-01

    Paget-Schroetter syndrome (PSS) is a rare condition of vein thrombosis that can be manifested in athletes and laborers who overuse their upper extremities. If diagnosed early, PSS can be managed and the symptoms can be fully reversed. Venous duplex ultrasound (US), the modality most commonly used to diagnose deep vein thrombosis (DVT), has high sensitivity and specificity for detecting DVT. This case report describes the differential diagnosis and management of PSS in a weight lifter. The patient was a 44-year-old man who had left upper extremity (UE) swelling and discoloration after performing an incline chest press 2 months earlier. He was referred to a physical therapist for the treatment of venous thoracic outlet syndrome because US imaging results were negative for DVT. The patient's signs and symptoms did not improve after 4 physical therapist treatment sessions. Repeat US revealed multiple thrombi in the patient's UE. He underwent immediate thrombolysis and subsequent first rib removal and scalenectomy. Five months after the surgical intervention, the patient had returned to work as a truck driver without limitation of UE use, although he had not yet returned to weight lifting. Despite the facts that the patient was seen by several health care providers and that multiple US images were obtained, the patient's UE DVT was not detected. It is important for a clinician to consider venous pathology in the shoulder even if the results of diagnostic US imaging performed in the presence of UE swelling and pain have been negative. Timely diagnosis and management of PSS are necessary for optimal recovery. © 2017 American Physical Therapy Association

  6. 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…

  7. Definition of restless legs syndrome, how to diagnose it, and how to differentiate it from RLS mimics.

    Science.gov (United States)

    Benes, Heike; Walters, Arthur S; Allen, Richard P; Hening, Wayne A; Kohnen, Ralf

    2007-01-01

    Restless legs syndrome (RLS) is a clinical diagnosis based primarily on self-reports of individuals. The International RLS Study Group has published diagnostic criteria that are essential for an operational diagnosis of RLS; further clinical features are considered by the group supportive for or associated with RLS. However, sensitivity and specificity are not perfect and "mimics" of RLS have been reported, i.e., other conditions like nocturnal cramps sometimes can appear to fulfill the essential diagnostic criteria indicating the need for more thorough understanding of the diagnostic criteria and better differential diagnoses. To contribute to the accuracy of diagnostic processes in RLS, we recapitulate the definition of RLS as an urge to move focused on the legs (and arms in some patients). This urge to move often but not always occurs together with dysesthesia, i.e. unpleasant abnormal sensations appearing without any apparent sensory stimulation. The urge to move and any accompanying dysesthesia must be engendered by rest, relieved by movement and worse in the evening or night. Succinctly, RLS can be summarized in medical terminology as a "movement-responsive quiescegenic nocturnal focal akathisia usually with dysesthesias." Empirical approaches to investigate the independence of the essential criteria "worsening at night" and "worsening at rest" are reported. Possible differential diagnoses of RLS are discussed under the perspective of the NIH diagnostic criteria of RLS. Standardized methods to assess a RLS diagnosis are presented which might improve differential diagnosis and in general the reliability and validity of RLS diagnosis.

  8. 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.

  9. [Difficulties in the diagnosis of diarrhea-associated hemolytic uremic syndrome in adults].

    Science.gov (United States)

    Malov, V A; Maleev, V V; Kozlovskaya, N L; Tsvetkova, N A; Smetanina, S V; Gorobchenko, A N; Serova, V V; Chentsov, V B; Volkov, A G; Faller, A P

    Hemolytic uremic syndrome (HUS) is a rare, but menacing condition registered mainly in children. The paper gives a detailed description and analysis of a clinical case of HUS with a favorable outcome in an adult woman who developed the syndrome in the presence of bloody diarrhea. It considers an update on the etiology, pathogenesis, and clinical features of HUS associated with diarrheal syndrome and discusses differential diagnostic features, diagnostic problems, and characteristics of management tactics for patients.

  10. [Differential diagnosis of treatment of episcleritis and scleritis].

