WorldWideScience

Sample records for syndrome aetiology diagnosis

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. Sjogren's Syndrome in Older Patients Aetiology, Diagnosis and Management

    NARCIS (Netherlands)

    Moerman, Rada V.; Bootsma, Hendrika; Kroese, Frans G. M.; Vissink, Arjan

    2013-01-01

    Sjogren's syndrome (SS) is a systemic autoimmune disease, characterized by chronic inflammation of exocrine glands that results in development of xerostomia and keratoconjunctivitis sicca. The disease activity of SS is not restricted to exocrine glands, and many other organs and organ systems can be

  6. New aetiology of patellofemoral pain syndrome.

    Science.gov (United States)

    Chas, Julie; Mariot, Philippe; Tassart, Marc; Pialoux, Gilles

    2014-05-23

    We report the case of a 30-year-old man with more than 100 different male sexual partners per year. He reported using cocaine, ecstasy, γ-hydroxybutyric acid and crystal mephedrone and presented with bilateral gonalgia resistant to standard analgesia. He had no noteworthy medical history, and physical examination and laboratory tests were uninformative. MRI showed marked intra-articular effusion but no meniscus or ligament damage. The aetiological diagnosis in this case was made by excluding other potential causes. Patellofemoral pain syndrome (PFPS) is one of the most common and challenging injuries. In this first case reported, the aetiology was found to be mechanical, due to the position adopted during fellatio with multiple male partners. 2014 BMJ Publishing Group Ltd.

  7. Ovine wet carcass syndrome of unknown aetiology

    African Journals Online (AJOL)

    A condition of unknown aetiology, known as 'the wet sheep carcass syndrome' has led to the loss of about ... aetiology. Introduction. Wet sheep carcasses were seen with increasing frequency at abattoirs from January 1981. ... the holding pens, and transport stress. In the high incidence area (see Figure 1), feeding systems.

  8. 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)

  9. Painful bladder syndrome/interstitial cystitis: Aetiology, evaluation and management

    Directory of Open Access Journals (Sweden)

    William Rourke

    2014-06-01

    Full Text Available Interstitial cystitis or bladder pain syndrome (BPS is often a chronic debilitating condition characterised by predominantly storage symptoms and associated frequently with pelvic pain that varies with bladder filling. The aetiology is uncertain as the condition occurs in the absence of a urinary tract infection or other obvious pathology. Resulting discomfort may vary and ranges from abdominal tenderness to intense bladder spasms. Diagnosis and management of this syndrome may be difficult and is often made by its typical cystoscopic features. This review discusses the diagnosis and management of interstitial cystitis according to the current available best evidence and advises a multimodal approach in its management.

  10. Anorexia nervosa--diagnosis, aetiology, and treatment.

    Science.gov (United States)

    Hartman, D

    1995-12-01

    The aetiology, assessment and treatment of anorexia nervosa are reviewed in the light of the classical accounts of Morton, Lasègue and Gull. The core symptoms are deliberate weight loss, disturbed body image and amenorrhoea, and complications may include cardiac failure, electrolyte disturbances, hypothermia and osteoporosis. Common clinical findings are described. Disturbed brain serotonin activity is implicated in the aetiology of anorexia nervosa, but there is little support for the use of pharmacological treatments. Psychological theories of aetiology are discussed with reference to Bruch, Crisp, Palazzoli and Minuchin: the common theme is the reaction of the patient and her family to the physical and social changes of puberty. Individual and/or family psychotherapy is seen as central to the treatment of anorexia nervosa, and the relevant clinical research is reviewed. The roles of general practitioners, general psychiatrists and eating disorder specialists are discussed in the light of recent consensus treatment guidelines.

  11. Aetiology, Diagnosis and Treatment of Ankyloglossia

    Directory of Open Access Journals (Sweden)

    Charisi Christina

    2017-11-01

    Full Text Available This review paper occupies with the frequency, etiology, diagnosis, treatment and the possible complications of Ankyloglossia (AG. AG is a congenital anomaly and its range varies from 0,1% to 4,8 %. There are several methods for the diagnosis of AG. The most popular method is the ‘’Hazelbaker’’, which assesses seven different tongue movements and five appearance characteristics. As far as the management of AG is concerned, there are two options, the ‘’wait-and-see’’ and the invasive procedure. The operator can choose between the frenotomy and the frenectomy. The difference is that in frenectomy the clinician removes the whole frenulum. Few complications have been mentioned, such as ulcers, pain, bleeding and noticeable scar, which were brought on to a second operation.

  12. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

    Science.gov (United States)

    López-Pisón, J; García-Jiménez, M C; Monge-Galindo, L; Lafuente-Hidalgo, M; Pérez-Delgado, R; García-Oguiza, A; Peña-Segura, J L

    2014-09-01

    Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  13. Thromboembolic Conditions, Aetiology Diagnosis and Treatment in Dogs and Cats

    Directory of Open Access Journals (Sweden)

    Filip Konečný

    2010-01-01

    Full Text Available In veterinary medicine, thrombo-embolism (TE is an under-appreciated medical condition that requires immediate recognition. Since TE is multifactorial and its mode of presentation may vary, veterinarians face great difficulties in making a definitive diagnosis in a timely manner. In addition, most of the underlying conditions that give rise to TE are life-threatening and an aggressive diagnostic and therapeutic approach is required. Not only does the diagnosis and treatment of this condition require the collaboration of many specialties, the costs of therapy can be excessive with a high risk of recurrence. As such, owners have to be thoroughly informed before the therapy commences. While TE has been well-characterized in humans and is associated with significant morbidity and mortality, little information of similar quality is available in veterinary medicine. In addition, TE in animals is distinct from its human counterpart and we cannot simply adapt what is known from human clinical trials. With the promise of improvements in imaging modalities that improve our diagnostic capabilities, the window of opportunity to treat TE increases. This article focuses on aetiology, clinical presentation, diagnosis, and treatment of dogs and cats affected by TE.

  14. Vaginal discharge: aetiological agents and evaluation of syndromic management in Lagos.

    Science.gov (United States)

    Onyekonwu, C L; Olumide, Y M; Oresanya, F A; Onyekonwu, G C

    2011-01-01

    The WHO introduced the syndromic management to help in the control of STIs in resource-poor settings. This needs to be adapted to local settings taking into consideration the prevalence of the various organisms causing STIs. This has given rise to a need to validate the algorithm. The study aimed to correlate the syndromic management treatment algorithm for vaginal discharge with the aetiological diagnosis based on laboratory investigations. Specifically, the sensitivity, specificity and positive predictive values of the syndromic management against a gold standard laboratory diagnosis were evaluated. A total of 195 consecutive patients presenting to the study sites with vaginal discharge were enrolled in the study. Information on sociodemographic data was obtained with the aid of questionnaires. Samples were taken and examined for candida, trichomonas, bacterial vaginosis (BV), chlamydia and gonorrheal infections, after speculum and vaginal examinations. The sensitivity and positive predictive values (PPV) of the syndromic management in detecting vaginal infections performed better than corresponding values for cervicitis. The algorithm for cervicitis improved on addition of speculum examination (36% and 32.1% for sensitivity and PPV respectively). The study shows that the syndromic diagnosis for vaginal discharge fares better for vaginitis, especially with addition of speculum examination. The application of syndromic diagnosis for cervicitis resulted in omission of patients who had evidence of cervical infections by bacteriologic examination.

  15. Schizophrenia: metabolic aspects of aetiology, diagnosis and future treatment strategies.

    Science.gov (United States)

    Harris, Laura W; Guest, Paul C; Wayland, Matthew T; Umrania, Yagnesh; Krishnamurthy, Divya; Rahmoune, Hassan; Bahn, Sabine

    2013-06-01

    Despite decades of research, the pathophysiology and aetiology of schizophrenia remains incompletely understood. The disorder is frequently accompanied by metabolic symptoms including dyslipidaemia, hyperinsulinaemia, type 2 diabetes and obesity. These symptoms are a common side effect of currently available antipsychotic medications. However, reports of metabolic dysfunction in schizophrenia predate the antipsychotic era and have also been observed in first onset patients prior to antipsychotic treatment. Here, we review the evidence for abnormalities in metabolism in schizophrenia patients, both in the central nervous system and periphery. Molecular analysis of post mortem brain tissue has pointed towards alterations in glucose metabolism and insulin signalling pathways, and blood-based molecular profiling analyses have demonstrated hyperinsulinaemia and abnormalities in secretion of insulin and co-released factors at first presentation of symptoms. Nonetheless, such features are not observed for all subjects with the disorder and not all individuals with such abnormalities suffer the symptoms of schizophrenia. One interpretation of these data is the presence of an underlying metabolic vulnerability in a subset of individuals which interacts with environmental or genetic factors to produce the overt symptoms of the disorder. Further investigation of metabolic aspects of schizophrenia may prove critical for diagnosis, improvement of existing treatment based on patient stratification/personalised medicine strategies and development of novel antipsychotic agents. Copyright © 2012 Elsevier Ltd. All rights reserved.

  16. Binocular diplopia in a tertiary hospital: Aetiology, diagnosis and treatment.

    Science.gov (United States)

    Merino, P; Fuentes, D; Gómez de Liaño, P; Ordóñez, M A

    2017-12-01

    To study the causes, diagnosis and treatment in a case series of binocular diplopia. A retrospective chart review was performed on patients seen in the Diplopia Unit of a tertiary centre during a one-year period. Diplopia was classified as: acute≤1 month since onset; subacute (1-6 months); and chronic (>6 months). Resolution of diplopia was classified as: spontaneous if it disappeared without treatment, partial if the course was intermittent, and non-spontaneous if treatment was required. It was considered a good outcome when diplopia disappeared completely (with or without treatment), or when diplopia was intermittent without significantly affecting the quality of life. A total of 60 cases were included. The mean age was 58.65 years (60% female). An acute or subacute presentation was observed in 60% of the patients. The mean onset of diplopia was 82.97 weeks. The most frequent aetiology was ischaemic (45%). The most frequent diagnosis was sixth nerve palsy (38.3%), followed by decompensated strabismus (30%). Neuroimaging showed structural lesions in 17.7% of the patients. There was a spontaneous resolution in 28.3% of the cases, and there was a good outcome with disappearance of the diplopia in 53.3% at the end of the study. The most frequent causes of binocular diplopia were cranial nerve palsies, especially the sixth cranial nerve, followed by decompensated strabismus. Structural lesions in imaging tests were more than expected. Only one third of patients had a spontaneous resolution, and half of them did not have a good outcome despite of treatment. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Epidemiology, aetiology, diagnosis and screening of lung cancer

    International Nuclear Information System (INIS)

    Berzinec, P.

    2006-01-01

    Lung cancer is the leading cause of cancer death globally. Smoking causes about 90 % of all lung cancer cases. Passive, i.e. involuntary smoking has been confirmed to enhance the risk of lung cancer in exposed people. Individual susceptibility is one of important factors in lung cancer formation. New knowledge in epidemiology and aetiology of lung cancer gives new possibilities in diagnostic and screening of this disease. Results of large randomised trials aimed at new technologies in lung cancer screening will be available in a few years. (author)

  18. Chronic spontaneous urticaria: latest developments in aetiology, diagnosis and therapy

    Science.gov (United States)

    Vestergaard, Christian; Deleuran, Mette

    2015-01-01

    Chronic urticaria is a debilitating disease characterized by itching and hives with or without angioedema lasting for more than 6 weeks. The disease carries a significant emotional and economic burden for the patient and often results in an odyssey between doctors of different specialities. Patients suffering from chronic urticaria are considered more difficult to satisfy, treat and to have a bigger emotional burden than the average patient in dermatology, paediatric and general practice settings. A joint initiative under the Dermatology section of the European Academy of Allergy and Clinical immunology (EAACI), the Global Allergy and Asthma European Network (GA2LEN), the European Dermatology Forum (EDF) and the World Allergy Organization (WAO) has resulted in recently published guidelines for the diagnosis, classification and treatment of chronic urticarial: these guidelines are clinically useful and have a high success rate when followed in daily clinical practice. The treatment of choice for chronic urticaria is still nonsedating antihistamines although other treatments are available, with omalizumab (humanized IgG anti IgE antibodies) as the newest therapy. The pathogenesis of urticaria is poorly understood but autoimmunity is considered as one of the major underlying causes for this disease, although other theories exist. PMID:26568807

  19. Prevalence, Phenomenology, Aetiology and Predictors of Challenging Behaviour in Smith-Magenis Syndrome

    Science.gov (United States)

    Sloneem, J.; Oliver, C.; Udwin, O.; Woodcock, K. A.

    2011-01-01

    Background: The prevalence, phenomenology aetiology and correlates of four forms of challenging behaviour in 32 children and adults with Smith-Magenis syndrome (SMS) were investigated. Methods: Cognitive assessments, questionnaires and semi-structured interviews were used to gather data on intellectual disability, verbal and physical aggression,…

  20. Oculocerebrocutaneous syndrome : report of three additional cases and aetiological considerations

    NARCIS (Netherlands)

    Moog, U; deDieSmulders, C; Systermans, JMJ; Cobben, JM

    1997-01-01

    The oculocerebrocutaneous (OCC) syndrome is characterized by the presence of orbital cysts and microphthalmia/anophthalmia, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations. Most of the patients suffer from psychomotor retardation and seizures. To date, 23 patients

  1. 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

  2. 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.

  3. Viral pneumonia in adults in sub-Saharan Africa – epidemiology, aetiology, diagnosis and management

    Directory of Open Access Journals (Sweden)

    Antonia Ho

    2014-06-01

    Full Text Available Community-acquired pneumonia causes substantial morbidity and mortality in sub-Saharan Africa with an estimated 131 million new cases each year. Viruses – such as influenza virus, respiratory syncytial virus and parainfluenza virus – are now recognised as important causes of respiratory disease in older children and adults in the developed world following the emergence of sensitive molecular diagnostic tests, recent severe viral epidemics, and the discovery of novel viruses. Few studies have comprehensively evaluated the viral aetiology of adult pneumonia in Africa, but it is likely to differ from Western settings due to varying seasonality and the high proportion of patients with immunosuppression and co-morbidities. Emerging data suggest a high prevalence of viral pathogens, as well as multiple viral and viral/bacterial infections in African adults with pneumonia. However, the interpretation of positive results from highly sensitive polymerase chain reaction tests can be challenging. Therapeutic and preventative options against viral respiratory infections are currently limited in the African setting. This review summarises the current state of the epidemiology, aetiology, diagnosis and management of viral pneumonia in sub-Saharan Africa.

  4. Spontaneous chylothorax complicating small cell lung cancer – Review of aetiology and diagnosis

    Directory of Open Access Journals (Sweden)

    S. Hanina

    2015-01-01

    Full Text Available We report the first case of spontaneous chylothorax complicating small cell lung cancer. A 52 year old female presented with exertional dyspnoea, left-sided chest and neck pain, and dysphagia. The chest X-ray on admission revealed a large left-sided pleural effusion. A subsequent CT chest showed a large anterior mediastinal mass with a left brachiocephalic and jugular vein thrombosis. The patient underwent medical thoracoscopy with chest drain insertion, which drained pleural fluid high in triglycerides, consistent with a chylothorax. Due to its uncommon nature, the management of chylothorax is not well defined. Alongside the case report, we provide a review of aetiology, mechanism and diagnosis with a brief summary of treatment options.

  5. 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 ...

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

    Science.gov (United States)

    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.

  7. 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 ...

  8. Review article: the aetiology of primary Budd-Chiari syndrome - differences between the West and China.

    Science.gov (United States)

    Qi, X; Han, G; Guo, X; De Stefano, V; Xu, K; Lu, Z; Xu, H; Mancuso, A; Zhang, W; Han, X; Valla, D C; Fan, D

    2016-12-01

    China may have the largest number of Budd-Chiari syndrome (BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China. Relevant papers were identified by major English- and Chinese-language databases, conference abstracts, and by manual search. Risk factors reviewed include myeloproliferative neoplasms (MPNs) and their related gene mutations, anti-phospholipid syndrome, paroxysmal nocturnal haemoglobinuria (PNH), hyperhomocysteinaemia and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation, factor V Leiden (FVL) and prothrombin G20210A mutations, inherited anti-thrombin, protein C and protein S deficiencies, pregnancy and puerperium, poverty, and family history. We examined the differences in the aetiological distribution of BCS between the West and China. Several recommendations should be considered in Chinese BCS patients: (i) screening for hyperhomocysteinaemia and MTHFR mutation should be regularly performed; (ii) screening for MPNs, PNH, and anti-phospholipid syndrome should be selectively performed; (iii) inherited anti-thrombin, protein C, and protein S deficiencies should be actively explored; (iv) screening for FVL and prothrombin G20210A mutations may be unnecessary; and (v) the clinical significance of pregnancy and puerperium, poverty with bacterial infections and unsanitary environments, and family history as possible risk factors should never be neglected. © 2016 John Wiley & Sons Ltd.

  9. 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.

  10. Eisenmenger syndrome and idiopathic pulmonary arterial hypertension: do parenchymal lung changes reflect aetiology?

    International Nuclear Information System (INIS)

    Griffin, N.; Allen, D.; Wort, J.; Rubens, M.; Padley, S.

    2007-01-01

    Aim: To document the pulmonary vascular changes on thin-section computed tomography (CT) in patients with Eisenmenger syndrome and idiopathic pulmonary arterial hypertension, and to determine whether there is any correlation with pulmonary arterial pressures or the aetiology of pulmonary hypertension. Material and methods: From the National Pulmonary Hypertension Database, we identified eight patients with idiopathic pulmonary arterial hypertension and 20 patients with Eisenmenger syndrome (secondary to a ventriculoseptal defect) who had also undergone contrast-enhanced thin-section CT. CT studies were reviewed for the presence of centrilobular nodules, mosaicism, neovascularity, and bronchial artery hypertrophy. Haemodynamic data were also reviewed. Results: Centrilobular nodules, mosaicism, and neovascularity were seen in both patient groups (p > 0.05). A significantly higher number of enlarged bronchial arteries were seen in patients with Eisenmenger syndrome. There was no correlation with pulmonary arterial pressures. Conclusion: Patients with idiopathic pulmonary arterial hypertension and Eisenmenger syndrome demonstrated similar pulmonary vascular changes on CT. These changes did not predict the underlying cause of pulmonary hypertension or its severity

  11. Eisenmenger syndrome and idiopathic pulmonary arterial hypertension: do parenchymal lung changes reflect aetiology?

    Energy Technology Data Exchange (ETDEWEB)

    Griffin, N. [Royal Brompton and Harefield NHS Trust, London (United Kingdom)]. E-mail: nyreegriffin@hotmail.com; Allen, D. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Wort, J. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Rubens, M. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Padley, S. [Royal Brompton and Harefield NHS Trust, London (United Kingdom)

    2007-06-15

    Aim: To document the pulmonary vascular changes on thin-section computed tomography (CT) in patients with Eisenmenger syndrome and idiopathic pulmonary arterial hypertension, and to determine whether there is any correlation with pulmonary arterial pressures or the aetiology of pulmonary hypertension. Material and methods: From the National Pulmonary Hypertension Database, we identified eight patients with idiopathic pulmonary arterial hypertension and 20 patients with Eisenmenger syndrome (secondary to a ventriculoseptal defect) who had also undergone contrast-enhanced thin-section CT. CT studies were reviewed for the presence of centrilobular nodules, mosaicism, neovascularity, and bronchial artery hypertrophy. Haemodynamic data were also reviewed. Results: Centrilobular nodules, mosaicism, and neovascularity were seen in both patient groups (p > 0.05). A significantly higher number of enlarged bronchial arteries were seen in patients with Eisenmenger syndrome. There was no correlation with pulmonary arterial pressures. Conclusion: Patients with idiopathic pulmonary arterial hypertension and Eisenmenger syndrome demonstrated similar pulmonary vascular changes on CT. These changes did not predict the underlying cause of pulmonary hypertension or its severity.

  12. Chicken astrovirus as an aetiological agent of runting-stunting syndrome in broiler chickens.

    Science.gov (United States)

    Kang, Kyung-Il; Linnemann, Erich; Icard, Alan H; Durairaj, Vijay; Mundt, Egbert; Sellers, Holly S

    2018-04-01

    Despite descriptions of runting-stunting syndrome (RSS) in broiler chickens dating back over 40 years, the aetiology has not yet been described. A novel chicken astrovirus (CkAstV) was isolated in an LMH liver cell line from the intestines of chickens affected with RSS. Clinical RSS is characterized by retarded growth and cystic crypt lesions in the small intestine. In 1-day-old broiler chickens infected with the CkAstV isolate, virus was only detected in the intestinal epithelial cells during the first few days after infection. Notably, the preferred host cells are the crypt epithelial cells following initial replication in the villous epithelial cells, thus implying viral preference for immature intestinal cells. Nevertheless, the CkAstV isolate did not induce remarkable pathological changes, despite the presence of the virus in situ. Serial chicken-to-chicken passages of the virus induced increased virulence, as displayed by decreased weight gain and the presence of cystic lesions in the small intestine reproducing clinical RSS in chickens. The analysis of the full-length genome sequences from the isolated CkAstV and the CkAstV from the bird-to-bird passages showed >99 % similarity. The data obtained in this study suggest that the CkAstV isolate is capable of inducing RSS following serial bird-to-bird passages in broilers and is as an aetiological agent of the disease.

  13. Review article: the aetiology, diagnosis, mechanisms and clinical evidence for food intolerance.

    Science.gov (United States)

    Lomer, M C E

    2015-02-01

    Food intolerance is non-immunological and is often associated with gastrointestinal symptoms. To focus on food intolerance associated with gastrointestinal symptoms and critically appraise the literature in relation to aetiology, diagnosis, mechanisms and clinical evidence. A search using the terms and variants of food intolerance, lactose, FODMAP, gluten, food chemicals within Pubmed, Embase and Scopus was carried out and restricted to human studies published in English. Additionally, references from relevant papers were hand searched for other appropriate studies. Food intolerance affects 15-20% of the population and may be due to pharmacological effects of food components, noncoeliac gluten sensitivity or enzyme and transport defects. There have been significant advances in understanding the scientific basis of gastrointestinal food intolerance due to short-chain fermentable carbohydrates (FODMAPs). The most helpful diagnostic test for food intolerance is food exclusion to achieve symptom improvement followed by gradual food reintroduction. A low FODMAP diet is effective, however, it affects the gastrointestinal microbiota and FODMAP reintroduction to tolerance is part of the management strategy. There is increasing evidence for using a low FODMAP diet in the management of functional gastrointestinal symptoms where food intolerance is suspected. Exclusion diets should be used for as short a time as possible to induce symptom improvement, and should be followed by gradual food reintroduction to establish individual tolerance. This will increase dietary variety, ensure nutritional adequacy and minimise impact on the gastrointestinal microbiota. © 2014 John Wiley & Sons Ltd.

  14. MDCT evaluation of congenital mitral-aortic intervalvular fibrosa aneurysm: implications for the aetiology and differential diagnosis

    International Nuclear Information System (INIS)

    Tsai, I. Chen; Fu, Yun-Ching; Lin, Ming-Chih; Jan, Sheng-Ling; Lin, Pao-Chun

    2009-01-01

    Mitral-aortic intervalvular fibrosa aneurysm is a rare disease whose aetiology remains a matter of debate. Here we present the youngest reported patient with the disease, a 6-month-old boy, without a history of infection, which supports a congenital origin as initially proposed. Multidetector-row CT (MDCT) surpassed echocardiography in delineating the intracardiac anatomical details with high spatial resolution, confirming the important problem-solving role of MDCT in the diagnosis of congenital heart disease. (orig.)

  15. Consonant and syllable complexity of toddlers with Down syndrome and mixed-aetiology developmental delays.

    Science.gov (United States)

    Sokol, Shari B; Fey, Marc E

    2013-12-01

    This study examines whether speech sound production of toddlers with Down syndrome (DS) is on par with or more severely impaired than that of mental age (MA) peers with developmental delay due to aetiologies other than Down syndrome at two points within an 18-month period near the onset of spoken word production. The utterances of 26 children with DS, aged 24-33 months, with a mean MA of 14.3 months, originally studied by Fey et al. and Warren et al. were compared to those of a group of 22 children with similar intellectual and communication delay but no DS (NDS). Phonological measures included the size of the consonant inventory, syllable shape complexity, and number of communication acts with canonical vocalizations. At Time 1, the DS group performed as well as or better than the NDS group on these measures of speech production. At Time 2, 18 months later, the DS group was behind the NDS group on the same measures. Results extended the pattern of more severe impairment in children with DS than NDS peers commonly noted in expressive language to measures of phonological development.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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 • ...

  2. 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.

  3. 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...

  4. Churg-Strauss Syndrome as an Unusual Aetiology of Stroke with Haemorrhagic Transformation in a Patient with No Cardiovascular Risk Factors

    Directory of Open Access Journals (Sweden)

    Tiina Sairanen

    2011-01-01

    Full Text Available Background: We present here a case of haemorrhagic brain infarction in a middle-aged and physically active male, who had never smoked. This case report aims to remind the internist and neurologist to bear in mind unusual aetiologies of brain infarcts in patients without classical cardiovascular risk factors. Case Description: A 49-year-old male with pulmonary asthma and a prior history of nasal polyps had a wake-up stroke with left-sided symptoms and speech disturbance. A head MRI and MR angiography revealed a recent haemorrhagic infarct in the right putamen and corona radiata. The left hemiparesis progressed to sensory-motor hemiplegia on the 4th day. In the head CT, it was shown that the haemorrhagic infarct had progressed to a large haematoma. A pansinusitis was also diagnosed. The aetiological investigations revealed a minor atrial septal defect (ASD with shunting and a heterozygotic clotting factor V R506Q mutation. A remarkable blood eosinophilia of 9.80 E9/l (42% together with fever, sinusitis, wide-spread bilateral nodular pulmonary infiltrates that did not respond to wide-spectrum antimicrobial treatment, positive anti-neutrophilic cytoplasmic antibodies, a high myeloperoxidase antibody level and slightly positive anti-proteinase 3 antibodies suggested the diagnosis of Churg-Strauss syndrome. These inflammatory symptoms and findings promptly responded to treatment with corticosteroids and cyclophosphamide. Conclusions: Even after the concomitant findings of the low risk factors, i.e. small ASD and heterozygotic clotting factor mutation, continued search for the final aetiology of stroke revealed Churg-Strauss syndrome, which was the key to the treatment.

  5. [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.

  6. 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

  7. 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

  8. 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.)

  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. The case against performing pleural biopsies for the aetiological diagnosis of exudates.

    Science.gov (United States)

    Porcel, J M

    2017-10-01

    In most cases, the etiological diagnosis of pleural exudates does not require a pleural biopsy. However, when it is considered necessary, the biopsy should seldom be conducted using invasive methods such as thoracoscopy. Two paradigmatic examples are pleural tuberculosis and malignant effusions. In many centres, pleural fluid adenosine deaminase measurement has replaced closed pleural biopsies in the diagnosis of tuberculosis. Similarly, pathological and molecular studies on pleural fluid cell blocks or alternatively, image-guided pleural biopsies have drastically reduced the need for thoracoscopy. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  11. Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis

    DEFF Research Database (Denmark)

    Caforio, Alida L P; Pankuweit, Sabine; Arbustini, Eloisa

    2013-01-01

    In this position statement of the ESC Working Group on Myocardial and Pericardial Diseases an expert consensus group reviews the current knowledge on clinical presentation, diagnosis and treatment of myocarditis, and proposes new diagnostic criteria for clinically suspected myocarditis and its di...

  12. Diagnosis of aetiology and complications of relapsing urinary tract infections via imaging methods

    International Nuclear Information System (INIS)

    Rieden, K.; Mende, U.

    1985-01-01

    The indication and efficiency of various radiological examination methods in relapsing infections of the urinary tract, as well as the complications of such infections, are described, and characteristic and pathognomical findings are demonstrated. The diagnostic accuracy of the individual imaging methods depends on the site, size, and density of the pathological process. Accurate diagnosis also requires the incorporation of clinical findings including those established by means of clinical pathology setups. (orig.) [de

  13. Aetiology, diagnosis and management of infective causes of severe haemoptysis in intensive care units.

    Science.gov (United States)

    Fartoukh, Muriel; Parrot, Antoine; Khalil, Antoine

    2008-05-01

    Infective causes of severe haemoptysis have progressively shifted to causes related to chronic inflammatory lung diseases. Physicians should, however, recognize the most common of them, for example necrotizing parenchymal infections, tuberculosis and mycetoma. The recent increase in the incidence of a devastating Panton-Valentine leukocidin-associated staphylococcal pneumonia has reminded us of the crucial role of prompt diagnosis and management. General supportive care should be administered to prevent asphyxiation in addition to starting appropriate antibiotics as soon as possible. Once the bleeding has been controlled, the diagnostic strategy should integrate a detailed medical history, physical examination, Gram stain of the respiratory specimens and chest radiograph. Computed tomography scan has dramatically improved the diagnosis and the treatment of infective causes of severe haemoptysis by assessing the cause and mechanism(s) of haemoptysis. Although bronchial arteries are the major source of bleeding, nonbronchial systemic and pulmonary arteries' involvement should be feared, especially in haemoptysis related to tuberculosis and mycetoma. Endovascular therapy should be first attempted to control the bleeding and then elective surgery performed in case of localized lesion and adequate pulmonary function. Fibreoptic bronchoscopy with broncho-alveolar lavage remains the cornerstone of diagnosis in immunocompromised hosts with haemoptysis and in the rare cases of alveolar haemorrhage related to infectious diseases.

  14. Abnormal fetal head shape: aetiology and management

    DEFF Research Database (Denmark)

    Petersen, Olav Bjørn; David, Anna; Thomasson, Louise

    2007-01-01

    and define management pathways for fetuses with an abnormal skull shape. Methods: Our FMU databases were searched to ascertain all fetuses with an abnormal skull shape. Sonographic findings, diagnosis and outcome were reviewed. Results: Of the 370 cases identified, 31.6% were associated with spinabifida......Background: Abnormal head shape is an uncommon finding on prenatal ultrasound, often associated with breech presentation, spinabifida, aneuploidy or secondary to oligohydramnios or fetal position. Other aetiologies are rarer and may be more difficult to define. Objective: To determine the aetiology...... incidence of genetic syndromes, in the absence of a clear diagnosis, referral to a tertiary centre and genetic input is advised as detection of subtle sonographic features may aid diagnosis, allowing for targeted molecular analysis. An algorithm for management will be proposed....

  15. Limbal stem cell deficiency : Concept, aetiology, clinical presentation, diagnosis and management.

    Directory of Open Access Journals (Sweden)

    Dua H

    2000-01-01

    Full Text Available Defects in renewal and repair of ocular surface as a result of limbal stem cell deficiency are now known to cause varying ocular surface morbidity including persistent photophobia, repeated and persistent surface breakdown and overt conjunctivalisation of the cornea. Ocular conditions with abnormalities of ocular surface repair include pterygium, limbal tumours, aniridia, severe scarring following burns, cicatricial pemphigoid and Stevens-Johnson Syndrome, sequelae of mustard gas exposure and Herpes simplex epithelial disease, radiation keratopathy, contact lens induced keratopathy, neuroparalytic keratitis and drug toxicity. Restoring ocular health in these eyes has traditionally been frustrating. An understanding of these intricate cell renewal and maintenance processes has spurred the evolution in recent years of new treatment methods for several blinding diseases of the anterior segment; many more exciting modalities are in the offing. However, there is inadequate awareness among ophthalmologists about the current principles of management of ocular surface disorders. The purpose of this article is to help elucidate the important principles and current treatment methods relevant to ocular surface disorders.

  16. 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.

  17. [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.

  18. 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 ...

  19. [Specific developmental language disorder: a theoretical approach to its diagnosis, aetiology and clinical symptoms].

    Science.gov (United States)

    Castro-Rebolledo, R; Giraldo-Prieto, M; Hincapié-Henao, L; Lopera, F; Pineda, D A

    This article presents an updated review about the definition, diagnostic criteria, classifications, etiology and the evolution of the specific language impairment (SLI). The specific language impairment is characterized by a developmental language delay and an impaired language, that persist over time and it is not explained by sensorial, motor and mental disabilities, neither by psycopathological disorders, socio-emotional deprivation, nor brain injury. The diagnosis is based on exclusional criteria. Some researchers propose different classifications considering the children performance in language comprehension and language production. Genetical linkage to the FOXP2 gen in the SPCH1 region of the chromosome 7 and to the chromosomes 13, 16 y 19 has been reported. The neuroimage studies have shown alterations in the volume and perfusion of some brain structures related to language. The manifestations of SLI may change during the development of the children and may disturb the self-esteem, the academic performance and the social abilities. The variability in the linguistic and cognitive performance, and the variety in the etiological findings in children with SLI, don't allow to settle the affected population as an homogeneous group. Different theoretical positions have emerged as a consequence of this condition.

  20. Adult-onset hyperinsulinaemic hypoglycaemia in clinical practice: diagnosis, aetiology and management

    Directory of Open Access Journals (Sweden)

    Benjamin G Challis

    2017-09-01

    Full Text Available Objective: In adults with hyperinsulinaemic hypoglycaemia (HH, in particular those with insulinoma, the optimal diagnostic and management strategies remain uncertain. Here, we sought to characterise the biochemical and radiological assessment, and clinical management of adults with HH at a tertiary centre over a thirteen-year period. Design: Clinical, biochemical, radiological and histological data were reviewed from all confirmed cases of adult-onset hyperinsulinaemic hypoglycaemia at our centre between 2003 and 2016. In a subset of patients with stage I insulinoma, whole-exome sequencing of tumour DNA was performed. Results: Twenty-nine patients were identified (27 insulinoma, including 6 subjects with metastatic disease; 1 pro-insulin/GLP-1 co-secreting tumour; 1 activating glucokinase mutation. In all cases, hypoglycaemia (glucose ≤2.2 mmol/L was achieved within 48 h of a supervised fast. At fast termination, subjects with stage IV insulinoma had significantly higher insulin, C-peptide and pro-insulin compared to those with insulinoma staged I–IIIB. Preoperative localisation of insulinoma was most successfully achieved with EUS. In two patients with inoperable, metastatic insulinoma, peptide receptor radionuclide therapy (PRRT with 177Lu-DOTATATE rapidly restored euglycaemia and lowered fasting insulin. Finally, in a subset of stage I insulinoma, whole-exome sequencing of tumour DNA identified the pathogenic Ying Yang-1 (YY1 somatic mutation (c.C1115G/p.T372R in one tumour, with all tumours exhibiting a low somatic mutation burden. Conclusion: Our study highlights, in particular, the utility of the 48-h fast in the diagnosis of insulinoma, EUS for tumour localisation and the value of PRRT therapy in the treatment of metastatic disease.

  1. Aetiological study of the presumed ocular histoplasmosis syndrome in the Netherlands

    NARCIS (Netherlands)

    Ongkosuwito, J.V.; Kortbeek, L.M.; Lelij, van der A.; Molicka, E.; Kijlstra, A.; Smet, de M.D.; Suttrop-Schulten, M.S.A.

    1999-01-01

    Aim. To investigate whether presumed ocular histoplasmosis syndrome in the Netherlands is caused by Histoplasma capsulatum and whether other risk factors might play a role in the pathogenesis of this syndrome. Methods. 23 patients were clinically diagnosed as having presumed ocular histoplasmosis

  2. 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

  3. Mirizzi Syndrome Type IV: A challenging diagnosis

    Directory of Open Access Journals (Sweden)

    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.

  4. Breastfeeding and early infection in the aetiology of childhood leukaemia in Down syndrome

    OpenAIRE

    Flores-Lujano, J; Perez-Saldivar, M L; Fuentes-Panan?, E M; Gorodezky, C; Bernaldez-Rios, R; Del Campo-Martinez, M A; Martinez-Avalos, A; Medina-Sanson, A; Paredes-Aguilera, R; De Diego-Flores Chapa, J; Bolea-Murga, V; Rodriguez-Zepeda, M C; Rivera-Luna, R; Palomo-Colli, M A; Romero-Guzman, L

    2009-01-01

    Background: For a child to develop acute leukaemia (AL), environmental exposure may not be sufficient: interaction with a susceptibility factor to the disease, such as Down syndrome (DS), may also be necessary. We assessed whether breastfeeding and early infection were associated with the risk of developing AL in children with DS. Methods: Children with DS in Mexico City, and either with or without AL, were the cases (N=57) and controls (N=218), respectively. Population was divided in childre...

  5. 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.

  6. 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.

  7. 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)

  8. 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

  9. 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

  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. Local Injection of Triamcinolone Acetonide: A Forgotten Aetiology of Cushing's Syndrome.

    Science.gov (United States)

    Sukhumthammarat, Weera; Putthapiban, Prapaipan; Sriphrapradang, Chutintorn

    2017-06-01

    Many different non systemic corticosteroid administrations can cause iatrogenic Cushing's Syndrome (CS). We herein report a case series of iatrogenic CS from keloid scars treatment and aesthetic regimen called mesotherapy. Our first patient developed CS after having exceeded recommended dose of intralesional injection of Triamcinolone Acetonide (TAC). Second case presented with CS followed by unidentified mesotherapy treatment for local fat reduction. Subcutaneous injections of dexamethasone were found to be the part of mesotherapy regimen in one case. Physicians should be insightful in prescribing TAC especially in those patients who have high predisposing factors for developing CS. In the same way, off-label mesotherapy combine with corticosteroid can lead to iatrogenic CS and Hypothalamic-Pituitary-Adrenal (HPA) axis suppression. Currently, there are no standard guidelines for mesotherapy treatment. Therefore, further clinical trials on dosage, duration and effective combination of mesotherapy regimens are needed to increase safety uses.

  14. Local Injection of Triamcinolone Acetonide: A Forgotten Aetiology of Cushing’s Syndrome

    Science.gov (United States)

    Sukhumthammarat, Weera; Putthapiban, Prapaipan

    2017-01-01

    Many different non systemic corticosteroid administrations can cause iatrogenic Cushing’s Syndrome (CS). We herein report a case series of iatrogenic CS from keloid scars treatment and aesthetic regimen called mesotherapy. Our first patient developed CS after having exceeded recommended dose of intralesional injection of Triamcinolone Acetonide (TAC). Second case presented with CS followed by unidentified mesotherapy treatment for local fat reduction. Subcutaneous injections of dexamethasone were found to be the part of mesotherapy regimen in one case. Physicians should be insightful in prescribing TAC especially in those patients who have high predisposing factors for developing CS. In the same way, off-label mesotherapy combine with corticosteroid can lead to iatrogenic CS and Hypothalamic-Pituitary-Adrenal (HPA) axis suppression. Currently, there are no standard guidelines for mesotherapy treatment. Therefore, further clinical trials on dosage, duration and effective combination of mesotherapy regimens are needed to increase safety uses. PMID:28764237

  15. 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.

  16. 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 ...

  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. [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.

  19. 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

  20. 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.

  1. 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.

  2. 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 ...

  3. [Aetiology of childhood alopecia].

    Science.gov (United States)

    Cortés G, Andrea; Mardones V, Felipe; Zemelman D, Viviana

    2015-01-01

    Childhood alopecia is a relative rare event in general paediatric dermatology practice. Hair loss in children may have multiple causes, and there are different types of alopecia according to age groups. The aim of the study was to describe the clinical and epidemiological profile of alopecia in children from two Chilean paediatric hospitals. Descriptive analysis of clinical records of patients from the Dermatology Department of Roberto del Rio and Luis Calvo Mackenna Hospitals between January 2007 and June 2010. Patients with clinical diagnosis of alopecia were included. A total of 345 clinical records were analysed, with 179 males (51.9%). The median age was 72 months. Overall, the most common diagnoses were: alopecia areata (AA), (36.8%), tinea capitis (TC), (21%), nevus sebaceous (13.2%), and tellogen effluvium (8.7%). According to age groups, in newborns, the most common causes were aplasia cutis and nevus sebaceous. In toddlers, pre-school and school children, the principal causes were nevus sebaceous, AA and TC. Trichotillomania was also significant in school children. In adolescents, nevus sebaceous, AA and tellogen effluvium were the most frequent diagnoses. AA was statistically associated with autoimmune disease, thyroid disease, nail disorder, psychiatric disease, and Down's syndrome. The most common aetiological agent in TC was M. canis (86.6%). Trichotillomania was also statistically associated to psychiatric disorders. In this study, the main causes of alopecia in children were acquired and non-scarring alopecia. In our results, the type of alopecia varies according to age group. Some types of childhood alopecia showed a close correlation to psychiatric disorders. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Non lethal Raine syndrome and differential diagnosis.

    Science.gov (United States)

    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.

  5. [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.

  6. 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.

  7. The usefulness of tomodensitometry in the aetiological diagnosis of Cushing's syndrome [hypercorticism

    International Nuclear Information System (INIS)

    Delisle, F.

    1996-01-01

    By using tomodensitometry it is possible to observe, during the same examination, the pituitary region and the adrenal glands. Possible abnormalities in these regions can be interpreted to determine the cause of spontaneous hypercorticism and in this way treatment can be better adapted to the situation

  8. 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.

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

    Science.gov (United States)

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

    2012-01-01

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

  10. Diagnosis 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.

  11. 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

  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. 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.

  15. Do environmental factors play a role in the aetiology of carcinoma in situ testis and the testicular dysgenesis syndrome?

    DEFF Research Database (Denmark)

    Sonne, S B; Hoei-Hansen, C E; Fisher, J S

    2004-01-01

    development, and may be provoked by external factors such as endocrine disruptors in addition to genetic predisposition. Testicular germ cell tumours (TGCTs), considered the most severe symptom of TDS, have increased in incidence during the last 60 years, to become the most common malignancy in young...... (DBP) suggesting that ubiquitously present environmental endocrine disruptors may play a role in the aetiology of human TDS. So far, no animal model has been able to mimick all the symptoms of TDS including TGCTs although CIS-like cells have been found in a spontaneous testicular neoplasm in a rabbit....

  16. 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.

  17. Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

    Science.gov (United States)

    Kim, Ja Hye; Shin, Young-Lim; Yang, Seung; Cheon, Chong Kun; Cho, Ja Hyang; Lee, Beom Hee; Kim, Gu-Hwan; Lee, Jin Ok; Seo, Eul Joo; Choi, Jin-Ho; Yoo, Han-Wook

    2015-12-01

    Hypoparathyroidism is characterized by hypocalcaemia, hyperphosphataemia, and low or inappropriately normal parathyroid hormone (PTH) levels. Idiopathic or genetic drivers are the predominant causes of hypoparathyroidism in paediatric-age patients. This study investigated the aetiology and clinical course of primary hypoparathyroidism in infancy and childhood. This study included 37 patients (23 males, 14 females) with primary hypoparathyroidism diagnosed prior to 18 years of age. We analysed aetiologies, initial presentation, age at diagnosis, endocrine and radiological findings, and outcomes. The median age at presentation was 1·7 months (range 1 day-17 years), and the mean follow-up duration was 7·0 ± 5·3 years (range 0·5-16·8 years). Our cohort included 22 cases (59·5%) of 22q11·2 microdeletion syndrome. Other aetiologies included hypoparathyroidism-deafness-renal dysplasia syndrome (5/37, 13·5%) and one patient each with autoimmune polyglandular syndrome type 1, Kearns-Sayre syndrome and Kenny-Caffey syndrome. The remaining 7 (18·9%) patients were classified as idiopathic hypoparathyroidism cases. Among the 15 patients who underwent brain imaging, 5 (33·3%) had basal ganglia calcification. Among the 26 patients examined by renal imaging, 5 (19·2%) had either nephrocalcinosis or a renal stone. After 11 months of calcium or calcitriol supplementation, 16 patients (43·2%) discontinued medication. The final PTH levels were significantly higher in patients with transient hypoparathyroidism than those with permanent hypoparathyroidism. Identification of the genetic aetiologies of hypoparathyroidism makes it possible to predict patient outcomes and provide appropriate genetic counselling. Long-term treatment with calcium and calcitriol necessitates monitoring for renal complications. © 2015 John Wiley & Sons Ltd.

  18. 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)

  19. Hypersensitivity Eosinophilic Myocarditis in a Patient Receiving Multiple Drug Therapy: Challenges in Diagnosis and Defining the Aetiology.

    Science.gov (United States)

    Gulin, Dario; Sikic, Jozica; Habek, Jasna Cerkez; Gulin, Sandra Jerkovic; Galic, Edvard

    2016-12-01

    Eosinophilic myocarditis (EM) is a rare and potentially fatal disease if left untreated. Because the disease can have a delayed presentation and can appear even after 2 years, its underlying causes often remain unknown. We report the case of a 63-year-old man with an atypical clinical presentation of hypersensitive EM and significant coronary artery disease, which was confirmed through coronary angiography. The patient was treated with hydrochlorothiazide (12.5 mg once daily for 2 years) and budesonide/formoterol (160/4.5 µg once daily for 2 years). Amoxicillin/clavulanic acid (1000/200 mg three times daily for 2 days) and azithromycin (500 mg once daily for 2 days) were used to treat pneumonia, while ibuprofen (600 mg three times daily for 2 days) was used to treat pericarditis. Extremely high levels of eosinophils led to clinical suspicion of non-acute coronary syndrome as the cause of chest pain and myocardial necrosis. In addition, early pulse doses of methylprednisolone (500 mg intravenously once daily) were administered. Complete clinical recovery and a fast decrease in eosinophils and troponin levels were observed after a few hours on the same day. No signs of recurrent myocarditis were noticed after 3 days of administering the same pulse doses of methylprednisolone, which was then replaced by oral methylprednisolone administered for the next 2 months (step-down regimen, starting from 64 mg/day). Despite causality assessment being difficult, prompt therapy must be given as soon as possible to prevent fatal outcomes. Delayed corticosteroid treatment, which is necessary regardless of the underlying cause, can result in heart failure and death.

  20. [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.

  1. 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.

  2. 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.

  3. 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...

  4. 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.

  5. 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....

  6. Clinical, aetiological and therapeutic findings in Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS syndrome, four years experience in a third-level Mexican hospital

    Directory of Open Access Journals (Sweden)

    V.L. Díaz-Molina

    2016-04-01

    Conclusions: For correct diagnosis and intervention it is essential to identify the different clinical patterns of drug-induced skin reactions; DRESS syndrome in particular, is a drug-induced skin reaction that can endanger a patient's life, and therefore it is important that it is correctly identified and managed.

  7. 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.

  8. 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.

  9. 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...

  10. 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.

  11. 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.

  12. 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 ...

  13. 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 ...

  14. Incidence, symptomatology and aetiological factors for Asherman's ...

    African Journals Online (AJOL)

    Background: Asherman's syndrome is a significant cause of secondary amenorrhoea and infertility in Nigeria. It is largely preventable and safe practices will make it rare. Aim: To determine the incidence, symptomatology and aetiological factors for Asherman's syndrome in Orlu, South East Nigeria. Methods: A prospective ...

  15. 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...

  16. 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

  17. 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.

  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. Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

    Directory of Open Access Journals (Sweden)

    Tom Stiff

    Full Text Available Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS, a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities. Mutations in ATR, which also functions during replication, can cause Seckel syndrome, a clinically related disorder. These findings suggest that impaired DNA replication could underlie the developmental defects characteristic of these disorders. Here, we show that although origin licensing capacity is impaired in all patient cells with mutations in origin licensing component proteins, this does not correlate with the rate of progression through S phase. Thus, the replicative capacity in MGS patient cells does not correlate with clinical manifestation. However, ORC1-deficient cells from MGS patients and siRNA-mediated depletion of origin licensing proteins also have impaired centrosome and centriole copy number. As a novel and unexpected finding, we show that they also display a striking defect in the rate of formation of primary cilia. We demonstrate that this impacts sonic hedgehog signalling in ORC1-deficient primary fibroblasts. Additionally, reduced growth factor-dependent signaling via primary cilia affects the kinetics of cell cycle progression following cell cycle exit and re-entry, highlighting an unexpected mechanism whereby origin licensing components can influence cell cycle progression. Finally, using a cell-based model, we show that defects in cilia function impair chondroinduction. Our findings raise the possibility that a reduced efficiency in forming cilia could contribute to the clinical features of MGS, particularly the bone development abnormalities, and could provide a new dimension for considering developmental impacts of licensing deficiency.

  1. 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.

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

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

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

  3. 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

  4. 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.

  5. 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...

  6. 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…

  7. 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

  8. 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 ...

  9. 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.

  10. 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.

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

    Science.gov (United States)

    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.

  12. Diagnosis and management of recurrent herpetiform stomatitis and Behçet syndrome like recurrent aphthous stomatitis herpetiform type

    Directory of Open Access Journals (Sweden)

    Endah Ayu Tri Wulandari

    2008-11-01

    Full Text Available Recurrent Aphthous Stomatitis (RAS is a common inflammatory condition of the oral mucosa. The aetiology of RAS remains unclear, yet there are several predisposing factors which could be involved in the onset of the lesion. The herpetiform type of RAS appeared to be similar to recurrent oral Herpes Simplex infection and also could be part of Behçet Syndrome. This case report discussed a patient suffering from a herpetiform type of RAS with its clinical appearance resembling recurrent oral Herpes Simplex infection and Behçet syndrome. Initial treatment was undertaken based on the empirical treatment, yet the respond was not satisfactory. Then, laboratory tests were undertaken, including complete blood count, the total population of T lymphocyte, B lymphocyte, T helper, T suppressor, NK cells, T helper/T suppressor ratio, C3, C4, IgG, IgA, and IgM. These tests showed that there were immune and hematinic deficiency condition. Nevertheless, the clinical appearance, laboratory findings and consultation did not support the diagnosis of recurrent oral Herpes Simplex infection and Behçet Syndrome, thus, enhancing the definite diagnosis of the herpetiform type of RAS with immune and hematinic deficiency as the underlying condition. Based on the definite diagnosis, treatment plan was then revised to target the underlying condition.

  13. 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...

  14. [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.

  15. 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.

  16. 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.

  17. 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

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

    Science.gov (United States)

    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.

  19. 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 ...

  20. 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: ...

  1. 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 ...

  2. 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 ...

  3. 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 ...

  4. 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, ...

  5. 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)

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. 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.

  11. [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.

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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...

  17. 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.

  18. 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....

  19. 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.

  20. 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

  1. 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)

  2. [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.

  3. 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...

  4. 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.

  5. 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

  6. Bouveret's syndrome

    International Nuclear Information System (INIS)

    Rehman, A.; Hasan, Z.; Saeed, A.; Abdullah, K.

    2008-01-01

    Gastric Outlet Obstruction (GOO) due to impaction of a gallstone in the duodenum after migration through a bilioduodenal fistula is known as Bouveret's syndrome. Its clinical symptoms are entirely vague and nonspecific. Because of its rarity, insidiousness and unpredictable symptomatology. Bouveret's syndrome is never thought of in the differential diagnosis as aetiology of gastric outlet obstruction. Recent advances in fiberoptics technology, advent of modern imaging modalities and minimally-invasive techniques like endoscopy and laparoscopy has brought a great revolution in the management of Bouveret's syndrome and have tremendously decreased morbidity and mortality associated with this rare clinical entity. (author)

  7. 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.

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

    Science.gov (United States)

    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.

  9. 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.

  10. 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

  11. 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

  12. Gorlin-Goltz Syndrome: Diagnosis and Treatment Options

    Directory of Open Access Journals (Sweden)

    João Mendes-Abreu

    2017-05-01

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

  13. 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.

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

    Directory of Open Access Journals (Sweden)

    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. 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

  20. 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.

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

    Directory of Open Access Journals (Sweden)

    Asaranti Kar

    2016-01-01

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

  2. 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.

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

    Directory of Open Access Journals (Sweden)

    Daniela Cardoso Pereira

    2013-01-01

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

  4. 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

  5. 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

  6. An update for atypical haemolytic uraemic syndrome: Diagnosis and treatment. A consensus document

    Directory of Open Access Journals (Sweden)

    Josep M. Campistol

    2015-09-01

    Full Text Available Haemolytic uraemic syndrome (HUS is a clinical entity defined as the triad of nonimmune haemolytic anaemia, thrombocytopenia, and acute renal failure, in which the underlying lesions are mediated by systemic thrombotic microangiopathy (TMA. Different causes can induce the TMA process that characterises HUS. In this document we consider atypical HUS (aHUS a sub-type of HUS in which the TMA phenomena are the consequence of the endotelial damage in the microvasculature of the kidneys and other organs due to a disregulation of the activity of the complement system. In recent years, a variety of aHUs-related mutations have been identified in genes of the complement system, which can explain approximately 60% of the aHUS cases, and a number of mutations and polymorphisms have been functionally characterised. These findings have stablished that aHUS is a consequence of the insufficient regulation of the activation of the complement on cell surfaces, leading to endotelial damage mediated by C5 and the complement terminal pathway. Eculizumab is a monoclonal antibody that inhibits the activation of C5 and blocks the generation of the pro-inflammatory molecule C5a and the formation of the cell membrane attack complex. In prospective studies in patients with aHUS, the use of Eculizumab has shown a fast and sustained interruption of the TMA process and it has been associated with significative long-term improvements in renal function, the interruption of plasma therapy and important reductions in the need of dialysis. According to the existing literature and the accumulated clinical experience, the Spanish aHUS Group published a consensus document with recommendations for the treatment of aHUs (Nefrologia 2013;33[1]:27–45. In the current online version of this document, we update the aetiological classification of TMAs, the pathophysiology of aHUS, its differential diagnosis and its therapeutic management.

  7. 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.

  8. 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.

  9. 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)

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

    Science.gov (United States)

    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

  11. Olfactory Reference Syndrome: Diagnostic Criteria and Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    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.

  12. 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.

  13. 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…

  14. 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

  15. 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.

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

    Directory of Open Access Journals (Sweden)

    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

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

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    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.

  18. 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

  19. 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.

  20. 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.

  1. 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.

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

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    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. Aetiological blood biomarkers of ischaemic stroke.

    Science.gov (United States)

    Sonderer, Julian; Katan Kahles, Mira

    2015-01-01

    Each year, over 5 million people die worldwide from stroke, and at least every sixth patient who survives will experience another stroke within five years [1]. We are therefore eager to advance early and rapid diagnosis, prognosis and optimal risk stratification, as well as secondary prevention. In this context, blood biomarkers may improve patient care, as they have already done in other fields in the past, for example, troponin T/I in patients with heart attacks, natriuretic peptides in patients with heart failure or PCT (procalcitonin) [2] in patients with pneumonia. In the setting of acute stroke, a blood biomarker can be any quantifiable entity that reflects the manifestation of a stroke-related process. The most fruitful implementation of stroke biomarkers is in areas where information from traditional clinical sources is limited. There may be markers, for example, to guide risk stratification, reveal stroke aetiology, identify patients who may benefit most from interventions, monitor treatment efficacy, and recognise the risk of short-term complications or unfavourable long-term outcomes. For this review we focus on blood biomarkers that could help distinguish the underlying aetiology of an ischaemic stroke. Stroke tends to be a much more heterogeneous condition than ischaemic heart disease, which is caused by atherosclerosis in the vast majority of cases. Causes of stroke include small and large vessel disease, cardioembolism, dissections, and rare vasculo- and coagulopathies, among others. Because of this heterogeneity among stroke patients, it is clear that a monolithic approach to stroke prevention or secondary prevention is not warranted. Aetiological classification is important specifically because prognosis, risk of recurrence and management options differ greatly between aetiological subtypes. Considering that today up to 30% of stroke patients still cannot be classified into a specific subtype [3], the ability to improve aetiological classification

  4. 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.

  5. [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.

  6. 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

  7. [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.

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

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2012-01-01

    Full Text Available to improve treatment results in premature infants with neonatal respiratory distress syndrome (NRDS, by establishing developmental mechanisms and elaborating methods for its early diagnosis, treatment, and prevention. Material and methods. The paper analyzes the results of a clinical observation and laboratory, instrumental, immunological, morphological, and radiological studies of 320 premature neonates at 26—35 weeks gestational age. The following groups of neonates were identified: 1 40 premature neonatal infants without NRDS and with the physiological course of an early neonatal period (a comparison group; 2 190 premature neonates with severe NRDS in whom the efficiency of therapy with exogenous surfactants, such as surfactant BL versus curosurf, was evaluated; 3 90 premature newborn infants who had died from NRDS at its different stages. Results. The poor maternal somatic, obstetric, and gynecological histories in the early periods of the current pregnancy create prerequisites for its termination, favor the development of severe acute gestosis, and cause abnormal placental changes. Each gestational age is marked by certain placental changes that promote impaired uterineplacentalfetal blood flow and premature birth. Alveolar and bronchial epithelial damages, including those ante and intranatally, microcircula tory disorders play a leading role in the tanatogenesis of NRDS. Intranatal hypoxia and amniotic fluid aspiration are one of the important factors contributing to alveolar epithelial damage and NRDS in premature neonates. Exogenous surfactants prevent the development of hyaline membranes and are useful in the normalization of ventilation-perfusion relationships and lung biomechanical properties. Conclusion. This study could improve the diagnosis and treatment of NRDS, which assisted in reducing the duration of mechanical ventilation from 130±7.6 to 65±11.6 hours, the number of complications (the incidence of intragastric

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

    Science.gov (United States)

    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.

  10. A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

    NARCIS (Netherlands)

    Rosenberg, C.; Wouters, C. H.; Szuhai, K.; Dorland, R.; Pearson, P.; Poll-The, B. T.; Colombijn, R. M.; Breuning, M.; Lindhout, D.

    2001-01-01

    Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, characterised by regression of development in young females. Recently, mutations in the MECP2 gene were found to be present in 80% of sporadic cases, but in much lower frequency ( <30%) among familial cases. Several reports claim that

  11. 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.)

  12. 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

  13. 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.

  14. [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").

  15. 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.

  16. Permanent Childhood Hearing Impairment: Aetiological Evaluation of Infants identified through the Irish Newborn Hearing Screening Programme

    LENUS (Irish Health Repository)

    Smith, A

    2017-11-01

    The Newborn Hearing Screening Programme (NHSP) was established in Cork University Maternity Hospital (CUMH) in April 2011. Between April 2011 and July 2014, 42 infants were identified with a Permanent Childhood Hearing Impairment (PCHI). Following this diagnosis, infants underwent a paediatric assessment according to recognised guidelines with the intention of identifying the underlying aetiology of the PCHI. The aim of this study was to assess the findings of this aetiological workup via retrospective chart review. PCHI data was obtained from the eSP database. This is a web based information system (eSP) used to track each baby through the screening and referral process A retrospective chart review of these patients was performed. Sixteen (38%) infants were diagnosed with a bilateral sensorineural hearing loss. Two infants had congenital CMV infection. A Connexin 26 gene mutation was detected in one infant. Two infants were diagnosed with Waardenburg syndrome, One with Pendred syndrome and one with Pfeiffer syndrome. Five babies underwent cochlear implantation. Through adherence to the recommended protocol a possible cause of PCHI may be determined. This study has identified areas of future improvement for this service in Ireland.

  17. 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)

  18. 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...

  19. 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.

  20. Is insulin resistance an essential component of PCOS?: The endometriosis syndromes: a clinical classification in the presence of aetiological confusion and therapeutic anarchy.

    Science.gov (United States)

    Garry, Ray

    2004-04-01

    Clinical confusion and inappropriate management continues to surround endometriosis. It is poorly recognized that the disorder can exist in two different morphological forms that have different symptoms, signs and prognosis. Earlier classification systems have been useful for research but are of limited value in aiding day-to-day management. In the clinic, two discrete phenotypes can be defined by the presence or absence of palpable nodules in the deep pelvis. Patients with such nodules with or without associated ovarian endometrioma usually have severe symptoms with significant risks of bowel and urinary tract involvement. The predominant histological feature of these lesions is extensive fibromuscular hyperplasia (adenomyoma). These patients will often need extensive surgical intervention. Patients without such palpable lesions usually have the classic superficial subperitoneal lesions with endometrial-like glands and stroma on histological examination. This group often has less severe symptoms and has little risk of developing serious associated problems. These lesions may be helped by medications and/or simple ablative surgery. It is suggested that these collections of symptoms and signs or syndromes be named after the pioneers who first described the lesions. Cullen's syndrome can be used to describe those patients with severe symptoms of endometriosis associated with palpable pelvic nodules. Sampson's syndrome can describe those with similar symptoms associated with a structurally normal pelvis.

  1. 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.

  2. Aetiology and antenatal diagnosis of spina bifida

    African Journals Online (AJOL)

    >15 mm being more indicative of some degree of intellectual disability.[12] Neither the absence of talipes nor the presence of leg movement in utero predicts normal motor function. It is also important to assess whether the lesion is isolated or associated with other abnormalities. This necessitates careful examination of all.

  3. 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

  4. 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

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. Acute vestibular syndrome: a critical review and diagnostic algorithm concerning the clinical differentiation of peripheral versus central aetiologies in the emergency department.

    Science.gov (United States)

    Venhovens, J; Meulstee, J; Verhagen, W I M

    2016-11-01

    Almost 20 % of cerebral ischaemic strokes occur in the posterior circulation. Estimates are that 20 % of these patients present with isolated vertigo. In approximately one-sixth to one-third of these patients, this symptom is wrongly diagnosed to be peripheral vestibular in origin. As a result, these missed stroke patients are withheld from therapeutic and secondary prophylactic treatment, which may result in unnecessary morbidity and mortality. We therefore propose a diagnostic algorithm concerning the clinical differentiation of acute vestibular syndrome (AVS) patients based on a critical review of the available literature.

  11. 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.

  12. 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.

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

    Science.gov (United States)

    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.

  14. Popliteal artery entrapment syndrome

    International Nuclear Information System (INIS)

    Klooster, N.J.J.; Janevski, B.K.; Kitslaar, P.

    1988-01-01

    Two patients with unilateral popliteal artery entrapment syndrome (PAES) are reported. The importance of diligence in angiographic diagnosis and recognition of the so-called 'functional' PAES group as a separate entity are stressed. It is inferred from our material that a surgical approach for PAES is to be advocated since surgical release of the entrapment can lead to complete resolution of symptoms regardless of aetiology. (orig.) [de

  15. [Capgras delusion: a review of aetiological theories].

    Science.gov (United States)

    Madoz-Gúrpide, Agustín; Hillers-Rodríguez, Rosalía

    2010-04-01

    Features of the Capgras delusion, the most common among the delusional misidentification syndromes, are reviewed. We describe its phenomenology in psychiatric and organic diseases, its prevalence and comorbidity with other reduplicative disorders and review aetiological models in order to elucidate the origins of the delusion from both the cognitive psychology and psychodynamics precepts, as the neuropsychiatry and anatomical basis. According to cognitive models, Capgras syndrome cannot be exclusively conceived as a dysfunction in facial recognition but in recognizing a person globally considered. Feeling of familiarity is absent due to the inability to integrate successive memories about a person along episodic experiences, thus generating delusional doubles in accordance to the patient's needs or drives. From the neuropsychiatry point of view Capgras delusion arises from the failure in reconciling information about identification of the person and its associated emotions by the disconnection between frontal lobes and right temporo-limbic regions (hippocampus), in addition to bilateral frontal damage. Delusions are more commonly associated with right hemisphere lesions because of the impairment of several functions such as self monitoring, reality monitoring, memory and feelings of familiarity as well as the necessary preservation of the left hemisphere. Aetiology of Capgras delusion should include the conjoint involvement of clinical, neuropsychiatric and neuropsychological data with different theoretical models.

  16. 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.

  17. 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 ...

  18. 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)

  19. 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…

  20. 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:…

  1. 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

  2. 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

  3. Premenstrual Syndromes: An Approach to Diagnosis and Treatment ...

    African Journals Online (AJOL)

    The premenstrual syndromes are characterised by physical and/or affective symptoms that occur in the luteal phase of the menstrual cycle. Symptoms and severity of symptoms vary and therefore the impact of these syndromes on psychosocial and economical aspects is difficult to quantify and generalise. South African ...

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

    Directory of Open Access Journals (Sweden)

    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.

  5. Cracked tooth syndrome: diagnosis, treatment and correlation between symptoms and post-extraction findings.

    Science.gov (United States)

    Ehrmann, E H; Tyas, M J

    1990-04-01

    Although the cracked tooth syndrome has been known for over twenty years, it frequently remains undiagnosed because the condition is not sufficiently well recognized. Cracked tooth syndrome has been defined as an incomplete fracture of the dentine in a vital posterior tooth, and must be distinguished from a split tooth. A diagnosis can often be made by means of the history, and must be confirmed by reproducing the patient's symptoms. The ideal treatment consists of applying a stainless steel band to the tooth, with cessation of symptoms confirming the diagnosis, followed by a full coverage restoration. Case histories illustrating the syndrome are presented, and a further case is reported where a diagnosis of cracked tooth syndrome was made, and the tooth extracted, sectioned and stained to show the nature of the cracks and their relationship to the pulp.

  6. CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.

    Science.gov (United States)

    Gantner, Susanne; Rütten, Arno; Requena, Luis; Gassenmaier, Gerhard; Landthaler, Michael; Hafner, Christian

    2014-10-01

    CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area, left hand and left foot since childhood. The histopathologic findings were consistent with verruciform xanthoma. In correlation with the clinical picture of a linear lesion, the diagnosis of CHILD nevus was made. Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome. This syndrome can be associated with only minimal clinical symptoms. The anatomical distribution of the lesions, a static clinical course and the typical histopathologic features of a CHILD nevus can serve as the clue to a diagnosis of CHILD syndrome in such cases. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

    OpenAIRE

    Ahmed, Kiran Jan; Ahmed, Mushtaq; Jafri, Hussain S; Raashid, Yasmin; Ahmed, Shenaz

    2014-01-01

    Down syndrome (DS) is a relatively common chromosomal condition, which can be diagnosed prenatally. However, little is known about the diagnosis of the condition in developing countries. This qualitative study explored parents’ experiences of the diagnosis of DS in Pakistan. Fifteen mothers and fifteen fathers of children with DS had semi-structured interviews, which were analysed using thematic analysis. All the parents received their child’s diagnosis after birth, ranging from the postnatal...

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

    African Journals Online (AJOL)

    Tahir M. Malla

    2015-07-14

    /licenses/by-nc-nd/4.0/). 1. Introduction. Roberts SC phocomelia syndrome is an autosomal recessive developmental disorder characterized by pre and postnatal growth retardation, microcephaly, craniofacial anomalies,.

  9. Impact of copeptin on diagnosis of acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Zeinab H. El Sayed

    2014-07-01

    Conclusion: In suspected acute coronary syndrome, determination of copeptin and cardiac troponin I provides a remarkable negative predictive value, which aids in early and safe ruling out of myocardial infarction.

  10. Antecedent Drug Exposure Aetiology and Management Protocols in Steven-Johnson Syndrome and Toxic Epidermal Necrolysis, A Hospital Based Prospective Study.

    Science.gov (United States)

    Farhat, Samina; Banday, Muddasir; Hassan, Iffat

    2016-01-01

    The study sought to identify the magnitude and characteristic of severe cutaneous adverse reactions (SCAR's) like Steven-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN). A prospective study was conducted by the Department of Pharmacology in association with Department of Dermatology in SMHS hospital. The study was carried out from June 2013-June 2015 on hospitalized cases of cutaneous adverse drug reaction reporting in hospital. The SCAR's were reported in a structured questionnaire based on adverse drug reaction (ADR) reporting form provided by the Central Drug Standard Control Organization (CDSCO) Ministry of Health and Family welfare, Government of India. The SCAR's were analysed for their characteristics, causality, severity and prognosis. Causality assessment was done by using a validated ADR probability scale of Naranjo as well as WHO Uppsala Monitoring Center (WHO-UMC) system for standardized case causality assessment. The management protocol were analysed for their clinical outcome through a proper follow up period. A total of 52 hospitalized cases of cutaneous adverse drug reactions were reported during the study period. We identified a total of 15 cases (28%) of SCAR's involving 9(17%) of SJS and 6 (12%) of TEN. SJS was seen in 2(22%) males and 7(78%) females. TEN was seen in all females (100%) and in no male. Drugs implicated in causing these life threatening reactions were identified as anticonvulsant agents like carbamazepine (CBZ), phenytoin (PHT) and Lamotrigine (LTG), oxicam NSAID, Sulfasalazine and levofloxacin. Despite higher reported mortality rates in SJS and TEN all patients survived with 2 patients surviving TEN suffered from long term opthalmological sequelae of the disease. Present study suggest that drug induced cutaneous eruptions are common ranging from common nuisance rashes to rare life threatening diseases like SJS and TEN, SJS/TEN typically occur 1-3 weeks after initiation of therapy. Aromatic AED's, LTG, oxicam NSAID

  11. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  12. The diagnosis of obstructive sleep apnoea (Pickwickian syndrome)

    International Nuclear Information System (INIS)

    Stark, P.; Aguilar, E.A. Jr.; Robbins, K.T.

    1984-01-01

    Two patients with obstructive sleep apnoea are described and the value of computer tomography in the diagnosis and follow-up is stressed. Narrowing of the oro-pharynx is a major feature in the diagnosis of this condition and is best demonstrated by CT. (orig.) [de

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

    Directory of Open Access Journals (Sweden)

    Giovanni Rizzo

    2016-01-01

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

  14. Nuclear imaging for the Cushing's syndrome etiological diagnosis; Les scintigraphies des etiologies du syndrome de Cushing

    Energy Technology Data Exchange (ETDEWEB)

    Nocaudie, M. [Centre Hospitalier Universitaire, 59 - Lille (France). Service central de medecine nucleaire et imagerie fonctionnelle

    2000-11-01

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

  15. 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.

  16. EAMJ Aetiology Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... have shown that in many cases the aetiologic agent cannot be identified (3, 4). ... and sanitary practices. All HIV-positive participants ... day. Diarrhoea was treated with oral rehydration solution and, if indicated, antimicrobial and anti- motility agents. Only one stool sample was collected for each episode of ...

  17. Genital infections and syndromic diagnosis among HIV-infected women in HIV care programmes in Kenya.

    Science.gov (United States)

    Djomand, Gaston; Gao, Hongjiang; Singa, Benson; Hornston, Sureyya; Bennett, Eddas; Odek, James; McClelland, R Scott; John-Stewart, Grace; Bock, Naomi

    2016-01-01

    Control of genital infections remains challenging in most regions. Despite advocacy by the World Health Organization for syndromic case management, there are limited data on the syndromic approach, especially in HIV care settings. This study compared the syndromic approach with laboratory diagnosis among women in HIV care in Kenya. A mobile team visited 39 large HIV care programmes in Kenya and enrolled participants using population-proportionate sampling. Participants provided behavioural and clinical data with genital and blood specimens for lab testing. Among 1063 women, 68.4% had been on antiretroviral therapy >1 year; 58.9% were using cotrimoxazole prophylaxis; 51 % had CD4+T-lymphocytes Kenya have high rates of vaginal infections. Syndromic diagnosis was a poor predictor of those infections. © The Author(s) 2015.