    Science.gov (United States)

    Vorob'eva, O K; Razumova, I Iu; Ambartsumian, A R

    2009-01-01

    The purpose of the present investigation was to develop an optimal approach to rehabilitating patients with episcleritis and scleritis of various etiology. The paper summarizes the results of examination and treatment in 128 patients (142 eyes) with the acute chronic course of the diseases. To specify the etiopathogenesis of a disease, the patients were examined by a rheumatologist, an immunologist, a virologist, a phthisiatrician, an ENT specialist, and a roentgenologist. Rhinofrequency ultrasound biomicroscopy was made in the diagnosis of scleral inflammatory diseases. Ultrasound studies (ultrasound biomicroscopy and B-scanning of the eye) were additionally conducted. Complex therapy produced a marked positive clinical effect in 124 patients (138 eyes). During 5 years, immunological parameters improved in all the examined. Thus, episcleritis and scleritis are an overall immunological disorder and frequently associated with infections. Current laboratory clinical and instrumental studies considerably enhance the efficiency of the diagnosis and, hence, treatment of these diseases.

  11. 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.

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

    Science.gov (United States)

    ... miles): 10 25 50 Share: Essentials in Sleep Insomnia Overview & Facts Symptoms & Causes Diagnosis & Self Tests Treatment Sleep Apnea Overview & Facts ... Self Test & Diagnosis Treatment Snoring Overview and Facts Causes and Symptoms Self Tests & ... Insomnia Short Sleeper Hypersomnias Narcolepsy Insufficient ...

  13. 99Tcm-MDP bone scan for the diagnosis of SAPHO syndrome

    International Nuclear Information System (INIS)

    Liu Xiaomei; Wei Lingge; Huang Jianmin

    2011-01-01

    Objective: To investigate the clinical value of bone scintigraphy for the diagnosis of synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. Methods: The characteristics of SAPHO syndrome on 99 Tc m -MDP imaging of 8 cases were retrospectively analyzed. Results: The 99 Tc m -MDP bone scan was positive for all patients. Seven cases were found lesions in the costoclavicular region, 3 cases involved with unilateral sacroiliac joint, 2 cases involved with spine and 1 patient with extremity. Four lesions were found without relevant clinical symptoms. Conclusion: Bone scintigraphy is useful for the diagnosis of SAPHO syndrome, especially for those lesions with no clinical symptoms. (authors)

  14. Diagnosis, Differential Diagnoses, and Classification of Diverticular Disease

    OpenAIRE

    Lembcke, Bernhard

    2015-01-01

    Background While detailed history, physical examination, and laboratory tests are of great importance when examining a patient with diverticular disease, they are not sufficient to diagnose (or stratify) diverticulitis without cross-sectional imaging (ultrasonography (US), computed tomography (CT)). Methods Qualified US has diagnostic value equipotent to qualified CT, follows relevant legislation for radiation exposure protection, and is frequently effectual for diagnosis. Furthermore, its un...

  15. Loin to groin pain: The importance of a differential diagnosis

    Directory of Open Access Journals (Sweden)

    Alexander E.P. Smith

    2015-01-01

    Conclusion: Assessment of patients with loin pain requires a systematic approach. PVCS is a rare cause of lumbar back and loin pain but one that should be considered, particularly in active young males. Early diagnosis is key to prevent the potential sequalae of untreated rhabdomyolysis. There is currently no consensus on management option for PVCS with only a few cases being reported in the literature. We describe successful management with supportive non operative treatment.