  18. Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

    Science.gov (United States)

    Lambotte, Olivier; Neven, Bénédicte; Galicier, Lionel; Magerus-Chatinet, Aude; Schleinitz, Nicolas; Hermine, Olivier; Meyts, Isabelle; Picard, Capucine; Godeau, Bertrand; Fischer, Alain; Rieux-Laucat, Frédéric

    2013-01-01

    A diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency during adulthood is unusual. We analyzed 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias. Twelve of the 17 patients had developed their first symptoms during childhood. The diagnosis of autoimmune lymphopro-liferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations. The 5 other patients presented their first symptoms after the age of 16 years. In these patients, three germline heterozygous FAS mutations were predicted to be associated with haploinsufficiency and a somatic event on the second FAS allele was observed in 2 cases. Autoimmune lymphoproliferative syndrome may well be diagnosed in adulthood. The occurrence of additional genetic events may account for the delayed disease onset. PMID:22983577

  19. Current concepts in the pathophysiology, evaluation, and diagnosis of compartment syndrome

    Science.gov (United States)

    Hargens, A. R.; Mubarak, S. J.

    1998-01-01

    This article reviews present knowledge of the pathophysiology and diagnosis of acute compartment syndromes. Recent results using compression of legs in normal volunteers provide objective data concerning local pressure thresholds for neuromuscular dysfunction in the anterior compartment. Results with this model indicate that a progression of neuromuscular deficits occurs when IMP increases to within 35 to 40 mm Hg of diastolic blood pressure. These findings provide useful information on the diagnosis and compression thresholds for acute compartment syndromes. Time factors are also important, however, and usually are incompletely known in most cases of acute compartment syndrome. Although the slit catheter is a very good technique for monitoring IMP during rest, these catheters and their associated extracorporeal transducer systems are not ideal. Recently developed miniature transducer-tipped catheters and, perhaps, future development of noninvasive techniques may provide accurate recordings of IMP in patients with acute compartment syndromes.

  20. An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome

    Directory of Open Access Journals (Sweden)

    Alexander K. C. Leung

    2018-01-01

    Full Text Available We report an 8-year-old boy with Netherton syndrome who was misdiagnosed and treated as severe atopic dermatitis. The diagnosis of Netherton syndrome was not made until the child was 8 years of age. We discuss the pitfalls in the diagnosis and alert physicians to the proper and early diagnosis of this syndrome. The child was treated with a low dose (0.25 mg/kg of oral acitretin and a topical moisturizer with marked improvement of his skin and pruritus in 2 months. At 6-month follow-up, the skin was almost clear of erythema and scaling, and the hair was longer and stronger. The dose of acitretin was reduced to 0.12 mg/kg for another 6 months and then discontinued.

  1. 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.

  2. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy

    International Nuclear Information System (INIS)

    Estroff, Judy A.

    2012-01-01

    Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies. (orig.)

  3. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy

    Energy Technology Data Exchange (ETDEWEB)

    Estroff, Judy A. [Harvard Medical School, Fetal-Neonatal Radiology, Boston, MA (United States); Children' s Hospital Boston, Advanced Fetal Care Center, Department of Radiology, Boston, MA (United States)

    2012-01-15

    Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies. (orig.)

  4. [DIAGNOSIS AND TREATMENT OF OVERACTIVE BLADDER SYNDROME IN PELVIC INJURIES].

    Science.gov (United States)

    Neymark, A I; Voytenko, A N; Bondarenko, A V; Muzalevskaya, N I; Kruglykhin, I V

    2015-01-01

    Case records of 1994 patients with injuries of the pelvic ring were analyzed. The article presents the results of examination and treatment of patients with urinary tract dysfunction. A frequent complications of pelvic fractures include overactive bladder syndrome (OAB) (18.9%). Many factors play a role in the development of this syndrome, in particular damage to the pelvic diaphragm and the development of pelvic hematoma. OAB is more common in unstable pelvic fractures (24.8%). Surgical stabilization of the pelvic ring injuries and the use of M-cholinoblockers and a1-blockers lead to a reduction of OAB.

  5. Syndromic diagnosis and management of confirmed mushroom poisonings.

    Science.gov (United States)

    Diaz, James H

    2005-02-01

    To assess the evolving global epidemiology of mushroom poisoning and to identify new and emerging mushroom poisonings and their treatments, a descriptive analysis and review of the world's salient scientific literature on mushroom poisoning was conducted. Data sources from observation studies conducted over the period 1959-2002, and describing 28,018 mushroom poisonings since 1951, were collected from case reports, case series, regional descriptive studies, meta-analyses, and laboratory studies of mushroom poisonings and the toxicokinetics of mycotoxins. Studies included in the review were selected by a MEDLINE search, 1966-2004, an Ovid OLDMEDLINE search, 1951-1965, and a medical library search for sources published before 1951. To better guide clinicians in establishing diagnoses and implementing therapies, despite confusing ingestion histories, data were extracted to permit an expanded syndromic classification of mushroom poisoning based on presentation timing and target organ systemic toxicity. The final 14 major syndromes of mushroom poisoning were stratified first by presentation timing and then by target organ systemic toxicity and included early (syndromes (> or =1 day). There were eight early syndromes (four neurotoxic, two gastrointestinal, two allergic); three late syndromes (hepatotoxic, accelerated nephrotoxic, erythromelalgia); and three delayed syndromes (delayed nephrotoxic, delayed neurotoxic, rhabdomyolysis). Four new mushroom poisoning syndromes were classified including accelerated nephrotoxicity (Amanita proxima, Amanita smithiana), rhabdomyolysis (Tricholoma equestre, Russula subnigricans), erythromelalgia (Clitocybe amoenolens, Clitocybe acromelalgia), and delayed neurotoxicity (Hapalopilus rutilans). In addition, data sources were stratified by three chronological time periods with >1,000 confirmed mushroom ingestions reported and tested for any statistically significant secular trends in case fatalities from mushroom ingestions over the

  6. The diagnosis and lived experience of polycystic ovary syndrome: A qualitative study.

    Science.gov (United States)

    Tomlinson, Julie; Pinkney, Jonathan; Adams, Linda; Stenhouse, Elizabeth; Bendall, Alison; Corrigan, Oonagh; Letherby, Gayle

    2017-10-01

    To explore the impact of the diagnosis of polycystic ovary syndrome on health/ill health identity, how women experience this diagnosis and their health beliefs. Polycystic ovary syndrome is a common and heterogeneous condition, giving rise to a wide range of different health concerns. Previous research on polycystic ovary syndrome has been dominated by the medical perspective and less is known about the experiences and needs of women. A qualitative study of 32 premenopausal adult women with polycystic ovary syndrome (diagnosis confirmed by Rotterdam criteria), aged between 18 and 45 years, recruited from a primary and secondary care setting. Thematic analysis of transcripts from 11 focus groups conducted between 2013-2015. Women identified a range of concerns affecting personal and reproductive identity, health knowledge and beliefs: (1) delays and barriers to diagnosis; (2) general lack of empathy by the medical profession; (3) difficulty in accessing specialist referral; (4) lack of information from professionals; (5) inconsistent and sometimes unsatisfactory experiences with medications; (6) insufficient help and advice regarding in/fertility; (7) relative lack of awareness or concern about longer term risks such as diabetes; and (8) significant discrepancies between the beliefs of women with polycystic ovary syndrome and how they experienced the attitudes of healthcare professionals. There appears to be a divergence between women's experience and attitudes of healthcare professionals. The diagnosis, support and lived experience of women with polycystic ovary syndrome could be enhanced by better professional recognition of these concerns, improved knowledge and communication about polycystic ovary syndrome and better access to support and specialist advice. © 2017 John Wiley & Sons Ltd.

  7. Pedigree analysis, diagnosis and treatment in Von Hippel-Lindau syndrome: A report of three cases.

    Science.gov (United States)

    Wang, Yuanliang; Liang, Guobiao; Tian, Jing; Wang, Xin; Chen, Anjian; Liang, Tiancai; Du, Yang; Li, Hao; Du, Jiang; Yu, Lang; Chen, Zongping

    2018-04-01

    The objective of the present study was to systematically investigate the clinical features, diagnosis and therapeutic treatment of Von Hippel-Lindau (VHL) syndrome in order to improve understanding of this disease. A total of 3 cases of VHL syndrome treated at the Affiliated Hospital of Zunyi Medical College (Zunyi, China) between September 2014 and October 2015 were retrospectively analyzed. The associated literature was reviewed, and the diagnostic and therapeutic features were discussed. Case 1 was diagnosed as VHL syndrome accompanied by a renal tumor on the right side, and radical tumor resection in the right kidney was performed. Postoperative pathological examination indicated clear cell carcinoma. Case 2 was diagnosed as VHL syndrome accompanied by bilateral adrenal pheochromocytoma. The left-side adrenal tumor was removed, and postoperative pathological analysis was suggestive of adrenal pheochromocytoma. Case 3 visited the hospital due to the presence of masses on the left and right sides of the kidney, but did not undergo surgery for personal reasons. Follow-ups were scheduled subsequent to surgery at another hospital. The diagnosis in all 3 cases was confirmed by genetic testing, where VHL mutations were detected in all patients. Following surgery, pedigree and genetic analysis was performed in all 3 pedigrees and VHL mutations were identified in 7 family members. The diagnosis of VHL syndrome should be based on the clinical manifestation of the patients and the results of genetic tests. DNA analysis of mutations is the main method for diagnosis. An appropriate surgical plan should be formulated based on the site, size and number of tumors, and the condition of the patient. Since VHL syndrome is an inheritable genetic disorder and relapse following surgery is common, pedigree analysis of the patient and lifelong follow-ups are essential. Additionally, physicians should pay attention to VHL syndrome in order to avoid missing diagnosis or misdiagnosis.

  8. Wunderlich's syndrome secondary to renal angiomyolipoma: CT diagnosis

    International Nuclear Information System (INIS)

    Sabate, J.M.; Gimenez, A.M.; Parellada, J.A.; Franquet, T.; Reig, C.

    1996-01-01

    We present three cases of renal angiomyolipoma with spontaneous perineal bleeding. The diagnosis was based on computerized tomography which disclosed the fatty component of the tumor and defined the retroperitoneal extension of the bleeding. (Author) 16 refs

  9. Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.

    Science.gov (United States)

    Wirrell, Elaine C; Laux, Linda; Donner, Elizabeth; Jette, Nathalie; Knupp, Kelly; Meskis, Mary Anne; Miller, Ian; Sullivan, Joseph; Welborn, Michelle; Berg, Anne T

    2017-03-01

    To establish standards for early, cost-effective, and accurate diagnosis; optimal therapies for seizures; and recommendations for evaluation and management of comorbidities for children and adults with Dravet syndrome, using a modified Delphi process. An expert panel was convened comprising epileptologists with nationally recognized expertise in Dravet syndrome and parents of children with Dravet syndrome, whose experience and understanding was enhanced by their active roles in Dravet syndrome associations. Panelists were asked to base their responses to questions both on their clinical expertise and results of a literature review that was forwarded to each panelist. Three rounds of online questionnaires were conducted to identify areas of consensus and strength of that consensus, as well as areas of contention. The panel consisted of 13 physicians and five family members. Strong consensus was reached regarding typical clinical presentation of Dravet syndrome, range of electroencephalography and magnetic resonance imaging findings, need for genetic testing, critical information that should be conveyed to families at diagnosis, priorities for seizure control and typical degree of control, seizure triggers and recommendations for avoidance, first- and second-line therapies for seizures, requirement and indications for rescue therapy, specific recommendations for comorbidity screening, and need for family support. Consensus was not as strong regarding later therapies, including vagus nerve stimulation and callosotomy, and for specific therapies of associated comorbidities. Beyond the initial treatment with benzodiazepines and use of valproate, there was no consensus on the optimal in-hospital management of convulsive status epilepticus. We were able to identify areas where there was strong consensus that we hope will (1) inform health care providers on optimal diagnosis and management of patients with Dravet syndrome, (2) support reimbursement from insurance companies

  10. Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother.

    Science.gov (United States)

    Bouchahda, Haifa; El Mhabrech, Houda; Hamouda, Hechmi Ben; Ghanmi, Sobhi; Bouchahda, Rim; Soua, Habib

    2017-01-01

    The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition.

  11. Review Diagnosis and management of Munchausen's Syndrome by ...

    African Journals Online (AJOL)

    A systematic literature review was conducted to identify and synthesise the relevant literature on the epidemiology, presentation, assessment and management of Munchausen's Syndrome by Proxy (MSP). This included collating information from published and unpublished sources. The purpose of the review was to provide ...

  12. Medial Tibial Stress Syndrome : Diagnosis, Treatment and Outcome Assessment

    NARCIS (Netherlands)

    Winters, M.

    2017-01-01

    Medial tibial stress syndrome (MTSS), also known as shin splints, is one of the most common sports injuries. Although 20% of the jumping and running athletes have MTSS at some point while engaging in sporting activities, we know little about it. There is a lack of knowledge regarding making the

  13. 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-.

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

    Science.gov (United States)

    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.

  15. 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...

  16. Diagnosis and Treatment of the Irritable Bowel Syndrome

    African Journals Online (AJOL)

    Introduction. Irritable bowel syndrome (IBS) is one of the most common conditions encountered in family practice, accounting for about 12% of general practice visits. The incidence of IBS in western communities varies from 10-. 15%, with a female to male ratio of 2:1.1. The incidence of IBS varies minimally with age.

  17. Early diagnosis of Carpal Tunnel Syndrome (CTS) in Indian patients ...

    African Journals Online (AJOL)

    The present study was carried out for early confirmation of clinically diagnosed patients of Carpal Tunnel Syndrome (CTS) by electro-diagnostic tests which included motor conduction, sensory conduction studies and F-wave studies. The aim of the study was early confirmation of clinically suspected patients of CTS by motor ...

  18. Utility of osteosclerotic lesion biopsy in diagnosis of POEMS syndrome: A case report.

    Science.gov (United States)

    Hara, Daisuke; Akiyama, Hisanao; Nukui, Saki; Shimizu, Takahiro; Hoshikawa, Masahiro; Hasegawa, Yasuhiro

    2017-10-01

    We report a case of successful diagnosis of POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) syndrome based on monoclonality that was confirmed by an osteosclerotic lesion biopsy in a patient without pathognomonic symptoms or monoclonal gammopathy, probably because of comorbidities, which included systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome. A 57-year-old woman presented with an approximately 2-year history of numbness in the toes that had gradually spread, along with muscle weakness in both arms and legs. She had been receiving immunosuppressant and corticosteroid therapy since being diagnosed with systemic lupus erythematosus and Sjögren syndrome at the age of 31 years and rheumatoid arthritis at the age of 44 years. Neurological examination revealed predominantly distal hypoesthesia and weakness in a typical stocking-and-glove pattern. Immunoelectrophoresis revealed elevated polyclonal immunoglobulin, which was attributed to her known underlying disease. Biopsy of an osteosclerotic lesion confirmed proliferation of monoclonal plasma cells, leading to a diagnosis of POEMS syndrome. Lenalidomide therapy was started after the diagnosis and the patient had a favorable outcome. Osteosclerotic lesion biopsy can be useful for diagnosis of POEMS syndrome in difficult cases.

  19. Early diagnosis of Lemierre's syndrome based on a medical history and physical findings.

    Science.gov (United States)

    Murata, Yutaka; Wada, Mikio; Kawashima, Atsushi; Kagawa, Keizo

    2013-01-01

    A 37-year-old woman presented with fever and rigor after experiencing respiratory symptoms the previous week that had resolved within a few days. On presentation, her neck was swollen along the right sternocleidomastoid muscle, and chest CT showed pulmonary septic embolisms. Lemierre's syndrome was strongly suspected based on the patient's medical history and physical findings. Further examination revealed venous thrombus, and Fusobacterium necrophorum was later isolated from blood cultures. Antibiotics for anaerobes were administered before a final diagnosis was made, and the patient's symptoms thereafter improved. A rapid diagnosis is essential, since Lemierre's syndrome can be fatal with a diagnostic delay.

  20. Lemierre’s syndrome: current perspectives on diagnosis and management

    Directory of Open Access Journals (Sweden)

    Johannesen KM

    2016-09-01

    Full Text Available Katrine M Johannesen,1 Uffe Bodtger1–3 1Department of Lung Medicine, Naestved Hospital, Naestved, 2Institute for Regional Health Research, University of Southern Denmark, Odense, 3Department of Pulmonology, Zealand University Hospital, Roskilde, Denmark Abstract: This is a systematic review of cases with Lemierre’s syndrome (LS in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4–6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other treatment options included anticoagulants in 46% of cases, which is unwarrantedly high, as to date, no evidence of the positive effects of anticoagulants in LS exists. Only two cases had ligation of the internal jugular vein performed. This review confirms the rare, but severe aspects of LS. Mortality from LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician. Keywords: Lemierre’s syndrome

  1. Anterior open bite: aetiology and management.

    Science.gov (United States)

    Sandler, Paul Jonathan; Madahar, Arun K; Murray, Alison

    2011-10-01

    Anterior open bite has a multi-factorial aetiology comprising: genetically inherited skeletal pattern, soft tissue effect and digit-sucking habits. To formulate an appropriate treatment plan, accurate diagnosis is essential. Simple open bites may sometimes resolve completely during the transition from mixed to permanent dentition, if the digit-sucking habit is broken. More significant open bites, however, sometimes extending right back to the terminal molars, rarely resolve spontaneously and will often require complex orthodontic treatment, involving active molar intrusion or even major orthognathic surgery. Unfortunately, surgery has associated risks attached, including pain, swelling, bruising, altered nerve sensation and, occasionally, permanent anaesthesia, as well as involving significant costs, as with any major surgical procedure under general anaesthesia. The introduction of Temporary Anchorage Devices (TADs) has expanded the possibilities of orthodontic treatment, beyond traditional limitations of tooth movement. Molar intrusion can be successfully carried out without the need for major surgical intervention, thus avoiding all the attendant risks and disadvantages. This paper provides an overview of anterior open bite and uses an illustrative case where open bite was successfully treated with a combination of fixed appliance therapy and TADs. Anterior open bite is commonly seen in general practice. A knowledge of the possible aetiological factors and their potential management should be understood by general dental practitioners. The increased popularity of TADS allows a new and less invasive approach to management of these cases.

  2. [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.

  3. MR diagnosis and clinical management of whiplash injury syndrome of spinal cord

    International Nuclear Information System (INIS)

    Lin Shixu; Lin Daiying; Wu Xianheng; Zeng Xianting

    2003-01-01

    Objective: To study the MR manifestations of whiplash injury syndrome of spinal cord. Methods: MR images of 21 cases diagnosed as whiplash injury syndrome were retrospectively studied. Those images included transverse and sagittal views and coronal scan had been performed in some cases. Results: MRI inspection safely and objectively reveals the extent of the spinal injury, and helps the anticipation of the prognosis. Conclusion: MRI is the first choice of the imaging modalities assessing the whiplash injury syndrome of the spinal cord. An early diagnosis is valuable to clinical management and rehabilitation

  4. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

    Science.gov (United States)

    Jiang, Y L; Qi, Q W; Zhou, X Y; Geng, F F; Bai, J J; Hao, N; Liu, J T

    2017-10-25

    Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys. These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation. Results: The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal. CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region. Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion: 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys. A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

  5. 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. 

  6. Two- and three-dimensional prenatal sonographic diagnosis of prune-belly syndrome.

    Science.gov (United States)

    Chen, Lizhu; Cai, Ailu; Wang, Xiaoguang; Wang, Bing; Li, Jingyu

    2010-06-01

    We report the prenatal diagnosis of 6 cases of Prune-belly syndrome in the 2(nd) trimester. The sonographic diagnosis was based on the findings of oligohydramnios, renal anomalies, and a lower abdominal cystic mass representing the abnormal dilatation of the bladder on conventional 2-dimensional sonographic examination. We discuss the role of Doppler imaging and 3-dimensional sonography as complementary methods to conventional sonography. Four of our 6 cases were confirmed with associated defects.

  7. Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

    OpenAIRE

    Raffan, Eleanor; Hurst, Liam A.; Turki, Saeed Al; Carpenter, Gillian; Scott, Carol; Daly, Allan; Coffey, Alison; Bhaskar, Sanjeev; Howard, Eleanor; Khan, Naz; Kingston, Helen; Palotie, Aarno; Savage, David B.; O'Driscoll, Mark; Smith, Claire

    2011-01-01

    Genetic diagnosis of inherited metabolic disease is conventionally achieved through syndrome recognition and targeted gene sequencing, but many patients receive no specific diagnosis. Next-generation sequencing allied to capture of expressed sequences from genomic DNA now offers a powerful new diagnostic approach. Barriers to routine diagnostic use include cost, and the complexity of interpreting results arising from simultaneous identification of large numbers of variants. We applied exome-w...

  8. Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

    Directory of Open Access Journals (Sweden)

    G. Ciana

    2011-01-01

    Full Text Available Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS.

  9. Premature birth with complicated perinatal course delaying diagnosis of prader-willi syndrome.

    Science.gov (United States)

    Ciana, G; Fertz, M C; Pecile, V; Demarini, S

    2011-01-01

    Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS.

  10. Normal-weight obesity syndrome: diagnosis, prevalence, and clinical implications.

    Science.gov (United States)

    Franco, Lana P; Morais, Carla C; Cominetti, Cristiane

    2016-09-01

    The growing concern about the impact of overweight on health has led to studies that shed light on types of obesity other than the classic model based on body mass index. Normal-weight obesity syndrome is characterized by excess body fat in individuals with adequate body mass index (18.5-24.9 kg/m(2)). This condition increases the risk of cardiovascular morbidity and mortality and other conditions associated with chronic diseases, such as insulin resistance, hypertension, and dyslipidemia. The aims of this review are to define the diagnostic criteria for normal-weight obesity syndrome and to examine the risks associated with this condition in order to promote preventive measures and early treatment for affected individuals. © The Author(s) 2016. Published by Oxford University Press on behalf of the International Life Sciences Institute. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  11. [Tics and Tourette syndrome: diagnosis, course and treatment principles].

    Science.gov (United States)

    Houeto, Jean-Luc; Giré, Pauline

    2008-02-01

    The term "Tourette syndrome" designates the combination of tics with other symptoms. Gilles de la Tourette disease is one of its most frequent causes. It combines motor and vocal tics, with no identifiable cause, with self-mutilation and variable psychiatric comorbidity that may include obsessive-compulsive disorder (OCD) and other anxiety disorders, mood and personality disorders, and a syndrome of hyperactivity with attention disorders. The prevalence of Tourette syndrome is estimated at 0.1-1% of the general population. The condition begins during childhood and develops in a succession of periods of relative aggravation and remission of the tics. Most patients show improvement at the end of adolescence, but symptoms can persist into adulthood in approximately one third of patients. The cause of Gilles de la Tourette disease is unknown, but the role of genetic susceptibility has been suggested together with dysfunctions of the dopaminergic system and of neuron networks in associative and limbic areas of the basal ganglia and the prefrontal cortex. Treatment of Tourette syndrome and severe tics is often difficult and requires a multidisciplinary approach (neurologist, psychiatrist, psychologist and social workers). In mild forms, information and psychological management are usually recommended. Drug treatments--including neuroleptics--are essential in the moderate to severe forms of the disease. Psychiatric comorbidities, when present, often justify specific treatment. For the most severe forms of Gilles de la Tourette disease, preliminary results of treatment by deep brain stimulation of the associative and limb areas of the thalamus or pallidum have produced real hope of treatment, but nonetheless require confirmation.

  12. Atlantoaxial instability in Marfans syndrome. Diagnosis and treatment

    International Nuclear Information System (INIS)

    Levander, B.; Mellstroem, A.; Grepe, A.; Karolinska Sjukhuset, Stockholm

    1981-01-01

    A case of Marfans syndrome is described in which progressive neurological signs and symptoms were produced by flexion of the head. Radiological examinations revealed hypermotility between the atlas and axis, as well as compression of the medulla oblongata by the odontoid process on flexion, since low positioned cerebellar tonsils prevented dorsal shift of the oblongata. The signs and symptoms disappeared after occipitocervical internal transfixation. (orig.)

  13. Early prenatal diagnosis of a lumbo-costo-vertebral syndrome.

    Science.gov (United States)

    Pristavu, Anda Ioana; Furnica, Cristina; Ifrim, Mona Mihaela; Popovici, Razvan Mihai

    2017-09-13

    Lumbo-costo-vertebral syndrome (LCVS) is a rare type of lumbar hernia with associated abnormalities of the vertebral bodies, ribs, and trunk muscles. Only a few cases have been reported in the literature, all of which were diagnosed after birth. We present a case of LCVS diagnosed early in the second trimester of pregnancy using two- and three-dimensional ultrasound. In our case, the associated anomalies were: multiple costovertebral anomalies, lumbar hernia, anal imperforation, left hand supernumerary digit, and clubfoot.

  14. 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...

  15. 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.

  16. Diagnosis and treatment of polycystic ovarian syndrome in adolescents.

    Science.gov (United States)

    Nicandri, Katrina F; Hoeger, Kathleen

    2012-12-01

    To review what is understood about the pathophysiology of polycystic ovarian syndrome (PCOS), the diagnostic challenges of PCOS in adolescent women, associated risk factors, as well as the best evidence-based treatment options for adolescence. Diagnosing PCOS in adolescents requires a unique set of criteria for which no single marker currently exists. Adolescents at high risk for developing the syndrome are congenital virilization, low birth weight, premature pubarche, central precocious puberty, large for gestational age girls born to overweight mothers, obesity syndromes, insulin-resistant features, and girls born to parents with PCOS, central obesity, or diabetes in whom PCOS ought to be suspected when associated with irregular menses. Insulin, hyperandrogenemia, and adipocytokines are integral players in the pathophysiology of PCOS. PCOS may be an inheritable trait; however, no gene has yet been identified. Quality of life remains a concern for young women with PCOS. Lifestyle modifications geared to prevent long-term sequelae remain the first-line treatment in conjunction with oral contraceptive pills. Identifying PCOS in adolescents remains a diagnostic dilemma, but early intervention and treatment can improve long-term health.

  17. Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis.

    Science.gov (United States)

    Faustino, Ana; Paiva, Luís; Morgadinho, Ana; Trigo, Emília; Botelho, Ana; Costa, Marco; Leitão-Marques, António

    2014-02-01

    Sneddon syndrome is a rare clinical entity characterized by the association of ischemic cerebrovascular disease and livedo reticularis. The authors report a case of stroke and myocardial infarction in a 39-year-old man with Sneddon syndrome and antiphospholipid syndrome who subsequently met some criteria for systemic lupus erythematosus, highlighting the complexity of cardiovascular involvement in systemic diseases. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  18. Reassessing the reliability of the salivary cortisol assay for the diagnosis of Cushing syndrome.

    Science.gov (United States)

    Zhang, Qian; Dou, Jingtao; Gu, Weijun; Yang, Guoqing; Lu, Juming

    2013-10-01

    The cortisol concentration in saliva is 10-fold lower than total serum cortisol and accurately reflects the serum concentration, both levels being lowest around midnight. The salivary cortisol assay measures free cortisol and is unaffected by confounding factors. This study analysed published data on the sensitivity and specificity of salivary cortisol levels in the diagnosis of Cushing syndrome. Data from studies on the use of different salivary cortisol assay techniques in the diagnosis of Cushing syndrome, published between 1998 and 2012 and retrieved using Ovid MEDLINE®, were analysed for variance and correlation. For the 11 studies analysed, mean sensitivity and specificity of the salivary cortisol assay were both >90%. Repeated measurements were easily made with this assay, enabling improved diagnostic accuracy in comparison with total serum cortisol measurements. This analysis confirms the reliability of the saliva cortisol assay as pragmatic tool for the accurate diagnosis of Cushing syndrome. With many countries reporting a rising prevalence of metabolic syndrome, diabetes and obesity--in which there is often a high circulating cortisol level--salivary cortisol measurement will help distinguish these states from Cushing syndrome.

  19. [CARDIORENAL SYNDROME: CLINICAL FEATURES, EARLY DIAGNOSIS AND TREATMENT AT FAMILY MEDICINE].

    Science.gov (United States)

    Marković, B Bergman

    2016-12-01

    The interdependent damage to the heart and kidney organ systems is defined as cardiorenal syndrome, a complex pathophysiological disorder of the heart and kidney in which acute or chronic dysfunction of one organ can lead to acute or chronic damage to the other. Identification and early diagnosis of some subtypes of cardiorenal syndrome very often begin at family physician office, however, the use of simple and reliable diagnostic procedures such as MICE score using ECG and biomarkers has not been implemented yet. The clinical picture, diagnosis and treatment vary according to the 5 cardiorenal syndrome subtypes, as described herein. Rational diagnosis of heart failure at family medicine office should include biomarkers (BNP and NT-pro BNP) before performing ultrasound of the heart, while for kidneys creatinine and estimated glomerular filtration rate are still in use, but not cysteine C and NGAL. Diagnostic procedure for suspected heart failure at family medicine office should include kidney function estimate and vice versa. Access to treatment of cardiorenal syndrome differs depending on the specialty to which the patient is referred first, i.e. consultant examination, cardiologist or nephrologist. A multidisciplinary approach to treatment of cardiorenal syndrome is still lacking.

  20. Prenatal diagnosis of the Dandy-Walker syndrome by sonography and computed tomography

    International Nuclear Information System (INIS)

    Toelly, E.; Ebner, F.; Oberbauer, R.W.

    1984-01-01

    A case of Dandy-Walker-syndrome is presented, comparing the value of sonography and CT in intrauterine diagnosis. Together with a review of the literature of the subject, pathogenesis, morphology and prognosis in regard to the psychomotoric development are discussed. (orig.) [de

  1. Brazilian consensus on guidelines for diagnosis and treatment for restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Alan Christmann Fröhlich

    2015-03-01

    Full Text Available The Consensus on restless legs syndrome is an effort of neurologists from several Brazilian states, which tirelessly reviewed the literature of recent years in search of evidence, both in regard to diagnosis and treatment, according to the Oxford Centre for Evidence-based Medicine.

  2. Does DSM-IV Have Equivalents for the Parental Alienation Syndrome (PAS) Diagnosis?

    Science.gov (United States)

    Gardner, Richard A.

    2003-01-01

    Child custody evaluators commonly find themselves confronted with resistance when they attempt to use the term parental alienation syndrome (PAS) in courts of law. The purpose of this article is to elucidate the reasons for the reluctance to use the PAS diagnosis and the applicability of parental alienation, as well as current DSM-IV substitute…

  3. Classification and Clinical Diagnosis of Fibromyalgia Syndrome: Recommendations of Recent Evidence-Based Interdisciplinary Guidelines

    OpenAIRE

    Fitzcharles, Mary-Ann; Shir, Yoram; Ablin, Jacob N.; Buskila, Dan; Amital, Howard; Henningsen, Peter; Häuser, Winfried

    2013-01-01

    Objectives. Fibromyalgia syndrome (FMS), characterized by subjective complaints without physical or biomarker abnormality, courts controversy. Recommendations in recent guidelines addressing classification and diagnosis were examined for consistencies or differences. Methods. Systematic searches from January 2008 to February 2013 of the US-American National Guideline Clearing House, the Scottish Intercollegiate Guidelines Network, Guidelines International Network, and Medline for evidence-ba...

  4. Possible applications of RIA of LH and FSH in diagnosis of Stein-Leventhal syndrome

    International Nuclear Information System (INIS)

    Zenisek, L.; Talas, M.; Stehlikova, J.; Fingerova, H.; Duskova, M.

    1981-01-01

    LH determination in the serum significantly assists in diagnosing polycystic ovaries. Values exceeding 22 mIU/ml serum are indicative of a typical picture of polycystic ovaries similar to those found in the Stein-Leventhal syndrome. Lower levels indicate an atypical picture of polycystic ovaries or low-cyst ovary degeneration. FSH level cannot be used for this diagnosis. (author)

  5. Possible applications of RIA of LH and FSH in diagnosis of Stein-Leventhal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Zenisek, L.; Talas, M.; Stehlikova, J.; Fingerova, H.; Duskova, M.

    1981-01-01

    LH determination in the serum significantly assists in diagnosing polycystic ovaries. Values exceeding 22 mIU/ml serum are indicative of a typical picture of polycystic ovaries similar to those found in the Stein-Leventhal syndrome. Lower levels indicate an atypical picture of polycystic ovaries or low-cyst ovary degeneration. FSH level cannot be used for this diagnosis.

  6. Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

    NARCIS (Netherlands)

    Loeys, B.L.; Nuytinck, L.; Acker, P. van; Walraedt, S.; Bonduelle, M.; Sermon, K.; Hamel, B.C.J.; Sanchez, A.; Messiaen, L.; Paepe, A. de

    2002-01-01

    Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2-3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Prenatal diagnosis was until recently mainly performed in familial cases

  7. Delay and poor diagnosis of Down syndrome in KwaZulu-Natal ...

    African Journals Online (AJOL)

    626. June 2016, Vol. 106, No. 6. Down syndrome (DS) is the most common chromosomal disorder ... 1 Department of Paediatrics and Child Health, School of Clinical Medicine, College of Health Sciences, Nelson R Mandela School of Medicine,. University of ..... in low- and middle-income countries.[15] If diagnosis, which is ...

  8. Diagnosis of carpal tunnel syndrome: interobserver reliability of the blinded scratch-collapse test

    NARCIS (Netherlands)

    Blok, Robin D.; Becker, Stéphanie J. E.; Ring, David C.

    2014-01-01

    The reliability of the scratch-collapse test for diagnosis of carpal tunnel syndrome (CTS) has not been tested by independent investigators. This study measured the reliability of the scratch-collapse test comparing the treating hand surgeon and blinded evaluators. We performed a prospective

  9. Changing facial phenotype in Cohen syndrome : towards clues for an earlier diagnosis

    NARCIS (Netherlands)

    El Chehadeh-Djebbar, Salima; Blair, Edward; Holder-Espinasse, Muriel; Moncla, Anne; Frances, Anne-Marie; Rio, Marlene; Debray, Francois-Guillaume; Rump, Patrick; Masurel-Paulet, Alice; Gigot, Nadege; Callier, Patrick; Duplomb, Laurence; Aral, Bernard; Huet, Frederic; Thauvin-Robinet, Christel; Faivre, Laurence

    Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis is

  10. Epilepsy with myoclonic–atonic seizures (Doose syndrome: When video-EEG polygraphy holds the key to syndrome diagnosis

    Directory of Open Access Journals (Sweden)

    Pinelopi Dragoumi

    2016-01-01

    The EEG and polygraphy findings are suggestive of a generalized epilepsy characterized by predominantly myoclonic seizures with atonic components. This raises the possibility whether a variant of epilepsy with myoclonic–atonic seizures (Doose syndrome may be the underlying diagnosis for this girl. A trial of the ketogenic diet would therefore be considered as an option in her future management in view of its beneficial effect in this condition.

  11. MR imaging in the diagnosis of the os trigonum syndrome

    International Nuclear Information System (INIS)

    Tamburrini, O.; Porpiglia, H.; Barresi, D.; Bertucci, B.; Console, D.

    1999-01-01

    In this paper is investigated the yield of Magnetic Resonance Imaging (MRI) in hind foot conditions, particularly the os trigonum syndrome, which are very difficult to diagnose clinically. 7 consecutive patients were examined. They were complaining of hind foot pain for more than 4 months (male:female=1:6; age range 16-22 years, average 18.6). Three patients practiced competitive sports and 4 ballet. It was performed conventional radiography (orthogonal projections) and then MRI with a 0.5 T superconductive unit with surface coils; MR images were acquired with T1-weighted spin-echo (SE), T2-weighted gradient-echo (GRE), and fast inversion recovery (FIR) fat-suppressed sequences with 4 mm thickness and 0 mm gap. In 2 cases the os trigonum had irregular margins with subchondral sclerosis and widened synchondrosis. In 3 patients it was found flessor hallucis longus tenosynovitis, likely caused by tendon compression and displacement within its sheath; there were neither os trigonum marrow edema nor synchondrosis widening. One patient had os trigonum hypertrophy, mild synchondrosis widening and marrow edema, in the os trigonum and the posterior aspect of talus. One patient had the os trigonum, but no signs referable to the os trigonum syndrome. In the posterior impingement syndrome, the objective is to show inflammatory changes in the posterior capsule of the ankle joint, adjacent ligaments, tendons and chondrosynovial surface. MR provides important information on soft tissues involvement, synovial reaction, chondral and subchondral bone injuries and the association of flexor hallucis longus synovitis, if present. MRI also yields detailed information for correct therapeutic approach. In conclusion, MRI appears to be the technique of choice, after conventional radiography, thanks to its non invasiveness, multi planarity, and high spatial and contrast resolution [it

  12. Fibromyalgia Syndrome: An Overview of Pathophysiology, Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Firdous Jahan

    2012-05-01

    Full Text Available Fibromyalgia Syndrome (FMS is a chronic condition causing pain, stiffness, and tenderness of the muscles, tendons, and joints. It is also characterized by restless sleep, tiredness, fatigue, anxiety, depression, and disturbances in bowel functions. The etiology of fibromyalgia remains unknown, but recent advances and discoveries have helped to unravel some of the mysteries of this disease. Research highlights some of the biochemical, metabolic, and immunoregulatory abnormalities associated with fibromyalgia. Management of FMS at the present time is very difficult as it has multiple etiological factors and psychological predispositions; however, a patient centered approach is essential to handle this problem.

  13. The role of ultrasonographic measurements of the median nerve in the diagnosis of carpal tunnel syndrome

    International Nuclear Information System (INIS)

    Yesildag, A.; Kutluhan, S.; Sengul, N.; Koyuncuoglu, H.R.; Oyar, O.; Guler, K.; Gulsoy, U.K.

    2004-01-01

    AIM: The aim of study was to assess the usefulness of ultrasonographic measurements of the median nerve in the diagnosis of carpal tunnel syndrome. MATERIALS AND METHODS: Eighty-six patients with carpal tunnel syndrome confirmed by electromyography and 45 asymptomatic controls were included in the study and underwent high-resolution ultrasonography of the wrists. The cross-sectional area and flattening ratio at the level of the pisiform bone of the proximal carpal tunnel were measured. Data from the patient group and control group were compared to determine the statistical significance. The accuracy of the ultrasonographic diagnostic criteria for carpal tunnel syndrome was evaluated using receiver-operating characteristic (ROC) analysis. RESULTS: One hundred and forty-eight wrists of 86 patients with carpal tunnel syndrome and 76 wrists of 45 control patients were examined. All measurements showed significant differences between patients and controls. Increased cross-sectional area of the median nerve was the most predictive measurement of carpal tunnel syndrome. Using the ROC curve, a cut-off value of >10.5 mm 2 at the level of pisiform bone provided a diagnostic sensitivity of 89% and specificity of 94.7% CONCLUSION: The ultrasonographic measurement of the median nerve cross-sectional area is a sensitive, specific and useful non-invasive method for the diagnosis of carpal tunnel syndrome

  14. Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

    Science.gov (United States)

    Hu, Xuyun; Li, Hongdou; Gui, Baoheng; Xu, Yufei; Wang, Jin; Li, Niu; Su, Jiasun; Zhang, Shujie; Song, Yanning; Wang, Yi; Luo, Jingsi; Fan, Xin; Wang, Jian; Chen, Shaoke; Gong, Chunxiu; Shen, Yiping

    2017-11-01

    3-M syndrome is a clinically recognizable yet under-diagnosed primordial growth retardation disorder. Molecular testing for CUL7, OBSL1 or CCDC8 genes can provide confirmed diagnosis for patients at prenatal or early age. So far, the clinical and molecular features of Chinese 3-M syndrome patients have not been reported. In this article, the authors performed prenatal and early diagnosis of Chinese patients with 3-M syndrome by Next-Generation Sequencing. The authors reported six unrelated Chinese 3-M syndrome patients. Five of the six patients were diagnosed before two years of age including one prenatal case. The authors identified six novel pathogenic variants and five previously reported pathogenic variants. The authors' clinical evaluations indicated that Chinese 3-M syndrome patients share similar recognizable features as those reported in patients of other ethnic background. The authors noticed some uncommon features in this small cohort of Chinese patients such as delayed motor development at early ages, undelayed bone age and presence of lower eyelid fat pads. The authors' study of Chinese 3-M syndrome patients revealed novel mutations and clinical phenotypes. Copyright © 2017. Published by Elsevier B.V.

  15. 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

  16. Diagnosis and treatment of diarrhea-predominant irritable bowel syndrome

    Directory of Open Access Journals (Sweden)

    Lacy BE

    2016-02-01

    Full Text Available Brian E Lacy Division of Gastroenterology and Hepatology, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA Abstract: Irritable bowel syndrome (IBS is one of the most common gastrointestinal disorders worldwide. The economic impact of IBS on the health care system is substantial, as is the personal impact on patients. Patients with diarrhea-predominant IBS (IBS-D comprise a substantial proportion of the overall IBS population. Primary care providers are often the first point of contact for patients with IBS-D and can accurately diagnose IBS after a careful history and examination without extensive diagnostic tests. Several pharmacologic treatments (eg, loperamide, alosetron, and antidepressants and non-pharmacologic treatments (eg, dietary modification and probiotics are available for IBS-D, but restrictions on use (eg, alosetron or the lack of controlled trial data showing reductions in both global and individual IBS-D symptoms (eg, bloating, pain and stool frequency emphasize the need for alternative treatment options. Two newer medications (eluxadoline and rifaximin were approved in May 2015 for the treatment of IBS-D, and represent new treatment options for this common gastrointestinal condition. Keywords: abdominal pain, antibiotic, bloating, diarrhea, irritable bowel syndrome

  17. Dynamic diagnosis of "fishmouthing" syndrome, an overlooked complication of blepharoplasty.

    Science.gov (United States)

    McCord, Clinton D; Miotto, Gabriele C

    2013-05-01

    Dysfunction and/or dehiscence of the lateral canthus is 1 source of symptomatic eyelid closure disorder after blepharoplasty. Because the resulting concentric blinking movement resembles mouth closure in a fish, the name "fishmouthing" syndrome (FS) was given to this condition. Fishmouthing syndrome appears to be an overlooked complication of blepharoplasty. The authors performed dynamic assessments of patients who had eyelid discomfort after blepharoplasty to establish the clinical signs of FS. Preoperative and postoperative videos of 36 patients who presented for secondary blepharoplasty were analyzed retrospectively. All 36 patients experienced symptoms of dry eyes and eye discomfort after their initial blepharoplasty and desired symptomatic and cosmetic improvement. The dynamic signs and diagnostic criteria for FS were established clinically and through video analysis of patients' blinking movements. The most common clinical characteristics of FS included lash deformity ("cow lash" sign), abnormal medial displacement of the lateral canthus during blinking, deformity (rounding/narrowing) of the lateral scleral triangle, and visible eyelid closure deficiency or gapping. Other characteristics were lower-lid retraction and compensatory hypercontraction of the orbicularis oculi adjacent to the inner canthus. Patients with FS present with a combination of clinical symptoms and signs and are best diagnosed through dynamic visualization of the animated tissue during blinking. Evaluation of preoperative videos is an essential tool for surgical planning and for analyzing the results, both before and after corrective surgery, in patients with potential FS. 4.

  18. Novel Implications in Molecular Diagnosis of Lynch Syndrome

    Directory of Open Access Journals (Sweden)

    Raffaella Liccardo

    2017-01-01

    Full Text Available About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP and Lynch syndrome (LS. In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. In some cases, these VUSs may make a more substantial overall contribution to cancer risk than the well-assessed severe Mendelian variants. Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer. In this paper, through a review of the recent literature, we have speculated a novel inheritance model in the Lynch syndrome; this could pave the way toward new diagnostic perspectives.

  19. Diagnosis of Brugada's syndrome after subarachnoid injection of prilocaine.

    Science.gov (United States)

    Oliván, B; Arbeláez, A; de Miguel, M; Pelavski, A

    2016-10-01

    Brugada syndrome is an autosomal dominant genetic disease affecting sodium ion channels. It is characterised by right bundle branch block and ST elevation in the right precordial leads, and with no structural cardiac abnormalities. It is associated with sudden death. This disease may be unmasked by certain drugs and sudden changes in autonomic tone. Local anaesthetics may increase ECG changes due to a blockade of the sodium channels, mainly depending on the dose and the type of anaesthetic. Thus, there have been reported electrocardiographic changes consistent with Brugada syndrome, triggered after epidural or paravertebral infusion of bupivacaine and ropivacaine. The case is described of a 66 years old man, scheduled for inguinal herniorrhaphy as an outpatient. He had no history of syncope or arrhythmias. After spinal anaesthesia with 40mg of prilocaine the ECG showed ST elevation>2mm, and right bundle branch block in V1-V3. Copyright © 2015 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  20. AETIOLOGY OF RESPIRATORY DISTRESS AND RISK FACTORS ASSOCIATED WITH DEVELOPMENT OF RESPIRATORY DISTRESS IN TERM NEWBORNS

    Directory of Open Access Journals (Sweden)

    M. Amarendra

    2017-02-01

    Full Text Available BACKGROUND Respiratory distress is a common problem encountered within the first 48-72 hours of life. It is one of the commonest cause of admission to NICU. So, it is very important to know the aetiology and risk factors associated with development of respiratory distress to provide better management. The aim of the study is to study the aetiology of respiratory distress and the risk factors associated with development of respiratory distress in term newborns. MATERIALS AND METHODS Prospective study of 100 term newborns admitted in our NICU with respiratory distress. General information, history and clinical examination findings of mother and newborn were documented. Time of onset of respiratory distress and the severity of the distress were documented. Severity was assessed using Downe’s clinical scoring. X-ray was done at 6 hours in all newborns. Various aetiologies and risk factors associated with respiratory distress were assessed. RESULTS In our study, the most common cause of respiratory distress was transient tachypnoea of newborn seen in 59% cases followed by early onset sepsis 20% cases and meconium aspiration syndrome 17% cases. Majority of newborn had severe distress (42% followed by moderate distress (35% and mild distress (23%. The risk factors associated with development of respiratory distress were low socioeconomic status, more than four per vaginal examinations, meconium-stained liquor, caesarean section, low birth weight and male sex of the baby. CONCLUSION Transient tachypnoea of newborn is the most common cause of respiratory distress in term newborns and the risk factors for development of respiratory distress are low socioeconomic status, more than four per vaginal examinations, meconiumstained liquor, caesarean section, low birth weight and male sex of the baby. Early diagnosis and management of respiratory distress in newborn is needed to decrease the severity of the disease and to reduce the mortality.

  1. AUA guideline for the diagnosis and treatment of interstitial cystitis/bladder pain syndrome.

    Science.gov (United States)

    Hanno, Philip M; Burks, David Allen; Clemens, J Quentin; Dmochowski, Roger R; Erickson, Deborah; Fitzgerald, Mary Pat; Forrest, John B; Gordon, Barbara; Gray, Mikel; Mayer, Robert Dale; Newman, Diane; Nyberg, Leroy; Payne, Christopher K; Wesselmann, Ursula; Faraday, Martha M

    2011-06-01

    To provide a clinical framework for the diagnosis and treatment of interstitial cystitis/bladder pain syndrome. A systematic review of the literature using the MEDLINE® database (search dates 1/1/83-7/22/09) was conducted to identify peer reviewed publications relevant to the diagnosis and treatment of interstitial cystitis/bladder pain syndrome. Insufficient evidence-based data were retrieved regarding diagnosis and, therefore, this portion of the Guideline is based on Clinical Principles and Expert Opinion statements. The review yielded an evidence base of 86 treatment articles after application of inclusion/exclusion criteria. These publications were used to create the majority of the treatment portion of the Guideline. When sufficient evidence existed, the body of evidence for a particular treatment was assigned a strength rating of A (high), B (moderate) or C (low). Additional treatment information is provided as Clinical Principles and Expert Opinion when insufficient evidence existed. See text and algorithm for definitions, and detailed diagnostic management, and treatment frameworks. The evidence-based guideline statements are provided for diagnosis and overall management of interstitial cystitis/bladder pain syndrome as well as for various treatments. The panel identified first through sixth line treatments as well as developed guideline statements on treatments that should not be offered. Interstitial cystitis/bladder pain syndrome is best identified and managed through use of a logical algorithm such as is presented in this Guideline. In the algorithm the panel identifies an overall management strategy for the interstitial cystitis/bladder pain syndrome patient. Diagnosis and treatment methodologies can be expected to change as the evidence base grows in the future. Copyright © 2011 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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.

  3. Diagnosis and Treatment of Chronic Exertional Compartment Syndrome - a Proposition for an Algorithm

    DEFF Research Database (Denmark)

    Larsen, Peter Birk; Jensen, Steffen Skov

    Title: Diagnosis and treatment of chronic exertional compartment syndrome - a proposition for an algorithm based on case series of patients treated at Sports Medicine Division, Department of Orthopaedic Surgery, Viborg Regional Hospital, Denmark Background: Chronic exertional compartment syndrome...... (CECS) is a well recognized but often under diagnosed cause of chronic exertional lower extremity pain, most often encountered in young physically active individuals. Aim of Study: The aim of this preliminary study is to present an algorithm for diagnosis and treatment of CECS. We hypothesize...... in conjunction with a thorough medical history formed the basis for the diagnosis. Results: 11 patients were offered surgical treatment consisting of EASF of the affected compartment (10 bilateral and 1 unilateral, 8 affected in specific compartments and 3 affected in all compartments. Only 1 patient required...

  4. 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.

  5. CT diagnosis of sturge-Weber syndrome: a report of 9 cases

    International Nuclear Information System (INIS)

    Wu Rongxin; Xu Guangyan

    2008-01-01

    Objective: To investigate the pathologic changes and CT findings of Sturge-Weber syndrome in order to improve the diagnostic ability. Methods: The clinical and CT manifestations of 9 cases with Sturge-Weber syndrome were studied retrospectively. Results Characteristic CT signs were found in all the 9 cases, which were manifested as gyms-like or curved-stripe calcifications at uni- lateral or bilateral surface of cerebral lobe. 5 cases were accompanied with thickening of the cranium on the lesion side and cerebral lobar atrophy was occurred in 7 cases. Conclusions The gyrif0rm calcifications in cerebral cortex is a characteristic finding of Sturge-Weber syndrome. CT scanning is the most important means in the diagnosis of Sturge-Weber syndrome. (authors)

  6. 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.

  7. 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.

  8. Diagnosis and clinical genetics of Cushing syndrome in pediatrics

    Science.gov (United States)

    Stratakis, Constantine A.

    2016-01-01

    SYNOPSIS Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin (ACTH) in the pituitary gland (this form of CS is called Cushing disease) or elsewhere (ectopic CS), tumors that produce corticotropin-releasing hormone (CRH) anywhere (mostly neuroendocrine tissues), and finally adrenocortical masses that produce cortisol, such as adrenocortical cancer (ACC) or adenomas, and bilateral adrenocortical hypeprlasia (BAHs). ACC is a very rare cause of CS in children but should be excluded first, especially among younger patients. CS in children is often caused by germline or somatic mutations in an expanding list of genes with implications for the prognosis of the patients and for their families. CS should be early recognized in children; otherwise, it can lead to significant morbidity and mortality. All patients with suspected CS should be referred to specialized clinical centers for work-up; these centers should have access to experienced endocrine and neurological surgeons. PMID:27241967

  9. Purple Urine Bag Syndrome: A Rare Spot Diagnosis.

    Science.gov (United States)

    Kalsi, Dilraj S; Ward, Joel; Lee, Regent; Handa, Ashok

    2017-01-01

    Purple urine bag syndrome (PUBS) is a complication of urinary tract infections (UTIs) where catheter bags and tubing turn purple. It is alarming for patients, families, and clinicians; however, it is in itself a benign phenomenon. PUBS is the result of UTIs with specific bacteria that produce sulphatases and phosphatases which lead tryptophan metabolism to produce indigo (blue) and indirubin (red) pigments, a mixture of which becomes purple. Risk factors include female gender, immobility, constipation, chronic catheterisation, and renal disease. Management involves reassurance, antibiotics, and regular changing of catheters, although there are debates regarding how aggressively to treat and no official guidelines. Prognosis is good, but PUBS is associated with high morbidity and mortality due to the backgrounds of patients. Here, we review the literature available on PUBS, present a summary of case studies from the last five years, and propose the Oxford Urine Chart as a tool to aid such diagnoses.

  10. Purple Urine Bag Syndrome: A Rare Spot Diagnosis

    Directory of Open Access Journals (Sweden)

    Dilraj S. Kalsi

    2017-01-01

    Full Text Available Purple urine bag syndrome (PUBS is a complication of urinary tract infections (UTIs where catheter bags and tubing turn purple. It is alarming for patients, families, and clinicians; however, it is in itself a benign phenomenon. PUBS is the result of UTIs with specific bacteria that produce sulphatases and phosphatases which lead tryptophan metabolism to produce indigo (blue and indirubin (red pigments, a mixture of which becomes purple. Risk factors include female gender, immobility, constipation, chronic catheterisation, and renal disease. Management involves reassurance, antibiotics, and regular changing of catheters, although there are debates regarding how aggressively to treat and no official guidelines. Prognosis is good, but PUBS is associated with high morbidity and mortality due to the backgrounds of patients. Here, we review the literature available on PUBS, present a summary of case studies from the last five years, and propose the Oxford Urine Chart as a tool to aid such diagnoses.

  11. The diagnosis and treatment of the cracked tooth syndrome.

    Science.gov (United States)

    Thomas, G A

    1989-01-01

    Teeth restored with intracoronal restorations that provide no protection of the cusps from occlusal loading may fracture completely or partially. An incomplete dentinal fracture of a vital posterior tooth may cause pain. This condition is commonly known as the "cracked tooth syndrome". Location of the dentinal crack is difficult and must be guided by a precise history, thermal pulp testing and inspection of the dentinal walls within the suspect tooth. The number, extent and direction of the fracture lines may be ascertained readily by using transillumination and magnification. This allows the clinician to distinguish between oblique and vertical cracks. Treatment of oblique incomplete fracture relies on desensitisation of the hypersensitive dentine followed by splinting of the tooth fragments. Treatment of vertical incomplete fracture requires pulpectomy and immediate splinting of the crown. Two case reports are presented.

  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. Enterovesical Fistulae: Aetiology, Imaging, and Management

    Directory of Open Access Journals (Sweden)

    Tomasz Golabek

    2013-01-01

    Full Text Available Background and Study Objectives. Enterovesical fistula (EVF is a devastating complication of a variety of inflammatory and neoplastic diseases. Radiological imaging plays a vital role in the diagnosis of EVF and is indispensable to gastroenterologists and surgeons for choosing the correct therapeutic option. This paper provides an overview of the diagnosis of enterovesical fistulae. The treatment of fistulae is also briefly discussed. Material and Methods. We performed a literature review by searching the Medline database for articles published from its inception until September 2013 based on clinical relevance. Electronic searches were limited to the keywords: “enterovesical fistula,” “colovesical fistula” (CVF, “pelvic fistula”, and “urinary fistula”. Results. EVF is a rare pathology. Diverticulitis is the commonest aetiology. Over two-thirds of affected patients describe pathognomonic features of pneumaturia, fecaluria, and recurrent urinary tract infections. Computed tomography is the modality of choice for the diagnosis of enterovesical fistulae as not only does it detect a fistula, but it also provides information about the surrounding anatomical structures. Conclusions. In the vast majority of cases, this condition is diagnosed because of unremitting urinary symptoms after gastroenterologist follow-up procedures for a diverticulitis or bowel inflammatory disease. Computed tomography is the most sensitive test for enterovesical fistula.

  14. Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.

    Science.gov (United States)

    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

    2012-02-01

    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 termination, and pre-implantation genetic diagnosis (PGD). In a cross-sectional study, 61 adult PJS patients were asked to complete a questionnaire concerning genetic testing, family planning, PND and PGD. The questionnaire was completed by 52 patients (85% response rate, 44% males) with a median age of 44 (range 18-74) years. A total of 37 (71%) respondents had undergone genetic testing. In all, 24 respondents (46%, 75% males) had children. A total of 15 (29%) respondents reported that their diagnosis of PJS had influenced their decisions regarding family planning, including 10 patients (19%, 9/10 females) who did not want to have children because of their disease. Termination of pregnancy after PND in case of a foetus with PJS was considered 'acceptable' for 15% of the respondents, whereas 52% considered PGD acceptable. In conclusion, the diagnosis of PJS influences the decisions regarding family planning in one third of PJS patients, especially in women. Most patients have a negative attitude towards pregnancy termination after PND, while PGD in case of PJS is judged more acceptable. These results emphasise the importance of discussing aspects regarding family planning with PJS patients, including PND and PGD.

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

    Science.gov (United States)

    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.

  16. [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.

  17. [Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].

    Science.gov (United States)

    Ács, Orsolya Dóra; Péterfia, Bálint; Hollósi, Péter; Haltrich, Irén; Sallai, Ágnes; Luczay, Andrea; Buiting, Karin; Horsthemke, Bernhard; Török, Dóra; Szabó, András; Fekete, György

    2018-01-01

    According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader-Willi syndrome. Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader-Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting analysis and the most commonly used methylation-specific multiplex ligation-dependent probe amplification to confirm Prader-Willi syndrome. We studied 17 clinically suspected Prader-Willi syndrome children and their DNA samples. With self-designed primers, bisulfite-sensitive polymerase chain reaction, high-resolution melting analysis and, as a control, methylation-specific multiplex ligation-dependent probe amplification were performed. Prader-Willi syndrome was genetically confirmed in 6 out of 17 clinically suspected Prader-Willi syndrome patients. The results of high-resolution melting analysis and methylation-specific multiplex ligation-dependent probe amplification were equivalent in each case. Using our self-designed primers and altered bisulfite-specific PCR conditions, high-resolution melting analysis appears to be a simple, fast, reliable and effective method for primarily proving or excluding clinically suspected Prade-Willi syndrome cases. Orv Hetil. 2018; 159(2): 64-69.

  18. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

    Science.gov (United States)

    Teber, Ozge Altug; Gillessen-Kaesbach, Gabriele; Fischer, Sven; Böhringer, Stefan; Albrecht, Beate; Albert, Angelika; Arslan-Kirchner, Mine; Haan, Eric; Hagedorn-Greiwe, Monika; Hammans, Christof; Henn, Wolfram; Hinkel, Georg Klaus; König, Rainer; Kunstmann, Erdmute; Kunze, Jürgen; Neumann, Luitgard M; Prott, Eva-Christina; Rauch, Anita; Rott, Hans-Dieter; Seidel, Heide; Spranger, Stephanie; Sprengel, Martin; Zoll, Barbara; Lohmann, Dietmar R; Wieczorek, Dagmar

    2004-11-01

    To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosis of TCS and evaluated the clinical data, including a scoring system. A total of 27 coding exons of TCOF1 and adjacent splice junctions were analysed by direct sequencing. In 36 patients with a clinically unequivocal diagnosis of TCS, we detected 28 pathogenic mutations, including 25 novel alterations. No mutation was identified in the remaining eight patients with unequivocal diagnosis of TCS and 10 further patients, in whom the referring diagnosis of TCS was clinically doubtful. There is no overt genotype-phenotype correlation except that conductive deafness is significantly less frequent in patients with mutations in the 3' part of the open reading frame. Inter- and intrafamilial variation is wide. Some mutation carriers, parents of typically affected patients, are so mildly affected that the diagnosis might be overlooked clinically. This suggests that modifying factors are important for phenotypic expression. Based on these findings, minimal diagnostic criteria were defined: downward slanting palpebral fissures and hypoplasia of the zygomatic arch. The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described.

  19. 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.

  20. Prader-Willie Syndrome in the Practice of Pediatrician. Modern Approaches to the Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    T.M. Khimenko

    2015-05-01

    Full Text Available Objective. To familiarize the doctors with diagnostic criteria and modern comprehensive approach to the treatment of children with Prader-Willie syndrome. The problems of treatment with growth hormone, social integration of patients were stressed, a clinical case from practice is presented. The analysis of the scientific literature of leading foreign and domestic authors has been carried out. The article presents the current approaches to early diagnosis based on large and small diagnostic criteria already at the first months of life, indications for molecular-genetic testing by fish-method to detect microdeletions of chromosome 15. A case of Prader-Willi syndrome demonstrates the typical clinical manifestations, the need for a multidisciplinary approach and continuous monitoring of patients. Conclusions. Prader-Willi syndrome has characteristic features that can be detected in most patients during the first six months of life, which will made it possible to carry out timely correction of metabolic and hormonal disorders and to improve quality of life. To clarify the diagnosis, genetic testing, which today became available in most regions of Ukraine, is successfully performed. The question of supporting hormone therapy that enables to adjust significantly the phenotype of patients with Prader-Willi syndrome, providing adequate physical development, is still open. Long-term use of recombinant growth hormone can prevent a number of complications characteristic of the syndrome, and to improve the quality of life for patients in the future.

  1. Kleine-Levin syndrome: Etiology, diagnosis, and treatment

    Directory of Open Access Journals (Sweden)

    Ramdurg Santosh

    2010-01-01

    Full Text Available Kleine-Levin syndrome (KLS is a rare sleep disorder mainly affecting teenage boys in which the main features are intermittent hypersomnolence, behavioral and cognitive disturbances, hyperphagia, and in some cases hypersexuality. Each episode is of brief duration varying from a week to 1-2 months and affected people are entirely asymptomatic between episodes. No definite cause has been identified, and no effective treatments are available even though illness is having well-defined clinical features. Multiple relapses occur every few weeks or months, and the condition may last for a decade or more before spontaneous resolution. In this study, PubMed was searched and appropriate articles were reviewed to highlight etiology, clinical features, and management of KLS. On the basis of this knowledge, practical information is offered to help clinicians about how to investigate a case of KLS, and what are the possible treatment modalities available currently for the treatment during an episode and interepisodic period for prophylaxis. Comprehensive research into the etiology, pathophysiology, investigation, and treatments are required to aid the development of disease-specific targeted therapies.

  2. Tricho-Dento-Osseous Syndrome: Diagnosis and Dental Management

    Directory of Open Access Journals (Sweden)

    Ola B. Al-Batayneh

    2012-01-01

    Full Text Available Tricho-dento-osseous (TDO syndrome is a rare, autosomal dominant disorder principally characterised by curly hair at infancy, severe enamel hypomineralization and hypoplasia and taurodontism of teeth, sclerotic bone, and other defects. Diagnostic criteria are based on the generalized enamel defects, severe taurodontism especially of the mandibular first permanent molars, an autosomal dominant mode of inheritance, and at least one of the other features (i.e., nail defects, bone sclerosis, and curly, kinky or wavy hair present at a young age that may straighten out later. Confusion with amelogenesis imperfecta is common; however, taurodontism is not a constant feature of any of the types of amelogenesis imperfecta. Management of TDO requires a team approach, proper documentation, and a long-term treatment and follow-up plan. The aim of treatment is to prevent problems such as sensitivity, caries, dental abscesses, and loss of occlusal vertical dimension through attrition of hypoplastic tooth structure. Another aim is to restore function of the dentition and enhance the esthetics and self-esteem of the patient. This paper proposes treatment approaches that include preventive, restorative, endodontic, prosthetic, and surgical options to management. In addition, it sheds light on the difficulties faced during dental treatment of such cases.

  3. INTEGRATED CLINICAL AND GENETIC APPROACH FOR DIAGNOSIS OF RETT SYNDROME IN CHILDREN

    Directory of Open Access Journals (Sweden)

    I.Yu. Yurov

    2007-01-01

    Full Text Available Rett syndrome represents one of the most important neuropsychiatric genetic diseases. It affects generally girls with the incidence 1:10000–1:15000. Mutations in clinked gene mecp2 are considered as the main cause of the disease. The particular patterns of chromosome x replication (type C are observed in affected females allowing the cytogenetic technique application for the diagnosis. Cytogenetic and molecular genetic studies carried out in the present work allowed us to propose an integrated approach for the diagnosis of this disease. A clinical description, cytogenetic analyses (assessment of an abnormal chromosome X replication type in affected females as well as chromosome complement abnormalities in affected males, molecular cytogenetic assays using DNA probes specific for mecp2 gene region, studying mecp2 mutations, and x chromosome inactivation pattern studies were combined in order to provide the efficient clinical and genetic diagnosis of RTT as well as counseling of family with affected children. The data obtained have shown to increase significantly the efficiency of the diagnosis as well as genetic counseling of families with Rett syndrome affected children.Key words: Rett syndrome, x-chromosome inactivation, mecp2 mutations, replication of chromosome x, children.

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

    Science.gov (United States)

    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.

  5. Diagnosis and prevention of overtraining syndrome: an opinion on education strategies.

    Science.gov (United States)

    Kreher, Jeffrey B

    2016-01-01

    Overtraining syndrome is a condition of maladapted physiology in the setting of excessive exercise without adequate rest. The exact etiology and pathogenesis are unknown and being investigated. Symptoms are multisystem in nature and often representative of underlying hormonal, immunologic, neurologic, and psychologic disturbances. Unfortunately, systematic review of the literature does not clearly direct diagnosis, management, or prevention. However, given the severity of symptoms and impairment to quality of life, prevention of overtraining syndrome should be considered by all who interact with endurance athletes. This article will provide suggestions for management of at-risk athletes despite absence of validated diagnostic tests and preventative measures.

  6. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country

    Energy Technology Data Exchange (ETDEWEB)

    Petersen, M.B.; Brondum-Nielsen, K.; Hansen, L.K.; Wulff, K.

    1995-06-19

    Angelman syndrome (AS) was initially considered a rather rare abnormality, but in later years, with the possibilities for cytogenetic and molecular diagnosis an increasing number of patients have been reported. The incidence is quoted to be around 1:20,000. The etiology of AS is associated with the lack of maternal allele(s) of one or more loci at 15q11-q13, and is considered an effect of parental imprinting of that region, since a similar deficiency of paternal alleles leads to Prader-Willi syndrome. 9 refs., 1 tab.

  7. Emergency department diagnosis of supraspinatus tendon calcification and shoulder impingement syndrome using bedside ultrasonography

    Science.gov (United States)

    2013-01-01

    A 45-year-old woman presented to the emergency department with a 2-day history of severe left shoulder pain made worse with movement. Emergency department (ED) bedside point-of-care static and dynamic ultrasound examination of the supraspinatus tendon revealed supraspinatus tendon calcification with impingement syndrome, and the patient was urgently referred to orthopedics after ED pain control was achieved. Bedside shoulder and supraspinatus tendon evaluation with static and dynamic ultrasonography can assist in the rapid diagnosis of supraspinatus tendon calcification and supraspinatus tendon impingement syndrome in the emergency department. PMID:23398632

  8. Plasma Steroid Metabolome Profiling for Diagnosis and Subtyping Patients with Cushing Syndrome.

    Science.gov (United States)

    Eisenhofer, Graeme; Masjkur, Jimmy; Peitzsch, Mirko; Di Dalmazi, Guido; Bidlingmaier, Martin; Grüber, Matthias; Fazel, Julia; Osswald, Andrea; Beuschlein, Felix; Reincke, Martin

    2018-03-01

    Diagnosis of Cushing syndrome requires a multistep process that includes verification of hypercortisolism followed by identification of the cause of adrenocortical hyperfunction. This study assessed whether pituitary, ectopic, and adrenal subtypes of Cushing syndrome were characterized by distinct plasma steroid profiles that might assist diagnosis. In this retrospective cross-sectional study, mass spectrometric measurements of a panel of 15 plasma steroids were applied to 222 patient samples tested for Cushing syndrome. Disease was excluded in 138 and confirmed in 51 patients with pituitary Cushing syndrome, 12 with ectopic adrenocorticotropin secretion, and 21 with adrenal disease. Another 277 age- and sex-matched hypertensive and normotensive volunteers were included for comparison. Compared with patients without disease, the largest increases in plasma steroids among patients with Cushing syndrome were observed for 11-deoxycortisol (289%), 21-deoxycortisol (150%), 11-deoxycorticosterone (133%), corticosterone (124%), and cortisol (122%). Patients with ectopic disease showed the most prominent increases, but there was considerable variation for other steroids according to subtype. Patients with adrenal disease had the lowest concentrations of androgens, whereas those with ectopic and pituitary disease showed the lowest concentrations of aldosterone. Plasma 18-oxocortisol was particularly low in ectopic disease. With the use of 10 selected steroids, subjects with and without different Cushing syndrome subtypes could be discriminated nearly as closely as with the use of salivary and urinary free cortisol, dexamethasone-suppressed cortisol, and plasma adrenocorticotropin (9.5% vs 5.8% misclassification). Patients with different subtypes of Cushing syndrome show distinctive plasma steroid profiles that may offer a supplementary single-test alternative for screening purposes. © 2017 American Association for Clinical Chemistry.

  9. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

    International Nuclear Information System (INIS)

    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I.

    2016-01-01

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  10. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I. [Children' s National Health System, Department of Radiology, Washington, DC (United States)

    2016-05-15

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  11. Moebius syndrome: clinical features, diagnosis, management and early intervention.

    Science.gov (United States)

    Picciolini, Odoardo; Porro, Matteo; Cattaneo, Elisa; Castelletti, Silvia; Masera, Giuseppe; Mosca, Fabio; Bedeschi, Maria Francesca

    2016-06-03

    Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS. The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS. Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits. Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.

  12. Gluteal compartment syndrome following drug-induced immobilization: a case report.

    Science.gov (United States)

    Panagiotopoulos, Andreas Christos; Vrachnis, Ioannis; Kraniotis, Pantelis; Tyllianakis, Minos

    2015-02-08

    Gluteal compartment syndrome is a very rare condition characterized by non-specific symptoms that often lead to misdiagnosis. We report a case of gluteal compartment syndrome in a 38 year-old Caucasian male (intravenous drug user) following prolonged immobilization due to loss of consciousness. The delay in the appropriate diagnosis and treatment led to a temporary acute kidney injury and to irreversible sciatic nerve palsy. Delay in the definitive diagnosis and treatment of gluteal compartment syndrome, may lead to higher morbidity of the affected extremity and in rare cases even patient mortality. Special emphasis is given to the aetiology, symptomatology, differential diagnosis as well as the treatment of this condition.

  13. Diagnosis of PFAPA syndrome applied to a cohort of 17 adults with unexplained recurrent fevers.

    Science.gov (United States)

    Cantarini, Luca; Vitale, Antonio; Bartolomei, Beatrice; Galeazzi, Mauro; Rigante, Donato

    2012-01-01

    The pathophysiology of PFAPA syndrome, mainly characterised by regularly recurring periodic fevers associated with aphthous stomatitis, pharyngitis and/or lymphadenitis, and mostly occurring in the paediatric setting, resembles an acquired autoinflammatory disease. The description of PFAPA syndrome in adult patients is largely increasing. To recognise PFAPA syndrome in a group of adult patients evaluated for recurrent fevers in our Rheumatology Unit. To apply current diagnostic criteria for PFAPA syndrome in a group of 359 adults with unexplained recurrent fevers monitored in our Unit between January 2007 and June 2011. We have found 17 out of 359 patients fulfilling the diagnosis of PFAPA syndrome: these patients (10 males, 7 females) were Caucasian with a mean age of 33.3±9.5 years, had recurrent febrile episodes begun at a mean age of 25.9±8.3 years and a mean number of episodes of 8.3±5.2 per year with a mean duration of 5.5±1.8 days. In particular, 7/17 patients had the 3 cardinal signs, the other 10 had a combination of 2 signs. Corticosteroids were given in 14/17 patients; tonsillectomy was performed in 9/17 patients: corticosteroid responsiveness and tonsillectomy efficacy were observed respectively in 11 and 2 patients. Our case highlights the importance of considering PFAPA syndrome in adults presenting with unexplained recurrent fevers and symptoms commonly encountered in general medical practice.