  16. The use of SD-OCT in the differential diagnosis of dots, spots and other white retinal lesions.

    Science.gov (United States)

    Zaharova, Elena; Sherman, Jerome

    2011-01-01

    To demonstrate the utility of a retinal imaging technique using spectral domain optical coherence tomography (SD-OCT) for creating a B-scan layer-by-layer analysis to aid in the differential diagnosis of various retinal dots, spots, and other white lesions. Review. A retrospective review of imaging studies performed with SD-OCT (Topcon, 3DOCT-2000, Oakland, NJ) at SUNY State College of Optometry. B-scan layer-by-layer analysis and unique SD-OCT reflectivity patterns of the following retinal white lesions are reviewed in the order of their retinal layer localization: myelinated nerve fiber layer, cotton wool spot, exudates, edema residues, drusen, fundus albipunctatus, Stargardt disease, Bietti crystalline dystrophy, punctate inner choroidopathy (PIC), presumed ocular histoplasmosis syndrome (POHS), post-photocoagulation chorioretinal scarring, and osseous choristoma. The reviewed images demonstrate the utility of SD-OCT in the identification of the unique characteristics of the presented retinal pathologies. SD-OCT is ideal for retinal layer localization of lesions, thus enhancing the differential diagnosis of retinal dots, spots, and other white lesions. Even though true pathognomonic patterns are rare, highly suggestive findings of certain retinal abnormalities often facilitate immediate recognition and diagnosis.

  17. 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…

  18. Receiving the Initial Down Syndrome Diagnosis: A Comparison of Prenatal and Postnatal Parent Group Experiences

    Science.gov (United States)

    Nelson Goff, Briana S.; Springer, Nicole; Foote, Laura Cline; Frantz, Courtney; Peak, Madison; Tracy, Courtney; Veh, Taylor; Bentley, Gail E.; Cross, Kayli A.

    2013-01-01

    This study explored the preliminary experiences of parents upon learning of their child's diagnosis of Down syndrome. Qualitative data from a web-based, national survey were analyzed based on two groups: prenatal ("n" = 46) or postnatal ("n" = 115) diagnosis. Three primary categories emerged from the data analysis:…

  19. Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

    Science.gov (United States)

    Tarquinio, Daniel C.; Hou, Wei; Neul, Jeffrey L.; Lane, Jane B.; Barnes, Katherine V.; O’Leary, Heather M.; Bruck, Natalie M.; Kaufmann, Walter E.; Motil, Kathleen J.; Glaze, Daniel G.; Skinner, Steven A.; Annese, Fran; Baggett, Lauren; Barrish, Judy O.; Geerts, Suzanne P.; Percy, Alan K.

    2015-01-01

    Purpose Diagnosis of Rett syndrome (RTT) is often delayed. We sought to determine type of physician who typically makes the diagnosis of RTT and to identify risk factors for delayed diagnosis. Methods One-thousand eighty-five participants from the multicenter longitudinal RTT natural history study with classic and atypical RTT were recruited from 2006 to 2014. Age of diagnosis, diagnostician, diagnostic criteria, clinical and developmental data were collected. Results Among 919 classic and 166 atypical RTT participants, median diagnosis age was 2.7 years (interquartile range 2.0–4.1) in classic and 3.8 years (interquartile range 2.3–6.9) in atypical RTT. Pediatricians made the diagnosis of classic RTT rarely (5.2%); however, proportion diagnosed by pediatricians increased since 2006. Since the first diagnostic criteria, the age of diagnosis decreased among subspecialists but not pediatricians. Odds of a pediatrician making the diagnosis of classic RTT were higher if a child stopped responding to parental interaction, and lower if they possessed gastro-esophageal reflux, specific stereotypies, lost babbling or the ability to follow commands. Delayed acquisition of basic gross motor skills or finger feeding were associated with younger diagnosis; delayed acquisition of higher level fine motor skills, later onset of supportive features, and normal head circumference were associated with late diagnosis. 33% with microcephaly before 2.5 years were diagnosed after the median age of 2.7 years. Conclusions Age of RTT diagnosis has improved among subspecialists, and pediatricians have made the diagnosis of classic RTT more frequently since 2006. Strategies for educating diagnosticians should incorporate specific risk factors for delayed diagnosis. PMID:25801175

  20. 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