  14. Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome.

    Science.gov (United States)

    Vaudano, Anna Elisabetta; Ruggieri, Andrea; Vignoli, Aglaia; Canevini, Maria Paola; Meletti, Stefano

    2015-04-01

    Ring chromosome 20 [r(20)] syndrome is an underdiagnosed chromosomal anomaly characterized by severe epilepsy, behavioral problems, and mild-to-moderate cognitive deficits. Since the cognitive and behavioral decline follows seizure onset, this syndrome has been proposed as an epileptic encephalopathy (EE). The recent overwhelming development of advanced neuroimaging techniques has opened a new era in the investigation of the brain networks subserving the EEs. In particular, functional neuroimaging tools are well suited to show alterations related to epileptiform discharges at the network level and to build hypotheses about the mechanisms underlying the cognitive disruption observed in these conditions. This paper reviews the brain circuits and their disruption as revealed by functional neuroimaging studies in patients with [r(20)] syndrome. It discusses the clinical consequences of the neuroimaging findings on the management of patients with [r(20)] syndrome, including their impact to an earlier diagnosis of this disorder. Based on the available lines of evidences, [r(20)] syndrome is characterized by interictal and ictal dysfunctions within basal ganglia-prefrontal lobe networks and by long-lasting effects of the peculiar theta-delta rhythm, which represents an EEG marker of the syndrome on integrated brain networks that subserve cognitive functions. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Herlyn–Werner–Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

    International Nuclear Information System (INIS)

    Ahmad, Zohra; Goyal, Ankur; Das, Chandan J; Deka, Dipika; Sharma, Raju

    2013-01-01

    Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI) suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis of HWWS should be suspected and MRI is the investigation of choice for such anomalies

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

    Science.gov (United States)

    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.

  17. Diagnosis and treatment of polycystic ovary syndrome (PCOS): an interview with Richard Legro.

    Science.gov (United States)

    Legro, Richard

    2015-03-27

    In this podcast, we talk to Professor Richard Legro about the recommendations for the diagnosis and treatment of polycystic ovary syndrome (PCOS) based on clinical practice guidelines and discuss the challenges of diagnosis PCOS at specific age groups. The controversies associated with treatment of PCOS, including therapies for infertility as this is a problem commonly observed in PCOS subjects, are highlighted together with future directions on the topic. The podcast for this interview is available at. http://www.biomedcentral.com/content/supplementary/s12916-015-0299-2-s1.mp3.

  18. Delayed Diagnosis of Gastric Outlet Obstruction from Bouveret Syndrome in a Young Woman

    Directory of Open Access Journals (Sweden)

    Smith, Zachary

    2014-11-01

    Full Text Available Bouveret syndrome is a rare presentation of gastric outlet obstruction caused by a gallstone in the proximal duodenum via a bilioenteric fistula. This is an infrequent although clinically significant cause of abdominal pain, almost exclusively in the elderly. The clinical presentation is similar to that of a small bowel obstruction with abdominal pain, nausea and vomiting. Surgery or endoscopy is often required for definitive diagnosis and therapy. We describe the case of a young woman with this condition who had a delayed diagnosis in part because of her age and the rarity of the condition. [West J Emerg Med. 2015;16(1:151-153.

  19. Delayed diagnosis of gastric outlet obstruction from bouveret syndrome in a young woman.

    Science.gov (United States)

    Smith, Zachary; Totten, Jodie; Hughes, Adrienne; Strote, Jared

    2015-01-01

    Bouveret syndrome is a rare presentation of gastric outlet obstruction caused by a gallstone in the proximal duodenum via a bilioenteric fistula. This is an infrequent although clinically significant cause of abdominal pain, almost exclusively in the elderly. The clinical presentation is similar to that of a small bowel obstruction with abdominal pain, nausea and vomiting. Surgery or endoscopy is often required for definitive diagnosis and therapy. We describe the case of a young woman with this condition who had a delayed diagnosis in part because of her age and the rarity of the condition.

  20. The importance of proprioception in the diagnosis of cases thought to be Munchausen syndrome

    Directory of Open Access Journals (Sweden)

    Mustafa Nazim Karalezli

    2016-12-01

    Full Text Available Munchausen Syndrome is known as a condition where individuals who seek attention for themselves present at healthcare institutions with exaggerated complaints. Diagnosis can be difficult in some cases. In this paper are presented two cases of Munchausen Syndrome diagnosis by removing finger proprioception with local anesthetic based on incompatibility between trauma history and clinical findings. Evaluation of the resting position of the hand is primarily associated with proprioception. Sight and touch are important for proprioception. In patients thought to be potentially faking symptoms in areas where local anesthesia can be applied easily, such as the fingers, removing proprioception in the physical examination is important in diagnosing these individuals. [Hand Microsurg 2016; 5(3.000: 160-163

  1. Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

    Science.gov (United States)

    Zhen, Li; Fan, Shu-Shu; Huang, Lv-Yin; Pan, Min; Han, Jin; Yang, Xin; Li, Dong-Zhi

    2018-03-31

    To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb. Prenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA. Copyright © 2018 Elsevier B.V. All rights reserved.

  2. "FISHed" out the diagnosis: A case of DiGeorge syndrome

    Directory of Open Access Journals (Sweden)

    S Bajaj

    2016-01-01

    Full Text Available Our patient presented with congenital heart disease (CHD: Tetralogy of Fallot, hypocalcemia, hypoparathyroidism, and facial dysmorphisms. Suspecting DiGeorge syndrome (DGS, a fluorescence in situ hybridization (FISH analysis for 22q11.2 deletion was made. The child had a hemizygous deletion in the 22q11.2 region, diagnostic of DGS. Unfortunately, the patient succumbed to the heart disease. DGS is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations. This case stresses the importance of a detailed physical examination and a high index of suspicion for diagnosing this genetic condition. Timely diagnosis can help manage and monitor these patients better and also offer prenatal diagnosis in the next pregnancy.

  3. Diagnosis and prevention of overtraining syndrome: an opinion on education strategies

    Directory of Open Access Journals (Sweden)

    Kreher JB

    2016-09-01

    Full Text Available Jeffrey B Kreher Department of Orthopaedics, Division of Pediatric Orthopaedics, Massachusetts General Hospital and Massachusetts General Hospital for Children, Boston, MA, USA Abstract: Overtraining syndrome is a condition of maladapted physiology in the setting of excessive exercise without adequate rest. The exact etiology and pathogenesis are unknown and being investigated. Symptoms are multisystem in nature and often representative of underlying hormonal, immunologic, neurologic, and psychologic disturbances. Unfortunately, systematic review of the literature does not clearly direct diagnosis, management, or prevention. However, given the severity of symptoms and impairment to quality of life, prevention of overtraining syndrome should be considered by all who interact with endurance athletes. This article will provide suggestions for management of at-risk athletes despite absence of validated diagnostic tests and preventative measures. Keywords: overreaching, unexplained underperformance, burnout, muscle failure syndrome

  4. Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

    Science.gov (United States)

    Castiñeyra, G; Panal, M; Lopez Presas, H; Goldschmidt, E; Sánchez, J M

    1992-01-01

    A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome. Images PMID:1619643

  5. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Godfrey, M.; Vandemark, N.; Wang, M.; Han, J.; Rao, V.H. (Univ. of Nebraska Medical Center, Omaha (United States)); Velinov, M.; Tsipouras, P. (Univ. of Connecticut Health Sciences Center, Farmington (United States)); Wargowski, D.; Becker, J.; Robertson, W.; Droste, S. (Univ. of Wisconsin, Madison (United States))

    1993-08-01

    The Marfan syndrome, an autosomal dominant connective tissue disorder, is manifested by abnormalities in the cardiovascular, skeletal, and ocular systems. Recently, fibrillin, an elastic-associated microfibrillar glycoprotein, has been linked to the Marfan syndrome, and fibrillin mutations in affected individuals have been documented. In this study, genetic linkage analysis with fibrillin-specific markers was used to establish the prenatal diagnosis in an 11-wk-gestation fetus in a four-generation Marfan kindred. At birth, skeletal changes suggestive of the Marfan syndrome were observed. Reverse transcription-PCR amplification of the fibrillin gene mRNA detected a deletion of 123 bp in one allele in affected relatives. This deletion corresponds to an exon encoding an epidermal growth factor-like motif. Examination of genomic DNA showed a G[yields]C transversion at the +1 consensus donor splice site. 45 refs., 7 figs.

  6. Problems in diagnosis of incomplete (atypical) Kawasaki Syndrome - a case report

    International Nuclear Information System (INIS)

    Zamfirov, D.; Mikov, T.; Hegstad, A.

    2010-01-01

    Kawasaki Disease (KD), also known as Kawasaki syndrome, lymph node syndrome and Mucocutaneous lymph node syndrome, is an autoimmune disease that manifests as a systemic necrotizing medium-sized vessel vasculitis and is largely seen in children under 5 years of age. It affects many organ systems, mainly those including the blood vessels, skin, mucous membranes and however.its most serious effect is on the heart where it can cause severe coronary artery aneurysms in untreated children. Some patients who don't fulfill the criteria have been diagnosed as having Incomplete Kawasaki Disease (IKD). The early diagnosis of IKD is a real challenge and can help for adequate treatment and rapid recovery.

  7. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome.

    Science.gov (United States)

    Hızarcıoğlu-Gülşen, Hayriye; Kılıç, Esra; Dominguez-Garrido, Elena; Aydemir, Yusuf; Utine, Gülen Eda; Saltık-Temizel, İnci Nur

    2017-01-01

    Hızarcıoğlu-Gülşen H, Kılıç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltık-Temizel İN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr 2017; 59: 80-83. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis. The mutation of the PTEN gene that is responsible for controlling cellular proliferation, migration and apoptosis clarifies the reason of tissue overgrowth in BRRS. Gastrointestinal tract involvement is seen 35-45% of the patients. Histologic features of polyps in BRRS resemble juvenile polyps. In this report, we describe a boy presenting with hematochezia and aggressive polyposis and finally was diagnosed as BRRS due to extra intestinal findings.

  8. Prenatal Echography Diagnosis of Beckwith-Wiedemann Syndrome. A Case Report

    International Nuclear Information System (INIS)

    Gutierrez Guach, Gisela; Exposito Carralero, Andres; Cruz Marinno, Tania; Ballester Quesada, Sora

    2007-01-01

    A case of Beckwith-Wiedemann syndrome, diagnosed through prenatal ultrasonography in the 24th week of pregnancy is here presented. The macroglossia together with the overgrowth of both the kidneys and the fetus, that did not correspond with the actual gestational period were determining factors in the diagnosis. The validity of data which were collected before the interruption were confirmed once it was performed

  9. [Early diagnosis and treatment of compartment syndrome caused by landslides:a report of 20 cases].

    Science.gov (United States)

    Xie, Hong-Bo; Peng, Zi-Lai; Liu, Xu-Bang; Chen, Lian

    2012-01-01

    To summarize early diagnosis and treatment methods of 20 patients with compartment syndrome caused by landslides during coal mine accidents in order to improve the level of diagnosis and treatment of compartment syndrome and reduce disability. From September 2006 to April 2010,20 patients with compartment syndrome were treated with the methods of early decompression, systemic support. All the patients were male with an average age of 42 years (ranged, 23 to 54). All the patients with high tension limb swelling, pain, referred pain passive positive; 5 extremities feeling diminish or disappear and the distal blood vessel beat were normal or weakened or disappeared; myoglobinuria, hyperkalemia, serum urea nitrogen and creatinine increased in 5 cases and oliguria in occurred 1 case. The function of affected limbs was observed according to disability ratings. Three cases complicated with infection of affected limb and 6 cases occurred with renal function insufficiency. Total recovery was in 16 cases, basically recovery in 3, amputation in 1 case. All patients were followed up for 6-15 months with an average of 12 months. The ability to work according to national standard identification--Employee work-related injuries and occupational disability rating classification (GB/T16180-2006) to assess, grade 5 was in 1 case, grade 8 in 2 cases, grade 10 in 1 case, no grade in 16 cases. Arteriopalmus of dorsalis pedis weaken and vanished can not be regard as an evidence in early diagnosis of compartment syndrome. Early diagnosis and decompression, systemic support and treatment is the key in reducing disability.

  10. Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis

    DEFF Research Database (Denmark)

    Hinrichsen, Inga; Brieger, Angela; Trojan, Jörg

    2013-01-01

    Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality of these variants can be tested in the laboratory, but the results...... cannot be used for clinical diagnosis. We therefore aimed to establish a laboratory test that can be applied clinically....

  11. 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)

  12. 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

  13. 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

  14. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

    Directory of Open Access Journals (Sweden)

    Hidekane Yoshimura

    Full Text Available Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate and several long-term advantages for patients and their families. However, the conventional genetic techniques, such as direct sequence analysis, are both time-consuming and expensive. Targeted exon sequencing of selected genes using the massively parallel DNA sequencing technology will potentially enable us to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. Using this technique combined with direct sequence analysis, we screened 17 unrelated Usher syndrome type 1 patients and detected probable pathogenic variants in the 16 of them (94.1% who carried at least one mutation. Seven patients had the MYO7A mutation (41.2%, which is the most common type in Japanese. Most of the mutations were detected by only the massively parallel DNA sequencing. We report here four patients, who had probable pathogenic mutations in two different Usher syndrome type 1 genes, and one case of MYO7A/PCDH15 digenic inheritance. This is the first report of Usher syndrome mutation analysis using massively parallel DNA sequencing and the frequency of Usher syndrome type 1 genes in Japanese. Mutation screening using this technique has the power to quickly identify mutations of many causative genes while maintaining cost-benefit performance. In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance.

  15. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

    Directory of Open Access Journals (Sweden)

    Roberto Giugliani

    2014-06-01

    Full Text Available This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S, an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S (Elaprase®, Shire enzyme replacement therapy (ERT, designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.

  16. Systemic nickel allergy syndrome: nosologic framework and usefulness of diet regimen for diagnosis.

    Science.gov (United States)

    Braga, M; Quecchia, C; Perotta, C; Timpini, A; Maccarinelli, K; Di Tommaso, L; Di Gioacchino, M

    2013-01-01

    Systemic (gastrointestinal and skin) reactions to ingestion of nickel rich foods in patients with nickel allergic contact dermatitis characterize Systemic Nickel Allergy Syndrome (SNAS). The objective of the study was to describe the nosologic framework of the syndrome and to compare sensibility and specificity for SNAS diagnosis between two different low nickel diets - BraMa-Ni and the usually prescribed list of forbidden foods - along with patient adherence to diet. One hundred forty-five patients with suspected SNAS (by history and benefit from nickel dietary restrictions) were selected and orally challenged with nickel for a definite diagnosis. Specificity and sensibility of the diets were calculated in relation to the results of nickel challenges. The nosologic framework of SNAS was deduced from the clinical pictures of 98 patients with positive nickel challenge and characterized essentially by skin and gastrointestinal symptoms, whereas all other symptoms (dizziness, headache etc.) were never elicited by the oral nickel challenge. The specificity and sensibility of BraMa-Ni in detecting SNAS were significantly higher than the forbidden food list diet, with an excellent patient adherence. Therefore, BraMa-Ni diet can be prescribed for the treatment of the syndrome other than for the diagnosis, the gold standard of which remains the oral nickel challenge.

  17. Population Based Trends in the Incidence of Hospital Admission for the Diagnosis of Hepatorenal Syndrome: 1998–2011

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    Manish Suneja

    2016-01-01

    Full Text Available Background and Objectives. Hepatorenal syndrome carries a high risk of mortality. Understanding the incidence and mortality trends in hepatorenal syndrome will help inform future studies regarding the safety and efficacy of potential therapeutic interventions. Design and Methods. We conducted a retrospective cohort study using the Nationwide Inpatient Sample. We identified hospitalizations from January 1998–June 2011 with a primary diagnosis of hepatorenal syndrome. To characterize the incidence trends in monthly hepatorenal syndrome hospitalizations, we fit a piecewise linear model with a change point at January 2008. We examined hospital and patient characteristics before and after the change point. Results. Hospital admissions with a diagnosis of hepatorenal syndrome increased markedly between September of 2007 and March of 2008. Comparing patients who were admitted with a diagnosis of hepatorenal syndrome prior to 2008 with those after 2008, we found that length of stay increased while the mortality of patients admitted for hepatorenal syndrome decreased. Conclusion. The revision of the diagnostic criteria for hepatorenal syndrome may have contributed to the increase in the incidence of admissions for hepatorenal syndrome. However, the changes in the principles of hepatorenal syndrome management may have also contributed to the increase in incidence and lower mortality.

  18. 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.

  19. 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

  20. Schizophrenia : Current concepts in aetiology

    Directory of Open Access Journals (Sweden)

    P S Bhat

    2014-01-01

    Full Text Available Schizophrenia is perhaps the most devastating neuropsychiatric illness. Worldwide, its prevalence rate is about 1%. Schizophrenia is considered a neurodevelopmental disorder involving the interplay of susceptibility genes and environmental factors. There is a wide range of pathologic findings, but there is no specific or diagnostic laboratory abnormality. Till date, the aetiology, neuropathology, and pathophysiology of schizophrenia remain elusive. Over the last forty years, the dopaminergic model has been the leading neurochemical hypothesis of schizophrenia. Yet it remains unlikely that dopaminergic dysfunction, on its own. Glutamatergic models provide an alternate approach for conceptualizing the brain abnormalities associated with schizophrenia. New pharmacological and behavioral approaches aimed at potentiating glutamatergic neurotransmission, offer new hopeforfuture clinical development

  1. Reclassification of clinical sleep disorders using traditional models of syndromic, neuroanatomic, pathophysiological and etiological diagnosis.

    Science.gov (United States)

    Spitzer, A Robert

    2014-09-01

    more than one location, and the best predictor might be symptoms. These are issues that need to undergo careful study on a syndromic, anatomic and physiological bases. This novel model opens up new avenues for understanding central nervous system sleep disorders, providing testable hypotheses regarding diagnosis and treatment. Copyright © 2014 The Author. Published by Elsevier Ltd.. All rights reserved.

  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. Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes.

    Science.gov (United States)

    Rich, Thereasa A; Liu, Mei; Etzel, Carol J; Bannon, Sarah A; Mork, Maureen E; Ready, Kaylene; Saraiya, Devki S; Grubbs, Elizabeth G; Perrier, Nancy D; Lu, Karen H; Arun, Banu K; Woodard, Terri L; Schover, Leslie R; Litton, Jennifer K

    2014-06-01

    Preimplantation genetic diagnosis (PGD) allows couples to avoid having a child with an inherited condition, potentially reducing cancer burden in families with a hereditary cancer predisposition. This study investigated and compared awareness and acceptance of PGD among patients with different hereditary cancer syndromes. Questionnaires were mailed to 984 adults with hereditary breast and ovarian cancer, Lynch syndrome, familial adenomatous polyposis, or multiple endocrine neoplasia type 1 or 2. Associations between clinical, demographic, and psychosocial factors and awareness and acceptance of PGD were examined. Of 370 respondents (38 % return rate), 28 % felt their syndrome impacted family planning, 24 % were aware of PGD, 72 % felt that PGD should be offered, 43 % would consider using PGD, and 29 % were uncertain. Family experience and syndrome-specific characteristics, such as disease severity, quality of life and availability of medical interventions as well as gender, family planning stage, and religiosity impact perceptions of the acceptability of PGD, though a high level of uncertainty exists. Hereditary cancer patients lack awareness of PGD despite feeling that PGD should be offered, highlighting the need for education on this topic. While we found attitudes about the acceptability of PGD to be generally similar to those reported in the literature and of genetics and ethics experts, we observed similarities and differences between syndromes that provide insight into why some hereditary cancer patients may find PGD more acceptable than others.

  4. Does a diagnosis of metabolic syndrome have value in clinical practice?

    Science.gov (United States)

    Grundy, Scott M

    2006-06-01

    "The metabolic syndrome" is the name for a clustering of risk factors for cardiovascular disease and type 2 diabetes that are of metabolic origin. These risk factors consist of atherogenic dyslipidemia, elevated blood pressure, elevated plasma glucose, a prothrombotic state, and a proinflammatory state. There are 2 major, interacting causes of the metabolic syndrome-obesity and endogenous metabolic susceptibility. The latter typically is manifested by insulin resistance. The metabolic syndrome is accompanied by a 2-fold increase in the risk of cardiovascular disease and a 5-fold increase in the risk of type 2 diabetes. A clinical diagnosis of the metabolic syndrome is useful because it affects therapeutic strategy in patients at higher risk. However, there are 2 views about the best therapeutic strategy for patients with the metabolic syndrome. One view holds that each of the metabolic risk factors should be singled out and treated separately. The other view holds that greater emphasis should be given to implementing therapies that will reduce all of the risk factors simultaneously. The latter approach emphasizes lifestyle therapies (weight reduction and increased exercise), which target all of the risk factors. This approach is also the foundation of other therapies for targeting multiple risk factors together by striking at the underlying causes, as in the development of drugs to promote weight reduction and to reduce insulin resistance. Treating the underlying causes does not rule out the management of individual risk factors, but it will add strength to the control of multiple risk factors.

  5. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.

    Science.gov (United States)

    Prakash, Siddharth; Guo, Dongchuan; Maslen, Cheryl L; Silberbach, Michael; Milewicz, Dianna; Bondy, Carolyn A

    2014-01-01

    Turner syndrome is a developmental disorder caused by partial or complete monosomy for the X chromosome in 1 in 2,500 females. We hypothesized that single-nucleotide polymorphism (SNP) array genotyping could provide superior resolution in comparison to metaphase karyotype analysis to facilitate genotype-phenotype correlations. We genotyped 187 Turner syndrome patients with 733,000 SNP marker arrays. All cases met diagnostic criteria for Turner syndrome based on karyotypes (60%) or characteristic physical features. The SNP array results confirmed the diagnosis of Turner syndrome in 100% of cases. We identified a single X chromosome (45,X) in 113 cases. In 58 additional cases (31%), other mosaic cell lines were present, including isochromosomes (16%), rings (5%), and Xp deletions (8%). The remaining cases were mosaic for monosomy X and normal male or female cell lines. Array-based models of X chromosome structure were compatible with karyotypes in 104 of 116 comparable cases (90%). We found that the SNP array data did not detect X-autosome translocations (three cases) but did identify two derivative Y chromosomes and 13 large copy-number variants that were not detected by karyotyping. Our study is the first systematic comparison between the two methods and supports the utility of SNP array genotyping to address clinical and research questions in Turner syndrome.

  6. Kounis syndrome: an update on epidemiology, pathogenesis, diagnosis and therapeutic management.

    Science.gov (United States)

    Kounis, Nicholas G

    2016-10-01

    Kounis syndrome has been established as a hypersensitivity coronary disorder induced by various conditions, drugs, environmental exposures, foods and coronary stents. Allergic, hypersensitivity, anaphylactic and anaphylactoid reactions are associated with this syndrome. Vasospastic allergic angina, allergic myocardial infarction and stent thrombosis with occluding thrombus infiltrated by eosinophils and/or mast cells constitute are the three reported, so far, variants of this syndrome. Apart from coronary arteries, it affects the cerebral and mesenteric arteries. Its manifestations are broadening and its etiology is continuously increasing. Kounis syndrome is a ubiquitous disease which represents a magnificent natural paradigm and nature's own experiment in a final trigger pathway implicated in cases of coronary artery spasm and plaque rupture. Kounis syndrome seems to be not a rare disease but an infrequently diagnosed clinical entity which has revealed that the same mediators released from the same inflammatory cells are also present and in acute coronary events of non allergic etiology. These cells are not only present in the culprit region before plaque erosion or rupture but they release their contents just before an actual coronary event. Therefore, awareness of etiology, epidemiology, pathogenesis and clinical manifestations seems to be important for its prognosis, diagnosis, treatment, prevention.

  7. Computer-Assisted Diagnosis of the Sleep Apnea-Hypopnea Syndrome: A Review

    Science.gov (United States)

    Alvarez-Estevez, Diego; Moret-Bonillo, Vicente

    2015-01-01

    Automatic diagnosis of the Sleep Apnea-Hypopnea Syndrome (SAHS) has become an important area of research due to the growing interest in the field of sleep medicine and the costs associated with its manual diagnosis. The increment and heterogeneity of the different techniques, however, make it somewhat difficult to adequately follow the recent developments. A literature review within the area of computer-assisted diagnosis of SAHS has been performed comprising the last 15 years of research in the field. Screening approaches, methods for the detection and classification of respiratory events, comprehensive diagnostic systems, and an outline of current commercial approaches are reviewed. An overview of the different methods is presented together with validation analysis and critical discussion of the current state of the art. PMID:26266052

  8. A Smart Tool for the Diagnosis of Parkinsonian Syndromes using Wireless Watches

    Directory of Open Access Journals (Sweden)

    Andreas Goll

    2014-11-01

    Full Text Available Early detection and diagnosis of Parkinson disease will provide a good chance for patients to take early actions and prevent its further development. In this paper, a smart tool for the diagnosis of Parkinsonian syndromes is designed and developed using low–cost Texas Instruments eZ430-Chronos wireless watches. With this smart tool, Parkinson Bradykinesia is detected based on the cycle of a human gait, with the watch worn on the foot, and Parkinson Tremor shaking is detected and differed by frequency 0 to 8 Hz on the arm in real-time with a developed statistical diagnosis chart. It can be used in small clinics as well as home environment due to its low-cost and easy-use property.

  9. The pneumatic compression test and modified pneumatic compression test in the diagnosis of carpal tunnel syndrome.

    Science.gov (United States)

    Tekeoglu, I; Dogan, A; Demir, G; Dolar, E

    2007-12-01

    There are no precise criteria for the diagnosis of carpal tunnel syndrome (CTS): the history is useful but the value of the various provocative tests is questionable. The purpose of this study was to examine the diagnostic value of a new provocative test, the 'modified pneumatic compression test' in CTS. The study group consisted of 37 patients with 50 symptomatic CTS hands. A control group of 50 healthy volunteers was recruited. The diagnosis was based on a combination of the history, the clinical findings on examination and electrophysiological criteria. Sensitivity for the pneumatic compression and the modified pneumatic compression tests were 68% and 84%, respectively. Specificities for these tests were 97% and 95%, respectively. The modified pneumatic compression test demonstrated high sensitivity and specificity for CTS. This test facilitated the diagnosis and was easy to use. It may reduce referrals for neurophysiology testing, and so reduce costs.

  10. 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..

  11. Value of OCT Angiography in the Diagnosis of Choroidal Neovascularization Complicating Multiple Evanescence White Dot Syndrome.

    Science.gov (United States)

    Nozaki, Miho; Hamada, Satoshi; Kimura, Masayo; Yoshida, Munenori; Ogura, Yuichiro

    2016-06-01

    This report describes a 19-year-old patient with the rare association of multiple evanescent white dot syndrome (MEWDS) and choroidal neovascularization (CNV). Despite the initial diagnosis of MEWDS, her vision significantly decreased. Fluorescein angiography showed dye leakage and pooling at the macula, whereas optical coherence tomography (OCT) showed cystoid macular edema and serous neuroepithelial elevation. The dye leakage and pooling made it impossible to diagnose CNV. However, OCT angiography (OCTA) revealed a vascular structure in the outer retina, thereby leading to the CNV diagnosis. Visual acuity improved after an anti-vascular endothelial growth factor injection. OCTA proved to be useful in the diagnosis of CNV. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:580-584.]. Copyright 2016, SLACK Incorporated.

  12. [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.

  13. DOWN-SYNDROME - EFFECTS OF DEMOGRAPHIC-FACTORS AND PRENATAL-DIAGNOSIS ON THE FUTURE LIVEBIRTH PREVALENCE

    NARCIS (Netherlands)

    CORNEL, MC; BREED, ASPM; BEEKHUIS, [No Value; MEERMAN, GJT; TENKATE, LP

    In northwest European countries maternal age is increasing. This will lead to an increase of the prevalence of Down syndrome conceptuses. Meanwhile, the increased use of prenatal cytogenetic diagnosis (PCD) will lead to a decrease in the prevalence of Down syndrome among livebirths. We were

  14. Updates and Future Horizons on the Understanding, Diagnosis, and Treatment of Sturge-Weber Syndrome Brain Involvement

    Science.gov (United States)

    Lo, Warren; Marchuk, Douglas A.; Ball, Karen L.; Juhasz, Csaba; Jordan, Lori C.; Ewen, Joshua B.; Comi, Anne

    2012-01-01

    Aim: To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS). Method: Members of the Brain Vascular Malformation Consortium Sturge-Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research. Results: The increasing number…

  15. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

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

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    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.

  17. "Attenuated psychotic symptoms syndrome" as a risk syndrome of psychosis, diagnosis in DSM-V: The debate.

    Science.gov (United States)

    Shrivastava, Amresh; McGorry, P D; Tsuang, Ming; Woods, Scott W; Cornblatt, Barbara A; Corcoran, Cheryl; Carpenter, William

    2011-01-01

    Schizophrenia is a common disorder, affecting approximately 1 out of every 100 people, with a typical onset during adolescence and early adulthood. The personal and societal costs of schizophrenia are extremely high. Prevention of schizophrenia, would offer substantial benefits to patients, their family members, and the community at large. The prodromal phase of schizophrenia has been recognized since the 19th century. At-risk individuals for psychosis and schizophrenia are the subjects who can provide information for intervention prior to development of frank psychosis. This approach is currently being investigated. The question remains, however, whether it can be a diagnostic category by itself. The proposal for including the risk syndrome is one of the recommendations by the working group on schizophrenia and psychotic disorders for the forthcoming DSM-V. There are differing views in academia regarding this proposal. Prior to becoming fully psychotic, a consistent literature demonstrates that patients generally had suffered from accelerating attenuated symptoms and distress. It is important that the prodromal phase be accurately recognized in order to accomplish the goal of prevention. We can then purposefully engage in early intervention aiming toward prevention. A recent strong resurgent interest in this area stems largely from two developments: First, the identification of the neurobiological deficit processes associated with the severity and chronicity of schizophrenia, and second, the development of reliable criteria for diagnosis. Although the general at-risk construct appears to offer great potential to advance both the treatment and research dealing with psychotic illnesses, it seems premature to many researchers to include the syndrome as an established entity in the text of the new DSM-V. It would be far more appropriate to include this proposed syndrome in the appendix and evaluate the many contemporary issues in future studies. The main issues

  18. Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

    Science.gov (United States)

    Raffan, Eleanor; Hurst, Liam A.; Turki, Saeed Al; Carpenter, Gillian; Scott, Carol; Daly, Allan; Coffey, Alison; Bhaskar, Sanjeev; Howard, Eleanor; Khan, Naz; Kingston, Helen; Palotie, Aarno; Savage, David B.; O'Driscoll, Mark; Smith, Claire; O'Rahilly, Stephen; Barroso, Inês; Semple, Robert K.

    2011-01-01

    Genetic diagnosis of inherited metabolic disease is conventionally achieved through syndrome recognition and targeted gene sequencing, but many patients receive no specific diagnosis. Next-generation sequencing allied to capture of expressed sequences from genomic DNA now offers a powerful new diagnostic approach. Barriers to routine diagnostic use include cost, and the complexity of interpreting results arising from simultaneous identification of large numbers of variants. We applied exome-wide sequencing to an individual, 16-year-old daughter of consanguineous parents with a novel syndrome of short stature, severe insulin resistance, ptosis, and microcephaly. Pulldown of expressed sequences from genomic DNA followed by massively parallel sequencing was undertaken. Single nucleotide variants were called using SAMtools prior to filtering based on sequence quality and existence in control genomes and exomes. Of 485 genetic variants predicted to alter protein sequence and absent from control data, 24 were homozygous in the patient. One mutation – the p.Arg732X mutation in the WRN gene – has previously been reported in Werner's syndrome (WS). On re-evaluation of the patient several early features of WS were detected including loss of fat from the extremities and frontal hair thinning. Lymphoblastoid cells from the proband exhibited a defective decatenation checkpoint, consistent with loss of WRN activity. We have thus diagnosed WS some 15 years earlier than average, permitting aggressive prophylactic therapy and screening for WS complications, illustrating the potential of exome-wide sequencing to achieve early diagnosis and change management of rare autosomal recessive disease, even in individual patients of consanguineous parentage with apparently novel syndromes. PMID:22654791

  19. Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.

    Science.gov (United States)

    Halder, Ashutosh; Jain, Manish; Chaudhary, Isha; Gupta, Neerja; Kabra, Madhulika

    2013-01-01

    Microdeletion syndromes are characterized by small (microdeletion syndromes. This study was conducted to assess the role of FISH in the diagnosis of suspected microdeletion syndrome. FISH was carried out on 301 clinically suspected microdeletion syndrome cases for the confirmation of clinical diagnosis using non-commercial probes. Of these, 177 cases were referred for 22q11.2 microdeletion, 42 cases were referred for William syndrome, 38 cases were referred for Prader Willi/Angelman and 44 cases were referred for other suspected microdeletion syndromes. FISH was confirmatory in 23 cases only (7.6%). There were 17 cases of 22q11.2 microdeletion, four cases of Prader Willi syndrome and two cases of William syndrome. We conclude that FISH should not be the method of choice for clinically suspected microdeletion syndromes. We propose to follow strict clinical criteria for FISH testing or preferably to follow better methods (genotype first approach). Whole genome screening may be used as first line of test and FISH may be used for confirmation of screening result, screening of family members and prenatal diagnosis.

  20. Behavioural phenotypes and special educational needs: is aetiology important in the classroom?

    Science.gov (United States)

    Reilly, C

    2012-10-01

    A number of genetic conditions with associated intellectual disability and/or special educational needs have increasingly well-defined behavioural phenotypes. Thus, the concept of 'behavioural phenotype' and aetiology of intellectual disability may be important with regard to school-based interventions. The evidence for distinctive cognitive and behavioural aspects of five of the most common genetic syndromes (Down syndrome, fragile X syndrome, Williams syndrome, Prader-Willi syndrome and velo-cardio-facial syndrome) associated with special educational needs is reviewed with respect to key studies and findings. The possible utility of aetiology-related interventions in education is discussed with reference to arguments for and against such approaches with respect to published guidelines and published research. Behavioural phenotypes are probabilistic and many children with a specific genetic syndrome will share commonalities with other children with other genetic syndromes and within syndrome variability is not uncommon. There is evidence that teachers and parents have limited knowledge of aspects of the proposed cognitive and behaviour profiles associated with the reviewed syndromes. While there are published guidelines in the area of learning and behaviour for each of the five reviewed syndromes there is a limited amount of evidence of the efficacy of such approaches in school settings. It is likely that knowing the aetiology of a child's special educational needs will be helpful for staff who work in school settings in relation to cognitive and behavioural implications. However, how such knowledge might inform teaching practice or behavioural interventions has not been studied. A model is proposed that might help inform educators about the possible role of aetiology in the classroom. © 2012 The Author. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd.

  1. Multiple sclerosis presented as clinically isolated syndrome: the need for early diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Sigliti-Henrietta Pelidou

    2008-06-01

    Full Text Available Sigliti-Henrietta Pelidou, Sotirios Giannopoulos, Sotiria Tzavidi, Georgios Lagos, Athanassios P KyritsisDepartment of Neurology, University of Ioannina School of Medicine, GreeceObjective: To aid in the timely diagnosis of patients who present with clinically isolated syndrome (CIS.Patients and methods: We studied 25 patients (18 women, 7 men, originally presented in our clinic with a CIS suggestive of multiple sclerosis (MS. All patients underwent the full investigation procedure including routine tests, serology, cerebrospinal fluid (CSF examinations, evoked potentials (EPs, and magnetic resonance imaging (MRI of brain and cervical spinal cord. Patients were imaged at baseline, and every three months thereafter up to a year.Results: The CIS was consisted of optic neuritis in 12 cases, incomplete transverse myelitis (ITM in 7 cases, Lhermitte sign in 2 cases, internuclear ophthalmoplegia (INO in 2 cases, mild brainstem syndrome in 1 case, and tonic-clonic seizures in 1 case. Using the baseline and three-month scans 18/25 (72% patients developed definite MS in one year of follow up while 7 (28% had no further findings during this observation period. Immunomodulatory treatments were applied to all definite MS patients.Conclusion: In light of new treatments available, MRIs at 3 month intervals are helpful to obtain the definite diagnosis of MS as early as possible.Keywords: multiple sclerosis, clinically isolated syndrome, optic neuritis, transverse myelitis

  2. 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.

  3. New developments in the diagnosis and treatment of chronic prostatitis/chronic pelvic pain syndrome.

    Science.gov (United States)

    Pontari, Michel; Giusto, Laura

    2013-11-01

    To describe new developments in the diagnosis and treatment of chronic prostatitis/chronic pelvic pain syndrome (CPPS). Symptoms in men with chronic prostatitis/CPPS appear to cluster into a group with primarily pelvic or localized disease, and a group with more systemic symptoms. Several other chronic pain conditions can be associated with chronic prostatitis/CPPS, including irritable bowel syndrome, fibromyalgia, and chronic fatigue syndrome. Markers of neurologic inflammation and autoimmune disease parallel changes in symptoms after treatment. Treatment options include new alpha-blockers, psychological intervention, and prostate-directed therapy. The areas of acupuncture and pelvic floor physical therapy/myofascial release have received increased recent attention and appear to be good options in these patients. Future therapy may include antibodies to mediators of neurogenic inflammation and even treatment of bacteria in the bowel. The diagnosis of chronic prostatitis/CPPS must include conditions traditionally outside the scope of urologic practice but important for the care of men with chronic pelvic pain. The treatment is best done using multiple simultaneous therapies aimed at the different aspects of the condition.

  4. Attitudes of Mothers towards Their Child with Down Syndrome before and after the Introduction of Prenatal Diagnosis

    Science.gov (United States)

    Lenhard, Wolfgang; Breitenbach, Erwin; Ebert, Harald; Schindelhauer-Deutscher, H. Joachim; Zang, Klaus D.; Henn, Wolfram

    2007-01-01

    In 1970, before the introduction of prenatal diagnosis of chromosome anomalies, an unpublished questionnaire study concerning the social and emotional situation of mothers of children with Down syndrome was conducted in southern Germany. To assess the psychosocial impact of the availability of prenatal diagnosis on parents of genetically…

  5. Grisel Syndrome Following Adenoidectomy: Surgical Management in a Case with Delayed Diagnosis.

    Science.gov (United States)

    Spennato, Pietro; Nicosia, Giancarlo; Rapanà, Armando; Cicala, Domenico; Donnianni, Tiziana; Scala, Silvana; Aliberti, Ferdinando; Cinalli, Giuseppe

    2015-11-01

    Grisel syndrome is a nontraumatic rotatory subluxation of the atlantoaxial joint, following nasopharyngeal inflammation or ear, nose, and throat (ENT) procedures. The syndrome should be suspected in cases of persistent neck pain and stiffness, especially after ENT surgical procedures. The primary treatment of early detected Grisel syndrome is conservative. If conservative treatment fails to achieve a stable reduction or it is followed by neurologic symptoms, arthrodesis of the first and second cervical vertebrae is indicated. We report the case of a 9-year-old boy who developed Grisel syndrome after adenoidectomy and was treated with C1-C3 internal fixation and fusion. A 9-year-old boy was referred to our hospital with a 3-month history of painful torticollis, which appeared 4 days after adenoidectomy. The patient underwent a neuroimaging study that documented the presence of atlantoaxial rotatory subluxation. The patient underwent C1-C3 internal fixation and fusion, using lateral masses and laminar and pars interarticularis screws. On the third postoperative day he was mobilized with a rigid collar. Postoperative computed tomography scans showed the resolution of rotational deformity and a solid fusion. Early treatment of Grisel syndrome is of utmost importance to avoid neurologic complications and surgical intervention. In a patient with torticollis following ENT procedures, Grisel syndrome should be always suspected. In case of failure of conservative treatment or in case of delayed diagnosis, rigid C1-C2 or C1-C2-C3 fixation is a straightforward and valid surgical technique, even in children, because it provides immediate spinal stability in all planes at the atlantoaxial complex, avoiding the need for prolonged rigid external bracing. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. [PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis].

    Science.gov (United States)

    Bai, Y; Liu, N; Kong, X D; Yan, J; Qin, Z B; Wang, B

    2016-12-07

    Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods: PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping. Results: A heterozygous PAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family, and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal. Molecular studies identified a novel deletion mutation c. 1385_1386delCT within the PAX3 gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals. Conclusions: PAX3 gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.

  7. A Belgian survey on the diagnosis of asthma-COPD overlap syndrome.

    Science.gov (United States)

    Cataldo, Didier; Corhay, Jean-Louis; Derom, Eric; Louis, Renaud; Marchand, Eric; Michils, Alain; Ninane, Vincent; Peché, Rudi; Pilette, Charles; Vincken, Walter; Janssens, Wim

    2017-01-01

    Patients with chronic airway disease may present features of both asthma and COPD, commonly referred to as asthma-COPD overlap syndrome (ACOS). Recommendations on their diagnosis are diffuse and inconsistent. This survey aimed to identify consensus on criteria for diagnosing ACOS. A Belgian expert panel developed a survey on ACOS diagnosis, which was completed by 87 pulmonologists. Answers chosen by ≥70% of survey respondents were considered as useful criteria for ACOS diagnosis. The two most frequently selected answers were considered as major criteria, others as minor criteria. The expert panel proposed a minimal requirement of two major criteria and one minor criterion for ACOS diagnosis. Respondents were also asked which criteria are important for considering inhaled corticosteroids prescription in a COPD patient. To diagnose ACOS in COPD patients, major criteria were "high degree of variability in airway obstruction over time (change in forced expiratory volume in 1 second ≥400 mL)" and "high degree of response to bronchodilators (>200 mL and ≥12% predicted above baseline)". Minor criteria were "personal/family history of atopy and/or IgE sensitivity to ≥1 airborne allergen", "elevated blood/sputum eosinophil levels and/or increased fractional exhaled nitric oxide", "diagnosis of asthma 40 years"; "emphysema on chest computed tomography scan". Specific criteria were identified that may guide physicians to a more uniform diagnostic approach for ACOS in COPD or asthma patients. These criteria are largely similar to those used to prescribe inhaled corticosteroids in COPD.

  8. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    Science.gov (United States)

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

  9. 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.

  10. Revisiting of etiology, clinical picture and diagnosis of the Kleine-Levin syndrome.

    Directory of Open Access Journals (Sweden)

    Ulyanova О.V.

    2017-03-01

    Full Text Available Objective: to draw the attention to the Kleine - Levin syndrome (SKL, a rare, poorly understood disease, not only in Russia but throughout the world. We analyzed the case of the 23-year old patient M, with the Kleine — Levin syndrome. SKL belongs to the group of recurrent hypersomnia and is characterized by long bouts of sleep lasting an average of 10-14 days, beginning with the imperative and difficulty awakening. During bouts of sleep observed unusual behavior of patients: hyperphagia; hypersexuality in males; irritability, restlessness, impaired mental activity; aggression; feeling of unreality of it all; confusion, hallucinatory episodes and depression in females. During wakefulness, marked dyspho-ria, emotional stupefaction, loss of memory. The syndrome develops in 4 times more often in men than in women, aged 12-25 years. Etiological factors: brain tumor, head trauma, metabolic disorders, acute infectious diseases with fever. Often the development of the syndrome is preceded by hyperemia and hypothalamic-pituitary dysfunction. The article discussed the etiology, diagnosis, and possible combinations of clinical manifestations in SKL.

  11. Guideline for the diagnosis, treatment and response criteria for Bing-Neel syndrome.

    Science.gov (United States)

    Minnema, Monique C; Kimby, Eva; D'Sa, Shirley; Fornecker, Luc-Matthieu; Poulain, Stéphanie; Snijders, Tom J; Kastritis, Efstathios; Kremer, Stéphane; Fitsiori, Aikaterini; Simon, Laurence; Davi, Frédéric; Lunn, Michael; Castillo, Jorge J; Patterson, Christopher J; Le Garff-Tavernier, Magali; Costopoulos, Myrto; Leblond, Véronique; Kersten, Marie-José; Dimopoulos, Meletios A; Treon, Steven P

    2017-01-01

    Bing Neel syndrome is a rare disease manifestation of Waldenström's macroglobulinemia that results from infiltration of the central nervous system by malignant lymphoplasmacytic cells. In this guideline we describe the clinical symptoms, as well as the appropriate laboratory and radiological studies, that can aid in the diagnosis. The presentation of Bing Neel syndrome may be very diverse, and includes headaches, cognitive deficits, paresis, and psychiatric symptoms. The syndrome can present in patients with known Waldenström's macroglobulinemia, even in the absence of systemic progression, but also in previously undiagnosed patients. Diagnostic work-up should include cerebral spinal fluid analysis with multiparameter flow cytometry to establish B-cell clonality, protein electrophoresis and immunofixation for the detection and classification of a monoclonal protein as well as molecular diagnostic testing for immunoglobulin gene rearrangement and mutated MYD88. MRI of the brain and spinal cord is also essential. The second challenge is to expand our knowledge of prognosis and treatment outcome. Prospective clinical trials on Bing Neel syndrome patients that employ uniform treatment along with appropriate laboratory cerebral spinal fluid assessments and standardized MRI protocols will be invaluable, constituting a significant step forward in delineating treatment outcome for this intriguing disease manifestation. Copyright© Ferrata Storti Foundation.

  12. Predictors of a functional somatic syndrome diagnosis in patients with persistent functional somatic symptoms.

    Science.gov (United States)

    Kingma, Eva M; de Jonge, Peter; Ormel, Johan; Rosmalen, Judith G M

    2013-06-01

    Functional somatic syndromes (FSS) are characterized by the existence of multiple persistent functional somatic symptoms. Not many patients fulfilling the criteria for an FSS, receive a formal diagnosis, and it is unknown which factors explain this discrepancy. Patients that tend to worry and patients that gather more health information may have an increased chance of an FSS diagnosis. We hypothesized that high intelligence and high neuroticism increase the probability of an FSS diagnosis in patients with persistent functional somatic symptoms. This study aims to investigate patient factors that might be important in the process of syndrome labeling. Our study was performed in a large, representative population cohort (n = 976) in Groningen, The Netherlands, and included two assessment waves. Intelligence was measured using the General Aptitude Test Battery version B 1002-B. Neuroticism was measured using the 12-item neuroticism scale of the Eysenck Personality Questionnaire-Revised. Functional somatic symptoms were measured with the somatization section of the Composite International Diagnostic Interview. Current FSS diagnosis was assessed with a questionnaire. We performed multivariable logistic regression analyses including sum scores of neuroticism, intelligence scores, sex, number of functional somatic symptoms, and age as potential predictors of having an FSS diagnosis. From the 976 participants that completed measurements at follow-up, 289 (26.4 %) participants reported at least one persistent functional somatic symptom, and these subjects were included in the main analyses (38.4 % males, mean age of 55.2 years (SD = 10.7), 36-82 years). High numbers of functional somatic symptoms ((OR) = 1.320; 95 % (CI) = 1.097-1.588), female sex (OR = 9.068; 95 % CI = 4.061-20.251), and high intelligence (OR = 1.402; 95 % CI = 1.001-1.963) were associated with an FSS diagnosis, while age (OR = 0.989; 95 % CI = 960-1.019) and

  13. Asperger syndrome in males over two decades: stability and predictors of diagnosis.

    Science.gov (United States)

    Helles, Adam; Gillberg, Carina I; Gillberg, Christopher; Billstedt, Eva

    2015-06-01

    To examine the diagnostic stability of a childhood diagnosis of Asperger Syndrome (AS) into adulthood in a prospective longitudinal study, and identify the predictors of stability. One hundred males with AS diagnosed in childhood (T0) according to Gillberg's AS criteria, were followed up prospectively into adulthood over an average of 19 years (range 13-26 years). Fifty males (mean age 30 years) participated in this second follow-up (T2) of the cohort. Seventy-six had participated in a previous follow-up (T1) at mean age 22 years (47 participated in both follow-ups). Diagnosis at T2 was assessed using three sets of diagnostic criteria (Gillberg's AS criteria, DSM-IV Pervasive Developmental Disorder (PDD) and DSM-5 Autism Spectrum Disorder (ASD) criteria) and compared to previous assessments. Background predictors of diagnostic stability were analyzed. General functioning at T2 was assessed and compared to T1. There was a decline in the stability of AS diagnosis over time, the rate dropping from 82% at T1 to 44% at T2, when using the Gillberg criteria. There was also a significant decrease in the rate of cases fulfilling any PDD diagnosis according to the DSM-IV, from 91% at T1 to 76% at T2 in the 47 cases followed up twice. Severity of autism spectrum symptoms at T1 was the main predictor of diagnostic stability at T2. Twenty percent of those meeting criteria for a PDD diagnosis according to DSM-IV, did not meet DSM-5 ASD criteria although they had marked difficulties in everyday life. Asperger Syndrome, when considered as an ASD/PDD diagnosis, was fairly stable into adulthood, but there was a significant increase over time in cases no longer meeting criteria for an ASD diagnosis according to the DSM-IV, or AS according to the Gillberg criteria. Cases with a stable diagnosis showed significantly more core ASD symptoms in adolescence/young adulthood. © 2014 Association for Child and Adolescent Mental Health.

  14. The metabolic syndrome.

    Science.gov (United States)

    Harris, Mark F

    2013-08-01

    The metabolic syndrome (MetSy) is increasingly common in Australia. It is associated with the rise in obesity and lifestyle risk behaviours. It is also controversial - its value in predicting cardiovascular disease and diabetes risk and in guiding therapy has been challenged. This article aims to provide advice on the diagnosis of the MetSy and the principles for its prevention and management in the context of primary care, taking into consideration aetiological factors and the complexity of managing its constituent risk factors. Diagnosis of the MetSy is useful in focusing attention on central adiposity and insulin resistance as risk factors both for the syndrome, and cardiovascular and diabetes morbidity and mortality. Its assessment requires measurement of waist circumference - a simple but seldom performed procedure in general practice. The most essential components for the prevention and management of the MetSy are measures to change diet and physical activity in order to achieve and sustain weight loss.

  15. [Ogilvie syndrome or acute colonic pseudo-obstruction. Current concepts in diagnosis and treatment].

    Science.gov (United States)

    Quintero Samudio, I; Cachafeiro Vilar, M; Valdovinos Díaz, M A

    1997-01-01

    Ogilvie's syndrome or acute colonic pseudo-obstruction is a motility disorder characterized by acute and progressive colonic distension. This syndrome occurs in hospitalized patients with several medical or surgical diseases with an unclear pathophysiology. Diagnosis is established by the clinical history, physical examination and radiological findings on plain abdominal X-ray. Treatment includes: 1. general measures to reduce colonic distension, 2. drugs that improve colon motility, 3. endoscopic colonic decompression and 4. surgery. Age, associated diseases, elapsed time and diameter of cecal dilatation, presence of necrosis and perforation are the main prognostic factors. Recurrence after medical treatment is 20-50 percent; intrahospital mortality is 30 percent. A practical algorithm for the management of these patients is proposed.

  16. Do Different Diagnostic Criteria Impact Polycystic Ovary Syndrome Diagnosis for Adolescents?

    Science.gov (United States)

    Akgül, Sinem; Düzçeker, Yasemin; Kanbur, Nuray; Derman, Orhan

    2017-12-09

    Although early diagnosis of polycystic ovary syndrome (PCOS) in adolescents might allow for earlier treatment and prevention of chronic disorders, incorrect or premature diagnosis carries risks of unnecessary treatment and psychological distress. There is no consensus concerning which diagnostic criteria to use for adolescents and current criteria vary. The objective of this study was to determine whether using different diagnostic criteria will affect PCOS diagnosis in adolescents. Fifty-two patients aged 13-18 years with at least 2 of the following criteria were included in the study: (1) oligomenorrhea or amenorrhea; (2) Clinical or biochemical hyperandrogenism; and (3) polycystic ovaries on ultrasonography. Patients were then categorized according to the 6 different criteria for PCOS. National Institutes of Health, Rotterdam criteria, Androgen Excess Society, Amsterdam criteria, Endocrine Society criteria, and the Pediatric Endocrine Society criteria. The characteristics of adolescents who were diagnosed with PCOS were also evaluated. Forty-one patients out of 52 (78.8%) received diagnosis with National Institutes of Health and Endocrine Society criteria, all with Rotterdam criteria, 45/52 (86.5%) with Androgen Excess Society criteria, 36/52 (69.2%) with Amsterdam criteria and 34/52 (65.4%) with the Pediatric Endocrine Society criteria. This study shows that the choice of guideline used does have a great effect on whether an adolescent received the PCOS diagnosis or not. For physicians using the broader criteria, care should be taken to ensure the patient does not receive diagnosis because of the physiological changes seen during puberty, which might mimic PCOS. For those using stricter criteria, close monitoring of patients who do not receive diagnosis is necessary to prevent chronic complications. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  17. Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging – A Case Report and Brief Review

    Science.gov (United States)

    Grover, Hemal; Sethi, Sanjay; Garg, Jatin; Ahluwalia, Amrit Pal

    2017-01-01

    Summary Background Prune Belly Syndrome (PBS) is a rare entity, usually found in male neonates. It comprises complex urinary tract anomalies, bilateral undescended testis and absence of anterior abdominal wall muscles. Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome (PPBS). Reports on PPBS do not highlight the radiological and imaging characteristics of this syndrome and the current literature on the role of newer imaging modalities, such as Magnetic Resonance Imaging (MRI), remains relatively sparse. We describe a new case of PPBS and emphasize the role of imaging, especially ultrasound and MRI in the process of diagnosis and briefly review the subject. Case Report A male infant of four months of age was referred for evaluation of left-sided cryptorchidism. Clinical examination revealed laxity of the left abdominal wall. Ultrasound examination of the abdomen, pelvis and scrotum was performed together with routine laboratory tests. Ultrasound examination was followed by intravenous urography, voiding cysto-urethrography and MRI of the abdomen. On ultrasound, the left testis was located in the inguinal canal, the right kidney was slightly enlarged and the left kidney could not be localized. Ultrasound appearances suggested chronic obstruction in the urinary bladder. Intravenous urography, voiding cysto-urethrography and MRI confirmed the ultrasound diagnosis and also revealed a left dysplastic kidney with a dilated, tortuous ureter. Clinical and imaging features were consistent with pseudo prune belly syndrome (PPBS). Conclusions We report a new occurrence of PPBS, a rare entity. The imaging approach for a comprehensive evaluation of the renal system in PPBS, especially with MRI, is emphasized. PMID:28580040

  18. Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging - A Case Report and Brief Review.

    Science.gov (United States)

    Grover, Hemal; Sethi, Sanjay; Garg, Jatin; Ahluwalia, Amrit Pal

    2017-01-01

    Prune Belly Syndrome (PBS) is a rare entity, usually found in male neonates. It comprises complex urinary tract anomalies, bilateral undescended testis and absence of anterior abdominal wall muscles. Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome (PPBS). Reports on PPBS do not highlight the radiological and imaging characteristics of this syndrome and the current literature on the role of newer imaging modalities, such as Magnetic Resonance Imaging (MRI), remains relatively sparse. We describe a new case of PPBS and emphasize the role of imaging, especially ultrasound and MRI in the process of diagnosis and briefly review the subject. A male infant of four months of age was referred for evaluation of left-sided cryptorchidism. Clinical examination revealed laxity of the left abdominal wall. Ultrasound examination of the abdomen, pelvis and scrotum was performed together with routine laboratory tests. Ultrasound examination was followed by intravenous urography, voiding cysto-urethrography and MRI of the abdomen. On ultrasound, the left testis was located in the inguinal canal, the right kidney was slightly enlarged and the left kidney could not be localized. Ultrasound appearances suggested chronic obstruction in the urinary bladder. Intravenous urography, voiding cysto-urethrography and MRI confirmed the ultrasound diagnosis and also revealed a left dysplastic kidney with a dilated, tortuous ureter. Clinical and imaging features were consistent with pseudo prune belly syndrome (PPBS). We report a new occurrence of PPBS, a rare entity. The imaging approach for a comprehensive evaluation of the renal system in PPBS, especially with MRI, is emphasized.

  19. [Intelligent systems tools in the diagnosis of acute coronary syndromes: A systemic review].

    Science.gov (United States)

    Sprockel, John; Tejeda, Miguel; Yate, José; Diaztagle, Juan; González, Enrique

    2017-03-27

    Acute myocardial infarction is the leading cause of non-communicable deaths worldwide. Its diagnosis is a highly complex task, for which modelling through automated methods has been attempted. A systematic review of the literature was performed on diagnostic tests that applied intelligent systems tools in the diagnosis of acute coronary syndromes. A systematic review of the literature is presented using Medline, Embase, Scopus, IEEE/IET Electronic Library, ISI Web of Science, Latindex and LILACS databases for articles that include the diagnostic evaluation of acute coronary syndromes using intelligent systems. The review process was conducted independently by 2 reviewers, and discrepancies were resolved through the participation of a third person. The operational characteristics of the studied tools were extracted. A total of 35 references met the inclusion criteria. In 22 (62.8%) cases, neural networks were used. In five studies, the performances of several intelligent systems tools were compared. Thirteen studies sought to perform diagnoses of all acute coronary syndromes, and in 22, only infarctions were studied. In 21 cases, clinical and electrocardiographic aspects were used as input data, and in 10, only electrocardiographic data were used. Most intelligent systems use the clinical context as a reference standard. High rates of diagnostic accuracy were found with better performance using neural networks and support vector machines, compared with statistical tools of pattern recognition and decision trees. Extensive evidence was found that shows that using intelligent systems tools achieves a greater degree of accuracy than some clinical algorithms or scales and, thus, should be considered appropriate tools for supporting diagnostic decisions of acute coronary syndromes. Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

  20. The Role of Lung Ultrasound in Diagnosis of Respiratory Distress Syndrome in Newborn Infants.

    Science.gov (United States)

    Liu, Jing; Cao, Hai Ying; Wang, Hua-Wei; Kong, Xiang Yong

    2015-02-01

    Respiratory distress syndrome (RDS) is one of the most common causes of neonatal respiratory failure and mortality. The risk of developing RDS decreases with both increasing gestational age and birth weight. The aim of this study was to evaluate the value of lung ultrasound in the diagnosis of respiratory distress syndrome (RDS) in newborn infants. From March 2012 to May 2013, 100 newborn infants were divided into two groups: RDS group (50 cases) and control group (50 cases). According to the findings of chest x-ray, there were 10 cases of grade II RDS, 15 grade III cases, and 25 grade IV cases in RDS group. Lung ultrasound was performed at bedside by a single expert. The ultrasound indexes observed in this study included pleural line, A-line, B-line, lung consolidation, air bronchograms, bilateral white lung, interstitial syndrome, lung sliding, lung pulse etc. In all of the infants with RDS, lung ultrasound consistently showed generalized consolidation with air bronchograms, bilateral white lung or alveolar-interstitial syndrome, pleural line abnormalities, A-line disappearance, pleural effusion, lung pulse, etc. The simultaneous demonstration of lung consolidation, pleural line abnormalities and bilateral white lung, or lung consolidation, pleural line abnormalities and A-line disappearance co-exists with a sensitivity and specificity of 100%. Besides, the sensitivity was 80% and specificity 100% of lung pulse for the diagnosis of neonatal RDS. This study indicates that using an ultrasound to diagnose neonatal RDS is accurate and reliable too. A lung ultrasound has many advantages over other techniques. Ultrasound is non-ionizing, low-cost, easy to operate, and can be performed at bedside, making this technique ideal for use in NICU.

  1. Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.

    Science.gov (United States)

    Saliba, Souha; Morel, Baptiste; Gonzales, Marie; Sénat, Marie-Victoire; Guilbaud, Lucie; Jouannic, Jean-Marie; Cassart, Marie; Garel, Catherine; Blondiaux, Eléonore

    2018-02-13

    Our purpose was to describe and compare the cranial and extracranial abnormalities of Pfeiffer syndrome on prenatal imaging with postnatal or postmortem findings, which may help in prenatal diagnosis of Pfeiffer syndrome (PS). Cases of fetuses with a confirmed diagnosis of PS over a 4-year period (2012-2016) were retrospectively reviewed. Prenatal imaging findings, postnatal, or postmortem investigations and genetic test results were analyzed. Four fetuses were ascertained, 3 with prenatal sonographic findings compatible with PS and one only diagnosed at postmortem. Cases were referred between 22 and 24 weeks' gestation. Three of the 4 cases were terminated, and details of postmortem/postnatal examination were available in all. There was variable presentation of features. Craniosynostosis was present in 3 cases, but only detected prenatally in 2. Extracranial signs included abnormalities of thumbs and/or big toes, detected prenatally in 3 of the 4 cases. A sacral appendage and vertebral or coronal clefts were present at postmortem in 3 cases but only detected prenatally in one. A cartilaginous tracheal sleeve was detected at postmortem in all 3 cases but not detected by prenatal ultrasound. Other findings included ventriculomegaly, posterior fossa, and facial anomalies. Molecular testing revealed mutations of the fibroblast growth factor receptor 2 (FGFR2) gene in all cases. Pfeiffer syndrome has a highly variable phenotype, and the absence of craniosynostosis on prenatal US does not exclude the diagnosis. Presence of abnormal thumbs and big toes, a sacral appendage, vertebral fusions, and coronal clefts should lead to prenatal molecular testing for PS. © 2018 John Wiley & Sons, Ltd.

  2. Update on the Pathology and Diagnosis of Interstitial Cystitis/Bladder Pain Syndrome: A Review

    Science.gov (United States)

    2016-01-01

    Interstitial cystitis/bladder pain syndrome (IC/BPS) is characterized by bladder discomfort, urinary frequency, urgency, and pelvic pain. The etiology and pathogenesis of this condition is still unknown and remains diagnosed by exclusion. The histologic findings are also neither specific for diagnosis nor correlated with symptoms. However, the definition and diagnostic criteria for the condition was established in the last decade. In this paper, we review the changes in the definition, terminology, and diagnostic scheme of IC/BPS, and summarize the histologic findings. We also briefly discuss some new pathologic suggestions and new urinary markers, focusing on the most promising ones. PMID:27032552

  3. 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.

  4. Case Report of a Patient with Diagnosis of Guillain-Barré Syndrome

    OpenAIRE

    Chládková, Karolína

    2014-01-01

    Title Case Report of a Patient with Diagnosis of Guillain-%DUUp 6yndrome Summary This thesis consists of two parts, a general part and a special part. The general part summarizes theoretical basis of the Guillain-%DUUp V\\QGURPH. It represents the etiology and pathogenesis of the disease, its clinical marks and course, diagnostics and cure. Forms of the syndrome are defined. The aim of the special part is a case report of physiotherapy care for a patient with Guillain-%DUUp V\\QGURPH ,W ZDV ZRU...

  5. Diagnosis and management of intersection syndrome as a cause of overuse wrist pain.

    Science.gov (United States)

    Chatterjee, Robin; Vyas, Jay

    2016-09-28

    Wrist pain due to repetitive motion or overuse is a common presentation in primary care. This case reports the rare condition of intersection syndrome as the cause of the wrist pain in an amateur tennis player. This is a non-infectious, inflammatory process that occurs where tendons in the first extensor compartment intersect the tendons in the second extensor compartment. Suitable history and examination provided the diagnosis, which was confirmed by MRI. Management consisted of early involvement of the multidisciplinary team, patient education, workplace and sporting adaptations, rest, analgesia, reduction of load, protection and immobilisation of the affected joint followed by a period of rehabilitation. 2016 BMJ Publishing Group Ltd.

  6. Vanishing bile duct syndrome and immunodeficiency preceding the diagnosis of Hodgkin lymphoma.

    Science.gov (United States)

    Yeh, P; Lokan, J; Anantharajah, A; Grigg, A

    2014-12-01

    Vanishing bile duct syndrome (VBDS) in association with Hodgkin lymphoma (HL) is well described but not well understood. We report an unusual case of a 75-year-old patient presenting with biopsy-proven VBDS and immunodeficiency, without identifiable cause, which showed a waxing and waning course, culminating in the development of HL 18 months later. To our knowledge, this is the first adult case in which VBDS preceded the diagnosis of HL by such a long period. © 2014 The Authors; Internal Medicine Journal © 2014 Royal Australasian College of Physicians.

  7. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  8. Diagnosis and treatments of Prader-Willi syndrome: a review of current consensuses

    Directory of Open Access Journals (Sweden)

    Alisa Vital'evna Vitebskaya

    2014-05-01

    Full Text Available We analyzed international consensuses of experts and clinical recommendations on diagnosis and treatment of Prader-Willi syndrome (PWS: PWS consensus diagnostic criteria (1993; US PWS Association (PWSA-USA consensus statements on evaluating of breathing abnormalities (2007, osteoporosis (2008, growth hormone treatment in PWS (2000 and 2009; Endocrine society clinical practice guideline on Prevention and treatment of pediatric obesity (2008; the Second Expert Meeting of the Comprehensive Care of Patients with PWS Consensus published as Recommendations for the diagnosis and management of PWS (2008. Historical analysis and comparison of recommendations are presented in this review article. Absence of Russian clinical practice guidelines on PWS patients management makes necessary the detailed study of listed documents.

  9. On the Question of the Diagnosis of Sudden Infant Death Syndrome

    Directory of Open Access Journals (Sweden)

    L. L. Nisevich

    2015-01-01

    Full Text Available Sudden Infant Death Syndrome (SIDS is one of the leading causes of postneonatal mortality of infants in most developed countries. This paper presents data on terminology and on the study of SIDS in developed countries, and also examines problems of SIDS diagnostic inRussia in comparison with the results of own researches, analyzes risk factors, which are universal as for SIDS, and also for perinatal and infant death in general. The large variability of SIDS diagnosis in Russia suggests that this diagnosis often does not comply with international standard: post-mortem examination of community-acquired sudden death cases is often carried out by a forensic expert, but not by a children's pathologist, and they do not use virological and microbiological methods of investigation. In some cases, there is no infant's record or case record from children's polyclinic.

  10. Vitamin D status is insufficient in the majority of children at diagnosis of nephrotic syndrome

    DEFF Research Database (Denmark)

    Nielsen, Cecilie Ane; Jensen, Jens-Erik Bech; Cortes, Dina

    2015-01-01

    (p = 0.048). CONCLUSION: The vitamin D status was insufficient in 93% of the patients. We suggest that vitamin D status in children with NS be measured routinely at the time of diagnosis so that an individual treatment strategy for vitamin D defi-ciency can be given. Further studies are needed......INTRODUCTION: Children with nephrotic syndrome (NS) are treated for at least 12 weeks with high doses of prednisolone, which may be harmful to the bones. Vitamin D deficiency is also harmful to the bones. METHODS: This was a prospective study of consecutive children with first episode of NS...... at the time of their diagnosis before treatment with glucocorticoids. The following plasma levels were measured: 25-hydroxy-vitamin-D (25(OH)D), albumin, ionised calcium, phosphate, parathyroid hormone (PTH), alkaline phosphatase and creatinine. The glomerular filtration rate (GFR) was estimated from...

  11. Vitamin D status is insufficient in the majority of children at diagnosis of nephrotic syndrome

    DEFF Research Database (Denmark)

    Nielsen, Cecilie Ane; Jensen, Jens-Erik Bech; Cortes, Dina

    2015-01-01

    (p = 0.048). CONCLUSION: The vitamin D status was insufficient in 93% of the patients. We suggest that vitamin D status in children with NS be measured routinely at the time of diagnosis so that an individual treatment strategy for vitamin D deficiency can be given. Further studies are needed......INTRODUCTION: Children with nephrotic syndrome (NS) are treated for at least 12 weeks with high doses of prednisolone, which may be harmful to the bones. Vitamin D deficiency is also harmful to the bones. METHODS: This was a prospective study of consecutive children with first episode of NS...... at the time of their diagnosis before treatment with glucocorticoids. The following plasma levels were measured: 25-hydroxy-vitamin-D (25(OH)D), albumin, ionised calcium, phosphate, parathyroid hormone (PTH), alkaline phosphatase and creatinine. The glomerular filtration rate (GFR) was estimated from...

  12. Boys with Asperger Syndrome Grow Up: Psychiatric and Neurodevelopmental Disorders 20 Years After Initial Diagnosis.

    Science.gov (United States)

    Gillberg, I Carina; Helles, Adam; Billstedt, Eva; Gillberg, Christopher

    2016-01-01

    We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had never met criteria for an additional psychiatric/neurodevelopmental diagnosis and more than half had ongoing comorbidity (most commonly either ADHD or depression or both). Any psychiatric comorbidity increased the risk of poorer outcome. The minority of the AS group who no longer met criteria for a full diagnosis of an autism spectrum disorder were usually free of current psychiatric comorbidity. The high rate of psychiatric/neurodevelopmental comorbidities underscores the need for a full psychiatric/neurodevelopmental assessment at follow-up of males with AS.

  13. Congenital Horner′s syndrome and the usefulness of the apraclonidine test in its diagnosis

    Directory of Open Access Journals (Sweden)

    Mirzai Hasan

    2006-01-01

    Full Text Available We present a seven-month-old baby with miosis of the left pupil, left hypochromia, mild ipsilateral ptosis, left hemifacial anhidrosis and asymmetrical facial flushing. A diagnosis of Horner′s syndrome (HS was presumed and was confirmed by instillation of apraclonidine eye drops. Miosis was reversed upon apraclonidine instillation. Magnetic resonance imaging of the head, neck and thorax and ultrasonography of the neck and abdomen did not reveal any pathological conditions. Although delivery-related brachial plexus injury is known as the most common cause of congenital HS, it should be investigated and should include neuroimaging of the sympathetic pathway, to exclude a serious underlying disease. As in our case, a specific etiology may not always be elicited. Pharmacological testing with apraclonidine may be a practical alternative to cocaine in the diagnosis of HS.

  14. Positive predictive value of the infant respiratory distress syndrome diagnosis in the Danish National Patient Registry

    Directory of Open Access Journals (Sweden)

    Thygesen SK

    2013-08-01

    Full Text Available Sandra Kruchov Thygesen, Morten Olsen, Christian Fynbo ChristiansenDepartment of Clinical Epidemiology, Aarhus University Hospital, Aarhus, DenmarkBackground: Infant respiratory distress syndrome (IRDS is the most common respiratory disease in preterm infants, and is associated with considerable morbidity and mortality. Valid data on IRDS are important in clinical epidemiological research.Objectives: The objective of this study was to estimate the positive predictive value (PPV of the IRDS diagnosis registered in the population-based Danish National Patient Registry according to the International Classification of Diseases, 8th and 10th revisions.Methods: Between January 1, 1977 and December 31, 2008, we randomly selected three patients per year, 96 in total, who were registered with an IRDS diagnosis in the Danish National Patient Registry and living in the northern part of Denmark. Data on the infants included information on the presence of predefined clinical symptoms. We defined IRDS as the presence of at least two of four clinical symptoms (tachypnea, retractions or nasal flaring, grunting, and central cyanosis, which had to be present for more than 30 minutes. Using medical record review as the reference standard, we computed the positive predictive value of the registered IRDS diagnosis including 95% confidence intervals (CIs.Results: We located the medical record for 90 of the 96 patients (94%, and found an overall PPV of the IRDS diagnosis of 81% (95% CI 72%–88%. This did not vary substantially between primary and secondary diagnoses. The PPV was higher, at 89% (95% CI 80%–95%, for preterm infants born before 37 weeks of gestation.Conclusion: The PPV of the IRDS diagnosis in the Danish National Patient Registry is reasonable when compared with symptoms described in the corresponding medical records. The Danish National Patient Registry is a useful data source for studies of IRDS, particularly if restricted to preterm infants

  15. Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure

    Directory of Open Access Journals (Sweden)

    Francisco A. Nicanor

    2005-10-01

    Full Text Available INTRODUCTION: The urofacial or Ochoa syndrome is a rare disease characterized by the presence of functional obstructive uropathy associated with peculiar facial features when patients attempt to smile or laugh. Unfortunately, many of these patients remain without proper diagnosis or adequate treatment due to lack of recognition of the disease. This can ultimately result in upper tract deterioration and eventual renal failure. We present our experience with this rare syndrome. MATERIALS AND METHODS: We identified 3 patients who presented initially with acute renal failure, urinary tract infection (UTI and severe dysfunctional elimination. All patients were thoroughly evaluated, including screening for spinal cord anomalies, and were subsequently diagnosed with urofacial syndrome. RESULTS: At the outset, the two older patients (aged 4 and 9 years presented with the typical facial features when attempting to smile or laugh. One patient in the newborn period presented with urinary and fecal retention and septicemia and, to our knowledge, represents the youngest case of urofacial syndrome reported so far. All patients were evaluated with ultrasonography, renal scan, voiding cystourethrogram (VCUG and urodynamics. Findings included hydronephrosis and a thick-walled, trabeculated bladder with poor compliance and detrusor hypereflexia respectively in each patient. All were subsequently treated with clean intermittent catheterization (CIC, antibiotic prophylaxis and anticholinergic therapy. One patient required appendicovesicostomy for CIC due to discomfort secondary to a sensate urethra. CONCLUSIONS: Our series demonstrates that early recognition of this rare syndrome is necessary to adequately treat and prevent upper tract deterioration in these unique individuals. Although the urofacial is difficult to diagnose in infants, cognizance must be maintained in order to prevent severe subsequent sequalae.

  16. [Late diagnosis of Morquio syndrome. Clinical histopathological findings in a rare mucopolysaccharidosis].

    Science.gov (United States)

    Gösele, S; Dithmar, S; Holz, F G; Völcker, H E

    2000-08-01

    The Morquio syndrome is a rare autosomal-recessive mucopolysaccharidosis. The Morquio syndrome is characterized by a reduced activity of N-acetylgalactosamine-6-sulfate-sulfatase (type A), or beta-galactosidase (type B). This deficiency leads to a lysosomal storage disease with accumulation of keratan sulfate und chondroitin-6-sulfate in connective tissue, skeletal system und teeth. Consequently, abnormalities of the skeletal system, aortic valvular disease and dental abnormalities occur. Ophthalmologically, diffuse corneal opacification and alterations of the trabecular meshwork--occasionally leading to glaucoma--can be found. A 44-year-old woman asked for perforating corneal transplantation because of corneal clouding on both eyes. Besides, she suffered from dwarfism of unclear reason. The diffuse corneal clouding and the dwarfism suggested a systemic-metabolic disease. Thus, further radiologic and medical investigation was started. Radiologically, a kyphoscoliosis, a pectus carinatum, a luxation of both hips, and a gonarthrosis were recognized. Fibroblast culture of a skin biopsy showed reduced activity of N-acetyl-galactosamine-6-sulfate-sulfatase. This was the proof of Morquio syndrome type A. The explanted corneal button showed granules of acid mucopolysaccharides. Those were in the epithelial and endothelial cells and in the corneal stroma. To our knowledge, a Morquio syndrome has never been diagnosed with an adult and only after the ophthalmologist gave a hint. This can only be explained by the comparative mild expression of the disease in this patient. Diagnosis of Morquio syndrome is important because the frequent odontoid hypoplasia can lead to a deadly atlanto-axial instability, if not treated.

  17. Suggested immobilization test for diagnosis of restless legs syndrome in Parkinson's disease.

    Science.gov (United States)

    De Cock, Valérie Cochen; Bayard, Sophie; Yu, Huan; Grini, Magda; Carlander, Bertrand; Postuma, Ron; Charif, Mahmoud; Dauvilliers, Yves

    2012-05-01

    Diagnosis of restless leg syndrome (RLS) in Parkinson's disease (PD) is difficult because of clinical confounds. The suggested immobilization test (SIT) is validated for diagnosis of primary RLS. This study evaluated the usefulness of the SIT for diagnosis of RLS in PD. We compared SIT scores, as well as polysomnography measures in 50 patients with PD (25 with RLS, 25 without), 25 patients with primary RLS, and 25 age/sex matched controls. Mean leg discomfort score was increased in patients with PD and RLS compared to PD without RLS, and also in patients with primary RLS compared to controls. Leg discomfort was significantly higher at the end of the test in patients with RLS compared to patients without RLS. Intensity of leg discomfort was similar between patients with RLS, with or without PD. Using a mean leg discomfort cutoff of 11, we showed sensitivity of 91% and specificity of 72% for RLS diagnosis in PD during symptomatic time intervals. Periodic leg movements index during the SIT did not differ between groups. Periodic leg movements index during sleep and wakefulness was increased in patients with primary RLS compared to controls, but did not differ between patients with PD, with and without RLS. The sensory SIT is a simple test that may help diagnose RLS in patients with PD. Copyright © 2012 Movement Disorder Society.

  18. Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

    Science.gov (United States)

    Wakeling, Emma L; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi; O'Connell, Susan M; Salem, Jennifer; Bliek, Jet; Canton, Ana P M; Chrzanowska, Krystyna H; Davies, Justin H; Dias, Renuka P; Dubern, Béatrice; Elbracht, Miriam; Giabicani, Eloise; Grimberg, Adda; Grønskov, Karen; Hokken-Koelega, Anita C S; Jorge, Alexander A; Kagami, Masayo; Linglart, Agnes; Maghnie, Mohamad; Mohnike, Klaus; Monk, David; Moore, Gudrun E; Murray, Philip G; Ogata, Tsutomu; Petit, Isabelle Oliver; Russo, Silvia; Said, Edith; Toumba, Meropi; Tümer, Zeynep; Binder, Gerhard; Eggermann, Thomas; Harbison, Madeleine D; Temple, I Karen; Mackay, Deborah J G; Netchine, Irène

    2017-02-01

    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 small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood.

  19. Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.

    Science.gov (United States)

    De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine

    2015-07-01

    Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

  20. Atypical odontalgia. Its aetiology and prognosis.

    Science.gov (United States)

    Brooke, R I; Schnurr, R F

    1993-12-01

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

  1. 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

  2. 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

  3. 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.

  4. Development of criteria for a diagnosis: lessons from the night eating syndrome

    Science.gov (United States)

    Stunkard, Albert J.; Allison, Kelly C.; Geliebter, Allan; Lundgren, Jennifer D.; Gluck, Marci E.; O’Reardon, John P.

    2013-01-01

    Criteria for inclusion of diagnoses of Axis I disorders in the forthcoming Diagnostic and Statistical Manual (DSM-V) of the American Psychiatric Association are being considered. The 5 criteria that were proposed by Blashfield et al as necessary for inclusion in DSM-IV are reviewed and are met by the night eating syndrome (NES). Seventy-seven publications in refereed journals in the last decade indicate growing recognition of NES. Two core diagnostic criteria have been established: evening hyperphagia (consumption of at least 25% of daily food intake after the evening meal) and/or the presence of nocturnal awakenings with ingestions. These criteria have been validated in studies that used self-reports, structured interviews, and symptom scales. Night eating syndrome can be distinguished from binge eating disorder and sleep-related eating disorder. Four additional features attest to the usefulness of the diagnosis of NES: (1) its prevalence, (2) its association with obesity, (3) its extensive comorbidity, and (4) its biological aspects. In conclusion, research on NES supports the validity of the diagnosis and its inclusion in DSM-V. PMID:19683608

  5. MYD88 L265P mutation contributes to the diagnosis of Bing Neel syndrome.

    Science.gov (United States)

    Poulain, Stéphanie; Boyle, Eileen M; Roumier, Christophe; Demarquette, Hélène; Wemeau, Mathieu; Geffroy, Sandrine; Herbaux, Charles; Bertrand, Elisabeth; Hivert, Bénédicte; Terriou, Louis; Verrier, Albert; Pollet, Jean Paul; Maurage, Claude Alain; Onraed, Brigitte; Morschhauser, Franck; Quesnel, Bruno; Duthilleul, Patrick; Preudhomme, Claude; Leleu, Xavier

    2014-11-01

    Bing-Neel syndrome (BNS), a rare neurological syndrome associated with Waldenström macroglobulinaemia (WM), is a direct involvement of the central nervous system by lymphoplasmacytoid cells characterized with an adverse prognostic. The MYD88 L265P mutation has been identified in the vast majority of patients with WM. The diagnosis of BNS is often challenging because of the variety of clinical presentations associated with difficult histological techniques. We hypothesized that identification of MYD88 L265P mutation in the cerebrospinal fluid (CSF) would contribute to the diagnosis of BNS in addition to imaging, flow cytometry and cytology. We identified MYD88 L265P mutation in the CSF and the bone marrow of all cases of BNS using quantitative polymerase chain reaction qPCR and Sanger sequencing. Copy neutral loss of heterozygosity including MYD88 was observed in one case. No mutation of CXCR4, CD79A and CD79B was observed in parallel. We further showed that monitoring the quantitative expression of MYD88 L265P mutation might be a useful molecular tool to monitor response to chemotherapy using qPCR. In conclusion, identification of MYD88 L265P mutation might be a new molecular-based biomarker tool to add to the diagnostic and monitoring armamentarium for BNS. © 2014 John Wiley & Sons Ltd.

  6. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

    Directory of Open Access Journals (Sweden)

    von Kodolitsch Y

    2015-06-01

    Full Text Available Yskert von Kodolitsch,1 Julie De Backer,2 Helke Schüler,1 Peter Bannas,3 Cyrus Behzadi,3 Alexander M Bernhardt,1 Mathias Hillebrand,1 Bettina Fuisting,4 Sara Sheikhzadeh,1 Meike Rybczynski,1 Tilo Kölbel,1 Klaus Püschel,5 Stefan Blankenberg,1 Peter N Robinson61Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany; 2Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium; 3Diagnostic and Interventional Radiology Department and Clinic, 4Department of Ophthalmology, 5Department of Legal Medicine, University Hospital Eppendorf, Hamburg, Germany; 6Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany Abstract: Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS: the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1; and the revised Ghent nosology in 2010 (Ghent-2. We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%–53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2 and in persons not having a causative FBN1 mutation (15% versus 13%. Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of

  7. 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

  8. 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

  9. Imaging in mediastinitis: a systematic review based on aetiology

    Energy Technology Data Exchange (ETDEWEB)

    Akman, C. E-mail: cakman11@superonline.com; Kantarci, F.; Cetinkaya, S

    2004-07-01

    Mediastinitis refers to inflammation of the tissues located in the middle chest cavity. It can be secondary to infectious or non-infectious causes and depending on the aetiology may be acute or chronic. The majority of cases of acute mediastinitis are secondary to oesophageal perforation and open chest surgery. Less common causes include tracheal, bronchial perforation or direct extension of infection from adjacent tissues. Chronic or slowly developing mediastinitis mostly arise from tuberculosis, histoplasmosis, other fungal infections, cancer, or sarcoidosis. In a minority of cases the aetiology is lymphatic obstruction or an autoimmune disease. Radiological imaging plays an essential role in the diagnosis and therapeutic approach to mediastinitis. Generally, the initial radiological work-up includes radiographic studies either with or without contrast material. However, conventional chest radiography may be misleading in the diagnosis of mediastinitis. Cross-sectional imaging techniques are generally required for diagnosis and evaluation of the site and extent of mediastinal involvement. Computed tomography and magnetic resonance imaging may also guide the choice of the optimal therapeutic approach.

  10. Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.

    Science.gov (United States)

    Ingham, Danielle; Diggle, Christine P; Berry, Ian; Bristow, Claire A; Hayward, Bruce E; Rahman, Nazneen; Markham, Alexander F; Sheridan, Eamonn G; Bonthron, David T; Carr, Ian M

    2013-06-01

    Heterozygous mutations in DNA mismatch repair (MMR) genes result in predisposition to colorectal cancer (hereditary nonpolyposis colorectal cancer or Lynch syndrome). Patients with biallelic mutations in these genes, however, present earlier, with constitutional mismatch repair deficiency cancer syndrome (CMMRD), which is characterized by a spectrum of rare childhood malignancies and café-au-lait skin patches. The hallmark of MMR deficiency, microsatellite instability (MSI), is readily detectable in tumor DNA in Lynch syndrome, but is also present in constitutional DNA of CMMRD patients. However, detection of constitutional or germline MSI (gMSI) has hitherto relied on technically difficult assays that are not routinely applicable for clinical diagnosis. Consequently, we have developed a simple high-throughput screening methodology to detect gMSI in CMMRD patients based on the presence of stutter peaks flanking a dinucleotide repeat allele when amplified from patient blood DNA samples. Using the three different microsatellite markers, the gMSI ratio was determined in a cohort of normal individuals and 10 CMMRD patients, with biallelic germline mutations in PMS2 (seven patients), MSH2 (one patient), or MSH6 (two patients). Subjects with either PMS2 or MSH2 mutations were easily identified; however, this measure was not altered in patients with CMMRD due to MSH6 mutation. © 2013 Wiley Periodicals, Inc.

  11. Orthopedic Lesions in Tethered Cord Syndrome: The Importance of Early Diagnosis and Treatment on Patient Outcome

    Directory of Open Access Journals (Sweden)

    Mohammad Gharedaghi

    2014-06-01

    Full Text Available Background:   Many of the patients with tethered cord syndrome (TCS are admitted because of neurological symptoms, while some are admitted because of their orthopedic, urologic, anorectal, and dermatologic manifestations.Consequently, this study aimed to evaluate the importance of early diagnosis and treatment of tethered cord syndrome on patient outcome. Methods: Fourty-three patients who underwent surgery because of tethered cord syndrome from 2006 to 2010 were studied. Many of these cases were referred by orthopedic surgeons. All of the findings were recorded and follow up was done twice (1 and 3 years after surgery. Results: Thirty-seven patients were less than 7 years old and 6 were between 17 to 33 years old. According to clinical and neurological exams, satisfactory results were achieved in both groups. Those with early surgical intervention, especially in their early follow up assessment, had the best results. Seventeen cases were referred by an orthopedic surgeon because of manifestations such as leg weakness and numbness, leg pain and spasticity, pes cavus, claw toes, and leg or foot length discrepancy. Cerebrospinal fluid leakage occurred in 3 cases after surgery and 1 showed pseudomeningocele formation. Conclusions: After one year of follow up, initially the results of the treatment were better in early operated cases, but in later follow up assessment (after 3 years the results were almost the same in both of the groups.

  12. Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

    Science.gov (United States)

    Fichera, Alessandro; De Luna, Vincenzo; Mancini, Federico; Caterini, Roberto

    2016-01-01

    Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1). The most important features affect the cardiovascular system, eyes, and skeleton. The aim of this study was to report the most frequent musculoskeletal alterations observed in 146 patients affected by Marfan syndrome. Fifty-four patients (37%) underwent cardiac surgery and 11 of them received emergent surgery for acute aortic dissection. Ectopia lentis was found in 68 patients (47%) whereas myopia above 3D occurred in 46 patients (32%). Musculoskeletal anomalies were observed in all patients with Marfan syndrome. In 88 patients (60.2%), the associated “wrist and thumb sign” was present; in 58 patients (39.7%), pectus carinatum deformity; in 44 patients (30.1%), pectus excavatum; in 49 patients (33.5%), severe flatfoot; in 31 patients (21.2%), hindfoot deformity; in 54 patients (36.9%), reduced US/LS ratio or increased arm span-height ratio; in 37 patients (25.3%), scoliosis or thoracolumbar kyphosis; in 22 patients (15%), reduced elbow extension (170° or less). Acetabular protrusion was ascertained on radiographs in 27 patients (18.4%). Orthopaedic aspects of the disease are very important for an early diagnosis; however, we have not observed definite correlations between the extent of orthopaedic involvement and aortic complications. PMID:28050285

  13. Tourette syndrome and tic disorders: overview and practical guide to diagnosis and treatment.

    Science.gov (United States)

    Swain, James E; Leckman, James F

    2005-07-01

    This is a practical review of Tourette syndrome, including phenomenology, natural history, and state-of-the-art assessment and treatment. Computerized literature searches were conducted under the keywords Tourette syndrome,tics, and children-adolescents. Studies have documented the natural history of Tourette syndrome and its frequent co-occurrence with attention problems, obsessive-compulsive disorder (OCD), and a range of other mood and anxiety disorders, which are often of primary concern to patients and their families. Proper diagnosis and education are often very helpful for patients, parents, siblings, teachers, and peers. When necessary, available anti-tic treatments have proven efficacious. First-line options include the alpha adrenergic agents and the atypical neuroleptics, as well as behavioral interventions such as habit reversal. The study of tics and Tourette symdrome has led to the development of several pathophysiological models and helped in the development of management options. However, fully explanatory models are still needed that would allow for accurate prognostication in the course of illness and the development of improved treatments.

  14. Microscopic colitis and small intestinal bacterial overgrowth--diagnosis behind the irritable bowel syndrome?

    Science.gov (United States)

    Stoicescu, Adriana; Andrei, M; Becheanu, G; Stoicescu, M; Nicolaie, T; Diculescu, M

    2012-01-01

    Some patients previously diagnosed with irritable bowel syndrome (IBS) may develop microscopic colitis or small intestinal bacterial overgrowth (SIBO). To estimate the prevalence of microscopic colitis and SIBO in patients with IBS, to evaluate the symptoms and the efficacy of treatment. We examined patients with IBS admitted in our clinic during a three-year period. We identified patients with microscopic colitis by performing total colonoscopy with multiple biopsies from normal intestinal mucosa and those with SIBO by performing a H2-breath test with glucose. We compared the symptoms and the effectiveness of the treatment. Out of the 132 patients initially diagnosed with IBS 3% (n=4) had microscopic colitis and 43.9% (n=58) had SIBO. Diarrhea was the main symptom in patients with microscopic colitis and SIBO (p=0.041), while abdominal pain, abdominal bloating and flatulence were prominent in IBS patients (p=0.042; p=0.039; p=0.048). Specific treatment with rifaximin in SIBO patients negativated H2-breath test in 70.9% cases. Patients suspected to have irritable bowel syndrome should be evaluated for microscopic colitis and SIBO. The proper diagnosis and the specific treatment may cure some difficult cases of the so called "irritable bowel syndrome".

  15. Bodily distress syndrome: A new diagnosis for functional disorders in primary care?

    Science.gov (United States)

    Budtz-Lilly, Anna; Schröder, Andreas; Rask, Mette Trøllund; Fink, Per; Vestergaard, Mogens; Rosendal, Marianne

    2015-12-15

    Conceptualisation and classification of functional disorders appear highly inconsistent in the health-care system, particularly in primary care. Numerous terms and overlapping diagnostic criteria are prevalent of which many are considered stigmatising by general practitioners and patients. The lack of a clear concept challenges the general practitioner's decision-making when a diagnosis or a treatment approach must be selected for a patient with a functional disorder. This calls for improvements of the diagnostic categories. Intense debate has risen in connection with the release of the fifth version of the 'Diagnostic and Statistical Manual of Mental Disorders' and the current revision of the 'International Statistical Classification of Diseases and Related Health Problems'. We aim to discuss a new evidence based diagnostic proposal, bodily distress syndrome, which holds the potential to change our current approach to functional disorders in primary care. A special focus will be directed towards the validity and utility criteria recommended for diagnostic categorisation. A growing body of evidence suggests that the numerous diagnoses for functional disorders listed in the current classifications belong to one family of closely related disorders. We name the underlying phenomenon 'bodily distress'; it manifests as patterns of multiple and disturbing bodily sensations. Bodily distress syndrome is a diagnostic category with specific criteria covering this illness phenomenon. The category has been explored through empirical studies, which in combination provide a sound basis for determining a symptom profile, the diagnostic stability and the boundaries of the condition. However, as bodily distress syndrome embraces only the most common symptom patterns, patients with few but impairing symptoms are not captured. Furthermore, the current lack of treatment options may also influence the acceptance of the proposed diagnosis. Bodily distress syndrome is a diagnostic

  16. Prenatal diagnosis of 22q11.2 deletion syndrome associated with right aortic arch, left ductus arteriosus, cardiomegaly, and pericardial effusion

    Directory of Open Access Journals (Sweden)

    Yen-Ni Chen

    2016-02-01

    Conclusion: Chromosome abnormalities have been found in patients with RAA. Prenatal diagnosis of RAA with or without intracardiac or extracardiac anomalies should include a diagnosis of 22q11.2 deletion syndrome.

  17. Difficulties in the diagnosis of ACTH-dependent Cushings syndrome in a patient after left adrenalectomy and treated with glucocorticoids

    International Nuclear Information System (INIS)

    Brzezinska, B.; Junik, R.; Kaminska, A.; Zielinski, G.

    2009-01-01

    Cushings syndrome (CS), that is a consequence of chronic excess of corticosteroides, is most frequently of iatrogenic origin. Corticotropin secreting pituitary adenomas are responsible for most cases of endogenous Cushings syndrome. Difficulties in the diagnosis and treatment of ACTH-dependent Cushings syndrome concern with localization of the source of pathological ACTH secretion, particularly when magnetic resonance imaging is unable to identify the pituitary microadenoma. In this paper we present the case of a patient with symptoms of Cushings syndrome and describe problems with localization of the source of hypercortisolemia. The diagnostic process was additionally complicated by the treatment with corticosteroids, occasionally applied due to concomitant diseases. This delayed the right diagnosis and treatment. (authors)

  18. [Difficulties in the diagnosis of ACTH-dependent Cushing's syndrome in a patient after left adrenalectomy and treated with glucocorticoids].

    Science.gov (United States)

    Brzezińska, Barbara; Junik, Roman; Kamińska, Anna; Zieliński, Grzegorz

    2009-01-01

    Cushing's syndrome (CS), that is a consequence of chronic excess of corticosteroides, is most frequently of iatrogenic origin. Corticotropin secreting pituitary adenomas are responsible for most cases of endogenous Cushing' s syndrome. Difficulties in the diagnosis and treatment of ACTH-dependent Cushing's syndrome concern with localization of the source of pathological ACTH secretion, particularly when magnetic resonance imaging is unable to identify the pituitary microadenoma. In this paper we present the case of a patient with symptoms of Cushing's syndrome and describe problems with localization of the source of hypercortisolemia. The diagnostic process was additionally complicated by the treatment with corticosteroids, occasionally applied due to concomitant diseases. This delayed the right diagnosis and treatment.

  19. Exertional Medial Compartment Syndrome of the Foot: Referred Pain and Sequelae of Delayed Diagnosis-A Case Report.

    Science.gov (United States)

    Park, Young Hwan; Ahn, Jeong Hwan; Choi, Gi Won; Kim, Hak Jun

    2018-04-04

    In a 31-year-old man, the diagnosis of medial compartment syndrome of foot was delayed for 8 days. In contrast to previously reported cases, the patient presented with mainly bilateral lateral thigh-referred pain rather than foot pain. Although delayed decompression of the medial compartment provided dramatic relief of the referred pain, the patient complained of sensory deficit at the medial side of the foot and flexion deformity of the great toe at the final follow-up visit. Medial compartment syndrome of the foot can cause referred pain, and delayed or missed diagnosis can cause irreversible damage. Therefore, prompt diagnosis of compartment syndrome is crucial, and clinicians must consider the possibility of referred pain when the origin of pain is uncertain.

  20. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

    Science.gov (United States)

    von Kodolitsch, Yskert; De Backer, Julie; Schüler, Helke; Bannas, Peter; Behzadi, Cyrus; Bernhardt, Alexander M; Hillebrand, Mathias; Fuisting, Bettina; Sheikhzadeh, Sara; Rybczynski, Meike; Kölbel, Tilo; Püschel, Klaus; Blankenberg, Stefan; Robinson, Peter N

    2015-01-01

    Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2). We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%–53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2) and in persons not having a causative FBN1 mutation (15% versus 13%). Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of diagnostic criteria include acceptance by patients, patient organizations, clinicians and scientists, practicability, costs, and the reduction of anxiety. Since the utility of a diagnosis or exclusion of MFS is context-dependent, prioritization of utilities is a strategic decision in the process of nosology development. Screening tests for MFS should be used to identify persons with MFS. To confirm the diagnosis of MFS, Ghent-1 and Ghent-2 perform similarly, but Ghent-2 is easier to use. To maximize the utility of the diagnostic criteria of MFS, a fair and transparent process of nosology development is essential. PMID:26124674

  1. Gender-specific uncertainties in the diagnosis of acute coronary syndrome.

    Science.gov (United States)

    Hillinger, Petra; Twerenbold, Raphael; Wildi, Karin; Rubini Gimenez, Maria; Jaeger, Cedric; Boeddinghaus, Jasper; Nestelberger, Thomas; Grimm, Karin; Reichlin, Tobias; Stallone, Fabio; Puelacher, Christian; Sabti, Zaid; Kozhuharov, Nikola; Honegger, Ursina; Ballarino, Paola; Miro, Oscar; Denhaerynck, Kris; Ekrem, Temizel; Kohler, Claudia; Bingisser, Roland; Osswald, Stefan; Mueller, Christian

    2017-01-01

    It is unknown whether higher rates of delayed diagnosis and misdiagnosis of acute coronary syndrome (ACS) in women might have contributed to the poorer outcome of women. In a prospective diagnostic multicenter study, we recruited patients presenting to the emergency department (ED) with any kind of chest discomfort/chest pain with onset or peak within the last 12 h. We quantified early diagnostic uncertainty for the presence of ACS among treating physicians at the ED after 90 min, possibly responsible for delayed diagnosis, using a visual analogue scale. Late diagnostic uncertainty, possibly responsible for misdiagnosis, was defined as disagreement among two independent cardiologists' adjudication of the final diagnosis after complete work-up. Among 2795 patients (897 women and 1898 men), ACS was the adjudicated final diagnosis in 24 % of women and 35 % of men. Early diagnostic accuracy of clinical judgment of the ED physician for ACS as quantified by the area under the receiver-operating characteristics curve was 0.89 (95 % CI 0.87-0.92) in women and 0.86 (95 % CI 0.85-0.88) in men (p = 0.046). Late diagnostic uncertainty regarding the diagnosis of ACS was 5 % in women and 7 % in men (p = 0.069). Diagnostic uncertainty for the presence of ACS in women is not more common as compared to men and does, therefore, not explain the poorer outcome observed in women with ACS. URL: http://www.clinicaltrials.gov . Unique identifier: NCT00470587.

  2. A Belgian survey on the diagnosis of asthma–COPD overlap syndrome

    Science.gov (United States)

    Cataldo, Didier; Corhay, Jean-Louis; Derom, Eric; Louis, Renaud; Marchand, Eric; Michils, Alain; Ninane, Vincent; Peché, Rudi; Pilette, Charles; Vincken, Walter; Janssens, Wim

    2017-01-01

    Introduction Patients with chronic airway disease may present features of both asthma and COPD, commonly referred to as asthma–COPD overlap syndrome (ACOS). Recommendations on their diagnosis are diffuse and inconsistent. This survey aimed to identify consensus on criteria for diagnosing ACOS. Methods A Belgian expert panel developed a survey on ACOS diagnosis, which was completed by 87 pulmonologists. Answers chosen by ≥70% of survey respondents were considered as useful criteria for ACOS diagnosis. The two most frequently selected answers were considered as major criteria, others as minor criteria. The expert panel proposed a minimal requirement of two major criteria and one minor criterion for ACOS diagnosis. Respondents were also asked which criteria are important for considering inhaled corticosteroids prescription in a COPD patient. Results To diagnose ACOS in COPD patients, major criteria were “high degree of variability in airway obstruction over time (change in forced expiratory volume in 1 second ≥400 mL)” and “high degree of response to bronchodilators (>200 mL and ≥12% predicted above baseline)”. Minor criteria were “personal/family history of atopy and/or IgE sensitivity to ≥1 airborne allergen”, “elevated blood/sputum eosinophil levels and/or increased fractional exhaled nitric oxide”, “diagnosis of asthma 40 years”; “emphysema on chest computed tomography scan”. Conclusion Specific criteria were identified that may guide physicians to a more uniform diagnostic approach for ACOS in COPD or asthma patients. These criteria are largely similar to those used to prescribe inhaled corticosteroids in COPD. PMID:28243078

  3. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome.

    Science.gov (United States)

    von Kodolitsch, Yskert; De Backer, Julie; Schüler, Helke; Bannas, Peter; Behzadi, Cyrus; Bernhardt, Alexander M; Hillebrand, Mathias; Fuisting, Bettina; Sheikhzadeh, Sara; Rybczynski, Meike; Kölbel, Tilo; Püschel, Klaus; Blankenberg, Stefan; Robinson, Peter N

    2015-01-01

    Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2). We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%-53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2) and in persons not having a causative FBN1 mutation (15% versus 13%). Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of diagnostic criteria include acceptance by patients, patient organizations, clinicians and scientists, practicability, costs, and the reduction of anxiety. Since the utility of a diagnosis or exclusion of MFS is context-dependent, prioritization of utilities is a strategic decision in the process of nosology development. Screening tests for MFS should be used to identify persons with MFS. To confirm the diagnosis of MFS, Ghent-1 and Ghent-2 perform similarly, but Ghent-2 is easier to use. To maximize the utility of the diagnostic criteria of MFS, a fair and transparent process of nosology development is essential.

  4. European evidence-based recommendations for diagnosis and treatment of paediatric antiphospholipid syndrome: the SHARE initiative.

    Science.gov (United States)

    Groot, Noortje; de Graeff, Nienke; Avcin, Tadej; Bader-Meunier, Brigitte; Dolezalova, Pavla; Feldman, Brian; Kenet, Gili; Koné-Paut, Isabelle; Lahdenne, Pekka; Marks, Stephen D; McCann, Liza; Pilkington, Clarissa A; Ravelli, Angelo; van Royen-Kerkhof, Annet; Uziel, Yosef; Vastert, Sebastiaan J; Wulffraat, Nico M; Ozen, Seza; Brogan, Paul; Kamphuis, Sylvia; Beresford, Michael W

    2017-10-01

    Antiphospholipid syndrome (APS) is rare in children, and evidence-based guidelines are sparse. Consequently, management is mostly based on observational studies and physician's experience, and treatment regimens differ widely. The Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) initiative was launched to develop diagnostic and management regimens for children and young adults with rheumatic diseases. Here, we developed evidence-based recommendations for diagnosis and treatment of paediatric APS. Evidence-based recommendations were developed using the European League Against Rheumatism standard operating procedure. Following a detailed systematic review of the literature, a committee of paediatric rheumatologists and representation of paediatric haematology with expertise in paediatric APS developed recommendations. The literature review yielded 1473 articles, of which 15 were valid and relevant. In total, four recommendations for diagnosis and eight for treatment of paediatric APS (including paediatric Catastrophic Antiphospholipid Syndrome) were accepted. Additionally, two recommendations for children born to mothers with APS were accepted. It was agreed that new classification criteria for paediatric APS are necessary, and APS in association with childhood-onset systemic lupus erythematosus should be identified by performing antiphospholipid antibody screening. Treatment recommendations included prevention of thrombotic events, and treatment recommendations for venous and/or arterial thrombotic events. Notably, due to the paucity of studies on paediatric APS, level of evidence and strength of the recommendations is relatively low. The SHARE initiative provides international, evidence-based recommendations for diagnosis and treatment for paediatric APS, facilitating improvement and uniformity of care. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use

  5. Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

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    Elsobky Ezzat S

    2011-04-01

    Full Text Available Abstract Background Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and sensorineural hearing loss. To the best of our knowledge, cholestatic liver disease was not previously reported in these patients. Aim To highlight the presence of cholestasis and liver dysfunction in this group of patients and to suggest modified criteria for clinical diagnosis. Methods The study included nine patients with Cockayne from four different families (five males and four females in which Cockayne was suspected clinically. In all patients chromosomal breakage studies revealed mild (45% to moderate (60% increase in frequency of chromatid and chromosome gaps and breaks versus 25% in normal controls. Diagnosis was confirmed by DNA repair assay. Results During routine follow up of these patients, seven of them had evident liver affection ranging from mild elevation in liver enzymes to cholestatic liver disease and liver cell failure. The attacks were recurrent in two patients and were sometimes preceded by infection. The attack may lead to deterioration of neurological and/or liver condition. It may end in liver cell failure that either recovers completely or may lead to death. Conclusions liver disease could be considered common in Egyptian patients with Cockayne with the cholestatic form being the most evident. The syndrome should be included in the list of causes of cholestatic liver disease. Chromosomal breakage study and positive family history should be included as major criteria for clinical diagnosis of Cockayne especially in a population like ours where consanguineous marriage is very high and molecular testing and UV sensitivity tests are considered unaffordable.

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

    Science.gov (United States)

    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

  7. Sexually transmitted infections in women: A correlation of clinical and laboratory diagnosis in cases of vaginal discharge syndrome

    OpenAIRE

    Vidyalaxmi Chauhan; Maitri Shah; Sejal Thakkar; Sangita V Patel; Yogesh Marfatia

    2014-01-01

    Aims: This study compares the clinical and laboratory diagnosis of vaginal discharge syndrome. Settings and Design: This cross-sectional study was carried out at the gynaecology outpatient department of a tertiary care hospital in Gujarat, India. Material and Methods: Total of 180 females diagnosed as vaginal discharge or cervicitis based on syndromic approach and were recruited for the study. Their clinical profile was noted and they were investigated for bacterial vaginosis, trichomoniasis,...

  8. A 54-year-old male with rapidly progressive neurologic syndrome: Clinicopathologic correlation of a rare diagnosis

    Directory of Open Access Journals (Sweden)

    Deepti Mutreja

    2017-01-01

    Full Text Available Diagnosis of systemic lupus erythematosus (SLE as primary presentation with central nervous system involvement as a rapidly progressive neurologic syndrome is extremely rare. We present a rare case of a 54-year-old hypertensive male patient, who presented with a fulminant neurologic syndrome. He presented with cerebellar and meningeal signs, aseptic meningitis and had a rapid downhill course following admission. A postmortem revealed feature of systemic connective tissue fulfilling diagnostic criteria of SLE with lupus cerebritis.

  9. Diagnosis and Management of 253 Cases with Cushing's syndrome in Imam Khomeini Hospital

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    Esteghamati A.R

    2007-09-01

    Full Text Available Background: Definite diagnosis and treatment of Cushing's syndrome is still a dilemma. The aim of this study was to evaluate the accuracy of diagnostic tests and follow-up of patients with Cushing's syndrome."nMethods: Two hundred and fifty three consecutive cases with Cushing's syndrome during 1370-78 were studied. The screening tests were performed in all patients. High dose dexamethasone suppression test (HDDST and ACTH measurement were carried out. MRI/CT Scan were performed and compared with laboratory data and pathologic specimens as a gold standard test."nResults: The age range was 32±11 yrs. The most frequent symptoms were weakness; hypertension, typical striae, and depression .The frequency of hypertension in ACTH-dependent case were 77% vs. 36% in adrenal tumors (P< 0.001. HDDST was positive in 99% of micro and 71% of macroadenomas. Adrenal tumors showed 3.6% suppression but none in ectopic cases. HDDST had a sensitivity of 98%, specificity of 97% and accuracy equals to 98%. The frequency of different etiologies was as following: Cushing's disease in 64.8%, adrenal tumors in 32.8% and ectopic ACTH in 2.4% of patients. Trans-sphenoidal surgery (TSS was performed in 120 patients .The patients were followed for 53±25 months whose remission periods were 46.7±23.8 months (range 4-114 months. Survival analysis showed 93% remission rate in 12mo, 82% in 2yr and only 33% after 5yr.This recurrence didn't have any platue level."nConclusion: In our study, hypertension was more prevalent in ACTH-dependent Cushing's syndrome. HDDST had acceptable sensitivity, specificity and accuracy. Lifelong follow up of pituitary adenomas is inevitable in the case of progressive and gradual nature of recurrence in these tumors.

  10. The dragged-fovea diplopia syndrome: clinical characteristics, diagnosis, and treatment.

    Science.gov (United States)

    De Pool, M Elaine; Campbell, J Peter; Broome, Sheena O; Guyton, David L

    2005-08-01

    To identify the clinical characteristics of the dragged-fovea diplopia syndrome, to introduce a simple diagnostic test that aids in the evaluation of such patients, and to provide a simple treatment option to improve the diplopia in some of these patients. Retrospective, observational case series. Ninety-five affected eyes in 83 consecutive patients seen between January 1, 1993, and August 9, 2004, who were diagnosed with the dragged-fovea diplopia syndrome at one institution. We reviewed the records of 222 patients who have been seen in the Krieger Children's Eye Center at The Wilmer Institute since 1993 with a diagnosis of maculopathy, internal limiting membrane, or dragged fovea. We collected ocular findings and history for those patients who reported binocular diplopia that was not amenable to prism therapy and not secondary to acquired strabismus. We recorded the presence of metamorphopsia on Amsler grid testing or other clinical evidence of macular wrinkling, response to prism trial, response to the small-field central fusion test (lights on-off test), and response to partial occlusion with Scotch Satin tape (3M Co., St. Paul, MN). Ninety-five affected eyes in 83 patients met the criteria for inclusion in the study. All patients who were tested with the lights on-off test (n = 69) responded positively, demonstrating rapid central fusion with room lights off, and recurrence of central diplopia with peripheral fusion with room lights on. Forty-six patients (of 64 tested) were receptive to monocular occlusion with Scotch Satin tape. The dragged-fovea diplopia syndrome consists of central diplopia in the presence of peripheral fusion, secondary to dragging of the fovea in one or both eyes by retinal disease. The central diplopia cannot be eliminated by prism therapy or eye muscle surgery. The lights on-off test has proved pathognomonic for this syndrome, and many patients have benefited from partial monocular occlusion with Scotch Satin tape.

  11. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.

    Science.gov (United States)

    Byers, Peter H; Belmont, John; Black, James; De Backer, Julie; Frank, Michael; Jeunemaitre, Xavier; Johnson, Diana; Pepin, Melanie; Robert, Leema; Sanders, Lynn; Wheeldon, Nigel

    2017-03-01

    Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and requires multiple specialists who can respond to and manage the major complications. A summary of recommendations for management include: Identify causative variants in COL3A1 prior to application of diagnosis, modulate life style to minimize injury, risk of vessel/organ rupture, identify and create care team, provide individual plans for emergency care ("vascular EDS passport") with diagnosis and management plan for use when traveling, centralize management at centers of excellence (experience) when feasible, maintain blood pressure in the normal range and treat hypertension aggressively, surveillance of vascular tree by doppler ultrasound, CTA (low radiation alternatives) or MRA if feasible on an annual basis. These recommendations represent a consensus of an international group of specialists with a broad aggregate experience in the care of individuals with vascular EDS that will need to be assessed on a regular basis as new information develops. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  12. 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.

  13. PATIENTS' PERCEPTION ON CLINICAL OUTCOME AND QUALITY OF LIFE AFTER A DIAGNOSIS OF CUSHING SYNDROME.

    Science.gov (United States)

    Papoian, Vardan; Biller, Beverly M K; Webb, Susan M; Campbell, Karen K; Hodin, Richard A; Phitayakorn, Roy

    2016-01-01

    Excess cortisol production (Cushing syndrome, CS) is a chronic disease affecting many organ systems and impacting quality of life (QoL). This study analyzed factors associated with self-reported QoL, including aspects related to the diagnosis and treatment modalities of CS. In collaboration with the Cushing's Support and Research Foundation (CSRF), surveys using a validated QoL instrument were sent to CSRF members. Data were analyzed for associations between QoL and demographic, treatment, and disease factors. A total of 269 patients completed the survey. Respondents were 89.9% female, and the mean age was 48 years (SD 12, range 16-76). Respondents visited a median of 4 physicians (range 1-40) prior to the diagnosis of CS, with a median of 5 years (mean 7, SD 5, range 1-30) to obtain a diagnosis, showing a statistically significant negative correlation (Pdisease, highlighting the need for awareness about the disorder. Patients in remission had better QoL, emphasizing the importance of disease control.

  14. Genetic diagnosis and genetic counseling for androgen-insensitivity syndrome: a report of three cases.

    Science.gov (United States)

    Yamaguchi, Masatoshi; Sameshima, Hiroshi; Ikenoue, Tyuyomu

    2014-03-01

    In order to verify androgen-insensitivity syndrome (AIS) for three individuals and their mothers, genetic diagnosis was performed after genetic counseling. Polymerase chain reaction analysis was used for each exon of the androgen receptor (AR Xq11-q12) gene. The amplified DNA fragments were detected by gel electrophoresis. The DNA fragments were sequenced and their sequences were compared with those in a database (The Androgen Receptor Gene Mutations Database World Wide Web Server). A missense mutation was identified in exon 7 in case 1, deletions of exons 1 and 2 were identified in case 2, and a nonsense mutation was identified in the triplet repeat region of exon 1 in case 3. The mothers of the patients were also verified to be carriers of the mutations. Genetic diagnosis is a very useful method for diagnosing AIS. However, genetic counseling, including emotional support for the mother, is an essential component of genetic diagnosis. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

  15. Immunohistochemical diagnosis of Alport's syndrome in paraffin-embedded renal sections: antigen retrieval with autoclave heating.

    Science.gov (United States)

    Naito, Ichiro; Ninomiya, Yoshifumi; Nomura, Shinsuke

    2003-03-01

    Alport's syndrome (AS) is a hereditary renal disease caused by mutations in the genes encoding collagen type IV. Immunohistochemical analysis of the alpha chains of collagen type IV has been found to be useful for the diagnosis of this disease. The monoclonal antibodies (mAbs) generated by us recognize alpha 1(IV) through alpha 6(IV) chains of collagen type IV on fresh-frozen sections but not on paraffin-embedded sections. Antigen retrieval by autoclave heating has been found to restore the epitopes recognized by the mAbs; however the heating conditions had not been well established. In this study, the heating conditions were carefully examined using renal sections obtained from AS and non-AS patients. The heating was performed in an autoclave, at 105 degrees -127 degrees C for 6-8 min. During the heating, the sections were immersed in 0.2 N HCl solution (pH 0.9). Then, the mAbs were applied for 30 min, and the bound mAbs were detected using the LSAB kit. The optimal temperature for the antigen retrieval varied among specimens, and was dependent on the type of basement membrane examined. Thus, it was considered that heating at two or three different temperatures could be helpful for the precise diagnosis of AS. Adopting the antigen retrieval method could extend the possibility of immunohistochemical diagnosis of AS to cases without using fresh-frozen sections.

  16. MRI findings in the patients with the presumptive clinical diagnosis of Tolosa-Hunt syndrome

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    Cakirer, Sinan [Department of Radiology, Neuroradiology Section, Istanbul Sisli Etfal Hospital, 81120 Istanbul (Turkey)

    2003-01-01

    The aim of this study was to present our experience in MRI diagnosis of 23 patients with the clinical findings suggesting Tolosa-Hunt syndrome (THS). Cranial MRI studies of the patients with a clinical history of at least one episode of unilateral or bilateral orbital and periorbital pain, and associated paresis of one or more of third to sixth cranial nerves, were performed on a 1.5-T MRI scanner. Whereas 5 patients had the diagnosis of THS, paracavernous meningiomas in 4 patients, pituitary macroadenomas with cavernous sinus infiltration in 3 patients, Meckel's cave neurinoma in 1 patient, and suprasellar epidermoid in 1 patient were surgically proven MRI findings. Other pathological MRI findings were leptomeningeal metastases in 3 patients, granulomatous pachymeningitis sequelae in 2 patients, and aneurysm with compression on cavernous sinus in 1 patient. Three patients had normal MRI findings. The incidence of radiologically proven diagnosis of THS among the patients with the clinical findings suggesting THS seemed to be low in our study. In conclusion, MRI is the most valuable imaging technique to distinguish THS from other THS-like entities, and permits a precise assessment, management, and therapeutic planning of the underlying pathological conditions. (orig.)

  17. Descending perineum syndrome: a review of the presentation, diagnosis, and management.

    Science.gov (United States)

    Chaudhry, Zaid; Tarnay, Christopher

    2016-08-01

    Defecatory dysfunction is a relatively common and challenging problem among women and one that practicing pelvic reconstructive surgeons and gynecologists deal with frequently. A subset of defecatory dysfunction includes obstructed defecation, which can have multiple causes, one of which is descending perineum syndrome (DPS). A literature search was performed to identify the pathophysiology, diagnosis, and management of DPS. Although DPS has been described in the literature for many decades, it is still uncommonly diagnosed and difficult to manage. A high index of suspicion combined with physical examination consistent with excess perineal descent, patient symptom assessment, and imaging in the form of defecography are required for the diagnosis to be accurately made. Primary management options of DPS include conservative measures consisting of bowel regimens and biofeedback. Although various surgical approaches have been described in limited case series, no compelling evidence can be demonstrated at this point to support surgical intervention. Knowledge of DPS is essential for the practicing pelvic reconstructive surgeon to make a timely diagnosis, avoid harmful treatments, and initiate therapy early on.

  18. [The role of fetal echocardiography in the prenatal diagnosis of aneuploidy based upon prenatally diagnosed patau syndrome fetuses (case analysis)].

    Science.gov (United States)

    Janiak, Katarzyna; Kaczmarek, Piotr; Krasoń, Aneta; Nowicki, Grzegorz; Piotrowicz, Małgorzata; Respondek-Liberska, Maria

    2002-07-01

    Assessment of usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 13 (retrospective analysis). Between 1994-1999 at the Department for Diagnosis of Congenital Malformation at the Institute of PPMH in 11 fetuses with Patau Syndrome ultrasound and echocardiography examination were performed. In our study the most of cases come from low risk of pregnant women. Fetal heart defect was the most common anomaly diagnosed prenatally in fetuses with Patau Syndrome (7/11), the second one were central nervous system anomalies (6/11) and genitourinary system anomalies (6/11).

  19. 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...

  20. PATHOPHYSIOLOGY, DIAGNOSIS AND TREATMENTOF DUMPING SYNDROME AND ITS RELATION TO BARIATRIC SURGERY.

    Science.gov (United States)

    Chaves, Yasmin da Silva; Destefani, Afrânio Côgo

    The dumping syndrome is frequent in bariatric surgery. It is probably the most common syndrome following partial or complete gastrectomy. Its prevalence in partial gastrectomy can reach up to 50%, thus it can be a significant complication arising from some types of bariatric surgeries. Critical analysis on dumping syndrome, its pathophysiology, diagnosis and treatment. A literature review was performed using the key words: 'dumping syndrome', 'bariatric surgery' and 'rapid dumping syndrome'. Inclusion criteria were: books, original works, case reports and meta-analyzes, and the exclusion criterion was literature review. Concerning the publication time, articles were screened between 1960 and May 2015. The dumping syndrome is complication arising from obesity surgeries, but also can be a result of vagus nerve damage. Diagnosis is done primarily through the use of questionnaires based on scores. The Sigstad score and Arts survey are valid means for assessing the dumping syndrome. Initial therapy consists in the adoption of dietary measures, short acting drugs administration. A síndrome de dumping é frequente após operações bariátricas. É, provavelmente, a mais comum das síndromes que sucedem gastrectomias parciais ou completas. Sua prevalência, em gastrectomias parciais pode chegar a até 50%, tornando-se assim complicação significante em alguns tipos de operações bariátricas. Realizar análise crítica sobre a síndrome de dumping em sua fisiopatologia, diagnóstico e tratamento. Foi realizada revisão bibliográfica utilizando os descritores: 'síndrome de dumping', 'cirurgia bariátrica' e 'síndrome do esvaziamento rápido'. Os critérios de inclusão foram: livros, trabalhos originais, relatos de caso e metanálises; excluíram-se as revisões bibliográficas. Quanto ao tempo de publicação, foram selecionados artigos entre 1960 e maio de 2015. A síndrome de dumping é complicação gastrointestinal oriunda de operações para obesidade, mas tamb

  1. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

    Directory of Open Access Journals (Sweden)

    Priscila H. A. Oliveira

    Full Text Available Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%, interventricular communication (51.6%, patent ductus arteriosus (35.4%, pulmonary artery stenosis (25.8% and tetralogy of Fallot (22.5%. Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

  2. Early diagnosis of Werner’s syndrome using exome-wide sequencing in a single, atypical patient

    OpenAIRE

    Eleanor eRaffan; Liam A Hurst; Saeed eAl Turki; Gillian eCarpenter; Carol eScott; Allan eDaly; Alison eCoffey; Sanjeev eBhaskar; Eleanor eHoward; Naz eKhan; Helen eKingston; Aarno ePalotie; David Bousfield Savage; Mark eO'Driscoll; Claire eSmith

    2011-01-01

    Genetic diagnosis of inherited metabolic disease is conventionally achieved through syndrome recognition and targeted gene sequencing, but many patients receive no specific diagnosis. Next generation sequencing allied to capture of expressed sequences from genomic DNA now offers a powerful new diagnostic approach. Barriers to routine diagnostic use include cost, and the complexity of interpreting results arising from simultaneous identification of large numbers of variants. We applied exom...

  3. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Diagnosis and Management in Young People: A Primer

    Science.gov (United States)

    Rowe, Peter C.; Underhill, Rosemary A.; Friedman, Kenneth J.; Gurwitt, Alan; Medow, Marvin S.; Schwartz, Malcolm S.; Speight, Nigel; Stewart, Julian M.; Vallings, Rosamund; Rowe, Katherine S.

    2017-01-01

    Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex disease that affects children and adolescents as well as adults. The etiology has not been established. While many pediatricians and other health-care providers are aware of ME/CFS, they often lack essential knowledge that is necessary for diagnosis and treatment. Many young patients experience symptoms for years before receiving a diagnosis. This primer, written by the International Writing Group for Pediatric ME/CFS, provides information necessary to understand, diagnose, and manage the symptoms of ME/CFS in children and adolescents. ME/CFS is characterized by overwhelming fatigue with a substantial loss of physical and mental stamina. Cardinal features are malaise and a worsening of symptoms following minimal physical or mental exertion. These post-exertional symptoms can persist for hours, days, or weeks and are not relieved by rest or sleep. Other symptoms include cognitive problems, unrefreshing or disturbed sleep, generalized or localized pain, lightheadedness, and additional symptoms in multiple organ systems. While some young patients can attend school, on a full or part-time basis, many others are wheelchair dependent, housebound, or bedbound. Prevalence estimates for pediatric ME/CFS vary from 0.1 to 0.5%. Because there is no diagnostic test for ME/CFS, diagnosis is purely clinical, based on the history and the exclusion of other fatiguing illnesses by physical examination and medical testing. Co-existing medical conditions including orthostatic intolerance (OI) are common. Successful management is based on determining the optimum balance of rest and activity to help prevent post-exertional symptom worsening. Medications are helpful to treat pain, insomnia, OI and other symptoms. The published literature on ME/CFS and specifically that describing the diagnosis and management of pediatric ME/CFS is very limited. Where published studies are lacking, recommendations are based on the

  4. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Diagnosis and Management in Young People: A Primer

    Directory of Open Access Journals (Sweden)

    Peter C. Rowe

    2017-06-01

    Full Text Available Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS is a complex disease that affects children and adolescents as well as adults. The etiology has not been established. While many pediatricians and other health-care providers are aware of ME/CFS, they often lack essential knowledge that is necessary for diagnosis and treatment. Many young patients experience symptoms for years before receiving a diagnosis. This primer, written by the International Writing Group for Pediatric ME/CFS, provides information necessary to understand, diagnose, and manage the symptoms of ME/CFS in children and adolescents. ME/CFS is characterized by overwhelming fatigue with a substantial loss of physical and mental stamina. Cardinal features are malaise and a worsening of symptoms following minimal physical or mental exertion. These post-exertional symptoms can persist for hours, days, or weeks and are not relieved by rest or sleep. Other symptoms include cognitive problems, unrefreshing or disturbed sleep, generalized or localized pain, lightheadedness, and additional symptoms in multiple organ systems. While some young patients can attend school, on a full or part-time basis, many others are wheelchair dependent, housebound, or bedbound. Prevalence estimates for pediatric ME/CFS vary from 0.1 to 0.5%. Because there is no diagnostic test for ME/CFS, diagnosis is purely clinical, based on the history and the exclusion of other fatiguing illnesses by physical examination and medical testing. Co-existing medical conditions including orthostatic intolerance (OI are common. Successful management is based on determining the optimum balance of rest and activity to help prevent post-exertional symptom worsening. Medications are helpful to treat pain, insomnia, OI and other symptoms. The published literature on ME/CFS and specifically that describing the diagnosis and management of pediatric ME/CFS is very limited. Where published studies are lacking, recommendations

  5. Role of thyroid transcription factor-1 in the diagnosis of feline lung-digit syndrome.

    Science.gov (United States)

    Finotello, Riccardo; Masserdotti, Carlo; Baroni, Gianna; Ressel, Lorenzo

    2017-04-01

    Objectives The aim of this study was to investigate the role of thyroid transcription factor-1 (TTF-1) in the diagnosis of feline lung-digit syndrome (FLDS) and to investigate the associations between the morphological features of FLDS and TTF-1 expression. We also compared the reliability of TTF-1 and transmission electron microscopy (TEM) in establishing the diagnosis of FLDS. Methods Histology records of feline digit tumours were retrieved, including patients from 2008-2015. If formalin-fixed, paraffin-embedded tissues were available for review, patients were included in the study. As a control group we included 12 feline primary tumours of the digits. All the histological slides of the study group were blindly reviewed by the same veterinary pathologist. Representative sections of the lesions were selected for immunohistochemistry (IHC) analysis. To confirm the respiratory origin of the neoplastic tissue, TEM was used as a gold standard in all cases. Results Five cases of FLDS were included. TTF-1 was weakly to moderately positive in 60% of the cases, showing no correlation with the microscopic presence of ciliated epithelium. When IHC results were combined with the presence of cilia, 80% of the cases from the study group could be identified as FLDS. TEM confirmed the presence of ciliated epithelium in all five cases, confirming the respiratory origin of the neoplastic tissue and therefore the diagnosis of FLDS. Conclusions and relevance TTF-1 expression is maintained in FLDS. While the combination of TTF-1 and identification of cilia confirms FLDS, TEM should be considered in those cases where diagnosis is uncertain and FLDS is suspected.

  6. The incidence and aetiology of acute kidney injury in children in Norway between 1999 and 2008

    Science.gov (United States)

    Jenssen, Gaute Reier; Hovland, Eirik; Bangstad, Hans-Jacob; Nygård, Karin; Vold, Line; Bjerre, Anna

    2014-01-01

    Aim Primary acute kidney injury (AKI) is a direct cause of hospitalisation in children, but can also result from other conditions. There is limited information on the epidemiology of this condition. Our aim was to describe the national incidence rate and aetiology of acute kidney injury in children under the age of 16 in Norway from 1999 to 2008. Methods We carried out a retrospective study of medical records provided by all 18 of the paediatric hospital departments that specialise in treating paediatric patients with AKI. Results We identified 315 cases of AKI (53% male), with an estimated average annual incidence rate of 3.3 cases per 100 000 children and a median annual occurrence of 33 cases. Most cases (43%) were in children under five. We identified 53 aetiologies and classified these into 30 aetiological groups: 24% of the cases were prerenal (n = 75), 74% were intrinsic/renal (n = 234) and 2% were postrenal (n = 5). Nephritic syndromes was the major cause (44%) of AKI, followed by haemolytic-uraemic syndrome (HUS) (15%). Conclusion Nephritic syndromes and HUS are the most common aetiologies of AKI in Norway. Although our results could indicate a low incidence of paediatric AKI in Norway, the lack of other national studies makes comparisons difficult. PMID:25039408

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

    Directory of Open Access Journals (Sweden)

    Vogel Tobias

    2006-06-01

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

  8. Restless legs syndrome and nocturnal leg cramps: a review and guide to diagnosis and treatment.

    Science.gov (United States)

    Tipton, Philip W; Wszołek, Zbigniew K

    2017-12-22

    Restless legs syndrome (RLS) and nocturnal leg cramps (NLCs) are common disorders affecting 7.0% and 24.1% of the population in some European countries, respectively. Patients suffering from RLS experience uncomfortable nocturnal sensations in the legs with the urge to move that dissipates while moving. NLC is characterized by abrupt muscle contraction, most often in the gastrocnemius or foot muscles, which occurs at night and may result in significant sleep disturbances. The diagnosis of these disorders has presented a challenge to health care providers because of symptom overlap with other sensory and motor disturbances with nocturnal predominance. Treatment options and approaches are lacking, partially because of our currently incomplete understanding of the pathophysiological mechanisms underlying these conditions. We reviewed the medical literature to provide a comprehensive assessment of RLS and NLC with a focus on improved diagnostic accuracy and treatment approaches.

  9. Linear and nonlinear analysis of airflow recordings to help in sleep apnoea–hypopnoea syndrome diagnosis

    International Nuclear Information System (INIS)

    Gutiérrez-Tobal, G C; Hornero, R; Álvarez, D; Marcos, J V; Del Campo, F

    2012-01-01

    This paper focuses on the analysis of single-channel airflow (AF) signal to help in sleep apnoea–hypopnoea syndrome (SAHS) diagnosis. The respiratory rate variability (RRV) series is derived from AF by measuring time between consecutive breathings. A set of statistical, spectral and nonlinear features are extracted from both signals. Then, the forward stepwise logistic regression (FSLR) procedure is used in order to perform feature selection and classification. Three logistic regression (LR) models are obtained by applying FSLR to features from AF, RRV and both signals simultaneously. The diagnostic performance of single features and LR models is assessed and compared in terms of sensitivity, specificity, accuracy and area under the receiver-operating characteristics curve (AROC). The highest accuracy (82.43%) and AROC (0.903) are reached by the LR model derived from the combination of AF and RRV features. This result suggests that AF and RRV provide useful information to detect SAHS. (paper)

  10. Prostate specific antigen (PSA) in diagnosis of polycystic ovarian syndrome - a new insight.

    Science.gov (United States)

    Rudnicka, Ewa; Radowicki, Stanislaw; Suchta, Katarzyna

    2016-11-01

    Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder and cause of androgen excess in women. Prostate specific antigen (PSA) could be a new marker of hyperandrogenism in PCOS. The aim of the study was to assess the concentration PSA (total PSA - TPSA and free PSA - fPSA) in 165 patients with PCOS and 40 healthy female controls, the relationship between PSA (TPSA and fPSA) and hormonal parameters and to determine the performance of PSA in diagnosis of PCOS. Total PSA was higher in PCOS group versus controls. The fPSA was below the lower detection levels among all patients. The median value of FAI was 4.31 in PCOS patients versus 1.79 in controls, p PSA serum levels in diagnostic of PCOS.

  11. Etiopathogenical criteria in the early diagnosis of Compartmental Syndrome (CS of the shank

    Directory of Open Access Journals (Sweden)

    Șerban Al. O.

    2014-11-01

    Full Text Available Through the evaluation of some etiopathogenic risk factors one can anticipate the evaluation of some fractures towards Compartmental Syndrome (CS and then their diagnosis in early stage, when the symptomatology is still unconvincing and the treatment reduces the risk of ischemia lesions. Based both on some prospective observations, using a group of shank fractures, and also on the clinical facts of constituted CS, there were made correlations, statistically reported in the case of some etiopathogenic risk factors represented by the fracture localization and its characteristics, traumatic mechanisms, soft tissue quality and polytraumatism, having an objective common denominator, the compartmental pressure level measured directly. The authors propose an etiopathogenic risk score of CS for the fractures reaching the pressure level of 20-30mmHg, recommending the pressional and clinical monitoring for a score of minimum 10 points. These fractures have a certain risk of CS.

  12. Rapid polymerase chain reaction diagnosis of white-nose syndrome in bats

    Science.gov (United States)

    Lorch, J.M.; Gargas, A.; Meteyer, C.U.; Berlowski-Zier, B. M.; Green, D.E.; Shearn-Bochsler, V.; Thomas, N.J.; Blehert, D.S.

    2010-01-01

    A newly developed polymerase chain reaction (PCR)-based method to rapidly and specifically detect Geomyces destructans on the wings of infected bats from small quantities (1-2 mg) of tissue is described in the current study (methods for culturing and isolating G. destructans from bat skin are also described). The lower limits of detection for PCR were 5 fg of purified fungal DNA or 100 conidia per 2 mg of wing tissue. By using histology as the standard, the PCR had a diagnostic specificity of 100% and a diagnostic sensitivity of 96%, whereas the diagnostic sensitivity of culture techniques was only 54%. The accuracy and fast turnaround time of PCR provides field biologists with valuable information on infection status more rapidly than traditional methods, and the small amount of tissue required for the test would allow diagnosis of white-nose syndrome in live animals.

  13. Aetiology of supernumerary teeth: a literature review.

    Science.gov (United States)

    Anthonappa, R P; King, N M; Rabie, A B M

    2013-10-01

    Supernumerary teeth are teeth, or tooth-like structures that have either erupted or remain unerupted in addition to the 20 primary and 32 permanent teeth. This paper attempts to (a) provide an overview of the proposed hypotheses and the current understanding of the aetiology of supernumerary teeth, and (b) review the published cases of supernumerary teeth occurring in families. No studies have been able to distinguish between different aetiologies for the different locations of supernumerary teeth, while, from a developmental or molecular perspective, the proposed hypotheses may be plausible and explains the origin of different types of supernumerary teeth. The only clearly evident feature, based on the existing published reports, is that it is logical to state that supernumerary teeth have a genetic component in their aetiology.

  14. 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

  15. Ambulatory monitoring in the diagnosis and management of obstructive sleep apnoea syndrome

    Directory of Open Access Journals (Sweden)

    Jaime Corral-Peñafiel

    2013-09-01

    Full Text Available Obstructive sleep apnoea (OSA is a highly prevalent disorder associated with complications such as arterial hypertension, cardiovascular diseases and traffic accidents. The resources allocated for OSA are insufficient and OSA is a significant public health problem. Portable recording devices have been developed for the detection of OSA syndrome and have proved capable of providing an equivalent diagnosis to in-laboratory polysomnography (PSG, at least in patients with a high pre-test probability of OSA syndrome. PSG becomes important in patients who have symptoms and certain comorbidities such as chronic obstructive pulmonary disease or stroke, as well as in patients with a clinical history suggesting a different sleep disorder. Continuous positive airway pressure is the most effective treatment in OSA. Ambulatory monitoring of the therapeutic modalities has been evaluated to enhance the care process and reduce costs compared to the conventional approach, without sacrificing efficiency. This review evaluates the role of portable monitoring devices in the diagnostic process of OSA and the search for alternative strategies based on ambulatory management protocols.

  16. The importance of using fluorescence in situ hybridization for the diagnosis of Smith-Magenis syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Juyal, R.C.; Greenberg, F.; Lupski, J.R. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly/mental retardation syndrome associated with deletion of chromosome 17p11.2. Quality metaphase preparations are required for unambiguous detection of the deletion. We and others have reported cases of SMS due to mosaicism for del(17)(p11.2). Examination of peripheral blood lymphocyte cultures of a patient with the SMS phenotype at 850 band level of resolution revealed a low level mosaicism (11%) for the deletion. Examination of fibroblasts at relatively low resolution revealed the deletion in all cells. In a second study, we reported molecular evidence for mosaicism in the unaffected mother of an SMS patient who demonstrated mosaicism (55%) for the deletion at a resolution level of < 500 bands. We now report a different SMS patient who was initially diagnosed as mosaic del(17)(p11.2) in two different cytogenetic laboratories. A third blinded cytogenetic study yielded a questionable diagnosis. Fluorescence in situ hybridization (FISH) conducted in two different laboratories with two different markers shown to be within the deletion region and a control marker from chromosome 17 demonstrated a deletion in 20/20 and 25/25 metaphases scored, respectively. It appears the latter patient may harbor a very small deletion and that FISH is a more reliable test for the Smith-Magenis deletion. Furthermore, FISH should be used to confirm or refute mosaicism seen in routine cytogenetics studies.

  17. Value of ultrasonography in the diagnosis of polycystic ovary syndrome – literature review

    Science.gov (United States)

    Abdalla, Nebil; Cendrowski, Krzysztof; Sawicki, Włodzimierz

    2015-01-01

    Polycystic ovary syndrome is a multi-factorial disease. Its etiopathogenesis has not been elucidated in detail. It is the most common endocrine disorder in women of child-bearing age. This disease entity is primarily characterized by disrupted ovulation and hyperandrogenism, but the clinical picture can be diversified and symptom intensity can vary. Currently, the sonographic assessment of ovaries is one of the obligatory criteria for the diagnosis of PCOS according to the Rotterdam consensus (2003) and Androgen Excess & PCOS Society (2006). This criterion is determined by the presence of ≥12 follicles within the ovary with a diameter of 2–9 mm and/or ovarian volume ≥10 cm3. Such an ultrasound image in one gonad only is sufficient to define polycystic ovaries. The coexistence of polycystic ovaries with polycystic ovary syndrome is confirmed in over 90% of cases irrespective of ethnic factors or race. However, because of the commonness of ultrasound features of polycystic ovaries in healthy women, the inclusion of this sign to the diagnostic criteria of polycystic ovary syndrome is still questioned. The development of new technologies has an undoubted influence on the percentage of diagnosed polycystic ovaries. This process has caused an increase in the percentage of polycystic ovary diagnoses since the Rotterdam criteria were published. It is therefore needed to prepare new commonly accepted diagnostic norms concerning the number of ovarian follicles and the standardization of the technique in which they are counted. The assessment of anti-Müllerian hormone levels as an equivalent of ultrasound features of polycystic ovaries is a promising method. However, analytic methods have to be standardized in order to establish commonly accepted diagnostic norms. PMID:26807298

  18. Electron-beam CT diagnosis of the viscero-atrial heterotaxy syndrome

    International Nuclear Information System (INIS)

    Yang Youyou; Dai Ruping; Jing Baolian; He Sha; Bai Hua; Li Xiangmin; Zhou Xuhui; Peng Qian; Meng Quanfei

    2002-01-01

    Objective: To assess the usefulness of electron-beam CT (EBCT) in diagnosis of the viscero-atrial heterotaxy syndrome. Methods: Ten patients with the viscero-atrial heterotaxy syndrome were evaluated. The patients ranged in age from 7 months to 17 years (averaged 9.5 years). Five of the patients underwent EBCT contrast single slice mode while another 5 patients did continuous volume scan obtained from the superior aperture of thorax to the middle part of abdomen. All the patients had both angiocardiogram and echocardiogram, and 6 patients had operative outcomes. Results; (1) Eight patients with right atrial isomerism, bilaterally morphologic right atrial appendages, right lobe dominant symmetric liver, bilaterally epi-arterial bronchi, trilobed lungs, and total anomalous pulmonary venous connectional were clearly detected. Endocardial cushions defect, pulmonary stenosis, right-sided aortic arch and descending aorta were documented in 7 patients. Double outlet of right ventricle was imaged in 6 patients and hiatal hernia in 2 patients. Neither a spleen nor splenulus were found. (2) Two patients with left atrial isomerism, bilaterally morphologic left atrial appendages, left lobe dominant symmetric liver, bilaterally hyparterial bronchi, bilobed lungs, double outlet of right ventricle, pulmonary stenosis, interruption of inferior vena cave, right-sided aortic arch, and descending aorta were documented. Endocardial cushions defect was detected in 1 patient. Multiple spleens were demonstrated in the right upper abdomen in the 2 patients. (3) The number of abnormal observations detected by EBCT was 116, while that done by angiocardiogram and echocardiogram were 65 and 43 respectively. Conclusion: EBCT is a useful tool in the evaluation of patients with the syndrome of viscero-atrial heterotaxia

  19. Cannabinoid Hyperemesis Syndrome: Diagnosis, Pathophysiology, and Treatment-a Systematic Review.

    Science.gov (United States)

    Sorensen, Cecilia J; DeSanto, Kristen; Borgelt, Laura; Phillips, Kristina T; Monte, Andrew A

    2017-03-01

    Cannabinoid hyperemesis syndrome (CHS) is a syndrome of cyclic vomiting associated with cannabis use. Our objective is to summarize the available evidence on CHS diagnosis, pathophysiology, and treatment. We performed a systematic review using MEDLINE, Ovid MEDLINE, Embase, Web of Science, and the Cochrane Library from January 2000 through September 24, 2015. Articles eligible for inclusion were evaluated using the Grading and Recommendations Assessment, Development, and Evaluation (GRADE) criteria. Data were abstracted from the articles and case reports and were combined in a cumulative synthesis. The frequency of identified diagnostic characteristics was calculated from the cumulative synthesis and evidence for pathophysiologic hypothesis as well as treatment options were evaluated using the GRADE criteria. The systematic search returned 2178 articles. After duplicates were removed, 1253 abstracts were reviewed and 183 were included. Fourteen diagnostic characteristics were identified, and the frequency of major characteristics was as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). The pathophysiology of CHS remains unclear with a dearth of research dedicated to investigating its underlying mechanism. Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment. CHS is a cyclic vomiting syndrome, preceded by daily to weekly cannabis use, usually accompanied by symptom improvement with hot bathing, and resolution with cessation of cannabis. The pathophysiology underlying CHS is unclear. Cannabis cessation appears to be the best treatment.

  20. Boys with Asperger Syndrome Grow Up: Psychiatric and Neurodevelopmental Disorders 20 Years after Initial Diagnosis

    Science.gov (United States)

    Gillberg, I. Carina; Helles, Adam; Billstedt, Eva; Gillberg, Christopher

    2016-01-01

    We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had "never" met criteria for an additional psychiatric/neurodevelopmental diagnosis and…